diff --git a/.gitattributes b/.gitattributes index bed0738c7eeb449bca98b5d2f33c89a1ee56349a..6716c5195a56effe20baee8fbc8fcc59ce0dfdea 100644 --- a/.gitattributes +++ b/.gitattributes @@ -58,3 +58,8 @@ saved_model/**/* filter=lfs diff=lfs merge=lfs -text # Video files - compressed *.mp4 filter=lfs diff=lfs merge=lfs -text *.webm filter=lfs diff=lfs merge=lfs -text +data/hpo/disease_annotations.jsonl filter=lfs diff=lfs merge=lfs -text +data/hpo/gene_phenotypes.jsonl filter=lfs diff=lfs merge=lfs -text +data/mgi/genotype_phenotypes.jsonl filter=lfs diff=lfs merge=lfs -text +data/monarch/mouse_gene_phenotype.jsonl filter=lfs diff=lfs merge=lfs -text +data/orthology_manifest.json filter=lfs diff=lfs merge=lfs -text diff --git a/DATA_CONTRACT.md b/DATA_CONTRACT.md index 84798d9ec8136fac3a0b19aefbfca05888d82932..3d9bf5a0c2f61c44b9b9ccf64bc2008d613d44aa 100644 --- a/DATA_CONTRACT.md +++ b/DATA_CONTRACT.md @@ -1,40 +1,68 @@ -# VariantHound Hugging Face data contract - -## Package layout - -| Path | Purpose | -|---|---| -| `data/benchmark_cases.jsonl` | One validated canine benchmark case per line, sorted by case ID | -| `data/source_manifest.json` | Upstream source access, pinning, redistribution, and attribution policy | -| `data/orthology_manifest.json` | Release-qualified dog-human-mouse mapping policy or pinned mapping snapshot | -| `data/ml-readiness-policy.json` | Versioned independent-sample and learned-model promotion thresholds | -| `schemas/*.schema.json` | Machine-readable contracts used by the source repository | -| `docs/*.md` | Data provenance, leakage-safe evaluation, and orthology guidance | -| `release-manifest.json` | Dataset version, source commit, file sizes, and SHA-256 digests | - -The release builder uses an explicit source-to-destination allowlist. Files under `data/raw`, `data/processed`, browser build directories, credentials, VCF/BCF files, and complete third-party database exports are never copied implicitly. - -## Benchmark case fields - -Each line in `data/benchmark_cases.jsonl` contains: - -- `id`, `label`, `species`, `breed`, and `expected_gene`; -- `disease_group_id`, the indivisible split and resampling unit; -- `phenotypes.present` and `phenotypes.excluded` ontology identifiers; -- `publication_year`; -- `evaluation.discovery_mask_evidence_ids` and `evaluation.discovery_mask_disease_ids`; -- `evaluation.temporal_status` and an exclusion reason when applicable; -- a literature `reference` with label and URL. - -Cases are benchmark inputs, not independent training rows. Disease-level grouping and temporal availability must be preserved in any downstream evaluation. - -## Release integrity - -`release-manifest.json` is valid only when: - -1. every listed payload path exists and no unlisted file is present; -2. every byte count and lowercase SHA-256 digest matches; -3. the dataset version and source Git commit are recorded; -4. the package was built after the repository data validator passed. - -The upload script rechecks all four conditions before contacting Hugging Face. +# VariantHound Hugging Face data contract + +## Package layout + +| Path | Purpose | +|---|---| +| `data/benchmark_cases.jsonl` | One validated canine benchmark case per line, sorted by case ID | +| `data/source_manifest.json` | Upstream source access, pinning, redistribution, and attribution policy | +| `data/ensembl-compara-116.json` | Immutable Ensembl 116 artifact checksums, assemblies, and expected row counts | +| `data/hpo-2026-09-01.json` | Immutable HPO asset IDs, checksums, and expected normalized counts | +| `data/monarch-kg-2026-09-02.json` | Dated Monarch/HGNC artifacts and exact normalized counts | +| `data/mgi-2026-09-12.json` | Retrieval-dated MGI/MP artifacts, conflict policy, and exact counts | +| `data/omia-2026-09-12.json` | Retrieval-dated OMIA dump and official gene-crosswalk checksums | +| `data/phenio-2026-09-01.json` | Immutable PHENIO relation-graph assets and exact compact-closure counts | +| `data/orthology_manifest.json` | Release-qualified dog-human-mouse mapping policy or pinned mapping snapshot | +| `data/hpo/snapshot.json` | HPO release metadata and normalized-file integrity records in full releases | +| `data/hpo/ontology_terms.jsonl` | HPO term hierarchy, synonyms, alternate IDs, and obsolescence | +| `data/hpo/gene_phenotypes.jsonl` | NCBI Gene-to-HPO annotations with disease and frequency context | +| `data/hpo/disease_annotations.jsonl` | Disease-to-HPO annotations with references, evidence, and negation | +| `data/monarch/snapshot.json` | Monarch release, deduplication, provenance, and output integrity records | +| `data/monarch/human_gene_disease.jsonl` | Stable-ID human gene-to-MONDO evidence | +| `data/monarch/mouse_gene_phenotype.jsonl` | MGI gene-to-MP evidence with primary-source attribution | +| `data/mgi/snapshot.json` | Direct MGI provenance, identifier policies, and output integrity records | +| `data/mgi/mp_terms.jsonl` | Mammalian Phenotype hierarchy and identifier status | +| `data/mgi/gene_crosswalk.jsonl` | Phenotype-bearing MGI markers with reconciled NCBI/Ensembl IDs | +| `data/mgi/genotype_phenotypes.jsonl` | Direct genotype-to-MP evidence and rank-eligibility state | +| `data/omia/snapshot.json` | Canine OMIA provenance, masking and output-integrity contract | +| `data/omia/genes.jsonl` | OMIA internal-to-NCBI Gene resolution for canine genes | +| `data/omia/phenes.jsonl` | Canine phenes, clinical text, inheritance, breeds and ontology links | +| `data/omia/gene_phene_evidence.jsonl` | Stable-ID canine gene–phene evidence with discovery mask IDs | +| `data/omia/causal_variants.jsonl` | Variants linked to canine single-locus traits with assemblies and publications | +| `data/omia/publications.jsonl` | Publications referenced by canine OMIA phenes or variants | +| `data/phenio/snapshot.json` | PHENIO release, closure semantics, prefix policy, and output integrity | +| `data/phenio/phenotype_closure.tsv.gz` | Entailed reflexive HP/MP/uPheno subclass closure used for semantic similarity | +| `data/phenio/upstream_versions.tsv` | Versions of all ontologies integrated into the pinned PHENIO release | +| `data/browser/manifest.json` | Content-addressed browser collection map, source fingerprints, counts, and limitations | +| `data/browser/{collection}/*` | Sixteen deterministic gzip buckets per terms, closure, gene-profile, and orthology collection | +| `data/ml-readiness-policy.json` | Versioned independent-sample and learned-model promotion thresholds | +| `schemas/*.schema.json` | Machine-readable contracts used by the source repository | +| `docs/*.md` | Data provenance, leakage-safe evaluation, source-ingestion, and ranking guidance | +| `release-manifest.json` | Dataset version, source commit, file sizes, and SHA-256 digests | + +The release builder uses an explicit source-to-destination allowlist. Files under `data/raw`, `data/processed`, browser build directories, credentials, VCF/BCF files, and complete third-party database exports are never copied implicitly. The complete OMIA SQL dump is excluded; only its verified canine transform can be selected. + +## Benchmark case fields + +Each line in `data/benchmark_cases.jsonl` contains: + +- `id`, `label`, `species`, `breed`, and `expected_gene`; +- `disease_group_id`, the indivisible split and resampling unit; +- `phenotypes.present` and `phenotypes.excluded` ontology identifiers; +- `publication_year`; +- `evaluation.discovery_mask_evidence_ids` and `evaluation.discovery_mask_disease_ids`; +- `evaluation.temporal_status` and an exclusion reason when applicable; +- a literature `reference` with label and URL. + +Cases are benchmark inputs, not independent training rows. Disease-level grouping and temporal availability must be preserved in any downstream evaluation. + +## Release integrity + +`release-manifest.json` is valid only when: + +1. every listed payload path exists and no unlisted file is present; +2. every byte count and lowercase SHA-256 digest matches; +3. the dataset version and source Git commit are recorded; +4. the package was built after the repository data validator passed. + +The upload script rechecks all four conditions before contacting Hugging Face. diff --git a/LICENSE b/LICENSE index 20eb2b97464a5044d7803f49bda14b9e69bfc1d8..b110a4d2461cf8f009a6019ba73151ab676683c8 100644 --- a/LICENSE +++ b/LICENSE @@ -1,21 +1,21 @@ - Apache License - Version 2.0, January 2004 - http://www.apache.org/licenses/ - -Copyright 2026 VariantHound contributors - -Licensed under the Apache License, Version 2.0 (the "License"); -you may not use this file except in compliance with the License. -You may obtain a copy of the License at - - http://www.apache.org/licenses/LICENSE-2.0 - -Unless required by applicable law or agreed to in writing, software -distributed under the License is distributed on an "AS IS" BASIS, -WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. -See the License for the specific language governing permissions and -limitations under the License. - -The Apache-2.0 license applies to original VariantHound software only. -Third-party datasets retain their own licenses, terms, and attribution -requirements. No third-party raw dataset is redistributed in this repository. + Apache License + Version 2.0, January 2004 + http://www.apache.org/licenses/ + +Copyright 2026 VariantHound contributors + +Licensed under the Apache License, Version 2.0 (the "License"); +you may not use this file except in compliance with the License. +You may obtain a copy of the License at + + http://www.apache.org/licenses/LICENSE-2.0 + +Unless required by applicable law or agreed to in writing, software +distributed under the License is distributed on an "AS IS" BASIS, +WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. +See the License for the specific language governing permissions and +limitations under the License. + +The Apache-2.0 license applies to original VariantHound software only. +Third-party datasets retain their own licenses, terms, and attribution +requirements. No third-party raw dataset is redistributed in this repository. diff --git a/README.md b/README.md index 4a4e67d99814fcd94f9329b30593cf6c160db619..69c1ae67a0ecdcc9dd53afcb3bc5d480f060c42c 100644 --- a/README.md +++ b/README.md @@ -1,62 +1,91 @@ ---- -pretty_name: VariantHound Research Snapshot -language: -- en -license: other -size_categories: -- n<1K -tags: -- biology -- genomics -- veterinary -- phenotype -- tabular -configs: -- config_name: benchmark_cases - data_files: - - split: test - path: data/benchmark_cases.jsonl ---- - -# VariantHound Research Snapshot - -VariantHound is an explainable, phenotype-aware research system for ranking candidate genes in canine inherited disease. This dataset repository contains the compact, redistributable artifacts generated from the public [VariantHound source repository](https://github.com/TinyAnts/VariantHound). - -> Research and educational use only. This snapshot is not a diagnostic dataset or medical device, and its rankings require expert review and experimental validation. - -## Current contents - -The initial release is a deliberately small demonstration snapshot: - -- three literature-grounded canine benchmark cases; -- source and orthology provenance manifests; -- machine-readable schemas for the published contracts; -- evaluation, data, and orthology documentation; -- a release manifest containing the source Git commit, byte sizes, and SHA-256 checksums. - -`data/benchmark_cases.jsonl` is the viewer-friendly dataset split. The snapshot does not include raw OMIA, HPO, Monarch, MGI, Ensembl, or Dog10K database exports. - -## Evaluation safety - -The benchmark metadata defines direct evidence and disease masks for discovery simulation. Temporal evaluation is allowed only when a historical source snapshot predating the case publication has been independently materialized. Known-evidence retrieval results must not be reported as discovery performance. - -## Orthology status - -The initial orthology manifest is `unmaterialized`. That state is intentional: it contains no mapping rows and cannot be used for scoring until an Ensembl release, all three annotation assemblies, a retrieval timestamp, and a source checksum have been pinned and validated. - -## Reproducibility - -Every uploaded release is built by `pipelines/build_hf_release.py`. Verify `release-manifest.json` before using the data. The manifest records every payload file and its SHA-256 digest. - -## Licensing and attribution - -Original VariantHound code and documentation are Apache-2.0. Benchmark facts and future processed tables retain their upstream sources' terms and attribution requirements, so the aggregate dataset uses `license: other`. See `docs/DATA.md`, the per-case references, and the source manifest before redistribution or publication. - -## Known limitations - -- Three demonstration cases are not an adequate performance benchmark. -- The ontology vocabulary in the demo is intentionally compact and includes internal `VH:*` terms. -- The current bundle contains no usable production orthology snapshot. -- A learned ranking model is not supported by the current sample size. - -See `DATA_CONTRACT.md` for the package layout and field-level expectations. +--- +pretty_name: VariantHound Research Snapshot +language: +- en +license: other +size_categories: +- 1M Research and educational use only. This snapshot is not a diagnostic dataset or medical device, and its rankings require expert review and experimental validation. + +## Current contents + +The release contains: + +- three literature-grounded canine benchmark cases; +- source and orthology provenance manifests; +- a checksum-pinned Ensembl 116 dog-human-mouse orthology snapshot in releases built by the publication workflow; +- a checksum pin for HPO 2026-09-01 and its matching human annotations, plus normalized JSONL in publication-workflow releases; +- a dated Monarch 2026-09-02 evidence snapshot with a checksum-pinned HGNC stable-ID crosswalk; +- a direct, retrieval-dated MGI genotype/phenotype snapshot with reconciled stable gene IDs; +- a processed canine OMIA snapshot with phenes, stable-ID gene evidence, causal variants, breeds, and publications; +- a compact PHENIO HP/MP/uPheno semantic-similarity closure with upstream ontology versions; +- content-addressed browser shards for terms, phenotype closure, stable-ID gene profiles, and orthology; +- machine-readable schemas for the published contracts; +- evaluation, data, orthology, HPO, Monarch, MGI, OMIA, and PHENIO documentation; +- a release manifest containing the source Git commit, byte sizes, and SHA-256 checksums. + +`data/benchmark_cases.jsonl` is the viewer-friendly benchmark split. HPO and OMIA are published as normalized JSONL under their source directories; raw upstream assets are not mirrored. The snapshot does not include raw OMIA, Monarch, MGI, Ensembl, or Dog10K database exports. + +## Evaluation safety + +The benchmark metadata defines direct evidence and disease masks for discovery simulation. Temporal evaluation is allowed only when a historical source snapshot predating the case publication has been independently materialized. Known-evidence retrieval results must not be reported as discovery performance. + +## Orthology status + +The publication workflow materializes 41,504 Ensembl 116 protein-tree orthology edges: 20,279 dog-human and 21,225 dog-mouse links. It unions the dog, human, and mouse genome-specific exports because Ensembl partitions pairwise rows arbitrarily between those files. Every artifact is checked against its pinned byte count, official MD5, and SHA-256 before transformation. One-to-many and many-to-many relationships are retained and explicitly marked ambiguous. + +## HPO status + +The publication workflow verifies three immutable GitHub release assets before materializing 20,482 ontology terms, 333,983 human gene-phenotype annotations, and 286,651 disease-phenotype annotations. Negated disease annotations remain explicit. The snapshot is marked `current-snapshot-only` and cannot be used as a historical temporal-evaluation source. + +## Monarch status + +The dated Monarch KG subsets materialize 6,965 deduplicated human gene-disease associations and 296,123 mouse gene-phenotype associations. Human HGNC IDs are resolved through a separately pinned HGNC export: 4,799 of 4,800 genes have Ensembl IDs and all 4,800 have a stable NCBI or Ensembl join ID. Primary and aggregator provenance are retained so MGI-derived rows cannot be double-counted when direct MGI data is added. + +## Direct MGI status + +The direct MGI snapshot contains 15,317 MP terms and 283,119 genotype-phenotype rows. Identifier reconciliation makes 276,606 rows rank-eligible. It retains but excludes 26 rows affected by conflicting NCBI mappings and 6,487 rows whose markers lack stable join IDs. Direct MGI and Monarch's MGI-derived view must be deduplicated by provenance before scoring. + +## OMIA status + +The retrieval-dated canine transform contains 1,019 phenes, 435 gene-phene edges, and 594 variants linked to single-locus traits. OMIA internal gene IDs are resolved only through the separately pinned official export: 430 gene-phene rows and 591 variant rows are rank-eligible, while unresolved mappings remain available for audit. Each evidence row includes deterministic discovery mask IDs. Because OMIA provides a moving dump rather than historical releases, this snapshot is restricted to current-snapshot evaluation. + +## PHENIO status + +The pinned PHENIO `v2026-09-01` transform scans 82,128,289 materialized relations and retains 3,972,487 entailed reflexive subclass rows for 20,413 HPO, 15,317 MP, and 54,198 uPheno terms. This compact closure preserves the cross-species paths needed by deterministic semantic similarity while excluding unrelated integrated relations. The full upstream graph is not mirrored. + +## Reproducibility + +Every uploaded release is built by `pipelines/build_hf_release.py`. Verify `release-manifest.json` before using the data. The manifest records every payload file and its SHA-256 digest. + +## Licensing and attribution + +Original VariantHound code and documentation are Apache-2.0. Benchmark facts and future processed tables retain their upstream sources' terms and attribution requirements, so the aggregate dataset uses `license: other`. See `docs/DATA.md`, the per-case references, and the source manifest before redistribution or publication. + +OMIA data should cite DOI `10.25910/2AMR-PV70` and acknowledge the Sydney Informatics Hub. OMIA asks users to contact its team about publications that rely on the MySQL dump or extended data. + +## Known limitations + +- Three demonstration cases are not an adequate performance benchmark. +- The ontology vocabulary in the demo is intentionally compact and includes internal `VH:*` terms. +- Canonical gene symbols are not present in the Compara bulk export and remain null until a separately pinned identifier-enrichment source is applied; stable Ensembl gene IDs are the join keys. +- A learned ranking model is not supported by the current sample size. + +See `DATA_CONTRACT.md` for the package layout and field-level expectations. diff --git a/data/benchmark_cases.jsonl b/data/benchmark_cases.jsonl index 24a5b07b8a820e36ce8b64f2f358935a44c13a7b..31c8d95cfa9ecba8f829d91092fab2e3e7c0b2b4 100644 --- a/data/benchmark_cases.jsonl +++ b/data/benchmark_cases.jsonl @@ -1,3 +1,205 @@ -{"breed":"Weimaraner","disease_group_id":"VHCASEGROUP:efnb3-gait","evaluation":{"discovery_mask_disease_ids":[],"discovery_mask_evidence_ids":["dog-efnb3-hopping"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"EFNB3","id":"case-efnb3-gait","label":"Synchronized limb movement","phenotypes":{"excluded":[],"present":["VH:0002002","VH:0002003"]},"publication_year":2025,"reference":{"label":"Schwarz et al. 2025","source_record_id":"PMID:40401490","url":"https://doi.org/10.1002/mds.30243"},"species":"NCBITaxon:9615","summary":"Congenital abnormal gait with synchronized, saltatorial movement of the limbs."} -{"breed":"Mixed-breed litter","disease_group_id":"VHCASEGROUP:lama3-jeb","evaluation":{"discovery_mask_disease_ids":[],"discovery_mask_evidence_ids":["dog-lama3-jeb"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"LAMA3","id":"case-lama3-jeb","label":"Junctional epidermolysis bullosa","phenotypes":{"excluded":["VH:0001005"],"present":["VH:0001001","VH:0001002","VH:0001003","VH:0001004"]},"publication_year":2021,"reference":{"label":"Herrmann et al. 2021","url":"https://doi.org/10.1111/vde.12972"},"species":"NCBITaxon:9615","summary":"Skin and mucosal fragility with blistering and severe upper respiratory involvement."} -{"breed":"Miniature American Shepherd","disease_group_id":"VHCASEGROUP:rnf170-nad","evaluation":{"discovery_mask_disease_ids":[],"discovery_mask_evidence_ids":["dog-rnf170-nad"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"RNF170","id":"case-rnf170-nad","label":"Neuroaxonal dystrophy","phenotypes":{"excluded":[],"present":["VH:0002004","VH:0002005","VH:0002007","VH:0002010","VH:0004000"]},"publication_year":2024,"reference":{"label":"Cook et al. 2024","source_record_id":"PMID:39177409","url":"https://pubmed.ncbi.nlm.nih.gov/39177409/"},"species":"NCBITaxon:9615","summary":"Young-adult onset, slowly progressive pelvic-limb weakness, abnormal gait and ataxia."} +{"breed":"American Staffordshire Terrier, Beagle, Belgian Shepherd Dog, Malinois","disease_group_id":"VHCASEGROUP:omia-31","evaluation":{"discovery_mask_disease_ids":["OMIA:000031-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:e3fbc03b5ef2e5334a822c10371e48120a341d8fe7a5761bde81b9ed451dd88b","OMIA:000031-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845028517","id":"case-omia-000031-mlph","label":"Coat colour, dilution, MLPH-related","phenotypes":{"excluded":[],"present":["HP:0001596","HP:0002232","HP:0002287","HP:0003493","HP:0011123","HP:0032152","HP:5210230"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2007,"reference":{"label":"OMIA:000031-9615","url":"https://omia.org/OMIA000031/9615/"},"species":"NCBITaxon:9615","summary":"Coat colour, dilution, MLPH-related. Expected gene MLPH (ENSCAFG00845028517), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Brittany Spaniel","disease_group_id":"VHCASEGROUP:omia-155","evaluation":{"discovery_mask_disease_ids":["OMIA:000155-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:5c6b88e138996e2055bf55184e244321e58742a12852a337b2a89d50a4c4a0c1","OMIA:000155-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845010104","id":"case-omia-000155-c3","label":"C3 deficiency","phenotypes":{"excluded":[],"present":["HP:0000083","HP:0000793","HP:0002718","HP:0002719"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1998,"reference":{"label":"OMIA:000155-9615","url":"https://omia.org/OMIA000155/9615/"},"species":"NCBITaxon:9615","summary":"C3 deficiency. Expected gene C3 (ENSCAFG00845010104), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Alaskan Husky, Australian Kelpie, Australian Shepherd","disease_group_id":"VHCASEGROUP:omia-218","evaluation":{"discovery_mask_disease_ids":["OMIA:000218-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:47569886170853a701cd4bd035db47f1e4db2285fd6e35508d3420194cbd23fe","OMIA:000218-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845028988","id":"case-omia-000218-nhej1","label":"Choroidal hypoplasia, NHEJ1-related","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0000541","HP:0000588","HP:0001105","HP:0007731","HP:0008052","HP:0012841"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2007,"reference":{"label":"OMIA:000218-9615","url":"https://omia.org/OMIA000218/9615/"},"species":"NCBITaxon:9615","summary":"Choroidal hypoplasia, NHEJ1-related. Expected gene NHEJ1 (ENSCAFG00845028988), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Jack Russell Terrier","disease_group_id":"VHCASEGROUP:omia-220","evaluation":{"discovery_mask_disease_ids":["OMIA:000220-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:a79624599efe348193071fc8ae015d348b53e8a5291cc5d39a159eae10e4095e","OMIA:000220-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845027748","id":"case-omia-000220-prkdc","label":"Severe combined immunodeficiency disease, autosomal, PRKDC-related","phenotypes":{"excluded":[],"present":["HP:0002024","HP:0004430","HP:0005387"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2002,"reference":{"label":"OMIA:000220-9615","url":"https://omia.org/OMIA000220/9615/"},"species":"NCBITaxon:9615","summary":"Severe combined immunodeficiency disease, autosomal, PRKDC-related. Expected gene PRKDC (ENSCAFG00845027748), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Basset Hound, Collie, Mixed Breed","disease_group_id":"VHCASEGROUP:omia-248","evaluation":{"discovery_mask_disease_ids":["OMIA:000248-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:c3011f5db8e91b34afab7145dd52b7998877314ebef994202166fa526cd92502","OMIA:000248-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008344","id":"case-omia-000248-ap3b1","label":"Neutropenia, cyclic","phenotypes":{"excluded":[],"present":["HP:0001954","HP:0006725","HP:0011034","HP:0020116","HP:0040289"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2003,"reference":{"label":"OMIA:000248-9615","url":"https://omia.org/OMIA000248/9615/"},"species":"NCBITaxon:9615","summary":"Neutropenia, cyclic. Expected gene AP3B1 (ENSCAFG00845008344), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"English Bulldog, French Bulldog, Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-256","evaluation":{"discovery_mask_disease_ids":["OMIA:000256-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:baacce7b4cd5b7ac79a442b1875647c72a8fcea7522c43b248ab60307b433dbc","OMIA:000256-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845026546","id":"case-omia-000256-slc3a1","label":"Cystinuria, type I - A","phenotypes":{"excluded":[],"present":["HP:0000083","HP:0000796","HP:0010474","HP:0012072","HP:0012786"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2000,"reference":{"label":"OMIA:000256-9615","url":"https://omia.org/OMIA000256/9615/"},"species":"NCBITaxon:9615","summary":"Cystinuria, type I - A. Expected gene SLC3A1 (ENSCAFG00845026546), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Alaskan Husky, Alaskan Malamute, American Eskimo Dog","disease_group_id":"VHCASEGROUP:omia-263","evaluation":{"discovery_mask_disease_ids":["OMIA:000263-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:23583e392167eaf792203ec8c094562da1a6db01bbf941ebc0e9cdd9268c5372","OMIA:000263-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845022725","id":"case-omia-000263-sod1","label":"Degenerative myelopathy","phenotypes":{"excluded":[],"present":["HP:0000546","HP:0000839","HP:0002070","HP:0002098","HP:0002176","HP:0002313","HP:0002366","HP:0002529","HP:0002540","HP:0002607","HP:0003202","HP:0003474","HP:0003557","HP:0003690","HP:0006827","HP:0007354","HP:0007373","HP:0009830","HP:0040078","HP:0100513"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2009,"reference":{"label":"OMIA:000263-9615","url":"https://omia.org/OMIA000263/9615/"},"species":"NCBITaxon:9615","summary":"Degenerative myelopathy. Expected gene SOD1 (ENSCAFG00845022725), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Alaskan Husky, Alaskan Malamute, American Eskimo Dog","disease_group_id":"VHCASEGROUP:omia-263","evaluation":{"discovery_mask_disease_ids":["OMIA:000263-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b77d0f54db5d71d3d155e99509676f2e42280f3fff764eca3ee1e09e9d6c8e64","OMIA:000263-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845020232","id":"case-omia-000263-sp110","label":"Degenerative myelopathy","phenotypes":{"excluded":[],"present":["HP:0000546","HP:0000839","HP:0002070","HP:0002098","HP:0002176","HP:0002313","HP:0002366","HP:0002529","HP:0002540","HP:0002607","HP:0003202","HP:0003474","HP:0003557","HP:0003690","HP:0006827","HP:0007354","HP:0007373","HP:0009830","HP:0040078","HP:0100513"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2009,"reference":{"label":"OMIA:000263-9615","url":"https://omia.org/OMIA000263/9615/"},"species":"NCBITaxon:9615","summary":"Degenerative myelopathy. Expected gene SP110 (ENSCAFG00845020232), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Chow Chow, Dachshund, French Bulldog","disease_group_id":"VHCASEGROUP:omia-272","evaluation":{"discovery_mask_disease_ids":["OMIA:000272-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:39a896fea41bb6f9dcc5102eeea31dec351c6286c851d1de26cab714d9b324ff","OMIA:000272-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845015136","id":"case-omia-000272-fgf19","label":"Dermoid sinus","phenotypes":{"excluded":[],"present":["HP:0000924","HP:0002098","HP:0002144","HP:0002414","HP:0005857","HP:0006946","HP:0025247"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2007,"reference":{"label":"OMIA:000272-9615","url":"https://omia.org/OMIA000272/9615/"},"species":"NCBITaxon:9615","summary":"Dermoid sinus. Expected gene FGF19 (ENSCAFG00845015136), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Chow Chow, Dachshund, French Bulldog","disease_group_id":"VHCASEGROUP:omia-272","evaluation":{"discovery_mask_disease_ids":["OMIA:000272-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:e8d4db5440474f5d564988c9a2bab3ee2e9c4f91813e40dc9eaa748da1292bef","OMIA:000272-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845015080","id":"case-omia-000272-fgf3","label":"Dermoid sinus","phenotypes":{"excluded":[],"present":["HP:0000924","HP:0002098","HP:0002144","HP:0002414","HP:0005857","HP:0006946","HP:0025247"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2007,"reference":{"label":"OMIA:000272-9615","url":"https://omia.org/OMIA000272/9615/"},"species":"NCBITaxon:9615","summary":"Dermoid sinus. Expected gene FGF3 (ENSCAFG00845015080), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Chow Chow, Dachshund, French Bulldog","disease_group_id":"VHCASEGROUP:omia-272","evaluation":{"discovery_mask_disease_ids":["OMIA:000272-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:f557444dfe720ee01c07447bb7e801219c0c098478aaab29371d9c01ab2f6bcc","OMIA:000272-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845015112","id":"case-omia-000272-fgf4-retrogene-on-cfa12","label":"Dermoid sinus","phenotypes":{"excluded":[],"present":["HP:0000924","HP:0002098","HP:0002144","HP:0002414","HP:0005857","HP:0006946","HP:0025247"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2007,"reference":{"label":"OMIA:000272-9615","url":"https://omia.org/OMIA000272/9615/"},"species":"NCBITaxon:9615","summary":"Dermoid sinus. Expected gene FGF4 retrogene on CFA12 (ENSCAFG00845015112), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Chow Chow, Dachshund, French Bulldog","disease_group_id":"VHCASEGROUP:omia-272","evaluation":{"discovery_mask_disease_ids":["OMIA:000272-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:30ccc50e5db0bd9a840acc3d95a4325c9bf360d57d76e7c2ea8aa55eeee7ef97","OMIA:000272-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845015244","id":"case-omia-000272-oraov1","label":"Dermoid sinus","phenotypes":{"excluded":[],"present":["HP:0000924","HP:0002098","HP:0002144","HP:0002414","HP:0005857","HP:0006946","HP:0025247"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2007,"reference":{"label":"OMIA:000272-9615","url":"https://omia.org/OMIA000272/9615/"},"species":"NCBITaxon:9615","summary":"Dermoid sinus. Expected gene ORAOV1 (ENSCAFG00845015244), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Chinese Crested, Peruvian Hairless Dog, Xoloitzcuintli","disease_group_id":"VHCASEGROUP:omia-323","evaluation":{"discovery_mask_disease_ids":["OMIA:000323-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:f3007a5ae69485f4cbc068afb549046e54bec7dd0eddabfcef1fd10cabe431a3","OMIA:000323-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845013015","id":"case-omia-000323-foxi3","label":"Ectodermal dysplasia","phenotypes":{"excluded":[],"present":["HP:0000164","HP:0000968","HP:0006482","HP:0008070","HP:0100022"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2008,"reference":{"label":"OMIA:000323-9615","url":"https://omia.org/OMIA000323/9615/"},"species":"NCBITaxon:9615","summary":"Ectodermal dysplasia. Expected gene FOXI3 (ENSCAFG00845013015), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Alapaha Blue Blood Bulldog, American Pit Bull Terrier, Catahoula Leopard Dog","disease_group_id":"VHCASEGROUP:omia-328","evaluation":{"discovery_mask_disease_ids":["OMIA:000328-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:84b10808f1253035c43140e997c753fcbdaea4a104f97426685838d8dcdb747e","OMIA:000328-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008674","id":"case-omia-000328-adamts2","label":"Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related","phenotypes":{"excluded":[],"present":["HP:0000974","HP:0001030","HP:0001075","HP:0001382"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2019,"reference":{"label":"OMIA:000328-9615","url":"https://omia.org/OMIA000328/9615/"},"species":"NCBITaxon:9615","summary":"Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related. Expected gene ADAMTS2 (ENSCAFG00845008674), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"English Springer Spaniel","disease_group_id":"VHCASEGROUP:omia-396","evaluation":{"discovery_mask_disease_ids":["OMIA:000396-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b78f4ad21d4f328d95b737c8feff8ba2c4c5c3819a121f25e4c6cf3cf08b21d3","OMIA:000396-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845014722","id":"case-omia-000396-fuca1","label":"Fucosidosis, alpha","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0000529","HP:0001268","HP:0001824","HP:0002024","HP:0002073","HP:0002529","HP:0003202","HP:0003251"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1996,"reference":{"label":"OMIA:000396-9615","url":"https://omia.org/OMIA000396/9615/"},"species":"NCBITaxon:9615","summary":"Fucosidosis, alpha. Expected gene FUCA1 (ENSCAFG00845014722), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Alaskan Husky, Beagle, English Springer Spaniel","disease_group_id":"VHCASEGROUP:omia-402","evaluation":{"discovery_mask_disease_ids":["OMIA:000402-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:e54cda9c635a23f107d9363b1060555682b14952cce5880560183f2838636130","OMIA:000402-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845023378","id":"case-omia-000402-glb1","label":"Gangliosidosis, GM1","phenotypes":{"excluded":[],"present":["HP:0000280","HP:0000943","HP:0001824","HP:0002080","HP:0002136","HP:0002500","HP:0002652","HP:0003690","HP:0004345","HP:0007009","HP:0007957","HP:0012444","HP:0020160","HP:0031361","HP:0034718","HP:0040078"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2000,"reference":{"label":"OMIA:000402-9615","url":"https://omia.org/OMIA000402/9615/"},"species":"NCBITaxon:9615","summary":"Gangliosidosis, GM1. Expected gene GLB1 (ENSCAFG00845023378), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"German Pinscher, Maltese Terrier","disease_group_id":"VHCASEGROUP:omia-418","evaluation":{"discovery_mask_disease_ids":["OMIA:000418-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:a210e8a4ee8f77a7a16409be97ae9df3b1a3f2e180ae7136cd63533f611ab8bc","OMIA:000418-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845006712","id":"case-omia-000418-g6pc","label":"Glycogen storage disease Ia","phenotypes":{"excluded":[],"present":["HP:0000083","HP:0000096","HP:0001402","HP:0001508","HP:0001510","HP:0001988","HP:0003128","HP:0003162","HP:0006568","HP:0008897"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1997,"reference":{"label":"OMIA:000418-9615","url":"https://omia.org/OMIA000418/9615/"},"species":"NCBITaxon:9615","summary":"Glycogen storage disease Ia. Expected gene G6PC (ENSCAFG00845006712), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Finnish Lapphund, Lapponian Herder, Swedish Lapphund","disease_group_id":"VHCASEGROUP:omia-419","evaluation":{"discovery_mask_disease_ids":["OMIA:000419-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:d03c347ffb0e71f722b84961df5217df5717c279e9799f19ddf3588b0e4b5e74","OMIA:000419-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845013429","id":"case-omia-000419-gaa","label":"Glycogen storage disease II","phenotypes":{"excluded":[],"present":["HP:0001324","HP:0003323","HP:0003546"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2013,"reference":{"label":"OMIA:000419-9615","url":"https://omia.org/OMIA000419/9615/"},"species":"NCBITaxon:9615","summary":"Glycogen storage disease II. Expected gene GAA (ENSCAFG00845013429), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"American Cocker Spaniel, Deutscher Wachtelhund, English Cocker Spaniel","disease_group_id":"VHCASEGROUP:omia-421","evaluation":{"discovery_mask_disease_ids":["OMIA:000421-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:994859dcd3eb41ad1eb38db17f07cdff79eb04ac3504b29550f15ee456d1e48f","OMIA:000421-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845022883","id":"case-omia-000421-pfkm","label":"Glycogen storage disease VII","phenotypes":{"excluded":[],"present":["HP:0001324","HP:0001878","HP:0001931","HP:0003202","HP:0003236","HP:0003394","HP:0003546","HP:0004870","HP:0030148","HP:0031664"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1996,"reference":{"label":"OMIA:000421-9615","url":"https://omia.org/OMIA000421/9615/"},"species":"NCBITaxon:9615","summary":"Glycogen storage disease VII. Expected gene PFKM (ENSCAFG00845022883), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Belgian Shepherd Dog, Malinois, Border Collie, Boxer","disease_group_id":"VHCASEGROUP:omia-437","evaluation":{"discovery_mask_disease_ids":["OMIA:000437-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:9d703978d9028caa44384f7212e370c9d5b08bf69535c18bf6deb724f39e4767","OMIA:000437-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845030098","id":"case-omia-000437-f8","label":"Haemophilia A","phenotypes":{"excluded":[],"present":["HP:0001892","HP:0002423","HP:0003560","HP:0003645","HP:0004420","HP:0005542","HP:0007875","HP:0100545"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2002,"reference":{"label":"OMIA:000437-9615","url":"https://omia.org/OMIA000437/9615/"},"species":"NCBITaxon:9615","summary":"Haemophilia A. Expected gene F8 (ENSCAFG00845030098), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Airedale Terrier, Alaskan Malamute, American Cocker Spaniel","disease_group_id":"VHCASEGROUP:omia-438","evaluation":{"discovery_mask_disease_ids":["OMIA:000438-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:aeb0964d94adfc09a6219f3d98101b3871bc5b3ddf4be27c2ce5da01402e396c","OMIA:000438-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845029706","id":"case-omia-000438-f9","label":"Haemophilia B","phenotypes":{"excluded":[],"present":["HP:0001892","HP:0003645","HP:0011858","HP:0012532","HP:0025085"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1989,"reference":{"label":"OMIA:000438-9615","url":"https://omia.org/OMIA000438/9615/"},"species":"NCBITaxon:9615","summary":"Haemophilia B. Expected gene F9 (ENSCAFG00845029706), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"French Bulldog, Giant Schnauzer, Rat Terrier","disease_group_id":"VHCASEGROUP:omia-536","evaluation":{"discovery_mask_disease_ids":["OMIA:000536-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:695022d67fd7f85d87a393ab6fb115cb191b7d99ea2e1f5777f903ecd7ff0d01","OMIA:000536-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845017327","id":"case-omia-000536-tpo","label":"Hypothyroidism, congenital","phenotypes":{"excluded":[],"present":["HP:0000684","HP:0000707","HP:0000819","HP:0000820","HP:0000831","HP:0000832","HP:0000851","HP:0000855","HP:0001288","HP:0001510","HP:0001644","HP:0001650","HP:0001824","HP:0001872","HP:0002206","HP:0002656","HP:0002750","HP:0002925","HP:0003155","HP:0003236","HP:0003270","HP:0003429","HP:0003546","HP:0005990","HP:0006530","HP:0008188","HP:0008251","HP:0010628","HP:0011787","HP:0012224","HP:0100561"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2003,"reference":{"label":"OMIA:000536-9615","url":"https://omia.org/OMIA000536/9615/"},"species":"NCBITaxon:9615","summary":"Hypothyroidism, congenital. Expected gene TPO (ENSCAFG00845017327), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Basset Hound, Belgian Shepherd Dog, Bichon Frise","disease_group_id":"VHCASEGROUP:omia-543","evaluation":{"discovery_mask_disease_ids":["OMIA:000543-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:28ba8cd518cda7679400bfbfffbc846784edbb74035125e8e3ba613a8491561d","OMIA:000543-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845028755","id":"case-omia-000543-eda","label":"Hypohidrotic ectodermal dysplasia, X-linked, EDA-related","phenotypes":{"excluded":[],"present":["HP:0000968","HP:0002205","HP:0002719","HP:0006482","HP:0006532","HP:0011136","HP:0011947","HP:0012804"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2005,"reference":{"label":"OMIA:000543-9615","url":"https://omia.org/OMIA000543/9615/"},"species":"NCBITaxon:9615","summary":"Hypohidrotic ectodermal dysplasia, X-linked, EDA-related. Expected gene EDA (ENSCAFG00845028755), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Australian Shepherd, Giant Schnauzer, Komondor","disease_group_id":"VHCASEGROUP:omia-565","evaluation":{"discovery_mask_disease_ids":["OMIA:000565-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:ddaa57ce998b50baab2dec45c4b32e52c3fdfab285f7d0c4d6bd102dc154589d","OMIA:000565-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845017022","id":"case-omia-000565-amn","label":"Intestinal cobalamin malabsorption, AMN-related","phenotypes":{"excluded":[],"present":["HP:0001508","HP:0001889","HP:0002024","HP:0012120"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2005,"reference":{"label":"OMIA:000565-9615","url":"https://omia.org/OMIA000565/9615/"},"species":"NCBITaxon:9615","summary":"Intestinal cobalamin malabsorption, AMN-related. Expected gene AMN (ENSCAFG00845017022), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Australian Kelpie, Basset Hound, Beagle","disease_group_id":"VHCASEGROUP:omia-578","evaluation":{"discovery_mask_disease_ids":["OMIA:000578-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:9b1b0abd4d1e8f78206dfc0c3921de839d94b125dd97db0fd75bdea0a28488d7","OMIA:000578-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845009690","id":"case-omia-000578-galc","label":"Krabbe disease","phenotypes":{"excluded":[],"present":["HP:0002070","HP:0002073","HP:0002406","HP:0003202","HP:0003690","HP:0009830","HP:0040078"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1996,"reference":{"label":"OMIA:000578-9615","url":"https://omia.org/OMIA000578/9615/"},"species":"NCBITaxon:9615","summary":"Krabbe disease. Expected gene GALC (ENSCAFG00845009690), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"American Toy Terrier, Australian Cattle Dog, Border Collie","disease_group_id":"VHCASEGROUP:omia-588","evaluation":{"discovery_mask_disease_ids":["OMIA:000588-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:0f39ddb9b59aa3c924dd76b5e05b3e2a2809f2d67290d2d0ca1cdba565044e70","OMIA:000588-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845001303","id":"case-omia-000588-adamts17","label":"Lens luxation","phenotypes":{"excluded":[],"present":["HP:0000519","HP:0000541","HP:0000546","HP:0000572","HP:0000924","HP:0001083","HP:0001097","HP:0001105","HP:0007906","HP:0007973","HP:0012019","HP:0012108","HP:0012122","HP:0012804","HP:0200026"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2010,"reference":{"label":"OMIA:000588-9615","url":"https://omia.org/OMIA000588/9615/"},"species":"NCBITaxon:9615","summary":"Lens luxation. Expected gene ADAMTS17 (ENSCAFG00845001303), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Irish Red and White Setter, Irish Setter, Mixed Breed","disease_group_id":"VHCASEGROUP:omia-595","evaluation":{"discovery_mask_disease_ids":["OMIA:000595-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:63b0caaeb451a2040242e71dc083b6a631a138d06d0903fe337005380892643c","OMIA:000595-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845021592","id":"case-omia-000595-itgb2","label":"Leukocyte adhesion deficiency, type I","phenotypes":{"excluded":[],"present":["HP:0002098","HP:0002718","HP:0002719","HP:0003051","HP:0004325","HP:0005406","HP:0032239","HP:0033399"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1999,"reference":{"label":"OMIA:000595-9615","url":"https://omia.org/OMIA000595/9615/"},"species":"NCBITaxon:9615","summary":"Leukocyte adhesion deficiency, type I. Expected gene ITGB2 (ENSCAFG00845021592), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Bernese Mountain Dog, Flat-Coated Retriever, Golden Retriever","disease_group_id":"VHCASEGROUP:omia-620","evaluation":{"discovery_mask_disease_ids":["OMIA:000620-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:e8552946bcc08a7c39d0ec66bee430ec0184287f6cc5408aab99b2849627c770","OMIA:000620-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845024647","id":"case-omia-000620-tp53","label":"Histiocytosis, malignant","phenotypes":{"excluded":[],"present":["HP:0000020","HP:0001385","HP:0001824","HP:0001878","HP:0002202","HP:0002860","HP:0004490","HP:0006775","HP:0012191","HP:0031500","HP:0033662","HP:0033821","HP:0100526","HP:0100721"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2017,"reference":{"label":"OMIA:000620-9615","url":"https://omia.org/OMIA000620/9615/"},"species":"NCBITaxon:9615","summary":"Histiocytosis, malignant. Expected gene TP53 (ENSCAFG00845024647), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Cavalier King Charles Spaniel","disease_group_id":"VHCASEGROUP:omia-640","evaluation":{"discovery_mask_disease_ids":["OMIA:000640-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:7b19f71a72198fa4590da222da8ee453aadd58cb5cb7bcceab41607a7168079b","OMIA:000640-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845020199","id":"case-omia-000640-atp7a","label":"Menkes disease","phenotypes":{"excluded":[],"present":["HP:0000707","HP:0001251","HP:0001508","HP:0002028"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2026,"reference":{"label":"OMIA:000640-9615","url":"https://omia.org/OMIA000640/9615/"},"species":"NCBITaxon:9615","summary":"Menkes disease. Expected gene ATP7A (ENSCAFG00845020199), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Boston Terrier, Doberman Pinscher, Golden Retriever","disease_group_id":"VHCASEGROUP:omia-664","evaluation":{"discovery_mask_disease_ids":["OMIA:000664-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b7e47ba00a28097a2c2e62878e9fd62c07a54804209530598ef066ceb63b7c38","OMIA:000664-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845001029","id":"case-omia-000664-idua","label":"Mucopolysaccharidosis I","phenotypes":{"excluded":[],"present":["HP:0000388","HP:0000389","HP:0000481","HP:0000505","HP:0000924","HP:0001288","HP:0001409","HP:0002120","HP:0002176","HP:0002500","HP:0003414","HP:0004345","HP:0007957","HP:0012447","HP:0032153","HP:0100543"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1992,"reference":{"label":"OMIA:000664-9615","url":"https://omia.org/OMIA000664/9615/"},"species":"NCBITaxon:9615","summary":"Mucopolysaccharidosis I. Expected gene IDUA (ENSCAFG00845001029), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Chesapeake Bay Retriever, Great Dane, Miniature Pinscher","disease_group_id":"VHCASEGROUP:omia-666","evaluation":{"discovery_mask_disease_ids":["OMIA:000666-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:c42453607d25850cd9da98cb5f2b22988682fd4c6d08b0fd7cd47414b01dfeae","OMIA:000666-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845007767","id":"case-omia-000666-arsb","label":"Mucopolysaccharidosis VI","phenotypes":{"excluded":[],"present":["HP:0000924","HP:0001382","HP:0001537","HP:0001953","HP:0002656","HP:0003311","HP:0007957"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2004,"reference":{"label":"OMIA:000666-9615","url":"https://omia.org/OMIA000666/9615/"},"species":"NCBITaxon:9615","summary":"Mucopolysaccharidosis VI. Expected gene ARSB (ENSCAFG00845007767), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Brazilian Terrier, German Shepherd Dog","disease_group_id":"VHCASEGROUP:omia-667","evaluation":{"discovery_mask_disease_ids":["OMIA:000667-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:1752f43bc7d3417d643628464d6623c202376dee6f60a2b6881cfe65cf2d6095","OMIA:000667-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845013255","id":"case-omia-000667-gusb","label":"Mucopolysaccharidosis VII","phenotypes":{"excluded":[],"present":["HP:0000256","HP:0000280","HP:0000283","HP:0000303","HP:0000327","HP:0000369","HP:0000388","HP:0000389","HP:0000470","HP:0000924","HP:0001249","HP:0001263","HP:0001288","HP:0001510","HP:0001653","HP:0001659","HP:0002176","HP:0002652","HP:0002655","HP:0002656","HP:0002758","HP:0004322","HP:0005186","HP:0007759","HP:0007957","HP:0008469","HP:0010807","HP:0032153"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1998,"reference":{"label":"OMIA:000667-9615","url":"https://omia.org/OMIA000667/9615/"},"species":"NCBITaxon:9615","summary":"Mucopolysaccharidosis VII. Expected gene GUSB (ENSCAFG00845013255), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Whippet","disease_group_id":"VHCASEGROUP:omia-683","evaluation":{"discovery_mask_disease_ids":["OMIA:000683-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:052011994b23b30d7d7cc334b6c990ebc528aaf132f164278d7e93b95f48c064","OMIA:000683-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845024446","id":"case-omia-000683-mstn","label":"Muscular hypertrophy (double muscling)","phenotypes":{"excluded":[],"present":["HP:0000472","HP:0003394","HP:0003712"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2007,"reference":{"label":"OMIA:000683-9615","url":"https://omia.org/OMIA000683/9615/"},"species":"NCBITaxon:9615","summary":"Muscular hypertrophy (double muscling). Expected gene MSTN (ENSCAFG00845024446), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"English Springer Spaniel, Heideterrier, Jack Russell Terrier","disease_group_id":"VHCASEGROUP:omia-685","evaluation":{"discovery_mask_disease_ids":["OMIA:000685-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:c041abdf12552a42b5f902952c718b6810cf4b43c0be8c273f77b8011350bbcb","OMIA:000685-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845003576","id":"case-omia-000685-chrne","label":"Myasthenic syndrome, congenital, CHRNE-related","phenotypes":{"excluded":[],"present":["HP:0001324","HP:0003324","HP:0003473","HP:0020174"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:000685-9615","url":"https://omia.org/OMIA000685/9615/"},"species":"NCBITaxon:9615","summary":"Myasthenic syndrome, congenital, CHRNE-related. Expected gene CHRNE (ENSCAFG00845003576), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Basset Hound, Beagle, Brussels Griffon","disease_group_id":"VHCASEGROUP:omia-690","evaluation":{"discovery_mask_disease_ids":["OMIA:000690-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:505451bdb8cd853d3352bc6af00f0df92a9a09311d8a1bf09c8c31646e78a6cf","OMIA:000690-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845028631","id":"case-omia-000690-nhlrc1","label":"Myoclonus epilepsy of Lafora","phenotypes":{"excluded":[],"present":["HP:0000020","HP:0000505","HP:0000572","HP:0000708","HP:0001268","HP:0002069","HP:0002123","HP:0002133","HP:0002197","HP:0007359","HP:0020221","HP:0025112","HP:0025189","HP:0100318"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2005,"reference":{"label":"OMIA:000690-9615","url":"https://omia.org/OMIA000690/9615/"},"species":"NCBITaxon:9615","summary":"Myoclonus epilepsy of Lafora. Expected gene NHLRC1 (ENSCAFG00845028631), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"American Bulldog, Australian Cattle Dog, Border Collie","disease_group_id":"VHCASEGROUP:omia-698","evaluation":{"discovery_mask_disease_ids":["OMIA:000698-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:52556e81b8ccdbfc9b48175ef6f991359b481cc36e82b970fb24e502492f6ae3","OMIA:000698-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845016951","id":"case-omia-000698-clcn1","label":"Myotonia","phenotypes":{"excluded":[],"present":["HP:0000684","HP:0001288","HP:0002015","HP:0003202","HP:0003394","HP:0003552","HP:0003712","HP:0006335","HP:0200136"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1999,"reference":{"label":"OMIA:000698-9615","url":"https://omia.org/OMIA000698/9615/"},"species":"NCBITaxon:9615","summary":"Myotonia. Expected gene CLCN1 (ENSCAFG00845016951), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Afghan Hound, Airedale Terrier, Alaskan Malamute","disease_group_id":"VHCASEGROUP:omia-703","evaluation":{"discovery_mask_disease_ids":["OMIA:000703-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:9ba691665b29d6866861670d6a71b7257d442164307ed24ecfe5641168923479","OMIA:000703-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845011460","id":"case-omia-000703-hcrtr2","label":"Narcolepsy","phenotypes":{"excluded":[],"present":["HP:0001262","HP:0001324","HP:0002330","HP:0002494","HP:0025199","HP:0025233","HP:0040078"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1999,"reference":{"label":"OMIA:000703-9615","url":"https://omia.org/OMIA000703/9615/"},"species":"NCBITaxon:9615","summary":"Narcolepsy. Expected gene HCRTR2 (ENSCAFG00845011460), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Nederlandse Kooikerhondje","disease_group_id":"VHCASEGROUP:omia-706","evaluation":{"discovery_mask_disease_ids":["OMIA:000706-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:bef7490a6fe87c6a008ffe130aeeaa60cc29b807d62e57fb1572e38393b16cf5","OMIA:000706-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845007710","id":"case-omia-000706-iba57","label":"Necrotising myelopathy, IBA57-related","phenotypes":{"excluded":[],"present":["HP:0002073","HP:0002540","HP:0009071"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2023,"reference":{"label":"OMIA:000706-9615","url":"https://omia.org/OMIA000706/9615/"},"species":"NCBITaxon:9615","summary":"Necrotising myelopathy, IBA57-related. Expected gene IBA57 (ENSCAFG00845007710), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"English Cocker Spaniel, Springer Spaniel","disease_group_id":"VHCASEGROUP:omia-770","evaluation":{"discovery_mask_disease_ids":["OMIA:000770-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:447b1553e060de35f9dbb91d908e01f9e36ba6bfe3df96c03392f294f73537f2","OMIA:000770-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845023800","id":"case-omia-000770-plp1","label":"Tremor, X-linked","phenotypes":{"excluded":[],"present":["HP:0003698","HP:0006978","HP:0011364"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1990,"reference":{"label":"OMIA:000770-9615","url":"https://omia.org/OMIA000770/9615/"},"species":"NCBITaxon:9615","summary":"Tremor, X-linked. Expected gene PLP1 (ENSCAFG00845023800), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Bull Terrier, Cairn Terrier, Lagotto Romagnolo","disease_group_id":"VHCASEGROUP:omia-807","evaluation":{"discovery_mask_disease_ids":["OMIA:000807-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:1e3ef36657c4e9c403e880a93bdf4c71435817e1103a2c83c75aa99fe501cc0d","OMIA:000807-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845015847","id":"case-omia-000807-pkd1","label":"Polycystic kidney disease","phenotypes":{"excluded":[],"present":["HP:0000083","HP:0000113","HP:0001399","HP:0001407","HP:0001650","HP:0001718","HP:0003270","HP:0003774","HP:0030148","HP:0032092"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:000807-9615","url":"https://omia.org/OMIA000807/9615/"},"species":"NCBITaxon:9615","summary":"Polycystic kidney disease. Expected gene PKD1 (ENSCAFG00845015847), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Maltese, Mixed Breed, Poodle","disease_group_id":"VHCASEGROUP:omia-809","evaluation":{"discovery_mask_disease_ids":["OMIA:000809-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:3a5d40af99a61e73a20b98445fb6eefc94ef0feb58709a9f35c526e42a822f8a","OMIA:000809-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845015887","id":"case-omia-000809-jak2","label":"Polycythemia","phenotypes":{"excluded":[],"present":["HP:0001898","HP:0001899","HP:0100724"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:000809-9615","url":"https://omia.org/OMIA000809/9615/"},"species":"NCBITaxon:9615","summary":"Polycythemia. Expected gene JAK2 (ENSCAFG00845015887), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Irish Setter","disease_group_id":"VHCASEGROUP:omia-882","evaluation":{"discovery_mask_disease_ids":["OMIA:000882-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:294c6822c91d8ae916be0d2e769f7298d2fba6de2340b49b13762e4235410595","OMIA:000882-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845001610","id":"case-omia-000882-pde6b","label":"Retinal atrophy - Rod-cone dysplasia 1","phenotypes":{"excluded":[],"present":["HP:0000510","HP:0000529","HP:0000546","HP:0000556","HP:0000572","HP:0000608","HP:0001089","HP:0001105"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1993,"reference":{"label":"OMIA:000882-9615","url":"https://omia.org/OMIA000882/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy - Rod-cone dysplasia 1. Expected gene PDE6B (ENSCAFG00845001610), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Basset Hound, Cardigan Welsh Corgi","disease_group_id":"VHCASEGROUP:omia-899","evaluation":{"discovery_mask_disease_ids":["OMIA:000899-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:2b9c5fda1859f68944821d869c502ba2c3af012901044f6f24255ce6101448da","OMIA:000899-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845017057","id":"case-omia-000899-il2rg","label":"Severe combined immunodeficiency disease, X-linked","phenotypes":{"excluded":[],"present":["HP:0001508","HP:0001510","HP:0002719","HP:0002860","HP:0004430","HP:0005387","HP:0005390","HP:0005403","HP:0012190","HP:5210139"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1994,"reference":{"label":"OMIA:000899-9615","url":"https://omia.org/OMIA000899/9615/"},"species":"NCBITaxon:9615","summary":"Severe combined immunodeficiency disease, X-linked. Expected gene IL2RG (ENSCAFG00845017057), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Alaskan Malamute, Chihuahua, Collie","disease_group_id":"VHCASEGROUP:omia-938","evaluation":{"discovery_mask_disease_ids":["OMIA:000938-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:df8c84105b937ce12da822cda8d0573caaee15c8d9cda654b382ea60af2a2b14","OMIA:000938-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845002657","id":"case-omia-000938-nkx2-8","label":"Spinal dysraphism","phenotypes":{"excluded":[],"present":["HP:0000011","HP:0000776","HP:0000902","HP:0002414","HP:0002607","HP:0008467","HP:0010301"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2013,"reference":{"label":"OMIA:000938-9615","url":"https://omia.org/OMIA000938/9615/"},"species":"NCBITaxon:9615","summary":"Spinal dysraphism. Expected gene NKX2-8 (ENSCAFG00845002657), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Golden Retriever, Great Pyrenees, Mixed Breed","disease_group_id":"VHCASEGROUP:omia-1000","evaluation":{"discovery_mask_disease_ids":["OMIA:001000-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:8d16ede6ea96b8fe5d2c7d7b0ff37e5b3d42863863277fdd42018199e65d3210","OMIA:001000-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845007943","id":"case-omia-001000-itga2b","label":"Thrombasthenia","phenotypes":{"excluded":[],"present":["HP:0000225","HP:0001627","HP:0001892","HP:0003540"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2000,"reference":{"label":"OMIA:001000-9615","url":"https://omia.org/OMIA001000/9615/"},"species":"NCBITaxon:9615","summary":"Thrombasthenia. Expected gene ITGA2B (ENSCAFG00845007943), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"American Staffordshire Terrier, Australian Shepherd, Bichon Frise","disease_group_id":"VHCASEGROUP:omia-1033","evaluation":{"discovery_mask_disease_ids":["OMIA:001033-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:14833d1b25d9dcf33359857e816de8d5c54c3cb2adfd051eaa6c1909f1876da4","OMIA:001033-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845002932","id":"case-omia-001033-slc2a9","label":"Urolithiasis","phenotypes":{"excluded":[],"present":["HP:0000010","HP:0000110","HP:0000787","HP:0000791","HP:0000796","HP:0001942","HP:0002597","HP:0008718","HP:0010474","HP:0012587","HP:0034548"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2008,"reference":{"label":"OMIA:001033-9615","url":"https://omia.org/OMIA001033/9615/"},"species":"NCBITaxon:9615","summary":"Urolithiasis. Expected gene SLC2A9 (ENSCAFG00845002932), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Doberman Pinscher, German Shepherd Dog, Golden Retriever","disease_group_id":"VHCASEGROUP:omia-1057","evaluation":{"discovery_mask_disease_ids":["OMIA:001057-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:f3e98fd85f3705249c36dbea81baaacb93cefdc31ed8276eb57d74a8b912934b","OMIA:001057-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845029798","id":"case-omia-001057-vwf","label":"Von Willebrand disease I","phenotypes":{"excluded":[],"present":["HP:0000225","HP:0001643","HP:0001892","HP:0002239","HP:0011896","HP:0030148"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1998,"reference":{"label":"OMIA:001057-9615","url":"https://omia.org/OMIA001057/9615/"},"species":"NCBITaxon:9615","summary":"Von Willebrand disease I. Expected gene VWF (ENSCAFG00845029798), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Bedlington Terrier, Cavalier King Charles Spaniel, Dalmatian","disease_group_id":"VHCASEGROUP:omia-1071","evaluation":{"discovery_mask_disease_ids":["OMIA:001071-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:07b7ab21c4c27aaf1e0dc4b23511b009ace39f685f03699296a176f1eef5ad9d","OMIA:001071-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845020988","id":"case-omia-001071-atp7b","label":"Wilson disease","phenotypes":{"excluded":[],"present":["HP:0001399","HP:0001409","HP:0001824","HP:0002605","HP:0003155","HP:0006554","HP:0011967","HP:0025321","HP:0200120","HP:0200123"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2016,"reference":{"label":"OMIA:001071-9615","url":"https://omia.org/OMIA001071/9615/"},"species":"NCBITaxon:9615","summary":"Wilson disease. Expected gene ATP7B (ENSCAFG00845020988), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Australian Cattle Dog, Australian Labradoodle, Border Collie","disease_group_id":"VHCASEGROUP:omia-1081","evaluation":{"discovery_mask_disease_ids":["OMIA:001081-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:3c4880e3bd95f3f62f6813a4e5fa2124eead43043022e3cbb50b1d5c7f5d0c20","OMIA:001081-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845017750","id":"case-omia-001081-dmd","label":"Muscular dystrophy, Duchenne type","phenotypes":{"excluded":[],"present":["HP:0000510","HP:0000767","HP:0001288","HP:0001324","HP:0001508","HP:0001635","HP:0001644","HP:0001685","HP:0001695","HP:0001824","HP:0002036","HP:0002362","HP:0002505","HP:0002515","HP:0002540","HP:0002878","HP:0003202","HP:0003236","HP:0003323","HP:0003324","HP:0003546","HP:0003552","HP:0003555","HP:0003560","HP:0003690","HP:0003700","HP:0003712","HP:0003756","HP:0003781","HP:0003798","HP:0004308","HP:0005216","HP:0006671","HP:0006690","HP:0006775","HP:0006785","HP:0011951","HP:0020203","HP:0025169","HP:0034392","HP:0100295","HP:0100297","HP:0100543","HP:0100614"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1992,"reference":{"label":"OMIA:001081-9615","url":"https://omia.org/OMIA001081/9615/"},"species":"NCBITaxon:9615","summary":"Muscular dystrophy, Duchenne type. Expected gene DMD (ENSCAFG00845017750), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Alaskan Husky, Yorkshire Terrier","disease_group_id":"VHCASEGROUP:omia-1097","evaluation":{"discovery_mask_disease_ids":["OMIA:001097-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:0de905bcef9958206b615f227d6e29195684c9139999e61f46fab15bbe4bad63","OMIA:001097-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845016955","id":"case-omia-001097-slc19a3","label":"Necrotising encephalopathy, subacute, of Leigh","phenotypes":{"excluded":[],"present":["HP:0001288","HP:0002529","HP:0003287","HP:0003690","HP:0006789","HP:0006976"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2013,"reference":{"label":"OMIA:001097-9615","url":"https://omia.org/OMIA001097/9615/"},"species":"NCBITaxon:9615","summary":"Necrotising encephalopathy, subacute, of Leigh. Expected gene SLC19A3 (ENSCAFG00845016955), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Cocker Spaniel, Navasota (mixed breed), Samoyed","disease_group_id":"VHCASEGROUP:omia-1112","evaluation":{"discovery_mask_disease_ids":["OMIA:001112-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:803d0c363e0ac9a2f014d1a8222dcd9bf12a998b88392241f3f21cdb93a834fb","OMIA:001112-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845020584","id":"case-omia-001112-col4a5","label":"Nephritis, X-linked","phenotypes":{"excluded":[],"present":["HP:0000083","HP:0000097","HP:0000407","HP:0001757","HP:0002907","HP:0003774","HP:0011501","HP:0012622","HP:0032417","HP:0033321","HP:0033495"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1994,"reference":{"label":"OMIA:001112-9615","url":"https://omia.org/OMIA001112/9615/"},"species":"NCBITaxon:9615","summary":"Nephritis, X-linked. Expected gene COL4A5 (ENSCAFG00845020584), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Nova Scotia Duck Tolling Retriever","disease_group_id":"VHCASEGROUP:omia-1140","evaluation":{"discovery_mask_disease_ids":["OMIA:001140-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:6d3fc89cf39b84b61f1e03667bcd826dbdb96a7d364d12dd85857f7fc7d932e1","OMIA:001140-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845029722","id":"case-omia-001140-adamts20","label":"Cleft lip with or without cleft palate, ADAMTS20-related","phenotypes":{"excluded":[],"present":["HP:0000175","HP:0000202","HP:0000324","HP:0410030"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:001140-9615","url":"https://omia.org/OMIA001140/9615/"},"species":"NCBITaxon:9615","summary":"Cleft lip with or without cleft palate, ADAMTS20-related. Expected gene ADAMTS20 (ENSCAFG00845029722), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Beagle, Bernese Mountain Dog, Chihuahua","disease_group_id":"VHCASEGROUP:omia-1208","evaluation":{"discovery_mask_disease_ids":["OMIA:001208-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:ec40967c0b7a415a6a54010f3de02ffdaf8ccdda4519c97de0eb6c7cadf5efed","OMIA:001208-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845006442","id":"case-omia-001208-gfap","label":"Alexander disease","phenotypes":{"excluded":[],"present":["HP:0000707","HP:0001336","HP:0002073","HP:0002878","HP:0003202","HP:0003700","HP:0011951","HP:0100320"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2016,"reference":{"label":"OMIA:001208-9615","url":"https://omia.org/OMIA001208/9615/"},"species":"NCBITaxon:9615","summary":"Alexander disease. Expected gene GFAP (ENSCAFG00845006442), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Briard","disease_group_id":"VHCASEGROUP:omia-1222","evaluation":{"discovery_mask_disease_ids":["OMIA:001222-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:a9b385f6ee7f65eab98fbd5af15edd6c32afc9f18432175fbcc768cdfab9d875","OMIA:001222-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845013646","id":"case-omia-001222-rpe65","label":"Leber congenital amaurosis","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0000510","HP:0000546","HP:0000556","HP:0000662","HP:0001105","HP:0001141","HP:0007642","HP:0007875","HP:0012043","HP:0100513"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1998,"reference":{"label":"OMIA:001222-9615","url":"https://omia.org/OMIA001222/9615/"},"species":"NCBITaxon:9615","summary":"Leber congenital amaurosis. Expected gene RPE65 (ENSCAFG00845013646), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Flat-Coated Retriever, Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-1258","evaluation":{"discovery_mask_disease_ids":["OMIA:001258-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b8645cf2167997b447bbc32dc13ff9380814ba6709ff9cef55d0ec7a85e97f95","OMIA:001258-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845025117","id":"case-omia-001258-adcy3","label":"Obesity","phenotypes":{"excluded":[],"present":["HP:0000819","HP:0001385","HP:0004324"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2016,"reference":{"label":"OMIA:001258-9615","url":"https://omia.org/OMIA001258/9615/"},"species":"NCBITaxon:9615","summary":"Obesity. Expected gene ADCY3 (ENSCAFG00845025117), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Flat-Coated Retriever, Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-1258","evaluation":{"discovery_mask_disease_ids":["OMIA:001258-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b3688d167672e6b73a52a4d91e2a07f2b440d7b3779e46d447f0ca22d6784413","OMIA:001258-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845000932","id":"case-omia-001258-dennd1b","label":"Obesity","phenotypes":{"excluded":[],"present":["HP:0000819","HP:0001385","HP:0004324"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2016,"reference":{"label":"OMIA:001258-9615","url":"https://omia.org/OMIA001258/9615/"},"species":"NCBITaxon:9615","summary":"Obesity. Expected gene DENND1B (ENSCAFG00845000932), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Flat-Coated Retriever, Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-1258","evaluation":{"discovery_mask_disease_ids":["OMIA:001258-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:19b6f2c95fdd5568e11b0625c850eb8d253181985e15535c724665c73abef952","OMIA:001258-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845026092","id":"case-omia-001258-pomc","label":"Obesity","phenotypes":{"excluded":[],"present":["HP:0000819","HP:0001385","HP:0004324"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2016,"reference":{"label":"OMIA:001258-9615","url":"https://omia.org/OMIA001258/9615/"},"species":"NCBITaxon:9615","summary":"Obesity. Expected gene POMC (ENSCAFG00845026092), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"American Hairless Terrier, Rat Terrier, Scottish Deerhound","disease_group_id":"VHCASEGROUP:omia-1279","evaluation":{"discovery_mask_disease_ids":["OMIA:001279-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:d8db99d84f1b2c5fe24732a57e6011c8ffd69314d3694c80153e0eca8d5d67b8","OMIA:001279-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845019652","id":"case-omia-001279-sgk3","label":"Hypotrichosis, recessive","phenotypes":{"excluded":[],"present":["HP:0000968","HP:0001596","HP:0008070"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2017,"reference":{"label":"OMIA:001279-9615","url":"https://omia.org/OMIA001279/9615/"},"species":"NCBITaxon:9615","summary":"Hypotrichosis, recessive. Expected gene SGK3 (ENSCAFG00845019652), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Norwegian Elkhound","disease_group_id":"VHCASEGROUP:omia-1297","evaluation":{"discovery_mask_disease_ids":["OMIA:001297-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:7aa299fbee8b1b1ba1e8e3f527d33a9c074eacacacc31b8ff19e8d7e4c8e35e0","OMIA:001297-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845025108","id":"case-omia-001297-stk38l","label":"Early retinal degeneration","phenotypes":{"excluded":[],"present":["HP:0000510","HP:0000546","HP:0000572","HP:0000662","HP:0001105"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2010,"reference":{"label":"OMIA:001297-9615","url":"https://omia.org/OMIA001297/9615/"},"species":"NCBITaxon:9615","summary":"Early retinal degeneration. Expected gene STK38L (ENSCAFG00845025108), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"American Cocker Spaniel, American Eskimo Dog, Australian Cattle Dog","disease_group_id":"VHCASEGROUP:omia-1298","evaluation":{"discovery_mask_disease_ids":["OMIA:001298-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:acc6e07aa4e0bfedb857b3506a3d28271f8a2156603106cb54e0e06ce458422f","OMIA:001298-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845017103","id":"case-omia-001298-prcd","label":"Progressive rod-cone degeneration, PRCD-related","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0000546","HP:0000572","HP:0000662","HP:0001105","HP:0003002","HP:0012047"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2006,"reference":{"label":"OMIA:001298-9615","url":"https://omia.org/OMIA001298/9615/"},"species":"NCBITaxon:9615","summary":"Progressive rod-cone degeneration, PRCD-related. Expected gene PRCD (ENSCAFG00845017103), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Dachshund, Wire-Haired, Huntaway","disease_group_id":"VHCASEGROUP:omia-1309","evaluation":{"discovery_mask_disease_ids":["OMIA:001309-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:abe2538f301b1ffd7d62e07043fb8799f783944dd7baeed04576a7a9d48325ff","OMIA:001309-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845013218","id":"case-omia-001309-sgsh","label":"Mucopolysaccharidosis IIIA","phenotypes":{"excluded":[],"present":["HP:0001268","HP:0002070","HP:0002080","HP:0002120","HP:0002344","HP:0003651","HP:0007009","HP:6000717"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2000,"reference":{"label":"OMIA:001309-9615","url":"https://omia.org/OMIA001309/9615/"},"species":"NCBITaxon:9615","summary":"Mucopolysaccharidosis IIIA. Expected gene SGSH (ENSCAFG00845013218), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Miniature Schnauzer","disease_group_id":"VHCASEGROUP:omia-1311","evaluation":{"discovery_mask_disease_ids":["OMIA:001311-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:6260acf89e9973da764a7653311e35d56ffeb567c6f36c7e5746a8dda12e3efc","OMIA:001311-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845010701","id":"case-omia-001311-ppt1","label":"Photoreceptor dysplasia, PPT1-related","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0000510","HP:0000546","HP:0001105","HP:0030329"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2019,"reference":{"label":"OMIA:001311-9615","url":"https://omia.org/OMIA001311/9615/"},"species":"NCBITaxon:9615","summary":"Photoreceptor dysplasia, PPT1-related. Expected gene PPT1 (ENSCAFG00845010701), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Cardigan Welsh Corgi, Chinese Crested, Pomeranian","disease_group_id":"VHCASEGROUP:omia-1314","evaluation":{"discovery_mask_disease_ids":["OMIA:001314-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:c4457383e657dc01a657577595aac61bb477da1bb2eb0a2594a8e8b549d30369","OMIA:001314-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008935","id":"case-omia-001314-pde6a","label":"Retinal atrophy - Rod-cone dysplasia 3, PDE6A-related","phenotypes":{"excluded":[],"present":["HP:0000510","HP:0000546","HP:0001105"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1999,"reference":{"label":"OMIA:001314-9615","url":"https://omia.org/OMIA001314/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy - Rod-cone dysplasia 3, PDE6A-related. Expected gene PDE6A (ENSCAFG00845008935), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Australian Shepherd, Beagle, Bichon Frise","disease_group_id":"VHCASEGROUP:omia-1335","evaluation":{"discovery_mask_disease_ids":["OMIA:001335-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:5872d7a0e0f41d2162877a00268bb49cd9b83c940b7ceb3abc532401db2cb4ed","OMIA:001335-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845024691","id":"case-omia-001335-flcn","label":"Renal cystadenocarcinoma and nodular dermatofibrosis","phenotypes":{"excluded":[],"present":["HP:0000131","HP:0001970","HP:0005562","HP:0008069","HP:0009726"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2003,"reference":{"label":"OMIA:001335-9615","url":"https://omia.org/OMIA001335/9615/"},"species":"NCBITaxon:9615","summary":"Renal cystadenocarcinoma and nodular dermatofibrosis. Expected gene FLCN (ENSCAFG00845024691), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Schipperke","disease_group_id":"VHCASEGROUP:omia-1342","evaluation":{"discovery_mask_disease_ids":["OMIA:001342-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:356b624dd2f1dd2d22cc1f906f74dba719621a6b4ed335f6065a521f272aa5a9","OMIA:001342-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008828","id":"case-omia-001342-naglu","label":"Mucopolysaccharidosis IIIB","phenotypes":{"excluded":[],"present":["HP:0000546","HP:0001268","HP:0001272","HP:0002070"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2020,"reference":{"label":"OMIA:001342-9615","url":"https://omia.org/OMIA001342/9615/"},"species":"NCBITaxon:9615","summary":"Mucopolysaccharidosis IIIB. Expected gene NAGLU (ENSCAFG00845008828), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Bull Mastiff, English Mastiff","disease_group_id":"VHCASEGROUP:omia-1346","evaluation":{"discovery_mask_disease_ids":["OMIA:001346-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:6306438c19cd6aff78ee44b2e9c7e2ef399c88c33792a363c8b5d84ec09c9048","OMIA:001346-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845027581","id":"case-omia-001346-rho","label":"Retinal atrophy, progressive, autosomal dominant, RHO-related","phenotypes":{"excluded":[],"present":["HP:0000510","HP:0000572","HP:0001105","HP:0001878"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2002,"reference":{"label":"OMIA:001346-9615","url":"https://omia.org/OMIA001346/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy, progressive, autosomal dominant, RHO-related. Expected gene RHO (ENSCAFG00845027581), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Staffordshire Bull Terrier, West Highland White Terrier, Yorkshire Terrier","disease_group_id":"VHCASEGROUP:omia-1371","evaluation":{"discovery_mask_disease_ids":["OMIA:001371-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:86fedc023b7b371fc5cded22a5ba0eb174d660864114705abc66e68f1578792d","OMIA:001371-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845002841","id":"case-omia-001371-l2hgdh","label":"L-2-hydroxyglutaricacidemia","phenotypes":{"excluded":[],"present":["HP:0000708","HP:0000718","HP:0040144"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2007,"reference":{"label":"OMIA:001371-9615","url":"https://omia.org/OMIA001371/9615/"},"species":"NCBITaxon:9615","summary":"L-2-hydroxyglutaricacidemia. Expected gene L2HGDH (ENSCAFG00845002841), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Greyhound, Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-1373","evaluation":{"discovery_mask_disease_ids":["OMIA:001373-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:95f25903bbcc8a97d6be461c29b15918708454678e1514968310431ec6a1d877","OMIA:001373-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845014927","id":"case-omia-001373-suv39h2","label":"Nasal parakeratosis","phenotypes":{"excluded":[],"present":["HP:0001051","HP:0007417","HP:0040009"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2013,"reference":{"label":"OMIA:001373-9615","url":"https://omia.org/OMIA001373/9615/"},"species":"NCBITaxon:9615","summary":"Nasal parakeratosis. Expected gene SUV39H2 (ENSCAFG00845014927), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-1374","evaluation":{"discovery_mask_disease_ids":["OMIA:001374-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b13a3fe19e92eb84910e6d7fe3f90f232ec7cf4a28937332b56d2bb95d535077","OMIA:001374-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845013804","id":"case-omia-001374-hacd1","label":"Centronuclear myopathy, HACD1-related","phenotypes":{"excluded":[],"present":["HP:0000234","HP:0001288","HP:0001324","HP:0001699","HP:0002540","HP:0003202","HP:0003324","HP:0003546","HP:0003557","HP:0003560","HP:0003687","HP:0006785","HP:0033685"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2005,"reference":{"label":"OMIA:001374-9615","url":"https://omia.org/OMIA001374/9615/"},"species":"NCBITaxon:9615","summary":"Centronuclear myopathy, HACD1-related. Expected gene HACD1 (ENSCAFG00845013804), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Australian Shepherd, Border Collie, Collie","disease_group_id":"VHCASEGROUP:omia-1402","evaluation":{"discovery_mask_disease_ids":["OMIA:001402-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:f8321ed879d7205639d8c041943c2fb907cf5f12ab69eb68a6915d120ab1234d","OMIA:001402-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845007972","id":"case-omia-001402-abcb1","label":"Multidrug resistance 1, ABCB1-related","phenotypes":{"excluded":[],"present":["HP:0000510","HP:0000707","HP:0001105","HP:0001288","HP:0002133","HP:0003376","HP:0020174"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2001,"reference":{"label":"OMIA:001402-9615","url":"https://omia.org/OMIA001402/9615/"},"species":"NCBITaxon:9615","summary":"Multidrug resistance 1, ABCB1-related. Expected gene ABCB1 (ENSCAFG00845007972), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Clumber Spaniel, Sussex Spaniel","disease_group_id":"VHCASEGROUP:omia-1406","evaluation":{"discovery_mask_disease_ids":["OMIA:001406-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:d82ccffa1c1dc1ddcccd7684287affbef495403668f60c32e33adc2f113febcc","OMIA:001406-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845014567","id":"case-omia-001406-pdp1","label":"Pyruvate dehydrogenase deficiency","phenotypes":{"excluded":[],"present":["HP:0003128","HP:0003546","HP:0003737"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2007,"reference":{"label":"OMIA:001406-9615","url":"https://omia.org/OMIA001406/9615/"},"species":"NCBITaxon:9615","summary":"Pyruvate dehydrogenase deficiency. Expected gene PDP1 (ENSCAFG00845014567), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Border Collie, Huntaway, New Zealand Heading Dog","disease_group_id":"VHCASEGROUP:omia-1428","evaluation":{"discovery_mask_disease_ids":["OMIA:001428-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b006511830b004d83be32c4c853f8a959a47aa2134dc3b77950447cb70af719d","OMIA:001428-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845025516","id":"case-omia-001428-vps13b","label":"Trapped Neutrophil Syndrome","phenotypes":{"excluded":[],"present":["HP:0001249","HP:0001288","HP:0001386","HP:0001508","HP:0001875","HP:0002718","HP:0002719","HP:0003095","HP:0031020","HP:0040289","HP:0410252"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:001428-9615","url":"https://omia.org/OMIA001428/9615/"},"species":"NCBITaxon:9615","summary":"Trapped Neutrophil Syndrome. Expected gene VPS13B (ENSCAFG00845025516), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Dachshund, Miniature Long-Haired, English Springer Spaniel","disease_group_id":"VHCASEGROUP:omia-1432","evaluation":{"discovery_mask_disease_ids":["OMIA:001432-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:c05e4a1f768c6c16061a108b14496f5f239d63118b71084d29b0df2b7a6469c5","OMIA:001432-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845010211","id":"case-omia-001432-map9","label":"Retinal atrophy - Cone-rod dystrophy 4","phenotypes":{"excluded":[],"present":["HP:0000510","HP:0000546","HP:0000548","HP:0000648","HP:0001105","HP:0007875","HP:0012019"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2006,"reference":{"label":"OMIA:001432-9615","url":"https://omia.org/OMIA001432/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy - Cone-rod dystrophy 4. Expected gene MAP9 (ENSCAFG00845010211), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Dachshund, Miniature Long-Haired, English Springer Spaniel","disease_group_id":"VHCASEGROUP:omia-1432","evaluation":{"discovery_mask_disease_ids":["OMIA:001432-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:3d805352e58968583a1ce460b079bcfd0b23fcc1d5d34001032a6c124deed4e6","OMIA:001432-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845025061","id":"case-omia-001432-rpgrip1","label":"Retinal atrophy - Cone-rod dystrophy 4","phenotypes":{"excluded":[],"present":["HP:0000510","HP:0000546","HP:0000548","HP:0000648","HP:0001105","HP:0007875","HP:0012019"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2006,"reference":{"label":"OMIA:001432-9615","url":"https://omia.org/OMIA001432/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy - Cone-rod dystrophy 4. Expected gene RPGRIP1 (ENSCAFG00845025061), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Australian Shepherd, Schapendoes","disease_group_id":"VHCASEGROUP:omia-1443","evaluation":{"discovery_mask_disease_ids":["OMIA:001443-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:92dfbdc7bcbe50c9e7b7d7fc264afe7ca318268877385fac860c088c1433d86f","OMIA:001443-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845018935","id":"case-omia-001443-cln6","label":"Neuronal ceroid lipofuscinosis, 6","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0002283","HP:0012444","HP:0100543"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:001443-9615","url":"https://omia.org/OMIA001443/9615/"},"species":"NCBITaxon:9615","summary":"Neuronal ceroid lipofuscinosis, 6. Expected gene CLN6 (ENSCAFG00845018935), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Dachshund, Miniature Wire-Haired, Dachshund, Standard Wire-Haired","disease_group_id":"VHCASEGROUP:omia-1455","evaluation":{"discovery_mask_disease_ids":["OMIA:001455-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:26fba41e9e1a1fd19207454a75249c596d096fe95c73edb046a291a8aede6c09","OMIA:001455-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845021358","id":"case-omia-001455-nphp4","label":"Retinal atrophy - Cone-rod dystrophy, NPHP4-related","phenotypes":{"excluded":[],"present":["HP:0000548","HP:0001105","HP:0012047"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2008,"reference":{"label":"OMIA:001455-9615","url":"https://omia.org/OMIA001455/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy - Cone-rod dystrophy, NPHP4-related. Expected gene NPHP4 (ENSCAFG00845021358), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Border Collie, Boykin Spaniel, Chesapeake Bay Retriever","disease_group_id":"VHCASEGROUP:omia-1466","evaluation":{"discovery_mask_disease_ids":["OMIA:001466-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:698be0ef5fb47ddaee65b7aa3db8a8eff5c7cdf5adfe3193a6bc64c8c05ec42f","OMIA:001466-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845029334","id":"case-omia-001466-dnm1","label":"Exercise-induced collapse","phenotypes":{"excluded":[],"present":["HP:0001252","HP:0001288","HP:0001324","HP:0001950","HP:0003546","HP:0007185","HP:0011703"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2008,"reference":{"label":"OMIA:001466-9615","url":"https://omia.org/OMIA001466/9615/"},"species":"NCBITaxon:9615","summary":"Exercise-induced collapse. Expected gene DNM1 (ENSCAFG00845029334), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Chinese Crested, Ibizan Hound, Kerry Blue Terrier","disease_group_id":"VHCASEGROUP:omia-1468","evaluation":{"discovery_mask_disease_ids":["OMIA:001468-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:ccea39a9a9e54be761f12b1f7710abc143fe05f1c7ce5c10cbc8608a9afe2828","OMIA:001468-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845001134","id":"case-omia-001468-serac1","label":"Multiple system degeneration, SERAC1-related","phenotypes":{"excluded":[],"present":["HP:0000164","HP:0000968","HP:0001251","HP:0001272","HP:0002059","HP:0002080","HP:0002529","HP:0003535","HP:0008070","HP:0008303","HP:0100022"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2013,"reference":{"label":"OMIA:001468-9615","url":"https://omia.org/OMIA001468/9615/"},"species":"NCBITaxon:9615","summary":"Multiple system degeneration, SERAC1-related. Expected gene SERAC1 (ENSCAFG00845001134), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Poodle, Standard","disease_group_id":"VHCASEGROUP:omia-1471","evaluation":{"discovery_mask_disease_ids":["OMIA:001471-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b63cd321dba18ec737dd16b4498c3b5801644f49e2f5fc0016e1623327f1e1c4","OMIA:001471-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845017708","id":"case-omia-001471-atf2","label":"Neonatal encephalopathy with seizures, ATF2-related","phenotypes":{"excluded":[],"present":["HP:0001324","HP:0002119","HP:0002539","HP:0003327","HP:0200134"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2008,"reference":{"label":"OMIA:001471-9615","url":"https://omia.org/OMIA001471/9615/"},"species":"NCBITaxon:9615","summary":"Neonatal encephalopathy with seizures, ATF2-related. Expected gene ATF2 (ENSCAFG00845017708), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Dachshund","disease_group_id":"VHCASEGROUP:omia-1472","evaluation":{"discovery_mask_disease_ids":["OMIA:001472-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:c0ae8bc930b48ae016139d906451ab536aaea97549aa9a191499f12a83ad3d56","OMIA:001472-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008889","id":"case-omia-001472-tpp1","label":"Neuronal ceroid lipofuscinosis, 2","phenotypes":{"excluded":[],"present":["HP:0000529","HP:0000541","HP:0000546","HP:0000572","HP:0000654","HP:0000718","HP:0001105","HP:0001251","HP:0001268","HP:0002123","HP:0002344","HP:0002383","HP:0012444","HP:0030329","HP:0100543"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2006,"reference":{"label":"OMIA:001472-9615","url":"https://omia.org/OMIA001472/9615/"},"species":"NCBITaxon:9615","summary":"Neuronal ceroid lipofuscinosis, 2. Expected gene TPP1 (ENSCAFG00845008889), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Brussels Griffon, Chihuahua, Petit Brabancon","disease_group_id":"VHCASEGROUP:omia-1473","evaluation":{"discovery_mask_disease_ids":["OMIA:001473-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:7d86125a213427bf6249c622796dfbe08d2bb2242198be1dfebe317232ae0120","OMIA:001473-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845021230","id":"case-omia-001473-gh1","label":"Dwarfism, growth-hormone deficiency","phenotypes":{"excluded":[],"present":["HP:0000270","HP:0000824","HP:0006335","HP:0030353"]},"provenance":{"mode_1_is_circular":false,"phenotype_source":"omia-structured"},"publication_year":2020,"reference":{"label":"OMIA:001473-9615","url":"https://omia.org/OMIA001473/9615/"},"species":"NCBITaxon:9615","summary":"Dwarfism, growth-hormone deficiency. Expected gene GH1 (ENSCAFG00845021230), corroborated by both crosswalk providers. Phenotypes are OMIA structured annotations."} +{"breed":"German Shepherd Dog, Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-1481","evaluation":{"discovery_mask_disease_ids":["OMIA:001481-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:938ba18c8dbf467dc636daca1807ebf3125f6dccfecf1aef9a350aaeb9306108","OMIA:001481-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845020028","id":"case-omia-001481-cnga3","label":"Achromatopsia-2, CNGA3-related","phenotypes":{"excluded":[],"present":["HP:0001141","HP:0007641","HP:0007663"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:001481-9615","url":"https://omia.org/OMIA001481/9615/"},"species":"NCBITaxon:9615","summary":"Achromatopsia-2, CNGA3-related. Expected gene CNGA3 (ENSCAFG00845020028), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Australian Cattle Dog, Border Collie, Golden Retriever","disease_group_id":"VHCASEGROUP:omia-1482","evaluation":{"discovery_mask_disease_ids":["OMIA:001482-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:d72ffb3fce2ee534f9e29c1365a9f924dd3f6ef260b0936ade000065350ffc17","OMIA:001482-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845026181","id":"case-omia-001482-cln5","label":"Neuronal ceroid lipofuscinosis, 5","phenotypes":{"excluded":[],"present":["HP:0000713","HP:0000718","HP:0000722","HP:0000733","HP:0000739","HP:0001272","HP:0002069","HP:0002119","HP:0002283","HP:0002311","HP:0002312","HP:0007015","HP:0007359","HP:0010544","HP:0011512","HP:0033044","HP:0034332","HP:0100754"]},"provenance":{"mode_1_is_circular":false,"phenotype_source":"omia-structured"},"publication_year":2005,"reference":{"label":"OMIA:001482-9615","url":"https://omia.org/OMIA001482/9615/"},"species":"NCBITaxon:9615","summary":"Neuronal ceroid lipofuscinosis, 5. Expected gene CLN5 (ENSCAFG00845026181), corroborated by both crosswalk providers. Phenotypes are OMIA structured annotations."} +{"breed":"Dachshund","disease_group_id":"VHCASEGROUP:omia-1483","evaluation":{"discovery_mask_disease_ids":["OMIA:001483-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:ad813e0fce78685655026413c826a9bcb0e476e619b70a4835f600bcc303c05c","OMIA:001483-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845011365","id":"case-omia-001483-serpinh1","label":"Osteogenesis imperfecta, SERPINH1-related","phenotypes":{"excluded":[],"present":["HP:0000703","HP:0000938","HP:0001382","HP:0001730","HP:0002659","HP:0002757"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2009,"reference":{"label":"OMIA:001483-9615","url":"https://omia.org/OMIA001483/9615/"},"species":"NCBITaxon:9615","summary":"Osteogenesis imperfecta, SERPINH1-related. Expected gene SERPINH1 (ENSCAFG00845011365), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Dalmatian, Dogo Argentino","disease_group_id":"VHCASEGROUP:omia-1485","evaluation":{"discovery_mask_disease_ids":["OMIA:001485-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:ecb8b2db0e1f71a2135b2a6cdd1120144c1828dea879265fdf8a9b6e10ccbf8d","OMIA:001485-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845018088","id":"case-omia-001485-prkg2","label":"Dwarfism, PRKG2-related","phenotypes":{"excluded":[],"present":["HP:0001288","HP:0002652","HP:0004322","HP:0006385"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2021,"reference":{"label":"OMIA:001485-9615","url":"https://omia.org/OMIA001485/9615/"},"species":"NCBITaxon:9615","summary":"Dwarfism, PRKG2-related. Expected gene PRKG2 (ENSCAFG00845018088), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Beagle","disease_group_id":"VHCASEGROUP:omia-1486","evaluation":{"discovery_mask_disease_ids":["OMIA:001486-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:6be9e4c2268f9070e2ba61502006ba57ad31953d853f252f3721413abde22b70","OMIA:001486-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845030077","id":"case-omia-001486-lrit3","label":"Night blindness, congenital stationary, LRIT3-related","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0000662","HP:0007642"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2019,"reference":{"label":"OMIA:001486-9615","url":"https://omia.org/OMIA001486/9615/"},"species":"NCBITaxon:9615","summary":"Night blindness, congenital stationary, LRIT3-related. Expected gene LRIT3 (ENSCAFG00845030077), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"American Staffordshire Terrier","disease_group_id":"VHCASEGROUP:omia-1503","evaluation":{"discovery_mask_disease_ids":["OMIA:001503-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:c00c3207079fb5a2538582d6790befa318bb161f0007418a8744e81cada6538e","OMIA:001503-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845029010","id":"case-omia-001503-arsg","label":"Lysosomal storage disease, ARSG related","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0000510","HP:0000529","HP:0000572","HP:0000640","HP:0000708","HP:0001251","HP:0001272","HP:0001288","HP:0002073","HP:0002080","HP:0002333","HP:0002529"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2010,"reference":{"label":"OMIA:001503-9615","url":"https://omia.org/OMIA001503/9615/"},"species":"NCBITaxon:9615","summary":"Lysosomal storage disease, ARSG related. Expected gene ARSG (ENSCAFG00845029010), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Dachshund, Italian Cane Corso","disease_group_id":"VHCASEGROUP:omia-1504","evaluation":{"discovery_mask_disease_ids":["OMIA:001504-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:c5e8e2f256d1dee5b35c4dcc3e2f32847735b14fbe6967bc04f01adbe3427c8c","OMIA:001504-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845010701","id":"case-omia-001504-ppt1","label":"Neuronal ceroid lipofuscinosis, 1","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0000529","HP:0000618","HP:0000728","HP:0000739","HP:0001251","HP:0001337","HP:0002311","HP:0002457","HP:0002509","HP:0003204","HP:0003324","HP:0003551","HP:0008046","HP:0030329","HP:0033044","HP:0033329","HP:0034332"]},"provenance":{"mode_1_is_circular":false,"phenotype_source":"omia-structured"},"publication_year":2010,"reference":{"label":"OMIA:001504-9615","url":"https://omia.org/OMIA001504/9615/"},"species":"NCBITaxon:9615","summary":"Neuronal ceroid lipofuscinosis, 1. Expected gene PPT1 (ENSCAFG00845010701), corroborated by both crosswalk providers. Phenotypes are OMIA structured annotations."} +{"breed":"Alpine Dachsbracke, Australian Shepherd, English Setter","disease_group_id":"VHCASEGROUP:omia-1506","evaluation":{"discovery_mask_disease_ids":["OMIA:001506-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:c0bb6e8f87bc416291eb1124518d8390d95be589a3678b937d0a57be4b1bb715","OMIA:001506-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845019093","id":"case-omia-001506-cln8","label":"Neuronal ceroid lipofuscinosis, 8","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0000510","HP:0000546","HP:0000572","HP:0000708","HP:0000726","HP:0001105","HP:0001268","HP:0001324","HP:0002059","HP:0002529","HP:0007190","HP:0008020","HP:0012444"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2005,"reference":{"label":"OMIA:001506-9615","url":"https://omia.org/OMIA001506/9615/"},"species":"NCBITaxon:9615","summary":"Neuronal ceroid lipofuscinosis, 8. Expected gene CLN8 (ENSCAFG00845019093), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Boykin Spaniel, Labrador Retriever, Rottweiler","disease_group_id":"VHCASEGROUP:omia-1508","evaluation":{"discovery_mask_disease_ids":["OMIA:001508-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:92841ce3526afd2919714cc999404f282eef6c819c60bc79162cb47d0fbf5efd","OMIA:001508-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845023123","id":"case-omia-001508-mtm1","label":"Myotubular myopathy 1","phenotypes":{"excluded":[],"present":["HP:0001324","HP:0002878","HP:0003202","HP:0003324","HP:0003736"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2010,"reference":{"label":"OMIA:001508-9615","url":"https://omia.org/OMIA001508/9615/"},"species":"NCBITaxon:9615","summary":"Myotubular myopathy 1. Expected gene MTM1 (ENSCAFG00845023123), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Beagle","disease_group_id":"VHCASEGROUP:omia-1509","evaluation":{"discovery_mask_disease_ids":["OMIA:001509-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:eb6ae13e5fc05fd7b327039b4a29edb8cb48c64e525149a43c802d1cc5738d0e","OMIA:001509-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845010741","id":"case-omia-001509-adamtsl2","label":"Geleophysic dysplasia, ADMATSL2-related","phenotypes":{"excluded":[],"present":["HP:0000028","HP:0001387","HP:0004322","HP:0030051","HP:0030053","HP:0031295"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2010,"reference":{"label":"OMIA:001509-9615","url":"https://omia.org/OMIA001509/9615/"},"species":"NCBITaxon:9615","summary":"Geleophysic dysplasia, ADMATSL2-related. Expected gene ADAMTSL2 (ENSCAFG00845010741), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Beagle, Scottish Terrier, Shetland Sheepdog","disease_group_id":"VHCASEGROUP:omia-1512","evaluation":{"discovery_mask_disease_ids":["OMIA:001512-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:a2fdb7fa5c44ee4e04092c99fe0f81b8cb493dc668d19a406b0b09ca2ba66bcc","OMIA:001512-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845031038","id":"case-omia-001512-braf","label":"Transitional cell carcinoma","phenotypes":{"excluded":[],"present":["HP:0002860","HP:0006740","HP:0009725","HP:0010474","HP:0012125","HP:0020174","HP:0100515"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:001512-9615","url":"https://omia.org/OMIA001512/9615/"},"species":"NCBITaxon:9615","summary":"Transitional cell carcinoma. Expected gene BRAF (ENSCAFG00845031038), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Beagle, Scottish Terrier, Shetland Sheepdog","disease_group_id":"VHCASEGROUP:omia-1512","evaluation":{"discovery_mask_disease_ids":["OMIA:001512-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:69a9f52bbe723522be0084c71ece9baf8e6ba8b4a9441447388ebf053d9247a8","OMIA:001512-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845015371","id":"case-omia-001512-map2k1","label":"Transitional cell carcinoma","phenotypes":{"excluded":[],"present":["HP:0002860","HP:0006740","HP:0009725","HP:0010474","HP:0012125","HP:0020174","HP:0100515"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:001512-9615","url":"https://omia.org/OMIA001512/9615/"},"species":"NCBITaxon:9615","summary":"Transitional cell carcinoma. Expected gene MAP2K1 (ENSCAFG00845015371), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Beagle, Scottish Terrier, Shetland Sheepdog","disease_group_id":"VHCASEGROUP:omia-1512","evaluation":{"discovery_mask_disease_ids":["OMIA:001512-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:e02332492eb70740f7159adbcf8d826e8aeca57d884461705ba4000faea2cc20","OMIA:001512-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845009684","id":"case-omia-001512-nipal1","label":"Transitional cell carcinoma","phenotypes":{"excluded":[],"present":["HP:0002860","HP:0006740","HP:0009725","HP:0010474","HP:0012125","HP:0020174","HP:0100515"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:001512-9615","url":"https://omia.org/OMIA001512/9615/"},"species":"NCBITaxon:9615","summary":"Transitional cell carcinoma. Expected gene NIPAL1 (ENSCAFG00845009684), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Portuguese Water Dog, Schapendoes","disease_group_id":"VHCASEGROUP:omia-1521","evaluation":{"discovery_mask_disease_ids":["OMIA:001521-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:7b573862a89dcd08e0ec6118a56351e0b9d00e0b0423ffdf2622f02a6fab257a","OMIA:001521-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845024810","id":"case-omia-001521-ccdc66","label":"Retinal atrophy, progressive, CCDC66-related","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0000529","HP:0000543","HP:0000572","HP:0000662","HP:0001105"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2010,"reference":{"label":"OMIA:001521-9615","url":"https://omia.org/OMIA001521/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy, progressive, CCDC66-related. Expected gene CCDC66 (ENSCAFG00845024810), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Labrador Retriever, Northern Inuit Dog","disease_group_id":"VHCASEGROUP:omia-1522","evaluation":{"discovery_mask_disease_ids":["OMIA:001522-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:7f3fcbd9cea3e49fbb8333da8a6146f93752f25b71832eead45849b7af509843","OMIA:001522-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845018010","id":"case-omia-001522-col9a3","label":"Oculoskeletal dysplasia 1","phenotypes":{"excluded":[],"present":["HP:0000541","HP:0000924","HP:0001263","HP:0001385","HP:0001510","HP:0002652","HP:0002984","HP:0007968","HP:0008873","HP:0030832","HP:0100719"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2010,"reference":{"label":"OMIA:001522-9615","url":"https://omia.org/OMIA001522/9615/"},"species":"NCBITaxon:9615","summary":"Oculoskeletal dysplasia 1. Expected gene COL9A3 (ENSCAFG00845018010), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Samoyed","disease_group_id":"VHCASEGROUP:omia-1523","evaluation":{"discovery_mask_disease_ids":["OMIA:001523-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:0b806b992b28a08e95f89106be3edde7f1bf1d4ce9c3955fe8a6863465364ea9","OMIA:001523-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845010158","id":"case-omia-001523-col9a2","label":"Oculoskeletal dysplasia 2","phenotypes":{"excluded":[],"present":["HP:0000541","HP:0001510","HP:0002652","HP:0002984","HP:0004322","HP:0008873"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2010,"reference":{"label":"OMIA:001523-9615","url":"https://omia.org/OMIA001523/9615/"},"species":"NCBITaxon:9615","summary":"Oculoskeletal dysplasia 2. Expected gene COL9A2 (ENSCAFG00845010158), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Cairn Terrier, Cocker Spaniel, Miniature Schnauzer","disease_group_id":"VHCASEGROUP:omia-1524","evaluation":{"discovery_mask_disease_ids":["OMIA:001524-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:bfda8930c651a47d108ea3947856700372efc18be9ad6f22aba59144a3e5e2b0","OMIA:001524-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845007730","id":"case-omia-001524-abcb4","label":"Gallbladder mucoceles","phenotypes":{"excluded":[],"present":["HP:0000083","HP:0001919","HP:0002027","HP:0002910","HP:0003270"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2010,"reference":{"label":"OMIA:001524-9615","url":"https://omia.org/OMIA001524/9615/"},"species":"NCBITaxon:9615","summary":"Gallbladder mucoceles. Expected gene ABCB4 (ENSCAFG00845007730), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Old English Sheepdog","disease_group_id":"VHCASEGROUP:omia-1540","evaluation":{"discovery_mask_disease_ids":["OMIA:001540-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:192b094437aafe8408938553b09016d38df756de92db488e1b612d304147a40c","OMIA:001540-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845018860","id":"case-omia-001540-ccdc39","label":"Ciliary dyskinesia, primary, CCDC39-related","phenotypes":{"excluded":[],"present":["HP:0002257","HP:0002719","HP:0012265","HP:0031417"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:001540-9615","url":"https://omia.org/OMIA001540/9615/"},"species":"NCBITaxon:9615","summary":"Ciliary dyskinesia, primary, CCDC39-related. Expected gene CCDC39 (ENSCAFG00845018860), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"not stated","disease_group_id":"VHCASEGROUP:omia-1551","evaluation":{"discovery_mask_disease_ids":["OMIA:001551-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b14f7b3929710a1a349924c78c26b592e177036f5f4b680fe31f94632b5f4484","OMIA:001551-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845020074","id":"case-omia-001551-dvl2","label":"Brachycephaly","phenotypes":{"excluded":[],"present":["HP:0000175","HP:0000303","HP:0000327","HP:0000388","HP:0000457","HP:0000708","HP:0001627","HP:0001699","HP:0002046","HP:0002098","HP:0002197","HP:0002277","HP:0002682","HP:0002870","HP:0003196","HP:0003468","HP:0003546","HP:0005321","HP:0006511","HP:0006536","HP:0008873","HP:0010535","HP:0010628","HP:0011219","HP:0011410","HP:0011496","HP:0012368","HP:0012804","HP:0031353","HP:0410017","HP:0410030","HP:5210257"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2012,"reference":{"label":"OMIA:001551-9615","url":"https://omia.org/OMIA001551/9615/"},"species":"NCBITaxon:9615","summary":"Brachycephaly. Expected gene DVL2 (ENSCAFG00845020074), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"not stated","disease_group_id":"VHCASEGROUP:omia-1551","evaluation":{"discovery_mask_disease_ids":["OMIA:001551-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:09e1c822c5fef333260110f9ec1967229f46781e62601a4dd52212d8086c9c8d","OMIA:001551-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845005168","id":"case-omia-001551-smoc2","label":"Brachycephaly","phenotypes":{"excluded":[],"present":["HP:0000175","HP:0000303","HP:0000327","HP:0000388","HP:0000457","HP:0000708","HP:0001627","HP:0001699","HP:0002046","HP:0002098","HP:0002197","HP:0002277","HP:0002682","HP:0002870","HP:0003196","HP:0003468","HP:0003546","HP:0005321","HP:0006511","HP:0006536","HP:0008873","HP:0010535","HP:0010628","HP:0011219","HP:0011410","HP:0011496","HP:0012368","HP:0012804","HP:0031353","HP:0410017","HP:0410030","HP:5210257"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2012,"reference":{"label":"OMIA:001551-9615","url":"https://omia.org/OMIA001551/9615/"},"species":"NCBITaxon:9615","summary":"Brachycephaly. Expected gene SMOC2 (ENSCAFG00845005168), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Australian Cattle Dog, Tibetan Terrier","disease_group_id":"VHCASEGROUP:omia-1552","evaluation":{"discovery_mask_disease_ids":["OMIA:001552-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b3fc2d8c42a8983ac43130cf19cf5556dd69aacc906c8511c256538167d70594","OMIA:001552-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845004285","id":"case-omia-001552-atp13a2","label":"Neuronal ceroid lipofuscinosis, 12","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0000529","HP:0000546","HP:0000572","HP:0000708","HP:0001105","HP:0001251","HP:0001268","HP:0001272","HP:0002073","HP:0002283","HP:0002344","HP:0002529","HP:0012444","HP:0030515"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:001552-9615","url":"https://omia.org/OMIA001552/9615/"},"species":"NCBITaxon:9615","summary":"Neuronal ceroid lipofuscinosis, 12. Expected gene ATP13A2 (ENSCAFG00845004285), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Chinese Shar-Pei","disease_group_id":"VHCASEGROUP:omia-1561","evaluation":{"discovery_mask_disease_ids":["OMIA:001561-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:3ce23fb3e75f09f2b659cdc01149653ec623f11c51f5f4e5bc6bc8eaaa8db443","OMIA:001561-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008598","id":"case-omia-001561-has2","label":"Periodic Fever Syndrome","phenotypes":{"excluded":[],"present":["HP:0000083","HP:0000100","HP:0001072","HP:0001369","HP:0001917","HP:0001954","HP:0011034","HP:0032323"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:001561-9615","url":"https://omia.org/OMIA001561/9615/"},"species":"NCBITaxon:9615","summary":"Periodic Fever Syndrome. Expected gene HAS2 (ENSCAFG00845008598), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Chinese Shar-Pei","disease_group_id":"VHCASEGROUP:omia-1561","evaluation":{"discovery_mask_disease_ids":["OMIA:001561-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:41bee012e240cfe32a927323de09c37cf9850be8a227256dd155b09d896bd143","OMIA:001561-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008381","id":"case-omia-001561-mtbp","label":"Periodic Fever Syndrome","phenotypes":{"excluded":[],"present":["HP:0000083","HP:0000100","HP:0001072","HP:0001369","HP:0001917","HP:0001954","HP:0011034","HP:0032323"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:001561-9615","url":"https://omia.org/OMIA001561/9615/"},"species":"NCBITaxon:9615","summary":"Periodic Fever Syndrome. Expected gene MTBP (ENSCAFG00845008381), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Golden Retriever","disease_group_id":"VHCASEGROUP:omia-1572","evaluation":{"discovery_mask_disease_ids":["OMIA:001572-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:845c7bea90950eb077f7d48e8869c54818272a7fde291b8146a92c9deb15581e","OMIA:001572-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845030591","id":"case-omia-001572-slc4a3","label":"Retinal atrophy, progressive, SLC4A3-related","phenotypes":{"excluded":[],"present":["HP:0000510","HP:0000546","HP:0000572","HP:0001105"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:001572-9615","url":"https://omia.org/OMIA001572/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy, progressive, SLC4A3-related. Expected gene SLC4A3 (ENSCAFG00845030591), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Curly Coated Retriever","disease_group_id":"VHCASEGROUP:omia-1577","evaluation":{"discovery_mask_disease_ids":["OMIA:001577-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:ca6da9201064c2b02ecdb2a55d5bbc3f846a82ca6fdfcb574a9908882c5ba210","OMIA:001577-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845013603","id":"case-omia-001577-agl","label":"Glycogen storage disease IIIa","phenotypes":{"excluded":[],"present":["HP:0001324","HP:0001394","HP:0001395","HP:0003546","HP:0003756"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2007,"reference":{"label":"OMIA:001577-9615","url":"https://omia.org/OMIA001577/9615/"},"species":"NCBITaxon:9615","summary":"Glycogen storage disease IIIa. Expected gene AGL (ENSCAFG00845013603), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Golden Retriever, Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-1588","evaluation":{"discovery_mask_disease_ids":["OMIA:001588-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:9b0040357f9775fe19b455fe98723e50f3e212bd98035f4bbbfc6220261c23dc","OMIA:001588-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008874","id":"case-omia-001588-pnpla1","label":"Ichthyosis, PNPLA1-related","phenotypes":{"excluded":[],"present":["HP:0000962","HP:0007431","HP:0025080","HP:0025809","HP:0040189"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2012,"reference":{"label":"OMIA:001588-9615","url":"https://omia.org/OMIA001588/9615/"},"species":"NCBITaxon:9615","summary":"Ichthyosis, PNPLA1-related. Expected gene PNPLA1 (ENSCAFG00845008874), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Lagotto Romagnolo","disease_group_id":"VHCASEGROUP:omia-1596","evaluation":{"discovery_mask_disease_ids":["OMIA:001596-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:eab62260abda3d266da3b5880f1b3334fe14f017802838922789b09d684699a5","OMIA:001596-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845007610","id":"case-omia-001596-lgi2","label":"Epilepsy, benign familial juvenile, LGI2-related","phenotypes":{"excluded":[],"present":["HP:0002384","HP:0007018","HP:0007359"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:001596-9615","url":"https://omia.org/OMIA001596/9615/"},"species":"NCBITaxon:9615","summary":"Epilepsy, benign familial juvenile, LGI2-related. Expected gene LGI2 (ENSCAFG00845007610), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Great Dane","disease_group_id":"VHCASEGROUP:omia-1660","evaluation":{"discovery_mask_disease_ids":["OMIA:001660-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:11e63ebe680b3a478533f405409f67c47e2e4d77b9933adb8defe8ed9331f409","OMIA:001660-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845023270","id":"case-omia-001660-bin1","label":"Centronuclear myopathy 2, BIN1-related","phenotypes":{"excluded":[],"present":["HP:0001324","HP:0003202","HP:0003700"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2013,"reference":{"label":"OMIA:001660-9615","url":"https://omia.org/OMIA001660/9615/"},"species":"NCBITaxon:9615","summary":"Centronuclear myopathy 2, BIN1-related. Expected gene BIN1 (ENSCAFG00845023270), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"American Staffordshire Terrier","disease_group_id":"VHCASEGROUP:omia-1674","evaluation":{"discovery_mask_disease_ids":["OMIA:001674-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:6f3019e6fbb59acbba037f3635d130206721bca637c1b2e5bea4926ad9b4f6ab","OMIA:001674-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845001610","id":"case-omia-001674-pde6b","label":"Retinal atrophy - Cone-rod dystrophy 1","phenotypes":{"excluded":[],"present":["HP:0000548","HP:0001105","HP:0030637"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2013,"reference":{"label":"OMIA:001674-9615","url":"https://omia.org/OMIA001674/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy - Cone-rod dystrophy 1. Expected gene PDE6B (ENSCAFG00845001610), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"American Pit Bull Terrier","disease_group_id":"VHCASEGROUP:omia-1675","evaluation":{"discovery_mask_disease_ids":["OMIA:001675-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:2a8d58f0b7ab94a6431e61f6ff6e731590f316b98034d3f8bcaf4a5b1eb27290","OMIA:001675-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845021876","id":"case-omia-001675-iqcb1","label":"Retinal atrophy - Cone-rod dystrophy 2","phenotypes":{"excluded":[],"present":["HP:0000546","HP:0000548","HP:0000572","HP:0001105","HP:0030637"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2013,"reference":{"label":"OMIA:001675-9615","url":"https://omia.org/OMIA001675/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy - Cone-rod dystrophy 2. Expected gene IQCB1 (ENSCAFG00845021876), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Australian Cattle Dog X, German Pointer","disease_group_id":"VHCASEGROUP:omia-1677","evaluation":{"discovery_mask_disease_ids":["OMIA:001677-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:ff9ae3e781dcbbd3ef5df177deeb8806bd5ee8e499c4efba75bddc1fbfbc3748","OMIA:001677-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845013821","id":"case-omia-001677-lama3","label":"Epidermolysis bullosa, junctionalis, LAMA3-related","phenotypes":{"excluded":[],"present":["HP:0001030","HP:0002098","HP:0002781","HP:0004334","HP:0004396","HP:0006297","HP:0006536","HP:0008404"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2005,"reference":{"label":"OMIA:001677-9615","url":"https://omia.org/OMIA001677/9615/"},"species":"NCBITaxon:9615","summary":"Epidermolysis bullosa, junctionalis, LAMA3-related. Expected gene LAMA3 (ENSCAFG00845013821), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Finnish Hound","disease_group_id":"VHCASEGROUP:omia-1692","evaluation":{"discovery_mask_disease_ids":["OMIA:001692-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:3316ad88bddbb39f26511ff31d02290e243e82d10aaf4a2a338de3343ea17966","OMIA:001692-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845009244","id":"case-omia-001692-sel1l","label":"Ataxia, cerebellar, progressive early-onset, SEL1L-related","phenotypes":{"excluded":[],"present":["HP:0001251","HP:0001508","HP:0002073"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2012,"reference":{"label":"OMIA:001692-9615","url":"https://omia.org/OMIA001692/9615/"},"species":"NCBITaxon:9615","summary":"Ataxia, cerebellar, progressive early-onset, SEL1L-related. Expected gene SEL1L (ENSCAFG00845009244), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Beagle, Border Collie, Komondor","disease_group_id":"VHCASEGROUP:omia-1786","evaluation":{"discovery_mask_disease_ids":["OMIA:001786-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:4be73fe30ea126a4470f3580ba02bfd2d6046355621de7353346c93a67bce255","OMIA:001786-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845014048","id":"case-omia-001786-cubn","label":"Intestinal cobalamin (vitamin B12) malabsorption, CUBN-related","phenotypes":{"excluded":[],"present":["HP:0001508","HP:0001889","HP:0002024","HP:0003202","HP:0005237","HP:0005511","HP:0011947","HP:0012120","HP:0012595","HP:0032239","HP:0100502"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2013,"reference":{"label":"OMIA:001786-9615","url":"https://omia.org/OMIA001786/9615/"},"species":"NCBITaxon:9615","summary":"Intestinal cobalamin (vitamin B12) malabsorption, CUBN-related. Expected gene CUBN (ENSCAFG00845014048), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Giant Schnauzer, Poodle, Standard","disease_group_id":"VHCASEGROUP:omia-1787","evaluation":{"discovery_mask_disease_ids":["OMIA:001787-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b0b15c354eba6c925f88a6ee2afcb8c92114c74802b2bf630bbef7ff748a750d","OMIA:001787-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845018506","id":"case-omia-001787-kitlg","label":"Squamous cell carcinoma of the digit","phenotypes":{"excluded":[],"present":["HP:0002860","HP:0002861","HP:0008070"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2013,"reference":{"label":"OMIA:001787-9615","url":"https://omia.org/OMIA001787/9615/"},"species":"NCBITaxon:9615","summary":"Squamous cell carcinoma of the digit. Expected gene KITLG (ENSCAFG00845018506), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Great Dane, Leonberger, Rottweiler","disease_group_id":"VHCASEGROUP:omia-1788","evaluation":{"discovery_mask_disease_ids":["OMIA:001788-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:0d0a4340a39b50e0ed4fb60d7bc34967beccfa1ae3126f36d0dae9e904d7ca27","OMIA:001788-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845019563","id":"case-omia-001788-napepld","label":"Leukoencephalomyelopathy, NAPEPLD-related","phenotypes":{"excluded":[],"present":["HP:0001285","HP:0001288","HP:0002073"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2018,"reference":{"label":"OMIA:001788-9615","url":"https://omia.org/OMIA001788/9615/"},"species":"NCBITaxon:9615","summary":"Leukoencephalomyelopathy, NAPEPLD-related. Expected gene NAPEPLD (ENSCAFG00845019563), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Cavalier King Charles Spaniel, Dachshund, English Cocker Spaniel","disease_group_id":"VHCASEGROUP:omia-1819","evaluation":{"discovery_mask_disease_ids":["OMIA:001819-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:7532cba1e3ecbecbee40027fdad91212c453a232a2cc1f502093d688a517426d","OMIA:001819-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845004591","id":"case-omia-001819-mocos","label":"Xanthinuria, type II","phenotypes":{"excluded":[],"present":["HP:0000083","HP:0000796","HP:0000804","HP:0003774"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2021,"reference":{"label":"OMIA:001819-9615","url":"https://omia.org/OMIA001819/9615/"},"species":"NCBITaxon:9615","summary":"Xanthinuria, type II. Expected gene MOCOS (ENSCAFG00845004591), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Jack Russell Terrier, Parson Russell Terrier","disease_group_id":"VHCASEGROUP:omia-1820","evaluation":{"discovery_mask_disease_ids":["OMIA:001820-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:2fd45ad527e0108d5ae19290272423ebdcf6704e4e12b07b18d134c9f5886bf1","OMIA:001820-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845025353","id":"case-omia-001820-capn1","label":"Ataxia, spinocerebellar, CAPN1-related","phenotypes":{"excluded":[],"present":["HP:0001258","HP:0001288","HP:0002078","HP:0002098","HP:0002197","HP:0002311"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2013,"reference":{"label":"OMIA:001820-9615","url":"https://omia.org/OMIA001820/9615/"},"species":"NCBITaxon:9615","summary":"Ataxia, spinocerebellar, CAPN1-related. Expected gene CAPN1 (ENSCAFG00845025353), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Chesapeake Bay Retriever, Golden Retriever","disease_group_id":"VHCASEGROUP:omia-1864","evaluation":{"discovery_mask_disease_ids":["OMIA:001864-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:24ea5962eb7e9ccc9cccf8635f6715c41c848e4aa3c8be8281adcb977a8f8e60","OMIA:001864-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845018597","id":"case-omia-001864-pkp1","label":"Ectodermal dysplasia/skin fragility syndrome, PKP1-related","phenotypes":{"excluded":[],"present":["HP:0000968","HP:0001030","HP:0001596","HP:0032156"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2012,"reference":{"label":"OMIA:001864-9615","url":"https://omia.org/OMIA001864/9615/"},"species":"NCBITaxon:9615","summary":"Ectodermal dysplasia/skin fragility syndrome, PKP1-related. Expected gene PKP1 (ENSCAFG00845018597), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Beagle, Norwegian Elkhound","disease_group_id":"VHCASEGROUP:omia-1870","evaluation":{"discovery_mask_disease_ids":["OMIA:001870-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:33297c075da2553fb07eb3b5e7108c917bb31b7f5878541a7fa07a86df16f024","OMIA:001870-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845006935","id":"case-omia-001870-adamts10","label":"Glaucoma, primary open angle, ADAMTS10-related","phenotypes":{"excluded":[],"present":["HP:0000572","HP:0000667","HP:0001083","HP:0001138","HP:0007906","HP:0008007","HP:0012108"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:001870-9615","url":"https://omia.org/OMIA001870/9615/"},"species":"NCBITaxon:9615","summary":"Glaucoma, primary open angle, ADAMTS10-related. Expected gene ADAMTS10 (ENSCAFG00845006935), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Basenji","disease_group_id":"VHCASEGROUP:omia-1876","evaluation":{"discovery_mask_disease_ids":["OMIA:001876-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:d6d5e1eea7df855924061e36c2e03f884bdc34ef87b2810c3e23ca7822ee2a9b","OMIA:001876-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845021999","id":"case-omia-001876-sag","label":"Retinal atrophy, progressive, SAG-related","phenotypes":{"excluded":[],"present":["HP:0000510","HP:0000546","HP:0001105","HP:0030329"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2013,"reference":{"label":"OMIA:001876-9615","url":"https://omia.org/OMIA001876/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy, progressive, SAG-related. Expected gene SAG (ENSCAFG00845021999), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Norwich Terrier","disease_group_id":"VHCASEGROUP:omia-1893","evaluation":{"discovery_mask_disease_ids":["OMIA:001893-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:80e8220f08f82e7f6b6aaf4be7267ac39c5c9f464cf5715a5870e4e8f96db9b8","OMIA:001893-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845012236","id":"case-omia-001893-adamts3","label":"Upper airway syndrome","phenotypes":{"excluded":[],"present":["HP:0001600","HP:0002098","HP:0002781","HP:0006536"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2019,"reference":{"label":"OMIA:001893-9615","url":"https://omia.org/OMIA001893/9615/"},"species":"NCBITaxon:9615","summary":"Upper airway syndrome. Expected gene ADAMTS3 (ENSCAFG00845012236), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Gordon Setter, Mixed Breed, Old English Sheepdog","disease_group_id":"VHCASEGROUP:omia-1913","evaluation":{"discovery_mask_disease_ids":["OMIA:001913-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:697eedc83451500adf863b10940ac7499cd9cc1b803899ee4bd2123d3308da06","OMIA:001913-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845010718","id":"case-omia-001913-rab24","label":"Ataxia, cerebellar, juvenile to adolescent, RAB24-related","phenotypes":{"excluded":[],"present":["HP:0001251","HP:0001272","HP:0001288","HP:0002073","HP:0002078","HP:0002079","HP:0002080","HP:0002283","HP:0002529","HP:0012444","HP:0040078","HP:6000717"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2014,"reference":{"label":"OMIA:001913-9615","url":"https://omia.org/OMIA001913/9615/"},"species":"NCBITaxon:9615","summary":"Ataxia, cerebellar, juvenile to adolescent, RAB24-related. Expected gene RAB24 (ENSCAFG00845010718), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Leonberger, Saint Bernard","disease_group_id":"VHCASEGROUP:omia-1917","evaluation":{"discovery_mask_disease_ids":["OMIA:001917-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:84e20d173b85ee33020b3524e5829aa50bf7780eedf1ad84aacc5951994e7398","OMIA:001917-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845025529","id":"case-omia-001917-arhgef10","label":"Polyneuropathy, ARHGEF10-related","phenotypes":{"excluded":[],"present":["HP:0001284","HP:0001288","HP:0001605","HP:0003202","HP:0003324","HP:0003376","HP:0003477","HP:0003546","HP:0005348","HP:0040078"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2014,"reference":{"label":"OMIA:001917-9615","url":"https://omia.org/OMIA001917/9615/"},"species":"NCBITaxon:9615","summary":"Polyneuropathy, ARHGEF10-related. Expected gene ARHGEF10 (ENSCAFG00845025529), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Swedish Vallhund","disease_group_id":"VHCASEGROUP:omia-1932","evaluation":{"discovery_mask_disease_ids":["OMIA:001932-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b0d378d60404b78f4a4e0a380f2769baa752187405db70ff2eee66edfd88fa6c","OMIA:001932-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845010081","id":"case-omia-001932-mertk","label":"Retinal atrophy, progressive, MERTK-related","phenotypes":{"excluded":[],"present":["HP:0000529","HP:0000572","HP:0000662","HP:0001105"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2017,"reference":{"label":"OMIA:001932-9615","url":"https://omia.org/OMIA001932/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy, progressive, MERTK-related. Expected gene MERTK (ENSCAFG00845010081), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Miniature Schnauzer","disease_group_id":"VHCASEGROUP:omia-1944","evaluation":{"discovery_mask_disease_ids":["OMIA:001944-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:41a14c62552d6cc07cbee5e33f1af52866b3972ab7fbc19570545a52d4436901","OMIA:001944-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845027731","id":"case-omia-001944-hes7","label":"Spondylocostal dysostosis, autosomal recessive","phenotypes":{"excluded":[],"present":["HP:0000772","HP:0001537","HP:0410005"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:001944-9615","url":"https://omia.org/OMIA001944/9615/"},"species":"NCBITaxon:9615","summary":"Spondylocostal dysostosis, autosomal recessive. Expected gene HES7 (ENSCAFG00845027731), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Eurasier","disease_group_id":"VHCASEGROUP:omia-1947","evaluation":{"discovery_mask_disease_ids":["OMIA:001947-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:7db2d936bed2918ad4d1659541951a327a5438d5239d82d681dd2b93f73d13a2","OMIA:001947-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845002345","id":"case-omia-001947-vldlr","label":"Cerebellar hypoplasia, VLDLR-associated","phenotypes":{"excluded":[],"present":["HP:0000238","HP:0000639","HP:0002438","HP:0002527"]},"provenance":{"mode_1_is_circular":false,"phenotype_source":"omia-structured"},"publication_year":2015,"reference":{"label":"OMIA:001947-9615","url":"https://omia.org/OMIA001947/9615/"},"species":"NCBITaxon:9615","summary":"Cerebellar hypoplasia, VLDLR-associated. Expected gene VLDLR (ENSCAFG00845002345), corroborated by both crosswalk providers. Phenotypes are OMIA structured annotations."} +{"breed":"Lagotto Romagnolo","disease_group_id":"VHCASEGROUP:omia-1954","evaluation":{"discovery_mask_disease_ids":["OMIA:001954-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:678f870e36428b4060b0d68544b4143db00cb52965a8637b19b71f00e67f65b0","OMIA:001954-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845026379","id":"case-omia-001954-atg4d","label":"Neurodegenerative vacuolar storage disease","phenotypes":{"excluded":[],"present":["HP:0000708","HP:0001251","HP:0002073","HP:0006844","HP:0033725"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:001954-9615","url":"https://omia.org/OMIA001954/9615/"},"species":"NCBITaxon:9615","summary":"Neurodegenerative vacuolar storage disease. Expected gene ATG4D (ENSCAFG00845026379), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Basset Bleu de Gascogne, Chihuahua, Chinese Crested","disease_group_id":"VHCASEGROUP:omia-1962","evaluation":{"discovery_mask_disease_ids":["OMIA:001962-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:e3524a568a9006c3c523a3bf03763871cbc8c9c79c0393cafbd8c4affd4d3560","OMIA:001962-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845026578","id":"case-omia-001962-mfsd8","label":"Neuronal ceroid lipofuscinosis, 7","phenotypes":{"excluded":[],"present":["HP:0000546","HP:0001272","HP:0002073","HP:0002344","HP:0012444","HP:0100543"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:001962-9615","url":"https://omia.org/OMIA001962/9615/"},"species":"NCBITaxon:9615","summary":"Neuronal ceroid lipofuscinosis, 7. Expected gene MFSD8 (ENSCAFG00845026578), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Landseer","disease_group_id":"VHCASEGROUP:omia-1967","evaluation":{"discovery_mask_disease_ids":["OMIA:001967-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:8fdba58899a9f94cb476f2e9e855e5085fd5f20c69408785a820cc1b171577cb","OMIA:001967-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845024031","id":"case-omia-001967-col6a1","label":"Muscular dystrophy, Ullrich type, COL6A1-related","phenotypes":{"excluded":[],"present":["HP:0001324","HP:0003323","HP:0003560"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:001967-9615","url":"https://omia.org/OMIA001967/9615/"},"species":"NCBITaxon:9615","summary":"Muscular dystrophy, Ullrich type, COL6A1-related. Expected gene COL6A1 (ENSCAFG00845024031), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Alaskan Husky, Black Russian Terrier, Rottweiler","disease_group_id":"VHCASEGROUP:omia-1970","evaluation":{"discovery_mask_disease_ids":["OMIA:001970-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:e49a08cc91a6d46ab8f619a7689f3c9a6f3dea20af86c6d1cde000c58edc3194","OMIA:001970-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008763","id":"case-omia-001970-rab3gap1","label":"Polyneuropathy, RAB3GAP1-related","phenotypes":{"excluded":[],"present":["HP:0001251","HP:0001288","HP:0001605","HP:0002080","HP:0002098","HP:0002344","HP:0002503","HP:0003324","HP:0003477","HP:0003690","HP:0005348","HP:0009830","HP:0010871","HP:0040078"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:001970-9615","url":"https://omia.org/OMIA001970/9615/"},"species":"NCBITaxon:9615","summary":"Polyneuropathy, RAB3GAP1-related. Expected gene RAB3GAP1 (ENSCAFG00845008763), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Great Dane","disease_group_id":"VHCASEGROUP:omia-1973","evaluation":{"discovery_mask_disease_ids":["OMIA:001973-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:9479ade45d582be5f638ed8b97c21eabeb2d91ec96883e8b71a21e1cce789402","OMIA:001973-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845029005","id":"case-omia-001973-slc27a4","label":"Ichthyosis, SLC27A4-related","phenotypes":{"excluded":[],"present":["HP:0007431","HP:0025080","HP:0034703","HP:0040189"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:001973-9615","url":"https://omia.org/OMIA001973/9615/"},"species":"NCBITaxon:9615","summary":"Ichthyosis, SLC27A4-related. Expected gene SLC27A4 (ENSCAFG00845029005), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Basset Fauve de Bretagne, Basset Hound, Chinese Shar-Pei","disease_group_id":"VHCASEGROUP:omia-1976","evaluation":{"discovery_mask_disease_ids":["OMIA:001976-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:99ac749c14a8b969207a8b7f4ee4271340879850ba5166dc60cc28cbfb3904f2","OMIA:001976-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845001303","id":"case-omia-001976-adamts17","label":"Glaucoma, primary open angle, ADAMTS17-related","phenotypes":{"excluded":[],"present":["HP:0001132","HP:0004322","HP:0007906","HP:0012019","HP:0012108"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:001976-9615","url":"https://omia.org/OMIA001976/9615/"},"species":"NCBITaxon:9615","summary":"Glaucoma, primary open angle, ADAMTS17-related. Expected gene ADAMTS17 (ENSCAFG00845001303), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Shetland Sheepdog","disease_group_id":"VHCASEGROUP:omia-1977","evaluation":{"discovery_mask_disease_ids":["OMIA:001977-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:326aca4fb6706892adba62c176c01183ff7d82a7d7998af829bff3fbc8493b9b","OMIA:001977-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845009629","id":"case-omia-001977-cnga1","label":"Retinal atrophy, progressive, CNGA1-related","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0000510","HP:0001105"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:001977-9615","url":"https://omia.org/OMIA001977/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy, progressive, CNGA1-related. Expected gene CNGA1 (ENSCAFG00845009629), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"American Bulldog, American Bully","disease_group_id":"VHCASEGROUP:omia-1980","evaluation":{"discovery_mask_disease_ids":["OMIA:001980-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:bae94f023a91e1e19f08b922138ede2f74c3078bd463780d36fbccf1006c7425","OMIA:001980-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845002106","id":"case-omia-001980-nipal4","label":"Ichthyosis, NIPAL4-related","phenotypes":{"excluded":[],"present":["HP:0007431","HP:0025080","HP:0025809"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2017,"reference":{"label":"OMIA:001980-9615","url":"https://omia.org/OMIA001980/9615/"},"species":"NCBITaxon:9615","summary":"Ichthyosis, NIPAL4-related. Expected gene NIPAL4 (ENSCAFG00845002106), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Golden Retriever","disease_group_id":"VHCASEGROUP:omia-1984","evaluation":{"discovery_mask_disease_ids":["OMIA:001984-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:38d063720eef7de12a015419e5991b1df11f61bc6a74dac2fc4d6995dee1db1d","OMIA:001984-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845012241","id":"case-omia-001984-ttc8","label":"Retinal atrophy, progressive, TTC8-related","phenotypes":{"excluded":[],"present":["HP:0000077","HP:0000529","HP:0000546","HP:0000572","HP:0000648","HP:0001105"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2014,"reference":{"label":"OMIA:001984-9615","url":"https://omia.org/OMIA001984/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy, progressive, TTC8-related. Expected gene TTC8 (ENSCAFG00845012241), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Bedlington Terrier","disease_group_id":"VHCASEGROUP:omia-1988","evaluation":{"discovery_mask_disease_ids":["OMIA:001988-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:43473be5f4ef7471908cbf45e62a6fdf676cbe73c9b7e534995cc089b08b52cc","OMIA:001988-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845016604","id":"case-omia-001988-commd1","label":"Copper toxicosis, COMMD1-related","phenotypes":{"excluded":[],"present":["HP:0000708","HP:0000751","HP:0001409","HP:0001410","HP:0001824","HP:0001931","HP:0002480","HP:0011967","HP:0200123"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2005,"reference":{"label":"OMIA:001988-9615","url":"https://omia.org/OMIA001988/9615/"},"species":"NCBITaxon:9615","summary":"Copper toxicosis, COMMD1-related. Expected gene COMMD1 (ENSCAFG00845016604), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Doberman Pinscher, Golden Retriever, Maltese","disease_group_id":"VHCASEGROUP:omia-2020","evaluation":{"discovery_mask_disease_ids":["OMIA:002020-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b6a96f63f3c1817f3764cd12d94e663152d984ed75ea8258467f5f880119d9dc","OMIA:002020-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845002222","id":"case-omia-002020-plg","label":"Ligneous membranitis","phenotypes":{"excluded":[],"present":["HP:0001482","HP:0001824","HP:0031417","HP:5210259","HP:5210260"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:002020-9615","url":"https://omia.org/OMIA002020/9615/"},"species":"NCBITaxon:9615","summary":"Ligneous membranitis. Expected gene PLG (ENSCAFG00845002222), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Lundehund, New Zealand Heading Dog","disease_group_id":"VHCASEGROUP:omia-2031","evaluation":{"discovery_mask_disease_ids":["OMIA:002031-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:a2f0e2e15891753303e03988d6676c4be26c6863262027a06e5e52abbb7ff665","OMIA:002031-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845023995","id":"case-omia-002031-p3h2","label":"Lundehund syndrome","phenotypes":{"excluded":[],"present":["HP:0001824","HP:0002243","HP:0002582","HP:0002593"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2016,"reference":{"label":"OMIA:002031-9615","url":"https://omia.org/OMIA002031/9615/"},"species":"NCBITaxon:9615","summary":"Lundehund syndrome. Expected gene P3H2 (ENSCAFG00845023995), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Puli","disease_group_id":"VHCASEGROUP:omia-2045","evaluation":{"discovery_mask_disease_ids":["OMIA:002045-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:482f63dc5628b8efa00c84ac53ec7bf6be66adc12050986bc4ada596e8e42582","OMIA:002045-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845025503","id":"case-omia-002045-bbs4","label":"Bardet-Biedl syndrome 4","phenotypes":{"excluded":[],"present":["HP:0000510","HP:0000572","HP:0001105"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2017,"reference":{"label":"OMIA:002045-9615","url":"https://omia.org/OMIA002045/9615/"},"species":"NCBITaxon:9615","summary":"Bardet-Biedl syndrome 4. Expected gene BBS4 (ENSCAFG00845025503), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Nova Scotia Duck Tolling Retriever","disease_group_id":"VHCASEGROUP:omia-2055","evaluation":{"discovery_mask_disease_ids":["OMIA:002055-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:e13637fe1faac591d9a8b80d37f23c86d6b9e6c96f36bcc71e324cc63f5a034f","OMIA:002055-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845024092","id":"case-omia-002055-rb1cc1","label":"Degenerative encephalopathy, RB1CC1-related","phenotypes":{"excluded":[],"present":["HP:0000722","HP:0001288","HP:0004305","HP:0100543","HP:5200291"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2025,"reference":{"label":"OMIA:002055-9615","url":"https://omia.org/OMIA002055/9615/"},"species":"NCBITaxon:9615","summary":"Degenerative encephalopathy, RB1CC1-related. Expected gene RB1CC1 (ENSCAFG00845024092), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-2071","evaluation":{"discovery_mask_disease_ids":["OMIA:002071-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:3c3f1c53a61251f9d31c2a50461e79b70eb80e8c70efb84cb3a01468ae7bd213","OMIA:002071-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845023942","id":"case-omia-002071-loc489707","label":"Macular corneal dystrophy","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0001131","HP:0007856","HP:0007957","HP:0011496"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2016,"reference":{"label":"OMIA:002071-9615","url":"https://omia.org/OMIA002071/9615/"},"species":"NCBITaxon:9615","summary":"Macular corneal dystrophy. Expected gene LOC489707 (ENSCAFG00845023942), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Belgian Shepherd Dog, Belgian Shepherd Dog, Malinois, Bouvier des Ardennes","disease_group_id":"VHCASEGROUP:omia-2089","evaluation":{"discovery_mask_disease_ids":["OMIA:002089-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:1fcedd3a3fed6562522cd6929d06d0580b007530ed73911a6bb3a8c09778e9b4","OMIA:002089-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845030876","id":"case-omia-002089-kcnj10","label":"Ataxia, cerebellar, KCNJ10-related","phenotypes":{"excluded":[],"present":["HP:0001251","HP:0001288","HP:0002098","HP:0002197","HP:0002503","HP:0002540"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2014,"reference":{"label":"OMIA:002089-9615","url":"https://omia.org/OMIA002089/9615/"},"species":"NCBITaxon:9615","summary":"Ataxia, cerebellar, KCNJ10-related. Expected gene KCNJ10 (ENSCAFG00845030876), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Beagle","disease_group_id":"VHCASEGROUP:omia-2092","evaluation":{"discovery_mask_disease_ids":["OMIA:002092-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:ba38db05496ba05c9ba0489aa15b0bc4cb1426a50c834eb6e6b3828bc7bd501d","OMIA:002092-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845012050","id":"case-omia-002092-sptbn2","label":"Ataxia, spinocerebellar, SPTBN2-related","phenotypes":{"excluded":[],"present":["HP:0001251","HP:0001583","HP:0002540"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2012,"reference":{"label":"OMIA:002092-9615","url":"https://omia.org/OMIA002092/9615/"},"species":"NCBITaxon:9615","summary":"Ataxia, spinocerebellar, SPTBN2-related. Expected gene SPTBN2 (ENSCAFG00845012050), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Italian Spinone","disease_group_id":"VHCASEGROUP:omia-2097","evaluation":{"discovery_mask_disease_ids":["OMIA:002097-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:8020920cb278b746471746bda11d6b35ff9271658bfc962fe08067bb4ee86c3c","OMIA:002097-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845011583","id":"case-omia-002097-itpr1","label":"Ataxia, spinocerebellar, ITPR1-related","phenotypes":{"excluded":[],"present":["HP:0002172","HP:0002346","HP:0012043"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:002097-9615","url":"https://omia.org/OMIA002097/9615/"},"species":"NCBITaxon:9615","summary":"Ataxia, spinocerebellar, ITPR1-related. Expected gene ITPR1 (ENSCAFG00845011583), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Papillon","disease_group_id":"VHCASEGROUP:omia-2105","evaluation":{"discovery_mask_disease_ids":["OMIA:002105-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:273901eb1f7b9f89c6fb45a6467a1af13389f5d000a0d4f99b593e2a68f5c173","OMIA:002105-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845024672","id":"case-omia-002105-pla2g6","label":"Neuroaxonal dystrophy, PLA2G6-related","phenotypes":{"excluded":[],"present":["HP:0001251","HP:0001272","HP:0002070","HP:0002080","HP:0002346","HP:0011951","HP:0040078"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2017,"reference":{"label":"OMIA:002105-9615","url":"https://omia.org/OMIA002105/9615/"},"species":"NCBITaxon:9615","summary":"Neuroaxonal dystrophy, PLA2G6-related. Expected gene PLA2G6 (ENSCAFG00845024672), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Beagle, Chow Chow, Lagotto Romagnolo","disease_group_id":"VHCASEGROUP:omia-2112","evaluation":{"discovery_mask_disease_ids":["OMIA:002112-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:3e115a2b5b379cbd251d83bb3e7a039275961ac238d97402c1c9ff0d9ec4da25","OMIA:002112-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845017038","id":"case-omia-002112-col1a2","label":"Osteogenesis imperfecta, COL1A2-related","phenotypes":{"excluded":[],"present":["HP:0000938","HP:0002659","HP:0002757"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2001,"reference":{"label":"OMIA:002112-9615","url":"https://omia.org/OMIA002112/9615/"},"species":"NCBITaxon:9615","summary":"Osteogenesis imperfecta, COL1A2-related. Expected gene COL1A2 (ENSCAFG00845017038), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Alaskan Malamute, Greyhound","disease_group_id":"VHCASEGROUP:omia-2120","evaluation":{"discovery_mask_disease_ids":["OMIA:002120-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:8a49e506ee63574cbefd5032e382f5d31f0edec27b1f6daaa9b5b4787aa49d51","OMIA:002120-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845009769","id":"case-omia-002120-ndrg1","label":"Polyneuropathy, NDRG1-related","phenotypes":{"excluded":[],"present":["HP:0001288","HP:0002073","HP:0002167","HP:0002366","HP:0002540","HP:0003202","HP:0003376","HP:0003387","HP:0003546","HP:0003693","HP:0005348","HP:0007133","HP:0007141","HP:0012473","HP:0040078"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2010,"reference":{"label":"OMIA:002120-9615","url":"https://omia.org/OMIA002120/9615/"},"species":"NCBITaxon:9615","summary":"Polyneuropathy, NDRG1-related. Expected gene NDRG1 (ENSCAFG00845009769), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Boston Terrier, Lagotto Romagnolo","disease_group_id":"VHCASEGROUP:omia-2122","evaluation":{"discovery_mask_disease_ids":["OMIA:002122-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:30fa613188b5314a828780044f719a864b180403241ef7803780767761293100","OMIA:002122-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845002587","id":"case-omia-002122-sgcd","label":"Muscular dystrophy, limb-girdle, type R6 (LGMDR6)","phenotypes":{"excluded":[],"present":["HP:0001324","HP:0002540","HP:0003323","HP:0003560","HP:0006785"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2017,"reference":{"label":"OMIA:002122-9615","url":"https://omia.org/OMIA002122/9615/"},"species":"NCBITaxon:9615","summary":"Muscular dystrophy, limb-girdle, type R6 (LGMDR6). Expected gene SGCD (ENSCAFG00845002587), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Golden Retriever","disease_group_id":"VHCASEGROUP:omia-2126","evaluation":{"discovery_mask_disease_ids":["OMIA:002126-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:005b6c1d0f52e8f959a20c1f8a771f64bc9c9b61392762d19b929d9907c8c994","OMIA:002126-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845012504","id":"case-omia-002126-col1a1","label":"Osteogenesis imperfecta, type III, COL1A1-related","phenotypes":{"excluded":[],"present":["HP:0000703","HP:0000938","HP:0002757","HP:0004322"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2000,"reference":{"label":"OMIA:002126-9615","url":"https://omia.org/OMIA002126/9615/"},"species":"NCBITaxon:9615","summary":"Osteogenesis imperfecta, type III, COL1A1-related. Expected gene COL1A1 (ENSCAFG00845012504), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Bull Terrier, Miniature Bull Terrier","disease_group_id":"VHCASEGROUP:omia-2146","evaluation":{"discovery_mask_disease_ids":["OMIA:002146-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:67607cf1201becaaead2e053b27b8b65b9f725ffa3be078b8192aae05028ddf0","OMIA:002146-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845015885","id":"case-omia-002146-mkln1","label":"Acrodermatitis, lethal, MKLN1-related","phenotypes":{"excluded":[],"present":["HP:0001047","HP:0001508","HP:0001510","HP:0002721","HP:0011967","HP:0040009"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2018,"reference":{"label":"OMIA:002146-9615","url":"https://omia.org/OMIA002146/9615/"},"species":"NCBITaxon:9615","summary":"Acrodermatitis, lethal, MKLN1-related. Expected gene MKLN1 (ENSCAFG00845015885), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Rottweiler","disease_group_id":"VHCASEGROUP:omia-2152","evaluation":{"discovery_mask_disease_ids":["OMIA:002152-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:dc3254a9775b9b0b33c7f352450fa7ce5f8bc91b5cdd34f2277fb683b018d45b","OMIA:002152-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845000686","id":"case-omia-002152-vps11","label":"Neuroaxonal dystrophy, VPS11-related","phenotypes":{"excluded":[],"present":["HP:0002073","HP:0002080","HP:0002346","HP:0010871","HP:6000717"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2018,"reference":{"label":"OMIA:002152-9615","url":"https://omia.org/OMIA002152/9615/"},"species":"NCBITaxon:9615","summary":"Neuroaxonal dystrophy, VPS11-related. Expected gene VPS11 (ENSCAFG00845000686), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Schnauzer-Beagle Cross","disease_group_id":"VHCASEGROUP:omia-2153","evaluation":{"discovery_mask_disease_ids":["OMIA:002153-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:71ee3dfc78a52c525e0b16004552965f3701ec6ec03f447d1dc02aebe53196d8","OMIA:002153-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845001739","id":"case-omia-002153-mfn2","label":"Neuroaxonal dystrophy, MFN2-related","phenotypes":{"excluded":[],"present":["HP:0001321","HP:0002089","HP:0002878","HP:0007373","HP:0034392"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:002153-9615","url":"https://omia.org/OMIA002153/9615/"},"species":"NCBITaxon:9615","summary":"Neuroaxonal dystrophy, MFN2-related. Expected gene MFN2 (ENSCAFG00845001739), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Beagle, Dachshund, Miniature, German Shepherd Dog","disease_group_id":"VHCASEGROUP:omia-2165","evaluation":{"discovery_mask_disease_ids":["OMIA:002165-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:992f9a0f1c73bee4aaeca430ff7eddfb56ee6f8edd61e25c667b440cf8285ddf","OMIA:002165-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845012744","id":"case-omia-002165-col5a1","label":"classical Ehlers-Danlos syndrome (cEDS), COL5A1-related","phenotypes":{"excluded":[],"present":["HP:0000974","HP:0001030","HP:0001075","HP:0001382"]},"provenance":{"mode_1_is_circular":false,"phenotype_source":"omia-structured"},"publication_year":2019,"reference":{"label":"OMIA:002165-9615","url":"https://omia.org/OMIA002165/9615/"},"species":"NCBITaxon:9615","summary":"classical Ehlers-Danlos syndrome (cEDS), COL5A1-related. Expected gene COL5A1 (ENSCAFG00845012744), corroborated by both crosswalk providers. Phenotypes are OMIA structured annotations."} +{"breed":"Norwich Terrier","disease_group_id":"VHCASEGROUP:omia-2173","evaluation":{"discovery_mask_disease_ids":["OMIA:002173-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:80b917ebd9c70ee415cfd279647136348e631b74597e5e7810be1a80432ead13","OMIA:002173-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845005885","id":"case-omia-002173-inpp5e","label":"Diffuse cystic renal dysplasia and hepatic fibrosis","phenotypes":{"excluded":[],"present":["HP:0000110","HP:0000800","HP:0001395"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2018,"reference":{"label":"OMIA:002173-9615","url":"https://omia.org/OMIA002173/9615/"},"species":"NCBITaxon:9615","summary":"Diffuse cystic renal dysplasia and hepatic fibrosis. Expected gene INPP5E (ENSCAFG00845005885), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Pekingese, Shih Tzu","disease_group_id":"VHCASEGROUP:omia-2174","evaluation":{"discovery_mask_disease_ids":["OMIA:002174-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:2977636bc34d73fe431b3e4456d73458798a18f6b0a1ff033f6eb69ae4209c85","OMIA:002174-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845024501","id":"case-omia-002174-slc5a5","label":"Hypothyroidism, congenital dyshormonogenic, with goiter, SLC5A5-related","phenotypes":{"excluded":[],"present":["HP:0000851","HP:0001510","HP:0001644","HP:0002890","HP:0006731","HP:0100028"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2018,"reference":{"label":"OMIA:002174-9615","url":"https://omia.org/OMIA002174/9615/"},"species":"NCBITaxon:9615","summary":"Hypothyroidism, congenital dyshormonogenic, with goiter, SLC5A5-related. Expected gene SLC5A5 (ENSCAFG00845024501), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-2179","evaluation":{"discovery_mask_disease_ids":["OMIA:002179-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:c04f05dd173fa7ac1005539be26b3ee46d6ecfd81e8019f194869c88a59a2a52","OMIA:002179-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845015579","id":"case-omia-002179-abca4","label":"Stargardt disease 1","phenotypes":{"excluded":[],"present":["HP:0000546","HP:0001105","HP:0030637"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2019,"reference":{"label":"OMIA:002179-9615","url":"https://omia.org/OMIA002179/9615/"},"species":"NCBITaxon:9615","summary":"Stargardt disease 1. Expected gene ABCA4 (ENSCAFG00845015579), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"American Bulldog, American Pit Bull Terrier, American Staffordshire Terrier","disease_group_id":"VHCASEGROUP:omia-2186","evaluation":{"discovery_mask_disease_ids":["OMIA:002186-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:2f083924460eab83e9785e7d8349640e6b6545f7cb927a3ddf4a16cb262b8609","OMIA:002186-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845020074","id":"case-omia-002186-dvl2","label":"Screw tail","phenotypes":{"excluded":[],"present":["HP:0000316","HP:0000457","HP:0001627","HP:0002046","HP:0002176","HP:0002414","HP:0003305","HP:0003316","HP:0003467","HP:0003468","HP:0004322","HP:0008422","HP:0008873","HP:0012368","HP:0410017"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2018,"reference":{"label":"OMIA:002186-9615","url":"https://omia.org/OMIA002186/9615/"},"species":"NCBITaxon:9615","summary":"Screw tail. Expected gene DVL2 (ENSCAFG00845020074), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Welsh Springer Spaniel","disease_group_id":"VHCASEGROUP:omia-2195","evaluation":{"discovery_mask_disease_ids":["OMIA:002195-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:80f3895b753cdaf17f5bf2a3c823c930d8af07cbc19de2a01287bbb1413768b6","OMIA:002195-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845007035","id":"case-omia-002195-pln","label":"Cardiomyopathy, dilated, PLN-related","phenotypes":{"excluded":[],"present":["HP:0001644","HP:0001699","HP:0004308","HP:0006673","HP:4000141"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2019,"reference":{"label":"OMIA:002195-9615","url":"https://omia.org/OMIA002195/9615/"},"species":"NCBITaxon:9615","summary":"Cardiomyopathy, dilated, PLN-related. Expected gene PLN (ENSCAFG00845007035), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Miniature Bull Terrier","disease_group_id":"VHCASEGROUP:omia-2222","evaluation":{"discovery_mask_disease_ids":["OMIA:002222-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:d4e6c43524d1bccc0aa1b2724a2292be3fa9220fdf6395ec43fe6bc00dab25b9","OMIA:002222-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008207","id":"case-omia-002222-rapgef6","label":"Laryngeal paralysis, RAPGEF6-related","phenotypes":{"excluded":[],"present":["HP:0001605","HP:0002098","HP:0006536"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2019,"reference":{"label":"OMIA:002222-9615","url":"https://omia.org/OMIA002222/9615/"},"species":"NCBITaxon:9615","summary":"Laryngeal paralysis, RAPGEF6-related. Expected gene RAPGEF6 (ENSCAFG00845008207), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Norwegian Buhund","disease_group_id":"VHCASEGROUP:omia-2240","evaluation":{"discovery_mask_disease_ids":["OMIA:002240-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:32263bc35627dadf03f138f569ed2d7cb9d0cb3811ef6e79f26628f0e19d54db","OMIA:002240-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845009227","id":"case-omia-002240-kcnip4","label":"Ataxia, cerebellar, KCNIP4-related","phenotypes":{"excluded":[],"present":["HP:0001251","HP:0002073","HP:0002078"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2020,"reference":{"label":"OMIA:002240-9615","url":"https://omia.org/OMIA002240/9615/"},"species":"NCBITaxon:9615","summary":"Ataxia, cerebellar, KCNIP4-related. Expected gene KCNIP4 (ENSCAFG00845009227), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Poodle, Miniature","disease_group_id":"VHCASEGROUP:omia-2243","evaluation":{"discovery_mask_disease_ids":["OMIA:002243-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:80339641c06108f15f225ff6a78aa4b92bddcd97398ff1dad5c44b35b0f5a2d9","OMIA:002243-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845017273","id":"case-omia-002243-dsp","label":"Ichthyosis, DSP-related","phenotypes":{"excluded":[],"present":["HP:0000668","HP:0000704","HP:0004528","HP:0025080","HP:0030804"]},"provenance":{"mode_1_is_circular":false,"phenotype_source":"omia-structured"},"publication_year":2024,"reference":{"label":"OMIA:002243-9615","url":"https://omia.org/OMIA002243/9615/"},"species":"NCBITaxon:9615","summary":"Ichthyosis, DSP-related. Expected gene DSP (ENSCAFG00845017273), corroborated by both crosswalk providers. Phenotypes are OMIA structured annotations."} +{"breed":"Mixed Breed","disease_group_id":"VHCASEGROUP:omia-2254","evaluation":{"discovery_mask_disease_ids":["OMIA:002254-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:d21d24898273db51ed5fd79ae170ed7af251d3c3aadb7765918c5a341c9b3928","OMIA:002254-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845019024","id":"case-omia-002254-nr3c1","label":"Glucocorticoid resistance","phenotypes":{"excluded":[],"present":["HP:0003118","HP:0003270","HP:0025520"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2019,"reference":{"label":"OMIA:002254-9615","url":"https://omia.org/OMIA002254/9615/"},"species":"NCBITaxon:9615","summary":"Glucocorticoid resistance. Expected gene NR3C1 (ENSCAFG00845019024), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"American Staffordshire Terrier, Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-2274","evaluation":{"discovery_mask_disease_ids":["OMIA:002274-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b3f17c7980c6b737645b266c0c0a4dc1b5b393b74b1cd9417f1dbec15c1f9101","OMIA:002274-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845028105","id":"case-omia-002274-col6a3","label":"Muscular dystrophy, Ullrich type, COL6A3-related","phenotypes":{"excluded":[],"present":["HP:0001324","HP:0001382","HP:0002878","HP:0003323","HP:0003560","HP:0034392"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2020,"reference":{"label":"OMIA:002274-9615","url":"https://omia.org/OMIA002274/9615/"},"species":"NCBITaxon:9615","summary":"Muscular dystrophy, Ullrich type, COL6A3-related. Expected gene COL6A3 (ENSCAFG00845028105), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Spanish Water Dog","disease_group_id":"VHCASEGROUP:omia-2282","evaluation":{"discovery_mask_disease_ids":["OMIA:002282-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:c6d3f039db7d59a5eb0778d09edc704972ab605768ced930553fc9f37b315f5c","OMIA:002282-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845001610","id":"case-omia-002282-pde6b","label":"Retinal atrophy, progressive, PDE6B-related","phenotypes":{"excluded":[],"present":["HP:0000510","HP:0000546","HP:0001105"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2020,"reference":{"label":"OMIA:002282-9615","url":"https://omia.org/OMIA002282/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy, progressive, PDE6B-related. Expected gene PDE6B (ENSCAFG00845001610), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Miniature Schnauzer","disease_group_id":"VHCASEGROUP:omia-2284","evaluation":{"discovery_mask_disease_ids":["OMIA:002284-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:bd9c1295883f887a3ea94067db26111698a1939988238bcac0d4aa7e796d26da","OMIA:002284-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845014152","id":"case-omia-002284-sbf2","label":"Polyneuropathy, SBF2-related","phenotypes":{"excluded":[],"present":["HP:0001605","HP:0003560","HP:0007108","HP:0009830","HP:0011951"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2019,"reference":{"label":"OMIA:002284-9615","url":"https://omia.org/OMIA002284/9615/"},"species":"NCBITaxon:9615","summary":"Polyneuropathy, SBF2-related. Expected gene SBF2 (ENSCAFG00845014152), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Lhasa Apso","disease_group_id":"VHCASEGROUP:omia-2289","evaluation":{"discovery_mask_disease_ids":["OMIA:002289-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:cce5b05d8d058604c82be0dab1472c4e217a589c53f58b7b20fffaf36894cb67","OMIA:002289-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845019782","id":"case-omia-002289-impg2","label":"Retinal atrophy, progressive, IMPG2-related","phenotypes":{"excluded":[],"present":["HP:0000662","HP:0001105","HP:0007843","HP:0030329"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2020,"reference":{"label":"OMIA:002289-9615","url":"https://omia.org/OMIA002289/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy, progressive, IMPG2-related. Expected gene IMPG2 (ENSCAFG00845019782), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Dutch Shepherd, Nova Scotia Duck Tolling Retriever","disease_group_id":"VHCASEGROUP:omia-2294","evaluation":{"discovery_mask_disease_ids":["OMIA:002294-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:4400262e51591e976a24a8361eefd42f28e03bd2e59fa4cef74b19c5dc0c7978","OMIA:002294-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845028165","id":"case-omia-002294-slc25a12","label":"Cerebellar degeneration-myositis complex, SLC25A12-related","phenotypes":{"excluded":[],"present":["HP:0001317","HP:0001324","HP:0002346","HP:0002540","HP:0003198","HP:0003202","HP:0003323","HP:0003546","HP:0003700","HP:0009071"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2019,"reference":{"label":"OMIA:002294-9615","url":"https://omia.org/OMIA002294/9615/"},"species":"NCBITaxon:9615","summary":"Cerebellar degeneration-myositis complex, SLC25A12-related. Expected gene SLC25A12 (ENSCAFG00845028165), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Chihuahua","disease_group_id":"VHCASEGROUP:omia-2295","evaluation":{"discovery_mask_disease_ids":["OMIA:002295-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:17be58180621c947b72fa83c5770a72a4949fea325fb708124495a8709de1099","OMIA:002295-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845021162","id":"case-omia-002295-col5a2","label":"classical Ehlers-Danlos syndrome (cEDS), COL5A2-related","phenotypes":{"excluded":[],"present":["HP:0000974","HP:0001030","HP:0001382"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2022,"reference":{"label":"OMIA:002295-9615","url":"https://omia.org/OMIA002295/9615/"},"species":"NCBITaxon:9615","summary":"classical Ehlers-Danlos syndrome (cEDS), COL5A2-related. Expected gene COL5A2 (ENSCAFG00845021162), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Great Dane, Labrador Retriever, Leonberger","disease_group_id":"VHCASEGROUP:omia-2301","evaluation":{"discovery_mask_disease_ids":["OMIA:002301-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:2bca3e88a03914d9d4a8827932b5b4091b7b3723bc307d6787488698835d48b6","OMIA:002301-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008178","id":"case-omia-002301-cntnap1","label":"Laryngeal paralysis and polyneuropathy, CNTNAP1-related","phenotypes":{"excluded":[],"present":["HP:0001288","HP:0001605","HP:0002015","HP:0002094","HP:0002366","HP:0003202","HP:0003376","HP:0003546","HP:0040078"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2020,"reference":{"label":"OMIA:002301-9615","url":"https://omia.org/OMIA002301/9615/"},"species":"NCBITaxon:9615","summary":"Laryngeal paralysis and polyneuropathy, CNTNAP1-related. Expected gene CNTNAP1 (ENSCAFG00845008178), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Dachshund, Miniature","disease_group_id":"VHCASEGROUP:omia-2305","evaluation":{"discovery_mask_disease_ids":["OMIA:002305-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:c26a97d490bb818f63031bfd1e47bcfb1aae52857cd1e64486c9bc7f5c777a23","OMIA:002305-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845012386","id":"case-omia-002305-sgca","label":"Muscular dystrophy, limb-girdle, type R3 (LGMDR3)","phenotypes":{"excluded":[],"present":["HP:0002015","HP:0003546","HP:0003560","HP:0006785"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2021,"reference":{"label":"OMIA:002305-9615","url":"https://omia.org/OMIA002305/9615/"},"species":"NCBITaxon:9615","summary":"Muscular dystrophy, limb-girdle, type R3 (LGMDR3). Expected gene SGCA (ENSCAFG00845012386), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Czechoslovakian Wolfdog, German Shepherd Dog, Saarloos Wolfhond","disease_group_id":"VHCASEGROUP:omia-2314","evaluation":{"discovery_mask_disease_ids":["OMIA:002314-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:9a29fe7161b4aa1e6667df03998a382cafa710f684942b23a3bed1d95dd70848","OMIA:002314-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845007030","id":"case-omia-002314-lhx3","label":"Pituitary hormone deficiency, LHX3-related","phenotypes":{"excluded":[],"present":["HP:0000839","HP:0001510","HP:0001596","HP:0008245","HP:0008850","HP:0011748"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:002314-9615","url":"https://omia.org/OMIA002314/9615/"},"species":"NCBITaxon:9615","summary":"Pituitary hormone deficiency, LHX3-related. Expected gene LHX3 (ENSCAFG00845007030), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Finnish Lapphund, Lapponian Herder","disease_group_id":"VHCASEGROUP:omia-2320","evaluation":{"discovery_mask_disease_ids":["OMIA:002320-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:fa0ebd2577ae79f649fc262e64ad440c055265edfaebff78075fffa25416142c","OMIA:002320-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845027707","id":"case-omia-002320-ift122","label":"Retinal atrophy, progressive, IFT122-related","phenotypes":{"excluded":[],"present":["HP:0000510","HP:0000556","HP:0000662","HP:0001105"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2021,"reference":{"label":"OMIA:002320-9615","url":"https://omia.org/OMIA002320/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy, progressive, IFT122-related. Expected gene IFT122 (ENSCAFG00845027707), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"English Springer Spaniel","disease_group_id":"VHCASEGROUP:omia-2332","evaluation":{"discovery_mask_disease_ids":["OMIA:002332-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:eb6f97e3b463cafbdf492ad40d00f5a3573cca4bbf4442d4456a18d944c7a6b6","OMIA:002332-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845011629","id":"case-omia-002332-kcnq1","label":"Long QT syndrome, KCNQ1-related","phenotypes":{"excluded":[],"present":["HP:0001657","HP:0001699","HP:0003115"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:002332-9615","url":"https://omia.org/OMIA002332/9615/"},"species":"NCBITaxon:9615","summary":"Long QT syndrome, KCNQ1-related. Expected gene KCNQ1 (ENSCAFG00845011629), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"English Cocker Spaniel","disease_group_id":"VHCASEGROUP:omia-2348","evaluation":{"discovery_mask_disease_ids":["OMIA:002348-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:72cdfd0b46109a01090c24f86dfc24e9177e175fbc4cd5cdf761bef19ddd2548","OMIA:002348-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845027745","id":"case-omia-002348-ndp","label":"Retinal dysplasia, NDP-related","phenotypes":{"excluded":[],"present":["HP:0000541","HP:0007705","HP:0007973","HP:0100018"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2021,"reference":{"label":"OMIA:002348-9615","url":"https://omia.org/OMIA002348/9615/"},"species":"NCBITaxon:9615","summary":"Retinal dysplasia, NDP-related. Expected gene NDP (ENSCAFG00845027745), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Giant Schnauzer, Schnauzer, Standard","disease_group_id":"VHCASEGROUP:omia-2365","evaluation":{"discovery_mask_disease_ids":["OMIA:002365-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:af2af0f9f69ae4f891d15526d0555929df38d720489e9d6b077f29847c825f00","OMIA:002365-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845028870","id":"case-omia-002365-rbm20","label":"Cardiomyopathy, dilated, RBM20-related","phenotypes":{"excluded":[],"present":["HP:0001635","HP:0001644","HP:0006673","HP:4000141"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2014,"reference":{"label":"OMIA:002365-9615","url":"https://omia.org/OMIA002365/9615/"},"species":"NCBITaxon:9615","summary":"Cardiomyopathy, dilated, RBM20-related. Expected gene RBM20 (ENSCAFG00845028870), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Italian Greyhound, Staffordshire Bull Terrier","disease_group_id":"VHCASEGROUP:omia-2459","evaluation":{"discovery_mask_disease_ids":["OMIA:002459-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:a287a1280c787a2a31e9d03ff33b1022b258fe064a4758dc5ef44ba67e709c8d","OMIA:002459-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845001120","id":"case-omia-002459-lama2","label":"Congenital muscular dystrophy, LAMA2-related","phenotypes":{"excluded":[],"present":["HP:0001510","HP:0003202","HP:0003560","HP:0003700","HP:0100297"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2021,"reference":{"label":"OMIA:002459-9615","url":"https://omia.org/OMIA002459/9615/"},"species":"NCBITaxon:9615","summary":"Congenital muscular dystrophy, LAMA2-related. Expected gene LAMA2 (ENSCAFG00845001120), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-2460","evaluation":{"discovery_mask_disease_ids":["OMIA:002460-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:9cc303f60c8a60f0cffb2f73b6fa7ea86bacc929a3ec816ce5b9f43632164fac","OMIA:002460-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845010461","id":"case-omia-002460-large","label":"Muscular dystrophy-dystroglycanopathy, LARGE1-related","phenotypes":{"excluded":[],"present":["HP:0003236","HP:0003560","HP:0004322","HP:0033454","HP:0100297"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2021,"reference":{"label":"OMIA:002460-9615","url":"https://omia.org/OMIA002460/9615/"},"species":"NCBITaxon:9615","summary":"Muscular dystrophy-dystroglycanopathy, LARGE1-related. Expected gene LARGE (ENSCAFG00845010461), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Italian Cane Corso","disease_group_id":"VHCASEGROUP:omia-2465","evaluation":{"discovery_mask_disease_ids":["OMIA:002465-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:6663674af39cbaf805b986dc4874aa7a7ce49cff1284006c85a5a9ea1cec0275","OMIA:002465-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845030361","id":"case-omia-002465-mia3","label":"Dental-skeletal-retinal anomaly, MIA3-related","phenotypes":{"excluded":[],"present":["HP:0000164","HP:0000546","HP:0000572","HP:0000703"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2021,"reference":{"label":"OMIA:002465-9615","url":"https://omia.org/OMIA002465/9615/"},"species":"NCBITaxon:9615","summary":"Dental-skeletal-retinal anomaly, MIA3-related. Expected gene MIA3 (ENSCAFG00845030361), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Shetland Sheepdog","disease_group_id":"VHCASEGROUP:omia-2484","evaluation":{"discovery_mask_disease_ids":["OMIA:002484-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:c9730e66b1eaab1e8fb9294f065a10c4bb29b8347dca735566eb273468a8e11d","OMIA:002484-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845003891","id":"case-omia-002484-bbs2","label":"Bardet-Biedl syndrome 2","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0000546","HP:0001105"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2021,"reference":{"label":"OMIA:002484-9615","url":"https://omia.org/OMIA002484/9615/"},"species":"NCBITaxon:9615","summary":"Bardet-Biedl syndrome 2. Expected gene BBS2 (ENSCAFG00845003891), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Dalmatian","disease_group_id":"VHCASEGROUP:omia-2539","evaluation":{"discovery_mask_disease_ids":["OMIA:002539-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:9c4fd7096546deed9325cb9afabec7db118d7261cb1921766d96b4ca05d808c5","OMIA:002539-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845029225","id":"case-omia-002539-anln","label":"Respiratory distress syndrome, ANLN-related","phenotypes":{"excluded":[],"present":["HP:0002098","HP:0002206","HP:0002878","HP:0033363","HP:0033677"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2017,"reference":{"label":"OMIA:002539-9615","url":"https://omia.org/OMIA002539/9615/"},"species":"NCBITaxon:9615","summary":"Respiratory distress syndrome, ANLN-related. Expected gene ANLN (ENSCAFG00845029225), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Bull Mastiff","disease_group_id":"VHCASEGROUP:omia-2551","evaluation":{"discovery_mask_disease_ids":["OMIA:002551-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:6418c05412e4f755f7b7c55993283cca577109f130e241da1366d068d0badb7e","OMIA:002551-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845015898","id":"case-omia-002551-mff","label":"Mitochondrial fission encephalopathy","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0001251","HP:0001334","HP:0003687","HP:0040078"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2022,"reference":{"label":"OMIA:002551-9615","url":"https://omia.org/OMIA002551/9615/"},"species":"NCBITaxon:9615","summary":"Mitochondrial fission encephalopathy. Expected gene MFF (ENSCAFG00845015898), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"English Springer Spaniel, Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-2564","evaluation":{"discovery_mask_disease_ids":["OMIA:002564-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:2201751beab597586f77b44563a4262c0968ebbf989bff53e5a6906801c95899","OMIA:002564-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845020691","id":"case-omia-002564-ehbp1l1","label":"Dyserythropoietic anemia and myopathy syndrome","phenotypes":{"excluded":[],"present":["HP:0001508","HP:0001931","HP:0002028","HP:0003202","HP:0003546","HP:0003687","HP:0003690","HP:0003700","HP:0004810","HP:0010972","HP:0011951","HP:0012132","HP:0034280"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2022,"reference":{"label":"OMIA:002564-9615","url":"https://omia.org/OMIA002564/9615/"},"species":"NCBITaxon:9615","summary":"Dyserythropoietic anemia and myopathy syndrome. Expected gene EHBP1L1 (ENSCAFG00845020691), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Cavalier King Charles Spaniel","disease_group_id":"VHCASEGROUP:omia-2585","evaluation":{"discovery_mask_disease_ids":["OMIA:002585-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:389b9015d23a4681769f9e1d61d8a96c7f4513206e3d6b62741d775b521554a5","OMIA:002585-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845004219","id":"case-omia-002585-acadm","label":"Acyl-CoA dehydrogenase, medium chain, deficiency of","phenotypes":{"excluded":[],"present":["HP:0001992","HP:0002384","HP:0007359"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2022,"reference":{"label":"OMIA:002585-9615","url":"https://omia.org/OMIA002585/9615/"},"species":"NCBITaxon:9615","summary":"Acyl-CoA dehydrogenase, medium chain, deficiency of. Expected gene ACADM (ENSCAFG00845004219), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Dalmatian, Weimaraner","disease_group_id":"VHCASEGROUP:omia-2591","evaluation":{"discovery_mask_disease_ids":["OMIA:002591-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:1e63627bb969530d6f1d575f7abc4a699ff9325d85065b11861da40601dd60d6","OMIA:002591-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845010898","id":"case-omia-002591-cnp","label":"Lysosomal storage disease, CNP-related","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0001268","HP:0002070","HP:0002283","HP:0002360","HP:0002607","HP:0012444"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2022,"reference":{"label":"OMIA:002591-9615","url":"https://omia.org/OMIA002591/9615/"},"species":"NCBITaxon:9615","summary":"Lysosomal storage disease, CNP-related. Expected gene CNP (ENSCAFG00845010898), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Working Kelpie","disease_group_id":"VHCASEGROUP:omia-2602","evaluation":{"discovery_mask_disease_ids":["OMIA:002602-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:41025e3499f2d3d286e2315ff94bf659fa09cbbb094b767427ca258fdc17c6ee","OMIA:002602-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845025852","id":"case-omia-002602-vmp1","label":"Cerebellar abiotrophy, VMP1-related","phenotypes":{"excluded":[],"present":["HP:0001251","HP:0002069","HP:0002080","HP:0002346","HP:0003376"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2022,"reference":{"label":"OMIA:002602-9615","url":"https://omia.org/OMIA002602/9615/"},"species":"NCBITaxon:9615","summary":"Cerebellar abiotrophy, VMP1-related. Expected gene VMP1 (ENSCAFG00845025852), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Vizsla","disease_group_id":"VHCASEGROUP:omia-2606","evaluation":{"discovery_mask_disease_ids":["OMIA:002606-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:84aa06faae7c87d05c120ca52d22050ecaabb98f8d889dd96c3f0af017a0cc5a","OMIA:002606-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845029954","id":"case-omia-002606-pcyt1a","label":"Skeletal dysplasia 3, PCYT1A-related","phenotypes":{"excluded":[],"present":["HP:0000548","HP:0002652","HP:0006385"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2022,"reference":{"label":"OMIA:002606-9615","url":"https://omia.org/OMIA002606/9615/"},"species":"NCBITaxon:9615","summary":"Skeletal dysplasia 3, PCYT1A-related. Expected gene PCYT1A (ENSCAFG00845029954), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-2608","evaluation":{"discovery_mask_disease_ids":["OMIA:002608-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:9bd702be166fd970871debdd0aad61a2bfe37a074d563bcccbef61674772083f","OMIA:002608-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845020199","id":"case-omia-002608-atp7a","label":"Modifier of copper toxicosis, ATP7A-related","phenotypes":{"excluded":[],"present":["HP:0000707","HP:0001251","HP:0001409","HP:0001508","HP:0002028","HP:0011967","HP:0200123"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2016,"reference":{"label":"OMIA:002608-9615","url":"https://omia.org/OMIA002608/9615/"},"species":"NCBITaxon:9615","summary":"Modifier of copper toxicosis, ATP7A-related. Expected gene ATP7A (ENSCAFG00845020199), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Australian Shepherd","disease_group_id":"VHCASEGROUP:omia-2623","evaluation":{"discovery_mask_disease_ids":["OMIA:002623-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:8aa2cd2f7079d0802610783d6e8134c84fca96f8d89e6e5736581c4fc8c52a8d","OMIA:002623-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845028016","id":"case-omia-002623-stk36","label":"Ciliary dyskinesia, primary, STK36-related","phenotypes":{"excluded":[],"present":["HP:0002205","HP:0012265","HP:0031417"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2023,"reference":{"label":"OMIA:002623-9615","url":"https://omia.org/OMIA002623/9615/"},"species":"NCBITaxon:9615","summary":"Ciliary dyskinesia, primary, STK36-related. Expected gene STK36 (ENSCAFG00845028016), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"German Spitz","disease_group_id":"VHCASEGROUP:omia-2646","evaluation":{"discovery_mask_disease_ids":["OMIA:002646-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:39582ba59cdc8457794ca137f33925f9909327505ea8527c78dfa07a1e80d610","OMIA:002646-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845027102","id":"case-omia-002646-gucy2d","label":"Retinal atrophy, progressive, GUCY2D-related","phenotypes":{"excluded":[],"present":["HP:0001105","HP:0007875","HP:0030329"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2023,"reference":{"label":"OMIA:002646-9615","url":"https://omia.org/OMIA002646/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy, progressive, GUCY2D-related. Expected gene GUCY2D (ENSCAFG00845027102), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Weimaraner","disease_group_id":"VHCASEGROUP:omia-2663","evaluation":{"discovery_mask_disease_ids":["OMIA:002663-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:1307e4a8eeef6842f34c9a73210a35fd4117bc61421499700f6a31715b2b7c6d","OMIA:002663-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845009439","id":"case-omia-002663-tnr","label":"Dystonia-ataxia syndrome, paroxysmal, TNR-related","phenotypes":{"excluded":[],"present":["HP:0001288","HP:0002268","HP:0100022"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2023,"reference":{"label":"OMIA:002663-9615","url":"https://omia.org/OMIA002663/9615/"},"species":"NCBITaxon:9615","summary":"Dystonia-ataxia syndrome, paroxysmal, TNR-related. Expected gene TNR (ENSCAFG00845009439), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Basenji","disease_group_id":"VHCASEGROUP:omia-2683","evaluation":{"discovery_mask_disease_ids":["OMIA:002683-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b57f78ba60b6ca576e1cfd4fb5afcc57899c9ac439edd15e8e5696818cf06384","OMIA:002683-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845021476","id":"case-omia-002683-fan1","label":"Fanconi syndrome, FAN1-related","phenotypes":{"excluded":[],"present":["HP:0000083","HP:0000124","HP:0000707","HP:0001324","HP:0001824","HP:0001919","HP:0001942","HP:0002909","HP:0012211"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:002683-9615","url":"https://omia.org/OMIA002683/9615/"},"species":"NCBITaxon:9615","summary":"Fanconi syndrome, FAN1-related. Expected gene FAN1 (ENSCAFG00845021476), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Manchester Terrier","disease_group_id":"VHCASEGROUP:omia-2710","evaluation":{"discovery_mask_disease_ids":["OMIA:002710-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:416f87d2da85bcfc200b329e968a01011da1e950f0cdefbedcd5edfff115b3be","OMIA:002710-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845014429","id":"case-omia-002710-abcc9","label":"Cardiomyopathy, dilated, ABCC9-related","phenotypes":{"excluded":[],"present":["HP:0001644","HP:0001645","HP:0001699"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2023,"reference":{"label":"OMIA:002710-9615","url":"https://omia.org/OMIA002710/9615/"},"species":"NCBITaxon:9615","summary":"Cardiomyopathy, dilated, ABCC9-related. Expected gene ABCC9 (ENSCAFG00845014429), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"German Shepherd Dog","disease_group_id":"VHCASEGROUP:omia-2716","evaluation":{"discovery_mask_disease_ids":["OMIA:002716-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:6da8c64d43157d2a6a52537ab6ca4fd394ca3ee816fda7c61e3ffc1d157be45a","OMIA:002716-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845005808","id":"case-omia-002716-mchr2","label":"Megaoesophagus, MCHR2-related","phenotypes":{"excluded":[],"present":["HP:0000839","HP:0011951","HP:0012020"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2022,"reference":{"label":"OMIA:002716-9615","url":"https://omia.org/OMIA002716/9615/"},"species":"NCBITaxon:9615","summary":"Megaoesophagus, MCHR2-related. Expected gene MCHR2 (ENSCAFG00845005808), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Saarloos Wolfhond","disease_group_id":"VHCASEGROUP:omia-2728","evaluation":{"discovery_mask_disease_ids":["OMIA:002728-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:fee655e8ae6861038318fda265c80b8b2096b46de50fa6956e881852bf759665","OMIA:002728-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008933","id":"case-omia-002728-pcyt2","label":"PCYT2 deficiency","phenotypes":{"excluded":[],"present":["HP:0000529","HP:0000546","HP:0000572","HP:0000708","HP:0000764","HP:0001105","HP:0001258","HP:0001268","HP:0001288","HP:0003690","HP:0012444","HP:0040078"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2024,"reference":{"label":"OMIA:002728-9615","url":"https://omia.org/OMIA002728/9615/"},"species":"NCBITaxon:9615","summary":"PCYT2 deficiency. Expected gene PCYT2 (ENSCAFG00845008933), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Great Pyrenees","disease_group_id":"VHCASEGROUP:omia-2780","evaluation":{"discovery_mask_disease_ids":["OMIA:002780-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:d607d3077342cf846549baee04ce7e7d05c59506015ed3cb91e5add5b2c93fe9","OMIA:002780-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845020013","id":"case-omia-002780-sacs","label":"Ataxia, spastic, SACS-related","phenotypes":{"excluded":[],"present":["HP:0001251","HP:0002073","HP:0002497","HP:0007009","HP:0009830"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2023,"reference":{"label":"OMIA:002780-9615","url":"https://omia.org/OMIA002780/9615/"},"species":"NCBITaxon:9615","summary":"Ataxia, spastic, SACS-related. Expected gene SACS (ENSCAFG00845020013), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Nova Scotia Duck Tolling Retriever","disease_group_id":"VHCASEGROUP:omia-2796","evaluation":{"discovery_mask_disease_ids":["OMIA:002796-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:bee6e36ee43eec339dc393cefef70f71b502cf9ef8e41cdea90f85de3ee13256","OMIA:002796-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845010163","id":"case-omia-002796-lmna","label":"Cardiomyopathy, dilated, LMNA-related","phenotypes":{"excluded":[],"present":["HP:0001635","HP:0001644","HP:0001685","HP:0001699"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2023,"reference":{"label":"OMIA:002796-9615","url":"https://omia.org/OMIA002796/9615/"},"species":"NCBITaxon:9615","summary":"Cardiomyopathy, dilated, LMNA-related. Expected gene LMNA (ENSCAFG00845010163), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Eurasier","disease_group_id":"VHCASEGROUP:omia-2814","evaluation":{"discovery_mask_disease_ids":["OMIA:002814-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:7841a46984152d8525d5fe90c1d8f54808fbc87819dc9e4f7413dfffb47d0f9c","OMIA:002814-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008187","id":"case-omia-002814-mecr","label":"Polioencephalopathy, MECR-related","phenotypes":{"excluded":[],"present":["HP:0001288","HP:0002283","HP:0012444","HP:0020049"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2023,"reference":{"label":"OMIA:002814-9615","url":"https://omia.org/OMIA002814/9615/"},"species":"NCBITaxon:9615","summary":"Polioencephalopathy, MECR-related. Expected gene MECR (ENSCAFG00845008187), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Lancashire Heeler","disease_group_id":"VHCASEGROUP:omia-2916","evaluation":{"discovery_mask_disease_ids":["OMIA:002916-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:84f8947ac4af015fb29585be5e9ec569bdaa2a045b305ee4040d2ee0171c7e79","OMIA:002916-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845023922","id":"case-omia-002916-itpr3","label":"Charcot-Marie-Tooth disease, ITPR3-related","phenotypes":{"excluded":[],"present":["HP:0003431","HP:0003457","HP:0009830","HP:0033383"]},"provenance":{"mode_1_is_circular":false,"phenotype_source":"omia-structured"},"publication_year":2025,"reference":{"label":"OMIA:002916-9615","url":"https://omia.org/OMIA002916/9615/"},"species":"NCBITaxon:9615","summary":"Charcot-Marie-Tooth disease, ITPR3-related. Expected gene ITPR3 (ENSCAFG00845023922), corroborated by both crosswalk providers. Phenotypes are OMIA structured annotations."} +{"breed":"Basset Hound","disease_group_id":"VHCASEGROUP:omia-3010","evaluation":{"discovery_mask_disease_ids":["OMIA:003010-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b3f180e652d40a623410696df48fd96b2247f73a42982499d80f35369822febb","OMIA:003010-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845016557","id":"case-omia-003010-rbck1","label":"Polyglucosan body myopathy, RBCK1-related","phenotypes":{"excluded":[],"present":["HP:0001635","HP:0001699","HP:0003690"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2025,"reference":{"label":"OMIA:003010-9615","url":"https://omia.org/OMIA003010/9615/"},"species":"NCBITaxon:9615","summary":"Polyglucosan body myopathy, RBCK1-related. Expected gene RBCK1 (ENSCAFG00845016557), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Poodle, Standard","disease_group_id":"VHCASEGROUP:omia-3028","evaluation":{"discovery_mask_disease_ids":["OMIA:003028-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:82299265e4c70765205f25e379fd950c69de1dac00d9d2911d932ed033d15312","OMIA:003028-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845010144","id":"case-omia-003028-spata7","label":"Retinal atrophy, cone-rod dystrophy, SPATA7-related","phenotypes":{"excluded":[],"present":["HP:0000512","HP:0000529","HP:0012047"]},"provenance":{"mode_1_is_circular":false,"phenotype_source":"omia-structured"},"publication_year":2025,"reference":{"label":"OMIA:003028-9615","url":"https://omia.org/OMIA003028/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy, cone-rod dystrophy, SPATA7-related. Expected gene SPATA7 (ENSCAFG00845010144), corroborated by both crosswalk providers. Phenotypes are OMIA structured annotations."} +{"breed":"Mixed Breed","disease_group_id":"VHCASEGROUP:omia-3056","evaluation":{"discovery_mask_disease_ids":["OMIA:003056-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:9a5d3d5be80bd4a402c159bcb8b06d65913e41c71278638570965cc1162a5d00","OMIA:003056-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845030751","id":"case-omia-003056-gatm","label":"Myopathy, creatine deficiency disorder, GATM-related","phenotypes":{"excluded":[],"present":["HP:0003202","HP:0003546","HP:0003554","HP:0003700"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2026,"reference":{"label":"OMIA:003056-9615","url":"https://omia.org/OMIA003056/9615/"},"species":"NCBITaxon:9615","summary":"Myopathy, creatine deficiency disorder, GATM-related. Expected gene GATM (ENSCAFG00845030751), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Mixed Breed","disease_group_id":"VHCASEGROUP:omia-3057","evaluation":{"discovery_mask_disease_ids":["OMIA:003057-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:a9f742e67560b0fa0a901f804cdbed558b38b3d3f5ce9689c2ed855380b6e242","OMIA:003057-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845003523","id":"case-omia-003057-emc1","label":"Cerebellar atrophy, EMC1-related","phenotypes":{"excluded":[],"present":["HP:0001251","HP:0001272","HP:0002073"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2026,"reference":{"label":"OMIA:003057-9615","url":"https://omia.org/OMIA003057/9615/"},"species":"NCBITaxon:9615","summary":"Cerebellar atrophy, EMC1-related. Expected gene EMC1 (ENSCAFG00845003523), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Rottweiler","disease_group_id":"VHCASEGROUP:omia-3059","evaluation":{"discovery_mask_disease_ids":["OMIA:003059-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:e9ecb4ecbc32f365484521304f265ad63822f2686d916acdf0ea1829f2f8566c","OMIA:003059-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008772","id":"case-omia-003059-tg","label":"Hypothyroidism and dwarfism, TG-related","phenotypes":{"excluded":[],"present":["HP:0000708","HP:0001072","HP:0001510","HP:0002925"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2026,"reference":{"label":"OMIA:003059-9615","url":"https://omia.org/OMIA003059/9615/"},"species":"NCBITaxon:9615","summary":"Hypothyroidism and dwarfism, TG-related. Expected gene TG (ENSCAFG00845008772), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} +{"breed":"Belgian Shepherd Dog, Malinois","disease_group_id":"VHCASEGROUP:omia-3061","evaluation":{"discovery_mask_disease_ids":["OMIA:003061-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:4a4c39c278f8831c11190f01062fd7800fbfe152b912832741e59a7f432c12dd","OMIA:003061-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845022681","id":"case-omia-003061-necap1","label":"Leukoencephalomyelopathy, NECAP1-related","phenotypes":{"excluded":[],"present":["HP:0001105","HP:0002059","HP:0002283","HP:0020049"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2026,"reference":{"label":"OMIA:003061-9615","url":"https://omia.org/OMIA003061/9615/"},"species":"NCBITaxon:9615","summary":"Leukoencephalomyelopathy, NECAP1-related. Expected gene NECAP1 (ENSCAFG00845022681), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} diff --git a/data/browser/gene-profiles/gene-profiles-0.2f673c01c20a.jsonl.gz b/data/browser/gene-profiles/gene-profiles-0.2f673c01c20a.jsonl.gz new file mode 100644 index 0000000000000000000000000000000000000000..1da58fa7ed96de4e0443b37184c33ea4e0a6d52d --- /dev/null +++ b/data/browser/gene-profiles/gene-profiles-0.2f673c01c20a.jsonl.gz @@ -0,0 +1,3 @@ +version https://git-lfs.github.com/spec/v1 +oid sha256:2f673c01c20a2440cb063ae3fc122712de62643b5ed94dac34b2c08dadcf8967 +size 118852 diff --git a/data/browser/gene-profiles/gene-profiles-1.703f2f4e980e.jsonl.gz b/data/browser/gene-profiles/gene-profiles-1.703f2f4e980e.jsonl.gz new file mode 100644 index 0000000000000000000000000000000000000000..0cfa606235072c86d9075edb1c8c72d972b45c0c --- /dev/null +++ b/data/browser/gene-profiles/gene-profiles-1.703f2f4e980e.jsonl.gz @@ -0,0 +1,3 @@ +version https://git-lfs.github.com/spec/v1 +oid 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+{"alt_ids":[],"definition":null,"id":"HP:0000001","name":"All","obsolete":false,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deviation from the norm of height with respect to that which is expected according to age and gender norms.","id":"HP:0000002","name":"Abnormality of body height","obsolete":false,"parents":["HP:0001507"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of body height"}]} +{"alt_ids":["HP:0004715"],"definition":"Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.","id":"HP:0000003","name":"Multicystic kidney dysplasia","obsolete":false,"parents":["HP:0000107"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multicystic dysplastic kidney"},{"scope":"EXACT","text":"Multicystic kidneys"},{"scope":"EXACT","text":"Multicystic renal dysplasia"}]} +{"alt_ids":["HP:0001425","HP:0001453","HP:0001461","HP:0010985"],"definition":"The pattern in which a particular genetic trait or disorder is passed from one generation to the next.","id":"HP:0000005","name":"Mode of inheritance","obsolete":false,"parents":["HP:0000001"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inheritance"}]} +{"alt_ids":["HP:0001415","HP:0001447","HP:0001448","HP:0001451","HP:0001452","HP:0001455","HP:0001456","HP:0001463"],"definition":"A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. 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At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.","id":"HP:0000054","name":"Micropenis","obsolete":false,"parents":["HP:0008736"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short penis"},{"scope":"EXACT","text":"Small penis"}]} +{"alt_ids":[],"definition":"Any structural abnormality of the female external genitalia.","id":"HP:0000055","name":"Abnormal female external genitalia morphology","obsolete":false,"parents":["HP:0000811","HP:0010460"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal female external genitalia"},{"scope":"EXACT","text":"Abnormality of female external genitalia"}]} +{"alt_ids":[],"definition":"Any structural abnormality of the clitoris.","id":"HP:0000056","name":"Abnormal clitoris morphology","obsolete":false,"parents":["HP:0000055"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the clit"},{"scope":"EXACT","text":"Abnormality of the clitoris"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000057","name":"obsolete Clitoromegaly","obsolete":true,"parents":[],"replaced_by":["HP:0008665"],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the labia, the externally visible portions of the vulva.","id":"HP:0000058","name":"Abnormal labia morphology","obsolete":false,"parents":["HP:0000055"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the labia"}]} +{"alt_ids":[],"definition":"Undergrowth of the outer labia.","id":"HP:0000059","name":"Hypoplastic labia majora","obsolete":false,"parents":["HP:0000066","HP:0012881"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplasia of labia majora"},{"scope":"EXACT","text":"Small labia majora"},{"scope":"EXACT","text":"Underdeveloped vaginal lips"}]} +{"alt_ids":[],"definition":"Developmental hypoplasia of the clitoris.","id":"HP:0000060","name":"Clitoral hypoplasia","obsolete":false,"parents":["HP:0012815","HP:0040255"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic clitoris"},{"scope":"EXACT","text":"Small clitoris"},{"scope":"EXACT","text":"Underdeveloped clit"}]} +{"alt_ids":["HP:0008690"],"definition":"Ambiguous genitalia in an individual with XX genetic gender.","id":"HP:0000061","name":"Ambiguous genitalia, female","obsolete":false,"parents":["HP:0000055","HP:0000062"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Ambiguous genitalia due to virilization"},{"scope":"EXACT","text":"Atypical appearance of female genitals"}]} +{"alt_ids":["HP:0008685","HP:0008693"],"definition":"A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.","id":"HP:0000062","name":"Ambiguous genitalia","obsolete":false,"parents":["HP:0000811"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ambiguous external genitalia"},{"scope":"EXACT","text":"Ambiguous external genitalia at birth"},{"scope":"EXACT","text":"Intersex genitalia"}]} +{"alt_ids":[],"definition":"Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.","id":"HP:0000063","name":"Fused labia minora","obsolete":false,"parents":["HP:0012880"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused inner lips"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000064","name":"Hypoplastic labia minora","obsolete":false,"parents":["HP:0000066","HP:0012880"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Underdeveloped inner lips"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000065","name":"Labial hypertrophy","obsolete":false,"parents":["HP:0000058"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged vaginal lips"},{"scope":"EXACT","text":"Enlargement of the labia"},{"scope":"EXACT","text":"Enlargement of the vaginal lips"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000066","name":"Labial hypoplasia","obsolete":false,"parents":["HP:0000058","HP:0012815"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic labia"},{"scope":"EXACT","text":"Underdeveloped labia"}]} +{"alt_ids":[],"definition":"Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females.","id":"HP:0000067","name":"Urethral atresia, female","obsolete":false,"parents":["HP:0000055","HP:0000068"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Congenital anomaly characterized by closure or failure to develop an opening in the urethra.","id":"HP:0000068","name":"Urethral atresia","obsolete":false,"parents":["HP:0000795"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent urethral opening"},{"scope":"EXACT","text":"Urethral opening absent"}]} +{"alt_ids":["HP:0006001"],"definition":"An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.","id":"HP:0000069","name":"Abnormality of the ureter","obsolete":false,"parents":["HP:0010935"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the ureters"},{"scope":"EXACT","text":"Ureter issue"},{"scope":"EXACT","text":"Ureteral anomalies"}]} +{"alt_ids":[],"definition":"A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.","id":"HP:0000070","name":"Ureterocele","obsolete":false,"parents":["HP:0025633"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a stenotic, i.e., constricted ureter.","id":"HP:0000071","name":"Ureteral stenosis","obsolete":false,"parents":["HP:0006000"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrowing of the ureter"},{"scope":"EXACT","text":"Ureteric stenosis"}]} +{"alt_ids":["HP:0006003"],"definition":"The distention of the ureter with urine.","id":"HP:0000072","name":"Hydroureter","obsolete":false,"parents":["HP:0025633"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dilated ureter"},{"scope":"EXACT","text":"Megaureter"},{"scope":"EXACT","text":"Swelling of ureter"},{"scope":"EXACT","text":"Ureteral dilatation"},{"scope":"RELATED","text":"Uroureter"},{"scope":"EXACT","text":"Wide ureter"}]} +{"alt_ids":[],"definition":"A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.","id":"HP:0000073","name":"Ureteral duplication","obsolete":false,"parents":["HP:0025633"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Double ureter"}]} +{"alt_ids":[],"definition":"Blockage of urine flow from the renal pelvis to the proximal ureter.","id":"HP:0000074","name":"Ureteropelvic junction obstruction","obsolete":false,"parents":["HP:0000071"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pelviureteric junction obstruction"},{"scope":"EXACT","text":"Ureteropelvic junction stenosis"}]} +{"alt_ids":[],"definition":"A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.","id":"HP:0000075","name":"Renal duplication","obsolete":false,"parents":["HP:0005217","HP:0012210"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplex kidney"},{"scope":"EXACT","text":"Duplicated kidney"},{"scope":"EXACT","text":"Extra kidney"},{"scope":"RELATED","text":"Supernumerary kidney"}]} +{"alt_ids":["HP:0005998","HP:0006002","HP:0008667"],"definition":"Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.","id":"HP:0000076","name":"Vesicoureteral reflux","obsolete":false,"parents":["HP:0000009","HP:0025634"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ureteral reflux"},{"scope":"EXACT","text":"Ureteric reflux"},{"scope":"EXACT","text":"VUR"},{"scope":"EXACT","text":"Vesico-ureteral reflux"},{"scope":"EXACT","text":"Vesicoureteric reflux"}]} +{"alt_ids":[],"definition":"An abnormality of the kidney.","id":"HP:0000077","name":"Abnormality of the kidney","obsolete":false,"parents":["HP:0010935"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal kidney"},{"scope":"EXACT","text":"Abnormality of the kidney"},{"scope":"EXACT","text":"Renal anomalies"},{"scope":"EXACT","text":"Renal anomaly"}]} +{"alt_ids":[],"definition":"An abnormality of the genital system.","id":"HP:0000078","name":"Abnormality of the genital system","obsolete":false,"parents":["HP:0000119"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormality of the reproductive system"},{"scope":"EXACT","text":"Genital abnormalities"},{"scope":"EXACT","text":"Genital abnormality"},{"scope":"EXACT","text":"Genital anomalies"},{"scope":"EXACT","text":"Genital defects"}]} +{"alt_ids":[],"definition":"An abnormality of the urinary system.","id":"HP:0000079","name":"Abnormality of the urinary system","obsolete":false,"parents":["HP:0000119"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Urinary tract abnormalities"},{"scope":"EXACT","text":"Urinary tract abnormality"},{"scope":"EXACT","text":"Urinary tract anomalies"}]} +{"alt_ids":[],"definition":"An abnormal functionality of the genital system.","id":"HP:0000080","name":"Abnormality of reproductive system physiology","obsolete":false,"parents":["HP:0000078"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Abnormality of genital physiology"},{"scope":"EXACT","text":"Abnormality of reproductive system physiology"},{"scope":"EXACT","text":"Genital functional abnormality"}]} +{"alt_ids":[],"definition":"A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice.","id":"HP:0000081","name":"Duplicated collecting system","obsolete":false,"parents":["HP:0004742"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Double collecting system"},{"scope":"EXACT","text":"Double urinary collecting systems on intravenous pyelography"},{"scope":"EXACT","text":"Duplex collecting system"},{"scope":"EXACT","text":"Duplicated renal collecting system"}]} +{"alt_ids":["HP:0000084","HP:0004723"],"definition":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","id":"HP:0000083","name":"Renal insufficiency","obsolete":false,"parents":["HP:0012211"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Renal failure"},{"scope":"EXACT","text":"Renal failure in adulthood"}]} +{"alt_ids":[],"definition":"A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.","id":"HP:0000085","name":"Horseshoe kidney","obsolete":false,"parents":["HP:0100542"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Fused kidneys"},{"scope":"EXACT","text":"Horseshoe kidney"},{"scope":"EXACT","text":"Horseshoe kidneys"}]} +{"alt_ids":[],"definition":"A developmental defect in which a kidney is located in an abnormal anatomic position.","id":"HP:0000086","name":"Ectopic kidney","obsolete":false,"parents":["HP:0100542"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal kidney location"},{"scope":"EXACT","text":"Displaced kidney"},{"scope":"EXACT","text":"Ectopic kidneys"},{"scope":"EXACT","text":"Renal ectopia"}]} +{"alt_ids":["HP:0001968","HP:0004741","HP:0008641"],"definition":"Hypoplasia of the kidney.","id":"HP:0000089","name":"Renal hypoplasia","obsolete":false,"parents":["HP:0008678"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic kidney"},{"scope":"EXACT","text":"Hypoplastic kidneys"},{"scope":"EXACT","text":"Small kidneys"},{"scope":"EXACT","text":"Underdeveloped kidneys"}]} +{"alt_ids":["HP:0004748"],"definition":"Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.","id":"HP:0000090","name":"Nephronophthisis","obsolete":false,"parents":["HP:0100957"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"juvenile nephronophthisis"}]} +{"alt_ids":[],"definition":"An abnormality of the renal tubules.","id":"HP:0000091","name":"Abnormal renal tubule morphology","obsolete":false,"parents":["HP:0012575"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the renal tubule"},{"scope":"EXACT","text":"Morphologic abnormality of the renal tubules"}]} +{"alt_ids":["HP:0005578"],"definition":"The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.","id":"HP:0000092","name":"Renal tubular atrophy","obsolete":false,"parents":["HP:0032599"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Renal tubular cell atrophy"},{"scope":"EXACT","text":"Tubular atrophy"}]} +{"alt_ids":[],"definition":"Increased levels of protein in the urine.","id":"HP:0000093","name":"Proteinuria","obsolete":false,"parents":["HP:0020129"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High urine protein levels"},{"scope":"EXACT","text":"Protein in urine"}]} +{"alt_ids":["HP:0033276"],"definition":"A structural anomaly of the glomerulus.","id":"HP:0000095","name":"Abnormal renal glomerulus morphology","obsolete":false,"parents":["HP:0031263"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of renal glomerulus morphology"},{"scope":"EXACT","text":"Morphologic abnormality of the renal glomerulus"}]} +{"alt_ids":["HP:0030761"],"definition":"Accumulation of scar tissue within the glomerulus.","id":"HP:0000096","name":"Glomerular sclerosis","obsolete":false,"parents":["HP:0000095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Glomerulosclerosis"},{"scope":"BROAD","text":"Renal glomerular fibrosis"}]} +{"alt_ids":["HP:0004747"],"definition":"Segmental accumulation of scar tissue in individual (but not all) glomeruli.","id":"HP:0000097","name":"Focal segmental glomerulosclerosis","obsolete":false,"parents":["HP:0000096"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal and segmental glomerular sclerosis"},{"scope":"EXACT","text":"Focal and segmental glomerulosclerosis"},{"scope":"EXACT","text":"focal glomerulosclerosis"}]} +{"alt_ids":["HP:0001527","HP:0003515","HP:0003516"],"definition":"A height above that which is expected according to age and gender norms.","id":"HP:0000098","name":"Tall stature","obsolete":false,"parents":["HP:0000002"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Accelerated linear growth"},{"scope":"EXACT","text":"Increased body height"},{"scope":"EXACT","text":"Increased linear growth"},{"scope":"EXACT","text":"Tall stature"}]} +{"alt_ids":[],"definition":"Inflammation of the renal glomeruli.","id":"HP:0000099","name":"Glomerulonephritis","obsolete":false,"parents":["HP:0000095","HP:0000123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Glomerular nephritis"}]} +{"alt_ids":["HP:0000801","HP:0004718","HP:0008638","HP:0008727"],"definition":"Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.","id":"HP:0000100","name":"Nephrotic syndrome","obsolete":false,"parents":["HP:0012211"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nephrosis"}]} +{"alt_ids":["HP:0200060"],"definition":"An increased rate of urine production.","id":"HP:0000103","name":"Polyuria","obsolete":false,"parents":["HP:0012590"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased urine output"}]} +{"alt_ids":["HP:0000785","HP:0004745","HP:0008680"],"definition":"Agenesis, that is, failure of the kidney to develop during embryogenesis and development.","id":"HP:0000104","name":"Renal agenesis","obsolete":false,"parents":["HP:0008678"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent kidney"},{"scope":"EXACT","text":"Missing kidney"},{"scope":"EXACT","text":"Renal aplasia"}]} +{"alt_ids":[],"definition":"An abnormal increase in the size of the kidney.","id":"HP:0000105","name":"Enlarged kidney","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged kidney"},{"scope":"RELATED","text":"Large kidney"},{"scope":"EXACT","text":"Large kidneys"},{"scope":"EXACT","text":"Nephromegaly"},{"scope":"EXACT","text":"Renal enlargement"}]} +{"alt_ids":["HP:0000088","HP:0000109"],"definition":"A fluid filled sac in the kidney.","id":"HP:0000107","name":"Renal cyst","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Cystic kidney disease"},{"scope":"RELATED","text":"Cystic kidneys"},{"scope":"EXACT","text":"Kidney cyst"},{"scope":"RELATED","text":"Renal cysts"}]} +{"alt_ids":[],"definition":"The presence of multiple cysts at the border between the renal cortex and medulla.","id":"HP:0000108","name":"Renal corticomedullary cysts","obsolete":false,"parents":["HP:0000107","HP:0011035","HP:0100957"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Corticomedullary renal cysts"},{"scope":"RELATED","text":"Renal corticomedullary cystic disease"}]} +{"alt_ids":["HP:0000116","HP:0004721"],"definition":"The presence of developmental dysplasia of the kidney.","id":"HP:0000110","name":"Renal dysplasia","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dysplastic kidneys"},{"scope":"EXACT","text":"Renal adysplasia"}]} +{"alt_ids":[],"definition":"Increased number and size of the juxtaglomerular cells.","id":"HP:0000111","name":"Renal juxtaglomerular cell hypertrophy/hyperplasia","obsolete":false,"parents":["HP:0000095"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A nonspecific term referring to disease or damage of the kidneys.","id":"HP:0000112","name":"Nephropathy","obsolete":false,"parents":["HP:0012211"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Kidney damage"},{"scope":"BROAD","text":"Kidney disease"}]} +{"alt_ids":["HP:0004716","HP:0004739","HP:0004740","HP:0008645","HP:0008673","HP:0008699"],"definition":"The presence of multiple cysts in both kidneys.","id":"HP:0000113","name":"Polycystic kidney dysplasia","obsolete":false,"parents":["HP:0000107"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Polycystic kidney disease"},{"scope":"EXACT","text":"Polycystic kidneys"}]} +{"alt_ids":["HP:0000806"],"definition":"Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.","id":"HP:0000114","name":"Proximal tubulopathy","obsolete":false,"parents":["HP:0000124"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Proximal renal tubule defect"},{"scope":"EXACT","text":"Proximal renal tubulopathy"},{"scope":"EXACT","text":"Proximal tubular defect"},{"scope":"EXACT","text":"Proximal tubule dysfunction"},{"scope":"EXACT","text":"Selective proximal tubular damage"}]} +{"alt_ids":[],"definition":"High urine phosphate in the presence of hypophosphatemia.","id":"HP:0000117","name":"Renal phosphate wasting","obsolete":false,"parents":["HP:0012599"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased renal tubular phosphate reabsorption"},{"scope":"EXACT","text":"Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate"},{"scope":"EXACT","text":"Tubular phosphate reabsorption low"}]} +{"alt_ids":[],"definition":"A phenotypic abnormality.","id":"HP:0000118","name":"Phenotypic abnormality","obsolete":false,"parents":["HP:0000001"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Organ abnormality"}]} +{"alt_ids":["HP:0008658","HP:0008688","HP:0008704","HP:0008713"],"definition":"The presence of any abnormality of the genitourinary system.","id":"HP:0000119","name":"Abnormality of the genitourinary system","obsolete":false,"parents":["HP:0000118"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the GU system"},{"scope":"EXACT","text":"Genitourinary abnormality"},{"scope":"RELATED","text":"Genitourinary disease"},{"scope":"RELATED","text":"Genitourinary dysplasia"},{"scope":"EXACT","text":"Genitourinary tract anomalies"},{"scope":"EXACT","text":"Genitourinary tract malformation"},{"scope":"EXACT","text":"Urogenital abnormalities"},{"scope":"EXACT","text":"Urogenital anomalies"}]} +{"alt_ids":[],"definition":"Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.","id":"HP:0000121","name":"Nephrocalcinosis","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Increased calcium level in kidney"},{"scope":"EXACT","text":"Too much calcium deposited in kidneys"}]} +{"alt_ids":[],"definition":"A unilateral form of agenesis of the kidney.","id":"HP:0000122","name":"Unilateral renal agenesis","obsolete":false,"parents":["HP:0000104"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent kidney on one side"},{"scope":"EXACT","text":"Missing one kidney"},{"scope":"EXACT","text":"Single kidney"},{"scope":"EXACT","text":"Unilateral kidney agenesis"}]} +{"alt_ids":["HP:0008634"],"definition":"The presence of inflammation affecting the kidney.","id":"HP:0000123","name":"Nephritis","obsolete":false,"parents":["HP:0012211","HP:0012649"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Kidney inflammation"}]} +{"alt_ids":[],"definition":"Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid.","id":"HP:0000124","name":"Renal tubular dysfunction","obsolete":false,"parents":["HP:0012211"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal function of filtrating structures in kidney"},{"scope":"EXACT","text":"Renal tubular defect"},{"scope":"RELATED","text":"Renal tubular disease"}]} +{"alt_ids":[],"definition":"A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.","id":"HP:0000125","name":"Pelvic kidney","obsolete":false,"parents":["HP:0000086"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sacral kidney"}]} +{"alt_ids":[],"definition":"Severe distention of the kidney with dilation of the renal pelvis and calices.","id":"HP:0000126","name":"Hydronephrosis","obsolete":false,"parents":["HP:0010946"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).","id":"HP:0000127","name":"Renal salt wasting","obsolete":false,"parents":["HP:0012591"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Loss of salt in urine"},{"scope":"EXACT","text":"Renal salt-wasting"},{"scope":"EXACT","text":"Salt wasting"},{"scope":"EXACT","text":"Salt-wasting"}]} +{"alt_ids":[],"definition":"High urine potassium in the presence of hypokalemia.","id":"HP:0000128","name":"Renal potassium wasting","obsolete":false,"parents":["HP:0012598"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Renal K wasting"}]} +{"alt_ids":["HP:0008630","HP:0008692"],"definition":"An abnormality of the uterus.","id":"HP:0000130","name":"Abnormality of the uterus","obsolete":false,"parents":["HP:0000008"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the uterus"},{"scope":"EXACT","text":"Uterine abnormalities"},{"scope":"EXACT","text":"Uterine malformations"}]} +{"alt_ids":["HP:0008642"],"definition":"The presence of a leiomyoma of the uterus.","id":"HP:0000131","name":"Uterine leiomyoma","obsolete":false,"parents":["HP:0010784"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Benign uterine leiomyomas"},{"scope":"EXACT","text":"Uterine fibroid"}]} +{"alt_ids":["HP:0100609"],"definition":"Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.","id":"HP:0000132","name":"Menorrhagia","obsolete":false,"parents":["HP:0000140","HP:0001892"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormally heavy bleeding during menstruation"},{"scope":"EXACT","text":"Abnormally heavy periods"},{"scope":"EXACT","text":"Hypermenorrhea"}]} +{"alt_ids":["HP:0003243"],"definition":"Gonadal dysgenesis is the name given to any of a multitude of conditions that can cause impaired development of the gonads, i.e., the testes or ovaries, or to the related phenotypic features. The term is to be avoided if possible for new annotations, and more specific terms should be chosen.","id":"HP:0000133","name":"Gonadal dysgenesis","obsolete":false,"parents":["HP:0000812"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mixed gonadal dysgenesis"},{"scope":"EXACT","text":"Pure gonadal dysgenesis"}]} +{"alt_ids":[],"definition":"Decreased functionality of the female gonads, i.e., of the ovary.","id":"HP:0000134","name":"Female hypogonadism","obsolete":false,"parents":["HP:0000135","HP:0031066"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypogonadism, female"}]} +{"alt_ids":[],"definition":"A decreased functionality of the gonad.","id":"HP:0000135","name":"Hypogonadism","obsolete":false,"parents":["HP:0000080","HP:0008373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased activity of gonads"}]} +{"alt_ids":[],"definition":"The presence of a bifid uterus.","id":"HP:0000136","name":"Bifid uterus","obsolete":false,"parents":["HP:0031105"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the ovary.","id":"HP:0000137","name":"Abnormality of the ovary","obsolete":false,"parents":["HP:0000008"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the ovaries"},{"scope":"EXACT","text":"Abnormality of the ovary"},{"scope":"RELATED","text":"Ovarian disease"}]} +{"alt_ids":["HP:0000146"],"definition":"The presence of one or more cysts of the ovary.","id":"HP:0000138","name":"Ovarian cyst","obsolete":false,"parents":["HP:0031065"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cystic abnormalities of the ovaries"},{"scope":"EXACT","text":"Cystic ovaries"},{"scope":"EXACT","text":"Ovarian cyst"},{"scope":"EXACT","text":"Ovarian cystic abnormality"}]} +{"alt_ids":["HP:0100824"],"definition":"The presence of prolapse of the uterus.","id":"HP:0000139","name":"Uterine prolapse","obsolete":false,"parents":["HP:0031105","HP:0100823"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sagging uterus"}]} +{"alt_ids":[],"definition":"An abnormality of the ovulation cycle.","id":"HP:0000140","name":"Abnormality of the menstrual cycle","obsolete":false,"parents":["HP:0030012"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the menstrual cycle"},{"scope":"RELATED","text":"Menstrual abnormalities"}]} +{"alt_ids":[],"definition":"Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.","id":"HP:0000141","name":"Amenorrhea","obsolete":false,"parents":["HP:0000140"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal absence of menstruation"}]} +{"alt_ids":["HP:0008650"],"definition":"Any structural abnormality of the vagina.","id":"HP:0000142","name":"Abnormal vagina morphology","obsolete":false,"parents":["HP:0000008"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vaginal malformation"}]} +{"alt_ids":[],"definition":"The presence of a fistula between the vagina and the rectum.","id":"HP:0000143","name":"Rectovaginal fistula","obsolete":false,"parents":["HP:0004320","HP:0100590"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal connection between rectum and vagina"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000144","name":"Decreased fertility","obsolete":false,"parents":["HP:0000080"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal fertility"},{"scope":"EXACT","text":"Decreased fertility"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000145","name":"Transverse vaginal septum","obsolete":false,"parents":["HP:0001153"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Transverse vaginal membrane"}]} +{"alt_ids":["HP:0008644","HP:0008657"],"definition":null,"id":"HP:0000147","name":"Polycystic ovaries","obsolete":false,"parents":["HP:0000138"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Polycystic ovary"},{"scope":"RELATED","text":"Polycystic ovary disease"},{"scope":"EXACT","text":"Sclerocystic ovaries"}]} +{"alt_ids":[],"definition":"Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.","id":"HP:0000148","name":"Vaginal atresia","obsolete":false,"parents":["HP:0000142","HP:0001827"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormally closed or absent vagina"}]} +{"alt_ids":[],"definition":"The presence of a gonadoblastoma of the ovary.","id":"HP:0000149","name":"Ovarian gonadoblastoma","obsolete":false,"parents":["HP:0000150","HP:0100615"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gonadoblastoma, female"}]} +{"alt_ids":["HP:0006745"],"definition":"The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.","id":"HP:0000150","name":"Gonadoblastoma","obsolete":false,"parents":["HP:0000812","HP:0100728"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital defect characterized by absence of the uterus. Aplasia refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue.","id":"HP:0000151","name":"Aplasia of the uterus","obsolete":false,"parents":["HP:0008684"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent uterus"},{"scope":"EXACT","text":"uterus absent"}]} +{"alt_ids":[],"definition":"An abnormality of head and neck.","id":"HP:0000152","name":"Abnormality of head or neck","obsolete":false,"parents":["HP:0000118"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of head or neck"},{"scope":"EXACT","text":"Head and neck abnormality"}]} +{"alt_ids":[],"definition":"An abnormality of the mouth.","id":"HP:0000153","name":"Abnormality of the mouth","obsolete":false,"parents":["HP:0000271"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal mouth"},{"scope":"EXACT","text":"Abnormality of the mouth"}]} +{"alt_ids":["HP:0000181","HP:0002052"],"definition":"Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).","id":"HP:0000154","name":"Wide mouth","obsolete":false,"parents":["HP:0011337"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad mouth"},{"scope":"EXACT","text":"Large mouth"},{"scope":"EXACT","text":"Large oral aperture"},{"scope":"EXACT","text":"Macrostomia"},{"scope":"EXACT","text":"Wide mouth"}]} +{"alt_ids":[],"definition":"Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.","id":"HP:0000155","name":"Oral ulcer","obsolete":false,"parents":["HP:0031446"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Mouth sore"},{"scope":"EXACT","text":"Mouth ulcer"},{"scope":"EXACT","text":"Oral mucosal ulceration"}]} +{"alt_ids":[],"definition":"Any abnormality of the tongue.","id":"HP:0000157","name":"Abnormality of the tongue","obsolete":false,"parents":["HP:0000153"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal tongue"},{"scope":"EXACT","text":"Abnormality of the tongue"},{"scope":"EXACT","text":"Glossal abnormality"},{"scope":"EXACT","text":"Lingual abnormality"},{"scope":"EXACT","text":"Tongue abnormality"}]} +{"alt_ids":["HP:0000203"],"definition":"Increased length and width of the tongue.","id":"HP:0000158","name":"Macroglossia","obsolete":false,"parents":["HP:0003712","HP:0030809"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormally large tongue"},{"scope":"BROAD","text":"Glossal hypertrophy"},{"scope":"EXACT","text":"Hyperplasia of the tongue"},{"scope":"EXACT","text":"Hypertrophy of the tongue"},{"scope":"EXACT","text":"Increased size of tongue"},{"scope":"EXACT","text":"Large tongue"},{"scope":"BROAD","text":"Lingual hyperplasia"},{"scope":"BROAD","text":"Lingual hypertrophy"},{"scope":"EXACT","text":"Tongue hypertrophy"}]} +{"alt_ids":[],"definition":"An abnormality of the lip.","id":"HP:0000159","name":"Abnormal lip morphology","obsolete":false,"parents":["HP:0000163"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal lip"},{"scope":"EXACT","text":"Abnormality of the lip"},{"scope":"NARROW","text":"Anomaly of lip"},{"scope":"NARROW","text":"Deformity of lip"},{"scope":"EXACT","text":"Lip abnormality"},{"scope":"NARROW","text":"Malformation of lip"}]} +{"alt_ids":["HP:0002261","HP:0009095","HP:0009096"],"definition":"Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).","id":"HP:0000160","name":"Narrow mouth","obsolete":false,"parents":["HP:0011337"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Microstomia"},{"scope":"EXACT","text":"Narrow mouth"},{"scope":"EXACT","text":"Small mouth"},{"scope":"EXACT","text":"Small oral aperture"}]} +{"alt_ids":[],"definition":"A type of cleft lip presenting as a midline (median) gap in the upper lip.","id":"HP:0000161","name":"Median cleft upper lip","obsolete":false,"parents":["HP:0000204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Central cleft upper lip"},{"scope":"EXACT","text":"Midline cleft lip"}]} +{"alt_ids":[],"definition":"Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.","id":"HP:0000162","name":"Glossoptosis","obsolete":false,"parents":["HP:0030809"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lingual retraction"},{"scope":"BROAD","text":"Posterior displacement of the tongue"},{"scope":"EXACT","text":"Retraction of the tongue"}]} +{"alt_ids":[],"definition":"Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.","id":"HP:0000163","name":"Abnormal oral cavity morphology","obsolete":false,"parents":["HP:0031816"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the oral cavity"}]} +{"alt_ids":["HP:0001567","HP:0006296","HP:0006348"],"definition":"Any abnormality of the teeth.","id":"HP:0000164","name":"Abnormality of the dentition","obsolete":false,"parents":["HP:0000153"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal dentition"},{"scope":"EXACT","text":"Abnormal teeth"},{"scope":"RELATED","text":"Abnormality of the teeth"},{"scope":"EXACT","text":"Dental abnormalities"},{"scope":"EXACT","text":"Dental abnormality"},{"scope":"EXACT","text":"Dental anomalies"},{"scope":"RELATED","text":"Dental problem"},{"scope":"RELATED","text":"Dental problems"},{"scope":"RELATED","text":"Tooth abnormalities"}]} +{"alt_ids":[],"definition":"Increased susceptibility to periodontitis, as manifested by severe periodontal infection with rapid alveolar bone loss, tooth mobility, and premature tooth exfoliation.","id":"HP:0000166","name":"Severe periodontitis","obsolete":false,"parents":["HP:0020341"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Early-onset aggressive periodontitis"},{"scope":"EXACT","text":"Prepubertal periodontitis"},{"scope":"EXACT","text":"Severe aggressive periodontitis"},{"scope":"BROAD","text":"Severe gum disease"},{"scope":"EXACT","text":"Severe periodontal disease"},{"scope":"EXACT","text":"Severe pyorrhea"}]} +{"alt_ids":[],"definition":"Any abnormality of the gingiva (also known as gums).","id":"HP:0000168","name":"Abnormal gingiva morphology","obsolete":false,"parents":["HP:0011830"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the gingiva"},{"scope":"EXACT","text":"Abnormality of the gums"},{"scope":"EXACT","text":"Gingival abnormality"}]} +{"alt_ids":[],"definition":"The presence of fibrosis of the gingiva.","id":"HP:0000169","name":"Gingival fibromatosis","obsolete":false,"parents":["HP:0000168","HP:0010614"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gingival fibroma"},{"scope":"EXACT","text":"Gingival fibrous nodules"},{"scope":"NARROW","text":"Hereditary gingival fibromatosis"},{"scope":"NARROW","text":"Idiopathic gingival hyperplasia"}]} +{"alt_ids":["HP:0000226","HP:0009079"],"definition":"Decreased length and width of the tongue.","id":"HP:0000171","name":"Microglossia","obsolete":false,"parents":["HP:0010295"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormally small tongue"},{"scope":"EXACT","text":"Decreased size of tongue"},{"scope":"EXACT","text":"Hypoglossia"},{"scope":"EXACT","text":"Hypoplasia of the tongue"},{"scope":"EXACT","text":"Hypoplastic tongue"},{"scope":"EXACT","text":"Lingual hypoplasia"},{"scope":"EXACT","text":"Rudimentary tongue"},{"scope":"EXACT","text":"Small tongue"},{"scope":"EXACT","text":"Underdevelopment of the tongue"}]} +{"alt_ids":[],"definition":"Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate.","id":"HP:0000172","name":"Abnormal uvula morphology","obsolete":false,"parents":["HP:0100736"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of palatine uvula"},{"scope":"EXACT","text":"Abnormality of the uvula"}]} +{"alt_ids":[],"definition":"Any abnormality of the palate, i.e., of roof of the mouth.","id":"HP:0000174","name":"Abnormal palate morphology","obsolete":false,"parents":["HP:0000163"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the palate"},{"scope":"EXACT","text":"Abnormality of the roof of the mouth"},{"scope":"EXACT","text":"Palatal anomaly"},{"scope":"EXACT","text":"Palate abnormality"}]} +{"alt_ids":["HP:0410004"],"definition":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","id":"HP:0000175","name":"Cleft palate","obsolete":false,"parents":["HP:0000174","HP:0000202"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cleft hard and soft palate"},{"scope":"EXACT","text":"Cleft of hard and soft palate"},{"scope":"EXACT","text":"Cleft of palate"},{"scope":"EXACT","text":"Cleft palate"},{"scope":"EXACT","text":"Cleft roof of mouth"},{"scope":"BROAD","text":"Cleft secondary palate"},{"scope":"EXACT","text":"Palatoschisis"},{"scope":"EXACT","text":"Uranostaphyloschisis"}]} +{"alt_ids":["HP:0000208","HP:0002746","HP:0009091"],"definition":"Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.","id":"HP:0000176","name":"Submucous cleft hard palate","obsolete":false,"parents":["HP:0410005","HP:5201016"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial thickness cleft hard palate"}]} +{"alt_ids":[],"definition":"An abnormality of the upper lip.","id":"HP:0000177","name":"Abnormal upper lip morphology","obsolete":false,"parents":["HP:0000159"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of upper lip"},{"scope":"NARROW","text":"Anomaly of the upper lip"},{"scope":"NARROW","text":"Deformity of the upper lip"},{"scope":"NARROW","text":"Malformation of the upper lip"}]} +{"alt_ids":[],"definition":"An abnormality of the lower lip.","id":"HP:0000178","name":"Abnormal lower lip morphology","obsolete":false,"parents":["HP:0000159"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of lower lip"},{"scope":"NARROW","text":"Anomaly of the lower lip"},{"scope":"NARROW","text":"Deformity of the lower lip"},{"scope":"NARROW","text":"Malformation of the lower lip"}]} +{"alt_ids":["HP:0000170"],"definition":"Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).","id":"HP:0000179","name":"Thick lower lip vermilion","obsolete":false,"parents":["HP:0000178","HP:0012471"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Full lower lip"},{"scope":"EXACT","text":"Full lower lip vermilion"},{"scope":"EXACT","text":"Increased height of lower lip vermilion"},{"scope":"EXACT","text":"Increased volume of lower lip"},{"scope":"EXACT","text":"Increased volume of lower lip vermilion"},{"scope":"EXACT","text":"Plump lower lip"},{"scope":"EXACT","text":"Prominent lower lip"},{"scope":"NARROW","text":"Prominent lower lip vermilion"},{"scope":"RELATED","text":"Thick lower lip"},{"scope":"NARROW","text":"Thick red part of the lower lip"},{"scope":"EXACT","text":"Thick vermilion border of lower lip"}]} +{"alt_ids":[],"definition":"Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour.","id":"HP:0000180","name":"Lobulated tongue","obsolete":false,"parents":["HP:0030809"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bumpy tongue"},{"scope":"EXACT","text":"Lingual lobules"},{"scope":"EXACT","text":"Lobulate tongue"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000182","name":"Movement abnormality of the tongue","obsolete":false,"parents":["HP:0030810"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of lingual movement"},{"scope":"EXACT","text":"Movement abnormality of the tongue"}]} +{"alt_ids":[],"definition":"Reduced strength of the tongue musculature, resulting in difficulties moving the tongue and possible accompanied by dysarthria or dysphagia.","id":"HP:0000183","name":"Tongue muscle weakness","obsolete":false,"parents":["HP:0000182"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency.","id":"HP:0000185","name":"Cleft soft palate","obsolete":false,"parents":["HP:0000175","HP:0100736"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cleft muscular palate"},{"scope":"EXACT","text":"Cleft of soft palate"},{"scope":"EXACT","text":"Cleft velum"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000187","name":"Broad alveolar ridges","obsolete":false,"parents":["HP:0006477"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad alveolar margins"},{"scope":"RELATED","text":"Broad alveolar processes of jaw"},{"scope":"RELATED","text":"Wide alveolar margins"},{"scope":"RELATED","text":"Wide alveolar processes of jaw"},{"scope":"RELATED","text":"Wide gum ridges"},{"scope":"EXACT","text":"Widened alveolar ridges"}]} +{"alt_ids":["HP:0200087"],"definition":"Decreased width of the upper lip.","id":"HP:0000188","name":"Short upper lip","obsolete":false,"parents":["HP:0000177"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased height of upper lip"},{"scope":"EXACT","text":"Decreased upper labial height"},{"scope":"EXACT","text":"Decreased upper labial length"},{"scope":"EXACT","text":"Decreased vertical length of upper lip"},{"scope":"EXACT","text":"Short upper lip"},{"scope":"EXACT","text":"Shortening of upper lip"},{"scope":"EXACT","text":"Vertical deficiency of upper lip"}]} +{"alt_ids":[],"definition":"Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).","id":"HP:0000189","name":"Narrow palate","obsolete":false,"parents":["HP:0000174"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased palatal width"},{"scope":"EXACT","text":"Decreased transverse dimension of palate"},{"scope":"EXACT","text":"Narrow palate"},{"scope":"EXACT","text":"Narrow roof of mouth"}]} +{"alt_ids":[],"definition":"An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity.","id":"HP:0000190","name":"Abnormal oral frenulum morphology","obsolete":false,"parents":["HP:0000163"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of frenum of tongue"},{"scope":"EXACT","text":"Abnormality of lingual frenum"},{"scope":"EXACT","text":"Abnormality of oral frenula"},{"scope":"EXACT","text":"Abnormality of oral frenum"}]} +{"alt_ids":[],"definition":"Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip.","id":"HP:0000191","name":"Accessory oral frenulum","obsolete":false,"parents":["HP:0000190"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Accessory oral frenum"},{"scope":"EXACT","text":"Extra oral frenulum"},{"scope":"EXACT","text":"Extra oral frenum"},{"scope":"EXACT","text":"Multiple oral frenula"},{"scope":"EXACT","text":"Supernumerary oral frenulum"},{"scope":"EXACT","text":"Supernumerary oral frenum"}]} +{"alt_ids":["HP:0000173","HP:0410032"],"definition":"Uvula separated into two parts most easily seen at the tip.","id":"HP:0000193","name":"Bifid uvula","obsolete":false,"parents":["HP:0000172"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bifid palatine uvula"},{"scope":"EXACT","text":"Cleft of uvula"},{"scope":"EXACT","text":"Cleft uvula"},{"scope":"EXACT","text":"Forked uvula"},{"scope":"EXACT","text":"Split uvula"},{"scope":"EXACT","text":"Uvula bifida"}]} +{"alt_ids":[],"definition":"A facial appearance characterized by a permanently or nearly permanently opened mouth.","id":"HP:0000194","name":"Open mouth","obsolete":false,"parents":["HP:0011338"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gaped jawed appearance"},{"scope":"EXACT","text":"Gaped mouthed appearance"},{"scope":"EXACT","text":"Open mouth"},{"scope":"RELATED","text":"Open mouth appearance"},{"scope":"EXACT","text":"Slack jawed appearance"}]} +{"alt_ids":[],"definition":"Depression located on the vermilion of the lower lip, usually paramedian.","id":"HP:0000196","name":"Lower lip pit","obsolete":false,"parents":["HP:0000178","HP:0100269"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear.","id":"HP:0000197","name":"Abnormal parotid gland morphology","obsolete":false,"parents":["HP:0010286"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of parotid gland"},{"scope":"EXACT","text":"Anomaly of the parotid gland"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000198","name":"Absence of Stensen duct","obsolete":false,"parents":["HP:0000197"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of parotid duct"},{"scope":"EXACT","text":"Absent stensen duct"},{"scope":"NARROW","text":"Agenesis of parotid duct"},{"scope":"NARROW","text":"Agenesis of stensen duct"},{"scope":"EXACT","text":"Failure of development of parotid duct"},{"scope":"EXACT","text":"Failure of development of stensen duct"},{"scope":"EXACT","text":"Missing parotid duct"},{"scope":"EXACT","text":"Missing stensen duct"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000199","name":"Tongue nodules","obsolete":false,"parents":["HP:0030809"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lingual nodules"}]} +{"alt_ids":[],"definition":"The presence of an abnormally short lingual frenulum.","id":"HP:0000200","name":"Short lingual frenulum","obsolete":false,"parents":["HP:0000190"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deficiency of lingual frenulum"},{"scope":"BROAD","text":"Hypoplasia of lingual frenulum"},{"scope":"BROAD","text":"Hypoplasia of lingual frenum"},{"scope":"BROAD","text":"Hypoplasia of tongue frenulum"},{"scope":"BROAD","text":"Hypoplasia of tongue frenum"},{"scope":"EXACT","text":"Short lingual frenum"},{"scope":"EXACT","text":"Short tongue frenulum"},{"scope":"EXACT","text":"Short tongue frenum"},{"scope":"EXACT","text":"Tight lingual frenulum"}]} +{"alt_ids":[],"definition":"Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.","id":"HP:0000201","name":"Pierre-Robin sequence","obsolete":false,"parents":["HP:0031816"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pierre Robin sequence"},{"scope":"EXACT","text":"Pierre-robin anomaly"},{"scope":"EXACT","text":"Pierre-robin deformity"},{"scope":"EXACT","text":"Pierre-robin malformation"},{"scope":"EXACT","text":"Robin sequence"}]} +{"alt_ids":[],"definition":"The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.","id":"HP:0000202","name":"Orofacial cleft","obsolete":false,"parents":["HP:0000163","HP:5201015"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Cleft lip, cleft palate"},{"scope":"RELATED","text":"Cleft lip/palate"},{"scope":"EXACT","text":"Cleft of the mouth"},{"scope":"EXACT","text":"Oral cleft"},{"scope":"EXACT","text":"Oral clefting"}]} +{"alt_ids":[],"definition":"A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.","id":"HP:0000204","name":"Cleft upper lip","obsolete":false,"parents":["HP:0000177","HP:0410030"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cheiloschisis of upper lip"},{"scope":"RELATED","text":"Cleft of upper lip"},{"scope":"EXACT","text":"Cleft upper lip"},{"scope":"EXACT","text":"Harelip"}]} +{"alt_ids":[],"definition":"An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance.","id":"HP:0000205","name":"Pursed lips","obsolete":false,"parents":["HP:0011338"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pursed lips"},{"scope":"EXACT","text":"Tightly closed lips"}]} +{"alt_ids":[],"definition":"Inflammation of the tongue.","id":"HP:0000206","name":"Glossitis","obsolete":false,"parents":["HP:0030809"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inflammation of the tongue"},{"scope":"EXACT","text":"Lingual inflammation"},{"scope":"EXACT","text":"Smooth swollen tongue"}]} +{"alt_ids":[],"definition":"The presence of a triangular form of the mouth.","id":"HP:0000207","name":"Triangular mouth","obsolete":false,"parents":["HP:0011338"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular mouth"},{"scope":"EXACT","text":"Triangular shaped mouth"},{"scope":"EXACT","text":"Triangular shaped oral aperture"}]} +{"alt_ids":[],"definition":"Limitation in the ability to open the mouth.","id":"HP:0000211","name":"Trismus","obsolete":false,"parents":["HP:0000277"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Decrease in jaw mobility"},{"scope":"BROAD","text":"Decrease in jaw movement"},{"scope":"BROAD","text":"Decrease in jaw opening"},{"scope":"BROAD","text":"Decrease in mandibular mobility"},{"scope":"BROAD","text":"Decrease in mandibular movement"},{"scope":"BROAD","text":"Decrease in mandibular opening"},{"scope":"BROAD","text":"Limited jaw mobility"},{"scope":"BROAD","text":"Limited jaw movement"},{"scope":"BROAD","text":"Limited jaw opening"},{"scope":"BROAD","text":"Limited mandibular mobility"},{"scope":"BROAD","text":"Limited mandibular opening"},{"scope":"BROAD","text":"Limited mouth opening"},{"scope":"EXACT","text":"Lockjaw"},{"scope":"EXACT","text":"Pain of muscles of mastication"}]} +{"alt_ids":["HP:0000195"],"definition":"Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.","id":"HP:0000212","name":"Gingival overgrowth","obsolete":false,"parents":["HP:0000168"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gingival enlargement"},{"scope":"EXACT","text":"Gingival hyperplasia"},{"scope":"EXACT","text":"Gum enlargement"},{"scope":"EXACT","text":"Gum hypertrophy"},{"scope":"EXACT","text":"Hypertrophic gingivitis"},{"scope":"RELATED","text":"Oral soft tissue hyperplasia"}]} +{"alt_ids":[],"definition":"Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips.","id":"HP:0000214","name":"Lip telangiectasia","obsolete":false,"parents":["HP:0000159","HP:0000228"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Angioectasias of the lip"},{"scope":"RELATED","text":"Labial angioectasias"},{"scope":"EXACT","text":"Labial telangiectasia"},{"scope":"EXACT","text":"Lip telangiectases"},{"scope":"RELATED","text":"Spider veins of the lip"},{"scope":"EXACT","text":"Telangiectasia of the lips"}]} +{"alt_ids":["HP:0000231"],"definition":"Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).","id":"HP:0000215","name":"Thick upper lip vermilion","obsolete":false,"parents":["HP:0011339","HP:0012471"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Full upper lip"},{"scope":"EXACT","text":"Full upper lip vermilion"},{"scope":"EXACT","text":"Increased height of upper lip vermilion"},{"scope":"EXACT","text":"Increased volume of upper lip"},{"scope":"EXACT","text":"Increased volume of upper lip vermilion"},{"scope":"EXACT","text":"Plump upper lip"},{"scope":"EXACT","text":"Prominent upper lip"},{"scope":"NARROW","text":"Prominent upper lip vermilion"},{"scope":"NARROW","text":"Thick red part of the upper lip"},{"scope":"EXACT","text":"Thick upper lip"},{"scope":"EXACT","text":"Thick vermilion border of upper lip"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000216","name":"Broad secondary alveolar ridge","obsolete":false,"parents":["HP:0000187"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Secondary alveolar ridges"}]} +{"alt_ids":["HP:0002709","HP:0100756"],"definition":"Dryness of the mouth due to salivary gland dysfunction.","id":"HP:0000217","name":"Xerostomia","obsolete":false,"parents":["HP:0100755"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Decreased salivary flow"},{"scope":"EXACT","text":"Dry mouth"},{"scope":"EXACT","text":"Dry mouth syndrome"},{"scope":"EXACT","text":"Reduced salivation"}]} +{"alt_ids":["HP:0000156","HP:0009080","HP:0009082","HP:0009097"],"definition":"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).","id":"HP:0000218","name":"High palate","obsolete":false,"parents":["HP:0000174"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated palate"},{"scope":"EXACT","text":"High arched palate"},{"scope":"EXACT","text":"High palate"},{"scope":"EXACT","text":"High, arched palate"},{"scope":"EXACT","text":"High-arched palate"},{"scope":"EXACT","text":"Increased palatal height"},{"scope":"RELATED","text":"Ogival palate"},{"scope":"EXACT","text":"Palate high-arched"},{"scope":"EXACT","text":"Palate, high-arched"}]} +{"alt_ids":["HP:0200062","HP:0200086"],"definition":"Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).","id":"HP:0000219","name":"Thin upper lip vermilion","obsolete":false,"parents":["HP:0000233","HP:0011339"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased height of upper lip vermilion"},{"scope":"EXACT","text":"Decreased volume of upper lip"},{"scope":"EXACT","text":"Decreased volume of upper lip vermilion"},{"scope":"NARROW","text":"Thin red part of the upper lip"},{"scope":"EXACT","text":"Thin upper lip"},{"scope":"RELATED","text":"Thin upper lips"},{"scope":"EXACT","text":"Thin vermilion border of upper lip"}]} +{"alt_ids":[],"definition":"Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.","id":"HP:0000220","name":"Velopharyngeal insufficiency","obsolete":false,"parents":["HP:0100736"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Velopharyngeal dysfunction"},{"scope":"EXACT","text":"Velopharyngeal incompetence"}]} +{"alt_ids":[],"definition":"Accentuation of the grooves on the dorsal surface of the tongue.","id":"HP:0000221","name":"Furrowed tongue","obsolete":false,"parents":["HP:0030809"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fissured tongue"},{"scope":"EXACT","text":"Grooved tongue"},{"scope":"EXACT","text":"Lingua plicata"},{"scope":"EXACT","text":"Lingual furrow"},{"scope":"EXACT","text":"Plicated tongue"},{"scope":"EXACT","text":"Prominent tongue grooves"},{"scope":"EXACT","text":"Scrotal tongue"}]} +{"alt_ids":["HP:0007539"],"definition":"Hyperkeratosis of the gingiva.","id":"HP:0000222","name":"Gingival hyperkeratosis","obsolete":false,"parents":["HP:0000168","HP:0000962"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperkeratosis, gingival"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000223","name":"Abnormality of taste sensation","obsolete":false,"parents":["HP:0012638","HP:0030810"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of taste sensation"}]} +{"alt_ids":[],"definition":"A decreased ability to perceive flavor.","id":"HP:0000224","name":"Hypogeusia","obsolete":false,"parents":["HP:0000223"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased taste"},{"scope":"EXACT","text":"Decreased taste sensation"}]} +{"alt_ids":["HP:0000167"],"definition":"Hemorrhage affecting the gingiva.","id":"HP:0000225","name":"Gingival bleeding","obsolete":false,"parents":["HP:0000168","HP:0001892"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bleeding gums"},{"scope":"EXACT","text":"Gingival haemorrhage"},{"scope":"EXACT","text":"Gingival hemorrhage"},{"scope":"EXACT","text":"Gingivorrhagia"}]} +{"alt_ids":[],"definition":"Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue.","id":"HP:0000227","name":"Tongue telangiectasia","obsolete":false,"parents":["HP:0000228","HP:0030809"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Angioectasias of the tongue"},{"scope":"RELATED","text":"Lingual angioectasias"},{"scope":"EXACT","text":"Lingual telangiectasia"},{"scope":"RELATED","text":"Spider veins of the tongue"}]} +{"alt_ids":[],"definition":"Presence of telangiectases in the oral cavity.","id":"HP:0000228","name":"Oral cavity telangiectasia","obsolete":false,"parents":["HP:0011830","HP:0100579"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Angioectasias of the mouth"},{"scope":"RELATED","text":"Angioectasias of the oral cavity"},{"scope":"EXACT","text":"Oral cavity teleangiectasia"},{"scope":"RELATED","text":"Spider veins of the mouth"},{"scope":"RELATED","text":"Spider veins of the oral cavity"}]} +{"alt_ids":[],"definition":"Inflammation of the gingiva","id":"HP:0000230","name":"Gingivitis","obsolete":false,"parents":["HP:0000168","HP:5210280"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gingival inflammation"},{"scope":"EXACT","text":"Inflamed gums"},{"scope":"EXACT","text":"Red and swollen gums"}]} +{"alt_ids":["HP:0000184","HP:0002264","HP:0002712","HP:0004665","HP:0009086","HP:0009093"],"definition":"An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.","id":"HP:0000232","name":"Everted lower lip vermilion","obsolete":false,"parents":["HP:0000178","HP:0012472"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Drooping lower lip"},{"scope":"EXACT","text":"Eclabium of lower lip"},{"scope":"EXACT","text":"Everted lower lip"},{"scope":"EXACT","text":"Everted prominent lower lip"},{"scope":"EXACT","text":"Outward turned lower lip"},{"scope":"RELATED","text":"Protruding lower lip"}]} +{"alt_ids":["HP:0000213"],"definition":"Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).","id":"HP:0000233","name":"Thin vermilion border","obsolete":false,"parents":["HP:0000159"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased volume of lip"},{"scope":"EXACT","text":"Decreased volume of lip vermillion"},{"scope":"EXACT","text":"Thin lips"},{"scope":"RELATED","text":"Thin vermilion borders"},{"scope":"EXACT","text":"Thin vermillion"}]} +{"alt_ids":[],"definition":"An abnormality of the head.","id":"HP:0000234","name":"Abnormality of the head","obsolete":false,"parents":["HP:0000152"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal head"},{"scope":"EXACT","text":"Abnormality of the head"},{"scope":"EXACT","text":"Head abnormality"}]} +{"alt_ids":[],"definition":"Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments).","id":"HP:0000235","name":"Abnormal cranial suture/fontanelle morphology","obsolete":false,"parents":["HP:0000929"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the fontanelles or cranial sutures"}]} +{"alt_ids":[],"definition":"An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures.","id":"HP:0000236","name":"Abnormal anterior fontanelle morphology","obsolete":false,"parents":["HP:0011328"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the anterior fontanelle"},{"scope":"EXACT","text":"Abnormality of the forehead soft spot"}]} +{"alt_ids":[],"definition":"Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms.","id":"HP:0000237","name":"Small anterior fontanelle","obsolete":false,"parents":["HP:0000236"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small anterior fontanel"},{"scope":"EXACT","text":"Small forehead fontanel"}]} +{"alt_ids":["HP:0007189","HP:0008503"],"definition":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","id":"HP:0000238","name":"Hydrocephalus","obsolete":false,"parents":["HP:0002118","HP:0002921"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hydrocephaly"},{"scope":"EXACT","text":"Nonsyndromal hydrocephalus"},{"scope":"EXACT","text":"Too much cerebrospinal fluid in the brain"}]} +{"alt_ids":["HP:0004473"],"definition":"In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.","id":"HP:0000239","name":"Large fontanelles","obsolete":false,"parents":["HP:0011328"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged fontanelles"},{"scope":"NARROW","text":"Large bregma sutures"},{"scope":"EXACT","text":"Large fontanel"},{"scope":"EXACT","text":"Large fontanelle"},{"scope":"EXACT","text":"Large fontanels"},{"scope":"NARROW","text":"Large, late-closing fontanelle"},{"scope":"EXACT","text":"Persistent wide fontanel"},{"scope":"NARROW","text":"Wide bregma sutures"},{"scope":"EXACT","text":"Wide fontanelles"}]} +{"alt_ids":[],"definition":"Any abnormality of the size of the skull.","id":"HP:0000240","name":"Abnormality of skull size","obsolete":false,"parents":["HP:0000929"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of cranium size"},{"scope":"BROAD","text":"Abnormality of head size"},{"scope":"EXACT","text":"Abnormality of skull size"}]} +{"alt_ids":["HP:0004641"],"definition":"Parietal bossing is a marked prominence in the parietal region.","id":"HP:0000242","name":"Parietal bossing","obsolete":false,"parents":["HP:0002696"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Biparietal bossing"},{"scope":"EXACT","text":"Bossing of parietal bone"}]} +{"alt_ids":[],"definition":"Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.","id":"HP:0000243","name":"Trigonocephaly","obsolete":false,"parents":["HP:0002683"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular cranium shape"},{"scope":"BROAD","text":"Triangular head shape"},{"scope":"EXACT","text":"Triangular skull shape"},{"scope":"EXACT","text":"Wedge shaped cranium"},{"scope":"BROAD","text":"Wedge shaped head"},{"scope":"EXACT","text":"Wedge shaped skull"}]} +{"alt_ids":[],"definition":"Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region.","id":"HP:0000244","name":"Brachyturricephaly","obsolete":false,"parents":["HP:0000248","HP:0000262"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brachy-turricephaly"},{"scope":"EXACT","text":"High, prominent forehead"},{"scope":"EXACT","text":"Turribrachycephaly"}]} +{"alt_ids":[],"definition":"Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses.","id":"HP:0000245","name":"Abnormal paranasal sinus morphology","obsolete":false,"parents":["HP:0002087","HP:0011821"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormality of the paranasal sinuses"},{"scope":"BROAD","text":"Abnormality of the sinuses"},{"scope":"EXACT","text":"Abnormality of the sinuses of the head"}]} +{"alt_ids":[],"definition":"Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.","id":"HP:0000246","name":"Sinusitis","obsolete":false,"parents":["HP:0000245","HP:0012649","HP:5210121"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Sinus disease"},{"scope":"BROAD","text":"Sinus infection"},{"scope":"EXACT","text":"Sinus inflammation"}]} +{"alt_ids":["HP:0002258","HP:0004479","HP:0008512"],"definition":"An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.","id":"HP:0000248","name":"Brachycephaly","obsolete":false,"parents":["HP:0002683"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Broad cranium shape"},{"scope":"BROAD","text":"Broad head shape"},{"scope":"BROAD","text":"Broad skull shape"},{"scope":"EXACT","text":"Short and broad skull"},{"scope":"BROAD","text":"Wide cranium shape"},{"scope":"BROAD","text":"Wide head shape"},{"scope":"BROAD","text":"Wide skull shape"}]} +{"alt_ids":[],"definition":"An abnormal increase of density of the bones making up the calvaria.","id":"HP:0000250","name":"Dense calvaria","obsolete":false,"parents":["HP:0002683","HP:0004330"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dense skull cap"}]} +{"alt_ids":["HP:0001366","HP:0005485","HP:0005489","HP:0005497"],"definition":"Head circumference below 2 standard deviations below the mean for age and gender.","id":"HP:0000252","name":"Microcephaly","obsolete":false,"parents":["HP:0007364","HP:0040195"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormally small cranium"},{"scope":"BROAD","text":"Abnormally small head"},{"scope":"EXACT","text":"Abnormally small skull"},{"scope":"EXACT","text":"Decreased circumference of cranium"},{"scope":"EXACT","text":"Decreased size of cranium"},{"scope":"BROAD","text":"Decreased size of head"},{"scope":"EXACT","text":"Decreased size of skull"},{"scope":"EXACT","text":"Reduced head circumference"},{"scope":"BROAD","text":"Small head"},{"scope":"EXACT","text":"Small head circumference"},{"scope":"BROAD","text":"Small skull"},{"scope":"NARROW","text":"small calvarium"},{"scope":"EXACT","text":"small cranium"}]} +{"alt_ids":[],"definition":"Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.","id":"HP:0000253","name":"Progressive microcephaly","obsolete":false,"parents":["HP:0005484"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Microcephaly, postnatal, progressive"},{"scope":"EXACT","text":"Microcephaly, progressive"},{"scope":"EXACT","text":"Progressively abnormally small cranium"},{"scope":"EXACT","text":"Progressively abnormally small skull"}]} +{"alt_ids":[],"definition":"An acute form of sinusitis.","id":"HP:0000255","name":"Acute sinusitis","obsolete":false,"parents":["HP:0000246"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005491","HP:0005496","HP:0200135"],"definition":"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.","id":"HP:0000256","name":"Macrocephaly","obsolete":false,"parents":["HP:0040194"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Big calvaria"},{"scope":"BROAD","text":"Big cranium"},{"scope":"BROAD","text":"Big head"},{"scope":"BROAD","text":"Big skull"},{"scope":"EXACT","text":"Increased size of cranium"},{"scope":"BROAD","text":"Increased size of head"},{"scope":"EXACT","text":"Increased size of skull"},{"scope":"BROAD","text":"Large calvaria"},{"scope":"BROAD","text":"Large cranium"},{"scope":"EXACT","text":"Large head"},{"scope":"EXACT","text":"Large head circumference"},{"scope":"BROAD","text":"Large skull"},{"scope":"EXACT","text":"Macrocephalus"},{"scope":"EXACT","text":"Macrocrania"},{"scope":"EXACT","text":"Megacephaly"}]} +{"alt_ids":[],"definition":"Enlargement of the anterior fontanelle with respect to age-dependent norms.","id":"HP:0000260","name":"Wide anterior fontanel","obsolete":false,"parents":["HP:0000236","HP:0000239"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Large anterior fontanel"},{"scope":"EXACT","text":"Large anterior fontanelle"},{"scope":"RELATED","text":"Large anterior fontanels"},{"scope":"EXACT","text":"Large open anterior fontanel"},{"scope":"EXACT","text":"Large open anterior fontanelle"},{"scope":"EXACT","text":"Wide anterior fontanelle"},{"scope":"EXACT","text":"Wide open anterior fontanelle"},{"scope":"EXACT","text":"Wider-than-typical soft spot of skull"}]} +{"alt_ids":["HP:0001356"],"definition":"Tall head relative to width and length.","id":"HP:0000262","name":"Turricephaly","obsolete":false,"parents":["HP:0002683"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tall shaped cranium"},{"scope":"BROAD","text":"Tall shaped head"},{"scope":"EXACT","text":"Tall shaped skull"},{"scope":"EXACT","text":"Tower cranium shape"},{"scope":"EXACT","text":"Tower skull shape"},{"scope":"EXACT","text":"Turricephalus"}]} +{"alt_ids":[],"definition":"Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.","id":"HP:0000263","name":"Oxycephaly","obsolete":false,"parents":["HP:0000262"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Acrocephaly"}]} +{"alt_ids":[],"definition":"An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone.","id":"HP:0000264","name":"Abnormal mastoid morphology","obsolete":false,"parents":["HP:0000929"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of mastoid process of temporal bone"},{"scope":"EXACT","text":"Abnormality of the mastoid"}]} +{"alt_ids":[],"definition":"Infection of the mastoid air cells, arising as a complication of otitis media or occurring in the context of unusual susceptibility to infection.","id":"HP:0000265","name":"Mastoiditis","obsolete":false,"parents":["HP:0000264"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Asymmetry of the bones of the skull.","id":"HP:0000267","name":"Cranial asymmetry","obsolete":false,"parents":["HP:0002683"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormality of cranial vault shape"},{"scope":"RELATED","text":"Abnormality of cranium shape"},{"scope":"RELATED","text":"Abnormality of head shape"},{"scope":"EXACT","text":"Asymmetry of cranium"},{"scope":"BROAD","text":"Asymmetry of head"},{"scope":"EXACT","text":"Cranial vault asymmetry"},{"scope":"RELATED","text":"Malformation of cranial vault shape"},{"scope":"RELATED","text":"Malformation of cranium shape"},{"scope":"RELATED","text":"Malformation of head shape"},{"scope":"BROAD","text":"Uneven head shape"}]} +{"alt_ids":["HP:0000258","HP:0005440"],"definition":"An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.","id":"HP:0000268","name":"Dolichocephaly","obsolete":false,"parents":["HP:0002683"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Large dolichocephalic skull"},{"scope":"EXACT","text":"Long, narrow head"},{"scope":"BROAD","text":"Narrow cranium shape"},{"scope":"BROAD","text":"Narrow head shape"},{"scope":"BROAD","text":"Narrow skull shape"},{"scope":"EXACT","text":"Tall and narrow skull"},{"scope":"BROAD","text":"Turridolichocephaly"}]} +{"alt_ids":["HP:0004489"],"definition":"Increased convexity of the occiput (posterior part of the skull).","id":"HP:0000269","name":"Prominent occiput","obsolete":false,"parents":["HP:0011217"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Prominent back of the head"},{"scope":"EXACT","text":"Prominent back of the skull"},{"scope":"EXACT","text":"Prominent posterior cranium"},{"scope":"BROAD","text":"Prominent posterior head"},{"scope":"EXACT","text":"Prominent posterior skull"},{"scope":"BROAD","text":"Protruding back of the head"},{"scope":"EXACT","text":"Protruding occiput"}]} +{"alt_ids":["HP:0002704","HP:0003794"],"definition":"Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.","id":"HP:0000270","name":"Delayed cranial suture closure","obsolete":false,"parents":["HP:0011329"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad late closing cranial sutures"},{"scope":"EXACT","text":"Delayed closure of fontanel"},{"scope":"EXACT","text":"Delayed closure of fontanelles"},{"scope":"EXACT","text":"Delayed closure of fontanels"},{"scope":"EXACT","text":"Delayed closure of the fontanelles"},{"scope":"EXACT","text":"Delayed cranial suture closure"},{"scope":"EXACT","text":"Delayed fontanel closure"},{"scope":"EXACT","text":"Delayed fontanelle closure"},{"scope":"EXACT","text":"Late closing fontanelles"},{"scope":"EXACT","text":"Late closure of fontanelle"},{"scope":"EXACT","text":"Late-closing fontanelle"},{"scope":"EXACT","text":"Open sutures"}]} +{"alt_ids":[],"definition":"An abnormality of the face.","id":"HP:0000271","name":"Abnormality of the face","obsolete":false,"parents":["HP:0000234"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal face"},{"scope":"BROAD","text":"Abnormality of the countenance"},{"scope":"EXACT","text":"Abnormality of the face"},{"scope":"BROAD","text":"Abnormality of the physiognomy"},{"scope":"BROAD","text":"Abnormality of the visage"},{"scope":"RELATED","text":"Anomaly of face"},{"scope":"RELATED","text":"Anomaly of the face"},{"scope":"RELATED","text":"Disorder of face"},{"scope":"RELATED","text":"Disorder of the face"},{"scope":"EXACT","text":"Facial abnormality"},{"scope":"RELATED","text":"Facial anomaly"}]} +{"alt_ids":["HP:0000312","HP:0000332","HP:0004642","HP:0004658","HP:0004671","HP:0005319","HP:0005443","HP:0005455","HP:0100846"],"definition":"Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.","id":"HP:0000272","name":"Malar flattening","obsolete":false,"parents":["HP:0010668"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased size of malar bone"},{"scope":"EXACT","text":"Depressed malar region"},{"scope":"EXACT","text":"Flat cheekbone"},{"scope":"RELATED","text":"Hypotrophic malar bone"},{"scope":"EXACT","text":"Malar hypoplasia"},{"scope":"EXACT","text":"Underdevelopment of malar bone"},{"scope":"EXACT","text":"Zygomatic flattening"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000273","name":"Facial grimacing","obsolete":false,"parents":["HP:0005324"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Facial grimacing"}]} +{"alt_ids":[],"definition":"A face that is short and narrow.","id":"HP:0000274","name":"Small face","obsolete":false,"parents":["HP:0001999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Facial hypoplasia"},{"scope":"EXACT","text":"Hypoplasia of face"},{"scope":"EXACT","text":"Microface"},{"scope":"EXACT","text":"Microfacies"},{"scope":"EXACT","text":"Short and narrow face"},{"scope":"EXACT","text":"Small face"},{"scope":"EXACT","text":"Small facies"}]} +{"alt_ids":["HP:0000318"],"definition":"Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).","id":"HP:0000275","name":"Narrow face","obsolete":false,"parents":["HP:0000274"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased breadth of face"},{"scope":"EXACT","text":"Decreased horizontal dimension of face"},{"scope":"EXACT","text":"Decreased transverse dimension of face"},{"scope":"EXACT","text":"Decreased width of face"},{"scope":"EXACT","text":"Horizontal deficiency of face"},{"scope":"EXACT","text":"Horizontal hypoplasia of face"},{"scope":"EXACT","text":"Horizontal insufficiency of face"},{"scope":"EXACT","text":"Narrow face"},{"scope":"EXACT","text":"Narrow facies"},{"scope":"RELATED","text":"Thin face"},{"scope":"EXACT","text":"Thin facies"},{"scope":"EXACT","text":"Transverse deficiency of face"},{"scope":"EXACT","text":"Transverse hypoplasia of face"},{"scope":"EXACT","text":"Transverse insufficiency of face"}]} +{"alt_ids":["HP:0000334"],"definition":"Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).","id":"HP:0000276","name":"Long face","obsolete":false,"parents":["HP:0100729"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elongation of face"},{"scope":"EXACT","text":"Increased height of face"},{"scope":"EXACT","text":"Increased length of face"},{"scope":"EXACT","text":"Increased vertical dimension of face"},{"scope":"EXACT","text":"Long face"},{"scope":"EXACT","text":"Long facies"},{"scope":"EXACT","text":"Vertical Facial Excess"},{"scope":"EXACT","text":"Vertical elongation of face"},{"scope":"EXACT","text":"Vertical enlargement of face"},{"scope":"EXACT","text":"Vertical excess of face"},{"scope":"EXACT","text":"Vertical hyperplasia of face"},{"scope":"EXACT","text":"Vertical overgrowth of face"}]} +{"alt_ids":["HP:0000209"],"definition":"Any abnormality of the mandible, the bone of the lower jaw.","id":"HP:0000277","name":"Abnormal mandible morphology","obsolete":false,"parents":["HP:0030791"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the lower jaw bone"},{"scope":"EXACT","text":"Abnormality of the mandible"},{"scope":"NARROW","text":"Anomaly of the mandible"},{"scope":"NARROW","text":"Deformity of the lower jaw bone"},{"scope":"NARROW","text":"Deformity of the mandible"},{"scope":"NARROW","text":"Malformation of the lower jaw bone"},{"scope":"NARROW","text":"Malformation of the mandible"}]} +{"alt_ids":["HP:0002053","HP:0002954"],"definition":"An abnormality in which the mandible is mislocalised posteriorly.","id":"HP:0000278","name":"Retrognathia","obsolete":false,"parents":["HP:0000277"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lower jaw retrognathia"},{"scope":"EXACT","text":"Lower jaw retrusion"},{"scope":"EXACT","text":"Mandibular retrognathia"},{"scope":"EXACT","text":"Mandibular retrusion"},{"scope":"EXACT","text":"Receding chin"},{"scope":"EXACT","text":"Receding lower jaw"},{"scope":"EXACT","text":"Receding mandible"},{"scope":"NARROW","text":"Retrogenia"},{"scope":"EXACT","text":"Retrognathia of lower jaw"},{"scope":"EXACT","text":"Retrusion of lower jaw"},{"scope":"EXACT","text":"Weak chin"},{"scope":"EXACT","text":"Weak jaw"}]} +{"alt_ids":["HP:0000281","HP:0004640"],"definition":"Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.","id":"HP:0000280","name":"Coarse facial features","obsolete":false,"parents":["HP:0001999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Coarse face"},{"scope":"EXACT","text":"Coarse facial appearance"},{"scope":"EXACT","text":"Coarse facial features"},{"scope":"EXACT","text":"Coarse facies"},{"scope":"NARROW","text":"Rounded and heavy facial features"},{"scope":"NARROW","text":"Thickened facial skin with coarse facial features"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000282","name":"Facial edema","obsolete":false,"parents":["HP:0000969","HP:0011799"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Facial oedema"},{"scope":"EXACT","text":"Facial puffiness"},{"scope":"EXACT","text":"Facial swelling"},{"scope":"EXACT","text":"Swelling of the face"}]} +{"alt_ids":[],"definition":"Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective).","id":"HP:0000283","name":"Broad face","obsolete":false,"parents":["HP:0100729"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad face"},{"scope":"EXACT","text":"Broad facies"},{"scope":"EXACT","text":"Horizontal excess of face"},{"scope":"EXACT","text":"Horizontal hyperplasia of face"},{"scope":"EXACT","text":"Increased breadth of face"},{"scope":"EXACT","text":"Increased horizontal dimension of face"},{"scope":"EXACT","text":"Increased transverse dimension of face"},{"scope":"EXACT","text":"Increased width of face"},{"scope":"EXACT","text":"Transverse excess of face"},{"scope":"EXACT","text":"Transverse hyperplasia of face"},{"scope":"EXACT","text":"Wide face"},{"scope":"EXACT","text":"Wide facies"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000284","name":"obsolete Abnormality of the ocular region","obsolete":true,"parents":[],"replaced_by":["HP:0000315"],"synonyms":[]} +{"alt_ids":["HP:0000624","HP:0007930"],"definition":"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.","id":"HP:0000286","name":"Epicanthus","obsolete":false,"parents":["HP:0000492"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Epicanthal fold"},{"scope":"EXACT","text":"Epicanthal folds"},{"scope":"EXACT","text":"Epicanthic folds"},{"scope":"EXACT","text":"Eye folds"},{"scope":"EXACT","text":"Palpebronasal fold"},{"scope":"EXACT","text":"Plica palpebronasalis"},{"scope":"EXACT","text":"Prominent eye folds"}]} +{"alt_ids":[],"definition":"An increased amount of subcutaneous fat tissue in the face.","id":"HP:0000287","name":"Increased facial adipose tissue","obsolete":false,"parents":["HP:0000291"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Facial fat hyperplasia"},{"scope":"NARROW","text":"Facial fat hypertrophy"},{"scope":"NARROW","text":"Hyperplasia of facial adipose tissue"},{"scope":"NARROW","text":"Hypertrophy of facial adipose tissue"},{"scope":"EXACT","text":"Increased amount of facial adipose tissue"},{"scope":"EXACT","text":"Increased amount of facial fat"},{"scope":"EXACT","text":"Increased volume of facial adipose tissue"}]} +{"alt_ids":["HP:0011216"],"definition":"An abnormality of the philtrum.","id":"HP:0000288","name":"Abnormality of the philtrum","obsolete":false,"parents":["HP:0000177"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal philtrum"},{"scope":"EXACT","text":"Abnormality of the infranasal depression"},{"scope":"EXACT","text":"Abnormality of the paralabial region"}]} +{"alt_ids":[],"definition":"Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum.","id":"HP:0000289","name":"Broad philtrum","obsolete":false,"parents":["HP:0000288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased breadth of philtrum"},{"scope":"EXACT","text":"Increased horizontal dimension of philtrum"},{"scope":"EXACT","text":"Increased transverse dimension of philtrum"},{"scope":"EXACT","text":"Increased width of philtrum"},{"scope":"EXACT","text":"Wide philtrum"}]} +{"alt_ids":[],"definition":"An anomaly of the forehead.","id":"HP:0000290","name":"Abnormal forehead morphology","obsolete":false,"parents":["HP:0000271"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the forehead"},{"scope":"EXACT","text":"Abnormality of the frontal region of the face"},{"scope":"NARROW","text":"Anomaly of the forehead"},{"scope":"NARROW","text":"Deformity of the forehead"},{"scope":"NARROW","text":"Malformation of the forehead"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000291","name":"Abnormality of facial adipose tissue","obsolete":false,"parents":["HP:0009124","HP:0011799"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of facial fat"},{"scope":"NARROW","text":"Deformity of facial adipose tissue"},{"scope":"NARROW","text":"Malformation of facial adipose tissue"}]} +{"alt_ids":[],"definition":"Loss of normal subcutaneous fat tissue in the face.","id":"HP:0000292","name":"Loss of facial adipose tissue","obsolete":false,"parents":["HP:0000291","HP:0008887"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased amount of facial adipose tissue"},{"scope":"EXACT","text":"Decreased amount of facial fat"},{"scope":"EXACT","text":"Decreased volume of facial adipose tissue"},{"scope":"EXACT","text":"Loss of facial fat"},{"scope":"EXACT","text":"Loss of facial subcutaneous adipose tissue"},{"scope":"EXACT","text":"Loss of subcutaneous adipose tissue from face"}]} +{"alt_ids":["HP:0002262","HP:0004427"],"definition":"Increased prominence or roundness of soft tissues between zygomata and mandible.","id":"HP:0000293","name":"Full cheeks","obsolete":false,"parents":["HP:0004426"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Apple cheeks"},{"scope":"EXACT","text":"Big cheeks"},{"scope":"RELATED","text":"Chubby cheeks"},{"scope":"EXACT","text":"Full cheeks"},{"scope":"RELATED","text":"Hyperplasia of cheeks"},{"scope":"RELATED","text":"Hypertrophy of cheeks"},{"scope":"EXACT","text":"Increased size of cheeks"},{"scope":"EXACT","text":"Large cheeks"},{"scope":"RELATED","text":"Puffy cheeks"}]} +{"alt_ids":[],"definition":"Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.","id":"HP:0000294","name":"Low anterior hairline","obsolete":false,"parents":["HP:0000599"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low frontal hairline"},{"scope":"EXACT","text":"Low-set frontal hairline"}]} +{"alt_ids":[],"definition":"A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin.","id":"HP:0000295","name":"Doll-like facies","obsolete":false,"parents":["HP:0001999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Doll-like facial appearance"}]} +{"alt_ids":[],"definition":"Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).","id":"HP:0000297","name":"Facial hypotonia","obsolete":false,"parents":["HP:0000301","HP:0001252"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Atony of facial musculature"},{"scope":"EXACT","text":"Decreased facial muscle tone"},{"scope":"EXACT","text":"Hypotonic facies"},{"scope":"EXACT","text":"Low facial muscle tone"},{"scope":"EXACT","text":"Reduced facial muscle tone"}]} +{"alt_ids":[],"definition":"A lack of facial expression often with staring eyes and a slightly open mouth.","id":"HP:0000298","name":"Mask-like facies","obsolete":false,"parents":["HP:0004673"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Amimia"},{"scope":"EXACT","text":"Expressionless face"},{"scope":"EXACT","text":"Lack of facial expression"},{"scope":"EXACT","text":"Mask-like facial appearance"},{"scope":"EXACT","text":"Masklike facies"}]} +{"alt_ids":[],"definition":"A face with a rounded and slightly elongated outline.","id":"HP:0000300","name":"Oval face","obsolete":false,"parents":["HP:0001999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Oval face"},{"scope":"EXACT","text":"Oval facial shape"},{"scope":"EXACT","text":"Oval facies"}]} +{"alt_ids":[],"definition":"An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).","id":"HP:0000301","name":"Abnormality of facial musculature","obsolete":false,"parents":["HP:0011799","HP:0040286"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of facial muscles"},{"scope":"EXACT","text":"Facial muscle issue"}]} +{"alt_ids":["HP:0000251","HP:0000279","HP:0000328","HP:0002051","HP:0004648","HP:0004656","HP:0008514"],"definition":"Abnormal prominence of the chin related to increased length of the mandible.","id":"HP:0000303","name":"Mandibular prognathia","obsolete":false,"parents":["HP:0000277","HP:0000306"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Big lower jaw"},{"scope":"EXACT","text":"Big mandible"},{"scope":"EXACT","text":"Enlarged mandible"},{"scope":"EXACT","text":"Enlargement of mandible"},{"scope":"EXACT","text":"Hyperplasia of lower jaw"},{"scope":"BROAD","text":"Hypertrophy of lower jaw"},{"scope":"BROAD","text":"Hypertrophy of mandible"},{"scope":"EXACT","text":"Increased projection of lower jaw"},{"scope":"EXACT","text":"Increased projection of mandible"},{"scope":"EXACT","text":"Increased size of lower jaw"},{"scope":"RELATED","text":"Increased size of mandible"},{"scope":"EXACT","text":"Large lower jaw"},{"scope":"EXACT","text":"Large mandible"},{"scope":"EXACT","text":"Lower jaw excess"},{"scope":"EXACT","text":"Lower jaw hyperplasia"},{"scope":"EXACT","text":"Macromandible"},{"scope":"EXACT","text":"Mandible prognathism"},{"scope":"EXACT","text":"Mandibular excess"},{"scope":"EXACT","text":"Mandibular hyperplasia"},{"scope":"EXACT","text":"Mandibular macrognathia"},{"scope":"EXACT","text":"Mandibular prognathism"},{"scope":"EXACT","text":"Prognathia"},{"scope":"EXACT","text":"Prognathism"},{"scope":"EXACT","text":"Prominent chin"},{"scope":"EXACT","text":"Prominent jaw"},{"scope":"EXACT","text":"Prominent lower jaw"},{"scope":"EXACT","text":"Prominent mandible"},{"scope":"EXACT","text":"Relative mandibular prognathism"}]} +{"alt_ids":[],"definition":"An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw.","id":"HP:0000306","name":"Abnormality of the chin","obsolete":false,"parents":["HP:0000271"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the chin"},{"scope":"NARROW","text":"Abnormality of the menton"},{"scope":"NARROW","text":"Anomaly of the chin"},{"scope":"NARROW","text":"Deformity of the chin"},{"scope":"NARROW","text":"Malformation of the chin"}]} +{"alt_ids":["HP:0005330"],"definition":"A marked tapering of the lower face to the chin.","id":"HP:0000307","name":"Pointed chin","obsolete":false,"parents":["HP:0000306"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pointed chin"},{"scope":"EXACT","text":"Pointed mention region"},{"scope":"EXACT","text":"Pointy chin"},{"scope":"EXACT","text":"Small pointed chin"},{"scope":"EXACT","text":"Witch's chin"}]} +{"alt_ids":[],"definition":"A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.","id":"HP:0000308","name":"Microretrognathia","obsolete":false,"parents":["HP:0000278","HP:0000347"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Retromicrognathia"},{"scope":"EXACT","text":"Small retruded chin"}]} +{"alt_ids":["HP:0430026"],"definition":"An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.","id":"HP:0000309","name":"Abnormal midface morphology","obsolete":false,"parents":["HP:0000271"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal morphology of the midface"},{"scope":"EXACT","text":"Abnormality of the midface"},{"scope":"EXACT","text":"Anomaly of the midface"},{"scope":"NARROW","text":"Deformity of the midface"},{"scope":"NARROW","text":"Malformation of the midface"}]} +{"alt_ids":["HP:0000304","HP:0004653"],"definition":"The facial appearance is more circular than usual as viewed from the front.","id":"HP:0000311","name":"Round face","obsolete":false,"parents":["HP:0001999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Circular face"},{"scope":"EXACT","text":"Round face"},{"scope":"EXACT","text":"Round facial appearance"},{"scope":"EXACT","text":"Round facial shape"},{"scope":"EXACT","text":"Round facies"},{"scope":"BROAD","text":"Round, full face"}]} +{"alt_ids":["HP:0000284"],"definition":null,"id":"HP:0000315","name":"Abnormality of the orbital region","obsolete":false,"parents":["HP:0000271"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the eye region"},{"scope":"NARROW","text":"Anomaly of the orbital region of the face"},{"scope":"NARROW","text":"Deformity of the orbital region of the face"},{"scope":"NARROW","text":"Malformation of the orbital region of the face"}]} +{"alt_ids":["HP:0000578","HP:0002001","HP:0004657","HP:0007871"],"definition":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","id":"HP:0000316","name":"Hypertelorism","obsolete":false,"parents":["HP:0100886"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excessive orbital separation"},{"scope":"EXACT","text":"Increased distance between eye sockets"},{"scope":"EXACT","text":"Increased distance between eyes"},{"scope":"EXACT","text":"Increased interpupillary distance"},{"scope":"EXACT","text":"Ocular hypertelorism"},{"scope":"EXACT","text":"Wide-set eyes"},{"scope":"EXACT","text":"Widely spaced eyes"},{"scope":"EXACT","text":"Widened interpupillary distance"}]} +{"alt_ids":["HP:0004651"],"definition":"Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).","id":"HP:0000317","name":"Facial myokymia","obsolete":false,"parents":["HP:0000301","HP:0002411"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Involuntary facial contraction"},{"scope":"EXACT","text":"Involuntary facial quivering"}]} +{"alt_ids":["HP:0000299","HP:0000323","HP:0004663"],"definition":"Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.","id":"HP:0000319","name":"Smooth philtrum","obsolete":false,"parents":["HP:0000288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased depth of philtrum"},{"scope":"EXACT","text":"Flat philtrum"},{"scope":"EXACT","text":"Indistinct philtrum"},{"scope":"EXACT","text":"Philtrum, smooth"},{"scope":"EXACT","text":"Shallow philtrum"},{"scope":"EXACT","text":"Simple philtrum"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000320","name":"Bird-like facies","obsolete":false,"parents":["HP:0001999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bird-like facial appearance"}]} +{"alt_ids":[],"definition":"Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.","id":"HP:0000321","name":"Square face","obsolete":false,"parents":["HP:0001999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Square face"},{"scope":"EXACT","text":"Square facial shape"},{"scope":"EXACT","text":"Square facies"}]} +{"alt_ids":["HP:0200090"],"definition":"Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.","id":"HP:0000322","name":"Short philtrum","obsolete":false,"parents":["HP:0000288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased height of philtrum"},{"scope":"EXACT","text":"Decreased length of philtrum"},{"scope":"EXACT","text":"Decreased vertical dimension of philtrum"},{"scope":"EXACT","text":"Vertical hypoplasia of philtrum"}]} +{"alt_ids":["HP:0003775"],"definition":"An abnormal difference between the left and right sides of the face.","id":"HP:0000324","name":"Facial asymmetry","obsolete":false,"parents":["HP:0001999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Asymmetric facies"},{"scope":"EXACT","text":"Asymmetry of face"},{"scope":"EXACT","text":"Asymmetry of right and left side of face"},{"scope":"EXACT","text":"Crooked face"},{"scope":"EXACT","text":"Facial asymmetry"},{"scope":"RELATED","text":"Unbalanced face"},{"scope":"RELATED","text":"Unequal sides of face"},{"scope":"RELATED","text":"Uneven face"},{"scope":"RELATED","text":"Uneven sides of face"},{"scope":"EXACT","text":"Unsymmetrical face"}]} +{"alt_ids":["HP:0004645","HP:0004662","HP:0004668"],"definition":"Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.","id":"HP:0000325","name":"Triangular face","obsolete":false,"parents":["HP:0001999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Face with broad temples and narrow chin"},{"scope":"EXACT","text":"Inverted triangular face"},{"scope":"EXACT","text":"Triangular face"},{"scope":"EXACT","text":"Triangular facial shape"},{"scope":"EXACT","text":"Triangular facies"}]} +{"alt_ids":[],"definition":"An abnormality of the Maxilla (upper jaw bone).","id":"HP:0000326","name":"Abnormal maxilla morphology","obsolete":false,"parents":["HP:0030791"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the maxilla"},{"scope":"EXACT","text":"Abnormality of the upper jaw bone"},{"scope":"EXACT","text":"Abnormality of the upper jaw bones"},{"scope":"NARROW","text":"Anomaly of the maxilla"},{"scope":"NARROW","text":"Deformity of the maxilla"},{"scope":"NARROW","text":"Deformity of the upper jaw bones"},{"scope":"NARROW","text":"Malformation of the maxilla"},{"scope":"NARROW","text":"Malformation of the upper jaw bones"}]} +{"alt_ids":["HP:0004644"],"definition":"Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.","id":"HP:0000327","name":"Hypoplasia of the maxilla","obsolete":false,"parents":["HP:0000326"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Decreased projection of maxilla"},{"scope":"NARROW","text":"Decreased projection of upper jaw"},{"scope":"EXACT","text":"Decreased size of maxilla"},{"scope":"EXACT","text":"Decreased size of upper jaw"},{"scope":"BROAD","text":"Deficiency of upper jaw bones"},{"scope":"EXACT","text":"Hypoplasia of upper jaw bones"},{"scope":"EXACT","text":"Hypoplastic maxillary bones"},{"scope":"RELATED","text":"Hypotrophic maxilla"},{"scope":"RELATED","text":"Hypotrophic upper jaw bones"},{"scope":"EXACT","text":"Maxillary deficiency"},{"scope":"EXACT","text":"Maxillary hypoplasia"},{"scope":"EXACT","text":"Maxillary micrognathia"},{"scope":"EXACT","text":"Maxillary retrognathia"},{"scope":"EXACT","text":"Maxillary retrusion"},{"scope":"EXACT","text":"Micromaxilla"},{"scope":"RELATED","text":"Retrognathia of upper jaw"},{"scope":"RELATED","text":"Retrusion of upper jaw bones"},{"scope":"EXACT","text":"Small maxilla"},{"scope":"EXACT","text":"Small upper jaw"},{"scope":"EXACT","text":"Small upper jaw bones"},{"scope":"EXACT","text":"Upper jaw deficiency"},{"scope":"EXACT","text":"Upper jaw retrusion"}]} +{"alt_ids":[],"definition":"Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face.","id":"HP:0000329","name":"Facial hemangioma","obsolete":false,"parents":["HP:0001028","HP:0011799"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Facial hemangiomata"}]} +{"alt_ids":[],"definition":"Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.","id":"HP:0000331","name":"Short chin","obsolete":false,"parents":["HP:0000306"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased height of chin"},{"scope":"EXACT","text":"Short chin"},{"scope":"EXACT","text":"Short lower third of face"},{"scope":"RELATED","text":"Small chin"},{"scope":"EXACT","text":"Vertical deficiency of chin"},{"scope":"EXACT","text":"Vertical hypoplasia of chin"}]} +{"alt_ids":[],"definition":"Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.","id":"HP:0000336","name":"Prominent supraorbital ridges","obsolete":false,"parents":["HP:0100538"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Hyperplasia of supraorbital margins"},{"scope":"NARROW","text":"Hyperplasia of supraorbital ridge"},{"scope":"NARROW","text":"Hypertrophy of supraorbital margins"},{"scope":"NARROW","text":"Hypertrophy of supraorbital ridge"},{"scope":"EXACT","text":"Prominent brow"},{"scope":"EXACT","text":"Prominent supraorbital margins"},{"scope":"EXACT","text":"Prominent supraorbital ridge"},{"scope":"EXACT","text":"Protruding supraorbital ridge"},{"scope":"EXACT","text":"Supraorbital hyperostosis"}]} +{"alt_ids":["HP:0000352","HP:0000354"],"definition":"Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.","id":"HP:0000337","name":"Broad forehead","obsolete":false,"parents":["HP:0000290"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bitemporal widening"},{"scope":"EXACT","text":"Broad forehead"},{"scope":"EXACT","text":"Increased bitemporal dimension"},{"scope":"EXACT","text":"Increased bitemporal width"},{"scope":"EXACT","text":"Increased width of the forehead"},{"scope":"EXACT","text":"Intertemporal widening"},{"scope":"EXACT","text":"Wide forehead"}]} +{"alt_ids":["HP:0008769"],"definition":"A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation.","id":"HP:0000338","name":"Hypomimic face","obsolete":false,"parents":["HP:0000301","HP:0004673"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Decreased facial expressions"},{"scope":"RELATED","text":"Decreased facial muscle movement"},{"scope":"EXACT","text":"Dull facial expression"},{"scope":"EXACT","text":"Hypomimia"}]} +{"alt_ids":[],"definition":"Coarse facial features reminiscent of those of a boxer.","id":"HP:0000339","name":"Pugilistic facies","obsolete":false,"parents":["HP:0000280"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Boxer-like facial appearance"},{"scope":"EXACT","text":"Pugilistic facial appearance"}]} +{"alt_ids":["HP:0000351","HP:0004480","HP:0008493","HP:0008500"],"definition":"Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.","id":"HP:0000340","name":"Sloping forehead","obsolete":false,"parents":["HP:0000290"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inclined forehead"},{"scope":"EXACT","text":"Posteriorly sloping forehead"},{"scope":"EXACT","text":"Receding forehead"},{"scope":"EXACT","text":"Sloping forehead"}]} +{"alt_ids":["HP:0000314","HP:0004674","HP:0004677"],"definition":"Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).","id":"HP:0000341","name":"Narrow forehead","obsolete":false,"parents":["HP:0000290"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bitemporal narrowing"},{"scope":"EXACT","text":"Bitemporal narrowness"},{"scope":"EXACT","text":"Bitemporal skull narrowing"},{"scope":"EXACT","text":"Decreased width of the forehead"},{"scope":"EXACT","text":"Intertemporal narrowing"},{"scope":"EXACT","text":"Narrow bitemporal diameter"},{"scope":"EXACT","text":"Narrow bitemporal width"},{"scope":"EXACT","text":"Narrow forehead"},{"scope":"EXACT","text":"Temporal narrowness"}]} +{"alt_ids":[],"definition":"Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.","id":"HP:0000343","name":"Long philtrum","obsolete":false,"parents":["HP:0000288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elongated philtrum"},{"scope":"EXACT","text":"Increased height of philtrum"},{"scope":"EXACT","text":"Increased length of philtrum"},{"scope":"EXACT","text":"Increased vertical dimension of philtrum"},{"scope":"EXACT","text":"Vertical hyperplasia of philtrum"}]} +{"alt_ids":[],"definition":"An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling.","id":"HP:0000346","name":"Whistling appearance","obsolete":false,"parents":["HP:0000205"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Whistling appearance"},{"scope":"EXACT","text":"Whistling facial appearance"}]} +{"alt_ids":["HP:0000210","HP:0000330","HP:0000345","HP:0002005","HP:0002674","HP:0004669","HP:0005460","HP:0005470"],"definition":"Developmental hypoplasia of the mandible.","id":"HP:0000347","name":"Micrognathia","obsolete":false,"parents":["HP:0009118"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Decreased projection of lower jaw"},{"scope":"NARROW","text":"Decreased projection of mandible"},{"scope":"EXACT","text":"Decreased size of lower jaw"},{"scope":"EXACT","text":"Decreased size of mandible"},{"scope":"BROAD","text":"Deficiency of lower jaw"},{"scope":"EXACT","text":"Hypoplasia of lower jaw"},{"scope":"EXACT","text":"Hypoplasia of mandible"},{"scope":"EXACT","text":"Hypoplastic mandible"},{"scope":"EXACT","text":"Hypoplastic mandible condyle"},{"scope":"EXACT","text":"Hypotrophic lower jaw"},{"scope":"EXACT","text":"Hypotrophic mandible"},{"scope":"EXACT","text":"Little lower jaw"},{"scope":"EXACT","text":"Little mandible"},{"scope":"EXACT","text":"Lower jaw deficiency"},{"scope":"EXACT","text":"Lower jaw hypoplasia"},{"scope":"EXACT","text":"Mandibular deficiency"},{"scope":"EXACT","text":"Mandibular hypoplasia"},{"scope":"EXACT","text":"Mandibular micrognathia"},{"scope":"EXACT","text":"Micrognathia of lower jaw"},{"scope":"EXACT","text":"Micromandible"},{"scope":"EXACT","text":"Robin mandible"},{"scope":"EXACT","text":"Severe hypoplasia of mandible"},{"scope":"EXACT","text":"Small jaw"},{"scope":"EXACT","text":"Small lower jaw"},{"scope":"EXACT","text":"Small mandible"},{"scope":"EXACT","text":"Underdevelopment of lower jaw"},{"scope":"EXACT","text":"Underdevelopment of mandible"}]} +{"alt_ids":["HP:0000342"],"definition":"An abnormally increased height of the forehead.","id":"HP:0000348","name":"High forehead","obsolete":false,"parents":["HP:0000290"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High forehead"},{"scope":"RELATED","text":"Tall forehead"}]} +{"alt_ids":["HP:0004544"],"definition":"Frontal hairline with bilateral arcs to a low point in the midline of the forehead.","id":"HP:0000349","name":"Widow's peak","obsolete":false,"parents":["HP:0009890"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hairline peak"},{"scope":"EXACT","text":"Hairline point"},{"scope":"EXACT","text":"Pointed frontal hairline"},{"scope":"EXACT","text":"Pointed hairline at front of head"},{"scope":"EXACT","text":"V-shaped frontal hairline"},{"scope":"EXACT","text":"Widow's peak"}]} +{"alt_ids":[],"definition":"The presence of a forehead that is abnormally small.","id":"HP:0000350","name":"Small forehead","obsolete":false,"parents":["HP:0000290"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased size of forehead"},{"scope":"EXACT","text":"Decreased size of frontal region of face"},{"scope":"NARROW","text":"Hypoplasia of forehead"},{"scope":"NARROW","text":"Hypotrophic forehead"},{"scope":"EXACT","text":"Small forehead"}]} +{"alt_ids":["HP:0001752"],"definition":"An abnormality of the external ear.","id":"HP:0000356","name":"Abnormality of the outer ear","obsolete":false,"parents":["HP:0031703"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal pinnae"},{"scope":"EXACT","text":"Abnormality of the auricle"},{"scope":"EXACT","text":"Abnormality of the external ear"},{"scope":"EXACT","text":"Abnormality of the outer ear"},{"scope":"EXACT","text":"External ear malformation"},{"scope":"EXACT","text":"External ear malformations"},{"scope":"EXACT","text":"Malformed pinnae"},{"scope":"EXACT","text":"Outer ear abnormality"}]} +{"alt_ids":[],"definition":"Abnormal location of the ear.","id":"HP:0000357","name":"Abnormal location of ears","obsolete":false,"parents":["HP:0000377"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal location of ears"},{"scope":"EXACT","text":"External ear position defect"}]} +{"alt_ids":["HP:0000368","HP:0008535"],"definition":"A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).","id":"HP:0000358","name":"Posteriorly rotated ears","obsolete":false,"parents":["HP:0000357"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ear, posterior angulation, increased"},{"scope":"EXACT","text":"Ears rotated toward back of head"},{"scope":"EXACT","text":"Posteriorly angulated ears"},{"scope":"EXACT","text":"Posteriorly rotated"},{"scope":"EXACT","text":"Posteriorly rotated auricles"},{"scope":"EXACT","text":"Posteriorly-angulated ears"},{"scope":"EXACT","text":"Posteriorly-rotated ears"}]} +{"alt_ids":[],"definition":"An abnormality of the inner ear.","id":"HP:0000359","name":"Abnormality of the inner ear","obsolete":false,"parents":["HP:0031703"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the inner ear"},{"scope":"EXACT","text":"Inner ear abnormality"}]} +{"alt_ids":[],"definition":"Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.","id":"HP:0000360","name":"Tinnitus","obsolete":false,"parents":["HP:0000364"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ringing in ears"},{"scope":"EXACT","text":"Ringing in the ears"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000361","name":"obsolete Pulsatile tinnitus (tympanic paraganglioma)","obsolete":true,"parents":[],"replaced_by":["HP:0008629"],"synonyms":[]} +{"alt_ids":[],"definition":"In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss.","id":"HP:0000362","name":"Otosclerosis","obsolete":false,"parents":["HP:0008628"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the lobule of pinna.","id":"HP:0000363","name":"Abnormal earlobe morphology","obsolete":false,"parents":["HP:0000377"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal earlobe"},{"scope":"EXACT","text":"Abnormal lobe of ear"},{"scope":"EXACT","text":"Abnormality of auricular lobule"},{"scope":"EXACT","text":"Abnormality of ear lobe"},{"scope":"EXACT","text":"Abnormality of earlobe"},{"scope":"EXACT","text":"Abnormality of lobulus auriculae"}]} +{"alt_ids":[],"definition":"An abnormality of the sensory perception of sound.","id":"HP:0000364","name":"Hearing abnormality","obsolete":false,"parents":["HP:0031704"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal hearing"},{"scope":"EXACT","text":"Hearing abnormality"}]} +{"alt_ids":["HP:0000404","HP:0001728","HP:0001729","HP:0001754","HP:0008560","HP:0008563"],"definition":"A decreased magnitude of the sensory perception of sound.","id":"HP:0000365","name":"Hearing impairment","obsolete":false,"parents":["HP:0000364"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deafness"},{"scope":"EXACT","text":"Hearing defect"},{"scope":"EXACT","text":"Hearing impairment"},{"scope":"RELATED","text":"Hearing loss"},{"scope":"EXACT","text":"Hypacusis"},{"scope":"RELATED","text":"Hypoacusis"}]} +{"alt_ids":[],"definition":"An abnormality of the nose.","id":"HP:0000366","name":"Abnormality of the nose","obsolete":false,"parents":["HP:0000271"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the nose"},{"scope":"EXACT","text":"Anomaly of the nose"},{"scope":"NARROW","text":"Deformity of the nose"},{"scope":"NARROW","text":"Malformation of the nose"},{"scope":"EXACT","text":"Nasal abnormality"},{"scope":"EXACT","text":"Nasal anomaly"},{"scope":"NARROW","text":"Nasal deformity"},{"scope":"NARROW","text":"Nasal malformation"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000368","name":"obsolete Low-set, posteriorly rotated ears","obsolete":true,"parents":[],"replaced_by":["HP:0000358"],"synonyms":[]} +{"alt_ids":[],"definition":"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.","id":"HP:0000369","name":"Low-set ears","obsolete":false,"parents":["HP:0000357"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low set ears"},{"scope":"EXACT","text":"Low-set ears"},{"scope":"EXACT","text":"Low-set pinnae"},{"scope":"EXACT","text":"Lowset ears"},{"scope":"EXACT","text":"Melotia"}]} +{"alt_ids":[],"definition":"An abnormality of the middle ear.","id":"HP:0000370","name":"Abnormality of the middle ear","obsolete":false,"parents":["HP:0031703"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Middle ear abnormalities"},{"scope":"EXACT","text":"Middle ear abnormality"}]} +{"alt_ids":[],"definition":"Acute otitis media is a short and generally painful infection of the middle ear.","id":"HP:0000371","name":"Acute otitis media","obsolete":false,"parents":["HP:0000388"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acute middle ear infection"}]} +{"alt_ids":[],"definition":"Any structural abnormality of the external acoustic tube (also known as the auditory canal).","id":"HP:0000372","name":"Abnormal auditory canal morphology","obsolete":false,"parents":["HP:0000356"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the auditory canal"},{"scope":"EXACT","text":"Auditory canal abnormality"}]} +{"alt_ids":[],"definition":"An abnormality of the cochlea.","id":"HP:0000375","name":"Abnormal cochlea morphology","obsolete":false,"parents":["HP:0011390"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of cochlea"}]} +{"alt_ids":[],"definition":"With incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation.","id":"HP:0000376","name":"Incomplete partition of the cochlea type II","obsolete":false,"parents":["HP:0011373"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Cochlear malformation defect (Mondini dysplasia)"},{"scope":"RELATED","text":"Mondini defect"},{"scope":"RELATED","text":"Mondini dysplasia"},{"scope":"RELATED","text":"Mondini malformation"}]} +{"alt_ids":["HP:0000390","HP:0000398","HP:0004465","HP:0008562","HP:0008566","HP:0008567","HP:0008572","HP:0008580","HP:0008582","HP:0008594","HP:0008602","HP:0040111"],"definition":"An abnormality of the pinna, which is also referred to as the auricle or external ear.","id":"HP:0000377","name":"Abnormal pinna morphology","obsolete":false,"parents":["HP:0000356"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal form of ears"},{"scope":"EXACT","text":"Abnormally shaped ears"},{"scope":"EXACT","text":"Auricular malformation"},{"scope":"EXACT","text":"Deformed auricles"},{"scope":"EXACT","text":"Deformed ears"},{"scope":"EXACT","text":"Dysplastic ears"},{"scope":"EXACT","text":"Malformation of auricle"},{"scope":"EXACT","text":"Malformed auricles"},{"scope":"EXACT","text":"Malformed ears"},{"scope":"EXACT","text":"Malformed external ears"},{"scope":"EXACT","text":"Minor malformation of the auricles"},{"scope":"EXACT","text":"Poorly defined conchae"}]} +{"alt_ids":["HP:0008531","HP:0008600"],"definition":"Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).","id":"HP:0000378","name":"Cupped ear","obsolete":false,"parents":["HP:0000377"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Capuchin ears"},{"scope":"EXACT","text":"Cup-shaped ears"},{"scope":"EXACT","text":"Cupped ear"},{"scope":"RELATED","text":"Cupped ears"},{"scope":"EXACT","text":"Simple, cup-shaped ears"}]} +{"alt_ids":[],"definition":"Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).","id":"HP:0000381","name":"Stapes ankylosis","obsolete":false,"parents":["HP:0008628"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Stapes fixation"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000383","name":"Abnormal periauricular region morphology","obsolete":false,"parents":["HP:0004426"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of periauricular region"},{"scope":"NARROW","text":"Abnormality of the region around the ear"},{"scope":"NARROW","text":"Anomaly of the periauricular region"},{"scope":"NARROW","text":"Deformity of the periauricular region"},{"scope":"NARROW","text":"Malformation of the periauricular region"}]} +{"alt_ids":["HP:0008575","HP:0100278"],"definition":"A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).","id":"HP:0000384","name":"Preauricular skin tag","obsolete":false,"parents":["HP:0000383","HP:0010609"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ear tag"},{"scope":"EXACT","text":"Periauricular skin tag"},{"scope":"EXACT","text":"Preauricular acrochordon"},{"scope":"EXACT","text":"Preauricular fibroepithelial polyp"},{"scope":"EXACT","text":"Preauricular skin tags"},{"scope":"EXACT","text":"Preauricular tag"},{"scope":"EXACT","text":"Preauricular tags"},{"scope":"BROAD","text":"Skin tag in front of the ear"},{"scope":"BROAD","text":"Skin tag on the posterior cheek"}]} +{"alt_ids":["HP:0008616"],"definition":"Reduced volume of the earlobe.","id":"HP:0000385","name":"Small earlobe","obsolete":false,"parents":["HP:0009906"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic earlobes"},{"scope":"EXACT","text":"Hypoplastic lobules"},{"scope":"EXACT","text":"Small earlobe"},{"scope":"EXACT","text":"Small earlobes"}]} +{"alt_ids":[],"definition":"Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura.","id":"HP:0000387","name":"Absent earlobe","obsolete":false,"parents":["HP:0009906"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent ear lobes"},{"scope":"EXACT","text":"Absent earlobe"},{"scope":"EXACT","text":"Earlobe, absent"},{"scope":"EXACT","text":"Lobeless ears"},{"scope":"EXACT","text":"Lobule aplasia"}]} +{"alt_ids":[],"definition":"Inflammation or infection of the middle ear.","id":"HP:0000388","name":"Otitis media","obsolete":false,"parents":["HP:0008609","HP:0012649"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Middle ear infection"}]} +{"alt_ids":["HP:0008524"],"definition":"Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.","id":"HP:0000389","name":"Chronic otitis media","obsolete":false,"parents":["HP:0000388"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Chronic ear infection"},{"scope":"EXACT","text":"Chronic infections of the middle ear"},{"scope":"RELATED","text":"Chronic middle ear infection"},{"scope":"EXACT","text":"Otitis media, chronic"}]} +{"alt_ids":[],"definition":"Increased thickness of the helix of the ear.","id":"HP:0000391","name":"Thickened helices","obsolete":false,"parents":["HP:0011039"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thick helix"}]} +{"alt_ids":[],"definition":"Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha.","id":"HP:0000394","name":"Lop ear","obsolete":false,"parents":["HP:0000377"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of an abnormally prominent antihelix.","id":"HP:0000395","name":"Prominent antihelix","obsolete":false,"parents":["HP:0009738"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001758","HP:0008570"],"definition":"A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.","id":"HP:0000396","name":"Overfolded helix","obsolete":false,"parents":["HP:0008544"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Over-folded helices"},{"scope":"EXACT","text":"Overfolded ears"},{"scope":"EXACT","text":"Overfolded helices"}]} +{"alt_ids":["HP:0001731"],"definition":"A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.","id":"HP:0000399","name":"Prelingual sensorineural hearing impairment","obsolete":false,"parents":["HP:0011474"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deafness, sensorineural, prelingual"},{"scope":"EXACT","text":"Prelingual sensorineural deafness"}]} +{"alt_ids":["HP:0000382","HP:0000386","HP:0000401","HP:0001755"],"definition":"Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).","id":"HP:0000400","name":"Macrotia","obsolete":false,"parents":["HP:0000377"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Large ears"},{"scope":"EXACT","text":"Large pinnae"}]} +{"alt_ids":["HP:0000373"],"definition":"An abnormal narrowing of the external auditory canal.","id":"HP:0000402","name":"Stenosis of the external auditory canal","obsolete":false,"parents":["HP:0000372"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"External auditory canal stenosis"},{"scope":"EXACT","text":"Narrow auditory canals"},{"scope":"BROAD","text":"Narrow ear canal"},{"scope":"EXACT","text":"Narrow external auditory canals"},{"scope":"EXACT","text":"Narrow external auditory meatus"},{"scope":"EXACT","text":"Narrowing of passageway from outer ear to middle ear"},{"scope":"EXACT","text":"Stenotic external auditory canal"}]} +{"alt_ids":["HP:0008622","HP:0008623","HP:0008624","HP:0040268"],"definition":"Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.","id":"HP:0000403","name":"Recurrent otitis media","obsolete":false,"parents":["HP:0000388","HP:0002719"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Frequent otitis media"},{"scope":"EXACT","text":"Multiple episodes of otitis media"},{"scope":"EXACT","text":"Otitis media, recurrent"},{"scope":"EXACT","text":"Recurrent episodes of otitis media"},{"scope":"EXACT","text":"Recurrent middle ear infection"},{"scope":"EXACT","text":"Susceptibility to otitis media"}]} +{"alt_ids":["HP:0000367","HP:0008581"],"definition":"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.","id":"HP:0000405","name":"Conductive hearing impairment","obsolete":false,"parents":["HP:0000365","HP:0011452"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Conduction deafness"},{"scope":"EXACT","text":"Conductive deafness"},{"scope":"EXACT","text":"Conductive hearing loss"},{"scope":"EXACT","text":"Hearing loss, conductive"}]} +{"alt_ids":["HP:0000374","HP:0001753","HP:0001916","HP:0008538","HP:0008553","HP:0008565","HP:0008576","HP:0008611","HP:0008613","HP:0008614"],"definition":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","id":"HP:0000407","name":"Sensorineural hearing impairment","obsolete":false,"parents":["HP:0000365","HP:0011389"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hearing loss, sensorineural"},{"scope":"EXACT","text":"Sensorineural deafness"},{"scope":"EXACT","text":"Sensorineural hearing loss"}]} +{"alt_ids":["HP:0000397","HP:0000406","HP:0008592","HP:0008601","HP:0008617"],"definition":"A progressive form of sensorineural hearing impairment.","id":"HP:0000408","name":"Progressive sensorineural hearing impairment","obsolete":false,"parents":["HP:0000407","HP:0001730"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bilateral progressive sensorineural hearing loss"},{"scope":"EXACT","text":"Hearing loss, progressive sensorineural"},{"scope":"EXACT","text":"Hearing loss, sensorineural, bilateral, progressive"},{"scope":"EXACT","text":"Hearing loss, sensorineural, progressive"},{"scope":"EXACT","text":"Progressive bilateral sensorineural hearing loss"},{"scope":"EXACT","text":"Sensorineural hearing loss, progressive"}]} +{"alt_ids":[],"definition":"A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.","id":"HP:0000410","name":"Mixed hearing impairment","obsolete":false,"parents":["HP:0000405","HP:0000407"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hearing loss, mixed"},{"scope":"EXACT","text":"Mixed hearing impairment"},{"scope":"EXACT","text":"Mixed hearing loss"}]} +{"alt_ids":["HP:0000412"],"definition":"Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).","id":"HP:0000411","name":"Protruding ear","obsolete":false,"parents":["HP:0000377"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Otapostasis"},{"scope":"EXACT","text":"Prominent ear"},{"scope":"EXACT","text":"Prominent ears"},{"scope":"RELATED","text":"Protruding ears"}]} +{"alt_ids":["HP:0008547","HP:0008564","HP:0008626"],"definition":"Absence or failure to form of the external auditory canal.","id":"HP:0000413","name":"Atresia of the external auditory canal","obsolete":false,"parents":["HP:0000372"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent auditory canals"},{"scope":"EXACT","text":"Absent ear canal"},{"scope":"EXACT","text":"Absent external auditory canals"},{"scope":"RELATED","text":"Atresia of the external auditory canals"},{"scope":"EXACT","text":"Atretic auditory canal"},{"scope":"EXACT","text":"Atretic auditory canals"},{"scope":"EXACT","text":"Atretic external auditory canal"},{"scope":"EXACT","text":"Atretic external auditory canals"},{"scope":"EXACT","text":"Auditory canal atresia"},{"scope":"EXACT","text":"External acoustic meatus atresia"},{"scope":"EXACT","text":"External auditory canal atresia"},{"scope":"EXACT","text":"External auditory meatal atresia"},{"scope":"EXACT","text":"External auditory meatus atresia"}]} +{"alt_ids":["HP:0000443"],"definition":"Increased volume and globular shape of the anteroinferior aspect of the nose.","id":"HP:0000414","name":"Bulbous nose","obsolete":false,"parents":["HP:0000436"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Bulbous nasal tip"},{"scope":"EXACT","text":"Bulbous nose"},{"scope":"RELATED","text":"Potato nose"}]} +{"alt_ids":[],"definition":"Abnormality of the choanae (the posterior nasal apertures).","id":"HP:0000415","name":"Abnormal choanae morphology","obsolete":false,"parents":["HP:0005105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the choanae"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000417","name":"Slender nose","obsolete":false,"parents":["HP:0005105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Slender nose"}]} +{"alt_ids":[],"definition":"Decreased width of the nasal ridge.","id":"HP:0000418","name":"Narrow nasal ridge","obsolete":false,"parents":["HP:0011119"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased width of dorsum of nose"},{"scope":"EXACT","text":"Decreased width of nasal dorsum"},{"scope":"EXACT","text":"Decreased width of nasal ridge"},{"scope":"EXACT","text":"Narrow dorsum of nose"},{"scope":"EXACT","text":"Narrow nasal dorsum"},{"scope":"EXACT","text":"Narrow nasal ridge"},{"scope":"EXACT","text":"Pinched nose"},{"scope":"EXACT","text":"Thin dorsum of nose"},{"scope":"EXACT","text":"Thin nasal dorsum"},{"scope":"EXACT","text":"Thin nasal ridge"}]} +{"alt_ids":[],"definition":"An abnormality of the nasal septum.","id":"HP:0000419","name":"Abnormal nasal septum morphology","obsolete":false,"parents":["HP:0005105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of septum of nose"},{"scope":"EXACT","text":"Abnormality of the nasal septum"},{"scope":"EXACT","text":"Anomaly of nasal septum"},{"scope":"EXACT","text":"Anomaly of septum of nose"}]} +{"alt_ids":[],"definition":"Reduced superior to inferior length of the nasal septum.","id":"HP:0000420","name":"Short nasal septum","obsolete":false,"parents":["HP:0000419"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased length of nasal septum"},{"scope":"EXACT","text":"Decreased length of septum of nose"},{"scope":"EXACT","text":"Short nasal septum"},{"scope":"EXACT","text":"Short septum of nose"}]} +{"alt_ids":[],"definition":"Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.","id":"HP:0000421","name":"Epistaxis","obsolete":false,"parents":["HP:0000366","HP:0001892"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bloody nose"},{"scope":"EXACT","text":"Frequent nosebleeds"},{"scope":"EXACT","text":"Nasal haemorrhage"},{"scope":"EXACT","text":"Nasal hemorrhage"},{"scope":"EXACT","text":"Nose bleed"},{"scope":"EXACT","text":"Nose bleeding"},{"scope":"EXACT","text":"Nosebleed"}]} +{"alt_ids":["HP:0000423"],"definition":"Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi.","id":"HP:0000422","name":"Abnormal nasal bridge morphology","obsolete":false,"parents":["HP:0005105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the bridge of the nose"},{"scope":"EXACT","text":"Abnormality of the nasal bridge"},{"scope":"EXACT","text":"Abnormality of the nasal root"},{"scope":"NARROW","text":"Deformity of the bridge of the nose"},{"scope":"NARROW","text":"Deformity of the nasal bridge"},{"scope":"NARROW","text":"Malformation of the bridge of the nose"},{"scope":"NARROW","text":"Malformation of the nasal bridge"}]} +{"alt_ids":["HP:0000432","HP:0000442","HP:0004498","HP:0005287"],"definition":"Anterior positioning of the nasal root in comparison to the usual positioning for age.","id":"HP:0000426","name":"Prominent nasal bridge","obsolete":false,"parents":["HP:0000422"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Convex bridge of nose"},{"scope":"RELATED","text":"Convex nasal bridge"},{"scope":"EXACT","text":"Elevated nasal bridge"},{"scope":"EXACT","text":"High nasal bridge"},{"scope":"EXACT","text":"Prominent bridge of nose"},{"scope":"EXACT","text":"Prominent nasal bridge"},{"scope":"EXACT","text":"Prominent nasal root"},{"scope":"EXACT","text":"Protruding bridge of nose"},{"scope":"EXACT","text":"Protruding nasal bridge"}]} +{"alt_ids":[],"definition":"An abnormality of the Ala of nose.","id":"HP:0000429","name":"Abnormal morphology of the nasal alae","obsolete":false,"parents":["HP:0010938"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the nasal ala"},{"scope":"EXACT","text":"Abnormality of the nasal alae"},{"scope":"NARROW","text":"Abnormality of the nasal alar cartilage"},{"scope":"NARROW","text":"Deformity of the nasal ala"},{"scope":"NARROW","text":"Deformity of the nasal alar cartilage"},{"scope":"NARROW","text":"Malformation of the nasal ala"},{"scope":"NARROW","text":"Malformation of the nasal alar cartilage"}]} +{"alt_ids":["HP:0004497","HP:0004507","HP:0005276","HP:0005277","HP:0005286"],"definition":"Thinned, deficient, or excessively arched ala nasi.","id":"HP:0000430","name":"Underdeveloped nasal alae","obsolete":false,"parents":["HP:0000429","HP:0009924"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ala nasi, underdeveloped"},{"scope":"EXACT","text":"Alar cartilage hypoplasia"},{"scope":"EXACT","text":"Decreased size of nasal alae"},{"scope":"EXACT","text":"Hypoplastic alae nasae"},{"scope":"EXACT","text":"Hypoplastic alae nasi"},{"scope":"EXACT","text":"Hypoplastic alar cartilage"},{"scope":"EXACT","text":"Hypoplastic alar nasae"},{"scope":"EXACT","text":"Hypoplastic nares"},{"scope":"EXACT","text":"Hypoplastic nasal alae"},{"scope":"EXACT","text":"Hypoplastic nasal wings"},{"scope":"EXACT","text":"Hypoplastic nostrils"},{"scope":"EXACT","text":"Nasal cartilage hypoplasia"},{"scope":"EXACT","text":"Small nasal alae"},{"scope":"EXACT","text":"Thin hypoplastic alae nasi"},{"scope":"EXACT","text":"Underdeveloped tissue around nostril"}]} +{"alt_ids":["HP:0000424","HP:0004500","HP:0004504","HP:0004650","HP:0200139"],"definition":"Increased breadth of the nasal bridge (and with it, the nasal root).","id":"HP:0000431","name":"Wide nasal bridge","obsolete":false,"parents":["HP:0000422"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Broad flat nasal bridge"},{"scope":"EXACT","text":"Broad nasal bridge"},{"scope":"EXACT","text":"Broad nasal root"},{"scope":"EXACT","text":"Broadened nasal bridge"},{"scope":"EXACT","text":"Increased breadth of bridge of nose"},{"scope":"EXACT","text":"Increased breadth of nasal bridge"},{"scope":"EXACT","text":"Increased width of bridge of nose"},{"scope":"EXACT","text":"Increased width of nasal bridge"},{"scope":"EXACT","text":"Nasal bridge broad"},{"scope":"EXACT","text":"Nasal bridge, wide"},{"scope":"EXACT","text":"Wide bridge of nose"},{"scope":"EXACT","text":"Wide nasal bridge"},{"scope":"EXACT","text":"Widened nasal bridge"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000433","name":"Abnormal nasal mucosa morphology","obsolete":false,"parents":["HP:0005105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of mucosa of nose"},{"scope":"EXACT","text":"Abnormality of mucous membrane of nose"},{"scope":"EXACT","text":"Abnormality of nasal mucous membrane"},{"scope":"EXACT","text":"Abnormality of the nasal mucosa"}]} +{"alt_ids":[],"definition":"Telangiectasia of the nasal mucosa.","id":"HP:0000434","name":"Nasal mucosa telangiectasia","obsolete":false,"parents":["HP:0000433","HP:0100579"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Angioectasia of mucosa of nose"},{"scope":"EXACT","text":"Angioectasia of mucous membrane of nose"},{"scope":"EXACT","text":"Angioectasia of nasal mucous membrane"},{"scope":"EXACT","text":"Nasal mucous membrane telangiectasia"},{"scope":"EXACT","text":"Spider veins of mucosa of nose"},{"scope":"EXACT","text":"Spider veins of mucous membrane of nose"},{"scope":"EXACT","text":"Spider veins of nasal mucous membrane"},{"scope":"EXACT","text":"Telangiectasia of mucosa of nose"},{"scope":"EXACT","text":"Telangiectasia of mucous membrane of nose"},{"scope":"EXACT","text":"Telangiectasia of nasal mucous membrane"}]} +{"alt_ids":[],"definition":"An abnormality of the nasal tip.","id":"HP:0000436","name":"Abnormal nasal tip morphology","obsolete":false,"parents":["HP:0010938"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the nasal tip"},{"scope":"EXACT","text":"Abnormality of tip of nose"},{"scope":"NARROW","text":"Deformity of the nasal tip"},{"scope":"NARROW","text":"Deformity of tip of nose"},{"scope":"NARROW","text":"Malformation of the nasal tip"},{"scope":"NARROW","text":"Malformation of tip of nose"}]} +{"alt_ids":["HP:0005279"],"definition":"Decreased distance from the nasal tip to the nasal base.","id":"HP:0000437","name":"Depressed nasal tip","obsolete":false,"parents":["HP:0000436"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Caved in nasal tip"},{"scope":"EXACT","text":"Depressed nasal tip"},{"scope":"EXACT","text":"Depressed tip of nose"},{"scope":"EXACT","text":"Flat nasal tip"},{"scope":"EXACT","text":"Flat tip of nose"},{"scope":"EXACT","text":"Flattened nasal tip"},{"scope":"EXACT","text":"Nasal tip, depressed"},{"scope":"EXACT","text":"Nasal tip, recessed"},{"scope":"EXACT","text":"Nasal tip, retruded"},{"scope":"EXACT","text":"Retruded tip of nose"}]} +{"alt_ids":["HP:0003683"],"definition":"Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.","id":"HP:0000444","name":"Convex nasal ridge","obsolete":false,"parents":["HP:0011119"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Beaked nose"},{"scope":"EXACT","text":"Beaklike protrusion"},{"scope":"EXACT","text":"Convex dorsum of nose"},{"scope":"EXACT","text":"Convex nasal dorsum"},{"scope":"EXACT","text":"Hooked nose"},{"scope":"EXACT","text":"Polly beak nasal deformity"}]} +{"alt_ids":["HP:0000438"],"definition":"Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.","id":"HP:0000445","name":"Wide nose","obsolete":false,"parents":["HP:0005105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad nose"},{"scope":"EXACT","text":"Increased breadth of nose"},{"scope":"EXACT","text":"Increased nasal breadth"},{"scope":"EXACT","text":"Increased nasal width"},{"scope":"EXACT","text":"Increased width of nose"},{"scope":"EXACT","text":"Wide nose"}]} +{"alt_ids":["HP:0100782"],"definition":"Decreased width of the bony bridge of the nose.","id":"HP:0000446","name":"Narrow nasal bridge","obsolete":false,"parents":["HP:0000422"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrow bridge of nose"},{"scope":"EXACT","text":"Narrow nasal bridge"},{"scope":"EXACT","text":"Narrow nasal root"},{"scope":"EXACT","text":"Nasal Bridge, Narrow"},{"scope":"EXACT","text":"Nasal bridge, thin"},{"scope":"RELATED","text":"Pinched bridge of nose"},{"scope":"RELATED","text":"Pinched nasal bridge"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000447","name":"Pear-shaped nose","obsolete":false,"parents":["HP:0005105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pear-shaped nose"}]} +{"alt_ids":["HP:0000461","HP:0005271","HP:0200140"],"definition":"Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.","id":"HP:0000448","name":"Prominent nose","obsolete":false,"parents":["HP:0005105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Big nose"},{"scope":"EXACT","text":"Disproportionately large nose"},{"scope":"RELATED","text":"Hyperplasia of nose"},{"scope":"RELATED","text":"Hypertrophy of nose"},{"scope":"EXACT","text":"Increased nasal size"},{"scope":"EXACT","text":"Increased size of nose"},{"scope":"EXACT","text":"Large nose"},{"scope":"RELATED","text":"Nasal hyperplasia"},{"scope":"RELATED","text":"Nasal hypertrophy"},{"scope":"EXACT","text":"Prominent nose"},{"scope":"EXACT","text":"Pronounced nose"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000451","name":"Triangular nasal tip","obsolete":false,"parents":["HP:0000436"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular nasal tip"},{"scope":"EXACT","text":"Triangular shaped tip of nose"}]} +{"alt_ids":[],"definition":"Abnormal narrowing of the choana (the posterior nasal aperture).","id":"HP:0000452","name":"Choanal stenosis","obsolete":false,"parents":["HP:0000415"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Coanal stenosis"},{"scope":"EXACT","text":"Narrowing of the rear opening of the nasal cavity"}]} +{"alt_ids":["HP:0000416","HP:0004496","HP:0004503"],"definition":"Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.","id":"HP:0000453","name":"Choanal atresia","obsolete":false,"parents":["HP:0000415"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blockage of the rear opening of the nasal cavity"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000454","name":"Flared nostrils","obsolete":false,"parents":["HP:0000429"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flared nasal alae"},{"scope":"EXACT","text":"Flared nostrils"}]} +{"alt_ids":["HP:0004501","HP:0005269"],"definition":"Increase in width of the nasal tip.","id":"HP:0000455","name":"Broad nasal tip","obsolete":false,"parents":["HP:0000436"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad nasal tip"},{"scope":"EXACT","text":"Broad tip of nose"},{"scope":"RELATED","text":"Broad upturned nose"},{"scope":"EXACT","text":"Broad, upturned nose"},{"scope":"EXACT","text":"Increased breadth of nasal tip"},{"scope":"EXACT","text":"Increased breadth of tip of nose"},{"scope":"EXACT","text":"Increased width of nasal tip"},{"scope":"EXACT","text":"Increased width of tip of nose"},{"scope":"EXACT","text":"Nasal tip, broad"},{"scope":"EXACT","text":"Nasal tip, wide"},{"scope":"EXACT","text":"Wide tip of nose"}]} +{"alt_ids":["HP:0005282"],"definition":"A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.","id":"HP:0000456","name":"Bifid nasal tip","obsolete":false,"parents":["HP:0000436"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bifid tip of nose"},{"scope":"EXACT","text":"Cleft nasal tip"},{"scope":"RELATED","text":"Cleft tip of nose"},{"scope":"RELATED","text":"Notched nasal tip"},{"scope":"RELATED","text":"Notched tip of nose"}]} +{"alt_ids":[],"definition":"Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.","id":"HP:0000457","name":"Depressed nasal ridge","obsolete":false,"parents":["HP:0011119"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Depressed dorsum of nose"},{"scope":"EXACT","text":"Depressed nasal dorsum"},{"scope":"EXACT","text":"Flat dorsum of nose"},{"scope":"EXACT","text":"Flat nasal dorsum"},{"scope":"EXACT","text":"Flat nose"},{"scope":"EXACT","text":"Recessed dorsum of nose"},{"scope":"EXACT","text":"Recessed nasal dorsum"},{"scope":"EXACT","text":"Recessed nasal ridge"},{"scope":"EXACT","text":"Retruded dorsum of nose"},{"scope":"EXACT","text":"Retruded nasal dorsum"},{"scope":"EXACT","text":"Retruded nasal ridge"}]} +{"alt_ids":[],"definition":"An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.","id":"HP:0000458","name":"Anosmia","obsolete":false,"parents":["HP:0004408"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Loss of smell"},{"scope":"EXACT","text":"Lost smell"}]} +{"alt_ids":[],"definition":"Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.","id":"HP:0000460","name":"Narrow nose","obsolete":false,"parents":["HP:0005105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased nasal breadth"},{"scope":"EXACT","text":"Decreased nasal width"},{"scope":"EXACT","text":"Narrow nose"},{"scope":"EXACT","text":"Thin nose"}]} +{"alt_ids":["HP:0000427","HP:0000435","HP:0000441","HP:0004495"],"definition":"Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).","id":"HP:0000463","name":"Anteverted nares","obsolete":false,"parents":["HP:0000429","HP:0005288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anteverted nose"},{"scope":"EXACT","text":"Anteverted nostrils"},{"scope":"EXACT","text":"Nasal tip, upturned"},{"scope":"EXACT","text":"Nostrils anteverted"},{"scope":"EXACT","text":"Upturned nares"},{"scope":"EXACT","text":"Upturned nasal tip"},{"scope":"RELATED","text":"Upturned nasal tips"},{"scope":"EXACT","text":"Upturned nose"},{"scope":"EXACT","text":"Upturned nostrils"}]} +{"alt_ids":[],"definition":"An abnormality of the neck.","id":"HP:0000464","name":"Abnormality of the neck","obsolete":false,"parents":["HP:0000152"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the neck"},{"scope":"EXACT","text":"Anomaly of the neck"},{"scope":"NARROW","text":"Deformity of the neck"},{"scope":"NARROW","text":"Malformation of the neck"}]} +{"alt_ids":[],"definition":"Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.","id":"HP:0000465","name":"Webbed neck","obsolete":false,"parents":["HP:0025668"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neck webbing"},{"scope":"EXACT","text":"Pterygium colli"},{"scope":"EXACT","text":"Webbed neck"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000466","name":"Limited neck range of motion","obsolete":false,"parents":["HP:0005986"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Limited cervical range of motion"},{"scope":"EXACT","text":"Limited neck range of motion"}]} +{"alt_ids":[],"definition":"Decreased strength of the neck musculature.","id":"HP:0000467","name":"Neck muscle weakness","obsolete":false,"parents":["HP:0001324"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Flaccid neck"},{"scope":"EXACT","text":"Floppy neck"},{"scope":"EXACT","text":"Neck muscle weakness"}]} +{"alt_ids":[],"definition":"An increased amount of subcutaneous fat tissue around the neck.","id":"HP:0000468","name":"Increased adipose tissue around the neck","obsolete":false,"parents":["HP:0009126","HP:0025668"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased fat around the neck"}]} +{"alt_ids":["HP:0005992","HP:0200137"],"definition":"Diminished length of the neck.","id":"HP:0000470","name":"Short neck","obsolete":false,"parents":["HP:0003319","HP:0025668"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased length of neck"},{"scope":"EXACT","text":"Short neck"}]} +{"alt_ids":[],"definition":"Dysplasia affecting the vasculature of the gastrointestinal tract.","id":"HP:0000471","name":"Gastrointestinal angiodysplasia","obsolete":false,"parents":["HP:0004296"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"GI angiodysplasia"}]} +{"alt_ids":[],"definition":"Increased inferior-superior length of the neck.","id":"HP:0000472","name":"Long neck","obsolete":false,"parents":["HP:0025668"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cervical elongation"},{"scope":"EXACT","text":"Elongated neck"},{"scope":"EXACT","text":"Increased cervical length"},{"scope":"EXACT","text":"Increased length of neck"},{"scope":"EXACT","text":"Long neck"}]} +{"alt_ids":[],"definition":"Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.","id":"HP:0000473","name":"Torticollis","obsolete":false,"parents":["HP:0011006","HP:0011442","HP:0012179"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cervical dystonia"},{"scope":"EXACT","text":"Loxia"},{"scope":"EXACT","text":"Spasmodic torticollis"},{"scope":"EXACT","text":"Wry neck"}]} +{"alt_ids":["HP:0000477"],"definition":"A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome.","id":"HP:0000474","name":"Thickened nuchal skin fold","obsolete":false,"parents":["HP:0011425","HP:0025667"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excess nuchal skin"},{"scope":"EXACT","text":"Increased nuchal fold"},{"scope":"EXACT","text":"Increased nuchal fold thickness"},{"scope":"EXACT","text":"Thick nuchal fold"},{"scope":"EXACT","text":"Thickened nuchal skin"},{"scope":"EXACT","text":"Thickened skin folds of neck"},{"scope":"EXACT","text":"Thickened skin over the neck"}]} +{"alt_ids":[],"definition":"Increased side-to-side width of the neck.","id":"HP:0000475","name":"Broad neck","obsolete":false,"parents":["HP:0025668"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad neck"},{"scope":"EXACT","text":"Increased width of neck"},{"scope":"RELATED","text":"Thick neck"},{"scope":"EXACT","text":"Wide neck"}]} +{"alt_ids":[],"definition":"A cystic lymphatic lesion of the neck.","id":"HP:0000476","name":"Cystic hygroma","obsolete":false,"parents":["HP:0025668"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cystic hygroma of the neck"}]} +{"alt_ids":[],"definition":"Any abnormality of the eye, including location, spacing, and intraocular abnormalities.","id":"HP:0000478","name":"Abnormality of the eye","obsolete":false,"parents":["HP:0000118"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal eye"},{"scope":"EXACT","text":"Abnormality of the eye"},{"scope":"RELATED","text":"Eye disease"}]} +{"alt_ids":["HP:0007901","HP:0007938"],"definition":"A structural abnormality of the retina.","id":"HP:0000479","name":"Abnormal retinal morphology","obsolete":false,"parents":["HP:0001098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal retina"},{"scope":"EXACT","text":"Abnormality of the retina"},{"scope":"EXACT","text":"Anomaly of the retina"},{"scope":"EXACT","text":"Retina issue"},{"scope":"RELATED","text":"Retinal disease"}]} +{"alt_ids":["HP:0007808"],"definition":"A notch or cleft of the retina or choroid, located vertically below the optic disc.","id":"HP:0000480","name":"Retinal coloboma","obsolete":false,"parents":["HP:0000479","HP:0000589"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hole in the back of the eye"}]} +{"alt_ids":["HP:0007771","HP:0007972"],"definition":"Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.","id":"HP:0000481","name":"Abnormal cornea morphology","obsolete":false,"parents":["HP:0004328"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the cornea"},{"scope":"EXACT","text":"Corneal abnormalities"},{"scope":"EXACT","text":"Corneal abnormality"},{"scope":"RELATED","text":"Cornela disease"}]} +{"alt_ids":["HP:0100688"],"definition":"A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.","id":"HP:0000482","name":"Microcornea","obsolete":false,"parents":["HP:0001120"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cornea of eye less than 10mm in diameter"},{"scope":"EXACT","text":"Decreased corneal diameter"}]} +{"alt_ids":[],"definition":"A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.","id":"HP:0000483","name":"Astigmatism","obsolete":false,"parents":["HP:0000539","HP:0100691"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal curving of the cornea or lens of the eye"},{"scope":"EXACT","text":"Astigmatism"}]} +{"alt_ids":[],"definition":"A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error.","id":"HP:0000484","name":"Hyperopic astigmatism","obsolete":false,"parents":["HP:0000483"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007660"],"definition":"An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.","id":"HP:0000485","name":"Megalocornea","obsolete":false,"parents":["HP:0001120"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anterior megalophthalmos"},{"scope":"EXACT","text":"Enlarged cornea"},{"scope":"EXACT","text":"Increased corneal diameter"},{"scope":"EXACT","text":"Macrocornea"}]} +{"alt_ids":["HP:0000487"],"definition":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","id":"HP:0000486","name":"Strabismus","obsolete":false,"parents":["HP:0000549"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cross-eyed"},{"scope":"EXACT","text":"Squint"},{"scope":"EXACT","text":"Squint eyes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000487","name":"obsolete Congenital strabismus","obsolete":true,"parents":[],"replaced_by":["HP:0000486"],"synonyms":[]} +{"alt_ids":[],"definition":"Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.","id":"HP:0000488","name":"Retinopathy","obsolete":false,"parents":["HP:0000479"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Noninflammatory retina disease"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000489","name":"obsolete Abnormality of globe location or size","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0000663"],"definition":"An eye that is more deeply recessed into the plane of the face than is typical.","id":"HP:0000490","name":"Deeply set eye","obsolete":false,"parents":["HP:0100886"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deep set eye"},{"scope":"EXACT","text":"Deep-set eyes"},{"scope":"EXACT","text":"Deeply set eye"},{"scope":"EXACT","text":"Enophthalmos"},{"scope":"EXACT","text":"Ocular depression"},{"scope":"EXACT","text":"Sunken eye"},{"scope":"EXACT","text":"Sunken eyes"}]} +{"alt_ids":[],"definition":"Inflammation of the cornea.","id":"HP:0000491","name":"Keratitis","obsolete":false,"parents":["HP:0011495","HP:0100533"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Corneal inflammation"}]} +{"alt_ids":["HP:0000285"],"definition":"An abnormality of the eyelids.","id":"HP:0000492","name":"Abnormal eyelid morphology","obsolete":false,"parents":["HP:0030669"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the eyelid"},{"scope":"EXACT","text":"Abnormality of the eyelids"}]} +{"alt_ids":[],"definition":"An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina.","id":"HP:0000493","name":"Abnormal foveal morphology","obsolete":false,"parents":["HP:0001103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the fovea"}]} +{"alt_ids":["HP:0007714","HP:0007908"],"definition":"The palpebral fissure inclination is more than two standard deviations below the mean.","id":"HP:0000494","name":"Downslanted palpebral fissures","obsolete":false,"parents":["HP:0200006"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Antimongoloid eye slant"},{"scope":"EXACT","text":"Antimongoloid slant of palpebral fissures"},{"scope":"EXACT","text":"Antimongoloid slanted palpebral fissures"},{"scope":"EXACT","text":"Down slanting palpebral fissures"},{"scope":"EXACT","text":"Down-slanted palpebral fissures"},{"scope":"EXACT","text":"Down-slanting palpebral fissure"},{"scope":"EXACT","text":"Down-slanting palpebral fissures"},{"scope":"EXACT","text":"Downslanting palpebral fissure"},{"scope":"EXACT","text":"Downslanting palpebral fissures"},{"scope":"EXACT","text":"Downward slanted palpebral fissures"},{"scope":"EXACT","text":"Downward slanting of the opening between the eyelids"},{"scope":"EXACT","text":"Downward slanting palpebral fissures"},{"scope":"EXACT","text":"Downward-slanting palpebral fissures"},{"scope":"EXACT","text":"Palpebral fissures down-slanted"}]} +{"alt_ids":["HP:0007674","HP:0007749"],"definition":"The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.","id":"HP:0000495","name":"Recurrent corneal erosions","obsolete":false,"parents":["HP:0200020"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Corneal erosions, recurrent"},{"scope":"RELATED","text":"Epithelial corneal erosions"},{"scope":"EXACT","text":"Recurrent breakdown of clear protective layer of eye"},{"scope":"EXACT","text":"Recurrent corneal ulceration"},{"scope":"RELATED","text":"Recurrent corneal ulcerations"}]} +{"alt_ids":["HP:0006860"],"definition":"An abnormality in voluntary or involuntary eye movements or their control.","id":"HP:0000496","name":"Abnormality of eye movement","obsolete":false,"parents":["HP:0012373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal extraocular movement"},{"scope":"EXACT","text":"Abnormal extraocular movements"},{"scope":"EXACT","text":"Abnormal eye motility"},{"scope":"EXACT","text":"Abnormal eye movement"},{"scope":"EXACT","text":"Abnormal eye movements"},{"scope":"EXACT","text":"Abnormal motility of the globe of the eye"},{"scope":"EXACT","text":"Abnormal movement of the globe of the eye"},{"scope":"EXACT","text":"Abnormal ocular movements"},{"scope":"EXACT","text":"Abnormality of eye movement"},{"scope":"EXACT","text":"Eye movement abnormalities"},{"scope":"EXACT","text":"Eye movement issue"},{"scope":"EXACT","text":"Ocular movement abnormalities"},{"scope":"EXACT","text":"Oculomotor abnormalities"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000497","name":"Globe retraction and deviation on abduction","obsolete":false,"parents":["HP:0011347"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the eyelids.","id":"HP:0000498","name":"Blepharitis","obsolete":false,"parents":["HP:0000492","HP:0100533"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cellulitis of eyelids"},{"scope":"EXACT","text":"Inflammation of eyelids"}]} +{"alt_ids":["HP:0004530"],"definition":"An abnormality of the eyelashes.","id":"HP:0000499","name":"Abnormal eyelash morphology","obsolete":false,"parents":["HP:0000492","HP:0001595"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal eyelashes"},{"scope":"EXACT","text":"Abnormality of the eyelashes"},{"scope":"EXACT","text":"Eyelash abnormality"}]} +{"alt_ids":[],"definition":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","id":"HP:0000501","name":"Glaucoma","obsolete":false,"parents":["HP:0012373"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the conjunctiva.","id":"HP:0000502","name":"Abnormal conjunctiva morphology","obsolete":false,"parents":["HP:0030669"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of an increased number of twists and turns of the conjunctival blood vessels.","id":"HP:0000503","name":"Tortuosity of conjunctival vessels","obsolete":false,"parents":["HP:0008054"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormality of eyesight (visual perception).","id":"HP:0000504","name":"Abnormality of vision","obsolete":false,"parents":["HP:0012373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of sight"},{"scope":"EXACT","text":"Abnormality of vision"},{"scope":"EXACT","text":"Vision issue"}]} +{"alt_ids":["HP:0000516","HP:0000566","HP:0007758","HP:0007860","HP:0007983"],"definition":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","id":"HP:0000505","name":"Visual impairment","obsolete":false,"parents":["HP:0000504"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Impaired vision"},{"scope":"EXACT","text":"Loss of eyesight"},{"scope":"EXACT","text":"Poor vision"},{"scope":"EXACT","text":"Visual impairment"}]} +{"alt_ids":[],"definition":"Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.","id":"HP:0000506","name":"Telecanthus","obsolete":false,"parents":["HP:0000492"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Corners of eye widely separated"},{"scope":"EXACT","text":"Dystopia canthorum"},{"scope":"EXACT","text":"Increased distance between medial canthi"},{"scope":"EXACT","text":"Increased inner canthal distance"},{"scope":"EXACT","text":"Increased intercanthal distance"}]} +{"alt_ids":[],"definition":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","id":"HP:0000508","name":"Ptosis","obsolete":false,"parents":["HP:0012373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blepharoptosis"},{"scope":"EXACT","text":"Drooping upper eyelid"},{"scope":"RELATED","text":"Eye drop"},{"scope":"EXACT","text":"Eyelid ptosis"},{"scope":"EXACT","text":"Palpebral ptosis"}]} +{"alt_ids":[],"definition":"Inflammation of the conjunctiva.","id":"HP:0000509","name":"Conjunctivitis","obsolete":false,"parents":["HP:0000502","HP:0025337","HP:0100533"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Conjunctivitis, recurrent"},{"scope":"EXACT","text":"Pink eye"}]} +{"alt_ids":["HP:0000547","HP:0001127","HP:0007635","HP:0007645","HP:0007742","HP:0007816","HP:0007826","HP:0007927","HP:0008036"],"definition":"An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.","id":"HP:0000510","name":"Rod-cone dystrophy","obsolete":false,"parents":["HP:0000556"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Retinitis pigmentosa"},{"scope":"EXACT","text":"Rod cone dystrophy"}]} +{"alt_ids":[],"definition":"A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.","id":"HP:0000511","name":"Vertical supranuclear gaze palsy","obsolete":false,"parents":["HP:0000605"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"VSGP"},{"scope":"EXACT","text":"Vertical gaze palsy"}]} +{"alt_ids":["HP:0003285"],"definition":"Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.","id":"HP:0000512","name":"Abnormal electroretinogram","obsolete":false,"parents":["HP:0030453"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal ERG"},{"scope":"EXACT","text":"Abnormal electroretinography"},{"scope":"EXACT","text":"ERG abnormal"}]} +{"alt_ids":[],"definition":"An abnormally slow velocity of the saccadic eye movements.","id":"HP:0000514","name":"Slow saccadic eye movements","obsolete":false,"parents":["HP:0000570"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Slow eye movements"},{"scope":"EXACT","text":"Slow saccades"},{"scope":"EXACT","text":"Slow visual tracking"}]} +{"alt_ids":[],"definition":"An abnormality of the lens.","id":"HP:0000517","name":"Abnormal lens morphology","obsolete":false,"parents":["HP:0004328"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the lens"},{"scope":"RELATED","text":"Lens disease"},{"scope":"EXACT","text":"Lens issue"}]} +{"alt_ids":["HP:0001113","HP:0007825","HP:0010700"],"definition":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","id":"HP:0000518","name":"Cataract","obsolete":false,"parents":["HP:0000517"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cataracts"},{"scope":"EXACT","text":"Clouding of the lens of the eye"},{"scope":"EXACT","text":"Cloudy lens"},{"scope":"EXACT","text":"Lens opacities"},{"scope":"EXACT","text":"Lens opacity"}]} +{"alt_ids":["HP:0001108","HP:0007679","HP:0007692","HP:0007726","HP:0007788"],"definition":"A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.","id":"HP:0000519","name":"Developmental cataract","obsolete":false,"parents":["HP:0000518","HP:0007700"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bilateral congenital cataracts"},{"scope":"EXACT","text":"Cataract, congenital"},{"scope":"EXACT","text":"Clouding of the lens of the eye at birth"},{"scope":"EXACT","text":"Congenital cataract"},{"scope":"EXACT","text":"Congenital cataracts"},{"scope":"EXACT","text":"Congenital cataracts, bilateral"}]} +{"alt_ids":["HP:0000536","HP:0000644","HP:0000645","HP:0007711","HP:0007870"],"definition":"An eye that is protruding anterior to the plane of the face to a greater extent than is typical.","id":"HP:0000520","name":"Proptosis","obsolete":false,"parents":["HP:0100886"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anterior bulging of the globe"},{"scope":"EXACT","text":"Anterior bulging of the globe of eye"},{"scope":"EXACT","text":"Bulging eye"},{"scope":"EXACT","text":"Exophthalmos"},{"scope":"EXACT","text":"Eyeballs bulging out"},{"scope":"EXACT","text":"Ocular proptosis"},{"scope":"EXACT","text":"Prominent eyes"},{"scope":"EXACT","text":"Prominent globes"},{"scope":"EXACT","text":"Protruding eyes"},{"scope":"EXACT","text":"Protrusio bulbi"}]} +{"alt_ids":[],"definition":"The complete absence of aqueous tear production. Typically, this is clinically measured by a Schirmer I test result of 0 millimeters of wetting on the filter paper strip after 5 minutes.","id":"HP:0000522","name":"Alacrima","obsolete":false,"parents":["HP:0000633"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"0 mm wetting on Schirmer I test"},{"scope":"EXACT","text":"Absence of tears in the eyes"},{"scope":"EXACT","text":"Absent lacrimal fluids"},{"scope":"EXACT","text":"Absent lacrimation on Schirmer I test"},{"scope":"EXACT","text":"Absent tear flow on Schirmer I test"},{"scope":"EXACT","text":"Absent tear secretion"},{"scope":"EXACT","text":"Absolute aqueous tear deficiency on Schirmer I test"}]} +{"alt_ids":["HP:0001490","HP:0007978"],"definition":"A cataract that affects the region of the lens directly beneath the capsule of the lens.","id":"HP:0000523","name":"Subcapsular cataract","obsolete":false,"parents":["HP:0000518"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Subcapsular cataracts"},{"scope":"EXACT","text":"Subcapsular lenticular cataracts"},{"scope":"EXACT","text":"Subcapsular opacities"}]} +{"alt_ids":[],"definition":"The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.","id":"HP:0000524","name":"Conjunctival telangiectasia","obsolete":false,"parents":["HP:0008054","HP:0100579"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Conjunctival telangiectases"},{"scope":"EXACT","text":"Small dilated blood vessels near membrane covering front of eye and eyelids"},{"scope":"EXACT","text":"Telangiectasia, conjunctival"}]} +{"alt_ids":[],"definition":"An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil.","id":"HP:0000525","name":"Abnormality iris morphology","obsolete":false,"parents":["HP:0000553","HP:0004328"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the iris"}]} +{"alt_ids":["HP:0011498"],"definition":"Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.","id":"HP:0000526","name":"Aniridia","obsolete":false,"parents":["HP:0008053"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent iris"}]} +{"alt_ids":["HP:0000500"],"definition":"Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).","id":"HP:0000527","name":"Long eyelashes","obsolete":false,"parents":["HP:0000499"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ciliary trichomegaly"},{"scope":"EXACT","text":"Eyelash trichomegaly"},{"scope":"EXACT","text":"Increased length of eyelashes"},{"scope":"EXACT","text":"Long eyelashes"},{"scope":"EXACT","text":"Unusually long eyelashes"}]} +{"alt_ids":["HP:0001485","HP:0007664"],"definition":"Absence of the globe or eyeball.","id":"HP:0000528","name":"Anophthalmia","obsolete":false,"parents":["HP:0008056","HP:0100887"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of eyeballs"},{"scope":"EXACT","text":"Absence of globes of eyes"},{"scope":"EXACT","text":"Anophthalmia, clinical"},{"scope":"EXACT","text":"Clinical anophthalmia, unilateral/bilateral"},{"scope":"EXACT","text":"Failure of development of eyeball"},{"scope":"EXACT","text":"Missing eyeball"},{"scope":"EXACT","text":"Missing globe of eye"},{"scope":"EXACT","text":"No eyeball"},{"scope":"EXACT","text":"No globe of eye"},{"scope":"EXACT","text":"Ocular absence"}]} +{"alt_ids":["HP:0000560","HP:0007735","HP:0007753","HP:0007967"],"definition":"A reduction of previously attained ability to see.","id":"HP:0000529","name":"Progressive visual loss","obsolete":false,"parents":["HP:0000572"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Decreased visual acuity, progressive"},{"scope":"EXACT","text":"Loss of visual acuity"},{"scope":"EXACT","text":"Progressive loss of vision"},{"scope":"EXACT","text":"Progressive vision loss"},{"scope":"EXACT","text":"Progressive visual acuity loss"},{"scope":"EXACT","text":"Progressive visual impairment"},{"scope":"EXACT","text":"Slowly progressive visual loss"},{"scope":"EXACT","text":"Vision loss, progressive"},{"scope":"EXACT","text":"Visual loss, progressive"}]} +{"alt_ids":["HP:0007760"],"definition":"Refractile, glittering, or needle-shaped particles said to resemble crystals and located within the corneal epithelium and/or stroma, visible on slit-lamp examination, resulting from the focal accumulation of lipid, protein, or other metabolic material.","id":"HP:0000531","name":"Corneal crystals","obsolete":false,"parents":["HP:0007759"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Corneal deposits"}]} +{"alt_ids":["HP:0001145","HP:0007888"],"definition":"An abnormality of the choroid and retina.","id":"HP:0000532","name":"Abnormal chorioretinal morphology","obsolete":false,"parents":["HP:0000479","HP:0000610"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chorioretinal abnormality"}]} +{"alt_ids":["HP:0001150","HP:0007884","HP:0007912","HP:0007918","HP:0007931","HP:0007945","HP:0200065"],"definition":"Atrophy (wasting) of the choroid and retinal layers of the fundus.","id":"HP:0000533","name":"Chorioretinal atrophy","obsolete":false,"parents":["HP:0000532"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chorioretinal degeneration"},{"scope":"EXACT","text":"Chorioretinal thinning"}]} +{"alt_ids":[],"definition":"An abnormality of the eyebrow.","id":"HP:0000534","name":"Abnormal eyebrow morphology","obsolete":false,"parents":["HP:0001595","HP:0030669"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the eyebrow"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000535","name":"obsolete Sparse and thin eyebrow","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus.","id":"HP:0000537","name":"Epicanthus inversus","obsolete":false,"parents":["HP:0000286"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Apparent optic disc swelling in the absence of increased intracranial pressure.","id":"HP:0000538","name":"Pseudopapilledema","obsolete":false,"parents":["HP:0012795"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.","id":"HP:0000539","name":"Abnormality of refraction","obsolete":false,"parents":["HP:0012373"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.","id":"HP:0000540","name":"Hypermetropia","obsolete":false,"parents":["HP:0000539"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Farsightedness"},{"scope":"EXACT","text":"Hyperopia"},{"scope":"EXACT","text":"Long-sightedness"}]} +{"alt_ids":["HP:0007864","HP:0008021"],"definition":"Separation of the inner layers of the retina (neural retina) from the pigment epithelium.","id":"HP:0000541","name":"Retinal detachment","obsolete":false,"parents":["HP:0000479"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Detached retina"},{"scope":"EXACT","text":"Retinal detachment"}]} +{"alt_ids":[],"definition":"Reduced ability to move the eye in the direction of the nose.","id":"HP:0000542","name":"Impaired ocular adduction","obsolete":false,"parents":["HP:0000496"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001148","HP:0001484"],"definition":"A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.","id":"HP:0000543","name":"Optic disc pallor","obsolete":false,"parents":["HP:0012795"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Disc pallor"},{"scope":"EXACT","text":"Pale optic disc"},{"scope":"RELATED","text":"Pale optic discs"}]} +{"alt_ids":["HP:0007762"],"definition":"Paralysis of the external ocular muscles.","id":"HP:0000544","name":"External ophthalmoplegia","obsolete":false,"parents":["HP:0000602"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CPEO"},{"scope":"EXACT","text":"Chronic progressive external ophthalmoplegia"},{"scope":"EXACT","text":"Ophthalmoplegia externa"},{"scope":"EXACT","text":"Paralysis or weakness of muscles within or surrounding outer part of eye"},{"scope":"EXACT","text":"Progressive paralysis or weakness of muscles of eye motility"},{"scope":"EXACT","text":"Progressive paralysis or weakness of muscles of eye movement"}]} +{"alt_ids":["HP:0001110","HP:0007847","HP:0008012"],"definition":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","id":"HP:0000545","name":"Myopia","obsolete":false,"parents":["HP:0000539"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Close sighted"},{"scope":"EXACT","text":"Near sighted"},{"scope":"EXACT","text":"Near sightedness"},{"scope":"EXACT","text":"Nearsightedness"}]} +{"alt_ids":["HP:0007632","HP:0007790","HP:0007863","HP:0007893","HP:0008035","HP:0008506"],"definition":"A nonspecific term denoting progressive loss of the retinal pigment epithelium (RPE) and/or neurosensory retinal cells.","id":"HP:0000546","name":"Retinal degeneration","obsolete":false,"parents":["HP:0000479"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Retina degeneration"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000547","name":"obsolete Tapetoretinal degeneration","obsolete":true,"parents":[],"replaced_by":["HP:0000510"],"synonyms":[{"scope":"EXACT","text":"Retinotapetal degeneration"}]} +{"alt_ids":["HP:0008157"],"definition":null,"id":"HP:0000548","name":"Cone/cone-rod dystrophy","obsolete":false,"parents":["HP:0000556"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone rod dystrophy"},{"scope":"EXACT","text":"Cone-rod retinal dystrophy"}]} +{"alt_ids":[],"definition":"Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.","id":"HP:0000549","name":"Abnormal conjugate eye movement","obsolete":false,"parents":["HP:0000496"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disconjugate eye movements"}]} +{"alt_ids":["HP:0008042"],"definition":"Lack of any response to stimulation upon electroretinography.","id":"HP:0000550","name":"Undetectable electroretinogram","obsolete":false,"parents":["HP:0000512"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abolished electroretinogram"},{"scope":"EXACT","text":"Absent electroretinogram"},{"scope":"EXACT","text":"Extinction of electroretinogram"},{"scope":"EXACT","text":"Extinguished electroretinogram"},{"scope":"EXACT","text":"No light-evoked response on electroretinogram"},{"scope":"EXACT","text":"Undetectable ERG"}]} +{"alt_ids":[],"definition":"An anomaly in the ability to discriminate between or recognize colors.","id":"HP:0000551","name":"Color vision defect","obsolete":false,"parents":["HP:0000504"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal color vision"},{"scope":"EXACT","text":"Abnormal colour vision"},{"scope":"EXACT","text":"Abnormality of color vision"},{"scope":"EXACT","text":"Abnormality of colour vision"},{"scope":"RELATED","text":"Color vision defect, severe"},{"scope":"RELATED","text":"Color vision defects"},{"scope":"EXACT","text":"Colour vision defect"},{"scope":"RELATED","text":"Colour vision defect, severe"},{"scope":"RELATED","text":"Colour vision defects"},{"scope":"EXACT","text":"Disturbed color vision"},{"scope":"EXACT","text":"Disturbed colour vision"},{"scope":"RELATED","text":"Loss in color vision"},{"scope":"RELATED","text":"Loss in colour vision"}]} +{"alt_ids":[],"definition":"Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment.","id":"HP:0000552","name":"Tritanomaly","obsolete":false,"parents":["HP:0011519"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blue yellow color blindness"},{"scope":"EXACT","text":"Blue yellow colour blindness"},{"scope":"EXACT","text":"Blue-yellow dyschromatopsia"},{"scope":"RELATED","text":"Blue/yellow color vision defect"},{"scope":"RELATED","text":"Blue/yellow colour vision defect"},{"scope":"EXACT","text":"Dyschromatopsia, blue-yellow"}]} +{"alt_ids":[],"definition":"An abnormality of the uvea, the vascular layer of the eyeball.","id":"HP:0000553","name":"Abnormal uvea morphology","obsolete":false,"parents":["HP:0012372"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the uvea"}]} +{"alt_ids":[],"definition":"Inflammation of one or all portions of the uveal tract.","id":"HP:0000554","name":"Uveitis","obsolete":false,"parents":["HP:0000553","HP:0100533"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal white reflection from the pupil rather than the usual black reflection.","id":"HP:0000555","name":"Leukocoria","obsolete":false,"parents":["HP:0000615"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Leukokoria"},{"scope":"EXACT","text":"White pupillary reflex"}]} +{"alt_ids":["HP:0007736","HP:0007910","HP:0007974","HP:0007982","HP:0030635"],"definition":"Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.","id":"HP:0000556","name":"Retinal dystrophy","obsolete":false,"parents":["HP:0000479"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Breakdown of light-sensitive cells in back of eye"}]} +{"alt_ids":[],"definition":"Diffusely large eye (with megalocornea) associated with glaucoma.","id":"HP:0000557","name":"Buphthalmos","obsolete":false,"parents":["HP:0001087","HP:0001090"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged eyeball"}]} +{"alt_ids":[],"definition":"A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities.","id":"HP:0000558","name":"Rieger anomaly","obsolete":false,"parents":["HP:0007676"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0000559","name":"Corneal scarring","obsolete":false,"parents":["HP:0007957","HP:0100699"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002288","HP:0004516","HP:0004539","HP:0007926"],"definition":"Lack of eyelashes.","id":"HP:0000561","name":"Absent eyelashes","obsolete":false,"parents":["HP:0002550","HP:0200102"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent eyelashes"},{"scope":"NARROW","text":"Agenesis of eyelashes"},{"scope":"NARROW","text":"Aplasia of eyelashes"},{"scope":"EXACT","text":"Atrichia of eyelashes"},{"scope":"EXACT","text":"Failure of development of eyelashes"}]} +{"alt_ids":[],"definition":"A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.","id":"HP:0000563","name":"Keratoconus","obsolete":false,"parents":["HP:0100689","HP:0100692"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bulging cornea"},{"scope":"EXACT","text":"Conical cornea"}]} +{"alt_ids":["HP:0007729"],"definition":"A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct.","id":"HP:0000564","name":"Lacrimal duct atresia","obsolete":false,"parents":["HP:0011481"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Imperforate nasolacrimal ducts"},{"scope":"EXACT","text":"Nasolacrimal duct atresia"},{"scope":"EXACT","text":"Unopened tear duct"}]} +{"alt_ids":[],"definition":"A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.","id":"HP:0000565","name":"Esotropia","obsolete":false,"parents":["HP:0020045","HP:0032012"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inward turning cross eyed"}]} +{"alt_ids":["HP:0000611","HP:0007718","HP:0007784","HP:0007956"],"definition":"Absence of a region of the retina, retinal pigment epithelium, and choroid.","id":"HP:0000567","name":"Chorioretinal coloboma","obsolete":false,"parents":["HP:0000532","HP:0000589"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Birth defect that causes a hole in the innermost layer at the back of the eye"},{"scope":"RELATED","text":"Choroid coloboma"},{"scope":"RELATED","text":"Choroidal coloboma"},{"scope":"EXACT","text":"Choroidoretinal coloboma"},{"scope":"RELATED","text":"Coloboma of choroid"}]} +{"alt_ids":["HP:0007996"],"definition":"A developmental anomaly characterized by abnormal smallness of one or both eyes.","id":"HP:0000568","name":"Microphthalmia","obsolete":false,"parents":["HP:0008056","HP:0100887"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormally small eyeball"},{"scope":"EXACT","text":"Abnormally small globe of eye"},{"scope":"BROAD","text":"Decreased size of eyeball"},{"scope":"BROAD","text":"Decreased size of globe of eye"},{"scope":"EXACT","text":"Microphthalmos"},{"scope":"RELATED","text":"Nanophthalmos"}]} +{"alt_ids":["HP:0000604"],"definition":"An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements.","id":"HP:0000570","name":"Abnormal saccadic eye movements","obsolete":false,"parents":["HP:0000496"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of saccadic eye movements"},{"scope":"RELATED","text":"Impaired saccades"}]} +{"alt_ids":[],"definition":"Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.","id":"HP:0000571","name":"Hypometric saccades","obsolete":false,"parents":["HP:0000570"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","id":"HP:0000572","name":"Visual loss","obsolete":false,"parents":["HP:0000505"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Loss of vision"},{"scope":"EXACT","text":"Vision loss"},{"scope":"EXACT","text":"Visual loss"}]} +{"alt_ids":[],"definition":"Bleeding located within the retina. Retinal hemorrhages range from the smallest dot and blot hemorrhage to massive sub-hyaloid hemorrhage.","id":"HP:0000573","name":"Retinal hemorrhage","obsolete":false,"parents":["HP:0000479","HP:0011885","HP:0031803"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Retinal bleeding"},{"scope":"EXACT","text":"Retinal haemorrhage"},{"scope":"EXACT","text":"Retinal haemorrhages"},{"scope":"EXACT","text":"Retinal hemorrhages"}]} +{"alt_ids":["HP:0004546"],"definition":"Increased density/number and/or increased diameter of eyebrow hairs.","id":"HP:0000574","name":"Thick eyebrow","obsolete":false,"parents":["HP:0000534"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bushy eyebrows"},{"scope":"EXACT","text":"Dense eyebrow"},{"scope":"EXACT","text":"Heavy eyebrows"},{"scope":"EXACT","text":"Hypertrichosis of the eyebrow"},{"scope":"RELATED","text":"Hypertrichosis of the eyebrows"},{"scope":"EXACT","text":"Prominent eyebrows"},{"scope":"EXACT","text":"Thick eyebrow"},{"scope":"EXACT","text":"Thick eyebrows"}]} +{"alt_ids":[],"definition":"A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.","id":"HP:0000575","name":"Scotoma","obsolete":false,"parents":["HP:0001123"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Blind spot"}]} +{"alt_ids":[],"definition":"A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape.","id":"HP:0000576","name":"Centrocecal scotoma","obsolete":false,"parents":["HP:0000575"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008033"],"definition":"A form of strabismus with one or both eyes deviated outward.","id":"HP:0000577","name":"Exotropia","obsolete":false,"parents":["HP:0020049","HP:0032012"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Outward facing eye ball"}]} +{"alt_ids":[],"definition":"Blockage of the lacrimal duct.","id":"HP:0000579","name":"Nasolacrimal duct obstruction","obsolete":false,"parents":["HP:0011481"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blocked tear duct"},{"scope":"EXACT","text":"Lacrimal duct obstruction"}]} +{"alt_ids":["HP:0001146","HP:0007702","HP:0007821","HP:0007852","HP:0007869","HP:0007934","HP:0007961","HP:0008010"],"definition":"An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.","id":"HP:0000580","name":"Pigmentary retinopathy","obsolete":false,"parents":["HP:0007703"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pigmentary retinal deposits"},{"scope":"EXACT","text":"Retinal pigment clumping"},{"scope":"EXACT","text":"Retinal pigmentary clumping"},{"scope":"EXACT","text":"Retinal pigmentary degeneration"}]} +{"alt_ids":["HP:0000507","HP:0000513"],"definition":"A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.","id":"HP:0000581","name":"Blepharophimosis","obsolete":false,"parents":["HP:0200007"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased width of palpebral fissure"},{"scope":"EXACT","text":"Narrow opening between the eyelids"}]} +{"alt_ids":[],"definition":"The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.","id":"HP:0000582","name":"Upslanted palpebral fissure","obsolete":false,"parents":["HP:0200006"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mongoloid slant"},{"scope":"RELATED","text":"Upslanted palpebral fissures"},{"scope":"EXACT","text":"Upslanting palpebral fissures"},{"scope":"EXACT","text":"Upward slanted palpebral fissures"},{"scope":"EXACT","text":"Upward slanting of palpebral fissures"},{"scope":"EXACT","text":"Upward slanting of the opening between the eyelids"},{"scope":"EXACT","text":"Upward slanting palpebral fissures"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000584","name":"Punctate corneal epithelial erosions","obsolete":false,"parents":["HP:0200020"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.","id":"HP:0000585","name":"Band keratopathy","obsolete":false,"parents":["HP:0011493"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Calcific band keratopathy"}]} +{"alt_ids":["HP:0002706"],"definition":"Reduced depth of the orbits associated with prominent-appearing ocular globes.","id":"HP:0000586","name":"Shallow orbits","obsolete":false,"parents":["HP:0000520","HP:3000030"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased depth of eye sockets"},{"scope":"EXACT","text":"Decreased depth of orbits"},{"scope":"EXACT","text":"Shallow eye sockets"},{"scope":"EXACT","text":"Small shallow orbits"}]} +{"alt_ids":[],"definition":"Abnormality of the optic nerve.","id":"HP:0000587","name":"Abnormal optic nerve morphology","obsolete":false,"parents":["HP:0001098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the optic nerve"},{"scope":"EXACT","text":"Optic nerve issue"},{"scope":"EXACT","text":"optic nerve abnormalities"}]} +{"alt_ids":["HP:0007997"],"definition":"A cleft of the optic nerve that extends inferiorly.","id":"HP:0000588","name":"Optic disc coloboma","obsolete":false,"parents":["HP:0000589","HP:0012795"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Coloboma of optic nerve"},{"scope":"EXACT","text":"Optic nerve coloboma"}]} +{"alt_ids":["HP:0007767","HP:0007995"],"definition":"A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.","id":"HP:0000589","name":"Coloboma","obsolete":false,"parents":["HP:0012372"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Notched pupil"},{"scope":"EXACT","text":"Ocular coloboma"},{"scope":"EXACT","text":"Ocular colobomas"}]} +{"alt_ids":["HP:0000562"],"definition":"Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades.","id":"HP:0000590","name":"Progressive external ophthalmoplegia","obsolete":false,"parents":["HP:0000544"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"External ophthalmoplegia, progressive"}]} +{"alt_ids":[],"definition":"An abnormality of the sclera.","id":"HP:0000591","name":"Abnormal sclera morphology","obsolete":false,"parents":["HP:0012372"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Abnormality of the outer white part of eyeball"},{"scope":"EXACT","text":"Abnormality of the sclera"}]} +{"alt_ids":[],"definition":"An abnormal bluish coloration of the sclera.","id":"HP:0000592","name":"Blue sclerae","obsolete":false,"parents":["HP:0000591"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Blue outer white part of eyeball"},{"scope":"EXACT","text":"Blue sclera"},{"scope":"EXACT","text":"Bluish sclerae"},{"scope":"EXACT","text":"Gray sclerae"},{"scope":"EXACT","text":"Grey sclerae"},{"scope":"EXACT","text":"Whites of eyes are a bluish-gray color"},{"scope":"EXACT","text":"Whites of eyes are a bluish-gray colour"}]} +{"alt_ids":[],"definition":"Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.","id":"HP:0000593","name":"Abnormal anterior chamber morphology","obsolete":false,"parents":["HP:0004328"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the anterior chamber"},{"scope":"EXACT","text":"Anterior chamber anomalies"},{"scope":"EXACT","text":"Ocular anterior chamber abnormality"}]} +{"alt_ids":["HP:0007756"],"definition":"Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.","id":"HP:0000594","name":"Shallow anterior chamber","obsolete":false,"parents":["HP:0000593"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007701","HP:0008044"],"definition":"Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.","id":"HP:0000597","name":"Ophthalmoparesis","obsolete":false,"parents":["HP:0000496"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extraocular muscle palsy"},{"scope":"EXACT","text":"Extraocular muscle paralysis"},{"scope":"EXACT","text":"Weakness of extraocular eye movement"},{"scope":"EXACT","text":"Weakness of muscles controlling eye movement"}]} +{"alt_ids":[],"definition":"An abnormality of the ear.","id":"HP:0000598","name":"Abnormality of the ear","obsolete":false,"parents":["HP:0000118"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the ear"},{"scope":"EXACT","text":"Ear anomaly"}]} +{"alt_ids":[],"definition":"An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not.","id":"HP:0000599","name":"Abnormality of the frontal hairline","obsolete":false,"parents":["HP:0000290","HP:0009553"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of hairline at front of head"},{"scope":"EXACT","text":"Abnormality of the frontal hairline"}]} +{"alt_ids":[],"definition":"An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.","id":"HP:0000600","name":"Abnormality of the pharynx","obsolete":false,"parents":["HP:0002087"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007877"],"definition":"Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).","id":"HP:0000601","name":"Hypotelorism","obsolete":false,"parents":["HP:0100886"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormally close eyes"},{"scope":"EXACT","text":"Closely spaced eyes"},{"scope":"EXACT","text":"Decreased distance between eye sockets"},{"scope":"EXACT","text":"Decreased distance between eyes"},{"scope":"EXACT","text":"Decreased interpupillary distance"},{"scope":"EXACT","text":"Decreased orbital separation"},{"scope":"EXACT","text":"Ocular hypotelorism"}]} +{"alt_ids":[],"definition":"Paralysis of one or more extraocular muscles that are responsible for eye movements.","id":"HP:0000602","name":"Ophthalmoplegia","obsolete":false,"parents":["HP:0000597"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eye muscle paralysis"},{"scope":"EXACT","text":"Paralysis of extraocular eye movement"}]} +{"alt_ids":[],"definition":"An area of depressed vision located at the point of fixation and that interferes with central vision.","id":"HP:0000603","name":"Central scotoma","obsolete":false,"parents":["HP:0000575"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Blind spot located at fixation point"},{"scope":"EXACT","text":"Central blind spot"},{"scope":"EXACT","text":"Central scotomata"}]} +{"alt_ids":[],"definition":"A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.","id":"HP:0000605","name":"Supranuclear gaze palsy","obsolete":false,"parents":["HP:0000549"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Supranuclear gaze paralysis"}]} +{"alt_ids":[],"definition":"An abnormality of the region situated around the orbit of the eye.","id":"HP:0000606","name":"Abnormality of the periorbital region","obsolete":false,"parents":["HP:0000271"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Abnormality of the region around the eye"},{"scope":"NARROW","text":"Abnormality of the region around the eye socket"},{"scope":"NARROW","text":"Anomaly of the periorbital region"},{"scope":"NARROW","text":"Deformity of the periorbital region"},{"scope":"NARROW","text":"Malformation of the periorbital region"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000607","name":"Periorbital wrinkles","obsolete":false,"parents":["HP:0000606","HP:0100678"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excess periorbital skin wrinkling"},{"scope":"EXACT","text":"Periorbital rhytids"},{"scope":"EXACT","text":"Periorbital wrinkling"},{"scope":"EXACT","text":"Wrinkles around the eyes"}]} +{"alt_ids":["HP:0007694","HP:0007868"],"definition":"A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.","id":"HP:0000608","name":"Macular degeneration","obsolete":false,"parents":["HP:0000546","HP:0001103"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007273"],"definition":"Underdevelopment of the optic nerve.","id":"HP:0000609","name":"Optic nerve hypoplasia","obsolete":false,"parents":["HP:0002977","HP:0008058"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Double ring sign"},{"scope":"EXACT","text":"Hypoplastic optic nerves"},{"scope":"EXACT","text":"Underdeveloped optic nerves"}]} +{"alt_ids":["HP:0001122","HP:0007757","HP:0025568"],"definition":"Any structural abnormality of the choroid (the posterior part of the uvea, the middle tunic of the eye, consisting mainly of blood vessels).","id":"HP:0000610","name":"Abnormal choroid morphology","obsolete":false,"parents":["HP:0000553","HP:0001098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the choroid"},{"scope":"RELATED","text":"Choroid disease"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000611","name":"obsolete Choroid coloboma","obsolete":true,"parents":[],"replaced_by":["HP:0000567"],"synonyms":[]} +{"alt_ids":["HP:0007744","HP:0007748"],"definition":"A coloboma of the iris.","id":"HP:0000612","name":"Iris coloboma","obsolete":false,"parents":["HP:0000525","HP:0000589"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cat eye"},{"scope":"EXACT","text":"Coloboma of iris"},{"scope":"EXACT","text":"Coloboma of the iris"},{"scope":"EXACT","text":"Keyhole iris"}]} +{"alt_ids":[],"definition":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","id":"HP:0000613","name":"Photophobia","obsolete":false,"parents":["HP:0000504","HP:5200058"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extreme sensitivity of the eyes to light"},{"scope":"EXACT","text":"Light hypersensitivity"},{"scope":"EXACT","text":"Photodysphoria"}]} +{"alt_ids":[],"definition":"An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity.","id":"HP:0000614","name":"Abnormal nasolacrimal system morphology","obsolete":false,"parents":["HP:0030669"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the nasolacrimal system"}]} +{"alt_ids":["HP:0008018","HP:0030960"],"definition":"An abnormality of the pupil.","id":"HP:0000615","name":"Abnormal pupil morphology","obsolete":false,"parents":["HP:0000525"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal pupillary morphology"},{"scope":"EXACT","text":"Abnormality of the pupil"},{"scope":"EXACT","text":"Pupillary abnormalities"},{"scope":"EXACT","text":"Pupillary abnormality"}]} +{"alt_ids":[],"definition":"Abnormal (non-physiological) constriction of the pupil.","id":"HP:0000616","name":"Miosis","obsolete":false,"parents":["HP:0007686"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Constricted pupils"},{"scope":"EXACT","text":"Pupillary constriction"}]} +{"alt_ids":["HP:0007671","HP:0008006"],"definition":"An abnormality of eye movement characterized by impaired smooth-pursuit eye movements.","id":"HP:0000617","name":"Abnormality of ocular smooth pursuit","obsolete":false,"parents":["HP:0000496"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal smooth pursuits"},{"scope":"EXACT","text":"Disrupted ocular pursuit movements"},{"scope":"EXACT","text":"Impaired smooth pursuit ocular movements"},{"scope":"EXACT","text":"Irregular visual pursuit movements"}]} +{"alt_ids":["HP:0007839"],"definition":"Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.","id":"HP:0000618","name":"Blindness","obsolete":false,"parents":["HP:0007663"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blindness"},{"scope":"RELATED","text":"Legal blindness"},{"scope":"EXACT","text":"Total vision loss"}]} +{"alt_ids":[],"definition":"Reduced ability to turn the eyes inward in order to focus on a nearby object.","id":"HP:0000619","name":"Impaired convergence","obsolete":false,"parents":["HP:0000549"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Convergence insufficiency"}]} +{"alt_ids":[],"definition":"Inflammation of the nasolacrimal sac.","id":"HP:0000620","name":"Dacryocystitis","obsolete":false,"parents":["HP:0000614"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dacrocystitis"},{"scope":"EXACT","text":"Infection of the lacrimal sac"}]} +{"alt_ids":[],"definition":"An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital.","id":"HP:0000621","name":"Entropion","obsolete":false,"parents":["HP:0000492"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Eyelid folded in"},{"scope":"EXACT","text":"Eyelid turned in"},{"scope":"RELATED","text":"Inverted eyelid"}]} +{"alt_ids":["HP:0007723"],"definition":"Lack of sharpness of vision resulting in the inability to see fine detail.","id":"HP:0000622","name":"Blurred vision","obsolete":false,"parents":["HP:0000504"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blurred vision"}]} +{"alt_ids":[],"definition":"A vertical gaze palsy with inability to direct the gaze of the eyes downwards.","id":"HP:0000623","name":"Supranuclear ophthalmoplegia","obsolete":false,"parents":["HP:0000602"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A short discontinuity of the margin of the lower or upper eyelid.","id":"HP:0000625","name":"Eyelid coloboma","obsolete":false,"parents":["HP:0011226"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cleft eyelid"},{"scope":"EXACT","text":"Full thickness defect of the eyelid"},{"scope":"EXACT","text":"Notched eyelid"}]} +{"alt_ids":["HP:0100740"],"definition":"A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.","id":"HP:0000627","name":"Posterior embryotoxon","obsolete":false,"parents":["HP:0008048"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Embryotoxon"}]} +{"alt_ids":[],"definition":"Increase in periorbital soft tissue.","id":"HP:0000629","name":"Periorbital fullness","obsolete":false,"parents":["HP:0000606"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Fullness around the eyes"},{"scope":"EXACT","text":"Periorbital puffiness"},{"scope":"EXACT","text":"Periorbital swelling"},{"scope":"EXACT","text":"Puffiness around eye"},{"scope":"EXACT","text":"Puffy eyes"},{"scope":"EXACT","text":"Swelling around the eyes"}]} +{"alt_ids":[],"definition":"Any deviation from the normal structure of the retinal artery or arterioles.","id":"HP:0000630","name":"Abnormal retinal arterial/arteriolar morphology","obsolete":false,"parents":["HP:0008046","HP:0011004","HP:3000036"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal retinal arteriole morphology"},{"scope":"EXACT","text":"Abnormal retinal artery morphology"},{"scope":"EXACT","text":"Abnormality of retinal arteries"},{"scope":"EXACT","text":"Retinal arterial abnormality"},{"scope":"EXACT","text":"Retinal arteriolar abnormality"}]} +{"alt_ids":[],"definition":"The presence of an increased number of twists and turns of the retinal artery.","id":"HP:0000631","name":"Retinal arterial tortuosity","obsolete":false,"parents":["HP:0000630","HP:0005116","HP:0012841"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Retinal artery tortuousity"}]} +{"alt_ids":["HP:0000521"],"definition":"Abnormality of tear production.","id":"HP:0000632","name":"Lacrimation abnormality","obsolete":false,"parents":["HP:0012373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of tear production"}]} +{"alt_ids":[],"definition":"Abnormally decreased lacrimation, that is, reduced tear production.","id":"HP:0000633","name":"Decreased lacrimation","obsolete":false,"parents":["HP:0000632"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased tear secretion"},{"scope":"EXACT","text":"Hypolacrimia"}]} +{"alt_ids":[],"definition":"An impaired ability of the eye to move in the outward direction (towards the side of the head).","id":"HP:0000634","name":"Impaired ocular abduction","obsolete":false,"parents":["HP:0011347"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A markedly blue coloration of the iris.","id":"HP:0000635","name":"Blue irides","obsolete":false,"parents":["HP:0008034"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blue eyes"}]} +{"alt_ids":[],"definition":"A short discontinuity of the margin of the upper eyelid.","id":"HP:0000636","name":"Upper eyelid coloboma","obsolete":false,"parents":["HP:0000625"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cleft upper eyelid"},{"scope":"EXACT","text":"Coloboma of the upper eyelid"},{"scope":"EXACT","text":"Full thickness defect of the upper eyelid"},{"scope":"EXACT","text":"Notched upper eyelid"},{"scope":"EXACT","text":"Upper eyelid colobomas"}]} +{"alt_ids":["HP:0007904"],"definition":"Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.","id":"HP:0000637","name":"Long palpebral fissure","obsolete":false,"parents":["HP:0200007"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad opening between the eyelids"},{"scope":"EXACT","text":"Broad palpebral fissure"},{"scope":"EXACT","text":"Long opening between the eyelids"},{"scope":"EXACT","text":"Long palpebral fissures"},{"scope":"EXACT","text":"Wide opening between the eyelids"},{"scope":"EXACT","text":"Wide palpebral fissure"},{"scope":"EXACT","text":"Wide palpebral fissures"}]} +{"alt_ids":[],"definition":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","id":"HP:0000639","name":"Nystagmus","obsolete":false,"parents":["HP:0012547"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Involuntary, rapid, rhythmic eye movements"}]} +{"alt_ids":[],"definition":"Nystagmus made apparent by looking to the right or to the left.","id":"HP:0000640","name":"Gaze-evoked nystagmus","obsolete":false,"parents":["HP:0000639"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results.","id":"HP:0000641","name":"Dysmetric saccades","obsolete":false,"parents":["HP:0000570"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dysmetric eye movements"},{"scope":"EXACT","text":"Dysmetric eye saccades"},{"scope":"EXACT","text":"Uncoordinated eye movement"}]} +{"alt_ids":["HP:0007960"],"definition":"Difficulty with discriminating red and green hues.","id":"HP:0000642","name":"Red-green dyschromatopsia","obsolete":false,"parents":["HP:0007641"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dyschromatopsia with red-green confusion"},{"scope":"EXACT","text":"Red green color blindness"},{"scope":"EXACT","text":"Red green colour blindness"},{"scope":"RELATED","text":"Red/green color vision defect"},{"scope":"RELATED","text":"Red/green colour vision defect"}]} +{"alt_ids":["HP:0007907"],"definition":"A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.","id":"HP:0000643","name":"Blepharospasm","obsolete":false,"parents":["HP:0012179","HP:0031879"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eyelid spasm"},{"scope":"EXACT","text":"Eyelid twitching"},{"scope":"EXACT","text":"Involuntary closure of eyelid"},{"scope":"EXACT","text":"Spontaneous closure of eyelid"}]} +{"alt_ids":[],"definition":"Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.","id":"HP:0000646","name":"Amblyopia","obsolete":false,"parents":["HP:0007663"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lazy eye"},{"scope":"EXACT","text":"Wandering eye"},{"scope":"EXACT","text":"Wandering eyes"}]} +{"alt_ids":[],"definition":"A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.","id":"HP:0000647","name":"Sclerocornea","obsolete":false,"parents":["HP:0007957"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hardening of skin and connective tissue"}]} +{"alt_ids":["HP:0007751","HP:0007855"],"definition":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","id":"HP:0000648","name":"Optic atrophy","obsolete":false,"parents":["HP:0012795"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Optic nerve atrophy"},{"scope":"EXACT","text":"Optic-nerve degeneration"}]} +{"alt_ids":[],"definition":"An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.","id":"HP:0000649","name":"Abnormality of visual evoked potentials","obsolete":false,"parents":["HP:0030453","HP:0430106"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal vision evoked potentials"},{"scope":"EXACT","text":"Abnormal visual evoked potential"},{"scope":"EXACT","text":"Abnormal visual evoked responses"},{"scope":"EXACT","text":"Abnormal visual-evoked potentials"},{"scope":"EXACT","text":"VEP abnormalities"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000650","name":"Abnormal amplitude of pattern reversal visual evoked potentials","obsolete":false,"parents":["HP:0100289"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.","id":"HP:0000651","name":"Diplopia","obsolete":false,"parents":["HP:0011514"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Double vision"}]} +{"alt_ids":["HP:0007909"],"definition":"A short discontinuity of the margin of the lower eyelid.","id":"HP:0000652","name":"Lower eyelid coloboma","obsolete":false,"parents":["HP:0000625"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cleft lower eyelid"},{"scope":"EXACT","text":"Coloboma of lower eyelid"},{"scope":"EXACT","text":"Full thickness defect of the lower eyelid"},{"scope":"EXACT","text":"Lower lid coloboma"},{"scope":"EXACT","text":"Notched lower eyelid"}]} +{"alt_ids":["HP:0002284","HP:0004519","HP:0004531","HP:0004555","HP:0004777","HP:0007853"],"definition":"Decreased density/number of eyelashes.","id":"HP:0000653","name":"Sparse eyelashes","obsolete":false,"parents":["HP:0008070","HP:0200102"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypotrichosis of eyelashes"},{"scope":"EXACT","text":"Partial absence of eyelashes"},{"scope":"EXACT","text":"Scant eyelashes"},{"scope":"EXACT","text":"Scanty eyelashes"},{"scope":"EXACT","text":"Sparse eyelashes"},{"scope":"EXACT","text":"Thin eyelashes"}]} +{"alt_ids":["HP:0007636","HP:0007689","HP:0007845"],"definition":"Decreased amplitude of eletrical response upon electroretinography.","id":"HP:0000654","name":"Decreased light- and dark-adapted electroretinogram amplitude","obsolete":false,"parents":["HP:0008323"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased ERG amplitude"},{"scope":"EXACT","text":"Decreased amplitudes on flash visual electroretinogram"},{"scope":"EXACT","text":"Decreased electroretinogram"},{"scope":"EXACT","text":"Decreased electroretinogram amplitude"},{"scope":"EXACT","text":"Decreased electroretinogram response"},{"scope":"EXACT","text":"Flattened or absent electroretinogram"},{"scope":"EXACT","text":"Reduced ERG"},{"scope":"EXACT","text":"Reduced electroretinogram"},{"scope":"EXACT","text":"Reduced or abolished electroretinogram"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000655","name":"obsolete Vitreoretinal degeneration","obsolete":true,"parents":[],"replaced_by":["HP:0007773"],"synonyms":[]} +{"alt_ids":[],"definition":"An outward turning (eversion) or rotation of the eyelid margin.","id":"HP:0000656","name":"Ectropion","obsolete":false,"parents":["HP:0000492"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Everted eyelid"},{"scope":"BROAD","text":"Eyelid folded out"},{"scope":"EXACT","text":"Eyelid turned out"}]} +{"alt_ids":["HP:0000628","HP:0007764"],"definition":"Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex.","id":"HP:0000657","name":"Oculomotor apraxia","obsolete":false,"parents":["HP:0000496","HP:0002186"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Defective or absent horizontal voluntary eye movements"},{"scope":"EXACT","text":"Ocular motor apraxia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000658","name":"Eyelid apraxia","obsolete":false,"parents":["HP:0002186","HP:0031879"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Difficulty opening the eyelids"}]} +{"alt_ids":[],"definition":"A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity.","id":"HP:0000659","name":"Peters anomaly","obsolete":false,"parents":["HP:0007700"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood is extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature.","id":"HP:0000660","name":"Lipemia retinalis","obsolete":false,"parents":["HP:0008046","HP:0030603"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0000661","name":"Palpebral fissure narrowing on adduction","obsolete":false,"parents":["HP:0000581"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007653","HP:0007725","HP:0007865","HP:0007895"],"definition":"Inability to see well at night or in poor light.","id":"HP:0000662","name":"Nyctalopia","obsolete":false,"parents":["HP:0000504"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Difficulties with night vision"},{"scope":"EXACT","text":"Night blindness"},{"scope":"EXACT","text":"Night-blindness"},{"scope":"EXACT","text":"Poor night vision"}]} +{"alt_ids":["HP:0002210"],"definition":"Meeting of the medial eyebrows in the midline.","id":"HP:0000664","name":"Synophrys","obsolete":false,"parents":["HP:0000534","HP:0002219"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Monobrow"},{"scope":"EXACT","text":"Synophris"},{"scope":"EXACT","text":"Unibrow"}]} +{"alt_ids":[],"definition":"Nystagmus consisting of horizontal to-and-fro eye movements.","id":"HP:0000666","name":"Horizontal nystagmus","obsolete":false,"parents":["HP:0000639"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nystagmus, horizontal"}]} +{"alt_ids":[],"definition":"Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.","id":"HP:0000667","name":"Phthisis bulbi","obsolete":false,"parents":["HP:0012372"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The absence of five or less teeth from the normal series by a failure to develop.","id":"HP:0000668","name":"Hypodontia","obsolete":false,"parents":["HP:0001592"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Failure of development of between one and six teeth"},{"scope":"RELATED","text":"Missing between one and six teeth"}]} +{"alt_ids":["HP:0006295","HP:0006306"],"definition":"Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.","id":"HP:0000670","name":"Carious teeth","obsolete":false,"parents":["HP:0011061"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Caries"},{"scope":"EXACT","text":"Cariosity of teeth"},{"scope":"EXACT","text":"Dental caries"},{"scope":"EXACT","text":"Dental cavities"},{"scope":"RELATED","text":"Dental decay"},{"scope":"EXACT","text":"Early dental caries"},{"scope":"EXACT","text":"Frequent caries"},{"scope":"RELATED","text":"Rotting teeth"},{"scope":"EXACT","text":"Tooth cavities"},{"scope":"EXACT","text":"Tooth decay"}]} +{"alt_ids":["HP:0006484"],"definition":"The absence of all teeth from the normal series by a failure to develop.","id":"HP:0000674","name":"Anodontia","obsolete":false,"parents":["HP:0009804"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anodontia vera"},{"scope":"EXACT","text":"Complete agenesis of all teeth"},{"scope":"NARROW","text":"Complete anodontia"},{"scope":"EXACT","text":"Complete dental agenesis"},{"scope":"EXACT","text":"Failure of development of all teeth"},{"scope":"RELATED","text":"Missing all teeth"},{"scope":"RELATED","text":"Total absence of all teeth"},{"scope":"NARROW","text":"Total anodontia"}]} +{"alt_ids":[],"definition":"Increased size of the maxillary central secondary incisor tooth.","id":"HP:0000675","name":"Macrodontia of permanent maxillary central incisor","obsolete":false,"parents":["HP:0011081"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Hyperplasia of permanent maxillary central incisor"},{"scope":"BROAD","text":"Hypertrophy of permanent maxillary central incisor"},{"scope":"BROAD","text":"Increased size of permanent maxillary central incisor"},{"scope":"BROAD","text":"Increased size of permanent upper central incisor"},{"scope":"EXACT","text":"Increased width of permanent maxillary central incisor"},{"scope":"EXACT","text":"Increased width of permanent upper central incisor"},{"scope":"BROAD","text":"Large permanent maxillary central incisor"},{"scope":"BROAD","text":"Large permanent upper central incisor"},{"scope":"EXACT","text":"Long maxillary central incisors"},{"scope":"EXACT","text":"Prominent upper incisors"},{"scope":"EXACT","text":"Prominent, protruding upper incisors"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000676","name":"obsolete Abnormality of the incisor","obsolete":true,"parents":[],"replaced_by":["HP:0011063"],"synonyms":[]} +{"alt_ids":["HP:0000702"],"definition":"The absence of six or more teeth from the normal series by a failure to develop.","id":"HP:0000677","name":"Oligodontia","obsolete":false,"parents":["HP:0001592"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Failure of development of more than six teeth"},{"scope":"RELATED","text":"Missing more than six teeth"},{"scope":"RELATED","text":"Number of teeth decreased by more than six"},{"scope":"EXACT","text":"Partial anodontia"}]} +{"alt_ids":[],"definition":"Changes in alignment of teeth in the dental arch","id":"HP:0000678","name":"Dental crowding","obsolete":false,"parents":["HP:0000692"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Crowded teeth"},{"scope":"EXACT","text":"Dental crowding"},{"scope":"EXACT","text":"Dental overcrowding"},{"scope":"BROAD","text":"Inadequate arch length for tooth size"},{"scope":"EXACT","text":"Overcrowding of teeth"},{"scope":"BROAD","text":"Tooth mass arch size discrepancy"},{"scope":"BROAD","text":"Tooth size discrepancy"}]} +{"alt_ids":[],"definition":"Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots.","id":"HP:0000679","name":"Taurodontia","obsolete":false,"parents":["HP:0006479","HP:0006486","HP:0011071"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Large elongated pulp chamber"},{"scope":"EXACT","text":"Taurodont"},{"scope":"EXACT","text":"Taurodontism"}]} +{"alt_ids":[],"definition":"Delayed tooth eruption affecting the primary dentition.","id":"HP:0000680","name":"Delayed eruption of primary teeth","obsolete":false,"parents":["HP:0000684","HP:0006481"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delayed eruption of baby teeth"},{"scope":"EXACT","text":"Delayed eruption of deciduous teeth"},{"scope":"EXACT","text":"Delayed eruption of milk teeth"},{"scope":"EXACT","text":"Delayed primary teeth eruption"},{"scope":"EXACT","text":"Late eruption of baby teeth"},{"scope":"EXACT","text":"Late eruption of milk teeth"},{"scope":"EXACT","text":"Late eruption of primary teeth"}]} +{"alt_ids":["HP:0006322"],"definition":"An abnormality of the dental enamel.","id":"HP:0000682","name":"Abnormal dental enamel morphology","obsolete":false,"parents":["HP:0011061","HP:3000050"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal tooth enamel"},{"scope":"EXACT","text":"Abnormality of dental enamel"},{"scope":"NARROW","text":"Defective tooth enamel"},{"scope":"NARROW","text":"Dystrophic tooth enamel"},{"scope":"EXACT","text":"Enamel abnormalities"},{"scope":"EXACT","text":"Enamel abnormality"},{"scope":"NARROW","text":"Malformation of dental enamel"},{"scope":"NARROW","text":"Malformation of tooth enamel"}]} +{"alt_ids":[],"definition":"A gray discoloration of the dental enamel.","id":"HP:0000683","name":"Grayish enamel","obsolete":false,"parents":["HP:0000682","HP:0011073"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gray colored tooth enamel"},{"scope":"EXACT","text":"Gray tooth shade"},{"scope":"EXACT","text":"Grayish enamel"},{"scope":"EXACT","text":"Grey coloured tooth enamel"},{"scope":"EXACT","text":"Grey tooth shade"},{"scope":"EXACT","text":"Greyish enamel"}]} +{"alt_ids":["HP:0000686","HP:0006294","HP:0006314","HP:0006328"],"definition":"Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.","id":"HP:0000684","name":"Delayed eruption of teeth","obsolete":false,"parents":["HP:0006292"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delayed dental development"},{"scope":"EXACT","text":"Delayed dental eruption"},{"scope":"EXACT","text":"Delayed eruption"},{"scope":"EXACT","text":"Delayed eruption of teeth"},{"scope":"EXACT","text":"Delayed teeth eruption"},{"scope":"EXACT","text":"Delayed tooth eruption"},{"scope":"EXACT","text":"Eruption, delayed"},{"scope":"EXACT","text":"Late eruption of teeth"},{"scope":"EXACT","text":"Late tooth eruption"}]} +{"alt_ids":["HP:0000688","HP:0006281","HP:0006307"],"definition":"Developmental hypoplasia of teeth.","id":"HP:0000685","name":"Hypoplasia of teeth","obsolete":false,"parents":["HP:0011061"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Decreased size of teeth"},{"scope":"EXACT","text":"Hypoplastic teeth"},{"scope":"BROAD","text":"Underdevelopment of teeth"}]} +{"alt_ids":[],"definition":"Increased spaces (diastemata) between most of the teeth in the same dental arch.","id":"HP:0000687","name":"Widely spaced teeth","obsolete":false,"parents":["HP:0000692"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised dental spacing"},{"scope":"EXACT","text":"Generalised spacing of teeth"},{"scope":"EXACT","text":"Generalized dental spacing"},{"scope":"EXACT","text":"Generalized spacing of teeth"},{"scope":"EXACT","text":"Multiple diastemata"},{"scope":"EXACT","text":"Wide-spaced teeth"},{"scope":"EXACT","text":"Widely spaced teeth"},{"scope":"EXACT","text":"Widely-spaced teeth"}]} +{"alt_ids":[],"definition":"Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.","id":"HP:0000689","name":"Dental malocclusion","obsolete":false,"parents":["HP:0000692"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Angle class 2 malocclusion"},{"scope":"NARROW","text":"Angle class 3 malocclusion"},{"scope":"EXACT","text":"Bad bite"},{"scope":"EXACT","text":"Bilateral crossbite"},{"scope":"EXACT","text":"Bilateral crossbite malocclusion"},{"scope":"EXACT","text":"Incorrect relation between upper and lower dental arches"},{"scope":"EXACT","text":"Malalignment of upper and lower dental arches"},{"scope":"EXACT","text":"Malocclusion"},{"scope":"EXACT","text":"Malocclusion of teeth"},{"scope":"EXACT","text":"Misalignment of upper and lower dental arches"},{"scope":"EXACT","text":"Occlusion anomaly"}]} +{"alt_ids":[],"definition":"Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor.","id":"HP:0000690","name":"Agenesis of maxillary lateral incisor","obsolete":false,"parents":["HP:0200153","HP:0200160"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Absence of maxillary lateral incisor"},{"scope":"RELATED","text":"Absence of upper lateral incisor"},{"scope":"EXACT","text":"Absent upper lateral incisors"},{"scope":"EXACT","text":"Failure of development of maxillary lateral incisor"},{"scope":"RELATED","text":"Missing maxillary lateral incisor"},{"scope":"RELATED","text":"Missing upper lateral incisor"}]} +{"alt_ids":[],"definition":"Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.","id":"HP:0000691","name":"Microdontia","obsolete":false,"parents":["HP:0006482"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased size of tooth"},{"scope":"EXACT","text":"Decreased width of tooth"},{"scope":"BROAD","text":"Hypotrophic tooth"},{"scope":"EXACT","text":"Small teeth"},{"scope":"EXACT","text":"Small tooth"},{"scope":"EXACT","text":"Tooth hypoplasia"},{"scope":"EXACT","text":"Tooth hypotrophy"},{"scope":"EXACT","text":"Underdeveloped tooth"}]} +{"alt_ids":["HP:0000693","HP:0001569","HP:0006303","HP:0006478"],"definition":"Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.","id":"HP:0000692","name":"Tooth malposition","obsolete":false,"parents":["HP:0006482"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal dental position"},{"scope":"EXACT","text":"Abnormal teeth spacing"},{"scope":"EXACT","text":"Abnormality of alignment of teeth"},{"scope":"BROAD","text":"Abnormality of position of teeth"},{"scope":"EXACT","text":"Abnormality of teeth spacing"},{"scope":"EXACT","text":"Crooked teeth"},{"scope":"EXACT","text":"Malaligned teeth"},{"scope":"EXACT","text":"Malposition of teeth"},{"scope":"EXACT","text":"Malpositioned teeth"},{"scope":"EXACT","text":"Misalignment of teeth"},{"scope":"EXACT","text":"Teeth, malposition"}]} +{"alt_ids":[],"definition":"The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin.","id":"HP:0000694","name":"Odontodysplasia","obsolete":false,"parents":["HP:0000703"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ghost teeth"},{"scope":"EXACT","text":"Shell teeth"},{"scope":"EXACT","text":"Teeth with dentinal dysplasia"},{"scope":"EXACT","text":"Teeth with thin dentin and large pulp chambers"},{"scope":"EXACT","text":"Teeth with type iii dentinogenesis imperfecta"}]} +{"alt_ids":[],"definition":"A tooth present at birth or erupting within the first month of life.","id":"HP:0000695","name":"Natal tooth","obsolete":false,"parents":["HP:0006288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Born with teeth"},{"scope":"EXACT","text":"Natal teeth"},{"scope":"EXACT","text":"Neonatal teeth"},{"scope":"EXACT","text":"Teeth present at birth"}]} +{"alt_ids":[],"definition":"Delayed tooth eruption affecting the secondary dentition.","id":"HP:0000696","name":"Delayed eruption of permanent teeth","obsolete":false,"parents":["HP:0000684"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delayed eruption of adult teeth"},{"scope":"EXACT","text":"Delayed eruption of permanent teeth"},{"scope":"EXACT","text":"Delayed eruption of secondary dentition"},{"scope":"EXACT","text":"Delayed eruption of secondary teeth"},{"scope":"EXACT","text":"Delayed permanent dentition"}]} +{"alt_ids":[],"definition":"An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.","id":"HP:0000698","name":"Conical tooth","obsolete":false,"parents":["HP:0006482"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone shaped tooth"},{"scope":"RELATED","text":"Conical teeth"},{"scope":"EXACT","text":"Conoid tooth"},{"scope":"EXACT","text":"Peg shaped teeth"},{"scope":"RELATED","text":"Peg shaped tooth"},{"scope":"EXACT","text":"Peg tooth"},{"scope":"EXACT","text":"Peg-shaped teeth"},{"scope":"EXACT","text":"Peg-shaped tooth"},{"scope":"RELATED","text":"Pointed tooth"}]} +{"alt_ids":[],"definition":"Increased space between two adjacent teeth in the same dental arch.","id":"HP:0000699","name":"Diastema","obsolete":false,"parents":["HP:0000692"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dental diastasis"},{"scope":"EXACT","text":"Dental diastema"},{"scope":"EXACT","text":"Diastasis of the teeth"},{"scope":"EXACT","text":"Diastema of the teeth"},{"scope":"EXACT","text":"Gap between teeth"},{"scope":"BROAD","text":"Gaps between teeth"}]} +{"alt_ids":[],"definition":"Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root).","id":"HP:0000700","name":"Periapical bone loss","obsolete":false,"parents":["HP:0000164"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Bone loss around tooth root"},{"scope":"EXACT","text":"Dark spot around tooth root on x-ray"},{"scope":"RELATED","text":"Periapical cyst"},{"scope":"RELATED","text":"Periapical granuloma"},{"scope":"EXACT","text":"Periapical lesion"},{"scope":"RELATED","text":"Periapical radiolucencies"},{"scope":"RELATED","text":"Periapical radiolucency"}]} +{"alt_ids":[],"definition":"Developmental dysplasia of dentin.","id":"HP:0000703","name":"Dentinogenesis imperfecta","obsolete":false,"parents":["HP:0010299","HP:3000050"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0000165","HP:0006301"],"definition":"Inflammation of the periodontium.","id":"HP:0000704","name":"Periodontitis","obsolete":false,"parents":["HP:0000164","HP:0000168","HP:0012649"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Gum disease"},{"scope":"BROAD","text":"Periodontal disease"},{"scope":"EXACT","text":"Pyorrhea"}]} +{"alt_ids":["HP:0006284","HP:0006310","HP:0006325","HP:0006327","HP:0006331"],"definition":"A developmental dysplasia of the dental enamel.","id":"HP:0000705","name":"Amelogenesis imperfecta","obsolete":false,"parents":["HP:0000682"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential.","id":"HP:0000706","name":"Eruption failure","obsolete":false,"parents":["HP:0006292"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Failure of eruption of tooth"},{"scope":"EXACT","text":"Pseudo-anodontia"},{"scope":"EXACT","text":"Pseudoanodontia"},{"scope":"BROAD","text":"Unerupted dentition"},{"scope":"EXACT","text":"Unerupted tooth"}]} +{"alt_ids":["HP:0001333","HP:0006987"],"definition":"An abnormality of the nervous system.","id":"HP:0000707","name":"Abnormality of the nervous system","obsolete":false,"parents":["HP:0000118"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the nervous system"},{"scope":"BROAD","text":"Brain and/or spinal cord issue"},{"scope":"EXACT","text":"Neurologic abnormalities"},{"scope":"EXACT","text":"Neurological abnormality"}]} +{"alt_ids":["HP:0000715","HP:0002368","HP:0002456"],"definition":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","id":"HP:0000708","name":"Atypical behavior","obsolete":false,"parents":["HP:0011446"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Behavioral abnormality"},{"scope":"EXACT","text":"Behavioral changes"},{"scope":"EXACT","text":"Behavioral disorders"},{"scope":"EXACT","text":"Behavioral disturbances"},{"scope":"EXACT","text":"Behavioral problems"},{"scope":"EXACT","text":"Behavioral symptoms"},{"scope":"EXACT","text":"Behavioral/psychiatric abnormalities"},{"scope":"EXACT","text":"Behavioural abnormality"},{"scope":"EXACT","text":"Behavioural changes"},{"scope":"EXACT","text":"Behavioural disorders"},{"scope":"EXACT","text":"Behavioural disturbances"},{"scope":"EXACT","text":"Behavioural problems"},{"scope":"EXACT","text":"Behavioural symptoms"},{"scope":"EXACT","text":"Behavioural/Psychiatric abnormality"},{"scope":"EXACT","text":"Psychiatric disorders"},{"scope":"EXACT","text":"Psychiatric disturbances"}]} +{"alt_ids":[],"definition":"A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.","id":"HP:0000709","name":"Psychosis","obsolete":false,"parents":["HP:5200430"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Psychosis"}]} +{"alt_ids":[],"definition":"Hyperorality is a condition characterized by an excessive preoccupation with oral sensations and behaviors, such as chewing, sucking, biting, swallowing, and excessive mouthing of objects.","id":"HP:0000710","name":"Hyperorality","obsolete":false,"parents":["HP:5200065"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperoralia"},{"scope":"EXACT","text":"Mouthing"}]} +{"alt_ids":[],"definition":"A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior.","id":"HP:0000711","name":"Restlessness","obsolete":false,"parents":["HP:5200263"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fidgetiness"},{"scope":"EXACT","text":"Restiveness"}]} +{"alt_ids":["HP:0000720","HP:0001575","HP:0008766"],"definition":"Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.","id":"HP:0000712","name":"Emotional lability","obsolete":false,"parents":["HP:0020007","HP:0031466"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Can't control feelings"},{"scope":"BROAD","text":"Emotional instability"},{"scope":"BROAD","text":"Mood lability"}]} +{"alt_ids":[],"definition":"A state of excessive motor activity that is associated with mental distress or a feeling of substantial unease or inner tension. Distinguished from restlessness by the increased level of emotional distress and negative intensity of the experience. Agitation has a significant level of physical activity that is typically threatening to the self or others.","id":"HP:0000713","name":"Agitation","obsolete":false,"parents":["HP:5200263"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Psychomotor agitation"}]} +{"alt_ids":[],"definition":"Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","id":"HP:0000716","name":"Depression","obsolete":false,"parents":["HP:0000745","HP:0100851"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Depression"},{"scope":"RELATED","text":"Depressive disorder"},{"scope":"EXACT","text":"Depressive episode"},{"scope":"EXACT","text":"Depressivity"}]} +{"alt_ids":[],"definition":"Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).","id":"HP:0000717","name":"Autism","obsolete":false,"parents":["HP:0000729"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Autism"}]} +{"alt_ids":["HP:0006919"],"definition":"Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).","id":"HP:0000718","name":"Aggressive behavior","obsolete":false,"parents":["HP:0000734"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aggression"},{"scope":"EXACT","text":"Aggressive behavior"},{"scope":"EXACT","text":"Aggressiveness"},{"scope":"RELATED","text":"physical aggression"}]} +{"alt_ids":["HP:0030220"],"definition":"An explicit or perceived action, demonstration, conduct, or language (verbal and written) that is contrary to generally accepted norms, rules, procedures, or unacceptable within the context in which it is carried out. Inappropriate behaviors could take place in a sexual or social context and could be aggressive, violent, impulsive, intimidating, or threatening in nature.","id":"HP:0000719","name":"Inappropriate behavior","obsolete":false,"parents":["HP:5200029"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inappropriate behavior"},{"scope":"EXACT","text":"Inappropriate behaviour"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000720","name":"obsolete Mood swings","obsolete":true,"parents":[],"replaced_by":["HP:0000712"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0000721","name":"Lack of spontaneous play","obsolete":false,"parents":["HP:5200104"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lack of spontaneous play"}]} +{"alt_ids":[],"definition":"Behavior that consists of repetitive acts, characterized by the feeling that one \"has to\" perform them, while being aware that these acts are not in line with one's overall goal.","id":"HP:0000722","name":"Compulsive behaviors","obsolete":false,"parents":["HP:5200241"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"OCD"},{"scope":"EXACT","text":"Obsessive compulsive behavior"},{"scope":"EXACT","text":"Obsessive compulsive behaviour"},{"scope":"EXACT","text":"Obsessive compulsive disorder"},{"scope":"EXACT","text":"Obsessive-compulsive behavior"},{"scope":"EXACT","text":"Obsessive-compulsive behaviour"},{"scope":"EXACT","text":"Obsessive-compulsive disorder"}]} +{"alt_ids":[],"definition":"Behavior characterized by an abnormal limitation to a few interests and activities.","id":"HP:0000723","name":"Restrictive behavior","obsolete":false,"parents":["HP:0031432"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Restricted behavior"},{"scope":"EXACT","text":"Restricted behaviour"},{"scope":"RELATED","text":"Restrictive behavior, interests, and activities"}]} +{"alt_ids":[],"definition":"Periods of time during which an individual experiences significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality. These episodes are hallmark features of psychotic disorders such as schizophrenia, schizoaffective disorder, and certain forms of bipolar disorder.","id":"HP:0000725","name":"Psychotic episodes","obsolete":false,"parents":["HP:5200430"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Psychotic episodes"}]} +{"alt_ids":["HP:0002274","HP:0007122","HP:0007150","HP:0007283"],"definition":"A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.","id":"HP:0000726","name":"Dementia","obsolete":false,"parents":["HP:0001268"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dementia"},{"scope":"EXACT","text":"Dementia, progressive"},{"scope":"EXACT","text":"Progressive dementia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000727","name":"Frontal lobe dementia","obsolete":false,"parents":["HP:0000726"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Difficulty to establish relations with others in a comparable social group (peers) that may be manifested in pehnomena such as not being able to initiative a conversation, understand social cues, or to discuss shared interests. This feature is associated with poor integration within a community or group.","id":"HP:0000728","name":"Reduced ability to form peer relationships","obsolete":false,"parents":["HP:0012760"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Impaired ability to form peer relationships"}]} +{"alt_ids":[],"definition":"Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.","id":"HP:0000729","name":"Autistic behavior","obsolete":false,"parents":["HP:0025783"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ASD"},{"scope":"RELATED","text":"Autism spectrum disorder"},{"scope":"RELATED","text":"Autism spectrum disorders"},{"scope":"RELATED","text":"Autistic behaviors"},{"scope":"EXACT","text":"Autistic behaviour"},{"scope":"RELATED","text":"Autistic behaviours"},{"scope":"EXACT","text":"Pervasive developmental disorder"}]} +{"alt_ids":[],"definition":"A need to strictly adhere to repetitive routines or patterns of behavior which are created by the environment. One becomes upset or distressed when their routines are disrupted or altered.","id":"HP:0000732","name":"Inflexible adherence to routines","obsolete":false,"parents":["HP:5200130"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008758","HP:0008759"],"definition":"Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.","id":"HP:0000733","name":"Motor stereotypy","obsolete":false,"parents":["HP:0031432","HP:6000768"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal repetitive mannerism"},{"scope":"EXACT","text":"Repetitive behavior"},{"scope":"EXACT","text":"Repetitive behaviour Stereotypic behaviour"},{"scope":"EXACT","text":"Repetitive movements"},{"scope":"EXACT","text":"Repetitive, stereotypic behavior"},{"scope":"EXACT","text":"Stereotyped"},{"scope":"EXACT","text":"Stereotyped behavior"},{"scope":"EXACT","text":"Stereotyped behaviors"},{"scope":"EXACT","text":"Stereotyped behaviour"},{"scope":"EXACT","text":"Stereotyped behaviours"},{"scope":"EXACT","text":"Stereotypic behaviour"},{"scope":"EXACT","text":"Stereotypic behaviours"},{"scope":"EXACT","text":"Stereotypical motor behavior"},{"scope":"EXACT","text":"Stereotypical motor behaviors"},{"scope":"EXACT","text":"Stereotypical motor behaviour"},{"scope":"EXACT","text":"Stereotypical motor behaviours"},{"scope":"EXACT","text":"Stimming"},{"scope":"EXACT","text":"repetitive behaviour"}]} +{"alt_ids":[],"definition":"Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment.","id":"HP:0000734","name":"Disinhibition","obsolete":false,"parents":["HP:5200241","HP:5200263"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Impulse control disorders"},{"scope":"EXACT","text":"Lack of self-control"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000735","name":"obsolete Impaired social interactions","obsolete":true,"parents":[],"replaced_by":["HP:0012760"],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced attention span characterized by distractibility and impulsivity.","id":"HP:0000736","name":"Short attention span","obsolete":false,"parents":["HP:5200044"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Easily distracted"},{"scope":"EXACT","text":"Easy distractibility"},{"scope":"EXACT","text":"High distractibility"},{"scope":"EXACT","text":"Poor attention span"},{"scope":"EXACT","text":"Problem paying attention"},{"scope":"EXACT","text":"Short attention span"}]} +{"alt_ids":[],"definition":"An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity).","id":"HP:0000737","name":"Irritability","obsolete":false,"parents":["HP:0031467"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cranky"},{"scope":"EXACT","text":"Easily annoyed"},{"scope":"EXACT","text":"Easily bothered"},{"scope":"EXACT","text":"Easily upset"},{"scope":"EXACT","text":"Grumpy"},{"scope":"EXACT","text":"Hot-temper"},{"scope":"EXACT","text":"Irritability"},{"scope":"EXACT","text":"Irritable"},{"scope":"EXACT","text":"Quick temper"},{"scope":"EXACT","text":"Short fuse"},{"scope":"EXACT","text":"Short tempered"}]} +{"alt_ids":[],"definition":"Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space.","id":"HP:0000738","name":"Hallucinations","obsolete":false,"parents":["HP:5200423"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hallucination"},{"scope":"EXACT","text":"Hallucinations"},{"scope":"EXACT","text":"Sensory hallucination"}]} +{"alt_ids":[],"definition":"Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.","id":"HP:0000739","name":"Anxiety","obsolete":false,"parents":["HP:5200230"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anxiety"},{"scope":"RELATED","text":"Anxiety disease"},{"scope":"EXACT","text":"Anxiousness"},{"scope":"EXACT","text":"Excessive, persistent worry and fear"}]} +{"alt_ids":[],"definition":"Recurrent attacks of severe anxiety, which occur without restriction to any particular situation or set of circumstances, are therefore unpredictable.","id":"HP:0000740","name":"Episodic paroxysmal anxiety","obsolete":false,"parents":["HP:0000739"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy.","id":"HP:0000741","name":"Apathy","obsolete":false,"parents":["HP:0000745"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lack of feeling, emotion, interest"},{"scope":"EXACT","text":"Lack of feeling, emotion, interest, motivation, initiation"},{"scope":"EXACT","text":"State of indifference"}]} +{"alt_ids":[],"definition":"Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die.","id":"HP:0000742","name":"Self-mutilation","obsolete":false,"parents":["HP:0100716"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deliberate self-harm"},{"scope":"EXACT","text":"Self mutilation"},{"scope":"EXACT","text":"Self-mutilation"}]} +{"alt_ids":["HP:0006911"],"definition":"Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes.","id":"HP:0000743","name":"Frontal release signs","obsolete":false,"parents":["HP:0100022"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Frontal release reflexes"}]} +{"alt_ids":[],"definition":"The feeling of frustration can be defined as an emotional reaction that occurs when a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration, characterized by crying or temper tantrums in children, or aggressive or other maladaptive behaviors.","id":"HP:0000744","name":"Low frustration tolerance","obsolete":false,"parents":["HP:0020007","HP:0031466"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intolerance to frustration"}]} +{"alt_ids":[],"definition":"A reduction in willful and motivated goal-directed behavior that is considered the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action.","id":"HP:0000745","name":"Abnormal diminished volition","obsolete":false,"parents":["HP:0025780"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Diminished energy"},{"scope":"EXACT","text":"Diminished motivation"},{"scope":"EXACT","text":"Diminished volitional state"},{"scope":"EXACT","text":"Lack of initiative"},{"scope":"EXACT","text":"Lack of motivation"},{"scope":"EXACT","text":"Lacking in initiative"},{"scope":"EXACT","text":"Lacks initiative"}]} +{"alt_ids":[],"definition":"A delusion is a fixed false belief held despite evidence to the contrary. The term delusion broadly encompasses all false judgments that possess the following external characteristics to a significant, albeit unspecified, extent: (1) they are held with an exceptional level of conviction, accompanied by an unparalleled subjective certainty; (2) there is an inability to consider alternative experiences or compelling counter-arguments; (3) the content of the belief is impossible.","id":"HP:0000746","name":"Delusion","obsolete":false,"parents":["HP:0025779","HP:5200401"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delusions"}]} +{"alt_ids":[],"definition":"Laughing that may be excessive and/or inappropriate in context (e.g., laughing at a funeral while others are crying).","id":"HP:0000748","name":"Inappropriate laughter","obsolete":false,"parents":["HP:5200029"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inappropriate laughter"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000749","name":"Paroxysmal bursts of laughter","obsolete":false,"parents":["HP:0000748"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Paroxysmal laughter"}]} +{"alt_ids":["HP:0002116","HP:0002117","HP:0002336","HP:0002399","HP:0002498","HP:0006936","HP:0007004","HP:0007127","HP:0007170","HP:0007172"],"definition":"A degree of language development that is significantly below the norm for a child of a specified age.","id":"HP:0000750","name":"Delayed speech and language development","obsolete":false,"parents":["HP:0002167","HP:0002463","HP:0012758"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deficiency of speech development"},{"scope":"EXACT","text":"Delayed language development"},{"scope":"EXACT","text":"Delayed speech"},{"scope":"EXACT","text":"Delayed speech acquisition"},{"scope":"EXACT","text":"Delayed speech and language development"},{"scope":"EXACT","text":"Delayed speech development"},{"scope":"EXACT","text":"Impaired speech and language development"},{"scope":"EXACT","text":"Impaired speech development"},{"scope":"EXACT","text":"Language delay"},{"scope":"EXACT","text":"Language delayed"},{"scope":"EXACT","text":"Language development deficit"},{"scope":"EXACT","text":"Late-onset speech development"},{"scope":"EXACT","text":"Poor language development"},{"scope":"RELATED","text":"Poor speech acquisition"},{"scope":"RELATED","text":"Poor speech development"},{"scope":"EXACT","text":"Speech and language delay"},{"scope":"EXACT","text":"Speech and language difficulties"},{"scope":"EXACT","text":"Speech delay"},{"scope":"RELATED","text":"Speech difficulties"}]} +{"alt_ids":[],"definition":"An abnormal shift in patterns of thinking, acting, or feeling.","id":"HP:0000751","name":"Personality changes","obsolete":false,"parents":["HP:0031466"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Personality change"},{"scope":"EXACT","text":"Personality changes"}]} +{"alt_ids":["HP:0008764"],"definition":"Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.","id":"HP:0000752","name":"Hyperactivity","obsolete":false,"parents":["HP:0000734"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperactive behavior"},{"scope":"EXACT","text":"Hyperactive behaviour"},{"scope":"EXACT","text":"Hyperkinetic disorder"},{"scope":"EXACT","text":"More active than typical"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000753","name":"Autism with high cognitive abilities","obsolete":false,"parents":["HP:0000729"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of anxiety disorder characterized by the avoidance of public places, especially where crowds gather.","id":"HP:0000756","name":"Agoraphobia","obsolete":false,"parents":["HP:5200232"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fear of open spaces"}]} +{"alt_ids":[],"definition":"Lack of insight (Anosognosia) is a neurological condition in which an individual is unaware of his or her own neurological deficit or psychiatric condition. Anosognosia can be associated with mental illness, dementia, and structural brain lesions and can affect an individual's conscious awareness of deficits involving judgment, emotions, memory, executive function, language skills, and motor ability.","id":"HP:0000757","name":"Lack of insight","obsolete":false,"parents":["HP:5200401"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anosognosia"},{"scope":"EXACT","text":"Lack of insight"}]} +{"alt_ids":[],"definition":"Abnormalities in eye contact, communicative facial expressions, gesture use, or the use of others' bodies to communicate convey shared meanings within a culture that replace or supplement verbal communication.","id":"HP:0000758","name":"Abnormal nonverbal communicative behavior","obsolete":false,"parents":["HP:0034434"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Impaired use of nonverbal behaviors"},{"scope":"EXACT","text":"Impaired use of nonverbal behaviours"}]} +{"alt_ids":["HP:0003483"],"definition":"A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system).","id":"HP:0000759","name":"Abnormal peripheral nervous system morphology","obsolete":false,"parents":["HP:0012639"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal peripheral nervous system structure"},{"scope":"RELATED","text":"Peripheral nervous system disease"}]} +{"alt_ids":["HP:0000761","HP:0007118","HP:0007218","HP:0007231"],"definition":"A reduction in the speed at which electrical signals propagate along the axon of a neuron.","id":"HP:0000762","name":"Decreased nerve conduction velocity","obsolete":false,"parents":["HP:0040129"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased NCV"},{"scope":"EXACT","text":"Decreased nerve conduction velocities"},{"scope":"EXACT","text":"Delayed nerve conduction velocity"},{"scope":"EXACT","text":"Reduced nerve conduction velocities"},{"scope":"EXACT","text":"Slow nerve conduction velocity"},{"scope":"EXACT","text":"Slowed nerve conduction velocities"}]} +{"alt_ids":["HP:0003410","HP:0006815","HP:0007043","HP:0007142"],"definition":"Peripheral neuropathy affecting the sensory nerves.","id":"HP:0000763","name":"Sensory neuropathy","obsolete":false,"parents":["HP:0009830"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Damage to nerves that sense feeling"},{"scope":"EXACT","text":"Peripheral sensory neuropathy"}]} +{"alt_ids":["HP:0006787","HP:0006876","HP:0007304"],"definition":"Progressive deterioration of peripheral axons.","id":"HP:0000764","name":"Peripheral axonal degeneration","obsolete":false,"parents":["HP:0000759"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0100655"],"definition":"Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).","id":"HP:0000765","name":"Abnormal thorax morphology","obsolete":false,"parents":["HP:0009121"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the chest"},{"scope":"EXACT","text":"Abnormality of the thorax"},{"scope":"EXACT","text":"Structural abnormality of the chest wall"}]} +{"alt_ids":["HP:0000780","HP:0006586","HP:0006594","HP:0006605","HP:0006630","HP:0006708"],"definition":"An anomaly of the sternum, also known as the breastbone.","id":"HP:0000766","name":"Abnormal sternum morphology","obsolete":false,"parents":["HP:0000765"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the sternum"},{"scope":"EXACT","text":"Pectus carinatum or pectus excavatum"},{"scope":"EXACT","text":"Pectus deformities"},{"scope":"EXACT","text":"Pectus deformity"},{"scope":"EXACT","text":"Pectus excavatum or carinatum"},{"scope":"EXACT","text":"Pectus excavatum or pectus carinatum"},{"scope":"EXACT","text":"Pectus excavatum/carinatum"},{"scope":"EXACT","text":"Sternal anomalies"}]} +{"alt_ids":["HP:0006613","HP:0006617"],"definition":"A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance.","id":"HP:0000767","name":"Pectus excavatum","obsolete":false,"parents":["HP:0000766"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Funnel chest"}]} +{"alt_ids":["HP:0006639"],"definition":"A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.","id":"HP:0000768","name":"Pectus carinatum","obsolete":false,"parents":["HP:0000766"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pigeon chest"}]} +{"alt_ids":[],"definition":"An abnormality of the breast.","id":"HP:0000769","name":"Abnormality of the breast","obsolete":false,"parents":["HP:0000118"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the breast"}]} +{"alt_ids":["HP:0000770"],"definition":"Abnormal development of large mammary glands in males resulting in breast enlargement.","id":"HP:0000771","name":"Gynecomastia","obsolete":false,"parents":["HP:0031093"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged male breast"},{"scope":"EXACT","text":"Gynaecomastia"}]} +{"alt_ids":["HP:0006618"],"definition":"An anomaly of the rib.","id":"HP:0000772","name":"Abnormal rib morphology","obsolete":false,"parents":["HP:0001547"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the ribs"},{"scope":"EXACT","text":"Rib abnormalities"},{"scope":"EXACT","text":"Rib anomalies"}]} +{"alt_ids":["HP:0000899","HP:0000908","HP:0009750"],"definition":"Reduced rib length.","id":"HP:0000773","name":"Short ribs","obsolete":false,"parents":["HP:0006712"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic ribs"},{"scope":"EXACT","text":"Rib hypoplasia"},{"scope":"EXACT","text":"Short ribs"}]} +{"alt_ids":["HP:0000909","HP:0005252","HP:0006588"],"definition":"Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.","id":"HP:0000774","name":"Narrow chest","obsolete":false,"parents":["HP:0005257"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low chest circumference"},{"scope":"EXACT","text":"Narrow chest"},{"scope":"EXACT","text":"Narrow shoulders"},{"scope":"EXACT","text":"Narrow thorax"},{"scope":"EXACT","text":"Reduced anterior-posterior chest diameter"}]} +{"alt_ids":["HP:0005204"],"definition":"Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity.","id":"HP:0000775","name":"Abnormality of the diaphragm","obsolete":false,"parents":["HP:0040286"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the diaphragm"},{"scope":"EXACT","text":"Diaphragm issues"},{"scope":"EXACT","text":"Diaphragmatic defect"}]} +{"alt_ids":["HP:0006604"],"definition":"The presence of a hernia of the diaphragm present at birth.","id":"HP:0000776","name":"Congenital diaphragmatic hernia","obsolete":false,"parents":["HP:0000775","HP:0100790"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Diaphragmatic hernia"}]} +{"alt_ids":[],"definition":"Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.","id":"HP:0000777","name":"Abnormal thymus morphology","obsolete":false,"parents":["HP:0000818","HP:0100763"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the thymus"}]} +{"alt_ids":[],"definition":"Underdevelopment of the thymus.","id":"HP:0000778","name":"Hypoplasia of the thymus","obsolete":false,"parents":["HP:0010515"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small thymus"},{"scope":"EXACT","text":"Thymic hypoplasia"},{"scope":"EXACT","text":"Thymus hypoplasia"}]} +{"alt_ids":[],"definition":"Any abnormality of the scapula, also known as the shoulder blade.","id":"HP:0000782","name":"Abnormal scapula morphology","obsolete":false,"parents":["HP:0000765"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the shoulder blade"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000786","name":"Primary amenorrhea","obsolete":false,"parents":["HP:0000141"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0000102"],"definition":"Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae.","id":"HP:0000787","name":"Kidney stone","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Kidney stones"},{"scope":"EXACT","text":"Nephrolithiasis"},{"scope":"EXACT","text":"Renal calculi"},{"scope":"EXACT","text":"Renal stones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000789","name":"Infertility","obsolete":false,"parents":["HP:0000144"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Infertility"}]} +{"alt_ids":[],"definition":"The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).","id":"HP:0000790","name":"Hematuria","obsolete":false,"parents":["HP:0012211","HP:0012614"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blood in urine"},{"scope":"BROAD","text":"High urine occult blood"}]} +{"alt_ids":[],"definition":"The presence of uric acid-containing calculi (stones) in the kidneys.","id":"HP:0000791","name":"Uric acid nephrolithiasis","obsolete":false,"parents":["HP:0000787"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uric acid stones"},{"scope":"EXACT","text":"Uric acid urolithiasis"}]} +{"alt_ids":[],"definition":"A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity","id":"HP:0000793","name":"Membranoproliferative glomerulonephritis","obsolete":false,"parents":["HP:0000099"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"MPGN"},{"scope":"EXACT","text":"Mesangiocapillary glomerulonephritis"}]} +{"alt_ids":[],"definition":"The presence of immunoglobulin A deposits in the glomerulus.","id":"HP:0000794","name":"IgA deposition in the glomerulus","obsolete":false,"parents":["HP:0030949"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"IgA nephropathy"}]} +{"alt_ids":[],"definition":"An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.","id":"HP:0000795","name":"Abnormality of the urethra","obsolete":false,"parents":["HP:0010936"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Urethra issue"}]} +{"alt_ids":[],"definition":"Obstruction of the flow of urine through the urethra.","id":"HP:0000796","name":"Urethral obstruction","obsolete":false,"parents":["HP:0000795"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.","id":"HP:0000798","name":"Oligozoospermia","obsolete":false,"parents":["HP:0008669"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low sperm count"},{"scope":"EXACT","text":"Oligospermia"}]} +{"alt_ids":[],"definition":"Abnormal fat accumulation in the kidneys.","id":"HP:0000799","name":"Renal steatosis","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fatty kidney"}]} +{"alt_ids":["HP:0008737"],"definition":null,"id":"HP:0000800","name":"Cystic renal dysplasia","obsolete":false,"parents":["HP:0000107"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bilateral cystic dysplasia"},{"scope":"EXACT","text":"Renal cystic dysplasia"},{"scope":"EXACT","text":"Renal dysplasia, cystic"}]} +{"alt_ids":[],"definition":"Inability to develop or maintain an erection of the penis.","id":"HP:0000802","name":"Impotence","obsolete":false,"parents":["HP:0100639"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Difficulty getting a full erection"},{"scope":"EXACT","text":"Difficulty getting an erection"}]} +{"alt_ids":[],"definition":"Cysts of the cortex of the kidney.","id":"HP:0000803","name":"Renal cortical cysts","obsolete":false,"parents":["HP:0000107","HP:0011035"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cortical cysts"}]} +{"alt_ids":[],"definition":"The presence of xanthine-containing calculi (stones) in the kidneys.","id":"HP:0000804","name":"Xanthine nephrolithiasis","obsolete":false,"parents":["HP:0000787"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Urinary xanthine stones"},{"scope":"EXACT","text":"Xanthine stones"}]} +{"alt_ids":[],"definition":"Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.","id":"HP:0000805","name":"Enuresis","obsolete":false,"parents":["HP:0000009"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of hypospadias in which the urethral meatus is located at the head of the penis, but not all the way at the tip.","id":"HP:0000807","name":"Glanular hypospadias","obsolete":false,"parents":["HP:0003244"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Balanic hypospadias"}]} +{"alt_ids":[],"definition":"A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum.","id":"HP:0000808","name":"Penoscrotal hypospadias","obsolete":false,"parents":["HP:0000047"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Congenital absence of the normal opening of a structure of the urinary tract.","id":"HP:0000809","name":"Urinary tract atresia","obsolete":false,"parents":["HP:0000079"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the external genitalia.","id":"HP:0000811","name":"Abnormal external genitalia morphology","obsolete":false,"parents":["HP:0012243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal external genitalia"}]} +{"alt_ids":[],"definition":"An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).","id":"HP:0000812","name":"Abnormal internal genitalia","obsolete":false,"parents":["HP:0012243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal internal genitalia"}]} +{"alt_ids":["HP:0008735"],"definition":"The presence of a bicornuate uterus.","id":"HP:0000813","name":"Bicornuate uterus","obsolete":false,"parents":["HP:0031105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Heart shaped uterus"},{"scope":"EXACT","text":"Heart-shaped uterus"},{"scope":"EXACT","text":"Uterus bicornis"}]} +{"alt_ids":["HP:0008679"],"definition":"Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.","id":"HP:0000815","name":"Hypergonadotropic hypogonadism","obsolete":false,"parents":["HP:0000135"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypergonadotrophic hypogonadism"},{"scope":"EXACT","text":"Primary hypogonadism"}]} +{"alt_ids":[],"definition":"An abnormality of the tricarboxylic acid cycle.","id":"HP:0000816","name":"Abnormality of Krebs cycle metabolism","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of citric acid cycle"},{"scope":"EXACT","text":"Abnormality of the tricarboxylic cycle"}]} +{"alt_ids":[],"definition":"A reduced frequency or duration of eye contact.","id":"HP:0000817","name":"Reduced eye contact","obsolete":false,"parents":["HP:0034435"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Poor eye contact"}]} +{"alt_ids":[],"definition":"An abnormality of the endocrine system.","id":"HP:0000818","name":"Abnormality of the endocrine system","obsolete":false,"parents":["HP:0000118"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Endocrine system disease"}]} +{"alt_ids":["HP:0004908","HP:0008217","HP:0008234","HP:0008260"],"definition":"A group of abnormalities characterized by hyperglycemia and glucose intolerance.","id":"HP:0000819","name":"Diabetes mellitus","obsolete":false,"parents":["HP:0000818","HP:0001952"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the thyroid gland.","id":"HP:0000820","name":"Abnormality of the thyroid gland","obsolete":false,"parents":["HP:0000818"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the thyroid gland"},{"scope":"EXACT","text":"Thyroid abnormality"},{"scope":"RELATED","text":"Thyroid disease"}]} +{"alt_ids":["HP:0003222","HP:0008203"],"definition":"Deficiency of thyroid hormone.","id":"HP:0000821","name":"Hypothyroidism","obsolete":false,"parents":["HP:0002926"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low T4"},{"scope":"EXACT","text":"Underactive thyroid"}]} +{"alt_ids":["HP:0004949","HP:0005126"],"definition":"The presence of chronic increased pressure in the systemic arterial system.","id":"HP:0000822","name":"Hypertension","obsolete":false,"parents":["HP:0032263"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Arterial hypertension"},{"scope":"RELATED","text":"High blood pressure"},{"scope":"EXACT","text":"Systemic hypertension"}]} +{"alt_ids":["HP:0008859","HP:0010466","HP:0010467"],"definition":"Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.","id":"HP:0000823","name":"Delayed puberty","obsolete":false,"parents":["HP:0001510","HP:0008373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delayed pubertal development"},{"scope":"EXACT","text":"Delayed pubertal growth"},{"scope":"EXACT","text":"Delayed puberty"},{"scope":"EXACT","text":"Pubertal delay"}]} +{"alt_ids":["HP:0000861","HP:0008195","HP:0008206"],"definition":"Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.","id":"HP:0000824","name":"Decreased response to growth hormone stimulation test","obsolete":false,"parents":["HP:0000830","HP:0031073"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of insulin combined with a decreased concentration of glucose in the blood.","id":"HP:0000825","name":"Hyperinsulinemic hypoglycemia","obsolete":false,"parents":["HP:0000842"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperinsulinaemic hypoglycaemia"},{"scope":"EXACT","text":"Hyperinsulinemia hypoglycemia"}]} +{"alt_ids":[],"definition":"The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.","id":"HP:0000826","name":"Precocious puberty","obsolete":false,"parents":["HP:0100000"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Early onset of puberty"},{"scope":"EXACT","text":"Early puberty"}]} +{"alt_ids":[],"definition":"An abnormality of the parathyroid gland.","id":"HP:0000828","name":"Abnormality of the parathyroid gland","obsolete":false,"parents":["HP:0000818"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Parathyroid disease"}]} +{"alt_ids":["HP:0000856","HP:0008292"],"definition":"A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.","id":"HP:0000829","name":"Hypoparathyroidism","obsolete":false,"parents":["HP:0011767"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased parathyroid hormone secretion"},{"scope":"EXACT","text":"Low parathyroid hormone"}]} +{"alt_ids":[],"definition":"A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.","id":"HP:0000830","name":"Anterior hypopituitarism","obsolete":false,"parents":["HP:0040075"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels.","id":"HP:0000831","name":"Insulin-resistant diabetes mellitus","obsolete":false,"parents":["HP:0000819","HP:0000855"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Insulin resistant diabetes"},{"scope":"EXACT","text":"Insulin resistant diabetes mellitus"},{"scope":"EXACT","text":"Insulin-resistant diabetes"}]} +{"alt_ids":[],"definition":"A type of hypothyroidism that results from a defect in the thyroid gland.","id":"HP:0000832","name":"Primary hypothyroidism","obsolete":false,"parents":["HP:0000821"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0000833","name":"obsolete Glucose intolerance","obsolete":true,"parents":[],"replaced_by":["HP:0001952"],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.","id":"HP:0000834","name":"Abnormality of the adrenal glands","obsolete":false,"parents":["HP:0000818"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Adrenal abnormalities"},{"scope":"RELATED","text":"Adrenal gland disease"}]} +{"alt_ids":[],"definition":"Developmental hypoplasia of the adrenal glands.","id":"HP:0000835","name":"Adrenal hypoplasia","obsolete":false,"parents":["HP:0011732"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Adrenal gland hypoplasia"},{"scope":"EXACT","text":"Hypoplastic adrenal glands"},{"scope":"EXACT","text":"Small adrenal glands"},{"scope":"EXACT","text":"Underdeveloped adrenal glands"}]} +{"alt_ids":["HP:0008241"],"definition":"An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).","id":"HP:0000836","name":"Hyperthyroidism","obsolete":false,"parents":["HP:0002926"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Overactive thyroid"}]} +{"alt_ids":["HP:0030340"],"definition":"Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.","id":"HP:0000837","name":"Increased circulating gonadotropin level","obsolete":false,"parents":["HP:0010514","HP:0030338"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated gonadotropins"},{"scope":"EXACT","text":"Elevated serum gonadotropins"},{"scope":"EXACT","text":"Gonadotropin excess"},{"scope":"EXACT","text":"Increased circulating gonadotropin level"}]} +{"alt_ids":[],"definition":"A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones.","id":"HP:0000839","name":"Pituitary dwarfism","obsolete":false,"parents":["HP:0004322"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001921"],"definition":"Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects.","id":"HP:0000840","name":"Adrenogenital syndrome","obsolete":false,"parents":["HP:0008373"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.","id":"HP:0000841","name":"Hyperactive renin-angiotensin system","obsolete":false,"parents":["HP:0000847"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Increased plasma renin activity"}]} +{"alt_ids":[],"definition":"An increased concentration of insulin in the blood.","id":"HP:0000842","name":"Hyperinsulinemia","obsolete":false,"parents":["HP:0011014","HP:0040214"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated insulin level"}]} +{"alt_ids":[],"definition":"Excessive production of parathyroid hormone (PTH) by the parathyroid glands.","id":"HP:0000843","name":"Hyperparathyroidism","obsolete":false,"parents":["HP:0011767"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated blood parathyroid hormone level"}]} +{"alt_ids":["HP:0008856"],"definition":"Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.","id":"HP:0000845","name":"Elevated circulating growth hormone concentration","obsolete":false,"parents":["HP:0010514","HP:0032367"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating somatotropin concentration"},{"scope":"EXACT","text":"Growth hormone excess"},{"scope":"EXACT","text":"Somatotropin excess"}]} +{"alt_ids":["HP:0000865","HP:0008218"],"definition":"Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.","id":"HP:0000846","name":"Adrenal insufficiency","obsolete":false,"parents":["HP:0011733"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoadrenalism"}]} +{"alt_ids":["HP:0003350"],"definition":"An abnormality of the renin-angiotensin system.","id":"HP:0000847","name":"Abnormality of renin-angiotensin system","obsolete":false,"parents":["HP:0000818"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the renin-aldosterone axis"}]} +{"alt_ids":["HP:0003615"],"definition":"An increased level of renin in the blood.","id":"HP:0000848","name":"Increased circulating renin concentration","obsolete":false,"parents":["HP:0040084"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated blood renin level"},{"scope":"EXACT","text":"Elevated plasma renin"},{"scope":"EXACT","text":"Hyperreninemia"},{"scope":"EXACT","text":"Increased circulating renin level"},{"scope":"EXACT","text":"Increased plasma renin"},{"scope":"EXACT","text":"Increased serum renin"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000849","name":"Adrenocortical abnormality","obsolete":false,"parents":["HP:0011732"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of hypothyroidism with congenital onset.","id":"HP:0000851","name":"Congenital hypothyroidism","obsolete":false,"parents":["HP:0000821"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypothyroidism, congenital"},{"scope":"EXACT","text":"Underactive thyroid gland from birth"}]} +{"alt_ids":[],"definition":"A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone.","id":"HP:0000852","name":"Pseudohypoparathyroidism","obsolete":false,"parents":["HP:0011767"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An enlargement of the thyroid gland.","id":"HP:0000853","name":"Goiter","obsolete":false,"parents":["HP:0011772"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged thyroid gland in neck"},{"scope":"EXACT","text":"Goitre"},{"scope":"EXACT","text":"Thyroid goiter"},{"scope":"EXACT","text":"Thyroid goitre"}]} +{"alt_ids":[],"definition":"The presence of a adenoma of the thyroid gland.","id":"HP:0000854","name":"Thyroid adenoma","obsolete":false,"parents":["HP:0100031"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.","id":"HP:0000855","name":"Insulin resistance","obsolete":false,"parents":["HP:0011014"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Body fails to respond to insulin"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000857","name":"Neonatal insulin-dependent diabetes mellitus","obsolete":false,"parents":["HP:0000819"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally high variation in the amount of time between periods.","id":"HP:0000858","name":"Irregular menstruation","obsolete":false,"parents":["HP:0000140"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular menses"},{"scope":"EXACT","text":"Irregular periods"},{"scope":"EXACT","text":"Menstrual irregularities"},{"scope":"EXACT","text":"Menstrual irregularity"}]} +{"alt_ids":["HP:0004318","HP:0005975"],"definition":"Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.","id":"HP:0000859","name":"Increased circulating aldosterone concentration","obsolete":false,"parents":["HP:0040085"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated plasma aldosterone"},{"scope":"RELATED","text":"Hyperaldosteronism"},{"scope":"EXACT","text":"Increased aldosterone"},{"scope":"EXACT","text":"Increased aldosterone production"},{"scope":"EXACT","text":"Mineralocorticoid excess"}]} +{"alt_ids":[],"definition":"Developmental hypoplasia of the parathyroid gland.","id":"HP:0000860","name":"Parathyroid hypoplasia","obsolete":false,"parents":["HP:0011768"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small parathyroid glands"},{"scope":"EXACT","text":"Underdeveloped parathyroid glands"}]} +{"alt_ids":["HP:0008210"],"definition":"A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus.","id":"HP:0000863","name":"Central diabetes insipidus","obsolete":false,"parents":["HP:0000873"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neurohypophyseal diabetes insipidus"}]} +{"alt_ids":["HP:0000838","HP:0000844"],"definition":"Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.","id":"HP:0000864","name":"Abnormality of the hypothalamus-pituitary axis","obsolete":false,"parents":["HP:0000818"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0000866","name":"Euthyroid multinodular goiter","obsolete":false,"parents":["HP:0009798"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Euthyroid multinodular goitre"}]} +{"alt_ids":[],"definition":"Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia.","id":"HP:0000867","name":"Secondary hyperparathyroidism","obsolete":false,"parents":["HP:0000843"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0000868","name":"Decreased fertility in females","obsolete":false,"parents":["HP:0000144"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased fertility in females"},{"scope":"EXACT","text":"Reduced fertility in females"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000869","name":"Secondary amenorrhea","obsolete":false,"parents":["HP:0000141"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Previous menstrual periods stop"}]} +{"alt_ids":[],"definition":"The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.","id":"HP:0000870","name":"Increased circulating prolactin concentration","obsolete":false,"parents":["HP:0010514"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperprolactinaemia"},{"scope":"EXACT","text":"Hyperprolactinemia"},{"scope":"EXACT","text":"Prolactin excess"}]} +{"alt_ids":[],"definition":"A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).","id":"HP:0000871","name":"Panhypopituitarism","obsolete":false,"parents":["HP:0000830"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A chronic, autoimmune type of thyroiditis associated with hypothyroidism.","id":"HP:0000872","name":"Hashimoto thyroiditis","obsolete":false,"parents":["HP:0002960","HP:0100646"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic lymphocytic thyroiditis"},{"scope":"EXACT","text":"Hashimoto's thyroiditis"}]} +{"alt_ids":[],"definition":"A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).","id":"HP:0000873","name":"Diabetes insipidus","obsolete":false,"parents":["HP:0000818"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0000875","name":"Episodic hypertension","obsolete":false,"parents":["HP:0000822"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intermittent high blood pressure"}]} +{"alt_ids":[],"definition":"Infrequent menses (less than 6 per year or more than 35 days between cycles).","id":"HP:0000876","name":"Oligomenorrhea","obsolete":false,"parents":["HP:0000140"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Light or infrequent menstrual periods"}]} +{"alt_ids":[],"definition":"A type of insulin-resistant diabetes mellitus that develops around the time of publerty in contrast to the common form of type 2 diabetes-associated insulin resistance that typically presents in mid-to-late adulthood.","id":"HP:0000877","name":"Insulin-resistant diabetes mellitus at puberty","obsolete":false,"parents":["HP:0000831"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Insulin-resistant diabetes mellitus at puberty"}]} +{"alt_ids":[],"definition":"Presence of only 11 pairs of ribs.","id":"HP:0000878","name":"11 pairs of ribs","obsolete":false,"parents":["HP:0000921"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"11 pairs of ribs"}]} +{"alt_ids":[],"definition":"Decreased inferosuperior length of the sternum.","id":"HP:0000879","name":"Short sternum","obsolete":false,"parents":["HP:0006714"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Hypoplastic sternum"},{"scope":"EXACT","text":"Short sternum"}]} +{"alt_ids":["HP:0000906","HP:0006616"],"definition":"Underdeveloped scapula.","id":"HP:0000882","name":"Hypoplastic scapulae","obsolete":false,"parents":["HP:0006713"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic scapula"},{"scope":"EXACT","text":"Scapular hypoplasia"},{"scope":"EXACT","text":"Short scapulae"},{"scope":"EXACT","text":"Small scapula"},{"scope":"EXACT","text":"Small scapulae"},{"scope":"EXACT","text":"Small shoulder blade"}]} +{"alt_ids":[],"definition":"Ribs with a reduced diameter.","id":"HP:0000883","name":"Thin ribs","obsolete":false,"parents":["HP:0000772"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Slender ribs"},{"scope":"EXACT","text":"Thin ribs"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000884","name":"Prominent sternum","obsolete":false,"parents":["HP:0000766"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prominent sternum"},{"scope":"EXACT","text":"Sternal protrusion"}]} +{"alt_ids":["HP:0000903","HP:0000950","HP:0006667"],"definition":"Increased width of ribs","id":"HP:0000885","name":"Broad ribs","obsolete":false,"parents":["HP:0000772"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad ribs"},{"scope":"EXACT","text":"Wide ribs"}]} +{"alt_ids":[],"definition":"Malformation of the rib cage.","id":"HP:0000886","name":"Deformed rib cage","obsolete":false,"parents":["HP:0001547"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deformed rib cage"}]} +{"alt_ids":["HP:0006635"],"definition":"Wide, concave rib end.","id":"HP:0000887","name":"Cupped ribs","obsolete":false,"parents":["HP:0000772"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cupped ribs"},{"scope":"EXACT","text":"Rib cupping"},{"scope":"RELATED","text":"Rib flaring"}]} +{"alt_ids":[],"definition":"A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12.","id":"HP:0000888","name":"Horizontal ribs","obsolete":false,"parents":["HP:0000772"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Horizontal ribs"}]} +{"alt_ids":[],"definition":"Any abnormality of the clavicles (collar bones).","id":"HP:0000889","name":"Abnormal clavicle morphology","obsolete":false,"parents":["HP:0000765"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal clavicles"},{"scope":"EXACT","text":"Abnormal collarbone"},{"scope":"EXACT","text":"Abnormality of the clavicle"}]} +{"alt_ids":["HP:0006592"],"definition":"Increased length of the clavicles.","id":"HP:0000890","name":"Long clavicle","obsolete":false,"parents":["HP:0000889"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elongated clavicles"},{"scope":"EXACT","text":"Long clavicles"},{"scope":"EXACT","text":"Long collarbone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000891","name":"Cervical ribs","obsolete":false,"parents":["HP:0005815"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray.","id":"HP:0000892","name":"Bifid ribs","obsolete":false,"parents":["HP:0000772"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cleft ribs"},{"scope":"EXACT","text":"Split ribs"}]} +{"alt_ids":[],"definition":"Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage.","id":"HP:0000893","name":"Bulging of the costochondral junction","obsolete":false,"parents":["HP:0000766","HP:0000919"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0000898","HP:0005698","HP:0005902"],"definition":"Reduced length of the clavicles.","id":"HP:0000894","name":"Short clavicles","obsolete":false,"parents":["HP:0006710"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Clavicular hypoplasia"},{"scope":"EXACT","text":"Hypoplastic clavicles"},{"scope":"EXACT","text":"Short collarbone"},{"scope":"EXACT","text":"Underdeveloped clavicles"}]} +{"alt_ids":[],"definition":"An excessive upward convexity of the lateral clavicle.","id":"HP:0000895","name":"Lateral clavicle hook","obsolete":false,"parents":["HP:0000889"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Handlebar clavicle"},{"scope":"EXACT","text":"Hook-shaped clavicle"},{"scope":"EXACT","text":"Hook-shaped collarbone"},{"scope":"EXACT","text":"Hooked clavicle"}]} +{"alt_ids":[],"definition":"Multiple circumscribed bony excrescences located in the ribs.","id":"HP:0000896","name":"Rib exostoses","obsolete":false,"parents":["HP:0000772","HP:0100777"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib.","id":"HP:0000897","name":"Rachitic rosary","obsolete":false,"parents":["HP:0000766","HP:0000919"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased thickness (diameter) of ribs.","id":"HP:0000900","name":"Thickened ribs","obsolete":false,"parents":["HP:0000772"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0000880"],"definition":"Complete or partial merging of adjacent ribs.","id":"HP:0000902","name":"Rib fusion","obsolete":false,"parents":["HP:0000772"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused ribs"},{"scope":"EXACT","text":"Rib fusion"}]} +{"alt_ids":["HP:0006656"],"definition":"The presence of wide, concave anterior rib ends.","id":"HP:0000904","name":"Flaring of rib cage","obsolete":false,"parents":["HP:0000772"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anterior flaring of ribs"},{"scope":"EXACT","text":"Flaring of rib cage"}]} +{"alt_ids":[],"definition":"Progressive bone resorption in the distal part of the clavicle.","id":"HP:0000905","name":"Progressive clavicular acroosteolysis","obsolete":false,"parents":["HP:0000889","HP:0002797"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Progressive acroosteolysis of the clavicle"}]} +{"alt_ids":["HP:0006601"],"definition":"Wide, concave anterior rib end.","id":"HP:0000907","name":"Anterior rib cupping","obsolete":false,"parents":["HP:0000887"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anterior cupping of ribs"},{"scope":"EXACT","text":"Anteriorly splayed ribs"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000910","name":"Wide-cupped costochondral junctions","obsolete":false,"parents":["HP:0000919"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.","id":"HP:0000911","name":"Flat glenoid fossa","obsolete":false,"parents":["HP:0011912"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006621"],"definition":"A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).","id":"HP:0000912","name":"Sprengel anomaly","obsolete":false,"parents":["HP:0000782"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital, upward displacement of the scapula"},{"scope":"EXACT","text":"High scapula"},{"scope":"EXACT","text":"High shoulder blade"},{"scope":"EXACT","text":"Sprengel deformity"}]} +{"alt_ids":[],"definition":"Complete or partial merging of the posterior part of adjacent ribs.","id":"HP:0000913","name":"Posterior rib fusion","obsolete":false,"parents":["HP:0000902"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A broad chest.","id":"HP:0000914","name":"Shield chest","obsolete":false,"parents":["HP:0100625"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Broad chest"},{"scope":"EXACT","text":"Shield chest"}]} +{"alt_ids":[],"definition":"Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum.","id":"HP:0000915","name":"Pectus excavatum of inferior sternum","obsolete":false,"parents":["HP:0000767"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pectus excavatum inferiorly"}]} +{"alt_ids":["HP:0006651"],"definition":"Increased width (cross-sectional diameter) of the clavicles.","id":"HP:0000916","name":"Broad clavicle","obsolete":false,"parents":["HP:0000889"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad clavicles"},{"scope":"EXACT","text":"Broad collarbone"}]} +{"alt_ids":[],"definition":"Pectus carinatum affecting primarily the superior part of the sternum.","id":"HP:0000917","name":"Superior pectus carinatum","obsolete":false,"parents":["HP:0000768"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pectus carinatum superiorly"}]} +{"alt_ids":[],"definition":"The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage.","id":"HP:0000918","name":"Scapular exostoses","obsolete":false,"parents":["HP:0000782","HP:0100777"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Scapulae exostoses"},{"scope":"EXACT","text":"Shoulder bone exostoes"}]} +{"alt_ids":[],"definition":"Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.","id":"HP:0000919","name":"Abnormality of the costochondral junction","obsolete":false,"parents":["HP:0000772"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Costochondral juctions abnormal"}]} +{"alt_ids":["HP:0006620"],"definition":"Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.","id":"HP:0000920","name":"Enlargement of the costochondral junction","obsolete":false,"parents":["HP:0000919"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Costochondral thickening"},{"scope":"EXACT","text":"Enlarged costochondral junctions"},{"scope":"EXACT","text":"Prominent costochondral junction"},{"scope":"EXACT","text":"Wide costochondral junctions"},{"scope":"EXACT","text":"Widened costochondral junction"}]} +{"alt_ids":["HP:0000881","HP:0006627"],"definition":"A developmental anomaly with absence of one or more ribs.","id":"HP:0000921","name":"Missing ribs","obsolete":false,"parents":["HP:0006712"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent ribs"},{"scope":"EXACT","text":"Decreased rib number"},{"scope":"EXACT","text":"Missing ribs"}]} +{"alt_ids":["HP:0006622"],"definition":"Wide, concave posterior rib end.","id":"HP:0000922","name":"Posterior rib cupping","obsolete":false,"parents":["HP:0000887"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anterior and posterior rib cupping"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000923","name":"obsolete Beaded ribs","obsolete":true,"parents":[],"replaced_by":["HP:0006640"],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the skeletal system.","id":"HP:0000924","name":"Abnormality of the skeletal system","obsolete":false,"parents":["HP:0033127"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the skeletal system"},{"scope":"EXACT","text":"Skeletal abnormalities"},{"scope":"EXACT","text":"Skeletal anomalies"}]} +{"alt_ids":[],"definition":"Any abnormality of the vertebral column.","id":"HP:0000925","name":"Abnormality of the vertebral column","obsolete":false,"parents":["HP:0009121"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal spine"},{"scope":"EXACT","text":"Abnormal vertebral column"},{"scope":"RELATED","text":"Abnormality of the backbone"},{"scope":"EXACT","text":"Abnormality of the spine"},{"scope":"EXACT","text":"Abnormality of the vertebral column"}]} +{"alt_ids":["HP:0002940","HP:0003421","HP:0004595","HP:0004623","HP:0004627","HP:0005123","HP:0005644","HP:0008466"],"definition":"A flattened vertebral body shape with reduced distance between the vertebral endplates.","id":"HP:0000926","name":"Platyspondyly","obsolete":false,"parents":["HP:0003312"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flat vertebral bodies"},{"scope":"EXACT","text":"Flattened vertebrae"},{"scope":"EXACT","text":"Flattened vertebral bodies"}]} +{"alt_ids":[],"definition":"The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation.","id":"HP:0000927","name":"Abnormality of skeletal maturation","obsolete":false,"parents":["HP:0011843"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of skeletal maturation"}]} +{"alt_ids":[],"definition":"An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone.","id":"HP:0000929","name":"Abnormal skull morphology","obsolete":false,"parents":["HP:0000234","HP:0009121"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the skull"},{"scope":"NARROW","text":"Abnormality of the skull bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000930","name":"Elevated imprint of the transverse sinuses","obsolete":false,"parents":["HP:0002693"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated imprint of occipital bone over the transverse sinuses"},{"scope":"EXACT","text":"Elevated imprint of posterior skull bones over the transverse sinuses"},{"scope":"EXACT","text":"Thinning and bulging of occipital bone over the transverse sinuses"},{"scope":"EXACT","text":"Thinning and bulging of posterior skull bones over the transverse sinuses"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000931","name":"Thinning and bulging of the posterior fossa bones","obsolete":false,"parents":["HP:0000932"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Thinning and bulging of occipital bone of skull"},{"scope":"EXACT","text":"Thinning and bulging of posterior fossa bones"},{"scope":"EXACT","text":"Thinning and bulging of posterior skull bones"}]} +{"alt_ids":["HP:0007306"],"definition":"An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum.","id":"HP:0000932","name":"Abnormal posterior cranial fossa morphology","obsolete":false,"parents":["HP:0002693"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the posterior cranial fossa"},{"scope":"EXACT","text":"Abnormality of the posterior fossa"},{"scope":"EXACT","text":"Posterior fossa anomaly"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000933","name":"Posterior fossa cyst at the fourth ventricle","obsolete":false,"parents":["HP:0007109","HP:0007291"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .","id":"HP:0000934","name":"Chondrocalcinosis","obsolete":false,"parents":["HP:0001367","HP:0010766","HP:0100685"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Calcium deposits in joints"}]} +{"alt_ids":[],"definition":"Abnormal thickening of the cortex of long bones.","id":"HP:0000935","name":"Thickened cortex of long bones","obsolete":false,"parents":["HP:0011314","HP:0100039"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad cortex of long bones"},{"scope":"EXACT","text":"Cortical thickening of the long bones"},{"scope":"EXACT","text":"Thickened cortices of long bones"}]} +{"alt_ids":["HP:0002768","HP:0002799","HP:0002800"],"definition":"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.","id":"HP:0000938","name":"Osteopenia","obsolete":false,"parents":["HP:0004349"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised osteopenia"},{"scope":"EXACT","text":"Generalized osteopenia"},{"scope":"EXACT","text":"Osteopaenia"}]} +{"alt_ids":["HP:0002774"],"definition":"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).","id":"HP:0000939","name":"Osteoporosis","obsolete":false,"parents":["HP:0004349"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006504"],"definition":"An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.","id":"HP:0000940","name":"Abnormal diaphysis morphology","obsolete":false,"parents":["HP:0002813","HP:0011314"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of shaft of long bone"},{"scope":"EXACT","text":"Abnormality involving the diaphyses of the limbs"},{"scope":"EXACT","text":"Abnormality of shaft of long bone of the limbs"},{"scope":"EXACT","text":"Abnormality of the diaphyses"},{"scope":"EXACT","text":"Anomaly of the limb diaphyses"},{"scope":"EXACT","text":"Anomaly of the limb diaphyses morphology"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000941","name":"Short diaphyses","obsolete":false,"parents":["HP:0000940"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short shaft of long bone"}]} +{"alt_ids":["HP:0002760"],"definition":null,"id":"HP:0000943","name":"Dysostosis multiplex","obsolete":false,"parents":["HP:0011842"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006506"],"definition":"An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.","id":"HP:0000944","name":"Abnormal metaphysis morphology","obsolete":false,"parents":["HP:0002813","HP:0011314"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the wide portion of a long bone"}]} +{"alt_ids":["HP:0003176","HP:0003178"],"definition":"Underdevelopment of the ilium.","id":"HP:0000946","name":"Hypoplastic ilia","obsolete":false,"parents":["HP:0002867"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short and small iliac bones"},{"scope":"EXACT","text":"Small iliac bones"},{"scope":"BROAD","text":"Small wings of the pelvic girdle"}]} +{"alt_ids":["HP:0005061","HP:0005071","HP:0005075"],"definition":"An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses.","id":"HP:0000947","name":"Dumbbell-shaped long bone","obsolete":false,"parents":["HP:0003016"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dumbbell widening of long bone metaphyses"},{"scope":"EXACT","text":"Dumbbell-shaped long bone"}]} +{"alt_ids":["HP:0001478","HP:0001479","HP:0005591","HP:0006736","HP:0007415","HP:0007580"],"definition":"An abnormality of the skin.","id":"HP:0000951","name":"Abnormality of the skin","obsolete":false,"parents":["HP:0001574"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the skin"},{"scope":"EXACT","text":"Dermatopathy"},{"scope":"EXACT","text":"Dermopathy"},{"scope":"RELATED","text":"Skin abnormality"}]} +{"alt_ids":[],"definition":"Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.","id":"HP:0000952","name":"Jaundice","obsolete":false,"parents":["HP:0001005","HP:0001396"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Icterus"},{"scope":"EXACT","text":"Jaundice"},{"scope":"EXACT","text":"Yellow skin"},{"scope":"EXACT","text":"Yellowing of the skin"}]} +{"alt_ids":["HP:0007527"],"definition":"A darkening of the skin related to an increase in melanin production and deposition.","id":"HP:0000953","name":"Hyperpigmentation of the skin","obsolete":false,"parents":["HP:0001000"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cutaneous hyperpigmentation"},{"scope":"EXACT","text":"Hyperpigmented lesion"},{"scope":"EXACT","text":"Increased skin pigmentation"},{"scope":"RELATED","text":"Melanoderma"},{"scope":"RELATED","text":"Melanodermia"},{"scope":"EXACT","text":"Patchy darkened skin"},{"scope":"EXACT","text":"Skin hyperpigmentation"}]} +{"alt_ids":["HP:0006214"],"definition":"The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.","id":"HP:0000954","name":"Single transverse palmar crease","obsolete":false,"parents":["HP:0010490"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Simian crease"},{"scope":"EXACT","text":"Simian creases"},{"scope":"EXACT","text":"Simian line"},{"scope":"EXACT","text":"Single flexion crease"},{"scope":"EXACT","text":"Single palmar crease"},{"scope":"EXACT","text":"Single palmar creases"},{"scope":"EXACT","text":"Single transverse palmar creases"},{"scope":"EXACT","text":"Transverse palmar crease"}]} +{"alt_ids":["HP:0007498","HP:0007518","HP:0007591"],"definition":"A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.","id":"HP:0000956","name":"Acanthosis nigricans","obsolete":false,"parents":["HP:0011368"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Darkened and thickened skin"},{"scope":"EXACT","text":"Keratosis nigricans"}]} +{"alt_ids":["HP:0005601","HP:0007454"],"definition":"Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.","id":"HP:0000957","name":"Cafe-au-lait spot","obsolete":false,"parents":["HP:0001034"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Birthmark"},{"scope":"EXACT","text":"Cafe au lait spots"},{"scope":"EXACT","text":"Cafe-au-lait macule"},{"scope":"EXACT","text":"Cafe-au-lait macules"},{"scope":"RELATED","text":"Cafe-au-lait spots"},{"scope":"BROAD","text":"Flat light-brown mark on skin"}]} +{"alt_ids":[],"definition":"Skin characterized by the lack of natural or normal moisture.","id":"HP:0000958","name":"Dry skin","obsolete":false,"parents":["HP:0011121"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dry skin"},{"scope":"EXACT","text":"Xerosis"}]} +{"alt_ids":[],"definition":"A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.","id":"HP:0000960","name":"Sacral dimple","obsolete":false,"parents":["HP:0010767","HP:0010781"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pilonidal dimple"},{"scope":"EXACT","text":"Spinal dimple"}]} +{"alt_ids":[],"definition":"Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.","id":"HP:0000961","name":"Cyanosis","obsolete":false,"parents":["HP:0001005"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blue discoloration of the skin"}]} +{"alt_ids":["HP:0007523","HP:0007543"],"definition":"Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes.","id":"HP:0000962","name":"Hyperkeratosis","obsolete":false,"parents":["HP:0011368"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Epidermal hyperkeratosis"}]} +{"alt_ids":["HP:0001020"],"definition":"Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.","id":"HP:0000963","name":"Thin skin","obsolete":false,"parents":["HP:0008065"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thin skin"}]} +{"alt_ids":["HP:0000976","HP:0001481"],"definition":"Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.","id":"HP:0000964","name":"Eczematoid dermatitis","obsolete":false,"parents":["HP:0011123"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Dermatitis"},{"scope":"EXACT","text":"Eczema"}]} +{"alt_ids":["HP:0001037"],"definition":"A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.","id":"HP:0000965","name":"Cutis marmorata","obsolete":false,"parents":["HP:0011276"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007551","HP:0007571"],"definition":"Abnormally diminished capacity to sweat.","id":"HP:0000966","name":"Hypohidrosis","obsolete":false,"parents":["HP:0007550"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased ability to sweat"},{"scope":"EXACT","text":"Decreased sweating"},{"scope":"EXACT","text":"Impaired sweating"},{"scope":"EXACT","text":"Inadequate sweating"},{"scope":"EXACT","text":"Oligohidrosis"},{"scope":"EXACT","text":"Sweating, decreased"}]} +{"alt_ids":[],"definition":"Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.","id":"HP:0000967","name":"Petechiae","obsolete":false,"parents":["HP:0031365"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007436","HP:0007476","HP:0007529","HP:0007607","HP:0007615"],"definition":"Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.","id":"HP:0000968","name":"Ectodermal dysplasia","obsolete":false,"parents":["HP:0011354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0000990"],"definition":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","id":"HP:0000969","name":"Edema","obsolete":false,"parents":["HP:0011032"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dropsy"},{"scope":"EXACT","text":"Fluid retention"},{"scope":"EXACT","text":"Hydrops"},{"scope":"EXACT","text":"Oedema"},{"scope":"BROAD","text":"Soft tissue swelling"},{"scope":"EXACT","text":"Water retention"}]} +{"alt_ids":[],"definition":"Inability to sweat.","id":"HP:0000970","name":"Anhidrosis","obsolete":false,"parents":["HP:0025276"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anhydrosis"},{"scope":"EXACT","text":"Lack of sweating"},{"scope":"EXACT","text":"Sudomotor dysfunction"},{"scope":"EXACT","text":"Sweating dysfunction"}]} +{"alt_ids":[],"definition":"Any structural abnormality of the sweat gland.","id":"HP:0000971","name":"Abnormal sweat gland morphology","obsolete":false,"parents":["HP:0011138"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormalities of sweating"},{"scope":"EXACT","text":"Abnormality of the sweat gland"},{"scope":"RELATED","text":"Sweat gland disease"}]} +{"alt_ids":["HP:0007548"],"definition":"Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.","id":"HP:0000972","name":"Palmoplantar hyperkeratosis","obsolete":false,"parents":["HP:0007556","HP:0010765"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperkeratosis of palms and soles"},{"scope":"EXACT","text":"Hyperkeratosis of the palms and soles"},{"scope":"EXACT","text":"Palmoplantar keratoses"},{"scope":"EXACT","text":"Palmoplantar keratosis"},{"scope":"EXACT","text":"Thick palms and soles"},{"scope":"EXACT","text":"Thickened palms and soles"},{"scope":"EXACT","text":"Thickening of the outer layer of the skin of the palms and soles"}]} +{"alt_ids":[],"definition":"Wrinkled, redundant, inelastic and sagging skin.","id":"HP:0000973","name":"Cutis laxa","obsolete":false,"parents":["HP:0008067"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chalazoderma"},{"scope":"EXACT","text":"Cutaneous laxity"},{"scope":"EXACT","text":"Dermatochalasia"},{"scope":"EXACT","text":"Dermatomegaly"},{"scope":"EXACT","text":"Elastolysis"},{"scope":"EXACT","text":"Generalised elastolysis"},{"scope":"EXACT","text":"Generalized elastolysis"},{"scope":"BROAD","text":"Hanging skin"},{"scope":"EXACT","text":"Hypoelastic skin"},{"scope":"EXACT","text":"Inelastic skin"},{"scope":"EXACT","text":"Lax skin"},{"scope":"EXACT","text":"Loose and inelastic skin"},{"scope":"EXACT","text":"Loose skin"},{"scope":"EXACT","text":"Skin laxity"}]} +{"alt_ids":["HP:0007389","HP:0007493","HP:0007578"],"definition":"A condition in which the skin can be stretched beyond normal, and then returns to its initial position.","id":"HP:0000974","name":"Hyperextensible skin","obsolete":false,"parents":["HP:0008067"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperelastic skin"},{"scope":"EXACT","text":"Skin hyperelasticity"},{"scope":"EXACT","text":"Skin hyperextensibility"},{"scope":"EXACT","text":"Stretchable skin"}]} +{"alt_ids":["HP:0001011","HP:0001064","HP:0007424"],"definition":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.","id":"HP:0000975","name":"Hyperhidrosis","obsolete":false,"parents":["HP:0007550"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Diaphoresis"},{"scope":"EXACT","text":"Excessive sweating"},{"scope":"EXACT","text":"Increased sweating"},{"scope":"EXACT","text":"Profuse sweating"},{"scope":"EXACT","text":"Sweating"},{"scope":"EXACT","text":"Sweating profusely"},{"scope":"EXACT","text":"Sweating, increased"}]} +{"alt_ids":[],"definition":null,"id":"HP:0000976","name":"obsolete Eczematoid dermatitis","obsolete":true,"parents":[],"replaced_by":["HP:0000964"],"synonyms":[]} +{"alt_ids":[],"definition":"Subjective impression of increased softness upon palpation of the skin.","id":"HP:0000977","name":"Soft skin","obsolete":false,"parents":["HP:0010647"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Soft skin"},{"scope":"RELATED","text":"Velvety skin"},{"scope":"RELATED","text":"Velvety skin texture"}]} +{"alt_ids":["HP:0000959","HP:0007433","HP:0007472"],"definition":"An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.","id":"HP:0000978","name":"Bruising susceptibility","obsolete":false,"parents":["HP:0001933"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bruisability"},{"scope":"EXACT","text":"Bruise easily"},{"scope":"EXACT","text":"Bruising susceptibility"},{"scope":"EXACT","text":"Easy bruisability"},{"scope":"EXACT","text":"Easy bruising"}]} +{"alt_ids":[],"definition":"Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.","id":"HP:0000979","name":"Purpura","obsolete":false,"parents":["HP:0001933"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Blood spots"},{"scope":"EXACT","text":"Red or purple spots on the skin"}]} +{"alt_ids":[],"definition":"Abnormally pale skin.","id":"HP:0000980","name":"Pallor","obsolete":false,"parents":["HP:0011121"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Paleness"},{"scope":"RELATED","text":"Skin paleness"}]} +{"alt_ids":[],"definition":"Abnormal thickening of the skin of the palms of the hands and the soles of the feet.","id":"HP:0000982","name":"Palmoplantar keratoderma","obsolete":false,"parents":["HP:0000972"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Keratoderma"},{"scope":"EXACT","text":"Palmar and plantar keratoderma"},{"scope":"EXACT","text":"Thickening of palms and soles"}]} +{"alt_ids":[],"definition":"Atypically scarred skin .","id":"HP:0000987","name":"Atypical scarring of skin","obsolete":false,"parents":["HP:0011355","HP:0100699"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atypical scarring"},{"scope":"EXACT","text":"Atypical scarring of skin"}]} +{"alt_ids":[],"definition":"A red eruption of the skin.","id":"HP:0000988","name":"Skin rash","obsolete":false,"parents":["HP:0011123"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Rash"},{"scope":"EXACT","text":"Skin rash"}]} +{"alt_ids":[],"definition":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","id":"HP:0000989","name":"Pruritus","obsolete":false,"parents":["HP:0011122"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Itching"},{"scope":"EXACT","text":"Itchy skin"},{"scope":"EXACT","text":"Skin itching"}]} +{"alt_ids":[],"definition":"The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.","id":"HP:0000991","name":"Xanthomatosis","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Xanthomata"},{"scope":"EXACT","text":"Yellow bumps of fatty deposits on skin"}]} +{"alt_ids":["HP:0005594","HP:0006831","HP:0007538"],"definition":"An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.","id":"HP:0000992","name":"Cutaneous photosensitivity","obsolete":false,"parents":["HP:0011354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Photosensitive skin"},{"scope":"EXACT","text":"Photosensitive skin rashes"},{"scope":"EXACT","text":"Photosensitivity"},{"scope":"EXACT","text":"Sensitivity to sunlight"},{"scope":"EXACT","text":"Skin photosensitivity"},{"scope":"EXACT","text":"Sun sensitivity"}]} +{"alt_ids":[],"definition":"Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees.","id":"HP:0000993","name":"Molluscoid pseudotumors","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Molluscoid pseudotumor"}]} +{"alt_ids":[],"definition":"A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.","id":"HP:0000995","name":"Melanocytic nevus","obsolete":false,"parents":["HP:0003764"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Beauty mark"},{"scope":"EXACT","text":"Melanocytic naevus"},{"scope":"EXACT","text":"Melanocytic nevi"},{"scope":"EXACT","text":"Nevocellular nevi"},{"scope":"BROAD","text":"Noncancerous mole"},{"scope":"EXACT","text":"Pigmented naevi"},{"scope":"EXACT","text":"Pigmented nevi"}]} +{"alt_ids":[],"definition":"Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face.","id":"HP:0000996","name":"Facial capillary hemangioma","obsolete":false,"parents":["HP:0000329","HP:0005306"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.","id":"HP:0000997","name":"Axillary freckling","obsolete":false,"parents":["HP:0001480"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hypertrichosis is increased hair growth that is abnormal in quantity or location.","id":"HP:0000998","name":"Hypertrichosis","obsolete":false,"parents":["HP:0011362"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Excessive hair growth"},{"scope":"BROAD","text":"Increased hair growth on body"}]} +{"alt_ids":[],"definition":"Any manifestation of a skin disease associated with the production of pus.","id":"HP:0000999","name":"Pyoderma","obsolete":false,"parents":["HP:0005406"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pus-filled lesion"}]} +{"alt_ids":["HP:0005587","HP:0007582","HP:0200045"],"definition":"An abnormality of the pigmentation of the skin.","id":"HP:0001000","name":"Abnormal skin pigmentation","obsolete":false,"parents":["HP:0011121"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal pigmentation"},{"scope":"EXACT","text":"Abnormal skin pigmentation"},{"scope":"EXACT","text":"Abnormality of pigmentation"},{"scope":"EXACT","text":"Abnormality of skin pigmentation"},{"scope":"EXACT","text":"Pigmentary changes"},{"scope":"EXACT","text":"Pigmentary skin changes"},{"scope":"EXACT","text":"Pigmentation anomaly"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001001","name":"Abnormality of subcutaneous fat tissue","obsolete":false,"parents":["HP:0009124","HP:0011354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of fatty tissue below the skin"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001002","name":"obsolete Decreased subcutaneous fat","obsolete":true,"parents":[],"replaced_by":["HP:0003758"],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots.","id":"HP:0001003","name":"Multiple lentigines","obsolete":false,"parents":["HP:0001034"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Liver spots"}]} +{"alt_ids":["HP:0003605"],"definition":"Localized fluid retention and tissue swelling caused by a compromised lymphatic system.","id":"HP:0001004","name":"Lymphedema","obsolete":false,"parents":["HP:0000969"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lymphatic obstruction"},{"scope":"EXACT","text":"Lymphoedema"},{"scope":"EXACT","text":"Onset of lymphedema around puberty"},{"scope":"EXACT","text":"Swelling caused by excess lymph fluid under skin"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001005","name":"Dermatological manifestations of systemic disorders","obsolete":false,"parents":["HP:0011354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001006","name":"obsolete Hypotrichosis","obsolete":true,"parents":[],"replaced_by":["HP:0008070"],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).","id":"HP:0001007","name":"Hirsutism","obsolete":false,"parents":["HP:0011362"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excessive hairiness"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001008","name":"Accumulation of melanosomes in melanocytes","obsolete":false,"parents":["HP:0011125"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001079"],"definition":"Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.","id":"HP:0001009","name":"Telangiectasia","obsolete":false,"parents":["HP:0011276"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Spider veins"},{"scope":"EXACT","text":"Telangiectases"}]} +{"alt_ids":["HP:0005589","HP:0007604","HP:0007622"],"definition":"A reduction of skin color related to a decrease in melanin production and deposition.","id":"HP:0001010","name":"Hypopigmentation of the skin","obsolete":false,"parents":["HP:0001000"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypopigmentation"},{"scope":"EXACT","text":"Hypopigmented skin"},{"scope":"EXACT","text":"Patchy lightened skin"},{"scope":"RELATED","text":"Skin hypopigmentation"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001011","name":"obsolete Diaphoresis (with pheochromocytoma)","obsolete":true,"parents":[],"replaced_by":["HP:0000975"],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of multiple lipomas (a type of benign tissue made of fatty tissue).","id":"HP:0001012","name":"Multiple lipomas","obsolete":false,"parents":["HP:0012031"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Lipomas"},{"scope":"EXACT","text":"Lipomata"},{"scope":"RELATED","text":"Lipomatosis"},{"scope":"EXACT","text":"Multiple fatty lumps"}]} +{"alt_ids":[],"definition":"Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur.","id":"HP:0001013","name":"Eruptive xanthomas","obsolete":false,"parents":["HP:0000991"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot.","id":"HP:0001014","name":"Angiokeratoma","obsolete":false,"parents":["HP:0011276"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Angiokeratomas"}]} +{"alt_ids":[],"definition":"A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticeable than normal.","id":"HP:0001015","name":"Prominent superficial veins","obsolete":false,"parents":["HP:0002624","HP:0007394"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Marked subcutaneous veins"},{"scope":"EXACT","text":"Prominent veins"}]} +{"alt_ids":[],"definition":"A type of pallor that is secondary to the presence of anemia.","id":"HP:0001017","name":"Anemic pallor","obsolete":false,"parents":["HP:0000980"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anaemic pallor"}]} +{"alt_ids":[],"definition":"An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand.","id":"HP:0001018","name":"Abnormal palmar dermatoglyphics","obsolete":false,"parents":["HP:0007477","HP:0040211"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.","id":"HP:0001019","name":"Erythroderma","obsolete":false,"parents":["HP:0011123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Exfoliative dermititis"},{"scope":"EXACT","text":"Generalised erythroderma"},{"scope":"EXACT","text":"Generalised erythrodermia"},{"scope":"EXACT","text":"Generalized erythroderma"},{"scope":"EXACT","text":"Generalized erythrodermia"},{"scope":"BROAD","text":"Red scaly skin caused by inflammatory skin disease"}]} +{"alt_ids":[],"definition":"An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).","id":"HP:0001022","name":"Albinism","obsolete":false,"parents":["HP:0005599","HP:0007513"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Achromasia"},{"scope":"EXACT","text":"Albinism"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001024","name":"Skin dimple over apex of long bone angulation","obsolete":false,"parents":["HP:0010781"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.","id":"HP:0001025","name":"Urticaria","obsolete":false,"parents":["HP:0011276"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hives"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001026","name":"Penetrating foot ulcers","obsolete":false,"parents":["HP:0200042"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Penetrating foot ulcers"}]} +{"alt_ids":[],"definition":"A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.","id":"HP:0001027","name":"Soft, doughy skin","obsolete":false,"parents":["HP:0000977"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Soft, doughy skin"}]} +{"alt_ids":["HP:0007444"],"definition":"A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).","id":"HP:0001028","name":"Hemangioma","obsolete":false,"parents":["HP:0100742"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Hemangiomata"},{"scope":"EXACT","text":"Strawberry mark"}]} +{"alt_ids":[],"definition":"Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.","id":"HP:0001029","name":"Poikiloderma","obsolete":false,"parents":["HP:0011121"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Skin that splits easily with minimal injury.","id":"HP:0001030","name":"Fragile skin","obsolete":false,"parents":["HP:0011354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragile skin"},{"scope":"EXACT","text":"Skin fragility"}]} +{"alt_ids":[],"definition":"The presence of subcutaneous lipoma.","id":"HP:0001031","name":"Subcutaneous lipoma","obsolete":false,"parents":["HP:0001001","HP:0001012","HP:0008069"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the distal interphalangeal flexion creases of the fingers.","id":"HP:0001032","name":"Absent distal interphalangeal creases","obsolete":false,"parents":["HP:0006109"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of skin creases over distal interphalangeal joints"},{"scope":"EXACT","text":"Aplasia of the distal interphalangeal creases"},{"scope":"EXACT","text":"Distal finger flexion creases absent"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001033","name":"Facial flushing after alcohol intake","obsolete":false,"parents":["HP:0031284"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Facial flushing after alcohol intake"}]} +{"alt_ids":["HP:0007442","HP:0007491","HP:0007492","HP:0100815","HP:0200031","HP:0200033"],"definition":"A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.","id":"HP:0001034","name":"Hypermelanotic macule","obsolete":false,"parents":["HP:0007400","HP:0012733"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperpigmented macules"},{"scope":"RELATED","text":"Hyperpigmented skin patches"},{"scope":"EXACT","text":"Hyperpigmented spots"}]} +{"alt_ids":[],"definition":"Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.","id":"HP:0001036","name":"Parakeratosis","obsolete":false,"parents":["HP:0011368"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001038","name":"Warfarin-induced skin necrosis","obsolete":false,"parents":["HP:0001005"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001039","name":"Atheroeruptive xanthoma","obsolete":false,"parents":["HP:0000991"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001040","name":"Multiple pterygia","obsolete":false,"parents":["HP:0001059"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001068"],"definition":"Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.","id":"HP:0001041","name":"Facial erythema","obsolete":false,"parents":["HP:0010783"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blushed cheeks"},{"scope":"EXACT","text":"Blushing"},{"scope":"EXACT","text":"Red face"},{"scope":"EXACT","text":"Red in the face"},{"scope":"NARROW","text":"Rosacea"},{"scope":"RELATED","text":"Ruddy face"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001042","name":"High axial triradius","obsolete":false,"parents":["HP:0001018"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001043","name":"Prominent scalp veins","obsolete":false,"parents":["HP:0001015","HP:0001965","HP:3000036"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prominent scalp veins"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001045","name":"Vitiligo","obsolete":false,"parents":["HP:0001000"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blotchy loss of skin color"},{"scope":"EXACT","text":"Blotchy loss of skin colour"}]} +{"alt_ids":[],"definition":"Jaundice that is sometimes present, sometimes not.","id":"HP:0001046","name":"Intermittent jaundice","obsolete":false,"parents":["HP:0000952"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intermittent icterus"},{"scope":"EXACT","text":"Intermittent yellow skin"},{"scope":"EXACT","text":"Intermittent yellowing of skin"}]} +{"alt_ids":["HP:0007533","HP:0007564"],"definition":"Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.","id":"HP:0001047","name":"Atopic dermatitis","obsolete":false,"parents":["HP:0000964"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Allergic eczema"},{"scope":"EXACT","text":"Atopic dermatitis, chronic"},{"scope":"EXACT","text":"Atopic eczema"},{"scope":"RELATED","text":"Baby eczema"},{"scope":"EXACT","text":"Dermatitis, Atopic"},{"scope":"EXACT","text":"Infantile eczema"},{"scope":"EXACT","text":"Neurodermatitis"},{"scope":"EXACT","text":"Prurigo Besnier"}]} +{"alt_ids":[],"definition":"The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma.","id":"HP:0001048","name":"Cavernous hemangioma","obsolete":false,"parents":["HP:0001028"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cavernous angioma"},{"scope":"EXACT","text":"Cavernous haemangioma"},{"scope":"EXACT","text":"Collection of dilated blood vessels that forms mass"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001049","name":"Absent dorsal skin creases over affected joints","obsolete":false,"parents":["HP:0006143"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001050","name":"Plethora","obsolete":false,"parents":["HP:0001005"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007562"],"definition":"Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.","id":"HP:0001051","name":"Seborrheic dermatitis","obsolete":false,"parents":["HP:0000964"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Dysseborrheic dermatitis"},{"scope":"EXACT","text":"Seborrhea"},{"scope":"EXACT","text":"Seborrheic eczema"}]} +{"alt_ids":[],"definition":"A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.","id":"HP:0001052","name":"Nevus flammeus","obsolete":false,"parents":["HP:0003764","HP:0025104"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nevus simplex"},{"scope":"EXACT","text":"port-wine stain"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001053","name":"Hypopigmented skin patches","obsolete":false,"parents":["HP:0001010","HP:0011355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Patchy loss of skin color"},{"scope":"EXACT","text":"Patchy loss of skin colour"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001054","name":"Numerous nevi","obsolete":false,"parents":["HP:0003764"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multiple pigmented nevi"},{"scope":"EXACT","text":"Numerous moles"}]} +{"alt_ids":[],"definition":"Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system.","id":"HP:0001055","name":"Erysipelas","obsolete":false,"parents":["HP:0011123"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"St. Anthony's Fire"}]} +{"alt_ids":[],"definition":"Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.","id":"HP:0001056","name":"Milia","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Milk spot"},{"scope":"EXACT","text":"Millium cyst"}]} +{"alt_ids":[],"definition":"A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs.","id":"HP:0001057","name":"Aplasia cutis congenita","obsolete":false,"parents":["HP:0008065"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of part of skin at birth"},{"scope":"EXACT","text":"Congenital absence of skin"},{"scope":"BROAD","text":"Congenital scars"},{"scope":"EXACT","text":"Cutis aplasia"}]} +{"alt_ids":[],"definition":"A reduced ability to heal cutaneous wounds.","id":"HP:0001058","name":"Poor wound healing","obsolete":false,"parents":["HP:0011354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Poor wound healing"}]} +{"alt_ids":[],"definition":"Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.","id":"HP:0001059","name":"Pterygium","obsolete":false,"parents":["HP:0001367","HP:0011356"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pterygia"}]} +{"alt_ids":[],"definition":"Presence of a cutaneous membrane (flap) in the armpit.","id":"HP:0001060","name":"Axillary pterygium","obsolete":false,"parents":["HP:0001059"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Axillary pterygia"}]} +{"alt_ids":["HP:0005596"],"definition":"A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).","id":"HP:0001061","name":"Acne","obsolete":false,"parents":["HP:0011123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acne"},{"scope":"BROAD","text":"Breaking out"}]} +{"alt_ids":[],"definition":"A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink.","id":"HP:0001062","name":"Atypical nevus","obsolete":false,"parents":["HP:0003764"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atypical mole"},{"scope":"RELATED","text":"Dysplastic Nevus"}]} +{"alt_ids":[],"definition":"Bluish discoloration of the skin of the hands or feet.","id":"HP:0001063","name":"Acrocyanosis","obsolete":false,"parents":["HP:0034033"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Persistent blue color of hands or feet"},{"scope":"EXACT","text":"Persistent blue colour of hands or feet"}]} +{"alt_ids":["HP:0001023","HP:0001066","HP:0100680"],"definition":"Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.","id":"HP:0001065","name":"Striae distensae","obsolete":false,"parents":["HP:0004334","HP:0100679"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Purplish striae"},{"scope":"EXACT","text":"Stretch marks"},{"scope":"EXACT","text":"Striae"},{"scope":"EXACT","text":"Striae atrophicae"},{"scope":"EXACT","text":"Striae cutis distensae"}]} +{"alt_ids":["HP:0006746","HP:0007386","HP:0007612","HP:0009595"],"definition":"A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas.","id":"HP:0001067","name":"Neurofibroma","obsolete":false,"parents":["HP:0008069","HP:0010614","HP:0100007"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neurofibromata"},{"scope":"EXACT","text":"Neurofibromatosis"},{"scope":"RELATED","text":"multiple neurofibromas"}]} +{"alt_ids":[],"definition":"Intermittent episodes of abnormally increased perspiration.","id":"HP:0001069","name":"Episodic hyperhidrosis","obsolete":false,"parents":["HP:0000975"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperhidrosis, episodic"},{"scope":"EXACT","text":"Sporadic excessive sweating"}]} +{"alt_ids":["HP:0007584"],"definition":"Patchy and irregular skin pigmentation.","id":"HP:0001070","name":"Mottled pigmentation","obsolete":false,"parents":["HP:0001000"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mottled skin coloring"},{"scope":"EXACT","text":"Mottled skin colouring"},{"scope":"RELATED","text":"Stippled pigmentation"}]} +{"alt_ids":[],"definition":"Angiokeratoma corporis diffusum (ACD) is typically characterized by innumerable small red to black papules which occur in clusters and are situated symmetrically in the bathing trunks area. The number of lesions and the extension of the body increase steadily with time so that generalization and mucosal involvement are common. The single lesion begins with a minute reddish papule which enlarges to up to 10 mm in diameter, becomes dark red to black with a discrete keratotic overgrowth. Histologically, the papules are characterized by superficial dilated capillaries in papillary dermis with epidermal proliferation.","id":"HP:0001071","name":"Angiokeratoma corporis diffusum","obsolete":false,"parents":["HP:0001014"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fabry syndrome"}]} +{"alt_ids":["HP:0007393"],"definition":"Laminar thickening of skin.","id":"HP:0001072","name":"Thickened skin","obsolete":false,"parents":["HP:0011121"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Diffusely thickened skin"},{"scope":"EXACT","text":"Pachydermia"},{"scope":"EXACT","text":"Thick skin"},{"scope":"EXACT","text":"Thickened skin"}]} +{"alt_ids":[],"definition":"Thin (atrophic) and wide scars.","id":"HP:0001073","name":"Cigarette-paper scars","obsolete":false,"parents":["HP:0001075"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cigarette paper scarring"},{"scope":"EXACT","text":"Cigarette-paper scars"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001074","name":"Atypical nevi in non-sun exposed areas","obsolete":false,"parents":["HP:0003764"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007567"],"definition":"Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.","id":"HP:0001075","name":"Atrophic scars","obsolete":false,"parents":["HP:0000987","HP:0004334"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sunken or indented skin due to damage"},{"scope":"EXACT","text":"Thin, atrophic scars"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001076","name":"Glabellar hemangioma","obsolete":false,"parents":["HP:0001028"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Glabellar capillary hemangioma"}]} +{"alt_ids":[],"definition":"An abnormality of the biliary tree.","id":"HP:0001080","name":"Biliary tract abnormality","obsolete":false,"parents":["HP:0004297"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Biliary tract disease"}]} +{"alt_ids":[],"definition":"Hard, pebble-like deposits that form within the gallbladder.","id":"HP:0001081","name":"Cholelithiasis","obsolete":false,"parents":["HP:0012437"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gallstones"}]} +{"alt_ids":[],"definition":"The presence of inflammatory changes in the gallbladder.","id":"HP:0001082","name":"Cholecystitis","obsolete":false,"parents":["HP:0012438","HP:0032166"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gallbladder inflammation"},{"scope":"EXACT","text":"Recurrent cholecystitis"},{"scope":"EXACT","text":"Unusual cholecystitis"}]} +{"alt_ids":["HP:0000665","HP:0007637","HP:0007882","HP:0008016"],"definition":"Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.","id":"HP:0001083","name":"Ectopia lentis","obsolete":false,"parents":["HP:0000517"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of lens position"},{"scope":"EXACT","text":"Lens dislocation"}]} +{"alt_ids":["HP:0100741"],"definition":"A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years.","id":"HP:0001084","name":"Corneal arcus","obsolete":false,"parents":["HP:0008011"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anterior embryotoxon"},{"scope":"RELATED","text":"Arcus juvenilis"},{"scope":"EXACT","text":"Arcus lipoidis"},{"scope":"EXACT","text":"Arcus senilis"},{"scope":"EXACT","text":"Corneal annulus"},{"scope":"EXACT","text":"Gerontoxon"}]} +{"alt_ids":["HP:0001130"],"definition":"Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.","id":"HP:0001085","name":"Papilledema","obsolete":false,"parents":["HP:0012795"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Papillitis"}]} +{"alt_ids":[],"definition":"Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma.","id":"HP:0001087","name":"Developmental glaucoma","obsolete":false,"parents":["HP:0000501","HP:0007700"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Childhood glaucoma"},{"scope":"EXACT","text":"Infantile glaucoma"},{"scope":"EXACT","text":"Paediatric glaucoma"},{"scope":"EXACT","text":"Pediatric glaucoma"}]} +{"alt_ids":[],"definition":"The presence of whitish spots in a ring-like arrangement at the periphery of the iris.","id":"HP:0001088","name":"Brushfield spots","obsolete":false,"parents":["HP:0008034"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Iris brushfield spots"},{"scope":"RELATED","text":"Speckled iris"}]} +{"alt_ids":[],"definition":"Loss of iris tissue (atrophy)","id":"HP:0001089","name":"Iris atrophy","obsolete":false,"parents":["HP:0000525"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Iris degeneration"}]} +{"alt_ids":["HP:0200093"],"definition":"Diffusely large eye (with megalocornea) without glaucoma.","id":"HP:0001090","name":"Abnormally large globe","obsolete":false,"parents":["HP:0100887"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased size of eyes"},{"scope":"RELATED","text":"Increased size of palpebral fissures"},{"scope":"RELATED","text":"Large eyeballs"},{"scope":"EXACT","text":"Large eyes"},{"scope":"RELATED","text":"Large of palpebral fissures"},{"scope":"EXACT","text":"Megalophthalmos"}]} +{"alt_ids":["HP:0007977"],"definition":"No identifiable superior and/or inferior lacrimal punctum.","id":"HP:0001092","name":"Absent lacrimal punctum","obsolete":false,"parents":["HP:0011479"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent lacrimal gland puncta"},{"scope":"EXACT","text":"Absent lacrimal openings"},{"scope":"EXACT","text":"Absent lacrimal puncta"},{"scope":"RELATED","text":"Agenesis of the lacrimal punctum"},{"scope":"EXACT","text":"Aplasia of lacrimal puncta"},{"scope":"EXACT","text":"Lacrimal puncta aplasia"},{"scope":"EXACT","text":"Lacrimal punctum, absence"}]} +{"alt_ids":[],"definition":"The presence of developmental dysplasia of the optic nerve.","id":"HP:0001093","name":"Optic nerve dysplasia","obsolete":false,"parents":["HP:0000587"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body.","id":"HP:0001094","name":"Iridocyclitis","obsolete":false,"parents":["HP:0012122"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Condition of the retina, secondary to severe systemic arterial hypertension which can be acute or longstanding. Features include one or several of the following: retinal vascular tortuosity, arteriovenous crossing signs, retinal cotton wool spot and intraretinal hemorrhages. It can be associated with optic disc swelling.","id":"HP:0001095","name":"Hypertensive retinopathy","obsolete":false,"parents":["HP:0008046"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the cornea and conjunctiva.","id":"HP:0001096","name":"Keratoconjunctivitis","obsolete":false,"parents":["HP:0000491","HP:0000509"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.","id":"HP:0001097","name":"Keratoconjunctivitis sicca","obsolete":false,"parents":["HP:0001096"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Dry eye syndrome"},{"scope":"EXACT","text":"Dry eyes"},{"scope":"EXACT","text":"Keratitis sicca"},{"scope":"EXACT","text":"Xerophthalmia"}]} +{"alt_ids":[],"definition":"Any structural abnormality of the fundus of the eye.","id":"HP:0001098","name":"Abnormal fundus morphology","obsolete":false,"parents":["HP:0004329"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the fundus"}]} +{"alt_ids":[],"definition":"Well-defined or diffused area or lesion of loss of normal retinal tissue; this is often illustrated by greyish discoloration of fundus and/or better visible choroidal vasculature on funduscopy.","id":"HP:0001099","name":"Atrophic fundus lesion","obsolete":false,"parents":["HP:0001098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fundus atrophy"}]} +{"alt_ids":[],"definition":"Heterochromia iridis is a difference in the color of the iris in the two eyes.","id":"HP:0001100","name":"Heterochromia iridis","obsolete":false,"parents":["HP:0200064"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Different colored eyes"},{"scope":"EXACT","text":"Different coloured eyes"},{"scope":"EXACT","text":"Heterochromia irides"}]} +{"alt_ids":[],"definition":"Inflammation of the iris.","id":"HP:0001101","name":"Iritis","obsolete":false,"parents":["HP:0000525"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inflammation of iris"}]} +{"alt_ids":[],"definition":"Irregular lines in the outer retina and Bruch membrane that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but can be idiopathic. They can be associated with neovascular complexes (choroid).","id":"HP:0001102","name":"Angioid streaks","obsolete":false,"parents":["HP:0000479"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Angioid streaks of the fundus"},{"scope":"EXACT","text":"Angioid streaks of the retina"},{"scope":"EXACT","text":"Angioid streaks, retina"},{"scope":"EXACT","text":"Knapp streaks"},{"scope":"EXACT","text":"Laquer cracks of the retina"}]} +{"alt_ids":[],"definition":"A structural abnormality of the macula, a region that, in a clinical context, is typically used to describe the central part of the retina within the vascular arcades.","id":"HP:0001103","name":"Abnormal macular morphology","obsolete":false,"parents":["HP:0000479"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the macula"},{"scope":"EXACT","text":"Macula abnormality"},{"scope":"EXACT","text":"Macular abnormality"}]} +{"alt_ids":[],"definition":"Underdevelopment of the macula lutea.","id":"HP:0001104","name":"Macular hypoplasia","obsolete":false,"parents":["HP:0008059"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells.","id":"HP:0001105","name":"Retinal atrophy","obsolete":false,"parents":["HP:0000546"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased pigmentation of the skin in the region surrounding the orbit of the eye.","id":"HP:0001106","name":"Periorbital hyperpigmentation","obsolete":false,"parents":["HP:0000606","HP:0001000"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dark circles around the eyes"},{"scope":"EXACT","text":"Dark circles under the eyes"},{"scope":"EXACT","text":"Darkening around the eyes"},{"scope":"EXACT","text":"Idiopathic cutaneous hyperchromia at the orbital region"},{"scope":"EXACT","text":"Infraorbital pigmentation"},{"scope":"EXACT","text":"Periorbital melanosis"},{"scope":"EXACT","text":"Pigmentation around the eyes"}]} +{"alt_ids":["HP:0007745","HP:0007837"],"definition":"An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.","id":"HP:0001107","name":"Ocular albinism","obsolete":false,"parents":["HP:0001098","HP:0007730"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent pigmentation in the eye"},{"scope":"EXACT","text":"Albinism, Ocular"}]} +{"alt_ids":["HP:0001086"],"definition":"Degeneration of retinal ganglion cells and their axons.","id":"HP:0001112","name":"Leber optic atrophy","obsolete":false,"parents":["HP:0000587"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Leber optic atrophy features"},{"scope":"EXACT","text":"Leber optic degeneration"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001113","name":"obsolete Early cataracts","obsolete":true,"parents":[],"replaced_by":["HP:0000518"],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of xanthomata in the skin of the eyelid.","id":"HP:0001114","name":"Xanthelasma","obsolete":false,"parents":["HP:0000991","HP:0010732"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fatty deposits in skin around the eyes"},{"scope":"EXACT","text":"Fatty deposits on eyelids"},{"scope":"NARROW","text":"Xanthelasma of eyelid"},{"scope":"NARROW","text":"Xanthelasma of periocular region"},{"scope":"EXACT","text":"Xanthelasma palpebrarum"},{"scope":"EXACT","text":"Xanthoma"},{"scope":"NARROW","text":"Xanthoma of eyelid"},{"scope":"NARROW","text":"Xanthoma of periocular region"}]} +{"alt_ids":[],"definition":"A polar cataract that affects the posterior pole of the lens.","id":"HP:0001115","name":"Posterior polar cataract","obsolete":false,"parents":["HP:0010696"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Polar cataract, posterior"}]} +{"alt_ids":[],"definition":"A so-called macular coloboma is characterized by a sharply defined, usually excavated, area without neuroretina and RPE tissues in the central area of the fundus. This lesion is not related to classical colobomas associated with optic fissure closure defects.","id":"HP:0001116","name":"Macular pseudocoloboma","obsolete":false,"parents":["HP:0001103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Coloboma of the macula"},{"scope":"EXACT","text":"Macular coloboma"}]} +{"alt_ids":[],"definition":"Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy.","id":"HP:0001117","name":"Sudden loss of visual acuity","obsolete":false,"parents":["HP:0007663"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Sudden central visual loss"},{"scope":"BROAD","text":"Sudden decrease in vision"}]} +{"alt_ids":[],"definition":"A type of cataract that is not apparent at birth but that arises in childhood or adolescence.","id":"HP:0001118","name":"Juvenile cataract","obsolete":false,"parents":["HP:0000518"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea.","id":"HP:0001119","name":"Keratoglobus","obsolete":false,"parents":["HP:0007700","HP:0100689","HP:0100692"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality of the size or morphology of the cornea.","id":"HP:0001120","name":"Abnormality of corneal size","obsolete":false,"parents":["HP:0000481"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001122","name":"obsolete Aplasia/Hypoplasia of the choroid","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001123","name":"Visual field defect","obsolete":false,"parents":["HP:0000505"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial loss of field of vision"},{"scope":"EXACT","text":"Visual field defects"}]} +{"alt_ids":["HP:0000583"],"definition":"Transient blurring of vision associated with the aura phase of migraine.","id":"HP:0001125","name":"Transient unilateral blurring of vision","obsolete":false,"parents":["HP:0000622"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Hemianopic blurring"},{"scope":"EXACT","text":"Hemianoptic blurring of vision"},{"scope":"EXACT","text":"Transient unilateral blurred vision"}]} +{"alt_ids":["HP:0008032"],"definition":"Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity.","id":"HP:0001126","name":"Cryptophthalmos","obsolete":false,"parents":["HP:0011226"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inversion and rubbing of the eyelashes against the globe of the eye.","id":"HP:0001128","name":"Trichiasis","obsolete":false,"parents":["HP:0000499"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ingrown eyelashes"},{"scope":"EXACT","text":"Introversion of eyelashes"},{"scope":"EXACT","text":"Trichiasis of eyelid eyelashes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001129","name":"Large central visual field defect","obsolete":false,"parents":["HP:0001123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Large central loss of field of vision"}]} +{"alt_ids":["HP:0007775","HP:0008005"],"definition":"The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.","id":"HP:0001131","name":"Corneal dystrophy","obsolete":false,"parents":["HP:0000481"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Partial dislocation of the lens of the eye.","id":"HP:0001132","name":"Lens subluxation","obsolete":false,"parents":["HP:0001083"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partially dislocated lens"}]} +{"alt_ids":["HP:0007887","HP:0007981"],"definition":"An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.","id":"HP:0001133","name":"Constriction of peripheral visual field","obsolete":false,"parents":["HP:0001123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Concentric narrowing of visual field"},{"scope":"EXACT","text":"Constricted visual field"},{"scope":"EXACT","text":"Constricted visual fields"},{"scope":"EXACT","text":"Limited peripheral vision"},{"scope":"EXACT","text":"Reduced peripheral vision"},{"scope":"EXACT","text":"Visual field constriction"}]} +{"alt_ids":[],"definition":"A polar cataract that affects the anterior pole of the lens.","id":"HP:0001134","name":"Anterior polar cataract","obsolete":false,"parents":["HP:0010696"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Polar cataract, anterior"}]} +{"alt_ids":["HP:0007712","HP:0007920"],"definition":null,"id":"HP:0001135","name":"Chorioretinal dystrophy","obsolete":false,"parents":["HP:0000532","HP:0000556"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of an increased number of twists and turns of the retinal arterioles.","id":"HP:0001136","name":"Retinal arteriolar tortuosity","obsolete":false,"parents":["HP:0000630","HP:0012841"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tortuous retinal arterioles"}]} +{"alt_ids":[],"definition":"Esotropia in which either eye may be used for fixation.","id":"HP:0001137","name":"Alternating esotropia","obsolete":false,"parents":["HP:0000565"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Alternating cross eyes"}]} +{"alt_ids":["HP:0007806"],"definition":null,"id":"HP:0001138","name":"Optic neuropathy","obsolete":false,"parents":["HP:0000587"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Damaged optic nerve"}]} +{"alt_ids":[],"definition":"Well-defined, pale patches in the fundus.","id":"HP:0001139","name":"Chorioretinal scalloped atrophy","obsolete":false,"parents":["HP:0000610"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Choroideremia"}]} +{"alt_ids":[],"definition":"A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).","id":"HP:0001140","name":"Limbal dermoid","obsolete":false,"parents":["HP:0000481","HP:0000502","HP:0000591"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Benign eye tumor"},{"scope":"BROAD","text":"Benign eye tumour"},{"scope":"EXACT","text":"Epibulbar dermoid"},{"scope":"EXACT","text":"Epibulbar dermoids"}]} +{"alt_ids":["HP:0007640","HP:0007842","HP:0007951","HP:0008023"],"definition":"Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05.","id":"HP:0001141","name":"Severely reduced visual acuity","obsolete":false,"parents":["HP:0007663"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Marked vision impairment"},{"scope":"EXACT","text":"Severe reduction in visual acuity"},{"scope":"EXACT","text":"Severe vision loss"},{"scope":"EXACT","text":"Severe visual impairment"},{"scope":"EXACT","text":"Severe visual loss"},{"scope":"EXACT","text":"Severely impaired vision"}]} +{"alt_ids":[],"definition":"A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly.","id":"HP:0001142","name":"Lenticonus","obsolete":false,"parents":["HP:0011526"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium).","id":"HP:0001144","name":"Orbital cyst","obsolete":false,"parents":["HP:0000315"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cyst of eye socket"},{"scope":"EXACT","text":"Orbital cysts"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001145","name":"obsolete Chorioretinopathy","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001146","name":"obsolete Pigmentary retinal degeneration","obsolete":true,"parents":[],"replaced_by":["HP:0000580"],"synonyms":[]} +{"alt_ids":[],"definition":"Yellow-white intraretinal deposits in the retina typically associated with damaged inner blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature.","id":"HP:0001147","name":"Retinal exudate","obsolete":false,"parents":["HP:0030506"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Retinal exudates"}]} +{"alt_ids":[],"definition":"The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea.","id":"HP:0001149","name":"Lattice corneal dystrophy","obsolete":false,"parents":["HP:0001131"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Biber haab dimmer dystrophy"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001150","name":"obsolete Choroidal sclerosis","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.","id":"HP:0001151","name":"Impaired horizontal smooth pursuit","obsolete":false,"parents":["HP:0007772"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal horizontal ocular pursuit"},{"scope":"EXACT","text":"Impaired horizontal visual pursuit"}]} +{"alt_ids":["HP:0000530"],"definition":"An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.","id":"HP:0001152","name":"Saccadic smooth pursuit interruptions","obsolete":false,"parents":["HP:0000617"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Saccadic pursuit movements"},{"scope":"EXACT","text":"Saccadic slow pursuit"},{"scope":"EXACT","text":"Saccadic smooth pursuit"}]} +{"alt_ids":[],"definition":"The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.","id":"HP:0001153","name":"Septate vagina","obsolete":false,"parents":["HP:0000142"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Double vagina"}]} +{"alt_ids":["HP:0005858"],"definition":"An abnormality affecting one or both hands.","id":"HP:0001155","name":"Abnormality of the hand","obsolete":false,"parents":["HP:0002817"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal hands"},{"scope":"EXACT","text":"Abnormality of the hand"},{"scope":"EXACT","text":"Hand anomalies"},{"scope":"EXACT","text":"Hand deformities"}]} +{"alt_ids":["HP:0001189","HP:0001201","HP:0005630","HP:0005657","HP:0005727","HP:0006017","HP:0006128","HP:0100667"],"definition":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","id":"HP:0001156","name":"Brachydactyly","obsolete":false,"parents":["HP:0011927"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brachydactyly syndrome"},{"scope":"EXACT","text":"Short fingers or toes"}]} +{"alt_ids":["HP:0001206","HP:0001236"],"definition":"Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as \"symphalangism\".","id":"HP:0001159","name":"Syndactyly","obsolete":false,"parents":["HP:0011297"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Webbed fingers or toes"}]} +{"alt_ids":[],"definition":"A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.","id":"HP:0001161","name":"Hand polydactyly","obsolete":false,"parents":["HP:0009997","HP:0010442"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extra finger"},{"scope":"EXACT","text":"Finger polydactyly"},{"scope":"EXACT","text":"Polydactyly of the hand"},{"scope":"EXACT","text":"Supernumerary finger"}]} +{"alt_ids":["HP:0004698","HP:0005763","HP:0009984"],"definition":"Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).","id":"HP:0001162","name":"Postaxial hand polydactyly","obsolete":false,"parents":["HP:0001161","HP:0004207","HP:0100259"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extra little finger"},{"scope":"EXACT","text":"Extra pinkie finger"},{"scope":"EXACT","text":"Extra pinky finger"},{"scope":"EXACT","text":"Polydactyly affecting the 5th finger"},{"scope":"EXACT","text":"Postaxial polydactyly of fingers"},{"scope":"EXACT","text":"Postaxial polydactyly of hand"},{"scope":"EXACT","text":"Postaxial polydactyly of hands"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001163","name":"obsolete Abnormality of the metacarpal bones","obsolete":true,"parents":[],"replaced_by":["HP:0005916"],"synonyms":[]} +{"alt_ids":["HP:0001505"],"definition":"Abnormally long and slender fingers (spider fingers).","id":"HP:0001166","name":"Arachnodactyly","obsolete":false,"parents":["HP:0001238","HP:0100807"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Long slender fingers"},{"scope":"EXACT","text":"Long, slender fingers"},{"scope":"EXACT","text":"Spider fingers"}]} +{"alt_ids":["HP:0003035"],"definition":"An anomaly of a finger.","id":"HP:0001167","name":"Abnormal finger morphology","obsolete":false,"parents":["HP:0001155","HP:0011297"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormalities of the fingers"},{"scope":"EXACT","text":"Abnormality of finger"}]} +{"alt_ids":["HP:0001174"],"definition":"For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.","id":"HP:0001169","name":"Broad palm","obsolete":false,"parents":["HP:0100871"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad hand"},{"scope":"EXACT","text":"Broad hands"},{"scope":"EXACT","text":"Broad palm"},{"scope":"EXACT","text":"Wide palm"}]} +{"alt_ids":["HP:0001247","HP:0003050"],"definition":"A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands.","id":"HP:0001171","name":"Split hand","obsolete":false,"parents":["HP:0005922","HP:0100257"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ectrodactyly of the hand"},{"scope":"EXACT","text":"Hand ectrodactyly"},{"scope":"EXACT","text":"Split hand"},{"scope":"EXACT","text":"Split-hand"}]} +{"alt_ids":[],"definition":"An abnormal structure of the first digit of the hand.","id":"HP:0001172","name":"Abnormal thumb morphology","obsolete":false,"parents":["HP:0001167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the thumb"},{"scope":"EXACT","text":"Abnormality of the thumbs"},{"scope":"EXACT","text":"Thumb deformity"}]} +{"alt_ids":["HP:0002820","HP:0006044","HP:0006219"],"definition":null,"id":"HP:0001176","name":"Large hands","obsolete":false,"parents":["HP:0005922"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disproportionately large hands"},{"scope":"EXACT","text":"Large hands"},{"scope":"EXACT","text":"large hand"}]} +{"alt_ids":["HP:0005629","HP:0005634","HP:0006182","HP:0009604"],"definition":"Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.","id":"HP:0001177","name":"Preaxial hand polydactyly","obsolete":false,"parents":["HP:0001161","HP:0001172","HP:0100258"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extra thumb"},{"scope":"EXACT","text":"Polydactyly affecting the thumb"},{"scope":"EXACT","text":"Preaxial polydactyly of hands"},{"scope":"EXACT","text":"Supernumerary thumb"},{"scope":"EXACT","text":"thumb polydactyly"}]} +{"alt_ids":[],"definition":"An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm.","id":"HP:0001178","name":"Ulnar claw","obsolete":false,"parents":["HP:0005922"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001180","name":"obsolete Hand oligodactyly","obsolete":true,"parents":[],"replaced_by":["HP:0009380"],"synonyms":[]} +{"alt_ids":["HP:0005646"],"definition":"In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.","id":"HP:0001181","name":"Adducted thumb","obsolete":false,"parents":["HP:0001172"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Adducted thumbs"},{"scope":"EXACT","text":"Inward turned thumb"},{"scope":"EXACT","text":"Thumb-in-palm deformity"},{"scope":"EXACT","text":"Thumb-in-palm pattern"}]} +{"alt_ids":["HP:0005795","HP:0005800","HP:0006032","HP:0006080","HP:0006098","HP:0006111","HP:0006125","HP:0006244","HP:0007532"],"definition":"The gradual reduction in girth of the finger from proximal to distal.","id":"HP:0001182","name":"Tapered finger","obsolete":false,"parents":["HP:0100807"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Distally tapering fingers"},{"scope":"EXACT","text":"Tapered finger"},{"scope":"RELATED","text":"Tapered fingers"},{"scope":"EXACT","text":"Tapered fingertips"},{"scope":"EXACT","text":"Tapering fingers"}]} +{"alt_ids":["HP:0006158"],"definition":"The ability of the finger joints to move beyond their normal range of motion.","id":"HP:0001187","name":"Hyperextensibility of the finger joints","obsolete":false,"parents":["HP:0006094"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Finger joint hyperextensibility"},{"scope":"EXACT","text":"Hyperextensible digits"},{"scope":"EXACT","text":"Hyperextensible finger"},{"scope":"RELATED","text":"Hyperextensible fingers"}]} +{"alt_ids":[],"definition":"An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted.","id":"HP:0001188","name":"Hand clenching","obsolete":false,"parents":["HP:0005922"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Clenched hand"},{"scope":"EXACT","text":"Clenched hands"},{"scope":"EXACT","text":"Fisted hand"},{"scope":"EXACT","text":"Fisting"},{"scope":"EXACT","text":"Hand clenching"},{"scope":"EXACT","text":"Hands fisted"},{"scope":"EXACT","text":"Hands tightly fisted"},{"scope":"EXACT","text":"Thumb clasp"}]} +{"alt_ids":[],"definition":"An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).","id":"HP:0001191","name":"Abnormal carpal morphology","obsolete":false,"parents":["HP:0005922","HP:0025798"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal carpal bones"},{"scope":"BROAD","text":"Abnormal wrist bones"},{"scope":"EXACT","text":"Abnormality of the carpal bones"},{"scope":"EXACT","text":"Anomalous carpal bones"},{"scope":"EXACT","text":"Carpal bone anomalies"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001193","name":"Ulnar deviation of the hand or of fingers of the hand","obsolete":false,"parents":["HP:0009484"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta).","id":"HP:0001194","name":"Abnormalities of placenta or umbilical cord","obsolete":false,"parents":["HP:0001197"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormalities of placenta or umbilical cord"}]} +{"alt_ids":[],"definition":"Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.","id":"HP:0001195","name":"Single umbilical artery","obsolete":false,"parents":["HP:0010948","HP:0011403","HP:0011425"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"2 vessel cord"},{"scope":"EXACT","text":"2 vessel umbilical cord"},{"scope":"EXACT","text":"Only one artery in umbilical cord instead of two"},{"scope":"EXACT","text":"SUA"},{"scope":"EXACT","text":"Two vessel cord"},{"scope":"EXACT","text":"Two vessel umbilical cord"},{"scope":"EXACT","text":"Two-vessel cord"}]} +{"alt_ids":[],"definition":"Decreased length of the umbilical cord.","id":"HP:0001196","name":"Short umbilical cord","obsolete":false,"parents":["HP:0010881"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short umbilical cord"}]} +{"alt_ids":[],"definition":"An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.","id":"HP:0001197","name":"Abnormality of prenatal development or birth","obsolete":false,"parents":["HP:0000118"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of prenatal development or birth"}]} +{"alt_ids":["HP:0005846","HP:0006194","HP:0009610","HP:0009619"],"definition":"A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.","id":"HP:0001199","name":"Triphalangeal thumb","obsolete":false,"parents":["HP:0009602"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Accessory phalanx of the thumb"},{"scope":"EXACT","text":"Digitalized thumb"},{"scope":"EXACT","text":"Finger-like thumb"},{"scope":"EXACT","text":"Triphalangeal thumbs"},{"scope":"EXACT","text":"Triphalangy of thumb"}]} +{"alt_ids":["HP:0006079","HP:0006116","HP:0009841","HP:0009871"],"definition":"The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases.","id":"HP:0001204","name":"Distal finger symphalangism","obsolete":false,"parents":["HP:0009700","HP:0009832","HP:0100263"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Distal symphalangism of hands"},{"scope":"EXACT","text":"Fused outermost bones of hand"},{"scope":"EXACT","text":"Symphalangism affecting the distal phalanges of the hand"},{"scope":"EXACT","text":"Synostosis of distal phalanges"},{"scope":"EXACT","text":"Terminal symphalangism"}]} +{"alt_ids":[],"definition":"An abnormal structure of the tip (end) of a finger.","id":"HP:0001211","name":"Abnormal fingertip morphology","obsolete":false,"parents":["HP:0001167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the fingertips"}]} +{"alt_ids":["HP:0001235"],"definition":"A soft tissue prominence of the ventral aspects of the fingertips. The term \"persistent fetal fingertip pads\" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.","id":"HP:0001212","name":"Prominent fingertip pads","obsolete":false,"parents":["HP:0001211","HP:0011298"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Persistence of fingerpads"},{"scope":"EXACT","text":"Persistent fetal fingertip pads"},{"scope":"EXACT","text":"Persistent foetal fingertip pads"},{"scope":"EXACT","text":"Prominent finger pads"},{"scope":"EXACT","text":"Prominent fingertip pads"}]} +{"alt_ids":[],"definition":"The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension.","id":"HP:0001215","name":"Camptodactyly of 2nd-5th fingers","obsolete":false,"parents":["HP:0100490"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006069"],"definition":"Ossification of carpal bones occurs later than age-adjusted norms.","id":"HP:0001216","name":"Delayed ossification of carpal bones","obsolete":false,"parents":["HP:0006257"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Carpal delayed ossification"},{"scope":"EXACT","text":"Delayed carpal bone age"},{"scope":"EXACT","text":"Delayed carpal ossification"},{"scope":"EXACT","text":"Delayed maturation of carpal bones"},{"scope":"RELATED","text":"Delayed maturation of wrist bone"}]} +{"alt_ids":["HP:0003036","HP:0005874"],"definition":"Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.","id":"HP:0001217","name":"Clubbing","obsolete":false,"parents":["HP:0011297"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Clubbing of fingers and toes"},{"scope":"EXACT","text":"Digital clubbing"}]} +{"alt_ids":[],"definition":"Auto-amputation is the spontaneous detachment of an appendage from the body due to long standing pathology.","id":"HP:0001218","name":"Autoamputation","obsolete":false,"parents":["HP:0040064"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.","id":"HP:0001220","name":"Interphalangeal joint contracture of finger","obsolete":false,"parents":["HP:0012785"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Interphalangeal joint flexion contractures"}]} +{"alt_ids":[],"definition":"Spoon-shaped, broad thumbs.","id":"HP:0001222","name":"Spatulate thumbs","obsolete":false,"parents":["HP:0011304"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spoon shaped thumbs"}]} +{"alt_ids":[],"definition":"All of the metacarpal bones of the hand have a pointed proximal appearance.","id":"HP:0001223","name":"Pointed proximal second through fifth metacarpals","obsolete":false,"parents":["HP:0006119"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001225","name":"Wrist swelling","obsolete":false,"parents":["HP:0025798"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wrist swelling"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001226","name":"obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits","obsolete":true,"parents":[],"replaced_by":["HP:0006121"],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb.","id":"HP:0001227","name":"Abnormality of the thenar eminence","obsolete":false,"parents":["HP:0001421"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thenar abnormality"}]} +{"alt_ids":["HP:0006024","HP:0006065"],"definition":"Abnormally broad metacarpal bones.","id":"HP:0001230","name":"Broad metacarpals","obsolete":false,"parents":["HP:0005916"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide long bones of hand"},{"scope":"EXACT","text":"Wide metacarpals"}]} +{"alt_ids":[],"definition":"An abnormality of the fingernails.","id":"HP:0001231","name":"Abnormal fingernail morphology","obsolete":false,"parents":["HP:0001597"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal fingernails"},{"scope":"EXACT","text":"Abnormality of the fingernails"}]} +{"alt_ids":[],"definition":"Telangiectases in the area of the nails.","id":"HP:0001232","name":"Nail bed telangiectasia","obsolete":false,"parents":["HP:0001009","HP:0001597"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nail bed telangiectases"}]} +{"alt_ids":["HP:0006039","HP:0006122"],"definition":"A soft tissue continuity in the anteroposterior axis between the second to the third fingers that extends distally to at least the level of the proximal interphalangeal joints.","id":"HP:0001233","name":"2-3 finger cutaneous syndactyly","obsolete":false,"parents":["HP:0010554"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Syndactyly 2nd-3rd fingers"},{"scope":"EXACT","text":"Syndactyly, 2-3 finger"},{"scope":"EXACT","text":"Webbed 2nd-3rd fingers"}]} +{"alt_ids":["HP:0009620","HP:0040021"],"definition":"With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand.","id":"HP:0001234","name":"Hitchhiker thumb","obsolete":false,"parents":["HP:0009466","HP:0009603","HP:0009617"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abducted thumb"},{"scope":"EXACT","text":"Hitchhiker thumb"}]} +{"alt_ids":[],"definition":"Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.","id":"HP:0001238","name":"Slender finger","obsolete":false,"parents":["HP:0001167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrow fingers"},{"scope":"EXACT","text":"Slender finger"},{"scope":"EXACT","text":"Slender fingers"},{"scope":"EXACT","text":"thin fingers"}]} +{"alt_ids":["HP:0006049","HP:0006137"],"definition":"A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.","id":"HP:0001239","name":"Wrist flexion contracture","obsolete":false,"parents":["HP:0025798","HP:0100360"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wrist contracture"},{"scope":"EXACT","text":"Wrist flexion deformity"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001241","name":"Capitate-hamate fusion","obsolete":false,"parents":["HP:0004259","HP:0004262","HP:0009702"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Capitate-hamate fusions"},{"scope":"EXACT","text":"Fused capitate and hamate"},{"scope":"EXACT","text":"Fusion of capitate and hamate"},{"scope":"EXACT","text":"Fusion of hamate and capitate"}]} +{"alt_ids":["HP:0006188"],"definition":"Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb.","id":"HP:0001245","name":"Small thenar eminence","obsolete":false,"parents":["HP:0001227"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased thenar eminence"},{"scope":"EXACT","text":"Hypoplastic thenar eminences"},{"scope":"EXACT","text":"Thenar hypoplasia"},{"scope":"EXACT","text":"Thenar muscle hypoplasia"}]} +{"alt_ids":[],"definition":"Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals.","id":"HP:0001248","name":"Short tubular bones of the hand","obsolete":false,"parents":["HP:0003026","HP:0005922"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Long bone shortening of the hand"},{"scope":"EXACT","text":"Short long bones of the hand"},{"scope":"EXACT","text":"Shortened long tubular bones of the hand"},{"scope":"EXACT","text":"Shortened tubular bones of the hand"}]} +{"alt_ids":["HP:0000730","HP:0001261","HP:0001267","HP:0001286","HP:0002122","HP:0002192","HP:0002316","HP:0002382","HP:0002386","HP:0002402","HP:0002458","HP:0002482","HP:0002499","HP:0002543","HP:0003767","HP:0006833","HP:0006877","HP:0006887","HP:0006924","HP:0007025","HP:0007044","HP:0007154","HP:0007176","HP:0007180","HP:0007243"],"definition":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","id":"HP:0001249","name":"Intellectual disability","obsolete":false,"parents":["HP:0011446","HP:0012759"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Dull intelligence"},{"scope":"EXACT","text":"Intellectual disability"},{"scope":"RELATED","text":"Low intelligence"},{"scope":"EXACT","text":"Mental deficiency"},{"scope":"EXACT","text":"Mental retardation"},{"scope":"EXACT","text":"Mental retardation, nonspecific"},{"scope":"EXACT","text":"Mental-retardation"},{"scope":"EXACT","text":"Nonprogressive intellectual disability"},{"scope":"EXACT","text":"Nonprogressive mental retardation"},{"scope":"RELATED","text":"Poor school performance"}]} +{"alt_ids":["HP:0001275","HP:0001303","HP:0002125","HP:0002182","HP:0002279","HP:0002306","HP:0002348","HP:0002391","HP:0002417","HP:0002430","HP:0002431","HP:0002432","HP:0002434","HP:0002437","HP:0002466","HP:0002479","HP:0002794","HP:0006997","HP:0010520"],"definition":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","id":"HP:0001250","name":"Seizure","obsolete":false,"parents":["HP:0012638"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Epilepsy"},{"scope":"EXACT","text":"Epileptic seizure"},{"scope":"EXACT","text":"Seizures"}]} +{"alt_ids":["HP:0001253","HP:0002513","HP:0007050","HP:0007157"],"definition":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","id":"HP:0001251","name":"Ataxia","obsolete":false,"parents":["HP:0011443"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cerebellar ataxia"}]} +{"alt_ids":["HP:0011398"],"definition":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","id":"HP:0001252","name":"Hypotonia","obsolete":false,"parents":["HP:0003808"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Central hypotonia"},{"scope":"EXACT","text":"Low muscle tone"},{"scope":"EXACT","text":"Low or weak muscle tone"},{"scope":"EXACT","text":"Muscle hypotonia"},{"scope":"EXACT","text":"Muscular hypotonia"},{"scope":"NARROW","text":"Peripheral hypotonia"}]} +{"alt_ids":[],"definition":"A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.","id":"HP:0001254","name":"Lethargy","obsolete":false,"parents":["HP:0000745"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dullness"},{"scope":"EXACT","text":"Inaction"},{"scope":"EXACT","text":"Inactivity"},{"scope":"EXACT","text":"Languor"},{"scope":"EXACT","text":"Lethargy"},{"scope":"EXACT","text":"Slowness"},{"scope":"EXACT","text":"Torpor"}]} +{"alt_ids":["HP:0006908","HP:0007119"],"definition":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","id":"HP:0001256","name":"Mild intellectual disability","obsolete":false,"parents":["HP:0001249"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intellectual disability, mild"},{"scope":"EXACT","text":"Mental retardation, borderline-mild"},{"scope":"RELATED","text":"Mental retardation, mild"},{"scope":"EXACT","text":"Mild and nonprogressive mental retardation"},{"scope":"EXACT","text":"Mild mental retardation"}]} +{"alt_ids":[],"definition":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","id":"HP:0001257","name":"Spasticity","obsolete":false,"parents":["HP:0001276","HP:0002493"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Involuntary muscle stiffness, contraction, or spasm"},{"scope":"EXACT","text":"Muscle spasticity"},{"scope":"EXACT","text":"Muscular spasticity"}]} +{"alt_ids":["HP:0007062","HP:0007124","HP:0007216"],"definition":"Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs.","id":"HP:0001258","name":"Spastic paraplegia","obsolete":false,"parents":["HP:0002061","HP:0010550"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spastic paraplegia, lower limb"}]} +{"alt_ids":[],"definition":"The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.","id":"HP:0001259","name":"Coma","obsolete":false,"parents":["HP:0004372"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Coma"},{"scope":"EXACT","text":"Persistent vegetative state"},{"scope":"EXACT","text":"Stupor"},{"scope":"RELATED","text":"Trance"},{"scope":"EXACT","text":"Unconsciousness"}]} +{"alt_ids":["HP:0002327"],"definition":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","id":"HP:0001260","name":"Dysarthria","obsolete":false,"parents":["HP:0002167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Difficulty articulating speech"},{"scope":"EXACT","text":"Dysarthric speech"}]} +{"alt_ids":["HP:0002189","HP:0100786"],"definition":"A state of abnormally strong desire for sleep during the daytime.","id":"HP:0001262","name":"Excessive daytime somnolence","obsolete":false,"parents":["HP:0002360","HP:0004372"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excessive daytime sleepiness"},{"scope":"EXACT","text":"More than typical sleepiness during day"}]} +{"alt_ids":["HP:0000754","HP:0001255","HP:0001277","HP:0001292","HP:0002433","HP:0002473","HP:0002532","HP:0006793","HP:0006867","HP:0006885","HP:0006935","HP:0007005","HP:0007094","HP:0007106","HP:0007174","HP:0007224","HP:0007228","HP:0007342","HP:0025356"],"definition":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","id":"HP:0001263","name":"Global developmental delay","obsolete":false,"parents":["HP:0012758"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Cognitive delay"},{"scope":"EXACT","text":"Delayed cognitive development"},{"scope":"EXACT","text":"Delayed development"},{"scope":"EXACT","text":"Delayed developmental milestones"},{"scope":"EXACT","text":"Delayed intellectual development"},{"scope":"EXACT","text":"Delayed milestones"},{"scope":"EXACT","text":"Delayed psychomotor development"},{"scope":"EXACT","text":"Developmental delay"},{"scope":"EXACT","text":"Developmental delay in early childhood"},{"scope":"EXACT","text":"Developmental delay, global"},{"scope":"EXACT","text":"Developmental retardation"},{"scope":"EXACT","text":"GDD"},{"scope":"EXACT","text":"Lack of psychomotor development"},{"scope":"RELATED","text":"Mental and motor retardation"},{"scope":"EXACT","text":"Motor and developmental delay"},{"scope":"EXACT","text":"Motormental retardation"},{"scope":"EXACT","text":"Psychomotor delay"},{"scope":"EXACT","text":"Psychomotor development deficiency"},{"scope":"EXACT","text":"Psychomotor development failure"},{"scope":"EXACT","text":"Psychomotor developmental delay"},{"scope":"EXACT","text":"Retarded development"},{"scope":"EXACT","text":"Retarded mental development"},{"scope":"EXACT","text":"Retarded psychomotor development"}]} +{"alt_ids":[],"definition":"Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.","id":"HP:0001264","name":"Spastic diplegia","obsolete":false,"parents":["HP:0034353"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spastic diparesis"},{"scope":"EXACT","text":"Spastic diplegic"}]} +{"alt_ids":["HP:0002467"],"definition":"Reduction of neurologic reflexes such as the knee-jerk reaction.","id":"HP:0001265","name":"Hyporeflexia","obsolete":false,"parents":["HP:0001315"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased reflex response"},{"scope":"EXACT","text":"Decreased reflexes"}]} +{"alt_ids":["HP:0002469","HP:0006811","HP:0007028","HP:0007337"],"definition":"Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).","id":"HP:0001266","name":"Choreoathetosis","obsolete":false,"parents":["HP:0002072","HP:0002305"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Choreoathetoid movements"}]} +{"alt_ids":["HP:0002303","HP:0006822","HP:0007155","HP:0007253","HP:0007264","HP:0007298"],"definition":"Loss of previously present mental abilities, generally in adults.","id":"HP:0001268","name":"Mental deterioration","obsolete":false,"parents":["HP:0100543"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cognitive decline"},{"scope":"EXACT","text":"Cognitive decline, progressive"},{"scope":"EXACT","text":"Intellectual deterioration"},{"scope":"EXACT","text":"Mental deterioration"},{"scope":"EXACT","text":"Progressive cognitive decline"}]} +{"alt_ids":[],"definition":"Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.","id":"HP:0001269","name":"Hemiparesis","obsolete":false,"parents":["HP:0004374"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Weakness of one side of body"}]} +{"alt_ids":["HP:0001307","HP:0002130","HP:0006788","HP:0006826","HP:0006909","HP:0006950","HP:0006968","HP:0007219","HP:0007251"],"definition":"A type of Developmental delay characterized by a delay in acquiring motor skills.","id":"HP:0001270","name":"Motor delay","obsolete":false,"parents":["HP:0012758"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delay in development of motor milestones"},{"scope":"EXACT","text":"Delay in motor development"},{"scope":"EXACT","text":"Delayed development of motor milestones"},{"scope":"EXACT","text":"Delayed early motor milestones"},{"scope":"EXACT","text":"Delayed motor development"},{"scope":"EXACT","text":"Delayed motor milestones"},{"scope":"EXACT","text":"Locomotor delay"},{"scope":"EXACT","text":"Motor developmental delay"},{"scope":"EXACT","text":"Motor developmental milestones not achieved"},{"scope":"EXACT","text":"Motor retardation"},{"scope":"RELATED","text":"No development of motor milestones"},{"scope":"EXACT","text":"Retarded motor development"},{"scope":"EXACT","text":"Slow development of motor milestones"}]} +{"alt_ids":["HP:0006941","HP:0007287"],"definition":"A generalized disorder of peripheral nerves.","id":"HP:0001271","name":"Polyneuropathy","obsolete":false,"parents":["HP:0009830"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Peripheral nerve disease"}]} +{"alt_ids":["HP:0002364","HP:0006839","HP:0007072","HP:0007203"],"definition":"Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.","id":"HP:0001272","name":"Cerebellar atrophy","obsolete":false,"parents":["HP:0001317"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atrophic cerebellum"},{"scope":"EXACT","text":"Degeneration of cerebellum"},{"scope":"RELATED","text":"Infratentorial atrophy"}]} +{"alt_ids":["HP:0007323"],"definition":"Abnormality of the corpus callosum.","id":"HP:0001273","name":"Abnormal corpus callosum morphology","obsolete":false,"parents":["HP:0002500"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal corpus callosum"},{"scope":"EXACT","text":"Abnormality of the corpus callosum"},{"scope":"EXACT","text":"Corpus callosum abnormality"}]} +{"alt_ids":["HP:0006800"],"definition":"Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.","id":"HP:0001274","name":"Agenesis of corpus callosum","obsolete":false,"parents":["HP:0007370"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of corpus callosum"},{"scope":"EXACT","text":"Absent corpus callosum"},{"scope":"EXACT","text":"Agenesis of the corpus callosum"},{"scope":"EXACT","text":"Callosal agenesis"},{"scope":"EXACT","text":"Corpus callosum agenesis"},{"scope":"EXACT","text":"Dysplastic or absent corpus callosum"}]} +{"alt_ids":["HP:0002388"],"definition":"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.","id":"HP:0001276","name":"Hypertonia","obsolete":false,"parents":["HP:0003808"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypertonicity"},{"scope":"EXACT","text":"Increased muscle tone"},{"scope":"RELATED","text":"Muscle hypertonia"},{"scope":"NARROW","text":"Spasticity and rigidity of muscles"}]} +{"alt_ids":["HP:0004932","HP:0006700"],"definition":"A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.","id":"HP:0001278","name":"Orthostatic hypotension","obsolete":false,"parents":["HP:0002615","HP:0012332"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decrease in blood pressure upon standing up"},{"scope":"EXACT","text":"Postural hypotension"}]} +{"alt_ids":[],"definition":"A transient loss of consciousness (i.e., characterized by a rapid onset, a short duration, and a spontaneous and complete recovery) due to cerebral hypoperfusion.","id":"HP:0001279","name":"Syncope","obsolete":false,"parents":["HP:0007185","HP:0011025"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fainting spell"}]} +{"alt_ids":[],"definition":"A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.","id":"HP:0001281","name":"Tetany","obsolete":false,"parents":["HP:0011804"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intermittent involuntary muscle spasm"}]} +{"alt_ids":["HP:0003441","HP:0003709"],"definition":"Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.","id":"HP:0001283","name":"Bulbar palsy","obsolete":false,"parents":["HP:0001324","HP:0012638"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bulbar muscle weakness"},{"scope":"EXACT","text":"Bulbar palsies"},{"scope":"EXACT","text":"Bulbar weakness"}]} +{"alt_ids":["HP:0001314"],"definition":"Absence of neurologic reflexes such as the knee-jerk reaction.","id":"HP:0001284","name":"Areflexia","obsolete":false,"parents":["HP:0001315"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent deep tendon reflexes"},{"scope":"BROAD","text":"Absent reflexes"},{"scope":"EXACT","text":"Absent tendon reflexes"},{"scope":"EXACT","text":"Deep tendon reflexes absent"},{"scope":"EXACT","text":"Loss of deep tendon reflexes"},{"scope":"EXACT","text":"Lost deep tendon reflexes"}]} +{"alt_ids":["HP:0002393"],"definition":"Spastic weakness affecting all four limbs.","id":"HP:0001285","name":"Spastic tetraparesis","obsolete":false,"parents":["HP:0002273","HP:0034353"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spastic quadriparesis"}]} +{"alt_ids":[],"definition":"Inflammation of the meninges.","id":"HP:0001287","name":"Meningitis","obsolete":false,"parents":["HP:0011450"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual infectious meningitis"},{"scope":"EXACT","text":"Unusual meningitis"}]} +{"alt_ids":["HP:0002355","HP:0006953","HP:0007101","HP:0009030"],"definition":"The term gait disturbance can refer to any disruption of the ability to walk.","id":"HP:0001288","name":"Gait disturbance","obsolete":false,"parents":["HP:0100022"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal gait"},{"scope":"EXACT","text":"Abnormal walk"},{"scope":"EXACT","text":"Difficulty in walking"},{"scope":"EXACT","text":"Gait abnormalities"},{"scope":"EXACT","text":"Gait difficulties"},{"scope":"EXACT","text":"Gait disturbances"},{"scope":"EXACT","text":"Impaired gait"},{"scope":"EXACT","text":"Walking disability"}]} +{"alt_ids":["HP:0000731"],"definition":"Lack of clarity and coherence of thought, perception, understanding, or action.","id":"HP:0001289","name":"Confusion","obsolete":false,"parents":["HP:0100543"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Confusion"},{"scope":"EXACT","text":"Disorientation"},{"scope":"EXACT","text":"Easily confused"},{"scope":"EXACT","text":"Mental disorientation"}]} +{"alt_ids":[],"definition":"Generalized muscular hypotonia (abnormally low muscle tone).","id":"HP:0001290","name":"Generalized hypotonia","obsolete":false,"parents":["HP:0001252"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised decreased muscle tone"},{"scope":"EXACT","text":"Generalised hypotonia"},{"scope":"EXACT","text":"Generalised muscular hypotonia"},{"scope":"EXACT","text":"Generalized decreased muscle tone"},{"scope":"EXACT","text":"Generalized muscular hypotonia"},{"scope":"EXACT","text":"Hypotonia, generalised"},{"scope":"EXACT","text":"Hypotonia, generalized"}]} +{"alt_ids":["HP:0003480"],"definition":"Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.","id":"HP:0001291","name":"Abnormal cranial nerve morphology","obsolete":false,"parents":["HP:0000759"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of cranial nerve"},{"scope":"EXACT","text":"Abnormality of the cranial nerves"},{"scope":"RELATED","text":"Cranial nerve abnormality"},{"scope":"EXACT","text":"Cranial nerve disease"},{"scope":"EXACT","text":"Cranial nerve involvement"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001293","name":"Cranial nerve compression","obsolete":false,"parents":["HP:0001291"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002452"],"definition":"Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.","id":"HP:0001297","name":"Stroke","obsolete":false,"parents":["HP:0100659"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cerebral vascular events"},{"scope":"EXACT","text":"Cerebrovascular accident"},{"scope":"RELATED","text":"Cerebrovascular accidents"},{"scope":"EXACT","text":"Stroke"}]} +{"alt_ids":[],"definition":"Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.","id":"HP:0001298","name":"Encephalopathy","obsolete":false,"parents":["HP:0012638"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.","id":"HP:0001300","name":"Parkinsonism","obsolete":false,"parents":["HP:0002071"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Parkinsonian disease"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001301","name":"Chronic sensorineural polyneuropathy","obsolete":false,"parents":["HP:0009830"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007227"],"definition":"Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.","id":"HP:0001302","name":"Pachygyria","obsolete":false,"parents":["HP:0001339"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cerebral pachygyria"},{"scope":"EXACT","text":"Fewer and broader ridges in brain"},{"scope":"EXACT","text":"Macrogyria"}]} +{"alt_ids":[],"definition":"Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.","id":"HP:0001304","name":"Torsion dystonia","obsolete":false,"parents":["HP:0001332"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dystonia musculorum deformans"}]} +{"alt_ids":["HP:0001313","HP:0006809"],"definition":"A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.","id":"HP:0001305","name":"Dandy-Walker malformation","obsolete":false,"parents":["HP:0001320","HP:0002198","HP:0002350","HP:0005445"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dandy-Walker cyst"},{"scope":"EXACT","text":"Dandy-walker anomaly"}]} +{"alt_ids":["HP:0003727"],"definition":"Fasciculations or fibrillation affecting the tongue muscle.","id":"HP:0001308","name":"Tongue fasciculations","obsolete":false,"parents":["HP:0002380","HP:0010546","HP:0030810"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lingual fasciculations"},{"scope":"EXACT","text":"Lingual fibrillations"},{"scope":"EXACT","text":"Lingual twitching"},{"scope":"EXACT","text":"Tongue fasciculation"},{"scope":"EXACT","text":"Tongue fasciculations/fibrillations"},{"scope":"EXACT","text":"Tongue twitching"},{"scope":"EXACT","text":"Twitching of the tongue"}]} +{"alt_ids":[],"definition":"A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.","id":"HP:0001310","name":"Dysmetria","obsolete":false,"parents":["HP:0001251"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormal finger chase test"},{"scope":"RELATED","text":"Abnormal finger-nose-finger test"},{"scope":"EXACT","text":"Lack of coordination of movement"}]} +{"alt_ids":["HP:0002531","HP:0003129"],"definition":"An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations.","id":"HP:0001311","name":"Abnormal nervous system electrophysiology","obsolete":false,"parents":["HP:0012638"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neurophysiologic abnormalities"},{"scope":"EXACT","text":"Neurophysiologic abnormality"}]} +{"alt_ids":[],"definition":"An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials.","id":"HP:0001312","name":"Giant somatosensory evoked potentials","obsolete":false,"parents":["HP:0007377"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Giant SEPS"}]} +{"alt_ids":["HP:0001316"],"definition":"A reduction (hyporeflexia) or complete absence (areflexia) of the involuntary muscle contraction normally elicited by a reflex stimulus, such as tapping a deep tendon.","id":"HP:0001315","name":"Diminished deep tendon reflex","obsolete":false,"parents":["HP:0031826"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent or decreased deep tendon reflexes"},{"scope":"EXACT","text":"Decreased deep tendon reflexes"},{"scope":"EXACT","text":"Decreased tendon reflexes"},{"scope":"EXACT","text":"Decreased to absent deep tendon reflexes"},{"scope":"EXACT","text":"Decreased/absent deep tendon reflexes"},{"scope":"EXACT","text":"Depressed tendon reflexes"},{"scope":"EXACT","text":"Diminished deep tendon reflexes"},{"scope":"EXACT","text":"Diminished or absent deep tendon reflexes"},{"scope":"EXACT","text":"Diminished or absent tendon reflexes"},{"scope":"EXACT","text":"Hypoactive to absent deep tendon reflexes"},{"scope":"EXACT","text":"Impaired tendon reflexes"},{"scope":"EXACT","text":"Reduced tendon reflexes"},{"scope":"EXACT","text":"Reduced/absent deep tendon reflexes"},{"scope":"EXACT","text":"Weak or absent deep tendon reflexes"}]} +{"alt_ids":["HP:0002438"],"definition":"Any structural abnormality of the cerebellum.","id":"HP:0001317","name":"Abnormal cerebellum morphology","obsolete":false,"parents":["HP:0011283"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the cerebellum"},{"scope":"EXACT","text":"Cerebellar abnormalities"},{"scope":"EXACT","text":"Cerebellar abnormality"},{"scope":"EXACT","text":"Cerebellar anomaly"},{"scope":"EXACT","text":"Cerebellar signs"}]} +{"alt_ids":["HP:0006830","HP:0008976"],"definition":"Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.","id":"HP:0001319","name":"Neonatal hypotonia","obsolete":false,"parents":["HP:0001252"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Congenital hypotonia"},{"scope":"EXACT","text":"Hypotonia, in neonatal onset"},{"scope":"EXACT","text":"Hypotonia, neonatal"},{"scope":"EXACT","text":"Low muscle tone, in neonatal onset"}]} +{"alt_ids":[],"definition":"Underdevelopment of the vermis of cerebellum.","id":"HP:0001320","name":"Cerebellar vermis hypoplasia","obsolete":false,"parents":["HP:0001321","HP:0006817"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cerebellar vermal hypoplasia"},{"scope":"EXACT","text":"Hypoplasia of the cerebellar vermis"},{"scope":"EXACT","text":"Hypoplastic cerebellar vermis"}]} +{"alt_ids":["HP:0006806","HP:0006910","HP:0007038","HP:0007053"],"definition":"Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.","id":"HP:0001321","name":"Cerebellar hypoplasia","obsolete":false,"parents":["HP:0007360"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital cerebellar hypoplasia"},{"scope":"EXACT","text":"Hypoplasia of cerebellum"},{"scope":"EXACT","text":"Hypoplastic cerebellum"},{"scope":"EXACT","text":"Small cerebellum"},{"scope":"EXACT","text":"Underdeveloped cerebellum"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001322","name":"obsolete Brain very small","obsolete":true,"parents":[],"replaced_by":["HP:0006872"],"synonyms":[]} +{"alt_ids":["HP:0002309","HP:0008979","HP:0009012","HP:0009061"],"definition":"Reduced strength of muscles.","id":"HP:0001324","name":"Muscle weakness","obsolete":false,"parents":["HP:0011804"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle weakness"},{"scope":"EXACT","text":"Muscular weakness"}]} +{"alt_ids":[],"definition":"Coma induced by low blood sugar.","id":"HP:0001325","name":"Hypoglycemic coma","obsolete":false,"parents":["HP:0001259"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Coma caused by low blood sugar"},{"scope":"EXACT","text":"Coma, hypoglycemic"},{"scope":"EXACT","text":"Hypoglycaemic coma"},{"scope":"EXACT","text":"Loss of consciousness due to hypoglycemia"}]} +{"alt_ids":[],"definition":"EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency.","id":"HP:0001326","name":"EEG with irregular generalized spike and wave complexes","obsolete":false,"parents":["HP:0010850"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EEG with irregular generalised spike and wave complexes"}]} +{"alt_ids":[],"definition":"Generalised myoclonic seizure provoked by flashing or flickering light.","id":"HP:0001327","name":"Photosensitive myoclonic seizure","obsolete":false,"parents":["HP:0002123","HP:0020216"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Photically induced myoclonic seizure"},{"scope":"EXACT","text":"Photomyoclonic seizure"},{"scope":"EXACT","text":"Photomyoclonic seizures"}]} +{"alt_ids":["HP:0007234"],"definition":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.","id":"HP:0001328","name":"Specific learning disability","obsolete":false,"parents":["HP:0012759"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006969"],"definition":"Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm.","id":"HP:0001331","name":"Absent septum pellucidum","obsolete":false,"parents":["HP:0007375"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of septum pellucidum"},{"scope":"EXACT","text":"Absence of the septum pellucidum"},{"scope":"EXACT","text":"Agenesis of the septum pellucidum"},{"scope":"EXACT","text":"Missing septum pellucidum"}]} +{"alt_ids":["HP:0002328"],"definition":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","id":"HP:0001332","name":"Dystonia","obsolete":false,"parents":["HP:0100022"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Dystonic disease"},{"scope":"EXACT","text":"Dystonic movements"}]} +{"alt_ids":[],"definition":"A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space.","id":"HP:0001334","name":"Communicating hydrocephalus","obsolete":false,"parents":["HP:0000238"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand.","id":"HP:0001335","name":"Bimanual synkinesia","obsolete":false,"parents":["HP:0034980"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hand mirror movements"},{"scope":"EXACT","text":"Mirror hand movements"},{"scope":"EXACT","text":"Mirror movements"}]} +{"alt_ids":["HP:0002535","HP:0007087"],"definition":"Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.","id":"HP:0001336","name":"Myoclonus","obsolete":false,"parents":["HP:0004305"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Involuntary jerking movements"},{"scope":"BROAD","text":"Jerking"},{"scope":"EXACT","text":"Myoclonic jerks"}]} +{"alt_ids":["HP:0001295","HP:0001309"],"definition":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","id":"HP:0001337","name":"Tremor","obsolete":false,"parents":["HP:0004305"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tremor"},{"scope":"EXACT","text":"Tremors"}]} +{"alt_ids":["HP:0006982","HP:0007090","HP:0007128"],"definition":"A partial failure of the development of the corpus callosum.","id":"HP:0001338","name":"Partial agenesis of the corpus callosum","obsolete":false,"parents":["HP:0001274"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Corpus callosum agenesis, partial"},{"scope":"EXACT","text":"Partial agenesis of corpus callosum"},{"scope":"EXACT","text":"Partial corpus callosum agenesis"},{"scope":"EXACT","text":"Partial or complete agenesis of corpus callosum"},{"scope":"RELATED","text":"Partial or complete agenesis of the corpus callosum"},{"scope":"EXACT","text":"Partial to complete agenesis of corpus callosum"},{"scope":"EXACT","text":"Partial-total agenesis of corpus callosum"}]} +{"alt_ids":["HP:0002537"],"definition":"A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.","id":"HP:0001339","name":"Lissencephaly","obsolete":false,"parents":["HP:0002536"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fewer or absent grooves in brain"}]} +{"alt_ids":[],"definition":"Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response.","id":"HP:0001340","name":"Enhancement of the C-reflex","obsolete":false,"parents":["HP:0007377"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001341","name":"Olfactory lobe agenesis","obsolete":false,"parents":["HP:0025057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Olfactory lobe absence"}]} +{"alt_ids":["HP:0002137"],"definition":"Hemorrhage into the parenchyma of the brain.","id":"HP:0001342","name":"Cerebral hemorrhage","obsolete":false,"parents":["HP:0002170"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bleeding in brain"},{"scope":"EXACT","text":"Cerebral haemorrhage"},{"scope":"RELATED","text":"Hemorrhagic stroke"},{"scope":"EXACT","text":"Intracerebral haemorrhage"},{"scope":"EXACT","text":"Intracerebral hemorrhage"}]} +{"alt_ids":[],"definition":"Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction.","id":"HP:0001343","name":"Kernicterus","obsolete":false,"parents":["HP:0012443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001617","HP:0006798"],"definition":"Complete lack of development of speech and language abilities.","id":"HP:0001344","name":"Absent speech","obsolete":false,"parents":["HP:0000750"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent speech development"},{"scope":"EXACT","text":"Lack of language development"},{"scope":"EXACT","text":"Lack of speech"},{"scope":"EXACT","text":"No speech development"},{"scope":"EXACT","text":"No speech or language development"},{"scope":"EXACT","text":"Nonverbal"}]} +{"alt_ids":[],"definition":"A pattern of thinking and perceiving characterized by a loss of contact with reality, leading to significant changes in thoughts, perceptions, and behaviors.","id":"HP:0001345","name":"Psychotic mentation","obsolete":false,"parents":["HP:5200430"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001282","HP:0006820","HP:0007184","HP:0007318"],"definition":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","id":"HP:0001347","name":"Hyperreflexia","obsolete":false,"parents":["HP:0031826"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased deep tendon reflexes"},{"scope":"EXACT","text":"Increased reflexes"}]} +{"alt_ids":[],"definition":"Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.","id":"HP:0001348","name":"Brisk reflexes","obsolete":false,"parents":["HP:0001347"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brisk deep tendon reflexes"}]} +{"alt_ids":["HP:0005334","HP:0007085"],"definition":"Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).","id":"HP:0001349","name":"Facial diplegia","obsolete":false,"parents":["HP:0010628"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bilateral facial weakness"},{"scope":"EXACT","text":"Facial paresis, bilateral"}]} +{"alt_ids":[],"definition":"Abnormal coordination of muscles involved in speech.","id":"HP:0001350","name":"Slurred speech","obsolete":false,"parents":["HP:0011443"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Slurred speech"}]} +{"alt_ids":[],"definition":"Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG.","id":"HP:0001351","name":"Jerk-locked premyoclonus spikes","obsolete":false,"parents":["HP:0030178"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).","id":"HP:0001355","name":"Megalencephaly","obsolete":false,"parents":["HP:0002060"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Enlarged brain"},{"scope":"EXACT","text":"Macrencephaly"}]} +{"alt_ids":["HP:0001121"],"definition":"Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.","id":"HP:0001357","name":"Plagiocephaly","obsolete":false,"parents":["HP:0002683"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Asymmetry of the posterior cranium"},{"scope":"BROAD","text":"Asymmetry of the posterior head"},{"scope":"BROAD","text":"Asymmetry of the posterior skull"},{"scope":"NARROW","text":"Deformational plagiocephaly"},{"scope":"BROAD","text":"Flat head"},{"scope":"EXACT","text":"Flat head syndrome"},{"scope":"EXACT","text":"Flattening of cranial vault"},{"scope":"EXACT","text":"Flattening of cranium"},{"scope":"NARROW","text":"Flattening of head"},{"scope":"EXACT","text":"Flattening of skull"},{"scope":"NARROW","text":"Positional plagiocephaly"},{"scope":"EXACT","text":"Rhomboid shaped cranium"},{"scope":"BROAD","text":"Rhomboid shaped head"},{"scope":"EXACT","text":"Rhomboid shaped skull"}]} +{"alt_ids":["HP:0009807"],"definition":"Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles.","id":"HP:0001360","name":"Holoprosencephaly","obsolete":false,"parents":["HP:0012443"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Single brain ventricle"}]} +{"alt_ids":[],"definition":"Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision.","id":"HP:0001361","name":"Nystagmus-induced head nodding","obsolete":false,"parents":["HP:0000639"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.","id":"HP:0001362","name":"Calvarial skull defect","obsolete":false,"parents":["HP:0002683"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Calvarial defect"},{"scope":"EXACT","text":"Cranial defect"},{"scope":"EXACT","text":"Skull defect"}]} +{"alt_ids":["HP:0001365","HP:0004494","HP:0005448","HP:0005457","HP:0005467","HP:0008492"],"definition":"Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.","id":"HP:0001363","name":"Craniosynostosis","obsolete":false,"parents":["HP:0002683","HP:0011329"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cranial suture synostosis"},{"scope":"RELATED","text":"Craniostenosis"},{"scope":"EXACT","text":"Craniosyostosis"},{"scope":"BROAD","text":"Deformity of the skull"},{"scope":"EXACT","text":"Early fusion of cranial sutures"},{"scope":"EXACT","text":"Premature closure of cranial sutures"},{"scope":"EXACT","text":"Premature suture closure"}]} +{"alt_ids":[],"definition":"An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.","id":"HP:0001367","name":"Abnormal joint morphology","obsolete":false,"parents":["HP:0011842"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of joints"},{"scope":"EXACT","text":"Abnormality of the joints"},{"scope":"EXACT","text":"Anomaly of the joints"},{"scope":"RELATED","text":"Joint disease"}]} +{"alt_ids":[],"definition":"Inflammation of a joint.","id":"HP:0001369","name":"Arthritis","obsolete":false,"parents":["HP:0001367"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Arthritis"},{"scope":"EXACT","text":"Joint inflammation"}]} +{"alt_ids":[],"definition":"Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures.","id":"HP:0001370","name":"Rheumatoid arthritis","obsolete":false,"parents":["HP:0001369"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"RA"},{"scope":"EXACT","text":"Rheumatoid arthritis"}]} +{"alt_ids":["HP:0001372","HP:0001381","HP:0005053","HP:0005189","HP:0005660"],"definition":"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.","id":"HP:0001371","name":"Flexion contracture","obsolete":false,"parents":["HP:0034392"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flexed joint that cannot be straightened"},{"scope":"EXACT","text":"Flexion contractures"},{"scope":"EXACT","text":"Flexion contractures of joints"}]} +{"alt_ids":["HP:0002772","HP:0005837"],"definition":"Displacement or malalignment of joints.","id":"HP:0001373","name":"Joint dislocation","obsolete":false,"parents":["HP:0001367"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Joint dislocation"},{"scope":"EXACT","text":"Joint dislocations"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001374","name":"Congenital hip dislocation","obsolete":false,"parents":["HP:0001385","HP:0002827"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital dislocation of the hip"},{"scope":"EXACT","text":"Congenital dislocation of the hips"},{"scope":"EXACT","text":"Congenital hip anomaly"},{"scope":"EXACT","text":"Congenital hip dislocations"},{"scope":"EXACT","text":"Dislocated hip since birth"}]} +{"alt_ids":["HP:0003101"],"definition":"A reduction in the freedom of movement of one or more joints.","id":"HP:0001376","name":"Limitation of joint mobility","obsolete":false,"parents":["HP:0011729"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased joint mobility"},{"scope":"EXACT","text":"Decreased mobility of joints"},{"scope":"EXACT","text":"Limitation of joint mobility"},{"scope":"EXACT","text":"Limited joint mobility"},{"scope":"EXACT","text":"Limited joint motion"}]} +{"alt_ids":["HP:0005073"],"definition":"Limited ability to straighten the arm at the elbow joint.","id":"HP:0001377","name":"Limited elbow extension","obsolete":false,"parents":["HP:0002996"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased elbow extension"},{"scope":"EXACT","text":"Elbow limited extension"},{"scope":"EXACT","text":"Limitation of elbow extension"},{"scope":"EXACT","text":"Limited elbow extension"},{"scope":"EXACT","text":"Limited extension at elbows"},{"scope":"EXACT","text":"Limited forearm extension"},{"scope":"EXACT","text":"Reduced elbow extension"},{"scope":"EXACT","text":"Restricted elbow extension"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001379","name":"obsolete Degenerative joint disease","obsolete":true,"parents":[],"replaced_by":["HP:0002758"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001380","name":"obsolete Ligamentous laxity","obsolete":true,"parents":[],"replaced_by":["HP:0001382"],"synonyms":[]} +{"alt_ids":["HP:0001378","HP:0001380","HP:0001383","HP:0001388","HP:0002771","HP:0005034","HP:0005692"],"definition":"The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.","id":"HP:0001382","name":"Joint hypermobility","obsolete":false,"parents":["HP:0011729"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Double-Jointed"},{"scope":"EXACT","text":"Extensible joints"},{"scope":"EXACT","text":"Flexible joints"},{"scope":"EXACT","text":"Hyperextensible joints"},{"scope":"EXACT","text":"Increased joint mobility"},{"scope":"EXACT","text":"Increased mobility of joints"},{"scope":"EXACT","text":"Joint hyperextensibility"},{"scope":"EXACT","text":"Joint hyperflexibility"},{"scope":"EXACT","text":"Joint hyperlaxity"},{"scope":"RELATED","text":"Joint instability"},{"scope":"EXACT","text":"Joint laxity"},{"scope":"RELATED","text":"Joint ligamentous laxity"},{"scope":"EXACT","text":"Joints move beyond expected range of motion"},{"scope":"EXACT","text":"Lax joints"},{"scope":"RELATED","text":"Ligamentous laxity"},{"scope":"EXACT","text":"Loose-jointedness"}]} +{"alt_ids":[],"definition":"An abnormality of the hip joint.","id":"HP:0001384","name":"Abnormal hip joint morphology","obsolete":false,"parents":["HP:0003272","HP:0100491"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the hip joint"},{"scope":"RELATED","text":"Abnormality of the hip joints"}]} +{"alt_ids":["HP:0008787"],"definition":"The presence of developmental dysplasia of the hip.","id":"HP:0001385","name":"Hip dysplasia","obsolete":false,"parents":["HP:0003272"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Abnormal formation of the hip"},{"scope":"EXACT","text":"Congenital hip dysplasia"},{"scope":"EXACT","text":"DDH"},{"scope":"EXACT","text":"Developmental dysplasia of the hip"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001386","name":"Joint swelling","obsolete":false,"parents":["HP:0000969","HP:0001367"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Joint swelling"}]} +{"alt_ids":["HP:0002775","HP:0003033"],"definition":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","id":"HP:0001387","name":"Joint stiffness","obsolete":false,"parents":["HP:0001376"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Joint stiffness"},{"scope":"EXACT","text":"Stiff joint"},{"scope":"EXACT","text":"Stiff joints"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001388","name":"obsolete Joint laxity","obsolete":true,"parents":[],"replaced_by":["HP:0001382"],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the liver.","id":"HP:0001392","name":"Abnormality of the liver","obsolete":false,"parents":["HP:0002012"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal liver"},{"scope":"EXACT","text":"Abnormality of the liver"},{"scope":"EXACT","text":"Liver abnormality"},{"scope":"RELATED","text":"Liver disease"}]} +{"alt_ids":[],"definition":"A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.","id":"HP:0001394","name":"Cirrhosis","obsolete":false,"parents":["HP:0410042"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hepatic cirrhosis"},{"scope":"RELATED","text":"Liver cirrhosis"},{"scope":"EXACT","text":"Scar tissue replaces healthy tissue in the liver"}]} +{"alt_ids":[],"definition":"The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.","id":"HP:0001395","name":"Hepatic fibrosis","obsolete":false,"parents":["HP:0410042"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Liver fibrosis"}]} +{"alt_ids":[],"definition":"Impairment of bile flow due to obstruction in bile ducts.","id":"HP:0001396","name":"Cholestasis","obsolete":false,"parents":["HP:0004297"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Slowed or blocked flow of bile from liver"}]} +{"alt_ids":["HP:0002252","HP:0200121"],"definition":"Steatosis is a term used to denote lipid accumulation within hepatocytes.","id":"HP:0001397","name":"Hepatic steatosis","obsolete":false,"parents":["HP:0006561"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fatty infiltration of liver"},{"scope":"EXACT","text":"Fatty liver"},{"scope":"EXACT","text":"Liver steatosis"},{"scope":"EXACT","text":"Steatosis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001399","name":"Hepatic failure","obsolete":false,"parents":["HP:0001410"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hepatic insufficiency"},{"scope":"EXACT","text":"Liver failure"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001400","name":"obsolete Hepatic abscesses due to immunodeficiency","obsolete":true,"parents":[],"replaced_by":["HP:0100523"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001401","name":"Intrahepatic biliary dysgenesis","obsolete":false,"parents":["HP:0011040"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002899","HP:0003007","HP:0006750"],"definition":"A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.","id":"HP:0001402","name":"Hepatocellular carcinoma","obsolete":false,"parents":["HP:0002896"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Increased hepatocellular carcinoma risk"},{"scope":"RELATED","text":"Increased incidence of hepatocellular carcinoma"}]} +{"alt_ids":[],"definition":"A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes.","id":"HP:0001403","name":"Macrovesicular hepatic steatosis","obsolete":false,"parents":["HP:0001397"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Macrovesicular steatosis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001404","name":"Hepatocellular necrosis","obsolete":false,"parents":["HP:0002605"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Death of liver cells"},{"scope":"EXACT","text":"Hepatocellular loss"}]} +{"alt_ids":[],"definition":"The presence of fibrosis affecting the interlobular stroma of liver.","id":"HP:0001405","name":"Periportal fibrosis","obsolete":false,"parents":["HP:0001395"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Impairment of bile flow due to obstruction in the small bile ducts within the liver.","id":"HP:0001406","name":"Intrahepatic cholestasis","obsolete":false,"parents":["HP:0001396","HP:0031865"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Impaired release of bile from liver"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001407","name":"Hepatic cysts","obsolete":false,"parents":["HP:0006706"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Liver cysts"}]} +{"alt_ids":[],"definition":"Proliferative changes of the bile ducts.","id":"HP:0001408","name":"Bile duct proliferation","obsolete":false,"parents":["HP:0012440"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Proliferation of bile canaliculi"}]} +{"alt_ids":[],"definition":"Increased pressure in the portal vein.","id":"HP:0001409","name":"Portal hypertension","obsolete":false,"parents":["HP:0006707","HP:0032263"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004393","HP:0005228","HP:0006570"],"definition":"Reduced ability of the liver to perform its functions.","id":"HP:0001410","name":"Decreased liver function","obsolete":false,"parents":["HP:0025155"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased liver function"},{"scope":"RELATED","text":"Hepatopathy"},{"scope":"EXACT","text":"Liver dysfunction"},{"scope":"RELATED","text":"Liver dysfunction, mild"}]} +{"alt_ids":[],"definition":"Inflammation of the liver due to infection with enterovirus.","id":"HP:0001412","name":"Enteroviral hepatitis","obsolete":false,"parents":["HP:0006562"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of cirrhosis characterized by the presence of small regenerative nodules.","id":"HP:0001413","name":"Micronodular cirrhosis","obsolete":false,"parents":["HP:0001394"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes.","id":"HP:0001414","name":"Microvesicular hepatic steatosis","obsolete":false,"parents":["HP:0001397"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Microvesicular steatosis"}]} +{"alt_ids":["HP:0001418"],"definition":"A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.","id":"HP:0001417","name":"X-linked inheritance","obsolete":false,"parents":["HP:0034345"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"X-linked"},{"scope":"RELATED","text":"X-linked form"},{"scope":"EXACT","text":"monoallelic_X"}]} +{"alt_ids":[],"definition":"A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.","id":"HP:0001419","name":"X-linked recessive inheritance","obsolete":false,"parents":["HP:0001417"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"X-linked recessive"},{"scope":"EXACT","text":"monoallelic_X_hemizygous"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001421","name":"Abnormality of the musculature of the hand","obsolete":false,"parents":["HP:0001155","HP:0001446"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal hand muscles"}]} +{"alt_ids":[],"definition":"A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.","id":"HP:0001423","name":"X-linked dominant inheritance","obsolete":false,"parents":["HP:0001417"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"X-linked dominant"},{"scope":"EXACT","text":"monoallelic_X_heterozygous"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001425","name":"obsolete Heterogeneous","obsolete":true,"parents":[],"replaced_by":["HP:0000005"],"synonyms":[{"scope":"EXACT","text":"Genetic heterogeneity"}]} +{"alt_ids":["HP:0001429","HP:0001472"],"definition":"A mode of inheritance that depends on genetic determinants in more than one gene.","id":"HP:0001426","name":"Non-Mendelian inheritance","obsolete":false,"parents":["HP:0000005"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Familial predisposition"}]} +{"alt_ids":["HP:0001431","HP:0001458","HP:0001506"],"definition":"A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).","id":"HP:0001427","name":"Mitochondrial inheritance","obsolete":false,"parents":["HP:0034345"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mitochondrial"},{"scope":"EXACT","text":"mitochondrial"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001428","name":"obsolete Somatic mutation","obsolete":true,"parents":[],"replaced_by":["HP:0001442"],"synonyms":[]} +{"alt_ids":["HP:0004300"],"definition":null,"id":"HP:0001430","name":"Abnormal calf musculature morphology","obsolete":false,"parents":["HP:0001437"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal calf muscles"},{"scope":"EXACT","text":"Abnormality of calf musculature"}]} +{"alt_ids":[],"definition":"Simultaneous enlargement of the liver and spleen.","id":"HP:0001433","name":"Hepatosplenomegaly","obsolete":false,"parents":["HP:0001744","HP:0002240"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged liver and spleen"}]} +{"alt_ids":["HP:0004301"],"definition":"A structural or functional anomaly of the shoulder girdle, which which connects the upper limb to the axial skeleton via the sternoclavicular joint.","id":"HP:0001435","name":"Abnormality of the shoulder girdle musculature","obsolete":false,"parents":["HP:0001446"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the musculature of foot.","id":"HP:0001436","name":"Abnormality of the foot musculature","obsolete":false,"parents":["HP:0001437"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal foot muscles"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001437","name":"Abnormality of the musculature of the lower limbs","obsolete":false,"parents":["HP:0002814","HP:0009127"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.","id":"HP:0001438","name":"Abnormal abdomen morphology","obsolete":false,"parents":["HP:0025031"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abdomen abnormality"},{"scope":"EXACT","text":"Abnormality of abdomen morphology"},{"scope":"EXACT","text":"Abnormality of abdomen structure"},{"scope":"EXACT","text":"Abnormality of the abdomen"}]} +{"alt_ids":["HP:0004705","HP:0008098"],"definition":null,"id":"HP:0001440","name":"Metatarsal synostosis","obsolete":false,"parents":["HP:0001832","HP:0009140","HP:0100265"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fusion of metatarsals"},{"scope":"EXACT","text":"Fusion of the long bones of the feet"},{"scope":"EXACT","text":"Synostosis involving metatarsal bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001441","name":"Abnormality thigh musculature morphology","obsolete":false,"parents":["HP:0001437"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal thigh muscles"},{"scope":"EXACT","text":"Abnormality of the musculature of the thigh"}]} +{"alt_ids":["HP:0001428","HP:0001444"],"definition":"Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic.","id":"HP:0001442","name":"Typified by somatic mosaicism","obsolete":false,"parents":["HP:0034335"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Autosomal dominant somatic cell mutation"},{"scope":"EXACT","text":"Somatic mosaicism"},{"scope":"EXACT","text":"Somatic mutation"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001443","name":"Abnormality of the gluteal musculature","obsolete":false,"parents":["HP:0001469"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of glutes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001444","name":"obsolete Autosomal dominant somatic cell mutation","obsolete":true,"parents":[],"replaced_by":["HP:0001442"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001445","name":"Abnormality of the hip-girdle musculature","obsolete":false,"parents":["HP:0001469"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001446","name":"Abnormality of the musculature of the upper limbs","obsolete":false,"parents":["HP:0002817","HP:0009127"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal upper limb muscles"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001449","name":"Duplication of metatarsal bones","obsolete":false,"parents":["HP:0001832","HP:0009136"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplication of long bones of foot"}]} +{"alt_ids":[],"definition":"A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome.","id":"HP:0001450","name":"Y-linked inheritance","obsolete":false,"parents":["HP:0034345"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Y-linked"},{"scope":"EXACT","text":"monoallelic_Y_hemizygous"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001452","name":"obsolete Autosomal dominant contiguous gene syndrome","obsolete":true,"parents":[],"replaced_by":["HP:0000006"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001454","name":"Abnormality of the upper arm","obsolete":false,"parents":["HP:0002817"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001457","name":"Abnormality of the musculature of the upper arm","obsolete":false,"parents":["HP:0001446","HP:0001454"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Syndactyly with fusion of toes one to three.","id":"HP:0001459","name":"1-3 toe syndactyly","obsolete":false,"parents":["HP:0001770"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Webbed 1st-3rd toes"}]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the musculature.","id":"HP:0001460","name":"Aplasia/Hypoplasia involving the skeletal musculature","obsolete":false,"parents":["HP:0030236"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small skeletal muscles"},{"scope":"EXACT","text":"Absent/underdeveloped skeletal muscles"}]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the muscles of the shoulder.","id":"HP:0001464","name":"Aplasia/Hypoplasia involving the shoulder musculature","obsolete":false,"parents":["HP:0001435","HP:0001467"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small shoulder muscles"},{"scope":"EXACT","text":"Absent/underdeveloped shoulder muscles"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001465","name":"Amyotrophy involving the shoulder musculature","obsolete":false,"parents":["HP:0001435"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Shoulder muscle degeneration"},{"scope":"EXACT","text":"Wasting of shoulder muscles"}]} +{"alt_ids":[],"definition":"A syndrome caused by the effects of abnormality (typically a deletion or duplication) of 2 or more adjacent genes","id":"HP:0001466","name":"Contiguous gene 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+{"alt_ids":["HP:0001866"],"definition":"Osteolysis involving metatarsal bones.","id":"HP:0001473","name":"Metatarsal osteolysis","obsolete":false,"parents":["HP:0001832","HP:0009134"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Osteolysis involving metatarsal bones"}]} +{"alt_ids":[],"definition":"Increased density of the bony tissue of the scapula.","id":"HP:0001474","name":"Sclerotic scapulae","obsolete":false,"parents":["HP:0000782","HP:0011001"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the male sex.","id":"HP:0001475","name":"Male-limited expression","obsolete":false,"parents":["HP:0001470"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.","id":"HP:0001476","name":"Delayed 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+{"alt_ids":[],"definition":"Repetitive pressing, poking, and/or rubbing in the eyes.","id":"HP:0001483","name":"Eye poking","obsolete":false,"parents":["HP:0100716","HP:5200017","HP:5200065"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blindism"},{"scope":"EXACT","text":"Eye pressing"},{"scope":"EXACT","text":"Ocular auto-stimulation"},{"scope":"EXACT","text":"Oculodigital phenomenon"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001487","name":"obsolete Hypopigmented fundi","obsolete":true,"parents":[],"replaced_by":["HP:0007894"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001488","name":"Bilateral ptosis","obsolete":false,"parents":["HP:0000508"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Drooping of both upper eyelids"}]} +{"alt_ids":[],"definition":"Separation of the vitreous humor from the retina.","id":"HP:0001489","name":"Posterior vitreous 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Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements.","id":"HP:0001491","name":"Congenital fibrosis of extraocular muscles","obsolete":false,"parents":["HP:0008049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CFEOM"},{"scope":"EXACT","text":"Congenital fibrosis of the extraocular muscles"},{"scope":"EXACT","text":"Congenital ophthalmoplegia"}]} +{"alt_ids":[],"definition":"Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line.","id":"HP:0001492","name":"Axenfeld anomaly","obsolete":false,"parents":["HP:0007700"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008013"],"definition":"An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset.","id":"HP:0001493","name":"Falciform retinal fold","obsolete":false,"parents":["HP:0008052"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital retinal fold"}]} +{"alt_ids":[],"definition":"Osteolysis affecting carpal bones.","id":"HP:0001495","name":"Carpal osteolysis","obsolete":false,"parents":["HP:0001191","HP:0045039"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Carpal bone osteolysis"}]} +{"alt_ids":["HP:0001209","HP:0006029","HP:0006072","HP:0006117","HP:0006130","HP:0006227"],"definition":"Underdevelopment of one or more carpal bones.","id":"HP:0001498","name":"Carpal bone hypoplasia","obsolete":false,"parents":["HP:0006502"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplasia of carpal bones"},{"scope":"EXACT","text":"Hypoplastic carpal bones"},{"scope":"EXACT","text":"Small carpal bones"},{"scope":"EXACT","text":"Small carpals"},{"scope":"BROAD","text":"Small wrist bones"}]} +{"alt_ids":["HP:0001497"],"definition":"Increased width of a non-thumb digit of the hand.","id":"HP:0001500","name":"Broad finger","obsolete":false,"parents":["HP:0001167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad finger"},{"scope":"EXACT","text":"Broad fingers"},{"scope":"EXACT","text":"Wide fingers"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001501","name":"6 metacarpals","obsolete":false,"parents":["HP:0005917"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"6 long bones of hand"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001504","name":"Metacarpal osteolysis","obsolete":false,"parents":["HP:0005916","HP:0045039"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Metacarpals osteolysis"}]} +{"alt_ids":["HP:0008904"],"definition":null,"id":"HP:0001507","name":"Growth abnormality","obsolete":false,"parents":["HP:0000118"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal growth"},{"scope":"EXACT","text":"Growth abnormality"},{"scope":"EXACT","text":"Growth issue"}]} +{"alt_ids":["HP:0001535","HP:0008853","HP:0008878","HP:0008916"],"definition":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","id":"HP:0001508","name":"Failure to thrive","obsolete":false,"parents":["HP:0004325"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"FTT"},{"scope":"EXACT","text":"Faltering weight"},{"scope":"RELATED","text":"Poor weight gain"},{"scope":"EXACT","text":"Postnatal failure to thrive"},{"scope":"BROAD","text":"Undergrowth"},{"scope":"EXACT","text":"Weight faltering"}]} +{"alt_ids":["HP:0001434","HP:0001512","HP:0001514","HP:0001517","HP:0001532","HP:0008847","HP:0008870","HP:0008886","HP:0008893","HP:0008926"],"definition":"A deficiency or slowing down of growth pre- and postnatally.","id":"HP:0001510","name":"Growth delay","obsolete":false,"parents":["HP:0001507"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delayed growth"},{"scope":"EXACT","text":"Growth deficiency"},{"scope":"EXACT","text":"Growth delay"},{"scope":"EXACT","text":"Growth failure"},{"scope":"EXACT","text":"Growth retardation"},{"scope":"EXACT","text":"Poor growth"},{"scope":"EXACT","text":"Retarded growth"},{"scope":"RELATED","text":"Very poor growth"}]} +{"alt_ids":["HP:0001515","HP:0008862","HP:0008892","HP:0008931"],"definition":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","id":"HP:0001511","name":"Intrauterine growth retardation","obsolete":false,"parents":["HP:0001510"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"FGR"},{"scope":"EXACT","text":"Fetal growth restriction"},{"scope":"EXACT","text":"IUGR"},{"scope":"EXACT","text":"In utero growth retardation"},{"scope":"EXACT","text":"Intrauterine growth failure"},{"scope":"EXACT","text":"Intrauterine growth restriction"},{"scope":"EXACT","text":"Intrauterine growth retardation, 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age","obsolete":false,"parents":["HP:0004325"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Birth weight less than 10th percentile"},{"scope":"EXACT","text":"Low birth weight"},{"scope":"EXACT","text":"Small for gestational age"}]} +{"alt_ids":["HP:0003511","HP:0008864"],"definition":"A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.","id":"HP:0001519","name":"Disproportionate tall stature","obsolete":false,"parents":["HP:0000098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dolichostenomelia"},{"scope":"EXACT","text":"Marfanoid body habitus"},{"scope":"EXACT","text":"Marfanoid habitus"},{"scope":"EXACT","text":"Reduced upper-lower segment ratio"}]} +{"alt_ids":["HP:0001825"],"definition":"The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.","id":"HP:0001520","name":"Large for gestational age","obsolete":false,"parents":["HP:0004324"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Birth weight > 90th percentile"},{"scope":"EXACT","text":"Birthweight > 90th percentile"},{"scope":"EXACT","text":"Fetal macrosomia"},{"scope":"EXACT","text":"Foetal macrosomia"},{"scope":"EXACT","text":"Macrosomia"},{"scope":"EXACT","text":"Macrosomia, neonatal"}]} +{"alt_ids":["HP:0003816","HP:0003817","HP:0003818","HP:0003823","HP:0003827"],"definition":"Death within the first 24 months of life.","id":"HP:0001522","name":"Death in infancy","obsolete":false,"parents":["HP:0011420"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Death in early childhood"},{"scope":"EXACT","text":"Death in infancy"},{"scope":"EXACT","text":"Infantile death"},{"scope":"EXACT","text":"Lethal in infancy"}]} +{"alt_ids":["HP:0008876"],"definition":null,"id":"HP:0001525","name":"Severe failure to thrive","obsolete":false,"parents":["HP:0001508"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Marked failure to thrive"},{"scope":"EXACT","text":"Severe faltering weight"},{"scope":"EXACT","text":"Severe postnatal failure to thrive"},{"scope":"EXACT","text":"Severe weight faltering"}]} +{"alt_ids":["HP:0006416"],"definition":"Overgrowth of only one side of the body.","id":"HP:0001528","name":"Hemihypertrophy","obsolete":false,"parents":["HP:0040064","HP:0100555"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Asymmetric limb hypertrophy"},{"scope":"EXACT","text":"Asymmetric overgrowth"}]} +{"alt_ids":["HP:0008860","HP:0008917"],"definition":"A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms.","id":"HP:0001530","name":"Mild postnatal growth retardation","obsolete":false,"parents":["HP:0008897"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Mild growth deficiency"},{"scope":"EXACT","text":"Postnatal onset of mild growth retardation"}]} +{"alt_ids":["HP:0008863","HP:0008925"],"definition":null,"id":"HP:0001531","name":"Failure to thrive in infancy","obsolete":false,"parents":["HP:0001508"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Failure to thrive in first year of life"},{"scope":"EXACT","text":"Faltering weight in infancy"},{"scope":"EXACT","text":"Weight faltering in infancy"}]} +{"alt_ids":["HP:0001529"],"definition":"Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.","id":"HP:0001533","name":"Slender build","obsolete":false,"parents":["HP:0000098","HP:0004325"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Asthenic habitus"},{"scope":"EXACT","text":"Slender build"},{"scope":"EXACT","text":"Thin body habitus"},{"scope":"EXACT","text":"Thin build"}]} +{"alt_ids":[],"definition":"Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.","id":"HP:0001537","name":"Umbilical hernia","obsolete":false,"parents":["HP:0001551","HP:0004299"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Umbilical hernias"}]} +{"alt_ids":[],"definition":"A thrusting or bulging out of the abdomen.","id":"HP:0001538","name":"Protuberant abdomen","obsolete":false,"parents":["HP:0003270"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abdominal protuberance"},{"scope":"EXACT","text":"Belly sticks out"},{"scope":"EXACT","text":"Extended belly"}]} +{"alt_ids":[],"definition":"A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.","id":"HP:0001539","name":"Omphalocele","obsolete":false,"parents":["HP:0004299"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Exomphalos"},{"scope":"EXACT","text":"Omphalocoele"}]} +{"alt_ids":[],"definition":"A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).","id":"HP:0001540","name":"Diastasis recti","obsolete":false,"parents":["HP:0010991"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gap between large left and right abdominal muscles"}]} +{"alt_ids":["HP:0030995"],"definition":"Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).","id":"HP:0001541","name":"Ascites","obsolete":false,"parents":["HP:0001438"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Accumulation of fluid in the abdomen"},{"scope":"EXACT","text":"Peritoneal effusion"}]} +{"alt_ids":[],"definition":"A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus.","id":"HP:0001543","name":"Gastroschisis","obsolete":false,"parents":["HP:0010866"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally prominent umbilicus (belly button).","id":"HP:0001544","name":"Prominent umbilicus","obsolete":false,"parents":["HP:0001551"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prominent belly button"},{"scope":"EXACT","text":"Prominent navel"}]} +{"alt_ids":[],"definition":"Anterior malposition of the anus.","id":"HP:0001545","name":"Anteriorly placed anus","obsolete":false,"parents":["HP:0004397"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anteriorly displaced anus"},{"scope":"EXACT","text":"Anus anteposition"}]} +{"alt_ids":[],"definition":"A morphological anomaly of the rib cage.","id":"HP:0001547","name":"Abnormal rib cage morphology","obsolete":false,"parents":["HP:0000765"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the rib cage"}]} +{"alt_ids":[],"definition":"Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.","id":"HP:0001548","name":"Overgrowth","obsolete":false,"parents":["HP:0000098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"General overgrowth"},{"scope":"RELATED","text":"Generalised overgrowth"},{"scope":"RELATED","text":"Generalized overgrowth"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001549","name":"Abnormal ileum morphology","obsolete":false,"parents":["HP:0002244"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the ileum"}]} +{"alt_ids":[],"definition":"An abnormality of the structure or appearance of the umbilicus.","id":"HP:0001551","name":"Abnormal umbilicus morphology","obsolete":false,"parents":["HP:0004298"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal belly button"},{"scope":"EXACT","text":"Abnormal navel"},{"scope":"EXACT","text":"Abnormal umbilicus"}]} +{"alt_ids":["HP:0000781","HP:0001553"],"definition":"A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.","id":"HP:0001552","name":"Barrel-shaped chest","obsolete":false,"parents":["HP:0100625"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Barrel chest"},{"scope":"EXACT","text":"Barrel-shaped chest"}]} +{"alt_ids":[],"definition":"Lack of symmetry between the left and right halves of the thorax.","id":"HP:0001555","name":"Asymmetry of the thorax","obsolete":false,"parents":["HP:0001547"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Asymmetric chest"}]} +{"alt_ids":["HP:0007629"],"definition":"An abnormality of fetal movement.","id":"HP:0001557","name":"Prenatal movement abnormality","obsolete":false,"parents":["HP:0034059"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal intrauterine movements"}]} +{"alt_ids":["HP:0001559","HP:0006840","HP:0007630","HP:0007631"],"definition":"An abnormal reduction in quantity or strength of fetal movements.","id":"HP:0001558","name":"Decreased fetal movement","obsolete":false,"parents":["HP:0001557"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased fetal activity"},{"scope":"EXACT","text":"Decreased fetal movements"},{"scope":"EXACT","text":"Decreased foetal activity"},{"scope":"EXACT","text":"Decreased foetal movement"},{"scope":"EXACT","text":"Decreased foetal movements"},{"scope":"EXACT","text":"Decreased movement in utero"},{"scope":"EXACT","text":"Dminished fetal movement"},{"scope":"EXACT","text":"Dminished foetal movement"},{"scope":"EXACT","text":"Fetal hypokinesia"},{"scope":"EXACT","text":"Foetal hypokinesia"},{"scope":"EXACT","text":"Less than 10 fetal movements in 12 hours"},{"scope":"EXACT","text":"Less than 10 foetal movements in 12 hours"},{"scope":"EXACT","text":"Reduced fetal movement"},{"scope":"EXACT","text":"Reduced fetal movements"},{"scope":"EXACT","text":"Reduced foetal movement"},{"scope":"EXACT","text":"Reduced foetal movements"}]} +{"alt_ids":[],"definition":"Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus.","id":"HP:0001560","name":"Abnormality of the amniotic fluid","obsolete":false,"parents":["HP:0001197"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal amniotic fluid"}]} +{"alt_ids":["HP:0005098"],"definition":"The presence of excess amniotic fluid in the uterus during pregnancy.","id":"HP:0001561","name":"Polyhydramnios","obsolete":false,"parents":["HP:0001560"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High levels of amniotic fluid"},{"scope":"EXACT","text":"Hydramnios"},{"scope":"RELATED","text":"Increased amniotic fluid index"}]} +{"alt_ids":["HP:0004638"],"definition":"Diminished amniotic fluid volume in pregnancy.","id":"HP:0001562","name":"Oligohydramnios","obsolete":false,"parents":["HP:0001560"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Decreased amniotic fluid index"},{"scope":"EXACT","text":"Low levels of amniotic fluid"},{"scope":"EXACT","text":"Maternal oligohydramnios"}]} +{"alt_ids":[],"definition":"Abnormally increased production of urine by the fetus resulting in polyhydramnios.","id":"HP:0001563","name":"Fetal polyuria","obsolete":false,"parents":["HP:0001560"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foetal polyuria"}]} +{"alt_ids":["HP:0000669","HP:0001570","HP:0006300","HP:0006324"],"definition":"Increased distance between the maxillary central permanent incisor tooth.","id":"HP:0001566","name":"Widely-spaced maxillary central incisors","obsolete":false,"parents":["HP:0006304"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Central incisor gap"},{"scope":"EXACT","text":"Diastasis of the central incisors"},{"scope":"NARROW","text":"Diastema between maxillary central incisors"},{"scope":"NARROW","text":"Diastema between upper front teeth"},{"scope":"NARROW","text":"Diastema between upper incisors"},{"scope":"EXACT","text":"Gap between upper front teeth"},{"scope":"EXACT","text":"Separated superior central incisors"},{"scope":"EXACT","text":"Wide gap between upper central incisors"},{"scope":"EXACT","text":"Wide upper central incisors"},{"scope":"EXACT","text":"Widely spaced upper incisors"}]} +{"alt_ids":[],"definition":"The presence of multiple impacted teeth.","id":"HP:0001571","name":"Multiple impacted teeth","obsolete":false,"parents":["HP:0011079"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Impacted teeth"},{"scope":"BROAD","text":"Multiple buried teeth"},{"scope":"EXACT","text":"Multiple impacted teeth"},{"scope":"BROAD","text":"Multiple retained teeth"}]} +{"alt_ids":[],"definition":"Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.","id":"HP:0001572","name":"Macrodontia","obsolete":false,"parents":["HP:0006482"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Hyperplasia of tooth"},{"scope":"BROAD","text":"Hypertrophy of tooth"},{"scope":"EXACT","text":"Increased size of tooth"},{"scope":"EXACT","text":"Increased width of tooth"},{"scope":"EXACT","text":"Large tooth"},{"scope":"EXACT","text":"Megalodontia"},{"scope":"RELATED","text":"Tooth mass excess"}]} +{"alt_ids":[],"definition":"An abnormality of the integument, which consists of the skin and the superficial fascia.","id":"HP:0001574","name":"Abnormality of the integument","obsolete":false,"parents":["HP:0000118"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001575","name":"obsolete Mood changes","obsolete":true,"parents":[],"replaced_by":["HP:0000712"],"synonyms":[]} +{"alt_ids":[],"definition":"Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol.","id":"HP:0001579","name":"Primary hypercortisolism","obsolete":false,"parents":["HP:0003118"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"ACTH-independent hypercortisolemia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001580","name":"Pigmented micronodular adrenocortical disease","obsolete":false,"parents":["HP:0000849"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007563"],"definition":"Infections of the skin that happen multiple times.","id":"HP:0001581","name":"Recurrent skin infections","obsolete":false,"parents":["HP:0032162"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent cutaneous infections"},{"scope":"EXACT","text":"Recurrent skin infections"},{"scope":"EXACT","text":"Skin infections, recurrent"}]} +{"alt_ids":["HP:0007391"],"definition":"Loose and sagging skin often associated with loss of skin elasticity.","id":"HP:0001582","name":"Redundant skin","obsolete":false,"parents":["HP:0000973"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Loose redundant skin"},{"scope":"EXACT","text":"Redundant skin folds"},{"scope":"EXACT","text":"Sagging, redundant skin"}]} +{"alt_ids":[],"definition":"A form of nystagmus in which the eyeball makes rotary motions around the axis.","id":"HP:0001583","name":"Rotary nystagmus","obsolete":false,"parents":["HP:0000639"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rotatory Nystagmus"}]} +{"alt_ids":[],"definition":"The presence of a fistula connecting the urinary bladder to the vagina.","id":"HP:0001586","name":"Vesicovaginal fistula","obsolete":false,"parents":["HP:0004320","HP:0004321"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001587","name":"obsolete Primary ovarian failure","obsolete":true,"parents":[],"replaced_by":["HP:0008209"],"synonyms":[]} +{"alt_ids":["HP:0006626","HP:0006664"],"definition":"The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.","id":"HP:0001591","name":"Bell-shaped thorax","obsolete":false,"parents":["HP:0001547"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bell-shaped chest"},{"scope":"EXACT","text":"Constricted, bell-shaped thorax"},{"scope":"EXACT","text":"Narrow, bell-shaped thorax"}]} +{"alt_ids":[],"definition":"Agenesis of some but not all teeth.","id":"HP:0001592","name":"Selective tooth agenesis","obsolete":false,"parents":["HP:0009804"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Absence of a tooth"},{"scope":"EXACT","text":"Agenesis of a tooth"},{"scope":"EXACT","text":"Failure of development of a tooth"},{"scope":"RELATED","text":"Missing a tooth"}]} +{"alt_ids":[],"definition":"Decreased size of the maxillary permanent incisor.","id":"HP:0001593","name":"Maxillary lateral incisor microdontia","obsolete":false,"parents":["HP:0000691","HP:0011063"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Decreased size of maxillary lateral incisor"},{"scope":"BROAD","text":"Decreased size of upper lateral incisor"},{"scope":"EXACT","text":"Decreased width of upper lateral incisor"},{"scope":"BROAD","text":"Hypotrophic maxillary lateral incisor"},{"scope":"BROAD","text":"Hypotrophic upper lateral incisor"},{"scope":"BROAD","text":"Small maxillary lateral incisor"},{"scope":"BROAD","text":"Small upper lateral incisor"}]} +{"alt_ids":[],"definition":"An abnormality of the hair.","id":"HP:0001595","name":"Abnormal hair morphology","obsolete":false,"parents":["HP:0011138"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the hair"},{"scope":"NARROW","text":"Abnormality of the hair shaft"},{"scope":"EXACT","text":"Hair abnormality"}]} +{"alt_ids":["HP:0002238","HP:0008068"],"definition":"A noncongenital process of hair loss, which may progress to partial or complete baldness.","id":"HP:0001596","name":"Alopecia","obsolete":false,"parents":["HP:0011362"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hair loss"}]} +{"alt_ids":[],"definition":"Abnormal structure or appearance of the nail.","id":"HP:0001597","name":"Abnormal nail morphology","obsolete":false,"parents":["HP:0011138"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the nail"},{"scope":"RELATED","text":"Nail disease"}]} +{"alt_ids":["HP:0001815"],"definition":"The natural longitudinal (posterodistal) convex arch is not present or is inverted.","id":"HP:0001598","name":"Concave nail","obsolete":false,"parents":["HP:0002164"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Koilonychia"},{"scope":"EXACT","text":"Spoon-shaped nails"}]} +{"alt_ids":[],"definition":"An abnormality of the larynx.","id":"HP:0001600","name":"Abnormality of the larynx","obsolete":false,"parents":["HP:0002087"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Laryngeal abnormalities"},{"scope":"EXACT","text":"Laryngeal anomalies"}]} +{"alt_ids":[],"definition":"Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.","id":"HP:0001601","name":"Laryngomalacia","obsolete":false,"parents":["HP:0025423"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Softening of voice box tissue"}]} +{"alt_ids":[],"definition":"Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing.","id":"HP:0001602","name":"Laryngeal stenosis","obsolete":false,"parents":["HP:0025423"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001603","HP:0001616","HP:0008745"],"definition":"Decreased strength of the vocal folds.","id":"HP:0001604","name":"Vocal cord paresis","obsolete":false,"parents":["HP:0001605"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hoarse voice due to vocal cord paresis"},{"scope":"EXACT","text":"Vocal cord paresis in severe cases"},{"scope":"EXACT","text":"Weakness of the vocal cords"}]} +{"alt_ids":["HP:0001606","HP:0006847"],"definition":"A loss of the ability to move the vocal folds.","id":"HP:0001605","name":"Vocal cord paralysis","obsolete":false,"parents":["HP:0003470","HP:0031801"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inability to move vocal cords"},{"scope":"EXACT","text":"Laryngeal paralysis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001606","name":"obsolete Vocal cord paralysis (caused by tumor impingement)","obsolete":true,"parents":[],"replaced_by":["HP:0001605"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001607","name":"Subglottic stenosis","obsolete":false,"parents":["HP:0025423"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001608","name":"Abnormality of the voice","obsolete":false,"parents":["HP:0000118"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the voice"},{"scope":"EXACT","text":"Voice abnormality"}]} +{"alt_ids":["HP:0001613","HP:0001619"],"definition":"Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.","id":"HP:0001609","name":"Hoarse voice","obsolete":false,"parents":["HP:0001608"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hoarse voice"},{"scope":"EXACT","text":"Hoarseness"},{"scope":"EXACT","text":"Husky voice"}]} +{"alt_ids":["HP:0001614"],"definition":"A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.","id":"HP:0001611","name":"Hypernasal speech","obsolete":false,"parents":["HP:0001608"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypernasal voice"},{"scope":"EXACT","text":"Nasal speech"},{"scope":"EXACT","text":"Nasal voice"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001612","name":"Weak cry","obsolete":false,"parents":["HP:0025429"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001613","name":"obsolete Hoarse voice (caused by tumor impingement)","obsolete":true,"parents":[],"replaced_by":["HP:0001609"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001615","name":"Hoarse cry","obsolete":false,"parents":["HP:0001609"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hoarse cry"}]} +{"alt_ids":[],"definition":"Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.","id":"HP:0001618","name":"Dysphonia","obsolete":false,"parents":["HP:0001608"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inability to produce voice sounds"},{"scope":"EXACT","text":"Voice change"}]} +{"alt_ids":["HP:0001610","HP:0008374","HP:0008377","HP:0008378","HP:0008379","HP:0009146"],"definition":"A persistent (minutes to hours) abnormal increase in the pitch (frequency) of the voice for the context or social situation or significantly different from baseline of the individual.","id":"HP:0001620","name":"Abnormally high-pitched voice","obsolete":false,"parents":["HP:5200005"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High pitched voice"},{"scope":"EXACT","text":"High-pitched voice"}]} +{"alt_ids":[],"definition":"Reduced intensity (volume) of speech.","id":"HP:0001621","name":"Weak voice","obsolete":false,"parents":["HP:0001608"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Hypophonia"},{"scope":"EXACT","text":"Quiet voice"},{"scope":"EXACT","text":"Soft voice"},{"scope":"EXACT","text":"Weak voice"}]} +{"alt_ids":[],"definition":"The birth of a baby of less than 37 weeks of gestational age.","id":"HP:0001622","name":"Premature birth","obsolete":false,"parents":["HP:0001197"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Premature birth"},{"scope":"EXACT","text":"Premature delivery"},{"scope":"EXACT","text":"Premature delivery of affected infants"},{"scope":"EXACT","text":"Preterm birth"},{"scope":"EXACT","text":"Preterm delivery"},{"scope":"EXACT","text":"Shortened gestation time"}]} +{"alt_ids":[],"definition":"A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.","id":"HP:0001623","name":"Breech presentation","obsolete":false,"parents":["HP:0001787"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Breech presentation at birth"},{"scope":"EXACT","text":"Feet or buttocks of fetus positioned near opening of uterus"},{"scope":"EXACT","text":"Feet or buttocks of foetus positioned near opening of uterus"}]} +{"alt_ids":["HP:0003114","HP:0003116"],"definition":"Any abnormality of the cardiovascular system.","id":"HP:0001626","name":"Abnormality of the cardiovascular system","obsolete":false,"parents":["HP:0000118"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the cardiovascular system"},{"scope":"EXACT","text":"Cardiovascular abnormality"},{"scope":"RELATED","text":"Cardiovascular disease"}]} +{"alt_ids":["HP:3000001"],"definition":"Any structural anomaly of the heart.","id":"HP:0001627","name":"Abnormal heart morphology","obsolete":false,"parents":["HP:0030680"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of cardiac morphology"},{"scope":"EXACT","text":"Abnormality of the heart"},{"scope":"EXACT","text":"Abnormally shaped heart"},{"scope":"EXACT","text":"Cardiac abnormality"},{"scope":"EXACT","text":"Cardiac anomalies"},{"scope":"EXACT","text":"Cardiac anomaly"},{"scope":"EXACT","text":"Congenital heart defect"},{"scope":"EXACT","text":"Congenital heart defects"},{"scope":"EXACT","text":"Heart defect"}]} +{"alt_ids":["HP:0001652"],"definition":"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.","id":"HP:0001629","name":"Ventricular septal defect","obsolete":false,"parents":["HP:0010438"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hole in heart wall separating two lower heart chambers"},{"scope":"EXACT","text":"VSD"},{"scope":"EXACT","text":"Ventricular septal defects"},{"scope":"EXACT","text":"Ventriculoseptal defect"}]} +{"alt_ids":["HP:0001630"],"definition":"Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.","id":"HP:0001631","name":"Atrial septal defect","obsolete":false,"parents":["HP:0005120","HP:0011994"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ASD"},{"scope":"EXACT","text":"An opening in the wall separating the top two chambers of the heart"},{"scope":"EXACT","text":"Atria septal defect"},{"scope":"EXACT","text":"Atrial septum defect"},{"scope":"EXACT","text":"Atrioseptal defect"},{"scope":"EXACT","text":"Defect in the atrial septum"},{"scope":"EXACT","text":"Hole in heart wall separating two upper heart chambers"}]} +{"alt_ids":["HP:0031477"],"definition":"Any structural anomaly of the mitral valve.","id":"HP:0001633","name":"Abnormal mitral valve morphology","obsolete":false,"parents":["HP:0006705"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the mitral valve"}]} +{"alt_ids":[],"definition":"One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.","id":"HP:0001634","name":"Mitral valve prolapse","obsolete":false,"parents":["HP:0001633"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006686"],"definition":"The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.","id":"HP:0001635","name":"Congestive heart failure","obsolete":false,"parents":["HP:0011025"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CHF"},{"scope":"EXACT","text":"Cardiac failure"},{"scope":"EXACT","text":"Cardiac failures"},{"scope":"EXACT","text":"Cardiac insufficiency"},{"scope":"EXACT","text":"Chronic heart failure"},{"scope":"EXACT","text":"Heart failure"}]} +{"alt_ids":[],"definition":"A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.","id":"HP:0001636","name":"Tetralogy of Fallot","obsolete":false,"parents":["HP:0001710"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tetrology of fallot"}]} +{"alt_ids":[],"definition":"A structural anomaly of the muscle layer of the heart wall.","id":"HP:0001637","name":"Abnormal myocardium morphology","obsolete":false,"parents":["HP:0001627"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the myocardium"}]} +{"alt_ids":[],"definition":"A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.","id":"HP:0001638","name":"Cardiomyopathy","obsolete":false,"parents":["HP:0001637"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disease of the heart muscle"}]} +{"alt_ids":[],"definition":"Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.","id":"HP:0001639","name":"Hypertrophic cardiomyopathy","obsolete":false,"parents":["HP:0001638"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cardiomyopathy, hypertrophic"},{"scope":"EXACT","text":"Enlarged and thickened heart muscle"},{"scope":"EXACT","text":"HCM"}]} +{"alt_ids":[],"definition":"Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.","id":"HP:0001640","name":"Cardiomegaly","obsolete":false,"parents":["HP:0001627"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged heart"},{"scope":"EXACT","text":"Increased heart size"}]} +{"alt_ids":[],"definition":"Any structural abnormality of the pulmonary valve.","id":"HP:0001641","name":"Abnormal pulmonary valve morphology","obsolete":false,"parents":["HP:0001654"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the pulmonary valve"},{"scope":"EXACT","text":"Anomaly of the pulmonary valve"}]} +{"alt_ids":[],"definition":"A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).","id":"HP:0001642","name":"Pulmonic stenosis","obsolete":false,"parents":["HP:0031654"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrowing of pulmonic valve"},{"scope":"EXACT","text":"Pulmonary stenosis"},{"scope":"EXACT","text":"Pulmonary valve stenosis"},{"scope":"EXACT","text":"Pulmonic valve stenosis"}]} +{"alt_ids":[],"definition":"In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.","id":"HP:0001643","name":"Patent ductus arteriosus","obsolete":false,"parents":["HP:0011603"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ductus arteriosus"},{"scope":"EXACT","text":"PDA"},{"scope":"EXACT","text":"Patent ductus Botalli"},{"scope":"EXACT","text":"Persistent arterial duct"},{"scope":"EXACT","text":"Persistent ductus arteriosus"}]} +{"alt_ids":["HP:0001725","HP:0005159","HP:0200130"],"definition":"Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.","id":"HP:0001644","name":"Dilated cardiomyopathy","obsolete":false,"parents":["HP:0001638"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cardiomyopathy, dilated"},{"scope":"EXACT","text":"Congestive cardiomyopathy"},{"scope":"EXACT","text":"DCM"},{"scope":"EXACT","text":"Stretched and thinned heart muscle"}]} +{"alt_ids":["HP:0005161"],"definition":"The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).","id":"HP:0001645","name":"Sudden cardiac death","obsolete":false,"parents":["HP:0001695","HP:0001699"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Premature sudden cardiac death"},{"scope":"EXACT","text":"Sudden cardiac death"}]} +{"alt_ids":[],"definition":"Any abnormality of the aortic valve.","id":"HP:0001646","name":"Abnormal aortic valve morphology","obsolete":false,"parents":["HP:0001654"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the aortic valve"}]} +{"alt_ids":[],"definition":"The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps).","id":"HP:0001647","name":"Bicuspid aortic valve","obsolete":false,"parents":["HP:0031567"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aortic valve has two leaflets rather than three"}]} +{"alt_ids":[],"definition":"Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.","id":"HP:0001648","name":"Cor pulmonale","obsolete":false,"parents":["HP:0001707"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001673","HP:0001720"],"definition":"A rapid heartrate that exceeds the range of the normal resting heartrate for age.","id":"HP:0001649","name":"Tachycardia","obsolete":false,"parents":["HP:0011675"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Elevated heart rate"},{"scope":"EXACT","text":"Fast heart rate"},{"scope":"EXACT","text":"Heart racing"},{"scope":"RELATED","text":"Increased heart rate"},{"scope":"EXACT","text":"Racing heart"},{"scope":"RELATED","text":"Rapid heart beat"}]} +{"alt_ids":["HP:0005140"],"definition":"The presence of a stenosis (narrowing) of the aortic valve.","id":"HP:0001650","name":"Aortic valve stenosis","obsolete":false,"parents":["HP:0031652"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aortic stenosis"},{"scope":"EXACT","text":"Narrowing of aortic valve"},{"scope":"EXACT","text":"Valvular aortic stenosis"}]} +{"alt_ids":[],"definition":"The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or \"mirror reflection\") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.","id":"HP:0001651","name":"Dextrocardia","obsolete":false,"parents":["HP:0004307"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Heart tip and four chambers point towards right side of body"},{"scope":"EXACT","text":"Thoracic situs inversus"}]} +{"alt_ids":[],"definition":"An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.","id":"HP:0001653","name":"Mitral regurgitation","obsolete":false,"parents":["HP:0031481","HP:0034376"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mitral incompetence"},{"scope":"EXACT","text":"Mitral insufficiency"},{"scope":"RELATED","text":"Mitral regurgitation, mild"},{"scope":"EXACT","text":"Mitral valve insufficiency"},{"scope":"EXACT","text":"Mitral valve regurgitation"}]} +{"alt_ids":["HP:0001703"],"definition":"Any structural abnormality of a cardiac valve.","id":"HP:0001654","name":"Abnormal heart valve morphology","obsolete":false,"parents":["HP:0001627"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the heart valves"},{"scope":"EXACT","text":"Valvular abnormality"},{"scope":"RELATED","text":"Valvular heart disease"}]} +{"alt_ids":[],"definition":"Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.","id":"HP:0001655","name":"Patent foramen ovale","obsolete":false,"parents":["HP:0011994"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"PFO"},{"scope":"EXACT","text":"Persistent foramen ovale"}]} +{"alt_ids":[],"definition":"Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).","id":"HP:0001657","name":"Prolonged QT interval","obsolete":false,"parents":["HP:0031547"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Long Q-T syndrome"},{"scope":"EXACT","text":"Long QT syndrome"},{"scope":"EXACT","text":"Prolong qt interval on ekg"}]} +{"alt_ids":[],"definition":"Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.","id":"HP:0001658","name":"Myocardial infarction","obsolete":false,"parents":["HP:0033678"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Heart attack"},{"scope":"EXACT","text":"MI"}]} +{"alt_ids":[],"definition":"An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.","id":"HP:0001659","name":"Aortic regurgitation","obsolete":false,"parents":["HP:0031652"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aortic insufficiency"},{"scope":"EXACT","text":"Aortic valve regurgitation"}]} +{"alt_ids":[],"definition":"A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.","id":"HP:0001660","name":"Truncus arteriosus","obsolete":false,"parents":["HP:0011603"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Common arterial trunk"},{"scope":"RELATED","text":"Persistent truncus arteriosus"}]} +{"alt_ids":[],"definition":"A slower than normal heart rate (in adults, slower than 60 beats per minute).","id":"HP:0001662","name":"Bradycardia","obsolete":false,"parents":["HP:0011675"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brachycardia"},{"scope":"EXACT","text":"Slow heartbeats"}]} +{"alt_ids":["HP:0005166"],"definition":"Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.","id":"HP:0001663","name":"Ventricular fibrillation","obsolete":false,"parents":["HP:0004308"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG.","id":"HP:0001664","name":"Torsade de pointes","obsolete":false,"parents":["HP:0004308"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Torsades de pointes"}]} +{"alt_ids":[],"definition":"In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.","id":"HP:0001667","name":"Right ventricular hypertrophy","obsolete":false,"parents":["HP:0001707","HP:0001714"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Heart right ventricle hypertrophy"}]} +{"alt_ids":[],"definition":"A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle.","id":"HP:0001669","name":"Transposition of the great arteries","obsolete":false,"parents":["HP:0011563","HP:0011603"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"TGA"},{"scope":"EXACT","text":"TGV"},{"scope":"EXACT","text":"Transposition of great vessels"}]} +{"alt_ids":[],"definition":"Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray.","id":"HP:0001670","name":"Asymmetric septal hypertrophy","obsolete":false,"parents":["HP:0001639"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001690","HP:0004760"],"definition":"An anomaly of the intra-atrial or intraventricular septum.","id":"HP:0001671","name":"Abnormal cardiac septum morphology","obsolete":false,"parents":["HP:0001627"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the cardiac septa"},{"scope":"EXACT","text":"Heart septal defect"},{"scope":"EXACT","text":"Septal defects"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001673","name":"obsolete Tachycardia (with pheochromocytoma)","obsolete":true,"parents":[],"replaced_by":["HP:0001649"],"synonyms":[]} +{"alt_ids":["HP:0001689","HP:0006697"],"definition":"A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect.","id":"HP:0001674","name":"Complete atrioventricular canal defect","obsolete":false,"parents":["HP:0006695"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Common atrioventricular canal"},{"scope":"EXACT","text":"Complete atrioventricular canal"},{"scope":"EXACT","text":"Complete atrioventricular septal defect"},{"scope":"EXACT","text":"Complete common AV canal"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001675","name":"obsolete Rhythm disturbances associated with pheochromocytoma","obsolete":true,"parents":[],"replaced_by":["HP:0011675"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001676","name":"obsolete Palpitations (with pheochromocytoma)","obsolete":true,"parents":[],"replaced_by":["HP:0001962"],"synonyms":[]} +{"alt_ids":["HP:0004929","HP:0005138"],"definition":"Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.","id":"HP:0001677","name":"Coronary artery atherosclerosis","obsolete":false,"parents":["HP:0002621","HP:0006704","HP:0100545"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Coronary atherosclerosis"},{"scope":"EXACT","text":"Coronary disease"},{"scope":"EXACT","text":"Plaque build-up in arteries supplying blood to heart"}]} +{"alt_ids":["HP:0001668","HP:0005142","HP:0006672"],"definition":"Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.","id":"HP:0001678","name":"Atrioventricular block","obsolete":false,"parents":["HP:0005150","HP:0012722"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Atrioventricular nodal disease"},{"scope":"EXACT","text":"Interruption of electrical communication between upper and lower chambers of heart"}]} +{"alt_ids":["HP:0030963"],"definition":"An abnormality of the aorta.","id":"HP:0001679","name":"Abnormal aortic morphology","obsolete":false,"parents":["HP:0011004","HP:0030962"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal aorta morphology"},{"scope":"EXACT","text":"Abnormality of the aorta"}]} +{"alt_ids":[],"definition":"Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.","id":"HP:0001680","name":"Coarctation of aorta","obsolete":false,"parents":["HP:0001679"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aortic coarctation"},{"scope":"EXACT","text":"Coarctation of the aorta"},{"scope":"EXACT","text":"Narrowing of aorta"},{"scope":"EXACT","text":"Narrowing of the aorta"}]} +{"alt_ids":[],"definition":"Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.","id":"HP:0001681","name":"Angina pectoris","obsolete":false,"parents":["HP:0011025"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.","id":"HP:0001682","name":"Subvalvular aortic stenosis","obsolete":false,"parents":["HP:0011103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrowing of blood vessel below aortic heart valve"},{"scope":"EXACT","text":"Subaortic stenosis"}]} +{"alt_ids":[],"definition":"Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall.","id":"HP:0001683","name":"Ectopia cordis","obsolete":false,"parents":["HP:0004307"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0200131"],"definition":"A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.","id":"HP:0001684","name":"Secundum atrial septal defect","obsolete":false,"parents":["HP:0001631"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atrial septal defect, ostium secundum type"},{"scope":"EXACT","text":"Ostium secundum atrial septal defect"},{"scope":"EXACT","text":"Patent ostium secundum"}]} +{"alt_ids":[],"definition":"Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts.","id":"HP:0001685","name":"Myocardial fibrosis","obsolete":false,"parents":["HP:0001637"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001686","name":"Loss of voice","obsolete":false,"parents":["HP:0001608"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aphonia"}]} +{"alt_ids":["HP:0005137"],"definition":"Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.","id":"HP:0001688","name":"Sinus bradycardia","obsolete":false,"parents":["HP:0001662","HP:0011702"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract.","id":"HP:0001691","name":"Muscular subvalvular aortic stenosis","obsolete":false,"parents":["HP:0001682"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscular subaortic stenosis"}]} +{"alt_ids":[],"definition":"A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance.","id":"HP:0001692","name":"Atrial arrhythmia","obsolete":false,"parents":["HP:0005115"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Primary atrial arrhythmia"}]} +{"alt_ids":[],"definition":"Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system.","id":"HP:0001693","name":"Cardiac shunt","obsolete":false,"parents":["HP:0011028"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left.","id":"HP:0001694","name":"Right-to-left shunt","obsolete":false,"parents":["HP:0001693"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abrupt loss of heart function.","id":"HP:0001695","name":"Cardiac arrest","obsolete":false,"parents":["HP:0011675"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Heart stops beating"}]} +{"alt_ids":[],"definition":"A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.","id":"HP:0001696","name":"Situs inversus totalis","obsolete":false,"parents":["HP:0001651","HP:0011534"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"All organs on wrong side of body"},{"scope":"RELATED","text":"Situs inversus"},{"scope":"EXACT","text":"situs oppositus"},{"scope":"EXACT","text":"situs transversus"}]} +{"alt_ids":[],"definition":"An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery.","id":"HP:0001697","name":"Abnormal pericardium morphology","obsolete":false,"parents":["HP:0001627"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the pericardium"}]} +{"alt_ids":[],"definition":"Accumulation of fluid within the pericardium.","id":"HP:0001698","name":"Pericardial effusion","obsolete":false,"parents":["HP:0001697"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fluid around heart"},{"scope":"EXACT","text":"Pericardial effusions"}]} +{"alt_ids":[],"definition":"Rapid and unexpected death.","id":"HP:0001699","name":"Sudden death","obsolete":false,"parents":["HP:0025142"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction).","id":"HP:0001700","name":"Myocardial necrosis","obsolete":false,"parents":["HP:0001637"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the sac-like covering around the heart (pericardium).","id":"HP:0001701","name":"Pericarditis","obsolete":false,"parents":["HP:0001697","HP:0045073"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Swelling or irritation of membrane around heart"}]} +{"alt_ids":["HP:0031440"],"definition":"Any structural anomaly of the tricuspid valve.","id":"HP:0001702","name":"Abnormal tricuspid valve morphology","obsolete":false,"parents":["HP:0006705"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the tricuspid valve"}]} +{"alt_ids":[],"definition":"One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle.","id":"HP:0001704","name":"Tricuspid valve prolapse","obsolete":false,"parents":["HP:0001702"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An obstruction to the forward flow of blood in the outflow tract of the right ventricle.","id":"HP:0001705","name":"Right ventricular outlet tract obstruction","obsolete":false,"parents":["HP:0033118"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Right ventricular outlet obstruction"}]} +{"alt_ids":[],"definition":"Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction","id":"HP:0001706","name":"Endocardial fibroelastosis","obsolete":false,"parents":["HP:0004306"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the right ventricle of the heart.","id":"HP:0001707","name":"Abnormal right ventricle morphology","obsolete":false,"parents":["HP:0001713"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the right ventricle"},{"scope":"EXACT","text":"Right ventricular abnormality"}]} +{"alt_ids":[],"definition":"Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly.","id":"HP:0001708","name":"Right ventricular failure","obsolete":false,"parents":["HP:0033118"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Impaired right ventricular function"},{"scope":"EXACT","text":"Right ventricular impairment"},{"scope":"EXACT","text":"Right-sided heart failure"}]} +{"alt_ids":[],"definition":"Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them.","id":"HP:0001709","name":"Third degree atrioventricular block","obsolete":false,"parents":["HP:0001678"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete heart block"},{"scope":"RELATED","text":"Third-degree heart block"}]} +{"alt_ids":[],"definition":"A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle.","id":"HP:0001710","name":"Conotruncal defect","obsolete":false,"parents":["HP:0011563","HP:0011603"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Conotruncal heart defects"}]} +{"alt_ids":[],"definition":"Any structural abnormality of the left ventricle of the heart.","id":"HP:0001711","name":"Abnormal left ventricle morphology","obsolete":false,"parents":["HP:0001713"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal heart left ventricle morphology"},{"scope":"EXACT","text":"Abnormality of the left ventricle"},{"scope":"EXACT","text":"Left ventricular abnormality"}]} +{"alt_ids":["HP:0005171"],"definition":"Enlargement or increased size of the heart left ventricle.","id":"HP:0001712","name":"Left ventricular hypertrophy","obsolete":false,"parents":["HP:0001711","HP:0001714"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Heart left ventricle hypertrophy"},{"scope":"EXACT","text":"Left ventricular wall hypertrophy"}]} +{"alt_ids":[],"definition":"An abnormality of a cardiac ventricle.","id":"HP:0001713","name":"Abnormal cardiac ventricle morphology","obsolete":false,"parents":["HP:0001627"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of cardiac ventricle"}]} +{"alt_ids":["HP:0005167"],"definition":"Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.","id":"HP:0001714","name":"Ventricular hypertrophy","obsolete":false,"parents":["HP:0001713"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway.","id":"HP:0001716","name":"Wolff-Parkinson-White syndrome","obsolete":false,"parents":["HP:0004309"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery.","id":"HP:0001717","name":"Coronary artery calcification","obsolete":false,"parents":["HP:0003207","HP:0006704"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005163"],"definition":"An abnormal narrowing of the orifice of the mitral valve.","id":"HP:0001718","name":"Mitral stenosis","obsolete":false,"parents":["HP:0031481"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mitral valve stenosis"}]} +{"alt_ids":[],"definition":"Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle.","id":"HP:0001719","name":"Double outlet right ventricle","obsolete":false,"parents":["HP:0001710","HP:0011723"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"DORV"},{"scope":"EXACT","text":"Double-outlet right ventricle"}]} +{"alt_ids":[],"definition":"A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others.","id":"HP:0001722","name":"High-output congestive heart failure","obsolete":false,"parents":["HP:0001635"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005130"],"definition":"Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness.","id":"HP:0001723","name":"Restrictive cardiomyopathy","obsolete":false,"parents":["HP:0001638"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001724","name":"obsolete Aortic dilatation","obsolete":true,"parents":[],"replaced_by":["HP:0004942"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001726","name":"obsolete Increased prevalence of valvular disease","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A cerebrovascular accident (stroke) that occurs because of thromboembolism.","id":"HP:0001727","name":"Thromboembolic stroke","obsolete":false,"parents":["HP:0001907"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008590"],"definition":"A form of hearing impairment that remains stable over time.","id":"HP:0001730","name":"Progressive hearing impairment","obsolete":false,"parents":["HP:0000365"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Progressive hearing loss"}]} +{"alt_ids":[],"definition":"An abnormality of the pancreas.","id":"HP:0001732","name":"Abnormality of the pancreas","obsolete":false,"parents":["HP:0002012"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the pancreas"},{"scope":"RELATED","text":"Pancreatic disease"}]} +{"alt_ids":[],"definition":"The presence of inflammation in the pancreas.","id":"HP:0001733","name":"Pancreatitis","obsolete":false,"parents":["HP:0012091","HP:0012649"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pancreatic inflammation"}]} +{"alt_ids":[],"definition":"A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.","id":"HP:0001734","name":"Annular pancreas","obsolete":false,"parents":["HP:0012090"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004512"],"definition":"A acute form of pancreatitis.","id":"HP:0001735","name":"Acute pancreatitis","obsolete":false,"parents":["HP:0001733"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acute pancreatic inflammation"},{"scope":"EXACT","text":"Pancreatitis, acute"}]} +{"alt_ids":[],"definition":"A cyst of the pancreas that possess a lining of mucous epithelium.","id":"HP:0001737","name":"Pancreatic cysts","obsolete":false,"parents":["HP:0012090"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Multiple pancreatic cysts"},{"scope":"RELATED","text":"Pancreatic cyst"},{"scope":"EXACT","text":"Pancreatic cysts"}]} +{"alt_ids":["HP:0002581","HP:0004508","HP:0004509"],"definition":"Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.","id":"HP:0001738","name":"Exocrine pancreatic insufficiency","obsolete":false,"parents":["HP:0012092"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inability to properly digest food due to lack of pancreatic digestive enzymes"},{"scope":"RELATED","text":"Pancreatic insufficiency"}]} +{"alt_ids":[],"definition":"A structural anomaly of the nasopharynx.","id":"HP:0001739","name":"Abnormal nasopharynx morphology","obsolete":false,"parents":["HP:0000366","HP:0033151"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the nasopharynx"}]} +{"alt_ids":[],"definition":"The male foreskin cannot be fully retracted from the head of the penis.","id":"HP:0001741","name":"Phimosis","obsolete":false,"parents":["HP:0100587"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced ability to pass air through the nasal cavity often leading to mouth breathing.","id":"HP:0001742","name":"Nasal congestion","obsolete":false,"parents":["HP:0000366"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blockage of nose"},{"scope":"NARROW","text":"Congestion of nose"},{"scope":"EXACT","text":"Nasal blockage"},{"scope":"EXACT","text":"Nasal obstruction"},{"scope":"EXACT","text":"Obstruction of nose"},{"scope":"EXACT","text":"Stuffy nose"}]} +{"alt_ids":[],"definition":"An abnormality of the spleen.","id":"HP:0001743","name":"Abnormality of the spleen","obsolete":false,"parents":["HP:0002012","HP:0100763"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the spleen"}]} +{"alt_ids":["HP:0001745","HP:0006269"],"definition":"Abnormal increased size of the spleen.","id":"HP:0001744","name":"Splenomegaly","obsolete":false,"parents":["HP:0003271","HP:0025408"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased spleen size"},{"scope":"EXACT","text":"Large spleen"}]} +{"alt_ids":[],"definition":"Absence (aplasia) of the spleen.","id":"HP:0001746","name":"Asplenia","obsolete":false,"parents":["HP:0010451"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent spleen"}]} +{"alt_ids":[],"definition":"An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.","id":"HP:0001747","name":"Accessory spleen","obsolete":false,"parents":["HP:0009799"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001749","HP:0006271","HP:0006272"],"definition":"Polysplenia is a congenital disease manifested by multiple small accessory spleens.","id":"HP:0001748","name":"Polysplenia","obsolete":false,"parents":["HP:0009799"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Accessory spleens"},{"scope":"EXACT","text":"Multiple accessory spleens"},{"scope":"EXACT","text":"Multiple small spleens"}]} +{"alt_ids":[],"definition":"The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle.","id":"HP:0001750","name":"Single ventricle","obsolete":false,"parents":["HP:0001713"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Common ventricle"}]} +{"alt_ids":["HP:0006917","HP:0007921"],"definition":"An abnormality of the functioning of the vestibular apparatus.","id":"HP:0001751","name":"Abnormal vestibular function","obsolete":false,"parents":["HP:0011389"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Impaired vestibular function"},{"scope":"EXACT","text":"Interictal vestibular dysfunction"},{"scope":"EXACT","text":"Vestibular function defect"}]} +{"alt_ids":[],"definition":"A general descriptive term that describes impaired functioning of the vestibular apparatus that leads to manifestations such as dizziness or postural imbalance","id":"HP:0001756","name":"Vestibular hyporeflexia","obsolete":false,"parents":["HP:0001751"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vestibular deficiency"},{"scope":"EXACT","text":"Vestibular dysfunction"},{"scope":"EXACT","text":"Vestibular failure"},{"scope":"EXACT","text":"Vestibular hypofunction"},{"scope":"EXACT","text":"Vestibular loss"},{"scope":"EXACT","text":"Vestibulopathy"}]} +{"alt_ids":[],"definition":"A form of sensorineural hearing impairment that affects primarily the higher frequencies.","id":"HP:0001757","name":"High-frequency sensorineural hearing impairment","obsolete":false,"parents":["HP:0000407"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High frequency sensorineural hearing impairment"},{"scope":"EXACT","text":"High-tone sensorineural deafness"},{"scope":"EXACT","text":"High-tone sensorineural hearing impairment"}]} +{"alt_ids":["HP:0010216","HP:0010611"],"definition":"An abnormality of the skeleton of foot.","id":"HP:0001760","name":"Abnormal foot morphology","obsolete":false,"parents":["HP:0002814"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal feet structure"},{"scope":"EXACT","text":"Abnormality of the feet"},{"scope":"EXACT","text":"Abnormality of the foot"},{"scope":"EXACT","text":"Foot deformities"},{"scope":"EXACT","text":"Foot deformity"}]} +{"alt_ids":["HP:0008075"],"definition":"An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).","id":"HP:0001761","name":"Pes cavus","obsolete":false,"parents":["HP:0001760"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cavus foot"},{"scope":"EXACT","text":"High-arched foot"}]} +{"alt_ids":[],"definition":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","id":"HP:0001762","name":"Talipes equinovarus","obsolete":false,"parents":["HP:0001883"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Club feet"},{"scope":"EXACT","text":"Club foot"},{"scope":"EXACT","text":"Clubbing of feet"},{"scope":"EXACT","text":"Clubfeet"},{"scope":"EXACT","text":"Clubfoot"},{"scope":"EXACT","text":"Equinovarus"},{"scope":"NARROW","text":"Fetal foot inversion"},{"scope":"NARROW","text":"Foetal foot inversion"},{"scope":"EXACT","text":"Foot, talipes equinovarus"},{"scope":"EXACT","text":"Pes equinovarus"},{"scope":"EXACT","text":"Pes equinus"}]} +{"alt_ids":[],"definition":"A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.","id":"HP:0001763","name":"Pes planus","obsolete":false,"parents":["HP:0001760"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Dropped arches"},{"scope":"RELATED","text":"Fallen arches"},{"scope":"EXACT","text":"Flat feet"},{"scope":"EXACT","text":"Flat foot"}]} +{"alt_ids":[],"definition":"Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.","id":"HP:0001765","name":"Hammertoe","obsolete":false,"parents":["HP:0034398"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hammer toe"},{"scope":"EXACT","text":"Hammertoe"},{"scope":"EXACT","text":"Hammertoes"}]} +{"alt_ids":[],"definition":"A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.","id":"HP:0001769","name":"Broad foot","obsolete":false,"parents":["HP:0001760"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad feet"},{"scope":"EXACT","text":"Broad foot"},{"scope":"EXACT","text":"Wide foot"}]} +{"alt_ids":["HP:0001828","HP:0005677"],"definition":"Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\".","id":"HP:0001770","name":"Toe syndactyly","obsolete":false,"parents":["HP:0001159","HP:0001780"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foot syndactyly"},{"scope":"EXACT","text":"Fused toes"},{"scope":"EXACT","text":"Syndactyly of feet"},{"scope":"EXACT","text":"Syndactyly of toes"},{"scope":"EXACT","text":"Webbed toes"}]} +{"alt_ids":["HP:0004711","HP:0005031","HP:0006430"],"definition":"A contracture of the Achilles tendon.","id":"HP:0001771","name":"Achilles tendon contracture","obsolete":false,"parents":["HP:0005109","HP:0008366"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Achilles tendon contractures"},{"scope":"EXACT","text":"Contractures of the Achilles tendon"},{"scope":"EXACT","text":"Shortening of the achilles tendon"},{"scope":"EXACT","text":"Tight achilles tendon"}]} +{"alt_ids":[],"definition":"A deformity of foot and ankle in which the foot is bent down and outwards.","id":"HP:0001772","name":"Talipes equinovalgus","obsolete":false,"parents":["HP:0001883"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Equinovalgus deformity"}]} +{"alt_ids":["HP:0001764","HP:0001766","HP:0001778","HP:0008135"],"definition":"A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).","id":"HP:0001773","name":"Short foot","obsolete":false,"parents":["HP:0006494"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic feet"},{"scope":"EXACT","text":"Short feet"},{"scope":"EXACT","text":"Short foot"},{"scope":"EXACT","text":"Small feet"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001775","name":"Tarsal osteovalgus","obsolete":false,"parents":["HP:0008365","HP:5210430"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bilateral clubfoot deformity.","id":"HP:0001776","name":"Bilateral talipes equinovarus","obsolete":false,"parents":["HP:0001762"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bilateral clubfeet"},{"scope":"EXACT","text":"Bilateral clubfoot"},{"scope":"EXACT","text":"Club foot on both sides"}]} +{"alt_ids":[],"definition":"An anomaly of a toe.","id":"HP:0001780","name":"Abnormal toe morphology","obsolete":false,"parents":["HP:0001760","HP:0011297"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormalities of the toes"},{"scope":"EXACT","text":"Abnormality of toe"}]} +{"alt_ids":[],"definition":"An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous.","id":"HP:0001782","name":"Bulbous tips of toes","obsolete":false,"parents":["HP:0001780"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005907","HP:0008106"],"definition":"Increased side-to-side width of a metatarsal bone.","id":"HP:0001783","name":"Broad metatarsal","obsolete":false,"parents":["HP:0001832"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Broad metatarsals"},{"scope":"EXACT","text":"Wide long bone of foot"},{"scope":"RELATED","text":"Widened metatarsal shaft"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001785","name":"Ankle swelling","obsolete":false,"parents":["HP:0034673"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ankle swelling"}]} +{"alt_ids":[],"definition":"A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length.","id":"HP:0001786","name":"Narrow foot","obsolete":false,"parents":["HP:0001760"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrow foot"},{"scope":"EXACT","text":"Slender feet"}]} +{"alt_ids":[],"definition":"An abnormality of the birth process.","id":"HP:0001787","name":"Abnormal delivery","obsolete":false,"parents":["HP:0001197"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal delivery"},{"scope":"EXACT","text":"Delivery complication"}]} +{"alt_ids":["HP:0002163"],"definition":"Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor.","id":"HP:0001788","name":"Premature rupture of membranes","obsolete":false,"parents":["HP:0001787"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005099"],"definition":"The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.","id":"HP:0001789","name":"Hydrops fetalis","obsolete":false,"parents":["HP:0000969","HP:0034058"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens .","id":"HP:0001790","name":"Nonimmune hydrops fetalis","obsolete":false,"parents":["HP:0001789"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hydrops fetalis, non-immune"},{"scope":"EXACT","text":"Hydrops fetalis, nonimmune"},{"scope":"EXACT","text":"Non-immune fetal hydrops"},{"scope":"EXACT","text":"Non-immune foetal hydrops"},{"scope":"EXACT","text":"Nonimmune hydrops"}]} +{"alt_ids":[],"definition":"Accumulation of fluid in the peritoneal cavity during the fetal period.","id":"HP:0001791","name":"Fetal ascites","obsolete":false,"parents":["HP:0001541","HP:0034207"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foetal ascites"}]} +{"alt_ids":["HP:0001813"],"definition":"A nail that is diminished in length and width, i.e., underdeveloped nail.","id":"HP:0001792","name":"Small nail","obsolete":false,"parents":["HP:0008386"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic nail"},{"scope":"EXACT","text":"Hypoplastic nails"},{"scope":"EXACT","text":"Nail hypoplasia"},{"scope":"EXACT","text":"Small nail"},{"scope":"EXACT","text":"Small nails"}]} +{"alt_ids":["HP:0008413"],"definition":"When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity.","id":"HP:0001795","name":"Hyperconvex nail","obsolete":false,"parents":["HP:0002164"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased nail curvature"},{"scope":"EXACT","text":"Nail overcurvature"}]} +{"alt_ids":["HP:0007593","HP:0008384"],"definition":"Aplasia of the nail.","id":"HP:0001798","name":"Anonychia","obsolete":false,"parents":["HP:0008386"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent nails"},{"scope":"EXACT","text":"Aplastic nails"}]} +{"alt_ids":["HP:0200075"],"definition":"Decreased length of nail.","id":"HP:0001799","name":"Short nail","obsolete":false,"parents":["HP:0008386"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short nail"},{"scope":"EXACT","text":"Short nails"}]} +{"alt_ids":[],"definition":"Underdevelopment of the toenail.","id":"HP:0001800","name":"Hypoplastic toenails","obsolete":false,"parents":["HP:0001792","HP:0010624"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Underdeveloped toenails"}]} +{"alt_ids":[],"definition":"Congenital absence of the toenail.","id":"HP:0001802","name":"Absent toenail","obsolete":false,"parents":["HP:0001798","HP:0010624"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent toenail"},{"scope":"RELATED","text":"Absent toenails"},{"scope":"RELATED","text":"Absent toenails (anonychia)"},{"scope":"RELATED","text":"Anonychia of toenails"}]} +{"alt_ids":[],"definition":"Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.","id":"HP:0001803","name":"Nail pits","obsolete":false,"parents":["HP:0025757"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nail pits"},{"scope":"EXACT","text":"Nail pitting"},{"scope":"EXACT","text":"Pitted nails"}]} +{"alt_ids":[],"definition":"Underdevelopment of a fingernail.","id":"HP:0001804","name":"Hypoplastic fingernail","obsolete":false,"parents":["HP:0001231","HP:0001792"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small fingernail"},{"scope":"EXACT","text":"Underdeveloped fingernail"}]} +{"alt_ids":["HP:0001819","HP:0200088"],"definition":"Onychogryphosis is a disorder of nail plate growth that is clinically characterized by an opaque, yellow-brown thickening of the nail plate with associated gross hyperkeratosis, elongation, and increased curvature.","id":"HP:0001805","name":"Onychogryphosis","obsolete":false,"parents":["HP:0001597"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dystrophic thickened nails"},{"scope":"EXACT","text":"Onychogryposis"},{"scope":"EXACT","text":"Thick nail"},{"scope":"EXACT","text":"Thickened nails"}]} +{"alt_ids":[],"definition":"Detachment of the nail from the nail bed.","id":"HP:0001806","name":"Onycholysis","obsolete":false,"parents":["HP:0025756"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Detachment of nail"},{"scope":"EXACT","text":"Oncholysis"}]} +{"alt_ids":["HP:0001801","HP:0001811"],"definition":"Longitudinal, linear prominences in the nail plate.","id":"HP:0001807","name":"Ridged nail","obsolete":false,"parents":["HP:0025757"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Grooved nails"},{"scope":"EXACT","text":"Longitudinal ridging"},{"scope":"EXACT","text":"Nail ridging"},{"scope":"RELATED","text":"Ridged nails"}]} +{"alt_ids":["HP:0001796"],"definition":"Nails that easily break.","id":"HP:0001808","name":"Fragile nails","obsolete":false,"parents":["HP:0001597"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brittle nails"}]} +{"alt_ids":[],"definition":"A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature.","id":"HP:0001809","name":"Split nail","obsolete":false,"parents":["HP:0002164"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Longitudinal splitting of nail"}]} +{"alt_ids":["HP:0007558"],"definition":"Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.","id":"HP:0001810","name":"Dystrophic toenail","obsolete":false,"parents":["HP:0008388","HP:0008404"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dystrophic toenail changes"},{"scope":"RELATED","text":"Dystrophic toenails"},{"scope":"EXACT","text":"Poor toenail formation"}]} +{"alt_ids":["HP:0008380"],"definition":"When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity.","id":"HP:0001812","name":"Hyperconvex fingernails","obsolete":false,"parents":["HP:0001795"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tubular fingernails"}]} +{"alt_ids":[],"definition":"Deeply placed nails.","id":"HP:0001814","name":"Deep-set nails","obsolete":false,"parents":["HP:0002164"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deep-set nails"}]} +{"alt_ids":[],"definition":"Nail that appears thin when viewed on end.","id":"HP:0001816","name":"Thin nail","obsolete":false,"parents":["HP:0001597"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thin nail"},{"scope":"EXACT","text":"Thin nails"}]} +{"alt_ids":[],"definition":"Absence of a fingernail.","id":"HP:0001817","name":"Absent fingernail","obsolete":false,"parents":["HP:0001798"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent fingernail"},{"scope":"RELATED","text":"Anonychia of fingernails"},{"scope":"EXACT","text":"Aplasia of the fingernail"}]} +{"alt_ids":[],"definition":"The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia).","id":"HP:0001818","name":"Paronychia","obsolete":false,"parents":["HP:0100803"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"White discoloration of the nails.","id":"HP:0001820","name":"Leukonychia","obsolete":false,"parents":["HP:0100643"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"White discoloration of nails"}]} +{"alt_ids":["HP:0008406"],"definition":"Increased width of nail.","id":"HP:0001821","name":"Broad nail","obsolete":false,"parents":["HP:0002164"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad fingernails"},{"scope":"EXACT","text":"Broad nail"},{"scope":"EXACT","text":"Wide fingernails"}]} +{"alt_ids":["HP:0004682"],"definition":"Lateral deviation of the great toe (i.e., in the direction of the little toe).","id":"HP:0001822","name":"Hallux valgus","obsolete":false,"parents":["HP:0010051"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bunion"},{"scope":"EXACT","text":"Lateral deviation of great toe"},{"scope":"EXACT","text":"Lateral deviation of halluces"}]} +{"alt_ids":[],"definition":"Reduction of total body weight.","id":"HP:0001824","name":"Weight loss","obsolete":false,"parents":["HP:0004325"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Loss of weight"}]} +{"alt_ids":["HP:0001534"],"definition":"Congenital occlusion of a tube in the genital tract.","id":"HP:0001827","name":"Genital tract atresia","obsolete":false,"parents":["HP:0012243"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0009135"],"definition":"A kind of polydactyly characterized by the presence of a supernumerary toe or toes.","id":"HP:0001829","name":"Foot polydactyly","obsolete":false,"parents":["HP:0001780","HP:0009136","HP:0010442"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplication of bones of the toes"},{"scope":"EXACT","text":"Polydactyly of feet"},{"scope":"EXACT","text":"Polydactyly of the foot"}]} +{"alt_ids":["HP:0010346"],"definition":"Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.","id":"HP:0001830","name":"Postaxial foot polydactyly","obsolete":false,"parents":["HP:0001829","HP:0010322","HP:0100259"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extra toe attached near the little toe"},{"scope":"RELATED","text":"Fibular polydactyly"},{"scope":"EXACT","text":"Polydactyly affecting the 5th toe"},{"scope":"EXACT","text":"Postaxial polydactyly of feet"},{"scope":"EXACT","text":"Postaxial polydactyly of foot"},{"scope":"EXACT","text":"Posterior polydactyly of foot"}]} +{"alt_ids":["HP:0001767","HP:0001781","HP:0001855","HP:0004701","HP:0005889","HP:0008099"],"definition":"A toe that appears disproportionately short compared to the foot.","id":"HP:0001831","name":"Short toe","obsolete":false,"parents":["HP:0001991","HP:0011927"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brachydactyly of the foot"},{"scope":"EXACT","text":"Hypoplasia of the toe"},{"scope":"EXACT","text":"Hypoplastic toes"},{"scope":"EXACT","text":"Short foot phalanges"},{"scope":"EXACT","text":"Short toe"},{"scope":"EXACT","text":"Short toes"},{"scope":"EXACT","text":"Stubby toes"}]} +{"alt_ids":[],"definition":"Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).","id":"HP:0001832","name":"Abnormal metatarsal morphology","obsolete":false,"parents":["HP:0001760","HP:0040069"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the long bone of foot"}]} +{"alt_ids":["HP:0008136","HP:0008143"],"definition":"Increased back to front length of the foot.","id":"HP:0001833","name":"Long foot","obsolete":false,"parents":["HP:0001760"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disproportionately large feet"},{"scope":"EXACT","text":"Long foot"},{"scope":"EXACT","text":"large feet"},{"scope":"EXACT","text":"long feet"}]} +{"alt_ids":[],"definition":"Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.","id":"HP:0001836","name":"Camptodactyly of toe","obsolete":false,"parents":["HP:0005830","HP:0012385"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Camptodactyly of feet"}]} +{"alt_ids":[],"definition":"Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.","id":"HP:0001837","name":"Broad toe","obsolete":false,"parents":["HP:0001780"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad toe"},{"scope":"EXACT","text":"Wide toe"}]} +{"alt_ids":["HP:0001835","HP:0004693","HP:0010218"],"definition":"The presence of both a prominent heel and a convex contour of the sole.","id":"HP:0001838","name":"Rocker bottom foot","obsolete":false,"parents":["HP:0008365","HP:5210430"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital vertical talus"},{"scope":"EXACT","text":"Rocker bottom feet"},{"scope":"EXACT","text":"Rocker bottom foot"},{"scope":"EXACT","text":"Rocker-bottom feet"},{"scope":"EXACT","text":"Rockerbottom feet"}]} +{"alt_ids":["HP:0003062","HP:0005904"],"definition":"A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.","id":"HP:0001839","name":"Split foot","obsolete":false,"parents":["HP:0001760","HP:0100257"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foot ectrodactyly"},{"scope":"EXACT","text":"Lobster-claw foot deformity"},{"scope":"EXACT","text":"Split foot"},{"scope":"EXACT","text":"Split-foot"}]} +{"alt_ids":["HP:0001768","HP:0010217"],"definition":"The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.","id":"HP:0001840","name":"Metatarsus adductus","obsolete":false,"parents":["HP:0001832"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Forefoot varus"},{"scope":"EXACT","text":"Front half of foot turns inward"},{"scope":"RELATED","text":"Intoe"},{"scope":"EXACT","text":"Metatarsus adductovarsus"},{"scope":"EXACT","text":"Metatarsus varus"},{"scope":"EXACT","text":"Sickle foot"},{"scope":"EXACT","text":"Sickled feet"}]} +{"alt_ids":["HP:0009607","HP:0010050"],"definition":"Duplication of all or part of the first ray.","id":"HP:0001841","name":"Preaxial foot polydactyly","obsolete":false,"parents":["HP:0001829","HP:0001844","HP:0100258"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial/complete duplication of the phalanges of the big toe"},{"scope":"EXACT","text":"Polydactyly affecting the hallux"},{"scope":"EXACT","text":"Preaxial hallucal polydactyly"},{"scope":"EXACT","text":"Preaxial polydactyly of feet"},{"scope":"EXACT","text":"Preaxial polydactyly of foot"},{"scope":"EXACT","text":"Preaxial polydactyly of the feet"},{"scope":"EXACT","text":"Preaxial polydactyly, feet"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001842","name":"Foot acroosteolysis","obsolete":false,"parents":["HP:0010177"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acroosteolysis of feet"}]} +{"alt_ids":[],"definition":"This term applies for all abnormalities of the big toe, also called hallux.","id":"HP:0001844","name":"Abnormal hallux morphology","obsolete":false,"parents":["HP:0001780"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormalities of the hallux"},{"scope":"EXACT","text":"Abnormality of the big toe"},{"scope":"EXACT","text":"Abnormality of the hallux"}]} +{"alt_ids":[],"definition":"Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent.","id":"HP:0001845","name":"Overlapping toe","obsolete":false,"parents":["HP:0034398"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Crossover toe"},{"scope":"EXACT","text":"Overlapping toe"},{"scope":"EXACT","text":"Overlapping toes"},{"scope":"EXACT","text":"Overriding toes"}]} +{"alt_ids":["HP:0001867"],"definition":"Increased length of the big toe.","id":"HP:0001847","name":"Long hallux","obsolete":false,"parents":["HP:0001844","HP:0010511"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased length of the hallux"},{"scope":"EXACT","text":"Large halluces"},{"scope":"EXACT","text":"Long big toe"},{"scope":"EXACT","text":"Long halluces"}]} +{"alt_ids":["HP:0001774","HP:0008120"],"definition":"This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus).","id":"HP:0001848","name":"Calcaneovalgus deformity","obsolete":false,"parents":["HP:0008119","HP:0008364","HP:5210430"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Calcaneovalgus"},{"scope":"EXACT","text":"Calcaneovalgus Foot"},{"scope":"BROAD","text":"Foot and ankle bend up toward shin of leg"},{"scope":"EXACT","text":"Valgus position of the calcaneus"}]} +{"alt_ids":["HP:0001777"],"definition":"A developmental defect resulting in the presence of fewer than the normal number of toes.","id":"HP:0001849","name":"Foot oligodactyly","obsolete":false,"parents":["HP:0010760","HP:0012165"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Missing toes"},{"scope":"EXACT","text":"Oligodactyly of feet"}]} +{"alt_ids":[],"definition":"An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone.","id":"HP:0001850","name":"Abnormality of the tarsal bones","obsolete":false,"parents":["HP:0001760","HP:0040069"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal ankle bones"},{"scope":"EXACT","text":"Abnormal tarsals"}]} +{"alt_ids":[],"definition":"A widely spaced gap between the first toe (the great toe) and the second toe.","id":"HP:0001852","name":"Sandal gap","obsolete":false,"parents":["HP:0001780"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gap between 1st and 2nd toes"},{"scope":"EXACT","text":"Gap between first and second toe"},{"scope":"EXACT","text":"Increased space between first and second toes"},{"scope":"EXACT","text":"Sandal gap between first and second toes"},{"scope":"EXACT","text":"Space between great toe and second toe"},{"scope":"EXACT","text":"Wide space between 1st, 2nd toes"},{"scope":"EXACT","text":"Wide space between first and second toes"},{"scope":"EXACT","text":"Wide-spaced big toe"},{"scope":"EXACT","text":"Widely spaced 1st-2nd toes"},{"scope":"EXACT","text":"Widely spaced first and second toes"},{"scope":"EXACT","text":"Widened gap 1st-2nd toes"},{"scope":"EXACT","text":"Widened gap first and second toe"}]} +{"alt_ids":["HP:0005615"],"definition":null,"id":"HP:0001853","name":"Bifid distal phalanx of toe","obsolete":false,"parents":["HP:0009136"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bifid distal phalanges of toes"},{"scope":"EXACT","text":"Bifid terminal phalanx of toe"},{"scope":"EXACT","text":"Notched outermost bones of toes"}]} +{"alt_ids":[],"definition":"Gout affecting the Metatarsophalangeal joint of big toe.","id":"HP:0001854","name":"Podagra","obsolete":false,"parents":["HP:0001760","HP:0001997"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gout of big toe"}]} +{"alt_ids":[],"definition":"Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe.","id":"HP:0001857","name":"Short distal phalanx of toe","obsolete":false,"parents":["HP:0005035","HP:0010185"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic distal phalanges of feet"},{"scope":"EXACT","text":"Short outermost bone of toe"}]} +{"alt_ids":["HP:0010191","HP:0100236"],"definition":"Bony fusion at the distal interphalangeal joint of the second, third, fourth, or fifth toe.","id":"HP:0001859","name":"Distal toe symphalangism","obsolete":false,"parents":["HP:0010179","HP:0100263"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001862","name":"obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)","obsolete":true,"parents":[],"replaced_by":["HP:0006121"],"synonyms":[]} +{"alt_ids":[],"definition":"Bending or curvature of a toe in the tibial direction (i.e., towards the big toe).","id":"HP:0001863","name":"Toe clinodactyly","obsolete":false,"parents":["HP:0030084","HP:0100498"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Clinodactyly of feet"},{"scope":"BROAD","text":"Toe curvature"}]} +{"alt_ids":[],"definition":"Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe).","id":"HP:0001864","name":"Clinodactyly of the 5th toe","obsolete":false,"parents":["HP:0001863","HP:0010344"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Curvature of the little toe"},{"scope":"BROAD","text":"Curvature of the pinkie toe"},{"scope":"BROAD","text":"Curvature of the pinky toe"}]} +{"alt_ids":[],"definition":"The spontaneous detachment of a foot from the body due to long standing pathology.","id":"HP:0001868","name":"Autoamputation of foot","obsolete":false,"parents":["HP:0001218","HP:0001760"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot.","id":"HP:0001869","name":"Deep plantar creases","obsolete":false,"parents":["HP:0100872"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deep wrinkles in soles of feet"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001870","name":"Acroosteolysis of distal phalanges (feet)","obsolete":false,"parents":["HP:0001842","HP:0010189"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acroosteolysis of distal phalanges of feet"}]} +{"alt_ids":["HP:0003135"],"definition":"An abnormality of the hematopoietic system.","id":"HP:0001871","name":"Abnormality of blood and blood-forming tissues","obsolete":false,"parents":["HP:0000118"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of blood and blood-forming tissues"},{"scope":"EXACT","text":"Abnormality of the haematopoietic system"},{"scope":"EXACT","text":"Abnormality of the hematopoietic system"},{"scope":"EXACT","text":"Haematological abnormality"},{"scope":"RELATED","text":"Hematologic disease"},{"scope":"EXACT","text":"Hematological abnormality"}]} +{"alt_ids":["HP:0004807","HP:0005554"],"definition":"An abnormality of platelets.","id":"HP:0001872","name":"Abnormality of thrombocytes","obsolete":false,"parents":["HP:0001871"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Blood platelet disease"},{"scope":"EXACT","text":"Platelet abnormalities"},{"scope":"RELATED","text":"Thrombasthenia"}]} +{"alt_ids":["HP:0001906","HP:0004838","HP:0008175","HP:0008268","HP:0008302"],"definition":"A reduction in the number of circulating thrombocytes.","id":"HP:0001873","name":"Thrombocytopenia","obsolete":false,"parents":["HP:0011873"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low platelet count"}]} +{"alt_ids":[],"definition":"A neutrophil abnormality.","id":"HP:0001874","name":"Abnormality of neutrophils","obsolete":false,"parents":["HP:0001911"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of neutrophil"},{"scope":"EXACT","text":"Abnormality of neutrophils"},{"scope":"EXACT","text":"Abnormality of polymorphonuclear neutrophils"}]} +{"alt_ids":["HP:0005515","HP:0005533"],"definition":"Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.","id":"HP:0001875","name":"Decreased total neutrophil count","obsolete":false,"parents":["HP:0011991"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low blood neutrophil count"},{"scope":"EXACT","text":"Low neutrophil count"},{"scope":"EXACT","text":"Neutropenia"},{"scope":"EXACT","text":"Neutropoenia"},{"scope":"EXACT","text":"Peripheral neutropenia"}]} +{"alt_ids":[],"definition":"An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).","id":"HP:0001876","name":"Pancytopenia","obsolete":false,"parents":["HP:0012145"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low blood cell count"},{"scope":"EXACT","text":"Pancytopaenia"}]} +{"alt_ids":["HP:0010973"],"definition":"Any structural abnormality of erythrocytes (red-blood cells).","id":"HP:0001877","name":"Abnormal erythrocyte morphology","obsolete":false,"parents":["HP:0001871"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of erythrocytes"},{"scope":"RELATED","text":"Abnormality of erythroid lineage cell"},{"scope":"EXACT","text":"Abnormality of red blood cells"}]} +{"alt_ids":["HP:0001910","HP:0004827","HP:0004853","HP:0004868","HP:0005503"],"definition":"A type of anemia caused by premature destruction of red blood cells (hemolysis).","id":"HP:0001878","name":"Hemolytic anemia","obsolete":false,"parents":["HP:0011895"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Haemolytic anaemia"},{"scope":"EXACT","text":"Haemolytic anemia"},{"scope":"EXACT","text":"Hemolytic anaemia"},{"scope":"EXACT","text":"Increased hemolysis"}]} +{"alt_ids":[],"definition":"An abnormal count or structure of eosinophils.","id":"HP:0001879","name":"Abnormal eosinophil morphology","obsolete":false,"parents":["HP:0001911"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of eosinophils"}]} +{"alt_ids":[],"definition":"Increased count of eosinophils in the blood.","id":"HP:0001880","name":"Increased total eosinophil count","obsolete":false,"parents":["HP:0020064"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eosinophilia"},{"scope":"EXACT","text":"High blood eosinophil count"},{"scope":"EXACT","text":"Increased eosinophil count"}]} +{"alt_ids":[],"definition":"An abnormality of leukocytes.","id":"HP:0001881","name":"Abnormal leukocyte morphology","obsolete":false,"parents":["HP:0001871","HP:0010987"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of leukocytes"}]} +{"alt_ids":[],"definition":"An abnormal decreased number of leukocytes in the blood.","id":"HP:0001882","name":"Decreased total leukocyte count","obsolete":false,"parents":["HP:0011893"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased blood leukocyte number"},{"scope":"EXACT","text":"Leukopenia"},{"scope":"EXACT","text":"Low white blood cell count"}]} +{"alt_ids":[],"definition":"A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.","id":"HP:0001883","name":"Talipes","obsolete":false,"parents":["HP:0005656"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Talipes foot deformities"}]} +{"alt_ids":[],"definition":"Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an \"up and out\" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg.","id":"HP:0001884","name":"Talipes calcaneovalgus","obsolete":false,"parents":["HP:0001883"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pes calcaneovarus"}]} +{"alt_ids":[],"definition":"Underdevelopment (hypoplasia) of the second toe.","id":"HP:0001885","name":"Short 2nd toe","obsolete":false,"parents":["HP:0001831"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short second toe"}]} +{"alt_ids":[],"definition":"An infection of bone of the foot.","id":"HP:0001886","name":"Foot osteomyelitis","obsolete":false,"parents":["HP:0001760","HP:0002754"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foot bone infection"}]} +{"alt_ids":[],"definition":"A reduced number of lymphocytes in the blood.","id":"HP:0001888","name":"Decreased total lymphocyte count","obsolete":false,"parents":["HP:0040088"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absolute lymphocyte count decrease"},{"scope":"EXACT","text":"Decreased blood lymphocyte number"},{"scope":"EXACT","text":"Low lymphocyte number"},{"scope":"EXACT","text":"Lymphocytopenia"},{"scope":"EXACT","text":"Lymphopenia"}]} +{"alt_ids":["HP:0004858"],"definition":"Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).","id":"HP:0001889","name":"Megaloblastic anemia","obsolete":false,"parents":["HP:0001972"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Megaloblastic anaemia"}]} +{"alt_ids":[],"definition":"An autoimmune form of hemolytic anemia.","id":"HP:0001890","name":"Autoimmune hemolytic anemia","obsolete":false,"parents":["HP:0001878","HP:5210419"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Autoimmune haemolytic anaemia"},{"scope":"EXACT","text":"Autoimmune haemolytic anemia"},{"scope":"EXACT","text":"Autoimmune hemolytic anaemia"},{"scope":"EXACT","text":"Hemolytic anemia, autoimmune"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001891","name":"Iron deficiency anemia","obsolete":false,"parents":["HP:0001931"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ferropenic"},{"scope":"EXACT","text":"Iron deficiency anaemia"},{"scope":"EXACT","text":"Iron-deficiency anaemia"},{"scope":"EXACT","text":"Iron-deficiency anemia"}]} +{"alt_ids":["HP:0004830","HP:0004834","HP:0004849","HP:0004862","HP:0004865","HP:0008183"],"definition":"An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.","id":"HP:0001892","name":"Abnormal bleeding","obsolete":false,"parents":["HP:0001871"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bleeding diathesis"},{"scope":"EXACT","text":"Bleeding tendency"},{"scope":"EXACT","text":"Hemorrhagic diathesis"}]} +{"alt_ids":[],"definition":"Increased numbers of platelets in the peripheral blood.","id":"HP:0001894","name":"Thrombocytosis","obsolete":false,"parents":["HP:0011873"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased number of platelets in blood"},{"scope":"EXACT","text":"Increased platelet count"},{"scope":"RELATED","text":"Thrombocythaemia"},{"scope":"RELATED","text":"Thrombocythemia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001895","name":"Normochromic anemia","obsolete":false,"parents":["HP:0010972"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Normochromic anaemia"}]} +{"alt_ids":[],"definition":"A reduced number of reticulocytes in the peripheral blood.","id":"HP:0001896","name":"Reticulocytopenia","obsolete":false,"parents":["HP:0004312"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A kind of anemia in which the volume of the red blood cells is normal.","id":"HP:0001897","name":"Normocytic anemia","obsolete":false,"parents":["HP:0010972"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Normocytic anaemia"}]} +{"alt_ids":[],"definition":"The presence of an increased mass of red blood cells in the circulation.","id":"HP:0001898","name":"Increased red blood cell mass","obsolete":false,"parents":["HP:0001901"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased RBC mass"}]} +{"alt_ids":[],"definition":"An elevation above the normal ratio of the volume of red blood cells to the total volume of blood.","id":"HP:0001899","name":"Increased hematocrit","obsolete":false,"parents":["HP:0031850"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased Hct"}]} +{"alt_ids":["HP:0020063"],"definition":"Concentration of hemoglobin in the blood circulation above the upper limit of normal.","id":"HP:0001900","name":"Increased circulating hemoglobin concentration","obsolete":false,"parents":["HP:0001901","HP:0020061"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased Hb"},{"scope":"EXACT","text":"Increased Hb concentration"},{"scope":"EXACT","text":"Increased haemoglobin"},{"scope":"EXACT","text":"Increased haemoglobin concentration"},{"scope":"EXACT","text":"Increased hemoglobin"},{"scope":"EXACT","text":"Increased hemoglobin concentration"}]} +{"alt_ids":["HP:0001893"],"definition":"Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.","id":"HP:0001901","name":"Polycythemia","obsolete":false,"parents":["HP:0001877"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormally shaped erythrocytes"},{"scope":"EXACT","text":"Erythrocytosis"},{"scope":"EXACT","text":"Increased red blood cells"},{"scope":"EXACT","text":"Polyglobulia"}]} +{"alt_ids":[],"definition":"Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).","id":"HP:0001902","name":"Giant platelets","obsolete":false,"parents":["HP:0011877"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001926","HP:0003136","HP:0005509"],"definition":"A reduction in erythrocytes volume or hemoglobin concentration.","id":"HP:0001903","name":"Anemia","obsolete":false,"parents":["HP:0001877"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anaemia"},{"scope":"RELATED","text":"Decreased haemoglobin"},{"scope":"RELATED","text":"Decreased hemoglobin"},{"scope":"EXACT","text":"Low number of red blood cells or haemoglobin"},{"scope":"EXACT","text":"Low number of red blood cells or hemoglobin"}]} +{"alt_ids":[],"definition":"Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, accompanied by the detection of anti-neutrophil antibodies.","id":"HP:0001904","name":"Autoimmune neutropenia","obsolete":false,"parents":["HP:0001875","HP:5210419"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neutropenia in presence of anti-neutropil antibodies"}]} +{"alt_ids":["HP:0004869"],"definition":"Thrombocytopenia with congenital onset.","id":"HP:0001905","name":"Congenital thrombocytopenia","obsolete":false,"parents":["HP:0001873"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"thrombocytopenia, congenital"}]} +{"alt_ids":[],"definition":"The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.","id":"HP:0001907","name":"Thromboembolism","obsolete":false,"parents":["HP:0001977"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blood clot in blood vessel"},{"scope":"RELATED","text":"Embolism and thrombosis"},{"scope":"EXACT","text":"Thromboembolic disease"},{"scope":"EXACT","text":"Thromboembolic events"}]} +{"alt_ids":[],"definition":"Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia.","id":"HP:0001908","name":"Hypoplastic anemia","obsolete":false,"parents":["HP:0010972"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic anaemia"}]} +{"alt_ids":["HP:0005519","HP:0006726"],"definition":"A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.","id":"HP:0001909","name":"Leukemia","obsolete":false,"parents":["HP:0001881","HP:0004377"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Blood cancer"},{"scope":"EXACT","text":"Leukaemia"}]} +{"alt_ids":["HP:0005438"],"definition":"Any structural abnormality or abnormal count of granulocytes.","id":"HP:0001911","name":"Abnormal granulocyte morphology","obsolete":false,"parents":["HP:0010974"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of granulocytes"}]} +{"alt_ids":[],"definition":"Any structural abnormality or abnormal count of basophils.","id":"HP:0001912","name":"Abnormal basophil morphology","obsolete":false,"parents":["HP:0001911"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of basophils"}]} +{"alt_ids":[],"definition":"Abnormal decrease of absolute number of granulocytes in the blood, per microliter, compared to a reference range for a given sex and age-group.","id":"HP:0001913","name":"Decreased total granulocyte count","obsolete":false,"parents":["HP:0032309"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Granulocytopenia"}]} +{"alt_ids":[],"definition":"Aplastic anemia is defined as pancytopenia with a hypocellular marrow.","id":"HP:0001915","name":"Aplastic anemia","obsolete":false,"parents":["HP:0001876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aplastic anaemia"}]} +{"alt_ids":[],"definition":"A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856).","id":"HP:0001917","name":"Renal amyloidosis","obsolete":false,"parents":["HP:0012210","HP:0020015"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).","id":"HP:0001919","name":"Acute kidney injury","obsolete":false,"parents":["HP:0000083"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"AKI"},{"scope":"EXACT","text":"Acute kidney failure"},{"scope":"EXACT","text":"Acute renal failure"}]} +{"alt_ids":[],"definition":"The presence of stenosis of the renal artery.","id":"HP:0001920","name":"Renal artery stenosis","obsolete":false,"parents":["HP:0008776","HP:0100545"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrowing of kidney artery"}]} +{"alt_ids":["HP:0008147","HP:0008329"],"definition":"The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.","id":"HP:0001922","name":"Vacuolated lymphocytes","obsolete":false,"parents":["HP:0004332"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged lysosomal vacuoles in lymphocytes"},{"scope":"EXACT","text":"Vacuolated blood lymphocytes"}]} +{"alt_ids":[],"definition":"An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.","id":"HP:0001923","name":"Reticulocytosis","obsolete":false,"parents":["HP:0004312"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased immature red blood cells"},{"scope":"EXACT","text":"Increased number of immature red blood cells"},{"scope":"EXACT","text":"Increased reticulocyte count"},{"scope":"EXACT","text":"Increased reticulocytes"}]} +{"alt_ids":["HP:0100791"],"definition":"Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining).","id":"HP:0001924","name":"Sideroblastic anemia","obsolete":false,"parents":["HP:0010972"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypersideremic anaemia"},{"scope":"EXACT","text":"Hypersideremic anemia"},{"scope":"EXACT","text":"Sideroblastic anaemia"}]} +{"alt_ids":["HP:0005552"],"definition":"Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.","id":"HP:0001927","name":"Acanthocytosis","obsolete":false,"parents":["HP:0004447"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acanthocytes"},{"scope":"EXACT","text":"Red cell acanthocytosis"}]} +{"alt_ids":[],"definition":"An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.","id":"HP:0001928","name":"Abnormality of coagulation","obsolete":false,"parents":["HP:0001871"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal blood coagulation studies"},{"scope":"RELATED","text":"Blood coagulation disorder"},{"scope":"EXACT","text":"Coagulation abnormalities"},{"scope":"EXACT","text":"Coagulation abnormality"},{"scope":"EXACT","text":"Haemorrhagic disorders"}]} +{"alt_ids":[],"definition":"Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX.","id":"HP:0001929","name":"Reduced factor XI activity","obsolete":false,"parents":["HP:0010989"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Factor XI deficiency"},{"scope":"EXACT","text":"Low factor XI activity"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001930","name":"Nonspherocytic hemolytic anemia","obsolete":false,"parents":["HP:0001878"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nonspherocytic hemolytic anaemia"}]} +{"alt_ids":[],"definition":"A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.","id":"HP:0001931","name":"Hypochromic anemia","obsolete":false,"parents":["HP:0010972"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).","id":"HP:0001933","name":"Subcutaneous hemorrhage","obsolete":false,"parents":["HP:0001892","HP:0011276"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bleeding below the skin"},{"scope":"EXACT","text":"Subcutaneous haemorrhage"}]} +{"alt_ids":["HP:0007463"],"definition":null,"id":"HP:0001934","name":"Persistent bleeding after trauma","obsolete":false,"parents":["HP:0001892"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excessive bleeding after minor trauma"},{"scope":"EXACT","text":"Frequent bleeding with trauma"},{"scope":"EXACT","text":"Prolonged bleeding after minor trauma"}]} +{"alt_ids":[],"definition":"A kind of anemia in which the volume of the red blood cells is reduced.","id":"HP:0001935","name":"Microcytic anemia","obsolete":false,"parents":["HP:0010972"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Microcytic anaemia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001937","name":"Microangiopathic hemolytic anemia","obsolete":false,"parents":["HP:0001878"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Microangiopathic hemolytic anaemia"}]} +{"alt_ids":["HP:0002146","HP:0004355","HP:0004367"],"definition":null,"id":"HP:0001939","name":"Abnormality of metabolism/homeostasis","obsolete":false,"parents":["HP:0000118"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Laboratory abnormality"},{"scope":"EXACT","text":"Metabolism abnormality"}]} +{"alt_ids":["HP:0001940"],"definition":"Abnormal acid accumulation or depletion of base.","id":"HP:0001941","name":"Acidosis","obsolete":false,"parents":["HP:0004360"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004895","HP:0004907"],"definition":"Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.","id":"HP:0001942","name":"Metabolic acidosis","obsolete":false,"parents":["HP:0001941"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003356"],"definition":"A decreased concentration of glucose in the blood.","id":"HP:0001943","name":"Hypoglycemia","obsolete":false,"parents":["HP:0011015"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoglycaemia"},{"scope":"EXACT","text":"Low blood sugar"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001944","name":"Dehydration","obsolete":false,"parents":["HP:0011032"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dehydration"},{"scope":"EXACT","text":"Exsiccosis"}]} +{"alt_ids":[],"definition":"Body temperature elevated above the normal range.","id":"HP:0001945","name":"Fever","obsolete":false,"parents":["HP:0004370"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fever"},{"scope":"EXACT","text":"Hyperthermia"},{"scope":"EXACT","text":"Pyrexia"}]} +{"alt_ids":["HP:0003543"],"definition":"Presence of elevated levels of ketone bodies in the body.","id":"HP:0001946","name":"Ketosis","obsolete":false,"parents":["HP:0001939"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High levels of ketone bodies"},{"scope":"EXACT","text":"Hyperketosis"}]} +{"alt_ids":[],"definition":"Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.","id":"HP:0001947","name":"Renal tubular acidosis","obsolete":false,"parents":["HP:0000124","HP:0001942"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Accumulation of acid in body due to kidney problem"}]} +{"alt_ids":[],"definition":"Depletion of acid or accumulation base in the body fluids.","id":"HP:0001948","name":"Alkalosis","obsolete":false,"parents":["HP:0004360"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001949","name":"Hypokalemic alkalosis","obsolete":false,"parents":["HP:0001948"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Alkalosis due to excess loss of carbon dioxide from the body.","id":"HP:0001950","name":"Respiratory alkalosis","obsolete":false,"parents":["HP:0001948"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0001951","name":"Episodic ammonia intoxication","obsolete":false,"parents":["HP:0001987"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0000833"],"definition":"Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).","id":"HP:0001952","name":"Glucose intolerance","obsolete":false,"parents":["HP:0011014"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Abnormal glucose tolerance"},{"scope":"EXACT","text":"Glucose intolerance"}]} +{"alt_ids":["HP:0008253"],"definition":"A type of diabetic metabolic abnormality with an accumulation of ketone bodies.","id":"HP:0001953","name":"Diabetic ketoacidosis","obsolete":false,"parents":["HP:0000819","HP:0001993"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Diabetic ketosis"}]} +{"alt_ids":["HP:0004903","HP:0005962","HP:0005966","HP:0005980"],"definition":"Periodic (episodic or recurrent) bouts of fever.","id":"HP:0001954","name":"Recurrent fever","obsolete":false,"parents":["HP:0001945"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Episodic fever"},{"scope":"EXACT","text":"Hyperthermia, episodic"},{"scope":"EXACT","text":"Increased body temperature, episodic"},{"scope":"EXACT","text":"Intermittent fever"}]} +{"alt_ids":[],"definition":"Episodes of fever for which no infectious cause can be identified.","id":"HP:0001955","name":"Unexplained fevers","obsolete":false,"parents":["HP:0001945"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unexplained fevers"}]} +{"alt_ids":["HP:0008885"],"definition":"Obesity located preferentially in the trunk of the body as opposed to the extremities.","id":"HP:0001956","name":"Truncal obesity","obsolete":false,"parents":["HP:0001513"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Centripetal obesity"},{"scope":"EXACT","text":"Truncal obesity"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001958","name":"Nonketotic hypoglycemia","obsolete":false,"parents":["HP:0001943"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excessive thirst manifested by excessive fluid intake.","id":"HP:0001959","name":"Polydipsia","obsolete":false,"parents":["HP:0030082"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extreme thirst"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001960","name":"Hypokalemic metabolic alkalosis","obsolete":false,"parents":["HP:0001949","HP:0200114"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital defect characterized by underdevelopment of a ventricle of the heart.","id":"HP:0001961","name":"Hypoplastic ventricle","obsolete":false,"parents":["HP:0001627"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Underdeveloped cardiac ventricle"}]} +{"alt_ids":["HP:0001676"],"definition":"A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.","id":"HP:0001962","name":"Palpitations","obsolete":false,"parents":["HP:0011675"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Heart palpitations"},{"scope":"EXACT","text":"Missed heart beat"},{"scope":"EXACT","text":"Palpitations"},{"scope":"EXACT","text":"Skipped heart beat"}]} +{"alt_ids":[],"definition":"A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss.","id":"HP:0001963","name":"Abnormal speech discrimination","obsolete":false,"parents":["HP:0000364"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal speech discrimination"},{"scope":"EXACT","text":"Poor speech discrimination"}]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the metatarsal bones.","id":"HP:0001964","name":"Aplasia/Hypoplasia of metatarsal bones","obsolete":false,"parents":["HP:0001832","HP:0006494"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent or hypoplastic metatarsal"},{"scope":"EXACT","text":"Absent/hypoplastic metacarpals"},{"scope":"EXACT","text":"Absent/hypoplastic metatarsals"},{"scope":"EXACT","text":"Absent/small long bone of foot"},{"scope":"EXACT","text":"Absent/underdeveloped long bone of foot"},{"scope":"EXACT","text":"Aplastic/hypoplastic metatarsals"}]} +{"alt_ids":[],"definition":"Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.","id":"HP:0001965","name":"Abnormal scalp morphology","obsolete":false,"parents":["HP:0000234"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the scalp"},{"scope":"EXACT","text":"Anomaly of scalp"}]} +{"alt_ids":[],"definition":"An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries.","id":"HP:0001966","name":"Abnormal glomerular mesangium morphology","obsolete":false,"parents":["HP:0000095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality glomerular mesangium morphology"},{"scope":"EXACT","text":"Abnormality of the glomerular mesangium"},{"scope":"EXACT","text":"Mesangial abnormality"}]} +{"alt_ids":["HP:0004728"],"definition":"Thickening and scarring (sclerosis) of the mesangium (a structure in the glomerulus). The sclerosis affects a large portion of the mesangium across multiple glomeruli. Histologic features include an increase in the mesangial matrix, thickened glomerular basement membrane, tubular casts, and interstitial inflammation. Diffuse mesangial sclerosis presents with nephrotic syndrome at birth or within the first year of life. Glomeruli are small and condensed in appearance, with early lesions showing increased loose mesangial collagen that progress to sclerosis with dense collagen without hypercellularity. Podocytes do not show hyperplasia but may be immature and cobblestone-like. Electron microscopy shows extensive foot process effacement without deposits, but increased collagen within mesangial areas.","id":"HP:0001967","name":"Diffuse mesangial sclerosis","obsolete":false,"parents":["HP:0001966"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Diffuse mesangial sclerosis glomerulopathy"},{"scope":"EXACT","text":"Mesangial sclerosis"}]} +{"alt_ids":["HP:0008654"],"definition":"An abnormality that involves the tubules and interstitial tissue of the kidney.","id":"HP:0001969","name":"Abnormal tubulointerstitial morphology","obsolete":false,"parents":["HP:0000091","HP:0032581"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tubulointerstitial abnormality"},{"scope":"RELATED","text":"Tubulointerstitial nephropathy"}]} +{"alt_ids":[],"definition":"A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.","id":"HP:0001970","name":"Tubulointerstitial nephritis","obsolete":false,"parents":["HP:0001969"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Interstitial nephritis"},{"scope":"EXACT","text":"Nephritis, Tubulointerstitial"}]} +{"alt_ids":[],"definition":"A malfunctioning of the spleen in which it prematurely destroys red blood cells.","id":"HP:0001971","name":"Hypersplenism","obsolete":false,"parents":["HP:0025409"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).","id":"HP:0001972","name":"Macrocytic anemia","obsolete":false,"parents":["HP:0010972"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Macrocytic anaemia"}]} +{"alt_ids":["HP:0001936","HP:0004806","HP:0004829"],"definition":"The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.","id":"HP:0001973","name":"Autoimmune thrombocytopenia","obsolete":false,"parents":["HP:0001873","HP:5210419"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Idiopathic thrombocytopenia"},{"scope":"RELATED","text":"Idiopathic thrombocytopenic purpura"},{"scope":"EXACT","text":"Immune thrombocytopenia"}]} +{"alt_ids":[],"definition":"An abnormal increase in the number of leukocytes in the blood.","id":"HP:0001974","name":"Increased total leukocyte count","obsolete":false,"parents":["HP:0011893"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated white blood count"},{"scope":"EXACT","text":"High white blood count"},{"scope":"EXACT","text":"Increased blood leukocyte number"},{"scope":"EXACT","text":"Leukocytosis"}]} +{"alt_ids":[],"definition":"Decreased cell membrane concentration of glycoprotein IIb-IIIa.","id":"HP:0001975","name":"Decreased platelet glycoprotein IIb-IIIa","obsolete":false,"parents":["HP:0011878"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Glanzmann thrombasthenia"},{"scope":"EXACT","text":"Reduced level of platelet glycoprotein IIb/IIIa complex"}]} +{"alt_ids":[],"definition":"An abnormality of coagulation related to a decreased concentration of antithrombin-III.","id":"HP:0001976","name":"Reduced antithrombin III activity","obsolete":false,"parents":["HP:0010988","HP:0010989"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-thrombin III deficiency"},{"scope":"EXACT","text":"Antithrombin III deficiency"},{"scope":"EXACT","text":"Decreased antithrombin III"}]} +{"alt_ids":[],"definition":"Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).","id":"HP:0001977","name":"Abnormal thrombosis","obsolete":false,"parents":["HP:0001871"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal blood clot"},{"scope":"EXACT","text":"Abnormal blood clotting"}]} +{"alt_ids":["HP:0004847"],"definition":"The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.","id":"HP:0001978","name":"Extramedullary hematopoiesis","obsolete":false,"parents":["HP:0001871"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Extramedullary erythropoiesis"}]} +{"alt_ids":[],"definition":"Abnormal increased number of megaloblasts in the bone marrow.","id":"HP:0001980","name":"Megaloblastic bone marrow","obsolete":false,"parents":["HP:0012145"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood.","id":"HP:0001981","name":"Schistocytosis","obsolete":false,"parents":["HP:0004447"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Schistocytes"}]} +{"alt_ids":[],"definition":"An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa.","id":"HP:0001982","name":"Sea-blue histiocytosis","obsolete":false,"parents":["HP:0004311"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sea-blue histiocyte"}]} +{"alt_ids":[],"definition":"A reduction in the expression of CD43 on the cell surface of lymphocytes.","id":"HP:0001983","name":"Reduced lymphocyte surface expression of CD43","obsolete":false,"parents":["HP:0031383"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cd43 defectively expressed on surface of blood cells"},{"scope":"EXACT","text":"Reduced lymphocyte surface expression of sialophorin"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001984","name":"Intolerance to protein","obsolete":false,"parents":["HP:0012537"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005969"],"definition":"A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.","id":"HP:0001985","name":"Hypoketotic hypoglycemia","obsolete":false,"parents":["HP:0001943"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoglycemia, hypoketotic"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001986","name":"Hypertonic dehydration","obsolete":false,"parents":["HP:0001944"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperosmolar dehydration"}]} +{"alt_ids":["HP:0008308","HP:0008334"],"definition":"An increased concentration of ammonia in the blood.","id":"HP:0001987","name":"Hyperammonemia","obsolete":false,"parents":["HP:0002157"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High blood ammonia levels"}]} +{"alt_ids":[],"definition":"Recurrent episodes of decreased concentration of glucose in the blood.","id":"HP:0001988","name":"Recurrent hypoglycemia","obsolete":false,"parents":["HP:0001943"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoglycemic episodes"},{"scope":"EXACT","text":"Recurrent hypoglycaemia"},{"scope":"EXACT","text":"Recurrent hypoglycemic episodes"},{"scope":"EXACT","text":"Recurrent low blood sugar levels"},{"scope":"EXACT","text":"hypoglycaemia, recurrent"},{"scope":"EXACT","text":"hypoglycemia, recurrent"}]} +{"alt_ids":[],"definition":"Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).","id":"HP:0001989","name":"Fetal akinesia sequence","obsolete":false,"parents":["HP:0001558"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Early severe fetal akinesia sequence"},{"scope":"RELATED","text":"Early severe foetal akinesia sequence"},{"scope":"RELATED","text":"Fetal akinesia"},{"scope":"RELATED","text":"Foetal akinesia"},{"scope":"EXACT","text":"Foetal akinesia sequence"}]} +{"alt_ids":[],"definition":"Absence or hypoplasia of toes.","id":"HP:0001991","name":"Aplasia/Hypoplasia of toe","obsolete":false,"parents":["HP:0001780","HP:0006494"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Absent/hypoplastic toes"},{"scope":"EXACT","text":"Absent/small toe"},{"scope":"EXACT","text":"Absent/underdeveloped toe"},{"scope":"EXACT","text":"Aplastic/hypoplastic toe phalanges"}]} +{"alt_ids":[],"definition":"Excretion of non-amino organic acids in urine.","id":"HP:0001992","name":"Organic aciduria","obsolete":false,"parents":["HP:0012072"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Acidosis resulting from accumulation of ketone bodies.","id":"HP:0001993","name":"Ketoacidosis","obsolete":false,"parents":["HP:0001941","HP:0001946"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.","id":"HP:0001994","name":"Renal Fanconi syndrome","obsolete":false,"parents":["HP:0001947","HP:0011038"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"De toni-fanconi-debre syndrome"},{"scope":"EXACT","text":"Renal tubular fanconi syndrome"}]} +{"alt_ids":[],"definition":"Acidosis (pH less than 7.35) that develops with an increase in ionic chloride.","id":"HP:0001995","name":"Hyperchloremic acidosis","obsolete":false,"parents":["HP:0001941"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Longstanding metabolic acidosis.","id":"HP:0001996","name":"Chronic metabolic acidosis","obsolete":false,"parents":["HP:0001942","HP:0012468"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001368"],"definition":"Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.","id":"HP:0001997","name":"Gout","obsolete":false,"parents":["HP:0001369"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gouty arthritis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0001998","name":"Neonatal hypoglycemia","obsolete":false,"parents":["HP:0001943"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low blood sugar in newborn"}]} +{"alt_ids":["HP:0002004","HP:0002260","HP:0004643","HP:0004649","HP:0004652","HP:0004655","HP:0004675","HP:0005124"],"definition":"An abnormal morphology (form) of the face or its components.","id":"HP:0001999","name":"Abnormal facial shape","obsolete":false,"parents":["HP:0000271"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal facial shape"},{"scope":"EXACT","text":"Abnormal morphology of the face"},{"scope":"BROAD","text":"Deformity of face"},{"scope":"EXACT","text":"Distinctive facies"},{"scope":"RELATED","text":"Distortion of face"},{"scope":"EXACT","text":"Dysmorphic facial features"},{"scope":"EXACT","text":"Dysmorphic facies"},{"scope":"EXACT","text":"Facial dysmorphism"},{"scope":"RELATED","text":"Funny looking face"},{"scope":"BROAD","text":"Malformation of face"},{"scope":"EXACT","text":"Unusual facial appearance"},{"scope":"EXACT","text":"Unusual facies"}]} +{"alt_ids":[],"definition":"Reduced distance from the anterior border of the naris to the subnasale.","id":"HP:0002000","name":"Short columella","obsolete":false,"parents":["HP:0009929"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Columella, short"},{"scope":"EXACT","text":"Decreased length of columella"},{"scope":"RELATED","text":"Hypoplasia of columella"}]} +{"alt_ids":["HP:0000305","HP:0004654"],"definition":"Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.","id":"HP:0002002","name":"Deep philtrum","obsolete":false,"parents":["HP:0000288"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Depressed philtrum"},{"scope":"EXACT","text":"Increased depth of philtrum"},{"scope":"EXACT","text":"Philtrum, deep"},{"scope":"EXACT","text":"Prominent philtrum"},{"scope":"EXACT","text":"Pronounced philtrum"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002003","name":"Large forehead","obsolete":false,"parents":["HP:0000290"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Hyperplasia of forehead"},{"scope":"NARROW","text":"Hypertrophy of forehead"},{"scope":"EXACT","text":"Increased size of forehead"},{"scope":"EXACT","text":"Increased size of frontal region of face"},{"scope":"EXACT","text":"Large forehead"}]} +{"alt_ids":[],"definition":"A congenital malformation with a cleft (gap or opening) in the face.","id":"HP:0002006","name":"Tessier cleft","obsolete":false,"parents":["HP:0000271","HP:5201015"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cleft of the face"},{"scope":"EXACT","text":"Facial cleft"},{"scope":"RELATED","text":"Facial clefts"},{"scope":"EXACT","text":"Tessier facial cleft"}]} +{"alt_ids":["HP:0000254","HP:0000333","HP:0001358","HP:0001359"],"definition":"Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.","id":"HP:0002007","name":"Frontal bossing","obsolete":false,"parents":["HP:0000290","HP:0011218"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Frontal protuberance"},{"scope":"EXACT","text":"Skull bossing"}]} +{"alt_ids":[],"definition":"A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose.","id":"HP:0002009","name":"Potter facies","obsolete":false,"parents":["HP:0011334"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0002010","name":"Narrow maxilla","obsolete":false,"parents":["HP:0000326"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased breadth of upper jaw bones"},{"scope":"EXACT","text":"Decreased transverse dimension of maxilla"},{"scope":"EXACT","text":"Decreased width of maxilla"},{"scope":"EXACT","text":"Decreased width of upper jaw bones"},{"scope":"EXACT","text":"Narrow upper jaw bones"},{"scope":"EXACT","text":"Transverse hypoplasia of maxilla"},{"scope":"EXACT","text":"Transverse maxillary deficiency"},{"scope":"EXACT","text":"Transverse maxillary insufficiency"}]} +{"alt_ids":["HP:0002405","HP:0002413","HP:0002481","HP:0007319"],"definition":"A structural abnormality of the central nervous system.","id":"HP:0002011","name":"Morphological central nervous system abnormality","obsolete":false,"parents":["HP:0012639"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the central nervous system"},{"scope":"RELATED","text":"Central nervous system disease"},{"scope":"EXACT","text":"Morphological abnormality of the CNS"},{"scope":"EXACT","text":"Morphological abnormality of the central nervous system"}]} +{"alt_ids":[],"definition":"An abnormality of the viscera of the abdomen.","id":"HP:0002012","name":"Abnormality of the abdominal organs","obsolete":false,"parents":["HP:0025031"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the abdominal organs"},{"scope":"EXACT","text":"Gastrointestinal tract defects"}]} +{"alt_ids":[],"definition":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","id":"HP:0002013","name":"Vomiting","obsolete":false,"parents":["HP:0002017"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Emesis"},{"scope":"EXACT","text":"Throwing up"},{"scope":"EXACT","text":"Vomiting"}]} +{"alt_ids":[],"definition":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","id":"HP:0002014","name":"Diarrhea","obsolete":false,"parents":["HP:0011458"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Diarrhea"},{"scope":"EXACT","text":"Diarrhoea"},{"scope":"EXACT","text":"Watery stool"}]} +{"alt_ids":["HP:0002569"],"definition":"Difficulty in swallowing.","id":"HP:0002015","name":"Dysphagia","obsolete":false,"parents":["HP:0012638","HP:0025270"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Deglutition disorder"},{"scope":"EXACT","text":"Difficulty swallowing"},{"scope":"EXACT","text":"Poor swallowing"},{"scope":"EXACT","text":"Swallowing difficulties"},{"scope":"EXACT","text":"Swallowing difficulty"}]} +{"alt_ids":[],"definition":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","id":"HP:0002017","name":"Nausea and vomiting","obsolete":false,"parents":["HP:0011458"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nausea and vomiting"}]} +{"alt_ids":[],"definition":"A sensation of unease in the stomach together with an urge to vomit.","id":"HP:0002018","name":"Nausea","obsolete":false,"parents":["HP:0002017"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nausea"}]} +{"alt_ids":["HP:0002241","HP:0003786"],"definition":"Infrequent or difficult evacuation of feces.","id":"HP:0002019","name":"Constipation","obsolete":false,"parents":["HP:0011458"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Constipation"},{"scope":"EXACT","text":"Costiveness"},{"scope":"EXACT","text":"Dyschezia"}]} +{"alt_ids":["HP:0004793"],"definition":"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.","id":"HP:0002020","name":"Gastroesophageal reflux","obsolete":false,"parents":["HP:0025270"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acid reflux"},{"scope":"EXACT","text":"Acid reflux disease"},{"scope":"EXACT","text":"GERD"},{"scope":"EXACT","text":"GORD"},{"scope":"EXACT","text":"Gastro-esophageal reflux"},{"scope":"EXACT","text":"Gastro-oesophageal reflux"},{"scope":"EXACT","text":"Gastroesophageal reflux disease"},{"scope":"EXACT","text":"Heartburn"}]} +{"alt_ids":[],"definition":"Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss.","id":"HP:0002021","name":"Pyloric stenosis","obsolete":false,"parents":["HP:0004400"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Infantile hypertrophic pyloric stenosis"},{"scope":"EXACT","text":"Pylorus stenosis"}]} +{"alt_ids":["HP:0001550"],"definition":"Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.","id":"HP:0002023","name":"Anal atresia","obsolete":false,"parents":["HP:0034915"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent anus"},{"scope":"RELATED","text":"Imperforate anus"}]} +{"alt_ids":["HP:0008270"],"definition":"Impaired ability to absorb one or more nutrients from the intestine.","id":"HP:0002024","name":"Malabsorption","obsolete":false,"parents":["HP:0025032"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intestinal malabsorption"},{"scope":"EXACT","text":"Malabsorption"}]} +{"alt_ids":[],"definition":"Abnormal narrowing of the anal opening.","id":"HP:0002025","name":"Anal stenosis","obsolete":false,"parents":["HP:0034915"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrowing of anal opening"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","id":"HP:0002027","name":"Abdominal pain","obsolete":false,"parents":["HP:0011458","HP:0012531"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abdominal discomfort"},{"scope":"EXACT","text":"Abdominal pain"},{"scope":"BROAD","text":"Gastro pain"},{"scope":"BROAD","text":"Gastrointestinal pain"},{"scope":"EXACT","text":"Pain in stomach"},{"scope":"EXACT","text":"Stomach pain"},{"scope":"RELATED","text":"Upset stomach"}]} +{"alt_ids":[],"definition":"The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.","id":"HP:0002028","name":"Chronic diarrhea","obsolete":false,"parents":["HP:0002014"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic diarrhea"},{"scope":"EXACT","text":"Chronic diarrhoea"},{"scope":"RELATED","text":"Diarrhea, recurrent"},{"scope":"RELATED","text":"Recurrent diarrhea"},{"scope":"RELATED","text":"Recurrent diarrhoea"}]} +{"alt_ids":[],"definition":"A structural abnormality of the esophagus.","id":"HP:0002031","name":"Abnormal esophagus morphology","obsolete":false,"parents":["HP:0012718"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal oesophagus morphology"},{"scope":"EXACT","text":"Abnormality of esophagus structure"},{"scope":"EXACT","text":"Abnormality of oesophagus structure"},{"scope":"EXACT","text":"Anomaly of the esophagus"},{"scope":"EXACT","text":"Anomaly of the oesophagus"}]} +{"alt_ids":[],"definition":"A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach.","id":"HP:0002032","name":"Esophageal atresia","obsolete":false,"parents":["HP:0002031","HP:0002589"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Birth defect in which part of esophagus did not develop"},{"scope":"EXACT","text":"Birth defect in which part of oesophagus did not develop"}]} +{"alt_ids":[],"definition":"An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.","id":"HP:0002033","name":"Poor suck","obsolete":false,"parents":["HP:0008872"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Poor suck"},{"scope":"EXACT","text":"Poor sucking"},{"scope":"EXACT","text":"Sucking weakness"}]} +{"alt_ids":[],"definition":"An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.","id":"HP:0002034","name":"Abnormal rectum 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intestine.","id":"HP:0002037","name":"Inflammation of the large intestine","obsolete":false,"parents":["HP:0002250","HP:0004386"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inflammation of the large intestine"},{"scope":"RELATED","text":"Inflammatory bowel disease"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002038","name":"Protein avoidance","obsolete":false,"parents":["HP:0011458"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lack of desire to eat (loss of appetite).","id":"HP:0002039","name":"Anorexia","obsolete":false,"parents":["HP:0011458"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anorexia"},{"scope":"EXACT","text":"Deliberately not eating"},{"scope":"EXACT","text":"Obsessive dieting"},{"scope":"EXACT","text":"Refusing to eat"}]} +{"alt_ids":[],"definition":"Extreme dilation of the submucusoal veins in the lower portion of the esophagus.","id":"HP:0002040","name":"Esophageal varix","obsolete":false,"parents":["HP:0002031"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged vein in esophagus"},{"scope":"EXACT","text":"Enlarged vein in oesophagus"},{"scope":"RELATED","text":"Esophageal varices"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002041","name":"Intractable diarrhea","obsolete":false,"parents":["HP:0002014"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intractable diarrhoea"}]} +{"alt_ids":[],"definition":"A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.","id":"HP:0002043","name":"Esophageal stricture","obsolete":false,"parents":["HP:0010450"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrowing of esophagus due to inflammation and scar tissue"},{"scope":"EXACT","text":"Narrowing of oesophagus due to inflammation and scar tissue"}]} +{"alt_ids":[],"definition":"A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration.","id":"HP:0002044","name":"Zollinger-Ellison syndrome","obsolete":false,"parents":["HP:0007378"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced body temperature due to failed thermoregulation.","id":"HP:0002045","name":"Hypothermia","obsolete":false,"parents":["HP:0004370"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormally low body temperature"},{"scope":"EXACT","text":"Hypothermia"}]} +{"alt_ids":[],"definition":"The inability to maintain a comfortable body temperature in warm or hot weather.","id":"HP:0002046","name":"Heat intolerance","obsolete":false,"parents":["HP:0004370"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Heat intolerance"},{"scope":"EXACT","text":"Intolerance to heat and fevers"}]} +{"alt_ids":["HP:0004896"],"definition":"Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise.","id":"HP:0002047","name":"Malignant hyperthermia","obsolete":false,"parents":["HP:0004370"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Atrophy of the cortex of the kidney.","id":"HP:0002048","name":"Renal cortical atrophy","obsolete":false,"parents":["HP:0011035","HP:0012585"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia.","id":"HP:0002049","name":"Proximal renal tubular acidosis","obsolete":false,"parents":["HP:0001947"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Proximal tubular acidosis"},{"scope":"EXACT","text":"Renal tubular acidosis, proximal"},{"scope":"EXACT","text":"Renal tubular acidosis, type II"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002050","name":"Macroorchidism, postpubertal","obsolete":false,"parents":["HP:0000053"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0002054","name":"Heavy supraorbital ridges","obsolete":false,"parents":["HP:0000336"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Heavy brow of the face"},{"scope":"EXACT","text":"Heavy supraorbital ridge"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002055","name":"Curved linear dimple below the lower lip","obsolete":false,"parents":["HP:0000178"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the glabella.","id":"HP:0002056","name":"Abnormality of the glabella","obsolete":false,"parents":["HP:0000290"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the area between the eyebrows"},{"scope":"NARROW","text":"Deformity of the area between the eyebrows"},{"scope":"EXACT","text":"Glabellar abnormality"},{"scope":"NARROW","text":"Malformation of the area between the eyebrows"}]} +{"alt_ids":[],"definition":"Forward protrusion of the glabella.","id":"HP:0002057","name":"Prominent glabella","obsolete":false,"parents":["HP:0002056"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Convex glabella"},{"scope":"EXACT","text":"Hyperplasia of glabella"},{"scope":"EXACT","text":"Prominent area between the eyebrows"},{"scope":"EXACT","text":"Protruding area between the eyebrows"}]} +{"alt_ids":["HP:0004647"],"definition":"A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.","id":"HP:0002058","name":"Myopathic facies","obsolete":false,"parents":["HP:0004673"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Myopathic face"},{"scope":"EXACT","text":"Myopathic facial appearance"}]} +{"alt_ids":["HP:0002422","HP:0006890"],"definition":"Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.","id":"HP:0002059","name":"Cerebral atrophy","obsolete":false,"parents":["HP:0007369"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Degeneration of cerebrum"},{"scope":"RELATED","text":"Supratentorial atrophy"}]} +{"alt_ids":[],"definition":"Any structural abnormality of the telencephalon, which is also known as the cerebrum.","id":"HP:0002060","name":"Abnormal cerebral morphology","obsolete":false,"parents":["HP:0100547"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the cerebrum"},{"scope":"EXACT","text":"Abnormality of the telencephalon"},{"scope":"EXACT","text":"Cerebral lesion"}]} +{"alt_ids":[],"definition":"Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis.","id":"HP:0002061","name":"Lower limb spasticity","obsolete":false,"parents":["HP:0034353"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lower extremities spasticity"},{"scope":"EXACT","text":"Lower extremity spasticity"},{"scope":"EXACT","text":"Spastic lower extremities"},{"scope":"EXACT","text":"Spastic lower extremity"},{"scope":"EXACT","text":"Spastic lower limb"},{"scope":"EXACT","text":"Spastic lower limbs"},{"scope":"EXACT","text":"Spasticity in lower extremities"},{"scope":"EXACT","text":"Spasticity in lower extremity"},{"scope":"EXACT","text":"Spasticity in lower limb"},{"scope":"EXACT","text":"Spasticity in lower limbs"},{"scope":"EXACT","text":"Spasticity of lower extremities"},{"scope":"EXACT","text":"Spasticity of lower extremity"},{"scope":"EXACT","text":"Spasticity of lower limb"},{"scope":"EXACT","text":"Spasticity of lower limbs"}]} +{"alt_ids":["HP:0012445"],"definition":"Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.","id":"HP:0002062","name":"Abnormal pyramidal tract morphology","obsolete":false,"parents":["HP:0002011"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the pyramidal tracts"},{"scope":"EXACT","text":"Morphological abnormality of the pyramidal tract"},{"scope":"RELATED","text":"Pyramidal tract disease"}]} +{"alt_ids":[],"definition":"Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.","id":"HP:0002063","name":"Rigidity","obsolete":false,"parents":["HP:0001276"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle rigidity"},{"scope":"EXACT","text":"Rigidity"}]} +{"alt_ids":[],"definition":"Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.","id":"HP:0002064","name":"Spastic gait","obsolete":false,"parents":["HP:0001257","HP:0001288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spastic walk"}]} +{"alt_ids":["HP:0002379"],"definition":"A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.","id":"HP:0002066","name":"Gait ataxia","obsolete":false,"parents":["HP:0001251","HP:0001288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ataxia of gait"},{"scope":"EXACT","text":"Ataxic gait"},{"scope":"EXACT","text":"Inability to coordinate movements when walking"}]} +{"alt_ids":[],"definition":"Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).","id":"HP:0002067","name":"Bradykinesia","obsolete":false,"parents":["HP:0002071"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Slow movements"},{"scope":"EXACT","text":"Slowness of movements"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002068","name":"Neuromuscular dysphagia","obsolete":false,"parents":["HP:0002015"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001306","HP:0002407","HP:0007252"],"definition":"A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.","id":"HP:0002069","name":"Bilateral tonic-clonic seizure","obsolete":false,"parents":["HP:0001250"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bilateral convulsive seizures"},{"scope":"EXACT","text":"Generalised convulsion"},{"scope":"EXACT","text":"Generalised tonic-clonic seizure (without specification of onset)"},{"scope":"EXACT","text":"Generalized convulsion"},{"scope":"EXACT","text":"Generalized tonic-clonic seizure (without specification of onset)"},{"scope":"EXACT","text":"Grand mal"},{"scope":"EXACT","text":"Grand mal seizures"},{"scope":"EXACT","text":"Seizures, tonic-clonic"},{"scope":"EXACT","text":"Tonic-clonic convulsion"},{"scope":"EXACT","text":"Tonic-clonic convulsions"}]} +{"alt_ids":[],"definition":"A kind of ataxia that affects movements of the extremities.","id":"HP:0002070","name":"Limb ataxia","obsolete":false,"parents":["HP:0001251"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Appendicular ataxia"}]} +{"alt_ids":["HP:0006810","HP:0007113"],"definition":"A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).","id":"HP:0002071","name":"Abnormality of extrapyramidal motor function","obsolete":false,"parents":["HP:0011442"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extrapyramidal dysfunction"},{"scope":"EXACT","text":"Extrapyramidal signs"},{"scope":"EXACT","text":"Extrapyramidal symptoms"},{"scope":"EXACT","text":"Extrapyramidal syndrome"},{"scope":"EXACT","text":"Extrapyramidal tract signs"}]} +{"alt_ids":["HP:0002397"],"definition":"Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.","id":"HP:0002072","name":"Chorea","obsolete":false,"parents":["HP:0004305"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Choreatic disease"},{"scope":"EXACT","text":"Choreic movements"},{"scope":"EXACT","text":"Choreiform movements"}]} +{"alt_ids":["HP:0001329","HP:0002496","HP:0007331"],"definition":null,"id":"HP:0002073","name":"Progressive cerebellar ataxia","obsolete":false,"parents":["HP:0001251"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cerebellar ataxia, progressive"},{"scope":"EXACT","text":"Progressive ataxia"}]} +{"alt_ids":[],"definition":"Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.","id":"HP:0002074","name":"Increased neuronal autofluorescent lipopigment","obsolete":false,"parents":["HP:0011813"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Neuronal lipopigments"}]} +{"alt_ids":["HP:0002426"],"definition":"A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.","id":"HP:0002075","name":"Dysdiadochokinesis","obsolete":false,"parents":["HP:0001251"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Difficulty performing quick and alternating movements"},{"scope":"EXACT","text":"Dysdiadochokinesia"}]} +{"alt_ids":["HP:0007194"],"definition":"Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.","id":"HP:0002076","name":"Migraine","obsolete":false,"parents":["HP:0002315"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intermittent migraine headaches"},{"scope":"EXACT","text":"Migraine"},{"scope":"EXACT","text":"Migraine headache"},{"scope":"EXACT","text":"Migraine headaches"}]} +{"alt_ids":[],"definition":"A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession.","id":"HP:0002077","name":"Migraine with aura","obsolete":false,"parents":["HP:0002076"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007014"],"definition":"Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.","id":"HP:0002078","name":"Truncal ataxia","obsolete":false,"parents":["HP:0001251"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Instability or lack of coordination of central trunk muscles"},{"scope":"EXACT","text":"Trunk ataxia"}]} +{"alt_ids":["HP:0002319","HP:0007026"],"definition":"Underdevelopment of the corpus callosum.","id":"HP:0002079","name":"Hypoplasia of the corpus callosum","obsolete":false,"parents":["HP:0007370"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Corpus callosum hypoplasia"},{"scope":"EXACT","text":"Hypoplasia of corpus callosum"},{"scope":"EXACT","text":"Hypoplastic corpus callosum"},{"scope":"EXACT","text":"Underdevelopment of part of brain called corpus callosum"}]} +{"alt_ids":[],"definition":"A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).","id":"HP:0002080","name":"Intention tremor","obsolete":false,"parents":["HP:0030186"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Cerebellar tremor"},{"scope":"RELATED","text":"Terminal tremor"}]} +{"alt_ids":[],"definition":"Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia.","id":"HP:0002083","name":"Migraine without aura","obsolete":false,"parents":["HP:0002076"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002736","HP:0100664"],"definition":"A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.","id":"HP:0002084","name":"Encephalocele","obsolete":false,"parents":["HP:0011815","HP:0034237"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bifid skull"},{"scope":"EXACT","text":"Cranium bifidum"}]} +{"alt_ids":["HP:0007051","HP:0007357"],"definition":"A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.","id":"HP:0002085","name":"Occipital encephalocele","obsolete":false,"parents":["HP:0002084"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brain tissue sticks out through back of skull"},{"scope":"EXACT","text":"Occipital meningoencephalocele"},{"scope":"EXACT","text":"Posterior encephalocele"}]} +{"alt_ids":[],"definition":"An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.","id":"HP:0002086","name":"Abnormality of the respiratory system","obsolete":false,"parents":["HP:0000118"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Respiratory abnormality"}]} +{"alt_ids":[],"definition":"An abnormality of the upper respiratory tract.","id":"HP:0002087","name":"Abnormality of the upper respiratory tract","obsolete":false,"parents":["HP:0012252"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the upper respiratory tract"},{"scope":"EXACT","text":"Upper respiratory tract issues"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the lung.","id":"HP:0002088","name":"Abnormal lung morphology","obsolete":false,"parents":["HP:0012252"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of lung structure"},{"scope":"EXACT","text":"Abnormality of the lungs"},{"scope":"EXACT","text":"Abnormally shaped lung"},{"scope":"RELATED","text":"Lung disease"},{"scope":"EXACT","text":"Unusual lung shape"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002089","name":"Pulmonary hypoplasia","obsolete":false,"parents":["HP:0006703"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic lung"},{"scope":"EXACT","text":"Hypoplastic lungs"},{"scope":"EXACT","text":"Lung hypoplasia"},{"scope":"EXACT","text":"Poorly developed lungs"},{"scope":"EXACT","text":"Small lung"},{"scope":"EXACT","text":"Underdeveloped lung"}]} +{"alt_ids":[],"definition":"Inflammation of any part of the lung parenchyma.","id":"HP:0002090","name":"Pneumonia","obsolete":false,"parents":["HP:0012649","HP:5210123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pneumonia"}]} +{"alt_ids":["HP:0002111"],"definition":"A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.","id":"HP:0002091","name":"Restrictive ventilatory defect","obsolete":false,"parents":["HP:0030878"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Restrictive deficit on pulmonary function testing"},{"scope":"EXACT","text":"Restrictive deficit on pulmonary function tests"},{"scope":"RELATED","text":"Restrictive lung disease"},{"scope":"EXACT","text":"Restrictive respiratory disease"},{"scope":"EXACT","text":"Restrictive respiratory insufficiency"},{"scope":"EXACT","text":"Restrictive respiratory syndrome"},{"scope":"EXACT","text":"Spirometric restriction"},{"scope":"EXACT","text":"Stiff lung or chest wall causing decreased lung volume"}]} +{"alt_ids":["HP:0006546"],"definition":"Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.","id":"HP:0002092","name":"Pulmonary arterial hypertension","obsolete":false,"parents":["HP:0033578"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased blood pressure in blood vessels of lungs"},{"scope":"RELATED","text":"Primary pulmonary hypertension"},{"scope":"EXACT","text":"Pulmonary artery hypertension"}]} +{"alt_ids":["HP:0004893","HP:0005937","HP:0006542"],"definition":null,"id":"HP:0002093","name":"Respiratory insufficiency","obsolete":false,"parents":["HP:0002795"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Respiratory function loss"},{"scope":"EXACT","text":"Respiratory impairment"}]} +{"alt_ids":[],"definition":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","id":"HP:0002094","name":"Dyspnea","obsolete":false,"parents":["HP:0002793"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal breathing"},{"scope":"EXACT","text":"Breathing difficulty"},{"scope":"EXACT","text":"Difficult to breathe"},{"scope":"EXACT","text":"Difficulty breathing"},{"scope":"EXACT","text":"Dyspnoea"},{"scope":"RELATED","text":"Panting"},{"scope":"EXACT","text":"Shortness of breath"},{"scope":"EXACT","text":"Trouble breathing"}]} +{"alt_ids":["HP:0006534"],"definition":null,"id":"HP:0002097","name":"Emphysema","obsolete":false,"parents":["HP:0002088"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pulmonary emphysema"}]} +{"alt_ids":["HP:0002880"],"definition":"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.","id":"HP:0002098","name":"Respiratory distress","obsolete":false,"parents":["HP:0002094"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Breathing difficulties"},{"scope":"EXACT","text":"Labored breathing"},{"scope":"EXACT","text":"Laboured breathing"}]} +{"alt_ids":["HP:0002112"],"definition":"Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.","id":"HP:0002099","name":"Asthma","obsolete":false,"parents":["HP:0002795","HP:0100326"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Asthma"},{"scope":"EXACT","text":"Bronchial asthma"},{"scope":"RELATED","text":"Reactive airway disease"}]} +{"alt_ids":["HP:0002106"],"definition":"Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.","id":"HP:0002100","name":"Recurrent aspiration pneumonia","obsolete":false,"parents":["HP:0011951"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent pneumonia due to aspiration"}]} +{"alt_ids":["HP:0006525","HP:0009753"],"definition":"A developmental defect in the formation of pulmonary lobes.","id":"HP:0002101","name":"Abnormal lung lobation","obsolete":false,"parents":["HP:4000059"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal pulmonary lobation"},{"scope":"EXACT","text":"Defective lung lobation"},{"scope":"EXACT","text":"Lung segmentation defects"}]} +{"alt_ids":[],"definition":"Inflammation of the pleura.","id":"HP:0002102","name":"Pleuritis","obsolete":false,"parents":["HP:0002103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inflammation of tissues lining lungs and chest"},{"scope":"EXACT","text":"Pleurisy"}]} +{"alt_ids":[],"definition":"An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.","id":"HP:0002103","name":"Abnormal pleura morphology","obsolete":false,"parents":["HP:0002088"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the pleura"}]} +{"alt_ids":["HP:0005936","HP:0005958"],"definition":"Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.","id":"HP:0002104","name":"Apnea","obsolete":false,"parents":["HP:0002793"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of spontaneous respiration"},{"scope":"EXACT","text":"Apneic episodes"},{"scope":"EXACT","text":"Apnoea"}]} +{"alt_ids":[],"definition":"Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.","id":"HP:0002105","name":"Hemoptysis","obsolete":false,"parents":["HP:0032016"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Coughing up blood"},{"scope":"RELATED","text":"Coughing up blood or blood-stained mucus"},{"scope":"EXACT","text":"Haemoptysis"}]} +{"alt_ids":[],"definition":"Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung.","id":"HP:0002107","name":"Pneumothorax","obsolete":false,"parents":["HP:0002103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Collapsed lung"}]} +{"alt_ids":[],"definition":"Pneumothorax occurring without traumatic injury to the chest or lung.","id":"HP:0002108","name":"Spontaneous pneumothorax","obsolete":false,"parents":["HP:0002107"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spontaneous collapsed lung"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002109","name":"obsolete Abnormality of the bronchi","obsolete":true,"parents":[],"replaced_by":["HP:0025426"],"synonyms":[]} +{"alt_ids":[],"definition":"Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.","id":"HP:0002110","name":"Bronchiectasis","obsolete":false,"parents":["HP:0025426"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Permanent enlargement of the airways of the lungs"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002111","name":"obsolete Restrictive deficit on pulmonary function testing","obsolete":true,"parents":[],"replaced_by":["HP:0002091"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0002113","name":"Pulmonary infiltrates","obsolete":false,"parents":["HP:0031983"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lung infiltrates"},{"scope":"EXACT","text":"Pulmonic infiltration"}]} +{"alt_ids":[],"definition":"Any structural abnormality of the cerebral ventricles.","id":"HP:0002118","name":"Abnormal cerebral ventricle morphology","obsolete":false,"parents":["HP:0012443"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the cerebral ventricles"}]} +{"alt_ids":["HP:0002447","HP:0005691","HP:0007071"],"definition":"An increase in size of the ventricular system of the brain.","id":"HP:0002119","name":"Ventriculomegaly","obsolete":false,"parents":["HP:0002118"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cerebral ventricular dilatation"},{"scope":"EXACT","text":"Dilated cerebral ventricle"},{"scope":"EXACT","text":"Dilated cerebral ventricles"},{"scope":"EXACT","text":"Dilated ventricles"},{"scope":"EXACT","text":"Enlarged cerebral ventricles"},{"scope":"EXACT","text":"Enlarged ventricles"},{"scope":"EXACT","text":"Enlarged ventricular system"},{"scope":"EXACT","text":"Large cerebral ventricles and cisternae"},{"scope":"EXACT","text":"Ventricular dilatation"}]} +{"alt_ids":["HP:0006823","HP:0006835"],"definition":"Atrophy of the cortex of the cerebrum.","id":"HP:0002120","name":"Cerebral cortical atrophy","obsolete":false,"parents":["HP:0002059","HP:0002538"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cerebral cortex atrophy"},{"scope":"EXACT","text":"Cortical atrophy"},{"scope":"EXACT","text":"Decrease in size of the outer layer of the brain due to loss of brain cells"}]} +{"alt_ids":["HP:0007143","HP:0011148"],"definition":"A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.","id":"HP:0002121","name":"Generalized non-motor (absence) seizure","obsolete":false,"parents":["HP:0002197","HP:0011146","HP:0033259"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence seizure"},{"scope":"EXACT","text":"Absence seizures"},{"scope":"EXACT","text":"Brief seizures with staring spells"},{"scope":"EXACT","text":"Generalised non-motor (absence) seizure"},{"scope":"EXACT","text":"Generalised non-motor seizure"},{"scope":"EXACT","text":"Petit mal"},{"scope":"EXACT","text":"Petit mal seizure"},{"scope":"EXACT","text":"Petit mal seizures"}]} +{"alt_ids":["HP:0006869","HP:0006902","HP:0007075","HP:0007202","HP:0007284","HP:0007294"],"definition":"A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.","id":"HP:0002123","name":"Generalized myoclonic seizure","obsolete":false,"parents":["HP:0032677","HP:0032794"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised epileptic myoclonus"},{"scope":"EXACT","text":"Generalised myoclonic seizure"},{"scope":"EXACT","text":"Generalised myoclonic seizures"},{"scope":"EXACT","text":"Generalized epileptic myoclonus"},{"scope":"EXACT","text":"Generalized myoclonic seizures"},{"scope":"RELATED","text":"Myoclonic epilepsy, progressive"},{"scope":"EXACT","text":"Myoclonus seizures"}]} +{"alt_ids":[],"definition":"Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).","id":"HP:0002126","name":"Polymicrogyria","obsolete":false,"parents":["HP:0002536"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"More grooves in brain"}]} +{"alt_ids":[],"definition":"Any structural anomaly that affects the upper motor neuron.","id":"HP:0002127","name":"Abnormal upper motor neuron morphology","obsolete":false,"parents":["HP:0002450"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of upper motor neuron"}]} +{"alt_ids":["HP:0006862","HP:0007152","HP:0007214"],"definition":"Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.","id":"HP:0002131","name":"Episodic ataxia","obsolete":false,"parents":["HP:0001251"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intermittent cerebellar ataxia"},{"scope":"EXACT","text":"Paroxysmal ataxia"}]} +{"alt_ids":[],"definition":"A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.","id":"HP:0002132","name":"Porencephalic cyst","obsolete":false,"parents":["HP:0002060"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cavity within brain"}]} +{"alt_ids":[],"definition":"Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.","id":"HP:0002133","name":"Status epilepticus","obsolete":false,"parents":["HP:0001250"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prolonged seizure"},{"scope":"EXACT","text":"Repeated seizure without recovery"},{"scope":"EXACT","text":"Repeated seizures without recovery between them"}]} +{"alt_ids":["HP:0006952","HP:0007257"],"definition":"Abnormality of the basal ganglia.","id":"HP:0002134","name":"Abnormal basal ganglia morphology","obsolete":false,"parents":["HP:0010993"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the basal ganglia"},{"scope":"EXACT","text":"Anomaly of the basal ganglia"},{"scope":"EXACT","text":"Basal ganglia disease"}]} +{"alt_ids":["HP:0002485"],"definition":"The presence of calcium deposition affecting one or more structures of the basal ganglia.","id":"HP:0002135","name":"Basal ganglia calcification","obsolete":false,"parents":["HP:0002134","HP:0002514"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Basal ganglia calcifications"},{"scope":"EXACT","text":"Basal ganglion calcification"},{"scope":"EXACT","text":"Calcification of the basal ganglia"}]} +{"alt_ids":[],"definition":"An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.","id":"HP:0002136","name":"Broad-based gait","obsolete":false,"parents":["HP:0001288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad based gait"},{"scope":"EXACT","text":"Wide based gait"},{"scope":"EXACT","text":"Wide based walk"},{"scope":"EXACT","text":"Wide-based gait"}]} +{"alt_ids":[],"definition":"Hemorrhage occurring between the arachnoid mater and the pia mater.","id":"HP:0002138","name":"Subarachnoid hemorrhage","obsolete":false,"parents":["HP:0002170","HP:0012703"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A defect of development of the brain characterized by congenital absence of the part of the brain that includes the olfactory bulbs, tracts, and other structures associated with the sense of smell.","id":"HP:0002139","name":"Arrhinencephaly","obsolete":false,"parents":["HP:0100547"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Arhinencephaly"}]} +{"alt_ids":[],"definition":"Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured.","id":"HP:0002140","name":"Ischemic stroke","obsolete":false,"parents":["HP:0001297","HP:0002637","HP:0025722"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ischaemic stroke"}]} +{"alt_ids":["HP:0100683"],"definition":null,"id":"HP:0002141","name":"Gait imbalance","obsolete":false,"parents":["HP:0001288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of balance"},{"scope":"EXACT","text":"Abnormality of equilibrium"},{"scope":"EXACT","text":"Imbalanced walk"}]} +{"alt_ids":[],"definition":"A structural abnormality of the spinal cord (myelon).","id":"HP:0002143","name":"Abnormal spinal cord morphology","obsolete":false,"parents":["HP:0002011"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the spinal cord"},{"scope":"RELATED","text":"Spinal cord disease"},{"scope":"RELATED","text":"Spinal cord pathology"}]} +{"alt_ids":[],"definition":"During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord.","id":"HP:0002144","name":"Tethered cord","obsolete":false,"parents":["HP:0031938"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Occult spinal dysraphism"}]} +{"alt_ids":[],"definition":"A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.","id":"HP:0002145","name":"Frontotemporal dementia","obsolete":false,"parents":["HP:0000726"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008285"],"definition":"The concentration of phosphate ion in the blood circulation is below the lower limit of normal.","id":"HP:0002148","name":"Hypophosphatemia","obsolete":false,"parents":["HP:0100529"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased phosphate ion concentration"},{"scope":"EXACT","text":"Decreased phosphate ion level"},{"scope":"EXACT","text":"Decreased phosphate ion level in blood"},{"scope":"EXACT","text":"Hypophosphataemia"},{"scope":"EXACT","text":"Low blood phosphate level"},{"scope":"EXACT","text":"Reduced phosphate ion concentration"},{"scope":"EXACT","text":"Reduced phosphate ion level"},{"scope":"EXACT","text":"Reduced phosphate ion level in blood"}]} +{"alt_ids":[],"definition":"The concentration of uric acid in the blood circulation is above the upper limit of normal.","id":"HP:0002149","name":"Hyperuricemia","obsolete":false,"parents":["HP:0002157","HP:0010932"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated uric acid concentration"},{"scope":"EXACT","text":"Elevated uric acid level"},{"scope":"EXACT","text":"Elevated uric acid level in blood"},{"scope":"EXACT","text":"High blood uric acid level"},{"scope":"EXACT","text":"Hyperuricaemia"},{"scope":"EXACT","text":"Increased uric acid concentration"},{"scope":"EXACT","text":"Increased uric acid level"},{"scope":"EXACT","text":"Increased uric acid level in blood"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002150","name":"Hypercalciuria","obsolete":false,"parents":["HP:0011280"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urine calcium levels"},{"scope":"EXACT","text":"Hypercalcinuria"}]} +{"alt_ids":["HP:0003638"],"definition":"Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).","id":"HP:0002151","name":"Increased circulating lactate concentration","obsolete":false,"parents":["HP:0001941"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Higher than normal levels of lactate in blood"},{"scope":"EXACT","text":"Increased blood lactate"},{"scope":"EXACT","text":"Increased serum lactate"}]} +{"alt_ids":[],"definition":"An increased concentration of proteins in the blood.","id":"HP:0002152","name":"Hyperproteinemia","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of potassium(1+) in the blood circulation is above the upper limit of normal.","id":"HP:0002153","name":"Hyperkalemia","obsolete":false,"parents":["HP:0011042"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated potassium(1+) concentration"},{"scope":"EXACT","text":"Elevated potassium(1+) level"},{"scope":"EXACT","text":"Elevated potassium(1+) level in blood"},{"scope":"EXACT","text":"Increased circulating potassium concentration"},{"scope":"EXACT","text":"Increased potassium(1+) concentration"},{"scope":"EXACT","text":"Increased potassium(1+) level"},{"scope":"EXACT","text":"Increased potassium(1+) level in blood"}]} +{"alt_ids":[],"definition":"An elevated concentration of glycine in the blood.","id":"HP:0002154","name":"Hyperglycinemia","obsolete":false,"parents":["HP:0010895"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated blood glycine levels"},{"scope":"EXACT","text":"Hyperglycinaemia"}]} +{"alt_ids":["HP:0003082","HP:0008174","HP:0008332"],"definition":"The concentration of triglyceride in the blood circulation is above the upper limit of normal.","id":"HP:0002155","name":"Hypertriglyceridemia","obsolete":false,"parents":["HP:0003077"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated triglyceride concentration"},{"scope":"EXACT","text":"Elevated triglyceride level"},{"scope":"EXACT","text":"Elevated triglyceride level in blood"},{"scope":"EXACT","text":"Increased circulating Tg levels"},{"scope":"EXACT","text":"Increased plasma Tg levels"},{"scope":"EXACT","text":"Increased plasma triglycerides"},{"scope":"EXACT","text":"Increased serum triglycerides"},{"scope":"EXACT","text":"Increased triglyceride concentration"},{"scope":"EXACT","text":"Increased triglyceride level"},{"scope":"EXACT","text":"Increased triglyceride level in blood"},{"scope":"EXACT","text":"Increased triglycerides"}]} +{"alt_ids":[],"definition":"An increased concentration of homocystine in the urine.","id":"HP:0002156","name":"Homocystinuria","obsolete":false,"parents":["HP:0033095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High urine homocystine levels"}]} +{"alt_ids":[],"definition":"An increased concentration of nitrogen compounds in the blood.","id":"HP:0002157","name":"Azotemia","obsolete":false,"parents":["HP:0004364"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Azotaemia"}]} +{"alt_ids":[],"definition":"An increased concentration of heparan sulfates in the urine.","id":"HP:0002159","name":"Heparan sulfate excretion in urine","obsolete":false,"parents":["HP:0008155"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Heparan sulphate excretion in urine"}]} +{"alt_ids":[],"definition":"The concentration of homocystine in the blood circulation is above the upper limit of normal.","id":"HP:0002160","name":"Hyperhomocystinemia","obsolete":false,"parents":["HP:0010919"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated blood homocystine"},{"scope":"EXACT","text":"Elevated homocystine concentration"},{"scope":"EXACT","text":"Elevated homocystine level"},{"scope":"EXACT","text":"Elevated homocystine level in blood"},{"scope":"EXACT","text":"Homocystinemia"},{"scope":"EXACT","text":"Increased homocystine concentration"},{"scope":"EXACT","text":"Increased homocystine level"},{"scope":"EXACT","text":"Increased homocystine level in blood"}]} +{"alt_ids":[],"definition":"The concentration of lysine in the blood circulation is above the upper limit of normal.","id":"HP:0002161","name":"Hyperlysinemia","obsolete":false,"parents":["HP:0010908"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated blood lysine"},{"scope":"EXACT","text":"Elevated lysine concentration"},{"scope":"EXACT","text":"Elevated lysine level"},{"scope":"EXACT","text":"Elevated lysine level in blood"},{"scope":"EXACT","text":"Increased lysine concentration"},{"scope":"EXACT","text":"Increased lysine level"},{"scope":"EXACT","text":"Increased lysine level in blood"}]} +{"alt_ids":[],"definition":"Hair on the neck extends more inferiorly than usual.","id":"HP:0002162","name":"Low posterior hairline","obsolete":false,"parents":["HP:0025668","HP:0030141"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low hairline at back of neck"},{"scope":"EXACT","text":"Low posterior hair line"}]} +{"alt_ids":["HP:0001793","HP:0001794","HP:0001797","HP:0008387","HP:0008403","HP:0008409","HP:0008412"],"definition":"The presence of developmental dysplasia of the nail.","id":"HP:0002164","name":"Nail dysplasia","obsolete":false,"parents":["HP:0001597"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atypical nail growth"},{"scope":"EXACT","text":"Dysplastic nails"},{"scope":"EXACT","text":"Onychodysplasia"}]} +{"alt_ids":[],"definition":"Inward advance of skin over the nail plate.","id":"HP:0002165","name":"Nail pterygium","obsolete":false,"parents":["HP:0025756"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pterygium of nails"}]} +{"alt_ids":[],"definition":"A decrease in the ability to perceive vibration in the legs.","id":"HP:0002166","name":"Impaired vibration sensation in the lower limbs","obsolete":false,"parents":["HP:0002495"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased lower limb vibratory sense"},{"scope":"EXACT","text":"Decreased vibratory sense in lower limbs"},{"scope":"EXACT","text":"Decreased vibratory sense in the lower extremities"},{"scope":"EXACT","text":"Decreased vibratory sense in the lower limbs"},{"scope":"EXACT","text":"Diminished vibratory sensation in the legs"},{"scope":"EXACT","text":"Distal sensory loss, especially vibratory sense"},{"scope":"EXACT","text":"Distal vibratory impairment of the lower limbs"},{"scope":"EXACT","text":"Impaired vibration sensation in the lower limbs"}]} +{"alt_ids":[],"definition":"An abnormality in the sound (volume) or cadence (rate) of speech.","id":"HP:0002167","name":"Abnormal speech pattern","obsolete":false,"parents":["HP:4000072"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal speech"},{"scope":"EXACT","text":"Abnormal vocalisation"},{"scope":"EXACT","text":"Abnormal vocalization"},{"scope":"EXACT","text":"Abnormality of speech or vocalization"}]} +{"alt_ids":[],"definition":"An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly.","id":"HP:0002168","name":"Scanning speech","obsolete":false,"parents":["HP:0002167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Explosive speech"}]} +{"alt_ids":[],"definition":"A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.","id":"HP:0002169","name":"Clonus","obsolete":false,"parents":["HP:0001347","HP:0004305"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Involuntary rhythmic muscular contractions and relaxations"}]} +{"alt_ids":[],"definition":"Hemorrhage occurring within the skull.","id":"HP:0002170","name":"Intracranial hemorrhage","obsolete":false,"parents":["HP:0011029","HP:0100659"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bleeding within the skull"},{"scope":"EXACT","text":"Intracranial haemorrhage"}]} +{"alt_ids":[],"definition":"Gliosis is the focal proliferation of glial cells in the central nervous system.","id":"HP:0002171","name":"Gliosis","obsolete":false,"parents":["HP:0100705"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cerebral gliosis"},{"scope":"EXACT","text":"Excess astrocytes in brain"}]} +{"alt_ids":[],"definition":"A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.","id":"HP:0002172","name":"Postural instability","obsolete":false,"parents":["HP:0100022"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormal retropulsion test"},{"scope":"EXACT","text":"Balance impairment"},{"scope":"RELATED","text":"Imbalance"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002173","name":"Hypoglycemic seizures","obsolete":false,"parents":["HP:0001943","HP:0011145"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006925","HP:0007197"],"definition":"A type of tremors that is triggered by holding a limb in a fixed position.","id":"HP:0002174","name":"Postural tremor","obsolete":false,"parents":["HP:0002345"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Tremor, postural"}]} +{"alt_ids":[],"definition":"External mechanical compression of the spinal cord.","id":"HP:0002176","name":"Spinal cord compression","obsolete":false,"parents":["HP:0002143"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pressure on spinal cord"}]} +{"alt_ids":[],"definition":"Opisthotonus is defined as a dramatic abnormal posture due to spastic contraction of the extensor muscles of the neck, trunk, and lower extremities that produces a severe backward arching from neck to heel. In most cases, the trunk is elevated off the ground by a few inches. It is usually sudden in onset and can be sustained or repetitive. It can be considered a variant of decerebrate posturing involving a hyperextension of the neck, back, and limbs.","id":"HP:0002179","name":"Opisthotonus","obsolete":false,"parents":["HP:0001257"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Arc de cercle"},{"scope":"EXACT","text":"Opisthotonos"}]} +{"alt_ids":[],"definition":"Progressive loss of neural cells and tissue.","id":"HP:0002180","name":"Neurodegeneration","obsolete":false,"parents":["HP:0007367"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Neuro-degenerative disease"},{"scope":"RELATED","text":"Neurodegenerative disease"},{"scope":"EXACT","text":"Ongoing loss of nerve cells"},{"scope":"RELATED","text":"Progressive neurodegenerative disorder"}]} +{"alt_ids":[],"definition":"Abnormal accumulation of fluid in the brain.","id":"HP:0002181","name":"Cerebral edema","obsolete":false,"parents":["HP:0000969","HP:0002060"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brain edema"},{"scope":"EXACT","text":"Brain oedema"},{"scope":"BROAD","text":"Brain swelling"},{"scope":"EXACT","text":"Cerebral oedema"},{"scope":"EXACT","text":"Swelling of brain"}]} +{"alt_ids":[],"definition":"An abnormally heightened sensitivity to loud sounds.","id":"HP:0002183","name":"Phonophobia","obsolete":false,"parents":["HP:5200060"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fear of loud sounds"}]} +{"alt_ids":["HP:0003132","HP:0007070"],"definition":"Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.","id":"HP:0002185","name":"Neurofibrillary tangles","obsolete":false,"parents":["HP:0100314"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"NFTs"},{"scope":"EXACT","text":"Neurofibrillary tangles composed of disordered microtubules in neurons"},{"scope":"EXACT","text":"Paired helical filaments"},{"scope":"EXACT","text":"Tau-positive neurofibrillary tangles"},{"scope":"EXACT","text":"Tau-positive tangle"}]} +{"alt_ids":[],"definition":"A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.","id":"HP:0002186","name":"Apraxia","obsolete":false,"parents":["HP:0011442"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Apraxias"}]} +{"alt_ids":[],"definition":"Profound intellectual disability (ID) is defined as a type of ID characterized by profoundly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) below 20.","id":"HP:0002187","name":"Profound intellectual disability","obsolete":false,"parents":["HP:0001249"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"IQ less than 20"},{"scope":"EXACT","text":"Intellectual disability, profound"},{"scope":"EXACT","text":"Mental retardation, profound"},{"scope":"EXACT","text":"Profound mental retardation"}]} +{"alt_ids":["HP:0005770","HP:0006974","HP:0007300"],"definition":"Delayed myelination in the central nervous system.","id":"HP:0002188","name":"Delayed CNS myelination","obsolete":false,"parents":["HP:0011400","HP:0012448"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delay in central nervous system myelination"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002189","name":"obsolete Excessive daytime sleepiness","obsolete":true,"parents":[],"replaced_by":["HP:0001262"],"synonyms":[]} +{"alt_ids":[],"definition":"A cyst occurring within the choroid plexus within a cerebral ventricle.","id":"HP:0002190","name":"Choroid plexus cyst","obsolete":false,"parents":["HP:0007376"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Spasticity that increases in degree with time.","id":"HP:0002191","name":"Progressive spasticity","obsolete":false,"parents":["HP:0001257"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spasticity, progressive"}]} +{"alt_ids":[],"definition":"Pseudobulbar affect (PBA) is characterized by uncontrolled crying or laughing which may be disproportionate or inappropriate to the social context. Thus, there is a disparity between the patient's emotional expression and his or her emotional experience.","id":"HP:0002193","name":"Pseudobulbar affect","obsolete":false,"parents":["HP:0000708","HP:0002200"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pseudobulbar behavioral symptoms"},{"scope":"EXACT","text":"Pseudobulbar behavioural symptoms"}]} +{"alt_ids":["HP:0006905","HP:0007046","HP:0008973"],"definition":"A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.","id":"HP:0002194","name":"Delayed gross motor development","obsolete":false,"parents":["HP:0001270"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delayed attainment of gross motor milestones"},{"scope":"EXACT","text":"Delayed attainment of gross motor skills"},{"scope":"EXACT","text":"Delayed development of gross motor milestones"},{"scope":"EXACT","text":"Delayed development of gross motor skills"},{"scope":"EXACT","text":"Delayed gross motor milestones"},{"scope":"EXACT","text":"Delayed gross motor skills"},{"scope":"EXACT","text":"Delayed motor skills"},{"scope":"EXACT","text":"Developmental delay, gross motor"},{"scope":"EXACT","text":"Gross motor delay"},{"scope":"EXACT","text":"Limited gross motor development"},{"scope":"EXACT","text":"Limited gross motor skills"}]} +{"alt_ids":[],"definition":"Defective development of the vermis of cerebellum.","id":"HP:0002195","name":"Dysgenesis of the cerebellar vermis","obsolete":false,"parents":["HP:0002334"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Myelopathy is an descriptive term, referring to pathology leading to a neurologic deficit related to the spinal cord. The clinical diagnosis of myelopathy requires a detailed history and physical examination to define the clinical syndrome. Neuroimaging is indicated in most instances of new-onset myelopathy. It is indicated also when the worsening of a myelopathy is unexplained.","id":"HP:0002196","name":"Myelopathy","obsolete":false,"parents":["HP:0002143","HP:0034238"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002409","HP:0007114","HP:0007339"],"definition":"A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.","id":"HP:0002197","name":"Generalized-onset seizure","obsolete":false,"parents":["HP:0001250"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised onset seizure"},{"scope":"EXACT","text":"Generalised seizures"},{"scope":"EXACT","text":"Generalised-onset seizure"},{"scope":"EXACT","text":"Generalized onset seizure"},{"scope":"EXACT","text":"Generalized seizures"},{"scope":"EXACT","text":"Generalized-onset seizures"},{"scope":"EXACT","text":"Primary generalised seizure"},{"scope":"EXACT","text":"Primary generalized seizure"}]} +{"alt_ids":["HP:0007223"],"definition":"An abnormal dilatation of the fourth cerebral ventricle.","id":"HP:0002198","name":"Dilated fourth ventricle","obsolete":false,"parents":["HP:0002119","HP:0010950"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged fourth ventricle"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002199","name":"Hypocalcemic seizures","obsolete":false,"parents":["HP:0011145"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low calcium seizures"},{"scope":"EXACT","text":"Seizures due to hypocalcemia"}]} +{"alt_ids":[],"definition":"Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.","id":"HP:0002200","name":"Pseudobulbar signs","obsolete":false,"parents":["HP:0012638"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pseudobulbar symptoms"}]} +{"alt_ids":[],"definition":"The presence of an excessive amount of fluid in the pleural cavity.","id":"HP:0002202","name":"Pleural effusion","obsolete":false,"parents":["HP:0000969","HP:0002103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fluid around lungs"}]} +{"alt_ids":[],"definition":"Inability to move the muscles of respiration.","id":"HP:0002203","name":"Respiratory paralysis","obsolete":false,"parents":["HP:0003470","HP:0004347"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.","id":"HP:0002204","name":"Pulmonary embolism","obsolete":false,"parents":["HP:0030875"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blood clot in artery of lung"}]} +{"alt_ids":["HP:0002782","HP:0002873"],"definition":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","id":"HP:0002205","name":"Recurrent respiratory infections","obsolete":false,"parents":["HP:0002719","HP:0011947"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Frequent respiratory infections"},{"scope":"EXACT","text":"Multiple respiratory infections"},{"scope":"EXACT","text":"Recurrent respiratory infections"},{"scope":"EXACT","text":"Susceptibility to respiratory infections"},{"scope":"EXACT","text":"respiratory infections, recurrent"}]} +{"alt_ids":["HP:0006523"],"definition":"Replacement of normal lung tissues by fibroblasts and collagen.","id":"HP:0002206","name":"Pulmonary fibrosis","obsolete":false,"parents":["HP:0006530"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pulmonary scarring"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002207","name":"Diffuse reticular or finely nodular infiltrations","obsolete":false,"parents":["HP:0002113"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0200078"],"definition":"Hair shafts are rough in texture.","id":"HP:0002208","name":"Coarse hair","obsolete":false,"parents":["HP:0010719"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Coarse hair"},{"scope":"EXACT","text":"Coarse hair texture"},{"scope":"BROAD","text":"Rough hair texture"}]} +{"alt_ids":["HP:0002233","HP:0002556","HP:0004526","HP:0004534","HP:0004541","HP:0004542","HP:0004772","HP:0004774","HP:0004775","HP:0004782"],"definition":"Decreased number of hairs per unit area of skin of the scalp.","id":"HP:0002209","name":"Sparse scalp hair","obsolete":false,"parents":["HP:0008070","HP:0100037"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased number of scalp follicles"},{"scope":"EXACT","text":"Hypotrichosis on scalp"},{"scope":"EXACT","text":"Reduced amount of scalp hair"},{"scope":"EXACT","text":"Reduced/lack of hair on scalp"},{"scope":"EXACT","text":"Reduction in the number of scalp follicles"},{"scope":"EXACT","text":"Scalp hypotrichosis"},{"scope":"EXACT","text":"Sparse scalp hair"},{"scope":"RELATED","text":"Thin scalp hair"},{"scope":"EXACT","text":"Thinning scalp hair"}]} +{"alt_ids":[],"definition":"A triangular depigmented region of white hairs located in the anterior midline of the scalp.","id":"HP:0002211","name":"White forelock","obsolete":false,"parents":["HP:0011365"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Poliosis of anterior hair"},{"scope":"EXACT","text":"Poliosis of forelock hair"},{"scope":"EXACT","text":"White part of hair above forehead"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002212","name":"Curly hair","obsolete":false,"parents":["HP:0010719"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curly hair"}]} +{"alt_ids":["HP:0200132"],"definition":"Hair that is fine or thin to the touch.","id":"HP:0002213","name":"Fine hair","obsolete":false,"parents":["HP:0010719"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fine hair"},{"scope":"EXACT","text":"Fine hair shaft"},{"scope":"EXACT","text":"Fine hair texture"},{"scope":"EXACT","text":"Thin hair"},{"scope":"EXACT","text":"Thin hair shaft"},{"scope":"EXACT","text":"Thin hair texture"},{"scope":"EXACT","text":"Thinned hair"}]} +{"alt_ids":["HP:0004514","HP:0004518","HP:0004545"],"definition":"Reduced number or density of axillary hair.","id":"HP:0002215","name":"Sparse axillary hair","obsolete":false,"parents":["HP:0008070","HP:0100134"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Limited armpit hair"},{"scope":"EXACT","text":"Little underarm hair"},{"scope":"BROAD","text":"Sparse axillary and pubic hair"},{"scope":"BROAD","text":"Sparse scalp, axillary, and pubic hair"},{"scope":"EXACT","text":"sparse to absent axillary hair"}]} +{"alt_ids":[],"definition":"Development of gray hair at a younger than normal age.","id":"HP:0002216","name":"Premature graying of hair","obsolete":false,"parents":["HP:0007495","HP:0009887"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Early graying"},{"scope":"EXACT","text":"Early greying"},{"scope":"EXACT","text":"Premature graying"},{"scope":"EXACT","text":"Premature graying of hair"},{"scope":"RELATED","text":"Premature graying of the hair"},{"scope":"EXACT","text":"Premature greying"},{"scope":"EXACT","text":"Premature greying of hair"},{"scope":"RELATED","text":"Premature greying of the hair"},{"scope":"EXACT","text":"Premature hair graying"},{"scope":"EXACT","text":"Premature hair greying"}]} +{"alt_ids":["HP:0004767","HP:0004770","HP:0004781"],"definition":"Hair whose growth is slower than normal.","id":"HP:0002217","name":"Slow-growing hair","obsolete":false,"parents":["HP:0011363"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delayed hair growth"},{"scope":"EXACT","text":"Poor hair growth"},{"scope":"EXACT","text":"Slow growing hair"},{"scope":"EXACT","text":"Slow rate of hair growth"},{"scope":"EXACT","text":"Slow speed of hair growth"},{"scope":"EXACT","text":"Slow-growing hair"}]} +{"alt_ids":[],"definition":"Hypopigmented hair that appears silver-gray.","id":"HP:0002218","name":"Silver-gray hair","obsolete":false,"parents":["HP:0011358"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Silver-gray hair"},{"scope":"EXACT","text":"Silver-gray hair color"},{"scope":"EXACT","text":"Silver-gray hair colour"},{"scope":"EXACT","text":"Silvery-gray hair"}]} +{"alt_ids":[],"definition":"Excessive, increased hair growth located in the facial region.","id":"HP:0002219","name":"Facial hypertrichosis","obsolete":false,"parents":["HP:0000998"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased facial hair growth"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002220","name":"Melanin pigment aggregation in hair shafts","obsolete":false,"parents":["HP:0009887"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004549"],"definition":"Absence of axillary hair.","id":"HP:0002221","name":"Absent axillary hair","obsolete":false,"parents":["HP:0002298","HP:0100134"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the eyebrow.","id":"HP:0002223","name":"Absent eyebrow","obsolete":false,"parents":["HP:0002298","HP:0100840"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent eyebrow"},{"scope":"EXACT","text":"Absent eyebrows"},{"scope":"NARROW","text":"Agenesis of eyebrows"},{"scope":"NARROW","text":"Aplasia of eyebrows"},{"scope":"EXACT","text":"Failure of development of eyebrows"},{"scope":"NARROW","text":"Loss of eyebrows"},{"scope":"NARROW","text":"Missing eyebrows"}]} +{"alt_ids":[],"definition":"The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.","id":"HP:0002224","name":"Woolly hair","obsolete":false,"parents":["HP:0010719"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Afro-textured hair"},{"scope":"EXACT","text":"Kinked hair"},{"scope":"RELATED","text":"Kinky hair texture"},{"scope":"BROAD","text":"Nappy hair texture"},{"scope":"EXACT","text":"Wooly hair"}]} +{"alt_ids":["HP:0004778"],"definition":"Reduced number or density of pubic hair.","id":"HP:0002225","name":"Sparse pubic hair","obsolete":false,"parents":["HP:0008070","HP:0100133"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased sexual hair"},{"scope":"EXACT","text":"Sparse pubic hair"},{"scope":"EXACT","text":"sparse to absent pubic hair"}]} +{"alt_ids":["HP:0002228","HP:0004536"],"definition":"White color (lack of pigmentation) of the eyebrow.","id":"HP:0002226","name":"White eyebrow","obsolete":false,"parents":["HP:0000534","HP:0009887"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Blonde eyebrow"},{"scope":"EXACT","text":"Depigmented eyebrow"},{"scope":"NARROW","text":"Grey eyebrow"},{"scope":"EXACT","text":"Hypopigmented eyebrow"},{"scope":"EXACT","text":"Pale eyebrow"},{"scope":"EXACT","text":"White eyebrow"}]} +{"alt_ids":[],"definition":"White color (lack of pigmentation) of the eyelashes.","id":"HP:0002227","name":"White eyelashes","obsolete":false,"parents":["HP:0000499","HP:0009887"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blonde eyelashes"},{"scope":"EXACT","text":"Depigmented eyelashes"},{"scope":"NARROW","text":"Grey eyelashes"},{"scope":"EXACT","text":"Pale eyelashes"},{"scope":"EXACT","text":"White eyelashes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002229","name":"obsolete Alopecia areata","obsolete":true,"parents":[],"replaced_by":["HP:0002232"],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally increased hair growth over much of the entire body.","id":"HP:0002230","name":"Generalized hirsutism","obsolete":false,"parents":["HP:0001007"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excessive hairiness over body"},{"scope":"EXACT","text":"Generalised hirsutism"}]} +{"alt_ids":[],"definition":"Sparseness of the body hair.","id":"HP:0002231","name":"Sparse body hair","obsolete":false,"parents":["HP:0008070"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Limited body hair"},{"scope":"EXACT","text":"Little body hair"},{"scope":"EXACT","text":"Sparse body hair"},{"scope":"EXACT","text":"Sparse to absent body hair"}]} +{"alt_ids":["HP:0002229"],"definition":"Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches.","id":"HP:0002232","name":"Patchy alopecia","obsolete":false,"parents":["HP:0001596","HP:0011360"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Alopecia areata"},{"scope":"EXACT","text":"Patchy baldness"}]} +{"alt_ids":[],"definition":"Loss of scalp hair at an earlier than normal age.","id":"HP:0002234","name":"Early balding","obsolete":false,"parents":["HP:0011360"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Early balding"}]} +{"alt_ids":["HP:0002285"],"definition":"A characteristic triangular, kidney- or heat-shaped diameter of hair shafts with typical longitudinal canalicular deformation as observable by scanning electron microscopy.","id":"HP:0002235","name":"Pili canaliculi","obsolete":false,"parents":["HP:0003328"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Upward and/or sideward growth of anterior hair.","id":"HP:0002236","name":"Frontal upsweep of hair","obsolete":false,"parents":["HP:0010721"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cowlick"},{"scope":"EXACT","text":"Frontal Cowlick"},{"scope":"EXACT","text":"Frontal upsweep of hair"},{"scope":"EXACT","text":"Upswept frontal hair"},{"scope":"RELATED","text":"Upswept frontal hair pattern"},{"scope":"RELATED","text":"Upswept frontal hairline"}]} +{"alt_ids":[],"definition":"Hemorrhage affecting the gastrointestinal tract.","id":"HP:0002239","name":"Gastrointestinal hemorrhage","obsolete":false,"parents":["HP:0011029","HP:0012719"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"GI haemorrhage"},{"scope":"EXACT","text":"GI hemorrhage"},{"scope":"EXACT","text":"Gastrointestinal bleeding"},{"scope":"EXACT","text":"Gastrointestinal haemorrhage"}]} +{"alt_ids":["HP:0001393","HP:0001398"],"definition":"Abnormally increased size of the liver.","id":"HP:0002240","name":"Hepatomegaly","obsolete":false,"parents":["HP:0003271","HP:0410042"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged liver"}]} +{"alt_ids":["HP:0002628"],"definition":"An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.","id":"HP:0002242","name":"Abnormal intestine morphology","obsolete":false,"parents":["HP:0012718"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the intestine"},{"scope":"EXACT","text":"Enteropathy"}]} +{"alt_ids":[],"definition":"Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract.","id":"HP:0002243","name":"Protein-losing enteropathy","obsolete":false,"parents":["HP:0002244"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural abnormality of the small intestine.","id":"HP:0002244","name":"Abnormal small intestine morphology","obsolete":false,"parents":["HP:0002242"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the small intestine"}]} +{"alt_ids":[],"definition":"Meckel's diverticulum is a congenital diverticulum located in the distal ileum.","id":"HP:0002245","name":"Meckel diverticulum","obsolete":false,"parents":["HP:0001549"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the duodenum, i.e., the first section of the small intestine.","id":"HP:0002246","name":"Abnormal duodenum morphology","obsolete":false,"parents":["HP:0002244"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the duodenum"}]} +{"alt_ids":[],"definition":"A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.","id":"HP:0002247","name":"Duodenal atresia","obsolete":false,"parents":["HP:0002246","HP:0011100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence or narrowing of first part of small bowel"}]} +{"alt_ids":[],"definition":"The vomiting of blood.","id":"HP:0002248","name":"Hematemesis","obsolete":false,"parents":["HP:0002239"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vomiting blood"}]} +{"alt_ids":[],"definition":"The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.","id":"HP:0002249","name":"Melena","obsolete":false,"parents":["HP:0002239","HP:0025085"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Black faeces"},{"scope":"NARROW","text":"Black feces"}]} +{"alt_ids":[],"definition":"Any abnormality of the large intestine.","id":"HP:0002250","name":"Abnormal large intestine morphology","obsolete":false,"parents":["HP:0002242"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the large intestine"}]} +{"alt_ids":["HP:0002029","HP:0002030","HP:0002606","HP:0004391"],"definition":"An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.","id":"HP:0002251","name":"Aganglionic megacolon","obsolete":false,"parents":["HP:0004362","HP:6000852"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged colon lacking nerve cells"},{"scope":"RELATED","text":"Hirschsprung disease"},{"scope":"EXACT","text":"Hirschsprung megacolon"}]} +{"alt_ids":["HP:0005860"],"definition":"The presence of multiple diverticula of the colon.","id":"HP:0002253","name":"Colonic diverticula","obsolete":false,"parents":["HP:0002250","HP:0005222"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Colon diverticula"},{"scope":"EXACT","text":"Colonic diverticulosis"}]} +{"alt_ids":[],"definition":"Repeated episodes of diarrhea separated by periods without diarrhea.","id":"HP:0002254","name":"Intermittent diarrhea","obsolete":false,"parents":["HP:0002014"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Episodic diarrhea"},{"scope":"EXACT","text":"Episodic diarrhoea"},{"scope":"EXACT","text":"Intermittent diarrhoea"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002256","name":"Small bowel diverticula","obsolete":false,"parents":["HP:0002244","HP:0005222"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Chronic inflammation of the nasal mucosa.","id":"HP:0002257","name":"Chronic rhinitis","obsolete":false,"parents":["HP:0012384"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"More pronounced paramedian peaks and median notch of the Cupid's bow.","id":"HP:0002263","name":"Exaggerated cupid's bow","obsolete":false,"parents":["HP:0011339"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cupid bow upper lip"},{"scope":"EXACT","text":"Cupid's bow, accentuated"},{"scope":"EXACT","text":"Cupid-bow shaped upper lip"},{"scope":"EXACT","text":"Exaggerated cupid's bow"},{"scope":"EXACT","text":"Prominent cupid-bow of upper lip"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002265","name":"Large fleshy ears","obsolete":false,"parents":["HP:0000400"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Large fleshy ears"}]} +{"alt_ids":[],"definition":"A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.","id":"HP:0002266","name":"Focal clonic seizure","obsolete":false,"parents":["HP:0011153","HP:0020221"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal clonic seizures"},{"scope":"EXACT","text":"Localised clonic seizure"},{"scope":"EXACT","text":"Localized clonic seizure"},{"scope":"EXACT","text":"Partial clonic seizure"},{"scope":"EXACT","text":"Segmental clonic seizure"}]} +{"alt_ids":[],"definition":"An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face.","id":"HP:0002267","name":"Exaggerated startle response","obsolete":false,"parents":["HP:0002071"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Exaggerated acoustic startle response"},{"scope":"RELATED","text":"Hyperekplexia"},{"scope":"EXACT","text":"Increased startle response"}]} +{"alt_ids":["HP:0002412"],"definition":"A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.","id":"HP:0002268","name":"Paroxysmal dystonia","obsolete":false,"parents":["HP:0001332"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Episodic dystonia"}]} +{"alt_ids":["HP:0007317"],"definition":"An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.","id":"HP:0002269","name":"Abnormality of neuronal migration","obsolete":false,"parents":["HP:0002011"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal neuronal migration"},{"scope":"EXACT","text":"Heterotopias/abnormal migration"},{"scope":"EXACT","text":"Migrational brain disorder"},{"scope":"EXACT","text":"Neuronal migration disorder"}]} +{"alt_ids":[],"definition":"An abnormality of the autonomic nervous system.","id":"HP:0002270","name":"Abnormality of the autonomic nervous 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situated along the ventricular walls or within the subcortical white matter.","id":"HP:0002282","name":"Gray matter heterotopia","obsolete":false,"parents":["HP:0002269"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gray matter heterotopias"},{"scope":"EXACT","text":"Grey matter heterotopia"},{"scope":"EXACT","text":"Grey matter heterotopias"},{"scope":"EXACT","text":"Heterotopia"},{"scope":"EXACT","text":"Heterotopias"},{"scope":"EXACT","text":"Neuronal heterotopia"}]} +{"alt_ids":["HP:0002369","HP:0002462"],"definition":"Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.","id":"HP:0002283","name":"Global brain atrophy","obsolete":false,"parents":["HP:0002977","HP:0012444"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Diffuse brain atrophy"},{"scope":"EXACT","text":"Generalised brain atrophy"},{"scope":"EXACT","text":"Generalised brain degeneration"},{"scope":"EXACT","text":"Generalised cerebral 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+{"alt_ids":[],"definition":"Progressive loss of hair.","id":"HP:0002287","name":"Progressive alopecia","obsolete":false,"parents":["HP:0001596"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004550"],"definition":"Loss of all hair on the entire body.","id":"HP:0002289","name":"Alopecia universalis","obsolete":false,"parents":["HP:0001596"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Alopecia, complete"},{"scope":"RELATED","text":"Universal alopecia"}]} +{"alt_ids":[],"definition":"Circumscribed depigmentation of the hair of the head or the eyelashes.","id":"HP:0002290","name":"Poliosis","obsolete":false,"parents":["HP:0011365"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Patch of white hair"},{"scope":"EXACT","text":"White patch"}]} +{"alt_ids":[],"definition":"Absence of hair in the anterior midline and/or parietal areas.","id":"HP:0002292","name":"Frontal 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Mutism as a phenomena assumes the individual has previous capacity for speech and in the pediatric population it assumes that the person is past the age of typical language development.","id":"HP:0002300","name":"Mutism","obsolete":false,"parents":["HP:0002167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inability to speak"},{"scope":"EXACT","text":"Muteness"}]} +{"alt_ids":[],"definition":"Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.","id":"HP:0002301","name":"Hemiplegia","obsolete":false,"parents":["HP:0004374"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Paralysis on one side of body"}]} +{"alt_ids":[],"definition":"Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.","id":"HP:0002304","name":"Akinesia","obsolete":false,"parents":["HP:0002374"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007167","HP:0007316"],"definition":"A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.","id":"HP:0002305","name":"Athetosis","obsolete":false,"parents":["HP:0004305"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Athetoid movements"},{"scope":"EXACT","text":"Involuntary writhing movements"},{"scope":"EXACT","text":"Involuntary writhing movements in fingers, hands, toes, and feet"}]} +{"alt_ids":[],"definition":"Drooling is the overflowing of saliva from the mouth.","id":"HP:0002307","name":"Drooling","obsolete":false,"parents":["HP:0100755"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dribbling"},{"scope":"EXACT","text":"Drooling"},{"scope":"EXACT","text":"Sialorrhea"}]} +{"alt_ids":[],"definition":"Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.","id":"HP:0002308","name":"Chiari malformation","obsolete":false,"parents":["HP:0001317"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Arnold-Chiari malformation"},{"scope":"EXACT","text":"Cerebellar tonsillar ectopia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002310","name":"Orofacial dyskinesia","obsolete":false,"parents":["HP:0100660"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Orofacial dyskinesias"}]} +{"alt_ids":["HP:0002275","HP:0002276","HP:0002370"],"definition":"A deficit in coordination of muscle movements. 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Resting tremors are often slow and coarse.","id":"HP:0002322","name":"Resting tremor","obsolete":false,"parents":["HP:0001337"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Parkinsonian tremor"},{"scope":"EXACT","text":"Rest tremor"},{"scope":"EXACT","text":"Resting tremor"},{"scope":"EXACT","text":"Tremor at rest"}]} +{"alt_ids":[],"definition":"Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development.","id":"HP:0002323","name":"Anencephaly","obsolete":false,"parents":["HP:0007364","HP:0034237"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Embryonic anencephaly"},{"scope":"EXACT","text":"Fetal anencephaly"},{"scope":"EXACT","text":"Foetal anencephaly"}]} +{"alt_ids":[],"definition":"A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue.","id":"HP:0002324","name":"Hydranencephaly","obsolete":false,"parents":["HP:0002323"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hydrancephaly"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002326","name":"Transient ischemic attack","obsolete":false,"parents":["HP:0001297","HP:0002637"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mini stroke"},{"scope":"EXACT","text":"TIA"},{"scope":"EXACT","text":"Transient ischaemic attack"},{"scope":"EXACT","text":"Transient ischaemic attacks"},{"scope":"EXACT","text":"Transient ischemic attacks"}]} +{"alt_ids":[],"definition":"Abnormal feeling of sleepiness or difficulty staying awake.","id":"HP:0002329","name":"Drowsiness","obsolete":false,"parents":["HP:0004372"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal drowsiness"},{"scope":"EXACT","text":"Drowsiness"},{"scope":"EXACT","text":"Sleepiness"},{"scope":"EXACT","text":"Sleepy"},{"scope":"EXACT","text":"Somnolence"}]} +{"alt_ids":[],"definition":"A sleep attack is a sudden, irresistable episode of sleep that occurs during waking hours.","id":"HP:0002330","name":"Sleep attack","obsolete":false,"parents":["HP:0025288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Paroxysmal drowsiness"},{"scope":"EXACT","text":"Sleep attacks"}]} +{"alt_ids":[],"definition":"Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality.","id":"HP:0002331","name":"Recurrent paroxysmal headache","obsolete":false,"parents":["HP:0002315"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The state of not having relationships with peers outside of school or organized activity appropriate to developmental level. This may be caused by behavioral or physical barriers.","id":"HP:0002332","name":"Lack of peer relationships","obsolete":false,"parents":["HP:5200016"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Loss of previously present motor (i.e., movement) abilities.","id":"HP:0002333","name":"Motor deterioration","obsolete":false,"parents":["HP:0001268"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Progressive degeneration of movement"}]} +{"alt_ids":[],"definition":"An anomaly of the vermis of cerebellum.","id":"HP:0002334","name":"Abnormal cerebellar vermis morphology","obsolete":false,"parents":["HP:0001317"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the cerebellar vermis"}]} +{"alt_ids":["HP:0007125"],"definition":"Congenital absence of the vermis of cerebellum.","id":"HP:0002335","name":"Agenesis of cerebellar vermis","obsolete":false,"parents":["HP:0006817"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cerebellar vermis aplasia"},{"scope":"EXACT","text":"Vermian agenesis"}]} +{"alt_ids":[],"definition":"Any structural abnormality of the caudate nucleus.","id":"HP:0002339","name":"Abnormal caudate nucleus morphology","obsolete":false,"parents":["HP:0010994"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the caudate nucleus"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002340","name":"Caudate atrophy","obsolete":false,"parents":["HP:0007374"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Caudate degeneration"}]} +{"alt_ids":["HP:0007145"],"definition":"Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness.","id":"HP:0002341","name":"Cervical cord compression","obsolete":false,"parents":["HP:0002176"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cervical cord compression myelopathy"}]} +{"alt_ids":["HP:0007303"],"definition":"Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49.","id":"HP:0002342","name":"Moderate intellectual disability","obsolete":false,"parents":["HP:0001249"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"IQ between 34 and 49"},{"scope":"EXACT","text":"Intellectual disability, moderate"},{"scope":"EXACT","text":"Mental retardation, moderate"},{"scope":"EXACT","text":"Moderate mental deficiency"},{"scope":"EXACT","text":"Moderate mental retardation"}]} +{"alt_ids":[],"definition":"A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture.","id":"HP:0002343","name":"Normal pressure hydrocephalus","obsolete":false,"parents":["HP:0000238"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Normal-pressure hydrocephalus"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002344","name":"Progressive neurologic deterioration","obsolete":false,"parents":["HP:0001268"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neurologic deterioration"},{"scope":"EXACT","text":"Neurologic deterioration, progressive"},{"scope":"EXACT","text":"Progressive mental deterioration"},{"scope":"EXACT","text":"Progressive neurodegeneration"},{"scope":"EXACT","text":"Worsening neurological symptoms"}]} +{"alt_ids":[],"definition":"A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.","id":"HP:0002345","name":"Action tremor","obsolete":false,"parents":["HP:0001337"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Ataxic tremor"}]} +{"alt_ids":[],"definition":"An unintentional, oscillating to-and-fro muscle movement affecting head movement.","id":"HP:0002346","name":"Head tremor","obsolete":false,"parents":["HP:0030188"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Head tremor"}]} +{"alt_ids":[],"definition":"A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.","id":"HP:0002349","name":"Focal aware seizure","obsolete":false,"parents":["HP:0007359"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal aware seizures"},{"scope":"EXACT","text":"Focal seizure with retained awareness"},{"scope":"EXACT","text":"Focal seizure without impairment of awareness"},{"scope":"EXACT","text":"Focal seizure without impairment of consciousness or awareness"},{"scope":"EXACT","text":"Focal seizures without impairment of consciousness or awareness"},{"scope":"EXACT","text":"Partial seizure with retained awareness"},{"scope":"EXACT","text":"Partial seizure without impairment of awareness"},{"scope":"EXACT","text":"Simple partial seizure"},{"scope":"EXACT","text":"Simple partial seizures"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002350","name":"Cerebellar cyst","obsolete":false,"parents":["HP:0001317","HP:0010576"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cerebellar cysts"}]} +{"alt_ids":["HP:0006838","HP:0007073"],"definition":"This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.","id":"HP:0002352","name":"Leukoencephalopathy","obsolete":false,"parents":["HP:0002060"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001346","HP:0002429","HP:0006841"],"definition":"Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.","id":"HP:0002353","name":"EEG abnormality","obsolete":false,"parents":["HP:0030178"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal EEG"},{"scope":"EXACT","text":"Abnormal electroencephalogram"},{"scope":"EXACT","text":"EEG abnormalities"},{"scope":"EXACT","text":"Electroencephalogram abnormal"},{"scope":"EXACT","text":"Electroencephalogram abnormalities"}]} +{"alt_ids":["HP:0000747","HP:0002081"],"definition":"An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.","id":"HP:0002354","name":"Memory impairment","obsolete":false,"parents":["HP:0100543"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Amnesia"},{"scope":"EXACT","text":"Forgetfulness"},{"scope":"EXACT","text":"Memory impairment"},{"scope":"EXACT","text":"Memory loss"},{"scope":"EXACT","text":"Memory problems"},{"scope":"EXACT","text":"Poor memory"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002355","name":"obsolete Difficulty walking","obsolete":true,"parents":[],"replaced_by":["HP:0001288"],"synonyms":[]} +{"alt_ids":[],"definition":"A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument.","id":"HP:0002356","name":"Writer's cramp","obsolete":false,"parents":["HP:0004373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Writer's cramp"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002357","name":"obsolete Dysphasia","obsolete":true,"parents":[],"replaced_by":["HP:0002381"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0002359","name":"Frequent falls","obsolete":false,"parents":["HP:0004302"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Frequent falls"}]} +{"alt_ids":[],"definition":"An abnormal pattern in the quality, quantity, or characteristics of sleep.","id":"HP:0002360","name":"Sleep disturbance","obsolete":false,"parents":["HP:0011446"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Difficulty sleeping"},{"scope":"EXACT","text":"Sleep abnormality"},{"scope":"EXACT","text":"Sleep disturbances"},{"scope":"EXACT","text":"Sleep dysfunction"},{"scope":"EXACT","text":"Sleep-wake disturbance"},{"scope":"EXACT","text":"Trouble sleeping"}]} +{"alt_ids":[],"definition":"Loss of previously present mental and motor abilities.","id":"HP:0002361","name":"Psychomotor deterioration","obsolete":false,"parents":["HP:0001268"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Psychomotor degeneration"}]} +{"alt_ids":[],"definition":"A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.","id":"HP:0002362","name":"Shuffling gait","obsolete":false,"parents":["HP:0001288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Shuffled walk"}]} +{"alt_ids":[],"definition":"An anomaly of the brainstem.","id":"HP:0002363","name":"Abnormal brainstem morphology","obsolete":false,"parents":["HP:0012443"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of brainstem"},{"scope":"EXACT","text":"Abnormality of brainstem morphology"},{"scope":"EXACT","text":"Abnormality of the brainstem"}]} +{"alt_ids":[],"definition":"Underdevelopment of the brainstem.","id":"HP:0002365","name":"Hypoplasia of the brainstem","obsolete":false,"parents":["HP:0007362"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brainstem hypoplasia"},{"scope":"EXACT","text":"Hypoplastic brain stem"},{"scope":"EXACT","text":"Hypoplastic brainstem"},{"scope":"EXACT","text":"Small brainstem"},{"scope":"EXACT","text":"Underdeveloped brainstem"}]} +{"alt_ids":["HP:0007276"],"definition":"Any structural anomaly of the lower motor neuron.","id":"HP:0002366","name":"Abnormal lower motor neuron morphology","obsolete":false,"parents":["HP:0000759","HP:0002450"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lower motor neuron disease"},{"scope":"EXACT","text":"Lower motor neuron manifestations"},{"scope":"EXACT","text":"Lower motor neuron signs"}]} +{"alt_ids":[],"definition":"Visual perception in the absence of a visual stimulus.","id":"HP:0002367","name":"Visual hallucination","obsolete":false,"parents":["HP:0000738"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Visual hallucinations"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002370","name":"obsolete Poor coordination","obsolete":true,"parents":[],"replaced_by":["HP:0002311"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0002371","name":"Loss of speech","obsolete":false,"parents":["HP:0002167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Loss of speech"}]} +{"alt_ids":[],"definition":"Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis.","id":"HP:0002372","name":"Normal interictal EEG","obsolete":false,"parents":["HP:0025373"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002175","HP:0007102"],"definition":"A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.","id":"HP:0002373","name":"Febrile seizure (within the age range of 3 months to 6 years)","obsolete":false,"parents":["HP:0032894"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Febrile convulsion"},{"scope":"EXACT","text":"Febrile seizures"},{"scope":"EXACT","text":"Seizures, febrile, in early childhood"},{"scope":"EXACT","text":"Seizures, generalized, associated with fever"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002374","name":"Diminished movement","obsolete":false,"parents":["HP:0100022"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Diminished movement"}]} +{"alt_ids":["HP:0002603","HP:0006795"],"definition":"Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.","id":"HP:0002375","name":"Hypokinesia","obsolete":false,"parents":["HP:0002374"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased muscle movement"},{"scope":"EXACT","text":"Decreased spontaneous movement"},{"scope":"EXACT","text":"Decreased spontaneous movements"}]} +{"alt_ids":["HP:0002471","HP:0002489","HP:0006797","HP:0006828","HP:0006854","HP:0007037","HP:0007242","HP:0007247"],"definition":"Loss of developmental skills, as manifested by loss of developmental milestones.","id":"HP:0002376","name":"Developmental regression","obsolete":false,"parents":["HP:0012759"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Loss of acquired milestones"},{"scope":"EXACT","text":"Loss of developmental milestones"},{"scope":"EXACT","text":"Loss of milestones"},{"scope":"EXACT","text":"Mental deterioration in childhood"},{"scope":"EXACT","text":"Neurodevelopmental regression"},{"scope":"EXACT","text":"Psychomotor regression"},{"scope":"EXACT","text":"Psychomotor regression beginning in infancy"},{"scope":"EXACT","text":"Psychomotor regression in infants"},{"scope":"EXACT","text":"Psychomotor regression, progressive"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002377","name":"obsolete Paraganglioma-related cranial nerve palsy","obsolete":true,"parents":[],"replaced_by":["HP:0006824"],"synonyms":[]} +{"alt_ids":[],"definition":"An unintentional, oscillating to-and-fro muscle movement affecting the hand.","id":"HP:0002378","name":"Hand tremor","obsolete":false,"parents":["HP:0030188"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hand tremor"},{"scope":"EXACT","text":"Tremor of hand"},{"scope":"EXACT","text":"Tremor of hands"},{"scope":"EXACT","text":"tremors in hands"}]} +{"alt_ids":["HP:0002468","HP:0007092"],"definition":"Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.","id":"HP:0002380","name":"Fasciculations","obsolete":false,"parents":["HP:0004305"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fasciculation"},{"scope":"EXACT","text":"Muscle fasciculation"},{"scope":"EXACT","text":"Muscle twitch"}]} +{"alt_ids":["HP:0002357"],"definition":"An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.","id":"HP:0002381","name":"Aphasia","obsolete":false,"parents":["HP:0002167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Difficulty finding words"},{"scope":"EXACT","text":"Losing words"},{"scope":"EXACT","text":"Loss of words"}]} +{"alt_ids":[],"definition":"A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity.","id":"HP:0002383","name":"Infectious encephalitis","obsolete":false,"parents":["HP:0011450"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brain inflammation"}]} +{"alt_ids":["HP:0002278"],"definition":"Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.","id":"HP:0002384","name":"Focal impaired awareness seizure","obsolete":false,"parents":["HP:0007359","HP:0011146"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complex focal seizures"},{"scope":"EXACT","text":"Complex partial seizure"},{"scope":"EXACT","text":"Complex partial seizures"},{"scope":"EXACT","text":"Dyscognitive seizures"},{"scope":"EXACT","text":"Focal dyscognitive seizure"},{"scope":"EXACT","text":"Focal impaired awareness seizures"},{"scope":"EXACT","text":"Focal seizure with impairment of awareness"},{"scope":"EXACT","text":"Focal seizure with loss of awareness"},{"scope":"EXACT","text":"Focal seizures with impairment of consciousness or awareness"},{"scope":"EXACT","text":"Localised dyscognitive seizure"},{"scope":"EXACT","text":"Localised seizure with impaired awareness"},{"scope":"EXACT","text":"Localised seizure with loss of awareness"},{"scope":"EXACT","text":"Localized dyscognitive seizure"},{"scope":"EXACT","text":"Localized seizure with impaired awareness"},{"scope":"EXACT","text":"Localized seizure with loss of awareness"},{"scope":"EXACT","text":"Partial dyscognitive seizure"},{"scope":"EXACT","text":"Partial seizure with impairment of awareness"},{"scope":"EXACT","text":"Partial seizure with loss of awareness"}]} +{"alt_ids":[],"definition":"Weakness or partial paralysis in the lower limbs.","id":"HP:0002385","name":"Paraparesis","obsolete":false,"parents":["HP:0010551"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial paralysis of legs"}]} +{"alt_ids":["HP:0006884","HP:0007091","HP:0007336"],"definition":"If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space.","id":"HP:0002389","name":"Cavum septum pellucidum","obsolete":false,"parents":["HP:0007375"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Large cavum septi pellucidi"},{"scope":"EXACT","text":"Persistent cavum septum pellucidum"},{"scope":"EXACT","text":"Widened cavum septum pellucidum"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002390","name":"Spinal arteriovenous malformation","obsolete":false,"parents":["HP:0002143","HP:0100026"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of complexes of repetitive spikes and waves in EEG.","id":"HP:0002392","name":"EEG with polyspike wave complexes","obsolete":false,"parents":["HP:0010850"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EEG: spike and multispike waves, 3-4 hz"}]} +{"alt_ids":["HP:0007245","HP:0007288"],"definition":"Increased intensity of the a reflex in the leg.","id":"HP:0002395","name":"Lower limb hyperreflexia","obsolete":false,"parents":["HP:0001347"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brisk lower extremity reflexes"},{"scope":"EXACT","text":"Hyperreflexia in lower limbs"},{"scope":"EXACT","text":"Hyperreflexia in the lower limbs"},{"scope":"EXACT","text":"Increased deep tendon reflexes in the lower limbs"},{"scope":"EXACT","text":"Leg hyperreflexia"},{"scope":"EXACT","text":"Overactive lower leg reflex"}]} +{"alt_ids":[],"definition":"A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched).","id":"HP:0002396","name":"Cogwheel rigidity","obsolete":false,"parents":["HP:0002063"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007136","HP:0008312"],"definition":null,"id":"HP:0002398","name":"Degeneration of anterior horn cells","obsolete":false,"parents":["HP:0006802","HP:0007373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anterior horn cell loss"},{"scope":"EXACT","text":"Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord"},{"scope":"EXACT","text":"Degeneration of spinal cord anterior horn cells"},{"scope":"EXACT","text":"Loss of spinal cord anterior horn cells"},{"scope":"EXACT","text":"Progressive loss of anterior horn cells"},{"scope":"EXACT","text":"Spinal cord anterior horn cell degeneration"}]} +{"alt_ids":[],"definition":"No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours.","id":"HP:0002401","name":"Stroke-like episode","obsolete":false,"parents":["HP:0001297"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Stroke-like episodes"},{"scope":"EXACT","text":"Strokelike episodes"}]} +{"alt_ids":[],"definition":"The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.","id":"HP:0002403","name":"Positive Romberg sign","obsolete":false,"parents":["HP:0010831"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased width of the superior cerebellar peduncle.","id":"HP:0002404","name":"Thickened superior cerebellar peduncle","obsolete":false,"parents":["HP:0011932"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thick cerebellar peduncles"}]} +{"alt_ids":[],"definition":"A type of dysmetria involving the limbs.","id":"HP:0002406","name":"Limb dysmetria","obsolete":false,"parents":["HP:0001310"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Uncoordinated limb movement"}]} +{"alt_ids":[],"definition":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain.","id":"HP:0002408","name":"Cerebral arteriovenous malformation","obsolete":false,"parents":["HP:0100026","HP:0100659"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cerebral AV malformation"}]} +{"alt_ids":[],"definition":"Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.","id":"HP:0002410","name":"Aqueductal stenosis","obsolete":false,"parents":["HP:0002118"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aqueduct of Sylvius stenosis"},{"scope":"EXACT","text":"Aqueduct stenosis"},{"scope":"EXACT","text":"Narrowing of aqueduct of Sylvius"}]} +{"alt_ids":[],"definition":"Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.","id":"HP:0002411","name":"Myokymia","obsolete":false,"parents":["HP:0100022"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.","id":"HP:0002414","name":"Spina bifida","obsolete":false,"parents":["HP:0010301"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Split spine"}]} +{"alt_ids":["HP:0006926","HP:0007079"],"definition":"Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.","id":"HP:0002415","name":"Leukodystrophy","obsolete":false,"parents":["HP:0011400"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Degeneration of white matter of brain"}]} +{"alt_ids":[],"definition":"Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life.","id":"HP:0002416","name":"Subependymal cysts","obsolete":false,"parents":["HP:0002118","HP:0010576"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Subependymal germinolytic cyst"},{"scope":"EXACT","text":"Subependymal pseudocyst"}]} +{"alt_ids":[],"definition":"An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct.","id":"HP:0002418","name":"Abnormal midbrain morphology","obsolete":false,"parents":["HP:0012443"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of midbrain"},{"scope":"EXACT","text":"Abnormality of midbrain morphology"},{"scope":"EXACT","text":"Abnormality of the mesencephalon"},{"scope":"EXACT","text":"Abnormality of the midbrain"}]} +{"alt_ids":[],"definition":"An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth.","id":"HP:0002419","name":"Molar tooth sign on MRI","obsolete":false,"parents":["HP:0002418"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Molar tooth sign"},{"scope":"EXACT","text":"Molar tooth sign on brain imaging"},{"scope":"EXACT","text":"Molar tooth sign on imaging"}]} +{"alt_ids":[],"definition":"Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months.","id":"HP:0002421","name":"Poor head control","obsolete":false,"parents":["HP:0001324"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delay in head control"},{"scope":"EXACT","text":"Delay in head righting"},{"scope":"EXACT","text":"Infant head lag"},{"scope":"EXACT","text":"Poor head control"}]} +{"alt_ids":[],"definition":"Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions. These include spasticity, hyperreflexia, and abnormal reflexes such as Babinski or Hoffman's sign. If possible, it is preferable to use the precise HPO terms for these abnormalities.","id":"HP:0002423","name":"Long-tract sign","obsolete":false,"parents":["HP:0034482"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Long tract signs"},{"scope":"EXACT","text":"Long-tract signs"}]} +{"alt_ids":[],"definition":"A defect in the motor ability that enables speech.","id":"HP:0002425","name":"Anarthria","obsolete":false,"parents":["HP:0002167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Loss of articulate speech"}]} +{"alt_ids":[],"definition":"Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.","id":"HP:0002427","name":"Expressive aphasia","obsolete":false,"parents":["HP:0002381"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broca's aphasia"},{"scope":"EXACT","text":"Loss of expressive speech"},{"scope":"EXACT","text":"Motor aphasia"},{"scope":"EXACT","text":"Non-fluent aphasia"}]} +{"alt_ids":[],"definition":"Protrusion of the meninges through a defect of the skull or vertebral column.","id":"HP:0002435","name":"Meningocele","obsolete":false,"parents":["HP:0010651","HP:0034238"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A herniation of meninges through a congenital bone defect in the skull in the occipital region.","id":"HP:0002436","name":"Occipital meningocele","obsolete":false,"parents":["HP:0002435"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0002438","name":"obsolete Cerebellar malformation","obsolete":true,"parents":[],"replaced_by":["HP:0001317"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0002439","name":"Frontolimbic dementia","obsolete":false,"parents":["HP:0000726"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A specific learning disability involving mathematics and arithmetic.","id":"HP:0002442","name":"Dyscalculia","obsolete":false,"parents":["HP:0001328"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acalculia"},{"scope":"BROAD","text":"Difficulty making arithmetical calculations"}]} +{"alt_ids":[],"definition":"The presence of a hamartoma of the hypothalamus.","id":"HP:0002444","name":"Hypothalamic hamartoma","obsolete":false,"parents":["HP:0009731","HP:0012286"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0010552"],"definition":"Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord.","id":"HP:0002445","name":"Tetraplegia","obsolete":false,"parents":["HP:0030182"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Paralysis of all four limbs"},{"scope":"EXACT","text":"Quadriplegia"}]} +{"alt_ids":[],"definition":"Proliferation of astrocytes in the area of a lesion of the central nervous system.","id":"HP:0002446","name":"Astrocytosis","obsolete":false,"parents":["HP:0100707"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Increase in astrocyte number"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002448","name":"Progressive encephalopathy","obsolete":false,"parents":["HP:0001298"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Progressive brain disease"}]} +{"alt_ids":[],"definition":"Any structural anomaly that affects the motor neuron.","id":"HP:0002450","name":"Abnormal motor neuron morphology","obsolete":false,"parents":["HP:0012757"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of motor neuron"}]} +{"alt_ids":[],"definition":"A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.","id":"HP:0002451","name":"Limb dystonia","obsolete":false,"parents":["HP:0001332"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007040"],"definition":"An abnormality of the globus pallidus.","id":"HP:0002453","name":"Abnormal globus pallidus morphology","obsolete":false,"parents":["HP:0002134"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0012677"],"definition":"The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus.","id":"HP:0002454","name":"Eye of the tiger anomaly of globus pallidus","obsolete":false,"parents":["HP:0002453","HP:0012675"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0002457","name":"Abnormal head movements","obsolete":false,"parents":["HP:0100022"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal head movements"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002459","name":"obsolete Dysautonomia","obsolete":true,"parents":[],"replaced_by":["HP:0012332"],"synonyms":[]} +{"alt_ids":["HP:0002598","HP:0002935","HP:0003497","HP:0006940","HP:0009008"],"definition":"Reduced strength of the musculature of the distal extremities.","id":"HP:0002460","name":"Distal muscle weakness","obsolete":false,"parents":["HP:0001324"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Distal limb muscle weakness"},{"scope":"RELATED","text":"Distal limb muscle weakness due to peripheral neuropathy"},{"scope":"EXACT","text":"Distal limb weakness"},{"scope":"EXACT","text":"Distal muscular weakness"},{"scope":"EXACT","text":"Distal paresis"},{"scope":"EXACT","text":"Muscle weakness, distal"},{"scope":"EXACT","text":"Muscle weakness, distal limbs, due to neuronopathy"},{"scope":"EXACT","text":"Weakness of distal muscles"},{"scope":"EXACT","text":"Weakness of outermost muscles"}]} +{"alt_ids":[],"definition":"Pathological deposition of calcium salts in the dentate nucleus of the cerebellum.","id":"HP:0002461","name":"Cerebellar dentate nucleus calcification","obsolete":false,"parents":["HP:0007352","HP:0100321"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.","id":"HP:0002463","name":"Language impairment","obsolete":false,"parents":["HP:0034434"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Language disorder"}]} +{"alt_ids":[],"definition":"A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.","id":"HP:0002464","name":"Spastic dysarthria","obsolete":false,"parents":["HP:0001257","HP:0001260"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rigid dysarthria"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002465","name":"Poor speech","obsolete":false,"parents":["HP:0002167"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Difficulty speaking"},{"scope":"EXACT","text":"Poor speech"},{"scope":"BROAD","text":"Problems speaking"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002470","name":"Nonprogressive cerebellar ataxia","obsolete":false,"parents":["HP:0001251"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006791","HP:0007151"],"definition":"Reduced size of the cerebral cortex.","id":"HP:0002472","name":"Small cerebral cortex","obsolete":false,"parents":["HP:0002538"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased volume of cerebral cortex"}]} +{"alt_ids":["HP:0007192"],"definition":"A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.","id":"HP:0002474","name":"Expressive language delay","obsolete":false,"parents":["HP:0000750"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Communication delay"},{"scope":"EXACT","text":"Deficit in expressive language"}]} +{"alt_ids":[],"definition":"Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.","id":"HP:0002475","name":"Myelomeningocele","obsolete":false,"parents":["HP:0034237"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Meningomyelocele"},{"scope":"EXACT","text":"Spina bifida cystica"}]} +{"alt_ids":[],"definition":"The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.","id":"HP:0002476","name":"Primitive reflex","obsolete":false,"parents":["HP:0031826"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Archaic reflex"},{"scope":"EXACT","text":"Primitive reflexes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002478","name":"Progressive spastic quadriplegia","obsolete":false,"parents":["HP:0002191"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Progressive spastic quadriparesis"}]} +{"alt_ids":[],"definition":"Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes.","id":"HP:0002480","name":"Hepatic encephalopathy","obsolete":false,"parents":["HP:0001298"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0002483","name":"Bulbar signs","obsolete":false,"parents":["HP:0012638"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003632","HP:0003754","HP:0003792"],"definition":"An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.","id":"HP:0002486","name":"Myotonia","obsolete":false,"parents":["HP:0011804"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delayed relaxation of muscle fibers after contraction"},{"scope":"EXACT","text":"Delayed relaxation of muscle fibres after contraction"}]} +{"alt_ids":[],"definition":"Motor hyperactivity with excessive movement of muscles of the body as a whole.","id":"HP:0002487","name":"Hyperkinetic movements","obsolete":false,"parents":["HP:0100022"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperactive movements"},{"scope":"EXACT","text":"Hyperkinesia"},{"scope":"EXACT","text":"Hyperkinesis"}]} +{"alt_ids":[],"definition":"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).","id":"HP:0002488","name":"Acute leukemia","obsolete":false,"parents":["HP:0001909"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Acute blood cancer"},{"scope":"EXACT","text":"Acute leukaemia"},{"scope":"EXACT","text":"Acute leukemias"}]} +{"alt_ids":[],"definition":"Increased concentration of lactate in the cerebrospinal fluid.","id":"HP:0002490","name":"Increased CSF lactate","obsolete":false,"parents":["HP:0030085"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperlactatorachia"},{"scope":"EXACT","text":"Increased CSF lactic acid"},{"scope":"EXACT","text":"Increased cerebrospinal fluid lactate"}]} +{"alt_ids":["HP:0000313"],"definition":"Spasticity of one or more muscles innervated by the facial nerve.","id":"HP:0002491","name":"Spasticity of facial muscles","obsolete":false,"parents":["HP:0000301","HP:0001257"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Increased stiffness of facial muscles"},{"scope":"NARROW","text":"Increased tone of facial muscles"},{"scope":"EXACT","text":"Spasticity of the facial muscles"}]} +{"alt_ids":["HP:0006912"],"definition":"Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord.","id":"HP:0002492","name":"Abnormal corticospinal tract morphology","obsolete":false,"parents":["HP:0002062"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormality of the corticospinal tract"},{"scope":"RELATED","text":"Involvement of the corticospinal pathways"},{"scope":"EXACT","text":"Morphological abnormality of the corticospinal tract"}]} +{"alt_ids":[],"definition":"A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs.","id":"HP:0002493","name":"Upper motor neuron dysfunction","obsolete":false,"parents":["HP:0011442"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Corticospinal tract dysfunction"},{"scope":"EXACT","text":"Pyramidal tract dysfunction"}]} +{"alt_ids":[],"definition":"Abnormality of REM Sleep are phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tone except for the eye and middle-ear muscles. There are also phases of rapid eye movements.","id":"HP:0002494","name":"Abnormal rapid eye movement sleep","obsolete":false,"parents":["HP:0002360"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal REM sleep"}]} +{"alt_ids":["HP:0006836","HP:0007116"],"definition":"A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.","id":"HP:0002495","name":"Impaired vibratory sensation","obsolete":false,"parents":["HP:0010831"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased vibration sense"},{"scope":"EXACT","text":"Decreased vibratory sense"},{"scope":"EXACT","text":"Diminished vibratory sense"},{"scope":"EXACT","text":"Hypopallesthesia"},{"scope":"EXACT","text":"Impaired vibratory sensation"},{"scope":"EXACT","text":"Impaired vibratory sense"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002497","name":"Spastic ataxia","obsolete":false,"parents":["HP:0001251"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0200100"],"definition":"An abnormality of the cerebral white matter.","id":"HP:0002500","name":"Abnormal cerebral white matter morphology","obsolete":false,"parents":["HP:0010993"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of subcortical white matter"},{"scope":"EXACT","text":"Abnormality of the cerebral white matter"},{"scope":"EXACT","text":"Cerebral white matter abnormalities"},{"scope":"RELATED","text":"Cortical white matter abnormalities seen on MRI"},{"scope":"EXACT","text":"Leukoaraiosis"},{"scope":"EXACT","text":"White matter abnormalities"},{"scope":"EXACT","text":"White matter alterations"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002501","name":"Spasticity of pharyngeal muscles","obsolete":false,"parents":["HP:0001257"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0002503","name":"Spinocerebellar tract degeneration","obsolete":false,"parents":["HP:0003133"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Degeneration of the spinocerebellar tracts"},{"scope":"EXACT","text":"Spinocerebellar degeneration"}]} +{"alt_ids":[],"definition":"Deposition of calcium salts within small blood vessels of the brain.","id":"HP:0002504","name":"Calcification of the small brain vessels","obsolete":false,"parents":["HP:0009145","HP:0031306"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006957"],"definition":"Inability to walk in a person who previous had the ability to walk.","id":"HP:0002505","name":"Loss of ambulation","obsolete":false,"parents":["HP:0002540"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Loss of ability to walk"}]} +{"alt_ids":["HP:0006954"],"definition":"Diffuse unlocalised atrophy affecting the cerebrum.","id":"HP:0002506","name":"Diffuse cerebral atrophy","obsolete":false,"parents":["HP:0002059"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cerebral atrophy, diffuse"}]} +{"alt_ids":[],"definition":"A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.","id":"HP:0002507","name":"Semilobar holoprosencephaly","obsolete":false,"parents":["HP:0001360"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006991"],"definition":"A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord.","id":"HP:0002508","name":"Brainstem dysplasia","obsolete":false,"parents":["HP:0002363"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brainstem hypoplasia/dysplasia"},{"scope":"EXACT","text":"Malformation of brainstem structures"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002509","name":"Limb hypertonia","obsolete":false,"parents":["HP:0001276","HP:0009127"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Appendicular hypertonia"},{"scope":"EXACT","text":"Increased muscle tone of arm or leg"}]} +{"alt_ids":["HP:0001280","HP:0006983"],"definition":"Spastic paralysis affecting all four limbs.","id":"HP:0002510","name":"Spastic tetraplegia","obsolete":false,"parents":["HP:0034353","HP:0100021"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spastic quadriplegia"}]} +{"alt_ids":["HP:0006878","HP:0007213"],"definition":"A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads.","id":"HP:0002511","name":"Alzheimer disease","obsolete":false,"parents":["HP:0002011"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Alzheimer disease"},{"scope":"EXACT","text":"Late-onset form of familial Alzheimer disease"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002512","name":"Brain stem compression","obsolete":false,"parents":["HP:0002363"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002502","HP:0005806","HP:0006848"],"definition":"The presence of calcium deposition within the cerebrum.","id":"HP:0002514","name":"Cerebral calcification","obsolete":false,"parents":["HP:0002060","HP:0430048"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal deposits of calcium in the brain"}]} +{"alt_ids":[],"definition":"Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.","id":"HP:0002515","name":"Waddling gait","obsolete":false,"parents":["HP:0001288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Waddling gait"},{"scope":"EXACT","text":"Waddling walk"}]} +{"alt_ids":[],"definition":"An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.","id":"HP:0002516","name":"Increased intracranial pressure","obsolete":false,"parents":["HP:0012640"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intracranial hypertension"},{"scope":"EXACT","text":"Intracranial pressure elevation"},{"scope":"RELATED","text":"Pseudotumor cerebri"},{"scope":"EXACT","text":"Rise in pressure inside skull"}]} +{"alt_ids":[],"definition":"A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles.","id":"HP:0002518","name":"Abnormal periventricular white matter morphology","obsolete":false,"parents":["HP:0002352","HP:0002500"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the periventricular white matter"},{"scope":"RELATED","text":"Periventricular white matter abnormalities"}]} +{"alt_ids":[],"definition":"Hypnagogic hallucinations are brief hallucinations that occur when falling asleep.","id":"HP:0002519","name":"Hypnagogic hallucination","obsolete":false,"parents":["HP:4000063","HP:5200296"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hallucinations while falling asleep"}]} +{"alt_ids":[],"definition":"Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).","id":"HP:0002521","name":"Hypsarrhythmia","obsolete":false,"parents":["HP:0011198"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypsarrhythmia by EEG"}]} +{"alt_ids":[],"definition":"Inability to elicit tendon reflexes in the lower limbs.","id":"HP:0002522","name":"Areflexia of lower limbs","obsolete":false,"parents":["HP:0001284","HP:0002814"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent lower limb tendon reflexes"},{"scope":"EXACT","text":"Areflexia in lower limbs"},{"scope":"EXACT","text":"Areflexia of the lower limbs"},{"scope":"EXACT","text":"Areflexia, lower limbs"}]} +{"alt_ids":["HP:0002428","HP:0002525","HP:0030050"],"definition":"A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions.","id":"HP:0002524","name":"Cataplexy","obsolete":false,"parents":["HP:0011442"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Narcolepsy"}]} +{"alt_ids":[],"definition":"Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory.","id":"HP:0002526","name":"Deficit in nonword repetition","obsolete":false,"parents":["HP:0002167"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0002527","name":"Falls","obsolete":false,"parents":["HP:0001288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Falls"}]} +{"alt_ids":[],"definition":"Electron-dense granules within double membrane-bound cytoplasmic vacuoles.","id":"HP:0002528","name":"Granulovacuolar degeneration","obsolete":false,"parents":["HP:0002060","HP:0002180"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002400"],"definition":null,"id":"HP:0002529","name":"Neuronal loss in central nervous system","obsolete":false,"parents":["HP:0007367"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Loss of brain cells"},{"scope":"EXACT","text":"Neuronal loss"},{"scope":"EXACT","text":"Neuronal loss in CNS"}]} +{"alt_ids":[],"definition":"A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.","id":"HP:0002530","name":"Axial dystonia","obsolete":false,"parents":["HP:0001332"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Truncal dystonia"}]} +{"alt_ids":[],"definition":"Involuntary flexion or extension of the arms and legs.","id":"HP:0002533","name":"Abnormal posturing","obsolete":false,"parents":["HP:0100022"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006900"],"definition":"An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.","id":"HP:0002536","name":"Abnormal cortical gyration","obsolete":false,"parents":["HP:0002269","HP:0002538"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal gyration"},{"scope":"EXACT","text":"Cerebral gyral anomalies"},{"scope":"BROAD","text":"Gyral disorganisation"},{"scope":"BROAD","text":"Gyral disorganization"}]} +{"alt_ids":[],"definition":"Any structural abnormality of the cerebral cortex.","id":"HP:0002538","name":"Abnormal cerebral cortex morphology","obsolete":false,"parents":["HP:0002060"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the cerebral cortex"}]} +{"alt_ids":["HP:0007139"],"definition":"The presence of developmental dysplasia of the cerebral cortex.","id":"HP:0002539","name":"Cortical dysplasia","obsolete":false,"parents":["HP:0002538"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neocortical dysplasia"}]} +{"alt_ids":[],"definition":"Incapability to ambulate.","id":"HP:0002540","name":"Inability to walk","obsolete":false,"parents":["HP:0001288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inability to walk"},{"scope":"EXACT","text":"Non-ambulatory"}]} +{"alt_ids":["HP:0005683"],"definition":"Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus.","id":"HP:0002542","name":"Olivopontocerebellar atrophy","obsolete":false,"parents":["HP:0001317"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Olivopontocerebellar degeneration"}]} +{"alt_ids":[],"definition":"A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.","id":"HP:0002544","name":"Retrocollis","obsolete":false,"parents":["HP:0000473"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Patchy loss of myelin from nerve fibers in the central nervous system.","id":"HP:0002545","name":"Patchy demyelination of subcortical white matter","obsolete":false,"parents":["HP:0007305"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0002546","name":"Incomprehensible speech","obsolete":false,"parents":["HP:0002167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Incomprehensible speech"}]} +{"alt_ids":[],"definition":"Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication.","id":"HP:0002548","name":"Parkinsonism with favorable response to dopaminergic medication","obsolete":false,"parents":["HP:0001300"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Favorable response to levodopa"},{"scope":"RELATED","text":"Favourable response to levodopa"},{"scope":"EXACT","text":"Parkinsonism with favourable response to dopaminergic medication"}]} +{"alt_ids":[],"definition":"Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory","id":"HP:0002549","name":"Deficit in phonologic short-term memory","obsolete":false,"parents":["HP:0033687"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deficit in non-word repetition"},{"scope":"EXACT","text":"Impaired non-word repetition"}]} +{"alt_ids":[],"definition":"Absence of facial hair.","id":"HP:0002550","name":"Absent facial hair","obsolete":false,"parents":["HP:0002298"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent facial hair"}]} +{"alt_ids":["HP:0004515"],"definition":"Developmental dysplasia of the hair.","id":"HP:0002552","name":"Trichodysplasia","obsolete":false,"parents":["HP:0001595"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Generalised trichodysplasia"},{"scope":"RELATED","text":"Generalized trichodysplasia"}]} +{"alt_ids":["HP:0001584","HP:0004533","HP:0007681","HP:0007804","HP:0008505"],"definition":"Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.","id":"HP:0002553","name":"Highly arched eyebrow","obsolete":false,"parents":["HP:0000534"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Arched eyebrows"},{"scope":"RELATED","text":"Bowed and upward slanting eyebrows"},{"scope":"EXACT","text":"Broad, arched eyebrows"},{"scope":"RELATED","text":"High arched eyebrows"},{"scope":"EXACT","text":"High, rounded eyebrows"},{"scope":"EXACT","text":"High-arched eyebrows"},{"scope":"EXACT","text":"Highly arched eyebrow"},{"scope":"EXACT","text":"Thick, flared eyebrows"}]} +{"alt_ids":["HP:0004537","HP:0004556"],"definition":"Absence of pubic hair.","id":"HP:0002555","name":"Absent pubic hair","obsolete":false,"parents":["HP:0002298","HP:0100133"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent pubic hair"}]} +{"alt_ids":["HP:0002560","HP:0003188","HP:0006652"],"definition":"Underdevelopment of the nipple.","id":"HP:0002557","name":"Hypoplastic nipples","obsolete":false,"parents":["HP:0006709"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nipple hypoplasia"},{"scope":"EXACT","text":"Small nipples"}]} +{"alt_ids":["HP:0002559"],"definition":"Presence of more than two nipples.","id":"HP:0002558","name":"Supernumerary nipple","obsolete":false,"parents":["HP:0004404"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Accessory nipple"},{"scope":"RELATED","text":"Accessory nipples"},{"scope":"EXACT","text":"Increased nipple number"},{"scope":"RELATED","text":"Supernumerary nipples"},{"scope":"EXACT","text":"accessory mamilla"},{"scope":"RELATED","text":"accessory mamillas"}]} +{"alt_ids":[],"definition":"Congenital failure to develop, and absence of, the nipple.","id":"HP:0002561","name":"Absent nipple","obsolete":false,"parents":["HP:0006709"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent nipple"},{"scope":"EXACT","text":"Absent nipples"},{"scope":"EXACT","text":"Athelia"}]} +{"alt_ids":[],"definition":"Placement of the nipples at a lower than normal location.","id":"HP:0002562","name":"Low-set nipples","obsolete":false,"parents":["HP:0004404"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low-set nipples"}]} +{"alt_ids":[],"definition":"Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium.","id":"HP:0002563","name":"Constrictive pericarditis","obsolete":false,"parents":["HP:0001701"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0002564","name":"obsolete Malformation of the heart and great vessels","obsolete":true,"parents":[],"replaced_by":["HP:0030680"],"synonyms":[]} +{"alt_ids":["HP:0002026"],"definition":"An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.","id":"HP:0002566","name":"Intestinal malrotation","obsolete":false,"parents":["HP:0002242"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Gut malrotation"},{"scope":"EXACT","text":"Malrotation"}]} +{"alt_ids":[],"definition":"Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.","id":"HP:0002570","name":"Steatorrhea","obsolete":false,"parents":["HP:0002630"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fat in faeces"},{"scope":"EXACT","text":"Fat in feces"},{"scope":"EXACT","text":"Fatty stool"},{"scope":"EXACT","text":"Greasy stools"}]} +{"alt_ids":[],"definition":"A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus.","id":"HP:0002571","name":"Achalasia","obsolete":false,"parents":["HP:0031857"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Achalasia of the esophagus"},{"scope":"EXACT","text":"Achalasia of the oesophagus"}]} +{"alt_ids":[],"definition":"Paroxysmal, recurrent episodes of vomiting.","id":"HP:0002572","name":"Episodic vomiting","obsolete":false,"parents":["HP:0002013"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Episodic vomiting"},{"scope":"RELATED","text":"Frequent vomiting"}]} +{"alt_ids":["HP:0002255","HP:0002609"],"definition":"The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.","id":"HP:0002573","name":"Hematochezia","obsolete":false,"parents":["HP:0002239","HP:0025085"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rectal bleeding"},{"scope":"RELATED","text":"Recurrent rectal bleeding"}]} +{"alt_ids":[],"definition":"An intermittent form of abdominal pain.","id":"HP:0002574","name":"Episodic abdominal pain","obsolete":false,"parents":["HP:0002027","HP:0032148"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Intermittent abdominal pain"}]} +{"alt_ids":[],"definition":"An abnormal connection (fistula) between the esophagus and the trachea.","id":"HP:0002575","name":"Tracheoesophageal fistula","obsolete":false,"parents":["HP:0002031","HP:0002778"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Abnormal connection between trachea and esophagus"},{"scope":"BROAD","text":"Abnormal connection between trachea and oesophagus"}]} +{"alt_ids":[],"definition":"An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine.","id":"HP:0002576","name":"Intussusception","obsolete":false,"parents":["HP:0002242"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the stomach.","id":"HP:0002577","name":"Abnormal stomach morphology","obsolete":false,"parents":["HP:0012718"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the stomach"}]} +{"alt_ids":[],"definition":"Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction.","id":"HP:0002578","name":"Gastroparesis","obsolete":false,"parents":["HP:0011804","HP:0025032"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delayed gastric emptying"}]} +{"alt_ids":[],"definition":"Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.","id":"HP:0002579","name":"Gastrointestinal dysmotility","obsolete":false,"parents":["HP:0030895"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"GI dysmotility"}]} +{"alt_ids":[],"definition":"Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue.","id":"HP:0002580","name":"Volvulus","obsolete":false,"parents":["HP:0002242"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue.","id":"HP:0002582","name":"Atrophic gastritis","obsolete":false,"parents":["HP:0005263"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic atrophic gastritis"}]} +{"alt_ids":[],"definition":"Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases.","id":"HP:0002583","name":"Colitis","obsolete":false,"parents":["HP:0002037"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bleeding from the intestines.","id":"HP:0002584","name":"Intestinal bleeding","obsolete":false,"parents":["HP:0002239","HP:0002242"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intestinal bleeding"},{"scope":"EXACT","text":"Intestinal haemorrhage"},{"scope":"EXACT","text":"Intestinal hemorrhage"}]} +{"alt_ids":[],"definition":"An abnormality of the peritoneum.","id":"HP:0002585","name":"Abnormal peritoneum morphology","obsolete":false,"parents":["HP:0002012"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the peritoneum"}]} +{"alt_ids":["HP:0100591"],"definition":"Inflammation of the peritoneum.","id":"HP:0002586","name":"Peritonitis","obsolete":false,"parents":["HP:0002585","HP:0045073"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inflammation of the peritoneum"}]} +{"alt_ids":[],"definition":"Vomiting that ejects the gastric contents with great force.","id":"HP:0002587","name":"Projectile vomiting","obsolete":false,"parents":["HP:0002013"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Projectile vomiting"}]} +{"alt_ids":[],"definition":"An erosion of the mucous membrane in a portion of the duodenum.","id":"HP:0002588","name":"Duodenal ulcer","obsolete":false,"parents":["HP:0002246","HP:0034274"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0002589","name":"Gastrointestinal atresia","obsolete":false,"parents":["HP:0012718"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"GI atresia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002590","name":"Paralytic ileus","obsolete":false,"parents":["HP:0002595"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0000724","HP:0002042"],"definition":"A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.","id":"HP:0002591","name":"Polyphagia","obsolete":false,"parents":["HP:0100738"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperphagia"},{"scope":"RELATED","text":"Increased appetite"},{"scope":"EXACT","text":"Voracious appetite"}]} +{"alt_ids":[],"definition":"An ulcer, that is, an erosion of an area of the gastric mucous membrane.","id":"HP:0002592","name":"Gastric ulcer","obsolete":false,"parents":["HP:0004295","HP:0004398"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Stomach ulcer"}]} +{"alt_ids":[],"definition":"Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines.","id":"HP:0002593","name":"Intestinal lymphangiectasia","obsolete":false,"parents":["HP:0002242","HP:0031842"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005221"],"definition":"Hypoplasia of the pancreas.","id":"HP:0002594","name":"Pancreatic hypoplasia","obsolete":false,"parents":["HP:0100800"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic pancreas"},{"scope":"EXACT","text":"Underdeveloped pancreas"}]} +{"alt_ids":[],"definition":"Acute obstruction of the intestines preventing passage of the contents of the intestines.","id":"HP:0002595","name":"Ileus","obsolete":false,"parents":["HP:0002579","HP:0005214"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gastrointestinal atony"}]} +{"alt_ids":[],"definition":"An abnormality of the vasculature.","id":"HP:0002597","name":"Abnormality of the vasculature","obsolete":false,"parents":["HP:0001626"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of blood vessels"},{"scope":"EXACT","text":"Abnormality of the vasculature"},{"scope":"EXACT","text":"Vascular abnormalities"}]} +{"alt_ids":[],"definition":"A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction.","id":"HP:0002599","name":"Head titubation","obsolete":false,"parents":["HP:0002346","HP:0002457","HP:0030187"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006861"],"definition":"Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.","id":"HP:0002600","name":"Hyporeflexia of lower limbs","obsolete":false,"parents":["HP:0001265","HP:0002814"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyporeflexia in lower limbs"},{"scope":"EXACT","text":"Hyporeflexia of the lower limbs"},{"scope":"EXACT","text":"Hyporeflexia, lower limbs"},{"scope":"EXACT","text":"Hyporeflexia/areflexia in lower limbs"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002601","name":"Paresis of extensor muscles of the big toe","obsolete":false,"parents":["HP:0001844","HP:0002460"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Telangiectasia affecting the gastrointestinal tract.","id":"HP:0002604","name":"Gastrointestinal telangiectasia","obsolete":false,"parents":["HP:0004296","HP:0100579"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"GI telangiectasia"},{"scope":"EXACT","text":"Small, enlarged blood vessels near skin"}]} +{"alt_ids":[],"definition":"The presence of cell death (necrosis) affecting the liver.","id":"HP:0002605","name":"Hepatic necrosis","obsolete":false,"parents":["HP:0410042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007147"],"definition":"Involuntary fecal soiling in adults and children who have usually already been toilet trained.","id":"HP:0002607","name":"Bowel incontinence","obsolete":false,"parents":["HP:0012700","HP:0031064"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anal incontinence"},{"scope":"EXACT","text":"Faecal incontinence"},{"scope":"EXACT","text":"Fecal incontinence"},{"scope":"EXACT","text":"Loss of bowel control"}]} +{"alt_ids":[],"definition":"Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurrence of CD is seen as a feature of a number of other diseases.","id":"HP:0002608","name":"Celiac disease","obsolete":false,"parents":["HP:0002244","HP:0100326"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Celiac disease"},{"scope":"EXACT","text":"Celiac sprue"},{"scope":"EXACT","text":"Coeliac disease"},{"scope":"EXACT","text":"Coeliac sprue"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002611","name":"Cholestatic liver disease","obsolete":false,"parents":["HP:0001396"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of fibrosis of that part of the liver with congenital onset.","id":"HP:0002612","name":"Congenital hepatic fibrosis","obsolete":false,"parents":["HP:0001395"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital liver fibrosis"},{"scope":"EXACT","text":"Excessive buildup of connective tissue and scarring of liver at birth"}]} +{"alt_ids":[],"definition":"Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.","id":"HP:0002613","name":"Biliary cirrhosis","obsolete":false,"parents":["HP:0012440"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Primary biliary cirrhosis"}]} +{"alt_ids":[],"definition":"A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein.","id":"HP:0002614","name":"Hepatic periportal necrosis","obsolete":false,"parents":["HP:0002605"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005127","HP:0006701"],"definition":"Low Blood Pressure, vascular hypotension.","id":"HP:0002615","name":"Hypotension","obsolete":false,"parents":["HP:0030972"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Arterial hypotension"},{"scope":"EXACT","text":"Low blood pressure"}]} +{"alt_ids":["HP:0002631","HP:0004750","HP:0005125"],"definition":"An abnormal localized widening (dilatation) of the aortic root.","id":"HP:0002616","name":"Aortic root aneurysm","obsolete":false,"parents":["HP:0012727"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Aortic root dilatation"},{"scope":"EXACT","text":"Bulge in wall of root of large artery that carries blood away from heart"},{"scope":"EXACT","text":"Enlarged aortic root"},{"scope":"EXACT","text":"Increased aortic root diameter"}]} +{"alt_ids":[],"definition":"An abnormal increase in the diameter of an artery or vein, either as a diffuse dilatation or as a localized, sac-like outpouching of the vessel wall (aneurysm).","id":"HP:0002617","name":"Vascular dilatation","obsolete":false,"parents":["HP:0033353"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Aneurysm"},{"scope":"EXACT","text":"Aneurysmal dilatation"},{"scope":"RELATED","text":"Aneurysmal disease"},{"scope":"NARROW","text":"Aneurysms"},{"scope":"EXACT","text":"Wider than typical opening or gap"}]} +{"alt_ids":[],"definition":"Enlarged and tortuous veins.","id":"HP:0002619","name":"Varicose veins","obsolete":false,"parents":["HP:0005293"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow.","id":"HP:0002621","name":"Atherosclerosis","obsolete":false,"parents":["HP:0002634"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atherosclerotic cardiovascular disease"},{"scope":"EXACT","text":"Narrowing and hardening of arteries"},{"scope":"BROAD","text":"Plaque build-up in arteries"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002622","name":"obsolete Dissecting aortic dilatation","obsolete":true,"parents":[],"replaced_by":["HP:0002647"],"synonyms":[]} +{"alt_ids":[],"definition":"An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle.","id":"HP:0002623","name":"Overriding aorta","obsolete":false,"parents":["HP:0001679"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dextroposition of aorta"},{"scope":"EXACT","text":"Overriding aortic valve"}]} +{"alt_ids":[],"definition":"An anomaly of vein.","id":"HP:0002624","name":"Abnormal venous morphology","obsolete":false,"parents":["HP:0033353"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal vein"},{"scope":"EXACT","text":"Venous abnormality"}]} +{"alt_ids":[],"definition":"Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.","id":"HP:0002625","name":"Deep venous thrombosis","obsolete":false,"parents":["HP:0004936"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blood clot in a deep vein"},{"scope":"EXACT","text":"Deep vein thrombosis"},{"scope":"EXACT","text":"Multiple deep venous thrombosis"}]} +{"alt_ids":[],"definition":"Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein.","id":"HP:0002626","name":"Venous varicosities of celiac and mesenteric vessels","obsolete":false,"parents":["HP:0002619"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Venous varicosities of coeliac and mesenteric vessels"}]} +{"alt_ids":[],"definition":"The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery.","id":"HP:0002627","name":"Right aortic arch with mirror image branching","obsolete":false,"parents":["HP:0012020"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract.","id":"HP:0002629","name":"Gastrointestinal arteriovenous malformation","obsolete":false,"parents":["HP:0004296","HP:0100026"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"GI arteriovenous malformation"}]} +{"alt_ids":[],"definition":"Abnormality of the absorption of fat from the gastrointestinal tract.","id":"HP:0002630","name":"Fat malabsorption","obsolete":false,"parents":["HP:0002024"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0002631","name":"obsolete Dilatation of ascending aorta","obsolete":true,"parents":[],"replaced_by":["HP:0002616"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0002632","name":"Low-to-normal blood pressure","obsolete":false,"parents":["HP:0002615"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low-to-normal BP"},{"scope":"EXACT","text":"Low-to-normal blood pressure"}]} +{"alt_ids":[],"definition":"Inflammation of blood vessel.","id":"HP:0002633","name":"Vasculitis","obsolete":false,"parents":["HP:0033353"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Angiitis"},{"scope":"EXACT","text":"Inflammation of blood vessel"}]} +{"alt_ids":[],"definition":"Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity.","id":"HP:0002634","name":"Arteriosclerosis","obsolete":false,"parents":["HP:0011004"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Hardened artery wall"}]} +{"alt_ids":[],"definition":"In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion.","id":"HP:0002635","name":"Type IV atherosclerotic lesion","obsolete":false,"parents":["HP:0031678"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Atheromatosis"}]} +{"alt_ids":[],"definition":"Abnormal outpouching or sac-like dilatation in an artery that originates from the abdominal aorta.","id":"HP:0002636","name":"Dilatation of an abdominal artery","obsolete":false,"parents":["HP:0002617","HP:0011004"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Aneurysm of an abdominal artery"}]} +{"alt_ids":[],"definition":"Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue.","id":"HP:0002637","name":"Cerebral ischemia","obsolete":false,"parents":["HP:0033401"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brain ischemia"},{"scope":"EXACT","text":"Cerebrovascular ischemia"},{"scope":"EXACT","text":"Disruption of blood oxygen supply to brain"}]} +{"alt_ids":[],"definition":"Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).","id":"HP:0002638","name":"Superficial thrombophlebitis","obsolete":false,"parents":["HP:0004418"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience.","id":"HP:0002639","name":"Budd-Chiari syndrome","obsolete":false,"parents":["HP:0030846"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of hypertension associated with pheochromocytoma.","id":"HP:0002640","name":"Hypertension associated with pheochromocytoma","obsolete":false,"parents":["HP:0000822"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0002641","name":"Peripheral thrombosis","obsolete":false,"parents":["HP:0001977"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Peripheral blood clot"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002642","name":"Arteriovenous fistulas of celiac and mesenteric vessels","obsolete":false,"parents":["HP:0002624","HP:0004947"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Arteriovenous fistulas of coeliac and mesenteric vessels"}]} +{"alt_ids":[],"definition":"Respiratory difficulty as newborn.","id":"HP:0002643","name":"Neonatal respiratory distress","obsolete":false,"parents":["HP:0002093"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Infantile respiratory distress"},{"scope":"EXACT","text":"Neonatal respiratory distress"},{"scope":"EXACT","text":"Newborn respiratory distress"},{"scope":"EXACT","text":"Respiratory distress, neonatal"}]} +{"alt_ids":[],"definition":"An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.","id":"HP:0002644","name":"Abnormal pelvic girdle bone morphology","obsolete":false,"parents":["HP:0011844"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of pelvic girdle bone"},{"scope":"EXACT","text":"Abnormality of pelvic girdle bone morphology"},{"scope":"RELATED","text":"Abnormality of the pelvic girdle"}]} +{"alt_ids":[],"definition":"The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.","id":"HP:0002645","name":"Wormian bones","obsolete":false,"parents":["HP:0011329"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extra bones within cranial sutures"},{"scope":"EXACT","text":"Intra sutural bones"},{"scope":"EXACT","text":"Intrasutural bones"},{"scope":"EXACT","text":"Islands of bone within cranial sutures"}]} +{"alt_ids":["HP:0002622"],"definition":"Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.","id":"HP:0002647","name":"Aortic dissection","obsolete":false,"parents":["HP:0001679"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tear in inner wall of large artery that carries blood away from heart"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002648","name":"obsolete Abnormality of calvarial morphology","obsolete":true,"parents":[],"replaced_by":["HP:0002683"],"synonyms":[]} +{"alt_ids":["HP:0002770","HP:0003303","HP:0003317","HP:0003415"],"definition":"The presence of an abnormal lateral curvature of the spine.","id":"HP:0002650","name":"Scoliosis","obsolete":false,"parents":["HP:0010674"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Cobb angle greater than ten degrees"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002651","name":"Spondyloepimetaphyseal dysplasia","obsolete":false,"parents":["HP:0002652"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005685"],"definition":"A general term describing features characterized by abnormal development of bones and connective tissues.","id":"HP:0002652","name":"Skeletal dysplasia","obsolete":false,"parents":["HP:0011842"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Abnormal skeletal development"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.","id":"HP:0002653","name":"Bone pain","obsolete":false,"parents":["HP:0011843","HP:0012531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bone pain"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002654","name":"Multiple epiphyseal dysplasia","obsolete":false,"parents":["HP:0002652"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002776","HP:0005893"],"definition":"A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).","id":"HP:0002655","name":"Spondyloepiphyseal dysplasia","obsolete":false,"parents":["HP:0002652"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0002656","name":"Epiphyseal dysplasia","obsolete":false,"parents":["HP:0002652","HP:0005930"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Abnormal development of end part of bone"},{"scope":"EXACT","text":"Abnormal development of the ends of long bones in arms and legs"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002657","name":"Spondylometaphyseal dysplasia","obsolete":false,"parents":["HP:0002652"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002662","HP:0002798","HP:0005710","HP:0005783","HP:0005931"],"definition":"An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.","id":"HP:0002659","name":"Increased susceptibility to fractures","obsolete":false,"parents":["HP:0011843"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal susceptibility to fractures"},{"scope":"EXACT","text":"Bone fragility"},{"scope":"EXACT","text":"Frequent broken bones"},{"scope":"EXACT","text":"Increased bone fragility"},{"scope":"EXACT","text":"Increased susceptibility to fractures"},{"scope":"EXACT","text":"Increased tendency to fractures"}]} +{"alt_ids":[],"definition":"An increased tendency to fractures following trauma, with fractures occurring without pain.","id":"HP:0002661","name":"Painless fractures due to injury","obsolete":false,"parents":["HP:0002659","HP:0010832"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Painless fractures due to injury"}]} +{"alt_ids":["HP:0005862"],"definition":null,"id":"HP:0002663","name":"Delayed epiphyseal ossification","obsolete":false,"parents":["HP:0005930","HP:0010656"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delayed epiphyseal maturation"},{"scope":"RELATED","text":"Delayed maturation of end part of long bone"},{"scope":"EXACT","text":"Delayed opacification of the epiphyses"},{"scope":"EXACT","text":"Epiphyseal ossification delay"}]} +{"alt_ids":["HP:0003008","HP:0006741"],"definition":"An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).","id":"HP:0002664","name":"Neoplasm","obsolete":false,"parents":["HP:0000118"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Abnormal tissue mass"},{"scope":"RELATED","text":"Cancer"},{"scope":"EXACT","text":"Neoplasia"},{"scope":"EXACT","text":"Oncological abnormality"},{"scope":"RELATED","text":"Oncology"},{"scope":"EXACT","text":"Tumor"},{"scope":"EXACT","text":"Tumour"}]} +{"alt_ids":[],"definition":"A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.","id":"HP:0002665","name":"Lymphoma","obsolete":false,"parents":["HP:0004377"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cancer of lymphatic system"}]} +{"alt_ids":[],"definition":"Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.","id":"HP:0002666","name":"Pheochromocytoma","obsolete":false,"parents":["HP:0100634"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chromaffin tumors"},{"scope":"EXACT","text":"Chromaffin tumours"}]} +{"alt_ids":["HP:0000115"],"definition":"The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.","id":"HP:0002667","name":"Nephroblastoma","obsolete":false,"parents":["HP:0011794"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wilms tumor"},{"scope":"EXACT","text":"Wilms tumour"}]} +{"alt_ids":["HP:0002670","HP:0003004"],"definition":"A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation.","id":"HP:0002668","name":"Paraganglioma","obsolete":false,"parents":["HP:0100634"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Carotid body tumors"},{"scope":"EXACT","text":"Carotid body tumours"},{"scope":"EXACT","text":"Paragangliomas"}]} +{"alt_ids":[],"definition":"A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.","id":"HP:0002669","name":"Osteosarcoma","obsolete":false,"parents":["HP:0010622","HP:0100242"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bone cell cancer"},{"scope":"EXACT","text":"Osteogenic sarcoma"}]} +{"alt_ids":[],"definition":"The presence of a basal cell carcinoma of the skin.","id":"HP:0002671","name":"Basal cell carcinoma","obsolete":false,"parents":["HP:0008069"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Basal cell carcinomas"},{"scope":"EXACT","text":"Basal cell epithelioma"},{"scope":"EXACT","text":"Basal cell nevus"},{"scope":"EXACT","text":"Basalioma"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002672","name":"Gastrointestinal carcinoma","obsolete":false,"parents":["HP:0006749"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"GI carcinoma"}]} +{"alt_ids":[],"definition":"Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).","id":"HP:0002673","name":"Coxa valga","obsolete":false,"parents":["HP:0003367"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Coxa valga deformity"},{"scope":"EXACT","text":"Valgus hip"}]} +{"alt_ids":["HP:0004477","HP:0005459"],"definition":"Trilobar skull configuration when viewed from the front or behind.","id":"HP:0002676","name":"Cloverleaf skull","obsolete":false,"parents":["HP:0002683"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Cloverleaf cranium shape"},{"scope":"BROAD","text":"Cloverleaf skull shape"},{"scope":"EXACT","text":"Kleeblattschaedel"},{"scope":"BROAD","text":"Trilobar cranium shape"},{"scope":"BROAD","text":"Trilobar skull shape"}]} +{"alt_ids":["HP:0005468"],"definition":"An abnormal narrowing of the foramen magnum.","id":"HP:0002677","name":"Small foramen magnum","obsolete":false,"parents":["HP:0002699"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foramen magnum stenosis"},{"scope":"NARROW","text":"Hypoplasia of foramen magnum"},{"scope":"EXACT","text":"Little foramen magnum"},{"scope":"EXACT","text":"Narrow foramen magnum"},{"scope":"NARROW","text":"Stenosis of foramen magnum"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002678","name":"Skull asymmetry","obsolete":false,"parents":["HP:0002683"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Abnormality of skull shape"},{"scope":"EXACT","text":"Asymmetry of skull"},{"scope":"RELATED","text":"Malformation of skull shape"},{"scope":"EXACT","text":"Skull asymmetry"},{"scope":"BROAD","text":"Unequal skull shape"},{"scope":"BROAD","text":"Uneven skull shape"}]} +{"alt_ids":[],"definition":"Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull.","id":"HP:0002679","name":"Abnormal sella turcica morphology","obsolete":false,"parents":["HP:0000929"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Abnormality of the hypophysial fossa"},{"scope":"NARROW","text":"Abnormality of the pituitary fossa"},{"scope":"EXACT","text":"Abnormality of the sella turcica"},{"scope":"NARROW","text":"Anomaly of the hypophysial fossa"},{"scope":"NARROW","text":"Anomaly of the pituitary fossa"},{"scope":"EXACT","text":"Anomaly of the sella turcica"}]} +{"alt_ids":[],"definition":"A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull.","id":"HP:0002680","name":"J-shaped sella turcica","obsolete":false,"parents":["HP:0002681"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hour glass shaped hypophysial fossa"},{"scope":"EXACT","text":"Hour glass shaped pituitary fossa"},{"scope":"EXACT","text":"Hour glass shaped sella turcica"},{"scope":"NARROW","text":"J-shaped hypophysial fossa"},{"scope":"NARROW","text":"J-shaped pituitary fossa"},{"scope":"EXACT","text":"J-shaped sella"},{"scope":"NARROW","text":"Omega shaped hypophysial fossa"},{"scope":"NARROW","text":"Omega shaped pituitary fossa"},{"scope":"EXACT","text":"Omega shaped sella turcica"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002681","name":"Deformed sella turcica","obsolete":false,"parents":["HP:0002679"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of hypophysial fossa"},{"scope":"EXACT","text":"Abnormal shape of pituitary fossa"},{"scope":"EXACT","text":"Abnormal shape of sella turcica"},{"scope":"EXACT","text":"Deformity of hypophysial fossa"},{"scope":"EXACT","text":"Deformity of pituitary fossa"},{"scope":"EXACT","text":"Malformation of hypophysial fossa"},{"scope":"EXACT","text":"Malformation of pituitary fossa"},{"scope":"EXACT","text":"Malformation of sella turcica"}]} +{"alt_ids":[],"definition":"Increased width of the skull.","id":"HP:0002682","name":"Broad skull","obsolete":false,"parents":["HP:0002683"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad cranium"},{"scope":"EXACT","text":"Broad skull"},{"scope":"EXACT","text":"Increased width of cranium"},{"scope":"EXACT","text":"Increased width of skull"},{"scope":"EXACT","text":"Wide cranium"},{"scope":"EXACT","text":"Wide skull"}]} +{"alt_ids":["HP:0002648"],"definition":"Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.","id":"HP:0002683","name":"Abnormal calvaria morphology","obsolete":false,"parents":["HP:0000929"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of calvarium"},{"scope":"EXACT","text":"Abnormality of cranial vault"},{"scope":"BROAD","text":"Abnormality of cranium"},{"scope":"EXACT","text":"Abnormality of the calvaria"},{"scope":"EXACT","text":"Abnormality of the shape of calvarium"},{"scope":"EXACT","text":"Abnormality of the skull cap"},{"scope":"EXACT","text":"Abnormality of the skullcap"}]} +{"alt_ids":[],"definition":"The presence of an abnormally thick calvaria.","id":"HP:0002684","name":"Thickened calvaria","obsolete":false,"parents":["HP:0002683"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Calvarial thickening"},{"scope":"EXACT","text":"Calvarium thickened"},{"scope":"EXACT","text":"Increased calvarial thickness"},{"scope":"EXACT","text":"Increased thickness of calvaria"},{"scope":"EXACT","text":"Increased thickness of calvarium"},{"scope":"EXACT","text":"Increased thickness of cranial vault"},{"scope":"BROAD","text":"Increased thickness of cranium"},{"scope":"EXACT","text":"Increased thickness of skull cap"},{"scope":"EXACT","text":"Thick calvaria"},{"scope":"EXACT","text":"Thick calvarium"},{"scope":"EXACT","text":"Thickened calvarium"},{"scope":"EXACT","text":"Thickened cranial vault"},{"scope":"EXACT","text":"Thickened cranium"},{"scope":"EXACT","text":"Thickened skull cap"},{"scope":"EXACT","text":"Thickening of the calvaria"}]} +{"alt_ids":[],"definition":"Medical history of maternal diseases, exposures, or other relevant findings during the pregnancy of which the index person was the product.","id":"HP:0002686","name":"Pregnancy history","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Maternal health problem"},{"scope":"EXACT","text":"Prenatal maternal abnormality"}]} +{"alt_ids":[],"definition":"An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone.","id":"HP:0002687","name":"Abnormality of frontal sinus","obsolete":false,"parents":["HP:0000245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of sinus frontalis"},{"scope":"EXACT","text":"Abnormality of the forehead sinus"}]} +{"alt_ids":["HP:0005452","HP:0005475"],"definition":"Aplasia of frontal sinus.","id":"HP:0002688","name":"Absent frontal sinuses","obsolete":false,"parents":["HP:0009119"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of frontal sinuses"},{"scope":"EXACT","text":"Absent frontal sinus"},{"scope":"NARROW","text":"Aplasia of frontal sinus"},{"scope":"NARROW","text":"Aplasia sinus frontalis"},{"scope":"EXACT","text":"Missing frontal sinus"}]} +{"alt_ids":[],"definition":"Aplasia of the paranasal sinuses.","id":"HP:0002689","name":"Absent paranasal sinuses","obsolete":false,"parents":["HP:0005453"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of paranasal sinuses"},{"scope":"NARROW","text":"Aplasia of paranasal sinuses"},{"scope":"EXACT","text":"Missing paranasal sinuses"},{"scope":"BROAD","text":"Missing sinuses"}]} +{"alt_ids":["HP:0005444"],"definition":"An abnormal enlargement of the sella turcica.","id":"HP:0002690","name":"Large sella turcica","obsolete":false,"parents":["HP:0002679"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Big sella turcica"},{"scope":"EXACT","text":"Enlarged sella turcica"},{"scope":"NARROW","text":"Hyperplasia of hypophysial fossa"},{"scope":"NARROW","text":"Hyperplasia of pituitary fossa"},{"scope":"EXACT","text":"Hyperplasia of sella turcica"},{"scope":"NARROW","text":"Large hypophysial fossa"},{"scope":"NARROW","text":"Large pituitary fossa"},{"scope":"EXACT","text":"Prominent sella turcica"}]} +{"alt_ids":[],"definition":"A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.","id":"HP:0002691","name":"Platybasia","obsolete":false,"parents":["HP:0002683"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Flattening of the skull base"},{"scope":"EXACT","text":"Increased basal angle of skull base"},{"scope":"EXACT","text":"Obtuse basal angle of skull base"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002692","name":"Hypoplastic facial bones","obsolete":false,"parents":["HP:0034261"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased size of facial bones"},{"scope":"EXACT","text":"Decreased size of facial skeleton"},{"scope":"RELATED","text":"Flattening of facial bones"},{"scope":"RELATED","text":"Flattening of facial skeleton"},{"scope":"BROAD","text":"Hypoplasia of facial skeleton"},{"scope":"RELATED","text":"Hypotrophic facial bones"},{"scope":"RELATED","text":"Hypotrophic facial skeleton"},{"scope":"BROAD","text":"Small facial bones"},{"scope":"BROAD","text":"Small facial skeleton"},{"scope":"BROAD","text":"Underdevelopment of facial bones"},{"scope":"BROAD","text":"Underdevelopment of facial skeleton"}]} +{"alt_ids":[],"definition":"An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.","id":"HP:0002693","name":"Abnormal skull base morphology","obsolete":false,"parents":["HP:0000929"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of cranial base"},{"scope":"EXACT","text":"Abnormality of the skull base"}]} +{"alt_ids":["HP:0005757"],"definition":"Increased bone density of the skull base without significant changes in bony contour.","id":"HP:0002694","name":"Sclerosis of skull base","obsolete":false,"parents":["HP:0002693","HP:0011001"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dense bone of skull base"},{"scope":"NARROW","text":"HyperCalcification of skull base"},{"scope":"NARROW","text":"HyperMineralization of skull base"},{"scope":"EXACT","text":"Hyperossification of skull base"},{"scope":"EXACT","text":"Hyperostosis of skull base"},{"scope":"EXACT","text":"Marked sclerosis of skull base"},{"scope":"EXACT","text":"Sclerosis of cranial base"},{"scope":"EXACT","text":"Sclerosis of the skull base"},{"scope":"EXACT","text":"Sclerotic skull base"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002695","name":"obsolete Symmetrical, oval parietal bone defects","obsolete":true,"parents":[],"replaced_by":["HP:0002697"],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality of the parietal bone of the skull.","id":"HP:0002696","name":"Abnormal parietal bone morphology","obsolete":false,"parents":["HP:0002683"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the parietal bone"},{"scope":"EXACT","text":"Abnormality of the parietal bone of skull"}]} +{"alt_ids":["HP:0002695"],"definition":"The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.","id":"HP:0002697","name":"Parietal foramina","obsolete":false,"parents":["HP:0002696"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Holes in parietal bones"},{"scope":"RELATED","text":"Openings in parietal bones"},{"scope":"EXACT","text":"Persistent foramina of the parietal bones"},{"scope":"EXACT","text":"Symmetrical, oval defects in the parietal bone"},{"scope":"EXACT","text":"Symmetrical, oval parietal bone defects"}]} +{"alt_ids":[],"definition":"Any abnormality of the foramen magnum.","id":"HP:0002699","name":"Abnormal foramen magnum morphology","obsolete":false,"parents":["HP:0000929"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the foramen magnum"}]} +{"alt_ids":[],"definition":"An abnormal increase in the size of the foramen magnum.","id":"HP:0002700","name":"Large foramen magnum","obsolete":false,"parents":["HP:0002699"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Big foramen magnum"},{"scope":"EXACT","text":"Dilation of foramen magnum"},{"scope":"EXACT","text":"Enlarged foramen magnum"},{"scope":"NARROW","text":"Increased circumference of foramen magnum"},{"scope":"NARROW","text":"Increased diameter of foramen magnum"},{"scope":"EXACT","text":"Wide foramen magnum"}]} +{"alt_ids":[],"definition":"An abnormality of the process of ossification of the skull.","id":"HP:0002703","name":"Abnormality of skull ossification","obsolete":false,"parents":["HP:0000929"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormality of bone calcification of calvarium"},{"scope":"RELATED","text":"Abnormality of bone calcification of cranium"},{"scope":"RELATED","text":"Abnormality of bone calcification of skull"},{"scope":"RELATED","text":"Abnormality of bone formation of calvarium"},{"scope":"RELATED","text":"Abnormality of bone formation of cranium"},{"scope":"RELATED","text":"Abnormality of bone mineralization of calvarium"},{"scope":"RELATED","text":"Abnormality of bone mineralization of cranium"},{"scope":"RELATED","text":"Abnormality of bone mineralization of skull"},{"scope":"NARROW","text":"Abnormality of ossification of calvarium"},{"scope":"NARROW","text":"Abnormality of ossification of cranium"},{"scope":"BROAD","text":"Abnormality of skull bone formation"}]} +{"alt_ids":[],"definition":"The presence of a high and narrow palate.","id":"HP:0002705","name":"High, narrow palate","obsolete":false,"parents":["HP:0000189","HP:0000218"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gothic palate"},{"scope":"EXACT","text":"High narrow palate"},{"scope":"EXACT","text":"High vaulted palate"},{"scope":"EXACT","text":"High, narrow palate"},{"scope":"EXACT","text":"Narrow and high arched palate"},{"scope":"EXACT","text":"Narrow, high-arched palate"},{"scope":"EXACT","text":"Narrow, high-arched roof of mouth"},{"scope":"EXACT","text":"Narrow, highly arched palate"},{"scope":"EXACT","text":"Narrow, highly arched roof of mouth"}]} +{"alt_ids":["HP:0000229"],"definition":"The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate.","id":"HP:0002707","name":"Palate telangiectasia","obsolete":false,"parents":["HP:0000174","HP:0000228"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Palatal angioectasia"},{"scope":"RELATED","text":"Palatal spider veins"},{"scope":"EXACT","text":"Palatal telangiectasia"},{"scope":"EXACT","text":"Palate telangiectases"},{"scope":"EXACT","text":"Palate teleangiectases"},{"scope":"RELATED","text":"Spider veins of the roof of the mouth"},{"scope":"EXACT","text":"Telangiectasia of the roof of the mouth"}]} +{"alt_ids":[],"definition":"Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate.","id":"HP:0002708","name":"Prominent median palatal raphe","obsolete":false,"parents":["HP:0000174"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prominent central palatal ridge"},{"scope":"EXACT","text":"Prominent central ridge on roof of the mouth"},{"scope":"EXACT","text":"Prominent medial palatal suture"}]} +{"alt_ids":[],"definition":"A depression located at an oral commissure.","id":"HP:0002710","name":"Commissural lip pit","obsolete":false,"parents":["HP:0100267"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Commissural labial pits"},{"scope":"EXACT","text":"Commissural pit"},{"scope":"EXACT","text":"Lip pits at corners of the mouth"},{"scope":"EXACT","text":"Pits at the corners of the lips"}]} +{"alt_ids":[],"definition":"Increased depth of the median tongue furrow.","id":"HP:0002711","name":"Exaggerated median tongue furrow","obsolete":false,"parents":["HP:0000221"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deep central lingual furrow"},{"scope":"EXACT","text":"Deep central lingual groove"},{"scope":"EXACT","text":"Deep central tongue furrow"},{"scope":"EXACT","text":"Deep central tongue groove"},{"scope":"EXACT","text":"Deep median lingual furrow"},{"scope":"EXACT","text":"Deep median lingual groove"},{"scope":"EXACT","text":"Deep median tongue furrow"},{"scope":"EXACT","text":"Deep median tongue groove"},{"scope":"EXACT","text":"Exaggerated median lingual furrow"}]} +{"alt_ids":["HP:0000192"],"definition":"A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.","id":"HP:0002714","name":"Downturned corners of mouth","obsolete":false,"parents":["HP:0011338"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Downturned corners of mouth"},{"scope":"EXACT","text":"Downturned corners of the mouth"},{"scope":"EXACT","text":"Downturned mouth"},{"scope":"EXACT","text":"Downturned oral commisures"},{"scope":"EXACT","text":"Drooping corners of mouth"}]} +{"alt_ids":["HP:0003257","HP:0003346","HP:0010986"],"definition":"An abnormality of the immune system.","id":"HP:0002715","name":"Abnormality of the immune system","obsolete":false,"parents":["HP:0000118"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the immune system"},{"scope":"EXACT","text":"Immunological abnormality"}]} +{"alt_ids":["HP:0002735"],"definition":"Enlargement (swelling) of a lymph node.","id":"HP:0002716","name":"Lymphadenopathy","obsolete":false,"parents":["HP:0002733"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lymph node hyperplasia"},{"scope":"EXACT","text":"Swollen lymph nodes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002717","name":"Adrenal overactivity","obsolete":false,"parents":["HP:0011733"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005355","HP:0005361","HP:0005367","HP:0005391","HP:0005393","HP:0005410"],"definition":"Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection.","id":"HP:0002718","name":"Recurrent bacterial infections","obsolete":false,"parents":["HP:0002719"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bacterial infections, recurrent"},{"scope":"EXACT","text":"Frequent bacterial infections"},{"scope":"EXACT","text":"Frequent pyogenic infections"},{"scope":"EXACT","text":"Increased susceptibility to bacterial infections"},{"scope":"RELATED","text":"Prone to bacterial infection"},{"scope":"EXACT","text":"Recurrent bacterial infections"},{"scope":"EXACT","text":"Recurrent major bacterial infections"},{"scope":"EXACT","text":"Recurrent pyogenic infections"},{"scope":"EXACT","text":"Susceptibility to pyogenic infection"}]} +{"alt_ids":["HP:0002957","HP:0002964","HP:0005405"],"definition":"Increased susceptibility to infections as manifested by repeated bouts of infection.","id":"HP:0002719","name":"Recurrent infections","obsolete":false,"parents":["HP:0032101"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Frequent infections"},{"scope":"EXACT","text":"Frequent, severe infections"},{"scope":"EXACT","text":"Increased frequency of infection"},{"scope":"EXACT","text":"Predisposition to infections"},{"scope":"EXACT","text":"Recurrent infections"},{"scope":"EXACT","text":"Susceptibility to infection"},{"scope":"EXACT","text":"infections, recurrent"}]} +{"alt_ids":["HP:0005358","HP:0005399","HP:0005431","HP:0008350","HP:0011837"],"definition":"Decreased levels of immunoglobulin A (IgA).","id":"HP:0002720","name":"Decreased circulating IgA concentration","obsolete":false,"parents":["HP:0004313","HP:0410240"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased IgA"},{"scope":"EXACT","text":"Decreased circulating IgA level"},{"scope":"EXACT","text":"Decreased immunoglobulin A"},{"scope":"EXACT","text":"Gamma-A globulin deficiency"},{"scope":"EXACT","text":"IgA deficiency"},{"scope":"EXACT","text":"Low levels of immunoglobulin A"},{"scope":"EXACT","text":"Reduced IgA levels"}]} +{"alt_ids":["HP:0005362","HP:0005371"],"definition":"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.","id":"HP:0002721","name":"Immunodeficiency","obsolete":false,"parents":["HP:0010978"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased immune function"},{"scope":"EXACT","text":"Immune deficiency"}]} +{"alt_ids":[],"definition":"An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses.","id":"HP:0002722","name":"Recurrent abscess formation","obsolete":false,"parents":["HP:0002719"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity.","id":"HP:0002723","name":"Absence of bactericidal oxidative respiratory burst in phagocytes","obsolete":false,"parents":["HP:0010977"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to Aspergillus infections as manifested by recurrent episodes of Aspergillus infection.","id":"HP:0002724","name":"Recurrent Aspergillus infection","obsolete":false,"parents":["HP:0002841","HP:5210099"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aspergillus infections, recurrent"},{"scope":"EXACT","text":"Chronic aspergillosis"},{"scope":"EXACT","text":"Persistent aspergillus infection"},{"scope":"EXACT","text":"Recurrent Aspergillus infections"},{"scope":"EXACT","text":"Recurrent aspergillosis"}]} +{"alt_ids":[],"definition":"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.","id":"HP:0002725","name":"Systemic lupus erythematosus","obsolete":false,"parents":["HP:0002960"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"SLE"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Staphylococcus aureus infections as manifested by recurrent episodes of Staphylococcus aureus infection.","id":"HP:0002726","name":"Recurrent Staphylococcus aureus infection","obsolete":false,"parents":["HP:0007499","HP:5210003"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Chronic staphylococcus aureus infection"},{"scope":"NARROW","text":"Persistent staphylococcus aureus infection"},{"scope":"EXACT","text":"Staphylococcus aureus infections, recurrent"}]} +{"alt_ids":["HP:0005392"],"definition":"Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.","id":"HP:0002728","name":"Recurrent mucocutaneous candidiasis","obsolete":false,"parents":["HP:0011370","HP:5210236"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic candidiasis of mucosa, skin and nails"},{"scope":"EXACT","text":"Chronic mucocutaneous candidiasis"},{"scope":"EXACT","text":"Mucocutaneous candidiasis"},{"scope":"EXACT","text":"Persistent mucocutaneous candidiasis"}]} +{"alt_ids":[],"definition":"Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.","id":"HP:0002729","name":"Follicular hyperplasia","obsolete":false,"parents":["HP:0002716"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A chronic form of lymphadenopathy that is not related to infection.","id":"HP:0002730","name":"Chronic noninfectious lymphadenopathy","obsolete":false,"parents":["HP:0002716"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal decrease of apoptosis by peripheral blood T cells in an in vitro culture, compared to a healthy control sample. May be either spontaneous, induced by UV, X-ray, FasL or other agens. Commonly measured by surface expression of phosphatidyl serine labelled by Annexin V, but other methods such as staning of cleaved Caspases may be used by different laboratories.","id":"HP:0002731","name":"Decreased T cell apoptosis","obsolete":false,"parents":["HP:0030886"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Defective lymphocyte apoptosis"}]} +{"alt_ids":[],"definition":"Underdevelopment of the lymph nodes.","id":"HP:0002732","name":"Lymph node hypoplasia","obsolete":false,"parents":["HP:0002733"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Small lymph nodes"}]} +{"alt_ids":["HP:0008149"],"definition":"A structural lymph node abnormality.","id":"HP:0002733","name":"Abnormal lymph node morphology","obsolete":false,"parents":["HP:0100763"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal lymph node histology"},{"scope":"EXACT","text":"Abnormality of the lymph nodes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002737","name":"Thick skull base","obsolete":false,"parents":["HP:0002693"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased thickness of bone of skull base"},{"scope":"EXACT","text":"Increased thickness of skull base"},{"scope":"EXACT","text":"Thick skull base"}]} +{"alt_ids":[],"definition":"Underdevelopment of frontal sinus.","id":"HP:0002738","name":"Hypoplastic frontal sinuses","obsolete":false,"parents":["HP:0009119"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Decreased pneumatization of frontal sinus"},{"scope":"EXACT","text":"Decreased volume of frontal sinuses"},{"scope":"RELATED","text":"Hypotrophic frontal sinus"},{"scope":"EXACT","text":"Small frontal sinuses"},{"scope":"EXACT","text":"Underdeveloped frontal sinuses"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Escherichia coli infections as manifested by recurrent episodes of Escherichia coli infection.","id":"HP:0002740","name":"Recurrent Escherichia coli infection","obsolete":false,"parents":["HP:0005420","HP:5210091"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic E. coli infection"},{"scope":"EXACT","text":"E coli infections"},{"scope":"EXACT","text":"E coli infections, recurrent"},{"scope":"EXACT","text":"Persistent E. coli infection"},{"scope":"EXACT","text":"Recurrent E. coli infection"},{"scope":"EXACT","text":"Recurrent E. coli infections"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Serratia infections as manifested by recurrent episodes of Serratia infection.","id":"HP:0002741","name":"Recurrent Serratia infection","obsolete":false,"parents":["HP:0005420","HP:5210046"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic Serratia infection"},{"scope":"EXACT","text":"Persistent Serratia infection"},{"scope":"EXACT","text":"Recurrent Serratia marcescens infections"},{"scope":"EXACT","text":"Recurrent infection with Serratia species"},{"scope":"EXACT","text":"Recurrent infection with Serratia spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Klebsiella infections as manifested by recurrent episodes of Klebsiella infection.","id":"HP:0002742","name":"Recurrent Klebsiella infection","obsolete":false,"parents":["HP:0005420","HP:5210040"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic Klebsiella infection"},{"scope":"EXACT","text":"Klebsiella infections, recurrent"},{"scope":"EXACT","text":"Persistent Klebsiella infection"},{"scope":"EXACT","text":"Recurrent Klebsiella infections"},{"scope":"EXACT","text":"Recurrent infection with Klebsiella species"},{"scope":"EXACT","text":"Recurrent infection with Klebsiella spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to enteroviral infections as manifested by recurrent episodes of enteroviral infection.","id":"HP:0002743","name":"Recurrent enteroviral infections","obsolete":false,"parents":["HP:0004429"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0002744","name":"obsolete Bilateral cleft lip and palate","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A thickened white patch on the oral mucosa that cannot be rubbed off.","id":"HP:0002745","name":"Oral leukoplakia","obsolete":false,"parents":["HP:0025125"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Oral idiopathic keratosis"},{"scope":"EXACT","text":"Oral idiopathic leukoplakia"},{"scope":"EXACT","text":"Oral idiopathic white patch"},{"scope":"EXACT","text":"Oral leucoplakia"},{"scope":"EXACT","text":"Oral leukokeratosis"},{"scope":"EXACT","text":"Oral leukoplasia"},{"scope":"EXACT","text":"Oral white patch"},{"scope":"EXACT","text":"Oral white plaque"},{"scope":"EXACT","text":"leukokeratosis"}]} +{"alt_ids":["HP:0004882","HP:0004888"],"definition":null,"id":"HP:0002747","name":"Respiratory insufficiency due to muscle weakness","obsolete":false,"parents":["HP:0002093","HP:0004347"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased lung function due to weak breathing muscles"},{"scope":"EXACT","text":"Decreased respiratory function due to muscle weakness"},{"scope":"EXACT","text":"Respiratory distress due to muscle weakness"},{"scope":"EXACT","text":"Respiratory failure due to muscle weakness"},{"scope":"EXACT","text":"Respiratory muscle weakness"}]} +{"alt_ids":[],"definition":"Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.","id":"HP:0002748","name":"Rickets","obsolete":false,"parents":["HP:0004349"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Weak and soft bones"}]} +{"alt_ids":[],"definition":"Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.","id":"HP:0002749","name":"Osteomalacia","obsolete":false,"parents":["HP:0004349"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Softening of the bones"}]} +{"alt_ids":["HP:0000928","HP:0002806"],"definition":"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","id":"HP:0002750","name":"Delayed skeletal maturation","obsolete":false,"parents":["HP:0000927"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delayed bone age"},{"scope":"EXACT","text":"Delayed bone age before puberty"},{"scope":"EXACT","text":"Delayed bone maturation"},{"scope":"EXACT","text":"Delayed skeletal development"},{"scope":"EXACT","text":"Retarded bone age"},{"scope":"RELATED","text":"Retarded ossification"},{"scope":"EXACT","text":"Skeletal maturation retardation"}]} +{"alt_ids":["HP:0003412","HP:0003424","HP:0004593","HP:0005728"],"definition":"An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.","id":"HP:0002751","name":"Kyphoscoliosis","obsolete":false,"parents":["HP:0002650","HP:0002808"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0002752","name":"Sparse bone trabeculae","obsolete":false,"parents":["HP:0100671"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003104"],"definition":"Abnormal thinning of the cortical region of bones.","id":"HP:0002753","name":"Thin bony cortex","obsolete":false,"parents":["HP:0003103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thin cortices"}]} +{"alt_ids":["HP:0002755","HP:0005901"],"definition":"Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.","id":"HP:0002754","name":"Osteomyelitis","obsolete":false,"parents":["HP:0011843","HP:0012649"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bone infection"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002755","name":"obsolete Osteomyelitis due to immunodeficiency","obsolete":true,"parents":[],"replaced_by":["HP:0002754"],"synonyms":[]} +{"alt_ids":["HP:0005633"],"definition":"A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.","id":"HP:0002756","name":"Pathologic fracture","obsolete":false,"parents":["HP:0002659"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Pathologic fractures"},{"scope":"EXACT","text":"Spontaneous fracture"},{"scope":"RELATED","text":"Spontaneous fractures"}]} +{"alt_ids":["HP:0002660","HP:0002767","HP:0002809"],"definition":"The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).","id":"HP:0002757","name":"Recurrent fractures","obsolete":false,"parents":["HP:0002659"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Frequent fractures"},{"scope":"EXACT","text":"Increased fracture rate"},{"scope":"EXACT","text":"Increased fractures"},{"scope":"EXACT","text":"Multiple fractures"},{"scope":"EXACT","text":"Multiple spontaneous fractures"},{"scope":"EXACT","text":"Recurrent fractures"},{"scope":"EXACT","text":"Varying degree of multiple fractures"}]} +{"alt_ids":["HP:0001379","HP:0002824","HP:0005762"],"definition":"Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity.","id":"HP:0002758","name":"Osteoarthritis","obsolete":false,"parents":["HP:0001369"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Degenerative joint disease"}]} +{"alt_ids":[],"definition":"Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred.","id":"HP:0002761","name":"Generalized joint hypermobility","obsolete":false,"parents":["HP:0001382"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised joint laxity"},{"scope":"EXACT","text":"Generalized joint laxity"},{"scope":"EXACT","text":"Hypermobility of all joints"},{"scope":"RELATED","text":"Joint laxity, generalised"},{"scope":"RELATED","text":"Joint laxity, generalized"}]} +{"alt_ids":[],"definition":"Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.","id":"HP:0002762","name":"Multiple exostoses","obsolete":false,"parents":["HP:0100777"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0410007"],"definition":"Any morphological abnormality of cartilage.","id":"HP:0002763","name":"Abnormal cartilage morphology","obsolete":false,"parents":["HP:0011842"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of cartilage"},{"scope":"EXACT","text":"Abnormality of cartilage morphology"}]} +{"alt_ids":[],"definition":"Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints).","id":"HP:0002764","name":"Stippled chondral calcification","obsolete":false,"parents":["HP:0002832","HP:0100593"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0002766","name":"Relatively short spine","obsolete":false,"parents":["HP:0008518"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Relatively short spine"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002773","name":"obsolete Small vertebral bodies","obsolete":true,"parents":[],"replaced_by":["HP:0008479"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0002777","name":"Tracheal stenosis","obsolete":false,"parents":["HP:0002778"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrowing of windpipe"}]} +{"alt_ids":[],"definition":"A structural anomaly of the trachea.","id":"HP:0002778","name":"Abnormal tracheal morphology","obsolete":false,"parents":["HP:0005607"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal trachea morphology"},{"scope":"EXACT","text":"Abnormality of the trachea"},{"scope":"RELATED","text":"Tracheal disease"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002779","name":"Tracheomalacia","obsolete":false,"parents":["HP:0002778"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Floppy windpipe"}]} +{"alt_ids":[],"definition":"Weakness or softness of the cartilage in the walls of the bronchial tubes.","id":"HP:0002780","name":"Bronchomalacia","obsolete":false,"parents":["HP:0025426"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased resistance to the passage of air in the upper airway.","id":"HP:0002781","name":"Upper airway obstruction","obsolete":false,"parents":["HP:0006536"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Upper airway obstruction"}]} +{"alt_ids":["HP:0004884","HP:0005955"],"definition":"An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.","id":"HP:0002783","name":"Recurrent lower respiratory tract infections","obsolete":false,"parents":["HP:0002205"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic lung infections"},{"scope":"EXACT","text":"Lower respiratory tract infections"},{"scope":"EXACT","text":"Recurrent chest infections"}]} +{"alt_ids":[],"definition":"Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways.","id":"HP:0002786","name":"Tracheobronchomalacia","obsolete":false,"parents":["HP:0002779","HP:0002780"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Calcification (abnormal deposits of calcium) in the tracheal tissues.","id":"HP:0002787","name":"Tracheal calcification","obsolete":false,"parents":["HP:0002778","HP:0010766"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Calcification of the trachea"},{"scope":"EXACT","text":"Tracheal calcifications"},{"scope":"EXACT","text":"Tracheal ectopic calcification"}]} +{"alt_ids":["HP:0001740","HP:0002784"],"definition":"An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).","id":"HP:0002788","name":"Recurrent upper respiratory tract infections","obsolete":false,"parents":["HP:0001739","HP:0002205"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Frequent upper respiratory infections"},{"scope":"EXACT","text":"Frequent upper respiratory tract infections"},{"scope":"EXACT","text":"Recurrent URI"},{"scope":"EXACT","text":"Recurrent colds"},{"scope":"EXACT","text":"Recurrent upper respiratory and lower respiratory infections"},{"scope":"EXACT","text":"Recurrent upper respiratory infection"},{"scope":"EXACT","text":"Recurrent upper respiratory infections"},{"scope":"EXACT","text":"Upper respiratory tract infections"},{"scope":"EXACT","text":"Upper respiratory tract infections, recurrent"}]} +{"alt_ids":["HP:0002874","HP:0004346"],"definition":"Very rapid breathing.","id":"HP:0002789","name":"Tachypnea","obsolete":false,"parents":["HP:0002793"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased respiratory rate or depth of breathing"},{"scope":"EXACT","text":"Polypnea"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002790","name":"Neonatal breathing dysregulation","obsolete":false,"parents":["HP:0005957"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Impaired breathing in newborn"}]} +{"alt_ids":["HP:0004892"],"definition":"A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).","id":"HP:0002791","name":"Hypoventilation","obsolete":false,"parents":["HP:0002793"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Alveolar hypoventilation"},{"scope":"RELATED","text":"Respiratory depression"},{"scope":"EXACT","text":"Slow breathing"},{"scope":"EXACT","text":"Under breathing"}]} +{"alt_ids":[],"definition":"An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung.","id":"HP:0002792","name":"Reduced vital capacity","obsolete":false,"parents":["HP:0030878"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased vital capacity"}]} +{"alt_ids":[],"definition":"An anomaly of the rhythm or depth of breathing.","id":"HP:0002793","name":"Abnormal pattern of respiration","obsolete":false,"parents":["HP:0002795"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal pattern of respiration"},{"scope":"EXACT","text":"Abnormal respiratory patterns"},{"scope":"EXACT","text":"Unusual breathing patterns"}]} +{"alt_ids":["HP:0005952"],"definition":"Abnormal function of the respiratory system.","id":"HP:0002795","name":"Abnormal respiratory system physiology","obsolete":false,"parents":["HP:0002086"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal respiration"},{"scope":"EXACT","text":"Functional respiratory abnormality"},{"scope":"RELATED","text":"Impaired pulmonary function"},{"scope":"RELATED","text":"Respiratory problem"}]} +{"alt_ids":["HP:0010737"],"definition":"Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.","id":"HP:0002797","name":"Osteolysis","obsolete":false,"parents":["HP:0003330"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Breakdown of bone"},{"scope":"EXACT","text":"Increased bone resorption"},{"scope":"EXACT","text":"Osteolytic defects of bones"}]} +{"alt_ids":[],"definition":"One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.","id":"HP:0002803","name":"Congenital contracture","obsolete":false,"parents":["HP:0001371"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital joint contractures"},{"scope":"EXACT","text":"congenital contractures"}]} +{"alt_ids":["HP:0001389","HP:0001390","HP:0002759","HP:0005188","HP:0005663","HP:0005809","HP:0005859"],"definition":"Multiple congenital contractures in different body areas.","id":"HP:0002804","name":"Arthrogryposis multiplex congenita","obsolete":false,"parents":["HP:0002803"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Arthrogryposis"},{"scope":"EXACT","text":"Arthrogryposis multiplex"},{"scope":"EXACT","text":"Arthrogryposis, congenital"},{"scope":"EXACT","text":"Multiple congenital contractures"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002805","name":"Accelerated bone age after puberty","obsolete":false,"parents":["HP:0005616"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Accelerated bone age after puberty"}]} +{"alt_ids":["HP:0002769","HP:0003314"],"definition":"Exaggerated anterior convexity of the thoracic vertebral column.","id":"HP:0002808","name":"Kyphosis","obsolete":false,"parents":["HP:0010674"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gibbus deformity"},{"scope":"EXACT","text":"Hunched back"},{"scope":"EXACT","text":"Hyperkyphosis"},{"scope":"EXACT","text":"Round back"}]} +{"alt_ids":["HP:0005079"],"definition":null,"id":"HP:0002810","name":"Dumbbell-shaped metaphyses","obsolete":false,"parents":["HP:0000944"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dumbbell shaped metaphyses"},{"scope":"EXACT","text":"Dumbbell shaped metaphysis"},{"scope":"EXACT","text":"Dumbbell shaped wide portion of long bone"}]} +{"alt_ids":[],"definition":"Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.","id":"HP:0002812","name":"Coxa vara","obsolete":false,"parents":["HP:0003367"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality of bones of the arms or legs.","id":"HP:0002813","name":"Abnormal limb bone morphology","obsolete":false,"parents":["HP:0011844","HP:0040068"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of limb bone"},{"scope":"EXACT","text":"Abnormality of limb bone 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(incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle).","id":"HP:0002826","name":"Halberd-shaped pelvis","obsolete":false,"parents":["HP:0040163"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Halberd-shaped pelvis bone"}]} +{"alt_ids":["HP:0001375","HP:0008826"],"definition":"Displacement of the femur from its normal location in the hip joint.","id":"HP:0002827","name":"Hip dislocation","obsolete":false,"parents":["HP:0001384","HP:0030311"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dislocated femoral heads"},{"scope":"EXACT","text":"Dislocated hips"},{"scope":"EXACT","text":"Dislocation of hip"},{"scope":"EXACT","text":"Dislocation of the femoral head"},{"scope":"EXACT","text":"Hip dislocation"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002828","name":"Multiple joint 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hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping.","id":"HP:0002833","name":"Cystic angiomatosis of bone","obsolete":false,"parents":["HP:0012062"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lytic cystic lesions in appendicular bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002834","name":"Flared femoral metaphysis","obsolete":false,"parents":["HP:0006489","HP:0030307"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flared metaphysis of thigh bone"}]} +{"alt_ids":[],"definition":"Inspiration of a foreign object into the airway.","id":"HP:0002835","name":"Aspiration","obsolete":false,"parents":["HP:0002795"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Pulmonary aspiration"}]} +{"alt_ids":[],"definition":"Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall.","id":"HP:0002836","name":"Bladder exstrophy","obsolete":false,"parents":["HP:0025487","HP:0100548"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ectopia vesicae"}]} +{"alt_ids":["HP:0002785"],"definition":"An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.","id":"HP:0002837","name":"Recurrent bronchitis","obsolete":false,"parents":["HP:0002783","HP:0012387","HP:0025426"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bronchitis, recurrent"}]} +{"alt_ids":["HP:0000018"],"definition":"Abnormal function of a sphincter of the urinary bladder.","id":"HP:0002839","name":"Urinary bladder sphincter dysfunction","obsolete":false,"parents":["HP:0000009"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sphincter disturbance"},{"scope":"EXACT","text":"Sphincter disturbances"}]} +{"alt_ids":[],"definition":"Inflammation of a lymph node.","id":"HP:0002840","name":"Lymphadenitis","obsolete":false,"parents":["HP:0002733","HP:0012649"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inflammation of the lymph nodes"}]} +{"alt_ids":["HP:0005350","HP:0005380","HP:0005388"],"definition":"Increased susceptibility to fungal infections as manifested by multiple episodes of fungal infection.","id":"HP:0002841","name":"Recurrent fungal infections","obsolete":false,"parents":["HP:0002719","HP:0020100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent fungal infections"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002842","name":"Recurrent Burkholderia cepacia infection","obsolete":false,"parents":["HP:0005420","HP:5210079"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic Burkholderia cepacia infection"},{"scope":"EXACT","text":"Persistent Burkholderia cepacia infection"},{"scope":"EXACT","text":"Recurrent Burkholderia cepacia infections"}]} +{"alt_ids":["HP:0002734","HP:0030332","HP:0030333"],"definition":"Abnormal increase or decrease of total or subset T cell count. 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It is related to the relaxation of muscle tone that typically happens during sleep, leading to a partial collapse of the soft tissues in the airway and causing airflow obstruction.","id":"HP:0002870","name":"Obstructive sleep apnea","obsolete":false,"parents":["HP:0010535"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Obstructive sleep apnoea"}]} +{"alt_ids":[],"definition":"Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.","id":"HP:0002871","name":"Central apnea","obsolete":false,"parents":["HP:0002104"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Central apnoea"}]} +{"alt_ids":[],"definition":"Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress.","id":"HP:0002872","name":"Apneic episodes precipitated by illness, fatigue, stress","obsolete":false,"parents":["HP:0002104"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Episodic apnea induced by febrile illness or stress"}]} +{"alt_ids":[],"definition":"Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.","id":"HP:0002875","name":"Exertional dyspnea","obsolete":false,"parents":["HP:0002094"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Exertional breathlessness"},{"scope":"EXACT","text":"Exertional dyspnoea"},{"scope":"EXACT","text":"Shortness of breathing upon physical activity"}]} +{"alt_ids":["HP:0002881"],"definition":"Episodes of very rapid breathing.","id":"HP:0002876","name":"Episodic tachypnea","obsolete":false,"parents":["HP:0002789"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperpnea, episodic"}]} +{"alt_ids":[],"definition":"An abnormal reduction in alveolar ventilation occurring during sleep. This is characterized by a rise in arterial carbon dioxide.","id":"HP:0002877","name":"Nocturnal hypoventilation","obsolete":false,"parents":["HP:0002791"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoventilation during sleep"},{"scope":"EXACT","text":"Nocturnal hypopnea"},{"scope":"EXACT","text":"Nocturnal slow breathing"},{"scope":"EXACT","text":"Nocturnal under breathing"}]} +{"alt_ids":["HP:0004877"],"definition":"A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.","id":"HP:0002878","name":"Respiratory failure","obsolete":false,"parents":["HP:0002093"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Respiratory failure"}]} +{"alt_ids":[],"definition":"Abnormally increased variability of the size of the vertebral bodies.","id":"HP:0002879","name":"Anisospondyly","obsolete":false,"parents":["HP:0003312"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0002880","name":"obsolete Respiratory difficulties","obsolete":true,"parents":[],"replaced_by":["HP:0002098"],"synonyms":[]} +{"alt_ids":[],"definition":"Recurrent bouts of sudden, severe apnea that may be life-threatening.","id":"HP:0002882","name":"Sudden episodic apnea","obsolete":false,"parents":["HP:0002104"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.","id":"HP:0002883","name":"Hyperventilation","obsolete":false,"parents":["HP:0002793"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rapid breathing"}]} +{"alt_ids":[],"definition":"A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.","id":"HP:0002884","name":"Hepatoblastoma","obsolete":false,"parents":["HP:0002896","HP:0002898"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. 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cancer"},{"scope":"EXACT","text":"Liver tumor"},{"scope":"EXACT","text":"Liver tumour"}]} +{"alt_ids":["HP:0008257"],"definition":"A benign tumor of the parathyroid gland that can cause hyperparathyroidism.","id":"HP:0002897","name":"Parathyroid adenoma","obsolete":false,"parents":["HP:0100733"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Parathyroid adenomas"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002898","name":"Embryonal neoplasm","obsolete":false,"parents":["HP:0011792"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Embryonal neoplasia"},{"scope":"EXACT","text":"Embryonal tumors"},{"scope":"EXACT","text":"Embryonal tumours"}]} +{"alt_ids":[],"definition":"The concentration of potassium(1+) in the blood circulation is below the lower limit of normal.","id":"HP:0002900","name":"Hypokalemia","obsolete":false,"parents":["HP:0011042"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased potassium(1+) concentration"},{"scope":"EXACT","text":"Decreased potassium(1+) level"},{"scope":"EXACT","text":"Decreased potassium(1+) level in blood"},{"scope":"EXACT","text":"Low blood potassium levels"},{"scope":"EXACT","text":"Reduced potassium(1+) concentration"},{"scope":"EXACT","text":"Reduced potassium(1+) level"},{"scope":"EXACT","text":"Reduced potassium(1+) level in blood"}]} +{"alt_ids":[],"definition":"The concentration of calcium in the blood circulation is below the lower limit of normal.","id":"HP:0002901","name":"Hypocalcemia","obsolete":false,"parents":["HP:0004363"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased calcium(2+) concentration"},{"scope":"EXACT","text":"Decreased calcium(2+) level"},{"scope":"EXACT","text":"Decreased calcium(2+) level in blood"},{"scope":"EXACT","text":"Hypocalcaemia"},{"scope":"EXACT","text":"Low blood calcium levels"},{"scope":"EXACT","text":"Reduced calcium(2+) concentration"},{"scope":"EXACT","text":"Reduced calcium(2+) level"},{"scope":"EXACT","text":"Reduced calcium(2+) level in blood"}]} +{"alt_ids":[],"definition":"The concentration of sodium in the blood circulation is below the lower limit of normal.","id":"HP:0002902","name":"Hyponatremia","obsolete":false,"parents":["HP:0010931"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased sodium(1+) concentration"},{"scope":"EXACT","text":"Decreased sodium(1+) level"},{"scope":"EXACT","text":"Decreased sodium(1+) level in blood"},{"scope":"EXACT","text":"Low blood sodium levels"},{"scope":"EXACT","text":"Reduced sodium(1+) concentration"},{"scope":"EXACT","text":"Reduced sodium(1+) level"},{"scope":"EXACT","text":"Reduced sodium(1+) level in blood"}]} +{"alt_ids":[],"definition":"An increased amount of bilirubin in the blood.","id":"HP:0002904","name":"Hyperbilirubinemia","obsolete":false,"parents":["HP:0033479"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High blood bilirubin levels"}]} +{"alt_ids":[],"definition":"The concentration of phosphate ion in the blood circulation is above the upper limit of normal.","id":"HP:0002905","name":"Hyperphosphatemia","obsolete":false,"parents":["HP:0100529"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated phosphate ion concentration"},{"scope":"EXACT","text":"Elevated phosphate ion level"},{"scope":"EXACT","text":"Elevated phosphate ion level in blood"},{"scope":"EXACT","text":"High blood phosphate levels"},{"scope":"EXACT","text":"Increased phosphate ion concentration"},{"scope":"EXACT","text":"Increased phosphate ion level"},{"scope":"EXACT","text":"Increased phosphate ion level in blood"}]} +{"alt_ids":[],"definition":"Microscopic hematuria detected by dipstick or microscopic examination of the urine.","id":"HP:0002907","name":"Microscopic hematuria","obsolete":false,"parents":["HP:0000790"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Microhematuria"},{"scope":"EXACT","text":"Occult hematuria"},{"scope":"EXACT","text":"Small amount of blood in urine"}]} +{"alt_ids":["HP:0008351"],"definition":null,"id":"HP:0002908","name":"Conjugated hyperbilirubinemia","obsolete":false,"parents":["HP:0002904"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Direct hyperbilirubinemia"}]} +{"alt_ids":["HP:0008284","HP:0008317"],"definition":"An increased concentration of all types of amino acid in the urine.","id":"HP:0002909","name":"Generalized aminoaciduria","obsolete":false,"parents":["HP:0003355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised aminoaciduria"},{"scope":"EXACT","text":"Generalised nonspecific aminoaciduria"},{"scope":"EXACT","text":"Generalized nonspecific aminoaciduria"}]} +{"alt_ids":["HP:0001411","HP:0003143","HP:0003156","HP:0003293","HP:0006567","HP:0006578","HP:0008267","HP:0008342"],"definition":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","id":"HP:0002910","name":"Elevated circulating hepatic transaminase concentration","obsolete":false,"parents":["HP:0430135"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal liver enzymes"},{"scope":"EXACT","text":"Abnormal liver function"},{"scope":"EXACT","text":"Abnormal liver function tests"},{"scope":"EXACT","text":"Elevated circulating hepatic transaminase activity"},{"scope":"EXACT","text":"Elevated liver enzymes"},{"scope":"RELATED","text":"Elevated liver function tests"},{"scope":"EXACT","text":"Elevated serum transaminases"},{"scope":"EXACT","text":"Elevated transaminases"},{"scope":"EXACT","text":"High liver enzymes"},{"scope":"EXACT","text":"Increased liver enzymes"},{"scope":"EXACT","text":"Increased liver function tests"},{"scope":"EXACT","text":"Increased transaminases"},{"scope":"EXACT","text":"Raised liver enzymes"},{"scope":"EXACT","text":"Subclinical abnormal liver function tests"}]} +{"alt_ids":["HP:0003123","HP:0008295"],"definition":"The concentration of methylmalonic acid in the blood circulation is above the upper limit of normal.","id":"HP:0002912","name":"Methylmalonic acidemia","obsolete":false,"parents":["HP:0040145"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating methylmalonic acid concentration"},{"scope":"EXACT","text":"Elevated methylmalonic acid concentration"},{"scope":"EXACT","text":"Elevated methylmalonic acid level"},{"scope":"EXACT","text":"Elevated methylmalonic acid level in blood"},{"scope":"EXACT","text":"Increased methylmalonic acid concentration"},{"scope":"EXACT","text":"Increased methylmalonic acid level"},{"scope":"EXACT","text":"Increased methylmalonic acid level in blood"}]} +{"alt_ids":[],"definition":"Presence of myoglobin in the urine.","id":"HP:0002913","name":"Myoglobinuria","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of chloride in the urine.","id":"HP:0002914","name":"Hyperchloriduria","obsolete":false,"parents":["HP:0012600"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased urinary chloride"}]} +{"alt_ids":[],"definition":"An abnormality of chromosome segregation.","id":"HP:0002916","name":"Abnormality of chromosome segregation","obsolete":false,"parents":["HP:0011017"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003284"],"definition":"The concentration of magnesium in the blood circulation is below the lower limit of normal.","id":"HP:0002917","name":"Hypomagnesemia","obsolete":false,"parents":["HP:0004921"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased magnesium(2+) concentration"},{"scope":"EXACT","text":"Decreased magnesium(2+) level"},{"scope":"EXACT","text":"Decreased magnesium(2+) level in blood"},{"scope":"EXACT","text":"Low blood Mg levels"},{"scope":"EXACT","text":"Low blood magnesium levels"},{"scope":"EXACT","text":"Reduced magnesium(2+) concentration"},{"scope":"EXACT","text":"Reduced magnesium(2+) level"},{"scope":"EXACT","text":"Reduced magnesium(2+) level in blood"}]} +{"alt_ids":[],"definition":"The concentration of magnesium in the blood circulation is above the upper limit of normal.","id":"HP:0002918","name":"Hypermagnesemia","obsolete":false,"parents":["HP:0004921"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated magnesium(2+) concentration"},{"scope":"EXACT","text":"Elevated magnesium(2+) level"},{"scope":"EXACT","text":"Elevated magnesium(2+) level in blood"},{"scope":"EXACT","text":"High blood Mg levels"},{"scope":"EXACT","text":"High blood magnesium levels"},{"scope":"EXACT","text":"Increased magnesium(2+) concentration"},{"scope":"EXACT","text":"Increased magnesium(2+) level"},{"scope":"EXACT","text":"Increased magnesium(2+) level in blood"}]} +{"alt_ids":[],"definition":"High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.","id":"HP:0002919","name":"Ketonuria","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Acetonuria"},{"scope":"RELATED","text":"Ketoaciduria"},{"scope":"EXACT","text":"Ketonaciduria"},{"scope":"EXACT","text":"Ketone bodies in urine"}]} +{"alt_ids":[],"definition":"The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation.","id":"HP:0002920","name":"Decreased circulating ACTH concentration","obsolete":false,"parents":["HP:0011043"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the cerebrospinal fluid (CSF).","id":"HP:0002921","name":"Abnormal cerebrospinal fluid morphology","obsolete":false,"parents":["HP:0002011"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal CSF findings"},{"scope":"EXACT","text":"Abnormality of the CSF"},{"scope":"EXACT","text":"Abnormality of the cerebrospinal fluid"}]} +{"alt_ids":[],"definition":"Increased concentration of protein in the cerebrospinal fluid.","id":"HP:0002922","name":"Increased CSF protein concentration","obsolete":false,"parents":["HP:0025456"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cerebrospinal fluid protein increased"},{"scope":"EXACT","text":"Cerebrospinal fluid with increased protein"},{"scope":"EXACT","text":"Elevated cerebrospinal fluid protein"},{"scope":"EXACT","text":"Elevated csf protein"},{"scope":"EXACT","text":"Hyperproteinorrhachia"},{"scope":"EXACT","text":"Increased CSF protein"},{"scope":"EXACT","text":"Increased protein in csf"},{"scope":"EXACT","text":"Spinal fluid protein elevated"}]} +{"alt_ids":[],"definition":"The presence in the serum of an autoantibody directed against the Fc portion of IgG.","id":"HP:0002923","name":"Rheumatoid factor positive","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0002924","name":"obsolete Decreased circulating aldosterone level","obsolete":true,"parents":[],"replaced_by":["HP:0004319"],"synonyms":[]} +{"alt_ids":[],"definition":"Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.","id":"HP:0002925","name":"Elevated circulating thyroid-stimulating hormone concentration","obsolete":false,"parents":["HP:0031097"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated thyroid stimulating hormone"},{"scope":"EXACT","text":"Elevated thyroid stimulating hormone levels"},{"scope":"EXACT","text":"High TSH"},{"scope":"EXACT","text":"Increased serum thyroid-stimulating hormone"},{"scope":"EXACT","text":"Increased thyroid-stimulating hormone"},{"scope":"EXACT","text":"Increased thyroid-stimulating hormone level"},{"scope":"EXACT","text":"Increased thyrotropin level"},{"scope":"EXACT","text":"TSH excess"},{"scope":"EXACT","text":"Thyroid-stimulating hormone excess"}]} +{"alt_ids":[],"definition":"An abnormal functionality of the thyroid gland.","id":"HP:0002926","name":"Abnormality of thyroid physiology","obsolete":false,"parents":["HP:0000820"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal thyroid function"}]} +{"alt_ids":[],"definition":"An increased concentration of histidine in the urine.","id":"HP:0002927","name":"Histidinuria","obsolete":false,"parents":["HP:0033100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated histidine in urine"},{"scope":"EXACT","text":"High urine histidine levels"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002928","name":"Decreased activity of the pyruvate dehydrogenase complex","obsolete":false,"parents":["HP:0003287"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased activity of the PDH complex"},{"scope":"EXACT","text":"Pyruvate dehydrogenase complex deficiency"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002929","name":"Leydig cell insensitivity to gonadotropin","obsolete":false,"parents":["HP:0008373"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008215","HP:0008243","HP:0008262"],"definition":"Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone.","id":"HP:0002930","name":"Impaired sensitivity to thyroid hormone","obsolete":false,"parents":["HP:0002926"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated serum levels of free thyroid hormone with nonsuppressed TSH"},{"scope":"EXACT","text":"End-organ unresponsiveness to thyroid hormone"},{"scope":"EXACT","text":"Resistance to thyroid hormone"},{"scope":"EXACT","text":"Thyroid hormone receptor defect"},{"scope":"EXACT","text":"Thyroid hormone resistance"}]} +{"alt_ids":[],"definition":"A reduction in aldehyde oxidase level.","id":"HP:0002932","name":"Aldehyde oxidase deficiency","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall.","id":"HP:0002933","name":"Ventral hernia","obsolete":false,"parents":["HP:0004299"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003476","HP:0006843","HP:0006845","HP:0006922","HP:0006971","HP:0006993","HP:0007138","HP:0007292","HP:0007296"],"definition":"An abnormal reduction in sensation in the distal portions of the extremities.","id":"HP:0002936","name":"Distal sensory impairment","obsolete":false,"parents":["HP:0003474"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased distal sensation"},{"scope":"EXACT","text":"Decreased sensation in extremities"},{"scope":"EXACT","text":"Distal sensation loss"},{"scope":"EXACT","text":"Distal sensory impairment in lower limbs"},{"scope":"EXACT","text":"Distal sensory impairment of the lower extremities"},{"scope":"EXACT","text":"Distal sensory loss"},{"scope":"EXACT","text":"Distal sensory loss, upper and lower limbs"},{"scope":"EXACT","text":"Loss of distal sensation"}]} +{"alt_ids":[],"definition":"Absence of one half of the vertebral body.","id":"HP:0002937","name":"Hemivertebrae","obsolete":false,"parents":["HP:0003312","HP:0003422"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hemi-vertebrae"},{"scope":"EXACT","text":"Hemivertebra"},{"scope":"EXACT","text":"Missing part of vertebrae"}]} +{"alt_ids":["HP:0002941","HP:0004560","HP:0004574","HP:0004596"],"definition":"An abnormal accentuation of the inward curvature of the spine in the lumbar region.","id":"HP:0002938","name":"Lumbar hyperlordosis","obsolete":false,"parents":["HP:0003307"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Exaggerated lumbar lordosis"},{"scope":"EXACT","text":"Excessive inward curvature of lower spine"},{"scope":"EXACT","text":"Increased lumbar lordosis"},{"scope":"EXACT","text":"Lumbar lordosis"},{"scope":"EXACT","text":"Prominent lumbar lordosis"}]} +{"alt_ids":[],"definition":"Over curvature of the thoracic region, leading to a round back or if sever to a hump.","id":"HP:0002942","name":"Thoracic kyphosis","obsolete":false,"parents":["HP:0002808","HP:0100711"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Accentuated thoracic kyphosis"},{"scope":"EXACT","text":"Exaggerated thoracic kyphosis"}]} +{"alt_ids":["HP:0004615"],"definition":null,"id":"HP:0002943","name":"Thoracic scoliosis","obsolete":false,"parents":["HP:0002650","HP:0100711"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004567","HP:0004585"],"definition":null,"id":"HP:0002944","name":"Thoracolumbar scoliosis","obsolete":false,"parents":["HP:0002650"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Scoliosis, thoracolumbar"}]} +{"alt_ids":[],"definition":"Decreased height of the intervertebral disk.","id":"HP:0002945","name":"Intervertebral space narrowing","obsolete":false,"parents":["HP:0005108"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrow intervertebral disc spaces"},{"scope":"EXACT","text":"Narrow intervertebral disk spaces"},{"scope":"EXACT","text":"Narrow intervertebral spaces"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002946","name":"Supernumerary vertebrae","obsolete":false,"parents":["HP:0009144","HP:0030304"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.","id":"HP:0002947","name":"Cervical kyphosis","obsolete":false,"parents":["HP:0002808","HP:0005905"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rounded neck"}]} +{"alt_ids":["HP:0002807","HP:0008471","HP:0008485"],"definition":"A developmental defect leading to the union of two adjacent vertebrae.","id":"HP:0002948","name":"Vertebral fusion","obsolete":false,"parents":["HP:0003422","HP:0100240"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital spinal fusion"},{"scope":"EXACT","text":"Congenitally fused vertebrae"},{"scope":"EXACT","text":"Fusion of vertebral bodies"},{"scope":"EXACT","text":"Vertebral body fusion"}]} +{"alt_ids":[],"definition":"A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.","id":"HP:0002949","name":"Fused cervical vertebrae","obsolete":false,"parents":["HP:0002948"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cervical spine fusion"},{"scope":"EXACT","text":"Cervical vertebral fusion"},{"scope":"EXACT","text":"Fused neck"},{"scope":"EXACT","text":"Fusion of cervical vertebrae"}]} +{"alt_ids":[],"definition":"Congenital absence of a part of the vermis of cerebellum.","id":"HP:0002951","name":"Partial absence of cerebellar vermis","obsolete":false,"parents":["HP:0006817"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0002953","name":"Vertebral compression fracture","obsolete":false,"parents":["HP:0003468"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Compression fracture of a vertebral body"},{"scope":"EXACT","text":"Fractures of vertebral bodies"},{"scope":"EXACT","text":"Vertebral body compression"},{"scope":"EXACT","text":"Vertebral collapse"},{"scope":"EXACT","text":"Vertebral compression"},{"scope":"EXACT","text":"Vertebral compression fractures"},{"scope":"EXACT","text":"Vertebral compression or collapse"}]} +{"alt_ids":[],"definition":"A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity.","id":"HP:0002955","name":"Granulomatosis","obsolete":false,"parents":["HP:0004311"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications.","id":"HP:0002958","name":"Immune dysregulation","obsolete":false,"parents":["HP:0010978"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Immune dysregulation"},{"scope":"EXACT","text":"Unregulated immune response"}]} +{"alt_ids":[],"definition":"An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE.","id":"HP:0002959","name":"Impaired Ig class switch recombination","obsolete":false,"parents":["HP:0005372"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Impaired B-lymphocyte isotype switching"}]} +{"alt_ids":[],"definition":"The occurrence of an immune reaction against the organism's own cells or tissues.","id":"HP:0002960","name":"Autoimmunity","obsolete":false,"parents":["HP:0010978"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Autoimmune condition"},{"scope":"EXACT","text":"Autoimmune disease"},{"scope":"EXACT","text":"Autoimmune disorder"},{"scope":"EXACT","text":"Autoimmunity"}]} +{"alt_ids":[],"definition":null,"id":"HP:0002961","name":"obsolete Dysgammaglobulinemia","obsolete":true,"parents":[],"replaced_by":["HP:0010701"],"synonyms":[]} +{"alt_ids":[],"definition":"Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter.","id":"HP:0002963","name":"Abnormal delayed hypersensitivity skin test","obsolete":false,"parents":["HP:0011840"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005427"],"definition":"Inability to react to a delayed hypersensitivity skin test.","id":"HP:0002965","name":"Cutaneous anergy","obsolete":false,"parents":["HP:0002963"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of delayed hypersensitivity skin test"},{"scope":"EXACT","text":"Lack of delayed skin hypersensitivity reaction"}]} +{"alt_ids":[],"definition":"Abnormal positioning in which the elbows are turned out.","id":"HP:0002967","name":"Cubitus valgus","obsolete":false,"parents":["HP:0020300"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Outward turned elbows"}]} +{"alt_ids":["HP:0003052"],"definition":"A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.","id":"HP:0002970","name":"Genu varum","obsolete":false,"parents":["HP:0002979","HP:0034669"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Genu vara"},{"scope":"EXACT","text":"Genua vara"},{"scope":"EXACT","text":"Outward bow-leggedness"},{"scope":"EXACT","text":"Outward bowing at knees"}]} +{"alt_ids":[],"definition":"Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes.","id":"HP:0002971","name":"Absent microvilli on the surface of peripheral blood lymphocytes","obsolete":false,"parents":["HP:0004332"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005434"],"definition":"Decreased ability to react to a delayed hypersensitivity skin test.","id":"HP:0002972","name":"Reduced delayed hypersensitivity","obsolete":false,"parents":["HP:0002963"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased reactivity to skin test antigens"},{"scope":"EXACT","text":"Deficiency of delayed skin hypersensitivity"},{"scope":"EXACT","text":"Impaired delayed hypersensitivity"}]} +{"alt_ids":[],"definition":"An abnormality of the lower arm.","id":"HP:0002973","name":"Abnormal forearm morphology","obsolete":false,"parents":["HP:0002817"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the forearm"}]} +{"alt_ids":["HP:0003962"],"definition":"An abnormal osseous union (fusion) between the radius and the ulna.","id":"HP:0002974","name":"Radioulnar synostosis","obsolete":false,"parents":["HP:0002818","HP:0040071","HP:0100238"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused forearm bones"}]} +{"alt_ids":["HP:0001323"],"definition":"Absence or underdevelopment of tissue in the central nervous system.","id":"HP:0002977","name":"Aplasia/Hypoplasia involving the central nervous system","obsolete":false,"parents":["HP:0002011"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/underdeveloped central nervous system tissue"},{"scope":"EXACT","text":"Aplasia/Hypoplasia involving the CNS"}]} +{"alt_ids":["HP:0006428"],"definition":"A bending or abnormal curvature affecting a long bone of the leg.","id":"HP:0002979","name":"Bowing of the legs","obsolete":false,"parents":["HP:0002981","HP:0006487"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bow legs"},{"scope":"EXACT","text":"Bow-leggedness"},{"scope":"EXACT","text":"Bowed legs"},{"scope":"EXACT","text":"Bowed lower limbs"}]} +{"alt_ids":["HP:0004998"],"definition":"Bowing (abnormal curvature) of the femur.","id":"HP:0002980","name":"Femoral bowing","obsolete":false,"parents":["HP:0002823","HP:0002979"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bowed femur"},{"scope":"EXACT","text":"Bowed femura"},{"scope":"EXACT","text":"Bowed femurs"},{"scope":"EXACT","text":"Bowed thighbone"}]} +{"alt_ids":[],"definition":"An abnormality of the calf, i.e. of the posterior part of the lower leg.","id":"HP:0002981","name":"Abnormality of the calf","obsolete":false,"parents":["HP:0002814"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the calf"}]} +{"alt_ids":["HP:0006363"],"definition":"A bending or abnormal curvature of the tibia.","id":"HP:0002982","name":"Tibial bowing","obsolete":false,"parents":["HP:0002979","HP:0002992"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bowed shankbone"},{"scope":"EXACT","text":"Bowed shinbone"},{"scope":"EXACT","text":"Bowed tibia"},{"scope":"EXACT","text":"Bowing of the tibia"}]} +{"alt_ids":["HP:0003030","HP:0005753"],"definition":"The presence of abnormally small extremities.","id":"HP:0002983","name":"Micromelia","obsolete":false,"parents":["HP:0009826"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Smaller or shorter than typical limbs"}]} +{"alt_ids":["HP:0002995","HP:0004989","HP:0005014","HP:0005081","HP:0005714","HP:0006418"],"definition":"Underdevelopment of the radius.","id":"HP:0002984","name":"Hypoplasia of the radius","obsolete":false,"parents":["HP:0006501","HP:0009821"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic radii"},{"scope":"EXACT","text":"Hypoplastic radius"},{"scope":"EXACT","text":"Radial hypoplasia"},{"scope":"RELATED","text":"Radial ray hypoplasia"},{"scope":"EXACT","text":"Short radii"},{"scope":"EXACT","text":"Short radius"},{"scope":"EXACT","text":"Shortening of radius"},{"scope":"EXACT","text":"Underdeveloped outer large forearm bone"}]} +{"alt_ids":["HP:0004996"],"definition":"A bending or abnormal curvature of the radius.","id":"HP:0002986","name":"Radial bowing","obsolete":false,"parents":["HP:0003956","HP:0045008"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bowed radii"},{"scope":"EXACT","text":"Bowed radius"},{"scope":"EXACT","text":"Bowing of outer large bone of the forearm"},{"scope":"EXACT","text":"Bowing of radius bone of the forearm"}]} +{"alt_ids":["HP:0003937","HP:0004984","HP:0005654"],"definition":"An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.","id":"HP:0002987","name":"Elbow flexion contracture","obsolete":false,"parents":["HP:0002996","HP:0034391"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elbow flexion contractures"},{"scope":"EXACT","text":"Elbow flexion deformity"},{"scope":"EXACT","text":"Fixed flexion at the elbow joint"}]} +{"alt_ids":["HP:0006373"],"definition":"Absence of the fibula.","id":"HP:0002990","name":"Fibular aplasia","obsolete":false,"parents":["HP:0006492"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent calf bone"},{"scope":"EXACT","text":"Absent fibulae"},{"scope":"EXACT","text":"Absent-hypoplastic fibulae"}]} +{"alt_ids":[],"definition":"An anomaly of the calf bone (fibula), one of the two bones of the calf.","id":"HP:0002991","name":"Abnormal fibula 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Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum.","id":"HP:0003006","name":"Neuroblastoma","obsolete":false,"parents":["HP:0004376","HP:0030067"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cancer of early nerve cells"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003009","name":"Enhanced neurotoxicity of vincristine","obsolete":false,"parents":["HP:0000759"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008294","HP:0008337"],"definition":"Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.","id":"HP:0003010","name":"Prolonged bleeding time","obsolete":false,"parents":["HP:0001892"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bleeding time"},{"scope":"EXACT","text":"Prolonged bleeding time"}]} +{"alt_ids":["HP:0003197","HP:0003708","HP:0040290"],"definition":"Abnormality originating in one or more muscles, i.e., of the set of muscles of 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bone"},{"scope":"EXACT","text":"Short fibula"},{"scope":"EXACT","text":"Short fibulae"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003040","name":"Arthropathy","obsolete":false,"parents":["HP:0001367"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disease of the joints"}]} +{"alt_ids":["HP:0003936"],"definition":"An abnormal osseous union (fusion) between the radius and the humerus.","id":"HP:0003041","name":"Humeroradial synostosis","obsolete":false,"parents":["HP:0002818","HP:0003938","HP:0031095","HP:0100744"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fusion of upper and lower arm bones"},{"scope":"EXACT","text":"Humeral radial synostosis"},{"scope":"EXACT","text":"Humeral-radial synostosis"},{"scope":"EXACT","text":"Radiohumeral synostosis of elbow"},{"scope":"EXACT","text":"Synostosis of radius and humerus"}]} +{"alt_ids":["HP:0006411"],"definition":"Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus 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movement.","id":"HP:0003044","name":"Shoulder flexion contracture","obsolete":false,"parents":["HP:0034665"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormality of the patella (knee cap).","id":"HP:0003045","name":"Abnormal patella morphology","obsolete":false,"parents":["HP:0034669"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal kneecap"},{"scope":"EXACT","text":"Abnormality of the patella"},{"scope":"EXACT","text":"Patellar abnormality"}]} +{"alt_ids":[],"definition":"Partial dislocation of the head of the radius.","id":"HP:0003048","name":"Radial head subluxation","obsolete":false,"parents":["HP:0032153"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Radial subluxation"},{"scope":"EXACT","text":"Radial-head subluxation"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003049","name":"Ulnar deviation of the wrist","obsolete":false,"parents":["HP:0025798"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ulnar deviation of wrists"}]} 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This leads to shortening of the radius and relative overgrowth of the ulna.","id":"HP:0003067","name":"Madelung deformity","obsolete":false,"parents":["HP:0025798"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Madelung wrist deformity"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003068","name":"Madelung-like forearm deformities","obsolete":false,"parents":["HP:0002818"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003070","name":"Elbow ankylosis","obsolete":false,"parents":["HP:0020300","HP:0031013"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004982","HP:0005051","HP:0005076","HP:0005080"],"definition":"Abnormal flatness (decreased height) of epiphyses.","id":"HP:0003071","name":"Flattened epiphysis","obsolete":false,"parents":["HP:0005930"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flat end part of bone"},{"scope":"EXACT","text":"Flat epiphyses"}]} +{"alt_ids":["HP:0008250"],"definition":"The concentration of calcium in the 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blood.","id":"HP:0003075","name":"Hypoproteinemia","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased protein levels in blood"}]} +{"alt_ids":["HP:0003122","HP:0011016"],"definition":"An increased concentration of glucose in the urine.","id":"HP:0003076","name":"Glycosuria","obsolete":false,"parents":["HP:6000531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Glucose in urine"},{"scope":"EXACT","text":"Glucosuria"}]} +{"alt_ids":["HP:0008159","HP:0008356"],"definition":"The concentration of lipid in the blood circulation is above the upper limit of normal.","id":"HP:0003077","name":"Hyperlipidemia","obsolete":false,"parents":["HP:0003119"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated lipid concentration"},{"scope":"EXACT","text":"Elevated lipid level"},{"scope":"EXACT","text":"Elevated lipid level in blood"},{"scope":"EXACT","text":"Elevated lipids in blood"},{"scope":"EXACT","text":"Increased lipid concentration"},{"scope":"EXACT","text":"Increased lipid level"},{"scope":"EXACT","text":"Increased lipid level in blood"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003079","name":"Defective DNA repair after ultraviolet radiation damage","obsolete":false,"parents":["HP:0003254"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of 4-hydroxy-L-proline in the urine.","id":"HP:0003080","name":"Hydroxyprolinuria","obsolete":false,"parents":["HP:0033098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urinary hydroxyproline"}]} +{"alt_ids":[],"definition":"An increased concentration of potassium(1+) in the urine.","id":"HP:0003081","name":"Increased urinary potassium","obsolete":false,"parents":["HP:0012598"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperkaliuresis"},{"scope":"EXACT","text":"Increased urinary K"},{"scope":"EXACT","text":"Increased urinary potassium"}]} 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+{"alt_ids":[],"definition":null,"id":"HP:0003089","name":"Hamstring contractures","obsolete":false,"parents":["HP:0005750"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hamstring contractures"}]} +{"alt_ids":["HP:0003374","HP:0008791","HP:0008792"],"definition":"Underdevelopment of the proximal epiphysis of the femur.","id":"HP:0003090","name":"Hypoplasia of the capital femoral epiphysis","obsolete":false,"parents":["HP:0005003"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small capital femoral epiphyses"},{"scope":"EXACT","text":"Small femoral capital epiphyses"},{"scope":"EXACT","text":"Small innermost thighbone end part"},{"scope":"EXACT","text":"Small proximal femoral epiphyses"},{"scope":"EXACT","text":"Underdevelopment of the innermost thighbone end part"}]} +{"alt_ids":[],"definition":"Trophic changes occurring in a limb.","id":"HP:0003091","name":"Trophic limb changes","obsolete":false,"parents":["HP:0010834"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008810"],"definition":"Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward.","id":"HP:0003093","name":"Limited hip extension","obsolete":false,"parents":["HP:0008800"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Limited hip extension"},{"scope":"EXACT","text":"Restricted hip extension"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003095","name":"Septic arthritis","obsolete":false,"parents":["HP:0001369"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Infected joint"}]} +{"alt_ids":["HP:0009749"],"definition":"An abnormal shortening of the femur.","id":"HP:0003097","name":"Short femur","obsolete":false,"parents":["HP:0003026","HP:0005613"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Femoral hypoplasia"},{"scope":"EXACT","text":"Hypoplasia of the femora"},{"scope":"EXACT","text":"Short femurs"},{"scope":"EXACT","text":"Short thighbone"}]} +{"alt_ids":[],"definition":"Relatively increased growth of the fibula compared to that of the tibia.","id":"HP:0003099","name":"Fibular overgrowth","obsolete":false,"parents":["HP:0002991"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Overgrowth of calf bone"}]} +{"alt_ids":["HP:0003060","HP:0003061","HP:0003096","HP:0005064"],"definition":"Reduced diameter of a long bone.","id":"HP:0003100","name":"Slender long bone","obsolete":false,"parents":["HP:0011314"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gracile long bones"},{"scope":"EXACT","text":"Long bones slender"},{"scope":"EXACT","text":"Slender long bone"},{"scope":"RELATED","text":"Slender long bones"},{"scope":"EXACT","text":"Slender, gracile long tubular bones"},{"scope":"RELATED","text":"Thin gracile long bones"},{"scope":"EXACT","text":"Thin long bones"},{"scope":"EXACT","text":"Thin, gracile long bones"}]} +{"alt_ids":[],"definition":"An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm.","id":"HP:0003102","name":"Increased carrying angle","obsolete":false,"parents":["HP:0020301"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.","id":"HP:0003103","name":"Abnormal cortical bone morphology","obsolete":false,"parents":["HP:0003330"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal compact bone morphology"},{"scope":"EXACT","text":"Abnormality of cortical bone"}]} +{"alt_ids":[],"definition":"The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones.","id":"HP:0003105","name":"Protuberances at ends of long bones","obsolete":false,"parents":["HP:0011314"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Protuberances at ends of long bones"}]} +{"alt_ids":[],"definition":"Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone.","id":"HP:0003106","name":"Subperiosteal bone resorption","obsolete":false,"parents":["HP:0002813"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Subperiosteal erosions"}]} +{"alt_ids":["HP:0003464"],"definition":"Any deviation from the normal concentration of cholesterol in the blood circulation.","id":"HP:0003107","name":"Abnormal circulating cholesterol concentration","obsolete":false,"parents":["HP:0003119"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal cholesterol homeostasis"},{"scope":"EXACT","text":"Abnormality of cholesterol metabolism"}]} +{"alt_ids":["HP:0002931"],"definition":"An increased concentration of glycine in the urine.","id":"HP:0003108","name":"Hyperglycinuria","obsolete":false,"parents":["HP:0033099"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Glycinuria"},{"scope":"EXACT","text":"High urine glycine levels"}]} +{"alt_ids":["HP:0003266"],"definition":"An increased excretion of phosphates in the urine.","id":"HP:0003109","name":"Hyperphosphaturia","obsolete":false,"parents":["HP:0012599"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High urine phosphate levels"},{"scope":"EXACT","text":"Phosphaturia"}]} +{"alt_ids":["HP:0011865","HP:0011866"],"definition":"An abnormality of the composition of urine or the levels of its components.","id":"HP:0003110","name":"Abnormality of urine homeostasis","obsolete":false,"parents":["HP:0001939","HP:0011277"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pee issues"},{"scope":"EXACT","text":"Urine issues"}]} +{"alt_ids":["HP:0003253"],"definition":"Abnormality of the homeostasis (concentration) of a monoatomic ion.","id":"HP:0003111","name":"Abnormal circulating electrolyte concentration","obsolete":false,"parents":["HP:0001939"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal blood ion concentration"},{"scope":"EXACT","text":"Abnormality of ion homeostasis"},{"scope":"EXACT","text":"Electrolyte disorders"},{"scope":"EXACT","text":"Electrolyte disturbance"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of amino acid in the blood circulation.","id":"HP:0003112","name":"Abnormal circulating amino acid concentration","obsolete":false,"parents":["HP:0004354","HP:0033405"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal amino acid level"},{"scope":"EXACT","text":"Abnormality of serum amino acid level"},{"scope":"EXACT","text":"Abnormality of serum amino acid levels"}]} +{"alt_ids":[],"definition":"The concentration of chloride in the blood circulation is below the lower limit of normal.","id":"HP:0003113","name":"Hypochloremia","obsolete":false,"parents":["HP:0011422"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased chloride concentration"},{"scope":"EXACT","text":"Decreased chloride level"},{"scope":"EXACT","text":"Decreased chloride level in blood"},{"scope":"EXACT","text":"Low blood chloride levels"},{"scope":"EXACT","text":"Reduced chloride concentration"},{"scope":"EXACT","text":"Reduced chloride level"},{"scope":"EXACT","text":"Reduced chloride level in blood"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003114","name":"obsolete Abnormal cardiological findings","obsolete":true,"parents":[],"replaced_by":["HP:0001626"],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal rhythm of the heart.","id":"HP:0003115","name":"Abnormal EKG","obsolete":false,"parents":["HP:0030956"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal ECG"},{"scope":"EXACT","text":"Abnormal EKG"},{"scope":"EXACT","text":"Abnormal electrocardiogram"},{"scope":"EXACT","text":"EKG abnormality"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003116","name":"obsolete Abnormal echocardiogram","obsolete":true,"parents":[],"replaced_by":["HP:0001626"],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of a hormone in the blood circulation outside of normal limits.","id":"HP:0003117","name":"Abnormal circulating hormone concentration","obsolete":false,"parents":["HP:0000818"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal circulating hormone level"},{"scope":"EXACT","text":"Abnormality of circulating hormone level"}]} +{"alt_ids":["HP:0000850","HP:0001578","HP:0004316"],"definition":"Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.","id":"HP:0003118","name":"Increased circulating cortisol level","obsolete":false,"parents":["HP:0002717","HP:0011731"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cushing syndrome"},{"scope":"EXACT","text":"Hypercortisolism"},{"scope":"EXACT","text":"Increased circulating cortisol level"},{"scope":"EXACT","text":"Increased cortisol production"}]} +{"alt_ids":["HP:0003611"],"definition":"Any deviation from the normal concentration of lipid in the blood circulation.","id":"HP:0003119","name":"Abnormal circulating lipid concentration","obsolete":false,"parents":["HP:0430071"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal lipid level"},{"scope":"RELATED","text":"Dyslipidaemia"},{"scope":"RELATED","text":"Dyslipidemia"}]} +{"alt_ids":["HP:0005631","HP:0005839"],"definition":"A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.","id":"HP:0003121","name":"Limb joint contracture","obsolete":false,"parents":["HP:0034392"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Limb contractures"}]} +{"alt_ids":["HP:0008154","HP:0008173","HP:0008359"],"definition":"An increased concentration of cholesterol in the blood.","id":"HP:0003124","name":"Hypercholesterolemia","obsolete":false,"parents":["HP:0003107"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated serum cholesterol"},{"scope":"EXACT","text":"Elevated total cholesterol"},{"scope":"BROAD","text":"High cholesterol"},{"scope":"EXACT","text":"Increased total cholesterol"}]} +{"alt_ids":["HP:0008349","HP:0008355"],"definition":"Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.","id":"HP:0003125","name":"Reduced factor VIII activity","obsolete":false,"parents":["HP:0030976"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Factor VIII deficiency"}]} +{"alt_ids":[],"definition":"Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).","id":"HP:0003126","name":"Low-molecular-weight proteinuria","obsolete":false,"parents":["HP:0000093"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tubular proteinuria"}]} +{"alt_ids":[],"definition":"An abnormally decreased calcium concentration in the urine.","id":"HP:0003127","name":"Hypocalciuria","obsolete":false,"parents":["HP:0011280"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low urine calcium levels"}]} +{"alt_ids":["HP:0003255","HP:0005960"],"definition":"An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.","id":"HP:0003128","name":"Lactic acidosis","obsolete":false,"parents":["HP:0001941"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperlacticacidemia"},{"scope":"EXACT","text":"Increased lactate in body"},{"scope":"EXACT","text":"Lactic acidemia"},{"scope":"EXACT","text":"Lacticacidemia"},{"scope":"EXACT","text":"Lacticacidosis"}]} +{"alt_ids":["HP:0003408"],"definition":"An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.","id":"HP:0003130","name":"Abnormal peripheral myelination","obsolete":false,"parents":["HP:0000759","HP:0012447"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of cystine in the urine.","id":"HP:0003131","name":"Cystinuria","obsolete":false,"parents":["HP:0033095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High urine cystine levels"},{"scope":"RELATED","text":"Nitroprusside-cyanide urine test positive"}]} +{"alt_ids":[],"definition":"An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.","id":"HP:0003133","name":"Abnormal spinocerebellar tract morphology","obsolete":false,"parents":["HP:0002143"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the spinocerebellar tracts"}]} +{"alt_ids":["HP:0006832","HP:0007186"],"definition":"An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).","id":"HP:0003134","name":"Abnormality of peripheral nerve conduction","obsolete":false,"parents":["HP:0030177"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormal peripheral nerve transmission"},{"scope":"EXACT","text":"Sensory and motor nerve conduction abnormalities"}]} +{"alt_ids":[],"definition":"Level of proline in the urine anove the upper limit of normal.","id":"HP:0003137","name":"Prolinuria","obsolete":false,"parents":["HP:0033100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Proline high in urine"}]} +{"alt_ids":[],"definition":"An increased amount of nitrogen in the form of urea in the blood.","id":"HP:0003138","name":"Increased blood urea nitrogen","obsolete":false,"parents":["HP:0002157","HP:0031970"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased BUN"},{"scope":"EXACT","text":"Increased blood urea nitrogen"}]} +{"alt_ids":[],"definition":"A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.","id":"HP:0003139","name":"Panhypogammaglobulinemia","obsolete":false,"parents":["HP:0004313"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Panhypogammaglobulinaemia"},{"scope":"EXACT","text":"Panypogammaglobulinemia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003140","name":"T-wave inversion in the right precordial leads","obsolete":false,"parents":["HP:0010872"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008343"],"definition":"The concentration of low-density lipoprotein cholesterol in the blood circulation is above the upper limit of normal.","id":"HP:0003141","name":"Elevated circulating LDL-C concentration","obsolete":false,"parents":["HP:0010980","HP:0031886"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated low-density lipoprotein cholesterol concentration"},{"scope":"EXACT","text":"Elevated low-density lipoprotein cholesterol level"},{"scope":"EXACT","text":"Elevated low-density lipoprotein cholesterol level in blood"},{"scope":"EXACT","text":"Hyperbetalipoproteinemia"},{"scope":"EXACT","text":"Increased LDL cholesterol"},{"scope":"EXACT","text":"Increased LDLc concentration"},{"scope":"EXACT","text":"Increased beta-lipoproteins"},{"scope":"EXACT","text":"Increased circulating LDL level"},{"scope":"EXACT","text":"Increased circulating low-density lipoprotein cholesterol"},{"scope":"EXACT","text":"Increased circulating low-density lipoprotein levels"},{"scope":"EXACT","text":"Increased low-density lipoprotein cholesterol concentration"},{"scope":"EXACT","text":"Increased low-density lipoprotein cholesterol level"},{"scope":"EXACT","text":"Increased low-density lipoprotein cholesterol level in blood"},{"scope":"EXACT","text":"Increased plasma LDL levels"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003142","name":"Excessive purine production","obsolete":false,"parents":["HP:0012337"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A increased concentration of serotonin in the blood.","id":"HP:0003144","name":"Increased serum serotonin","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased serum serotonin"}]} +{"alt_ids":[],"definition":"The concentration of adenosylcobalam in the blood circulation is below the lower limit of normal. Adenosylcobalamin is one of the active forms of vitamin B12.","id":"HP:0003145","name":"Decreased circulating adenosylcobalamin concentration","obsolete":false,"parents":["HP:0004341"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased ADOCBL"}]} +{"alt_ids":[],"definition":"An decreased concentration of cholesterol in the blood.","id":"HP:0003146","name":"Hypocholesterolemia","obsolete":false,"parents":["HP:0003107"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating cholesterol level"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003148","name":"Elevated serum acid phosphatase","obsolete":false,"parents":["HP:0004356"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acid phosphatase elevated"},{"scope":"EXACT","text":"Elevated serum acid phosphatase"}]} +{"alt_ids":["HP:0012611"],"definition":"An abnormally high level of uric acid in the urine.","id":"HP:0003149","name":"Hyperuricosuria","obsolete":false,"parents":["HP:0012610"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High urine uric acid level"},{"scope":"EXACT","text":"Increased urinary urate"}]} +{"alt_ids":["HP:0003490"],"definition":"The concentration of glutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0003150","name":"Glutaric aciduria","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Glutarate aciduria"},{"scope":"EXACT","text":"Glutaricaciduria"},{"scope":"EXACT","text":"Increased glutarate level in urine"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003152","name":"obsolete Increased serum 1,25-dihydroxyvitamin D3","obsolete":true,"parents":[],"replaced_by":["HP:0031415"],"synonyms":[]} +{"alt_ids":[],"definition":"An elevated urinary concentration of cystathionine.","id":"HP:0003153","name":"Cystathioninuria","obsolete":false,"parents":["HP:0033098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High urine cystathionine levels"}]} +{"alt_ids":[],"definition":"An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.","id":"HP:0003154","name":"Increased circulating ACTH level","obsolete":false,"parents":["HP:0011043"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High blood corticotropin levels"},{"scope":"EXACT","text":"Increased circulating ACTH level"},{"scope":"EXACT","text":"Increased plasma ACTH"}]} +{"alt_ids":["HP:0002911","HP:0003636","HP:0008296"],"definition":"Abnormally increased serum levels of alkaline phosphatase activity.","id":"HP:0003155","name":"Elevated circulating alkaline phosphatase concentration","obsolete":false,"parents":["HP:0004379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated ALP"},{"scope":"EXACT","text":"Elevated alkaline phosphatase"},{"scope":"EXACT","text":"Greatly elevated alkaline phosphatase"},{"scope":"EXACT","text":"High serum alkaline phosphatase"},{"scope":"EXACT","text":"Hyperphosphatasemia"},{"scope":"EXACT","text":"Hyperphosphatasia"},{"scope":"EXACT","text":"Increased alkaline phosphatase"},{"scope":"EXACT","text":"Increased serum alkaline phosphatase"}]} +{"alt_ids":[],"definition":"An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine.","id":"HP:0003158","name":"Hyposthenuria","obsolete":false,"parents":["HP:0033358"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced urinary osmolality"}]} +{"alt_ids":[],"definition":"Increased excretion of oxalates in the urine.","id":"HP:0003159","name":"Hyperoxaluria","obsolete":false,"parents":["HP:0001992"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High urine oxalate levels"},{"scope":"EXACT","text":"Increased level of oxalate in urine"}]} +{"alt_ids":[],"definition":"Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded.","id":"HP:0003160","name":"Abnormal isoelectric focusing of serum transferrin","obsolete":false,"parents":["HP:0012347"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal isoelectric focusing of transferrin"},{"scope":"EXACT","text":"Abnormal transferrin isoelectric focusing"}]} +{"alt_ids":[],"definition":"Increased relative concentration of 4-hydroxyphenylpyruvic acid in the urine.","id":"HP:0003161","name":"4-Hydroxyphenylpyruvic aciduria","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hydroxyphenylpyruvic aciduria"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003162","name":"Fasting hypoglycemia","obsolete":false,"parents":["HP:0001943"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low blood sugar when fasting"}]} +{"alt_ids":[],"definition":"An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.","id":"HP:0003163","name":"Elevated urinary delta-aminolevulinic acid","obsolete":false,"parents":["HP:6000531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urinary delta-aminolevulinic acid"}]} +{"alt_ids":[],"definition":"Gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids (primarily testosterone or estradiol). GnRH is not typically assayed directly because it is released in pulses from the hypothalamus, and its concentration can fluctuate rapidly and in a complex pattern that makes single blood measurements less informative than the pituitary's response.","id":"HP:0003164","name":"Gonadotropin-releasing hormone deficiency","obsolete":false,"parents":["HP:0012285","HP:0500012"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypothalamic GNRH deficiency"},{"scope":"EXACT","text":"Hypothalamic gonadotropin-releasing hormone deficiency"}]} +{"alt_ids":[],"definition":"An abnormal increased concentration of parathyroid hormone.","id":"HP:0003165","name":"Elevated circulating parathyroid hormone level","obsolete":false,"parents":["HP:0100530"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating PTH level"},{"scope":"EXACT","text":"Elevated serum parathyroid hormone"},{"scope":"EXACT","text":"Elevated serum parathyroid hormone level"},{"scope":"EXACT","text":"Elevated serum pth"},{"scope":"EXACT","text":"Increased serum parathyroid hormone"}]} +{"alt_ids":[],"definition":"Increased concentration of taurine in the urine.","id":"HP:0003166","name":"Increased urinary taurine","obsolete":false,"parents":["HP:0033097"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased urinary taurine"}]} +{"alt_ids":[],"definition":"An increased concentration of carnosine in the urine.","id":"HP:0003167","name":"Carnosinuria","obsolete":false,"parents":["HP:0033097"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High urine carnosine levels"}]} +{"alt_ids":[],"definition":"An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually referred to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His).","id":"HP:0003168","name":"Dibasicaminoaciduria","obsolete":false,"parents":["HP:0033100"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.","id":"HP:0003170","name":"Abnormal acetabulum morphology","obsolete":false,"parents":["HP:0001384"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the acetabulum"},{"scope":"EXACT","text":"Abnormality of the hipbone socket"},{"scope":"EXACT","text":"Acetabular abnormality"}]} +{"alt_ids":[],"definition":"An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (pubis, ilium, ischium) of the hip bone.","id":"HP:0003172","name":"Abnormal pubic bone morphology","obsolete":false,"parents":["HP:0003272"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the pubic bone"},{"scope":"EXACT","text":"Abnormality of the pubic bones"},{"scope":"EXACT","text":"Abnormality of the pubis"}]} +{"alt_ids":[],"definition":"Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.","id":"HP:0003173","name":"Hypoplastic pubic bone","obsolete":false,"parents":["HP:0009104"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic pubic bones"},{"scope":"EXACT","text":"Hypoplastic pubis"}]} +{"alt_ids":[],"definition":"An anomaly of the ischium, which forms the lower and back part of the hip bone.","id":"HP:0003174","name":"Abnormal ischium morphology","obsolete":false,"parents":["HP:0003272"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the ischial bones"},{"scope":"EXACT","text":"Abnormality of the ischium"},{"scope":"EXACT","text":"Anomaly of the ischium"}]} +{"alt_ids":[],"definition":"Underdevelopment of the ischium, which forms the lower and back part of the hip bone.","id":"HP:0003175","name":"Hypoplastic ischia","obsolete":false,"parents":["HP:0003174"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic ischial bones"},{"scope":"EXACT","text":"Hypoplastic ischii"},{"scope":"EXACT","text":"Hypoplastic ischium"}]} +{"alt_ids":[],"definition":"A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.","id":"HP:0003177","name":"Squared iliac bones","obsolete":false,"parents":["HP:0002867"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Square iliac bones"},{"scope":"EXACT","text":"Squaring of iliac bones"}]} +{"alt_ids":[],"definition":"Intrapelvic bulging of the medial acetabular wall.","id":"HP:0003179","name":"Protrusio acetabuli","obsolete":false,"parents":["HP:0003170"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormally indented hip sockets"},{"scope":"EXACT","text":"Acetabular protrusion"},{"scope":"EXACT","text":"Protrusio acetabulae"}]} +{"alt_ids":["HP:0003171","HP:0008832","HP:0008834"],"definition":"Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.","id":"HP:0003180","name":"Flat acetabular roof","obsolete":false,"parents":["HP:0003170"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acetabular angle flat"},{"scope":"EXACT","text":"Flat acetabular roofs"},{"scope":"EXACT","text":"Flattened acetabular roof"},{"scope":"EXACT","text":"Horizontal acetabulae"},{"scope":"EXACT","text":"Horizontal acetabular roof"},{"scope":"EXACT","text":"Horizontal acetabular roofs"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003182","name":"Shallow acetabular fossae","obsolete":false,"parents":["HP:0003170"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Shallow acetabula"},{"scope":"EXACT","text":"Shallow acetabulae"},{"scope":"EXACT","text":"Shallow acetabular fossa"},{"scope":"EXACT","text":"Shallow acetabulum"}]} +{"alt_ids":[],"definition":"Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones.","id":"HP:0003183","name":"Wide pubic symphysis","obsolete":false,"parents":["HP:0003172"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide symphysis of pubis"}]} +{"alt_ids":[],"definition":"Reduced ability to move the femur outward to the side.","id":"HP:0003184","name":"Decreased hip abduction","obsolete":false,"parents":["HP:0008800"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Limited hip abduction"}]} +{"alt_ids":["HP:0008815"],"definition":"The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch.","id":"HP:0003185","name":"Short greater sciatic notch","obsolete":false,"parents":["HP:0010456"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short sacroiliac notch"},{"scope":"EXACT","text":"Shortened sacroiliac notches"},{"scope":"EXACT","text":"Small sacroiliac notch"}]} +{"alt_ids":[],"definition":"The presence of nipples that instead of pointing outward are retracted inwards.","id":"HP:0003186","name":"Inverted nipples","obsolete":false,"parents":["HP:0004404"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Invaginated nipples"},{"scope":"EXACT","text":"Inverted nipples"}]} +{"alt_ids":["HP:0000784"],"definition":"Underdevelopment of the breast.","id":"HP:0003187","name":"Breast hypoplasia","obsolete":false,"parents":["HP:0010311"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Underdeveloped breasts"}]} +{"alt_ids":["HP:0005283","HP:0200142"],"definition":"Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base.","id":"HP:0003189","name":"Long nose","obsolete":false,"parents":["HP:0005105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elongated nose"},{"scope":"EXACT","text":"Increased height of nose"},{"scope":"EXACT","text":"Increased length of nose"},{"scope":"EXACT","text":"Increased nasal height"},{"scope":"EXACT","text":"Increased nasal length"},{"scope":"EXACT","text":"Long nose"},{"scope":"EXACT","text":"Nasal elongation"}]} +{"alt_ids":["HP:0004412"],"definition":"The presence of a notch in the margin of the ala nasi.","id":"HP:0003191","name":"Cleft ala nasi","obsolete":false,"parents":["HP:0000429"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ala nasi, cleft"},{"scope":"EXACT","text":"Alar clefts"},{"scope":"EXACT","text":"Cleft nasal alae"},{"scope":"EXACT","text":"Cleft nostril"},{"scope":"RELATED","text":"Nostril coloboma"},{"scope":"EXACT","text":"Notched nasal alae"}]} +{"alt_ids":[],"definition":"It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea.","id":"HP:0003193","name":"Allergic rhinitis","obsolete":false,"parents":["HP:0012384","HP:0012393"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hay fever"},{"scope":"EXACT","text":"Hayfever"},{"scope":"RELATED","text":"Nasal allergies"}]} +{"alt_ids":[],"definition":"Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.","id":"HP:0003194","name":"Short nasal bridge","obsolete":false,"parents":["HP:0000422"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased length of bridge of nose"},{"scope":"EXACT","text":"Decreased length of nasal bridge"},{"scope":"EXACT","text":"Short bridge of nose"},{"scope":"EXACT","text":"Short nasal bridge"}]} +{"alt_ids":["HP:0000440","HP:0000449","HP:0000450","HP:0003192","HP:0003195","HP:0005270","HP:0200092"],"definition":"Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.","id":"HP:0003196","name":"Short nose","obsolete":false,"parents":["HP:0005105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased length of nose"},{"scope":"EXACT","text":"Hypoplastic nose"},{"scope":"EXACT","text":"Nasal hypoplasia"},{"scope":"EXACT","text":"Short nose"},{"scope":"EXACT","text":"Shortened nose"},{"scope":"RELATED","text":"Small nose"}]} +{"alt_ids":["HP:0003569","HP:0003705","HP:0003742","HP:0003802"],"definition":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","id":"HP:0003198","name":"Myopathy","obsolete":false,"parents":["HP:0011805"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle tissue disease"},{"scope":"EXACT","text":"Myopathic changes"}]} +{"alt_ids":["HP:0003732"],"definition":null,"id":"HP:0003199","name":"Decreased muscle mass","obsolete":false,"parents":["HP:0011805"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased muscle mass"}]} +{"alt_ids":["HP:0009076"],"definition":"An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.","id":"HP:0003200","name":"Ragged-red muscle fibers","obsolete":false,"parents":["HP:0004303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mitochondrial proliferation in muscle tissue"},{"scope":"EXACT","text":"Ragged red muscle fibers"},{"scope":"EXACT","text":"Ragged red muscle fibres"},{"scope":"EXACT","text":"Ragged-red fibers"},{"scope":"EXACT","text":"Ragged-red fibres"},{"scope":"EXACT","text":"Ragged-red muscle fibres"}]} +{"alt_ids":[],"definition":"Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.","id":"HP:0003201","name":"Rhabdomyolysis","obsolete":false,"parents":["HP:0011805"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Breakdown of skeletal muscle"}]} +{"alt_ids":["HP:0001299","HP:0003545","HP:0003671","HP:0003702","HP:0003746","HP:0006995","HP:0007171","HP:0007356","HP:0009010","HP:0009048","HP:0100868"],"definition":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","id":"HP:0003202","name":"Skeletal muscle atrophy","obsolete":false,"parents":["HP:0011805"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Amyotrophy"},{"scope":"EXACT","text":"Amyotrophy involving the extremities"},{"scope":"EXACT","text":"Muscle atrophy"},{"scope":"EXACT","text":"Muscle atrophy, neurogenic"},{"scope":"EXACT","text":"Muscle degeneration"},{"scope":"EXACT","text":"Muscle hypotrophy"},{"scope":"EXACT","text":"Muscle wasting"},{"scope":"EXACT","text":"Muscular atrophy"},{"scope":"EXACT","text":"Neurogenic muscle atrophy"},{"scope":"EXACT","text":"Neurogenic muscle atrophy, especially in the lower limbs"},{"scope":"EXACT","text":"Neurogenic muscular atrophy"}]} +{"alt_ids":["HP:0005512","HP:0025632"],"definition":"Abnormal decrease of neutrophil oxidative burst, commonly measured through oxidation of dihydrorhodamine (DHR) using flow cytometry or through nitroblue tetrazolium test (NBT) using optical microscopy, upon stimulation with phorbol-12-myristate-13-acetate (PMA), E. coli or other ligands.","id":"HP:0003203","name":"Decreased neutrophil oxidative burst","obsolete":false,"parents":["HP:0011990"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased oxidative burst"},{"scope":"EXACT","text":"Impaired oxidative burst"},{"scope":"EXACT","text":"Negative NBT reduction test"},{"scope":"EXACT","text":"Negative nitroblue tetrazolium reduction test"},{"scope":"EXACT","text":"Reduced reactive oxygen species production in neutrophils"}]} +{"alt_ids":[],"definition":"The intracellular accumulation of autofluorescent storage material.","id":"HP:0003204","name":"Intracellular accumulation of autofluorescent lipopigment storage material","obsolete":false,"parents":["HP:0011017"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern.","id":"HP:0003205","name":"Curvilinear intracellular accumulation of autofluorescent lipopigment storage material","obsolete":false,"parents":["HP:0003204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curvilinear profiles ultrastructurally"},{"scope":"EXACT","text":"Curvilinear profiles ultrastructurally in cells"},{"scope":"EXACT","text":"Intracellular curvilinear profiles on ultrastructural analysis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003206","name":"Decreased activity of NADPH oxidase","obsolete":false,"parents":["HP:0004358"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0012455"],"definition":"Pathological deposition of calcium salts in one or more arteries.","id":"HP:0003207","name":"Arterial calcification","obsolete":false,"parents":["HP:0004934","HP:0011004"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern.","id":"HP:0003208","name":"Fingerprint intracellular accumulation of autofluorescent lipopigment storage material","obsolete":false,"parents":["HP:0003204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fingerprint profiles ultrastructurally"},{"scope":"EXACT","text":"Fingerprint profiles ultrastructurally in cells"}]} +{"alt_ids":[],"definition":"A decreased rate of pyruvate carboxylase activity.","id":"HP:0003209","name":"Decreased pyruvate carboxylase activity","obsolete":false,"parents":["HP:0000816"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity.","id":"HP:0003210","name":"Decreased methylmalonyl-CoA mutase activity","obsolete":false,"parents":["HP:0000816"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased methylmalonyl CoA mutase activity"}]} +{"alt_ids":["HP:0005382","HP:0005418","HP:0005433"],"definition":"An abnormally increased overall level of immunoglobulin E in blood.","id":"HP:0003212","name":"Increased circulating IgE concentration","obsolete":false,"parents":["HP:0010702","HP:0410241"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated immunoglobulin E"},{"scope":"EXACT","text":"Elevated serum IgE"},{"scope":"EXACT","text":"High immunoglobulin E"},{"scope":"EXACT","text":"Increased circulating IgE level"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003213","name":"Deficient excision of UV-induced pyrimidine dimers in DNA","obsolete":false,"parents":["HP:0003254"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003214","name":"Prolonged G2 phase of cell cycle","obsolete":false,"parents":["HP:0011018"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0033455"],"definition":"An increased concentration of dicarboxylic acid in the urine.","id":"HP:0003215","name":"Elevated urinary dicarboxylic acid level","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dicarboxylic aciduria"}]} +{"alt_ids":[],"definition":"A diffuse form of amyloidosis.","id":"HP:0003216","name":"Generalized amyloid deposition","obsolete":false,"parents":["HP:0020015"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised amyloid deposition"}]} +{"alt_ids":[],"definition":"The concentration of glutamine in the blood circulation is above the upper limit of normal.","id":"HP:0003217","name":"Hyperglutaminemia","obsolete":false,"parents":["HP:0010903"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated glutamine concentration"},{"scope":"EXACT","text":"Elevated glutamine level"},{"scope":"EXACT","text":"Elevated glutamine level in blood"},{"scope":"EXACT","text":"High plasma glutamine"},{"scope":"EXACT","text":"Increased glutamine concentration"},{"scope":"EXACT","text":"Increased glutamine level"},{"scope":"EXACT","text":"Increased glutamine level in blood"}]} +{"alt_ids":["HP:0000810","HP:0010928"],"definition":"An increased concentration of orotic acid in the urine.","id":"HP:0003218","name":"Oroticaciduria","obsolete":false,"parents":["HP:0031980"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High urine orotic acid levels"},{"scope":"EXACT","text":"Increased urinary orotic acid concentration"},{"scope":"RELATED","text":"Orotic aciduria"}]} +{"alt_ids":[],"definition":"The concentration of ethylmalonic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0003219","name":"Ethylmalonic aciduria","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002915","HP:0008307"],"definition":"A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration.","id":"HP:0003220","name":"Abnormality of chromosome stability","obsolete":false,"parents":["HP:0011017"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C.","id":"HP:0003221","name":"Chromosomal breakage induced by crosslinking agents","obsolete":false,"parents":["HP:0040012"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chromosomal breakage induced by diepoxybutane"},{"scope":"EXACT","text":"Chromosomal breakage induced by mitomycin C"}]} +{"alt_ids":["HP:0008287"],"definition":"The concentration of methylcobalamin in the blood circulation is below the lower limit of normal. Methylcobalamin is a form of vitamin B12.","id":"HP:0003223","name":"Decreased circulating methylcobalamin concentration","obsolete":false,"parents":["HP:0003145"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased methylcobalamin"},{"scope":"EXACT","text":"Methylcobalamin deficiency"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003224","name":"Increased cellular sensitivity to UV light","obsolete":false,"parents":["HP:0011017"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased activity of coagulation factor V.","id":"HP:0003225","name":"Reduced coagulation factor V activity","obsolete":false,"parents":["HP:0031899"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Factor V deficiency"},{"scope":"EXACT","text":"Reduced factor V activity"}]} +{"alt_ids":[],"definition":"An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern.","id":"HP:0003226","name":"Rectilinear intracellular accumulation of autofluorescent lipopigment storage material","obsolete":false,"parents":["HP:0003204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rectilinear profiles ultrastructurally"}]} +{"alt_ids":[],"definition":"The concentration of sodium in the blood circulation is above the upper limit of normal.","id":"HP:0003228","name":"Hypernatremia","obsolete":false,"parents":["HP:0010931"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated sodium(1+) concentration"},{"scope":"EXACT","text":"Elevated sodium(1+) level"},{"scope":"EXACT","text":"Elevated sodium(1+) level in blood"},{"scope":"EXACT","text":"High blood sodium levels"},{"scope":"EXACT","text":"Increased sodium(1+) concentration"},{"scope":"EXACT","text":"Increased sodium(1+) level"},{"scope":"EXACT","text":"Increased sodium(1+) level in blood"}]} +{"alt_ids":[],"definition":"The concentration of tyrosine in the blood circulation is above the upper limit of normal.","id":"HP:0003231","name":"Hypertyrosinemia","obsolete":false,"parents":["HP:0010917"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated tyrosine concentration"},{"scope":"EXACT","text":"Elevated tyrosine level"},{"scope":"EXACT","text":"Elevated tyrosine level in blood"},{"scope":"EXACT","text":"Increased tyrosine concentration"},{"scope":"EXACT","text":"Increased tyrosine in blood"},{"scope":"EXACT","text":"Increased tyrosine level"},{"scope":"EXACT","text":"Increased tyrosine level in blood"},{"scope":"EXACT","text":"Tyrosinemia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003232","name":"Mitochondrial malic enzyme reduced","obsolete":false,"parents":["HP:0003287"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased mitochondrial malic enzyme"}]} +{"alt_ids":[],"definition":"The concentration of high-density lipoprotein cholesterol in the blood circulation is below the lower limit of normal.","id":"HP:0003233","name":"Decreased circulating HDL-C concentration","obsolete":false,"parents":["HP:0010981","HP:0031888"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased HDL cholesterol"},{"scope":"EXACT","text":"Decreased circulating high-density lipoprotein cholesterol"},{"scope":"EXACT","text":"Decreased circulating high-density lipoprotein levels"},{"scope":"EXACT","text":"Decreased high-density lipoprotein cholesterol concentration"},{"scope":"EXACT","text":"Decreased high-density lipoprotein cholesterol level"},{"scope":"EXACT","text":"Decreased high-density lipoprotein cholesterol level in blood"},{"scope":"EXACT","text":"Hypoalphalipoproteinemia"},{"scope":"EXACT","text":"Low HDL-cholesterol"},{"scope":"EXACT","text":"Reduced high-density lipoprotein cholesterol concentration"},{"scope":"EXACT","text":"Reduced high-density lipoprotein cholesterol level"},{"scope":"EXACT","text":"Reduced high-density lipoprotein cholesterol level in blood"}]} +{"alt_ids":[],"definition":"The concentration of carnitine in the blood circulation is below the lower limit of normal.","id":"HP:0003234","name":"Decreased circulating carnitine concentration","obsolete":false,"parents":["HP:0003287","HP:0010967"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Carnitine deficiency"},{"scope":"EXACT","text":"Decreased carnitine concentration"},{"scope":"EXACT","text":"Decreased carnitine level"},{"scope":"EXACT","text":"Decreased carnitine level in blood"},{"scope":"EXACT","text":"Decreased plasma carnitine"},{"scope":"EXACT","text":"Reduced carnitine concentration"},{"scope":"EXACT","text":"Reduced carnitine level"},{"scope":"EXACT","text":"Reduced carnitine level in blood"}]} +{"alt_ids":[],"definition":"An increased concentration of methionine in the blood.","id":"HP:0003235","name":"Hypermethioninemia","obsolete":false,"parents":["HP:0010901"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased methionine in blood"},{"scope":"EXACT","text":"Methioninemia"}]} +{"alt_ids":["HP:0002147","HP:0002906","HP:0003078","HP:0003525","HP:0003531","HP:0008164"],"definition":"The activity of creatine kinase in the blood circulation is above the upper limit of normal.","id":"HP:0003236","name":"Elevated circulating creatine kinase activity","obsolete":false,"parents":["HP:0040081"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated blood creatine phosphokinase"},{"scope":"EXACT","text":"Elevated circulating creatine phosphokinase"},{"scope":"EXACT","text":"Elevated creatine kinase"},{"scope":"EXACT","text":"Elevated creatine kinase concentration"},{"scope":"EXACT","text":"Elevated creatine kinase level"},{"scope":"EXACT","text":"Elevated creatine kinase level in blood"},{"scope":"EXACT","text":"Elevated serum CPK"},{"scope":"EXACT","text":"Elevated serum creatine kinase"},{"scope":"EXACT","text":"Elevated serum creatine phosphokinase"},{"scope":"EXACT","text":"High serum creatine kinase"},{"scope":"EXACT","text":"Increased CPK"},{"scope":"EXACT","text":"Increased creatine kinase"},{"scope":"EXACT","text":"Increased creatine kinase concentration"},{"scope":"EXACT","text":"Increased creatine kinase level"},{"scope":"EXACT","text":"Increased creatine kinase level in blood"},{"scope":"EXACT","text":"Increased creatine phosphokinase"},{"scope":"EXACT","text":"Increased serum CK"},{"scope":"EXACT","text":"Increased serum creatine kinase"},{"scope":"EXACT","text":"Increased serum creatine phosphokinase"}]} +{"alt_ids":[],"definition":"An abnormally increased level of immunoglobulin G in blood.","id":"HP:0003237","name":"Increased circulating IgG concentration","obsolete":false,"parents":["HP:0010702","HP:0410242"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased IgG level"},{"scope":"EXACT","text":"Increased circulating IgG level"},{"scope":"EXACT","text":"Increased levels of IgG"},{"scope":"EXACT","text":"Increased total IgG in blood"}]} +{"alt_ids":[],"definition":"The concentration of pepsinogen I in the blood circulation is above the upper limit of normal.","id":"HP:0003238","name":"Hyperpepsinogenemia I","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0410158"],"definition":"An increased level of phosphoethanolamine (synonym: O-phosphoethanolamine) in the urine.","id":"HP:0003239","name":"Phosphoethanolaminuria","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High urine phosphoethanolamine levels"},{"scope":"EXACT","text":"Increased level of O-phosphoethanolamine in urine"},{"scope":"EXACT","text":"Increased urine O-phosphoethanolamine level"}]} +{"alt_ids":[],"definition":"Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.","id":"HP:0003240","name":"Increased phosphoribosylpyrophosphate synthetase level","obsolete":false,"parents":["HP:0032459"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased PRPS1 activity"},{"scope":"EXACT","text":"Increased phosphoribosyl pyrophosphate synthetase activity"}]} +{"alt_ids":["HP:0000788","HP:0003245"],"definition":"Underdevelopment of part or all of the external reproductive organs.","id":"HP:0003241","name":"External genital hypoplasia","obsolete":false,"parents":["HP:0000811"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypogenitalism"},{"scope":"EXACT","text":"Small genitalia"},{"scope":"EXACT","text":"Underdevelopment of external reproductive organs"}]} +{"alt_ids":[],"definition":"Location of the urethral opening on the inferior aspect of the penis.","id":"HP:0003244","name":"Penile hypospadias","obsolete":false,"parents":["HP:0000047"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased size of the ridge of tissue that extends along the midline of the scrotum.","id":"HP:0003246","name":"Prominent scrotal raphe","obsolete":false,"parents":["HP:0000045"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prominent perineal raphe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003247","name":"Overgrowth of external genitalia","obsolete":false,"parents":["HP:0000811"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Overgrowth of external genitalia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003248","name":"Gonadal tissue inappropriate for external genitalia or chromosomal sex","obsolete":false,"parents":["HP:0000062"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003249","name":"Genital ulcers","obsolete":false,"parents":["HP:0012243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Genital ulcers"}]} +{"alt_ids":["HP:0008709"],"definition":"Aplasia of the vagina.","id":"HP:0003250","name":"Aplasia of the 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factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.","id":"HP:0003256","name":"Abnormality of the coagulation cascade","obsolete":false,"parents":["HP:0001928"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Coagulopathy"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003258","name":"Glyoxalase deficiency","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003227"],"definition":"An increased amount of creatinine in the blood.","id":"HP:0003259","name":"Elevated circulating creatinine concentration","obsolete":false,"parents":["HP:0002157","HP:0012100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated creatinine"},{"scope":"EXACT","text":"Elevated serum creatinine"},{"scope":"EXACT","text":"High blood creatinine level"},{"scope":"EXACT","text":"Increased creatinine"},{"scope":"EXACT","text":"Increased serum creatinine"}]} +{"alt_ids":[],"definition":"The concentration of hydroxyproline in the blood circulation is above the upper limit of normal.","id":"HP:0003260","name":"Hydroxyprolinemia","obsolete":false,"parents":["HP:0010907"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated hydroxyproline concentration"},{"scope":"EXACT","text":"Elevated hydroxyproline level"},{"scope":"EXACT","text":"Elevated hydroxyproline level in blood"},{"scope":"EXACT","text":"High blood hydroxyproline levels"},{"scope":"EXACT","text":"Increased hydroxyproline concentration"},{"scope":"EXACT","text":"Increased hydroxyproline level"},{"scope":"EXACT","text":"Increased hydroxyproline level in blood"}]} +{"alt_ids":["HP:0004436","HP:0005351","HP:0005417"],"definition":"An abnormally increased level of immunoglobulin A in blood.","id":"HP:0003261","name":"Increased circulating IgA concentration","obsolete":false,"parents":["HP:0010702","HP:0410240"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated IgA"},{"scope":"EXACT","text":"Elevated serum 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full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.","id":"HP:0003273","name":"Hip contracture","obsolete":false,"parents":["HP:0001384","HP:0005750"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flexion contracture of hips"},{"scope":"EXACT","text":"Flexion contractures of hips"},{"scope":"EXACT","text":"Hip contractures"},{"scope":"EXACT","text":"Hip flexion contractures"}]} +{"alt_ids":[],"definition":"Underdeveloped acetabulae.","id":"HP:0003274","name":"Hypoplastic acetabulae","obsolete":false,"parents":["HP:0003170"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acetabular hypoplasia"},{"scope":"EXACT","text":"Hypoplastic acetabula"}]} +{"alt_ids":[],"definition":"Reduced side to side width of the pelvis.","id":"HP:0003275","name":"Narrow pelvis 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This term applies if the vertebral body appears rounded or oval.","id":"HP:0003300","name":"Ovoid vertebral bodies","obsolete":false,"parents":["HP:0003312"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Bullet vertebral body"},{"scope":"EXACT","text":"Oval vertebral bodies"},{"scope":"EXACT","text":"Ovoid vertebrae"},{"scope":"EXACT","text":"Ovoid-shaped vertebral bodies"}]} +{"alt_ids":["HP:0003420","HP:0004583","HP:0004628"],"definition":"An irregular surface of the vertebral end plates, which are normally relatively smooth.","id":"HP:0003301","name":"Irregular vertebral endplates","obsolete":false,"parents":["HP:0005106"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end plates"},{"scope":"EXACT","text":"Irregular endplates"},{"scope":"EXACT","text":"end-plate irregularities"},{"scope":"EXACT","text":"endplate irregularities"},{"scope":"EXACT","text":"endplate irregularity"},{"scope":"EXACT","text":"irregular vertebral plates"},{"scope":"EXACT","text":"vertebral endplate irregularity"}]} +{"alt_ids":[],"definition":"Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra.","id":"HP:0003302","name":"Spondylolisthesis","obsolete":false,"parents":["HP:0000925"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Displacement of one backbone compared to another"},{"scope":"EXACT","text":"Slipped backbone"},{"scope":"EXACT","text":"Spondylolithesis"}]} +{"alt_ids":[],"definition":"Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma.","id":"HP:0003304","name":"Spondylolysis","obsolete":false,"parents":["HP:0000925"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies).","id":"HP:0003305","name":"Block vertebrae","obsolete":false,"parents":["HP:0002948"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.","id":"HP:0003306","name":"Spinal rigidity","obsolete":false,"parents":["HP:0000925"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced spine movement"},{"scope":"EXACT","text":"Rigid spine"}]} +{"alt_ids":["HP:0002939"],"definition":"Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.","id":"HP:0003307","name":"Hyperlordosis","obsolete":false,"parents":["HP:0010674"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lordosis"},{"scope":"EXACT","text":"Prominent swayback"}]} +{"alt_ids":[],"definition":"A partial dislocation of one or more intervertebral joints in the cervical vertebral column.","id":"HP:0003308","name":"Cervical subluxation","obsolete":false,"parents":["HP:0003319","HP:0032153"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003309","name":"Ovoid thoracolumbar vertebrae","obsolete":false,"parents":["HP:0003300"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ovoid thoracic and lumbar vertebrae"}]} +{"alt_ids":["HP:0004600"],"definition":"Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. 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The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray.","id":"HP:0003316","name":"Butterfly vertebrae","obsolete":false,"parents":["HP:0008428"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anterior rachischisis"},{"scope":"EXACT","text":"Butterfly vertebrae"},{"scope":"EXACT","text":"Sagittal clefting of vertebrae"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003318","name":"Cervical spine hypermobility","obsolete":false,"parents":["HP:0003319"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cervical spine joint hypermobility"}]} +{"alt_ids":["HP:0004587"],"definition":"Any abnormality of the cervical vertebral column.","id":"HP:0003319","name":"Abnormality of the cervical spine","obsolete":false,"parents":["HP:0000925"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal cervical spine"},{"scope":"EXACT","text":"Abnormality of cervical vertebra"},{"scope":"EXACT","text":"Abnormality of the cervical vertebrae"},{"scope":"EXACT","text":"Cervical spine abnormalities"},{"scope":"EXACT","text":"Cervical vertebral abnormalities"},{"scope":"RELATED","text":"Cervical vertebral anomalies"},{"scope":"EXACT","text":"Disorder of cervical vertebra"}]} +{"alt_ids":[],"definition":"A partial dislocation of the atlantoaxial joints.","id":"HP:0003320","name":"C1-C2 subluxation","obsolete":false,"parents":["HP:0003308","HP:0008440"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005782"],"definition":null,"id":"HP:0003321","name":"Biconcave flattened vertebrae","obsolete":false,"parents":["HP:0000926","HP:0004586"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0009032"],"definition":null,"id":"HP:0003323","name":"Progressive muscle weakness","obsolete":false,"parents":["HP:0001324"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle weakness, progressive"},{"scope":"EXACT","text":"Progressive muscular weakness"}]} +{"alt_ids":["HP:0003686","HP:0003723"],"definition":"Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.","id":"HP:0003324","name":"Generalized muscle weakness","obsolete":false,"parents":["HP:0001324"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised muscle weakness"},{"scope":"EXACT","text":"Generalised weakness"},{"scope":"EXACT","text":"Generalized weakness"},{"scope":"EXACT","text":"Muscle weakness, diffuse"},{"scope":"EXACT","text":"Muscle weakness, generalised"},{"scope":"EXACT","text":"Muscle weakness, generalized"}]} +{"alt_ids":["HP:0008971"],"definition":"Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.","id":"HP:0003325","name":"Limb-girdle muscle weakness","obsolete":false,"parents":["HP:0001324","HP:0009127"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Limb girdle 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If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia.","id":"HP:0003337","name":"Reduced prothrombin consumption","obsolete":false,"parents":["HP:0012200"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Poor prothrombin consumption"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003338","name":"Focal necrosis of right ventricular muscle cells","obsolete":false,"parents":["HP:0001637"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid.","id":"HP:0003339","name":"Pyrimidine-responsive megaloblastic anemia","obsolete":false,"parents":["HP:0001889"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anaemia corrected by uridylic acid and cytidylic acid"},{"scope":"EXACT","text":"Anemia corrected by uridylic acid and cytidylic acid"},{"scope":"EXACT","text":"Pyrimidine-responsive megaloblastic anaemia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003340","name":"obsolete Abnormal dermatological laboratory findings","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.","id":"HP:0003341","name":"Lamina lucida cleavage","obsolete":false,"parents":["HP:0033804"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blistering with junctional split"},{"scope":"EXACT","text":"Junctional split"},{"scope":"EXACT","text":"Subepidermal blistering with cleavage in the lamina lucida"}]} +{"alt_ids":[],"definition":"Reduced level of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline.","id":"HP:0003343","name":"Reduced glutathione synthetase level","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Glutathione synthetase deficiency"}]} +{"alt_ids":[],"definition":"An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine.","id":"HP:0003344","name":"3-Methylglutaric aciduria","obsolete":false,"parents":["HP:0031980"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"3-methylglutaricaciduria"}]} +{"alt_ids":[],"definition":"The concentration of noradrenaline in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0003345","name":"Elevated urinary norepinephrine level","obsolete":false,"parents":["HP:0011976"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003347","name":"obsolete Impaired lymphocyte transformation with phytohemagglutinin","obsolete":true,"parents":[],"replaced_by":["HP:0025834"],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of alanine in the blood.","id":"HP:0003348","name":"Hyperalaninemia","obsolete":false,"parents":["HP:0010916"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased blood alanine"},{"scope":"EXACT","text":"Increased serum alanine"}]} +{"alt_ids":[],"definition":"A reduction in the rate of cholesterol esterification.","id":"HP:0003349","name":"Low cholesterol esterification rate","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003263"],"definition":"An decreased level of renin in the blood.","id":"HP:0003351","name":"Decreased circulating renin concentration","obsolete":false,"parents":["HP:0040084"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating renin level"},{"scope":"EXACT","text":"Decreased plasma renin activity"},{"scope":"EXACT","text":"Low plasma renin activity"},{"scope":"EXACT","text":"Suppressed plasma renin activity"}]} +{"alt_ids":[],"definition":"An increase in the number of chromosome sets per cell in bone marrow cells.","id":"HP:0003352","name":"Endopolyploidy on chromosome studies of bone marrow","obsolete":false,"parents":["HP:0002916"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase.","id":"HP:0003353","name":"Propionyl-CoA carboxylase deficiency","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of threonine in the blood circulation is above the upper limit of normal.","id":"HP:0003354","name":"Hyperthreoninemia","obsolete":false,"parents":["HP:0010900"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating threonine"},{"scope":"EXACT","text":"Elevated threonine concentration"},{"scope":"EXACT","text":"Elevated threonine level"},{"scope":"EXACT","text":"Elevated threonine level in blood"},{"scope":"EXACT","text":"High blood threonine levels"},{"scope":"EXACT","text":"Increased threonine concentration"},{"scope":"EXACT","text":"Increased threonine level"},{"scope":"EXACT","text":"Increased threonine level in blood"}]} +{"alt_ids":["HP:0002903","HP:0008335","HP:0200014"],"definition":"An increased concentration of an amino acid in the urine.","id":"HP:0003355","name":"Aminoaciduria","obsolete":false,"parents":["HP:0025745"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormal urinary amino-acid findings"},{"scope":"EXACT","text":"High urine amino acid levels"},{"scope":"EXACT","text":"Hyperaminoaciduria"},{"scope":"EXACT","text":"Increased levels of animo acids in urine"}]} +{"alt_ids":[],"definition":"A reduction in the level of thymic horomone.","id":"HP:0003357","name":"Thymic hormone decreased","obsolete":false,"parents":["HP:0000777"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased thymic hormone"}]} +{"alt_ids":[],"definition":"An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells.","id":"HP:0003358","name":"Elevated intracellular cystine","obsolete":false,"parents":["HP:0011017"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased concentration of sulfate in the urine.","id":"HP:0003359","name":"Decreased urinary sulfate","obsolete":false,"parents":["HP:0012612"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased urinary sulfate"},{"scope":"EXACT","text":"Decreased urinary sulphate"}]} +{"alt_ids":[],"definition":"An increased concentration of tryptophan in the urine.","id":"HP:0003361","name":"Tryptophanuria","obsolete":false,"parents":["HP:0033090"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High urine tryptophan levels"}]} +{"alt_ids":[],"definition":"The concentration of very-low-density lipoprotein cholesterol in the blood circulation is above the upper limit of normal.","id":"HP:0003362","name":"Elevated circulating VLDL-C concentration","obsolete":false,"parents":["HP:0010980","HP:0031889"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated very-low-density lipoprotein cholesterol concentration"},{"scope":"EXACT","text":"Elevated very-low-density lipoprotein cholesterol level"},{"scope":"EXACT","text":"Elevated very-low-density lipoprotein cholesterol level in blood"},{"scope":"EXACT","text":"Increased circulating very-low-density lipoprotein cholesterol"},{"scope":"EXACT","text":"Increased circulating very-low-density lipoprotein levels"},{"scope":"EXACT","text":"Increased plasma VLDL cholesterol"},{"scope":"EXACT","text":"Increased very-low-density lipoprotein cholesterol concentration"},{"scope":"EXACT","text":"Increased very-low-density lipoprotein cholesterol level"},{"scope":"EXACT","text":"Increased very-low-density lipoprotein cholesterol level in blood"}]} +{"alt_ids":[],"definition":"A left-right reversal (or mirror reflection) of the anatomical location of the viscera of the abdomen.","id":"HP:0003363","name":"Abdominal situs inversus","obsolete":false,"parents":["HP:0011620"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Situs inversus visceralis"},{"scope":"EXACT","text":"Situs inversus viscerum"}]} +{"alt_ids":[],"definition":"Joint pain affecting the hip.","id":"HP:0003365","name":"Arthralgia of the hip","obsolete":false,"parents":["HP:0003272"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Coxalgia"},{"scope":"EXACT","text":"Hip arthralgia"},{"scope":"EXACT","text":"Hip joint pain"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003366","name":"Abnormal femoral neck/head morphology","obsolete":false,"parents":["HP:0002823"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal neck or head of thigh bone"},{"scope":"EXACT","text":"Abnormality of the femoral neck or head region"}]} +{"alt_ids":[],"definition":"An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).","id":"HP:0003367","name":"Abnormal femoral neck morphology","obsolete":false,"parents":["HP:0003366"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal neck of thigh bone"},{"scope":"EXACT","text":"Abnormality of the femoral neck"}]} +{"alt_ids":[],"definition":"An abnormality of the femoral head.","id":"HP:0003368","name":"Abnormal femoral head morphology","obsolete":false,"parents":["HP:0003366"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal head of thigh bone"},{"scope":"EXACT","text":"Abnormality of the femoral head"}]} +{"alt_ids":["HP:0006393"],"definition":"An abnormal flattening of the proximal epiphysis of the femur.","id":"HP:0003370","name":"Flat capital femoral epiphysis","obsolete":false,"parents":["HP:0010574","HP:0030289"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flat capital femoral epiphyses"},{"scope":"EXACT","text":"Flat end part of innermost thighbone"},{"scope":"EXACT","text":"Flat femoral capital epiphyses"},{"scope":"EXACT","text":"Flat proximal femoral epiphyses"},{"scope":"EXACT","text":"Flattened proximal femoral epiphyses"}]} +{"alt_ids":[],"definition":"An abnormal enlargement of the proximal epiphysis of the femur.","id":"HP:0003371","name":"Enlargement of the proximal femoral epiphysis","obsolete":false,"parents":["HP:0010574","HP:0010580"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged capital femoral epiphyses"},{"scope":"EXACT","text":"Enlarged end part of innermost thighbone"}]} +{"alt_ids":["HP:0008803","HP:0008805","HP:0008813","HP:0008840","HP:0008842"],"definition":"A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.","id":"HP:0003375","name":"Narrow greater sciatic notch","obsolete":false,"parents":["HP:0010456"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrow greater sacrosciatic notches"},{"scope":"EXACT","text":"Narrow sacroiliac notch"},{"scope":"EXACT","text":"Narrow sacrosciatic notch"},{"scope":"EXACT","text":"Narrow sciatic notches"},{"scope":"EXACT","text":"Narrowed greater sciatic notch"},{"scope":"EXACT","text":"Narrowed sacrosciatic notch"},{"scope":"EXACT","text":"Small sacrosciatic notch"},{"scope":"EXACT","text":"Small sacrosciatic notches"}]} +{"alt_ids":[],"definition":"An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.","id":"HP:0003376","name":"Steppage gait","obsolete":false,"parents":["HP:0001288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High stepping"}]} +{"alt_ids":[],"definition":"A pattern of simultaneous degeneration and regeneration of axons (see comment).","id":"HP:0003378","name":"Axonal degeneration/regeneration","obsolete":false,"parents":["HP:0000764"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Axon degeneration and regeneration"}]} +{"alt_ids":["HP:0003385","HP:0003386","HP:0007093","HP:0007135","HP:0007177","HP:0007320","HP:0007322"],"definition":"A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).","id":"HP:0003380","name":"Decreased number of peripheral myelinated nerve fibers","obsolete":false,"parents":["HP:0003130"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased number of large and small myelinated fibers"},{"scope":"EXACT","text":"Decreased number of large and small myelinated fibres"},{"scope":"EXACT","text":"Decreased number of peripheral myelinated nerve fibres"},{"scope":"EXACT","text":"Loss of myelinated fibers"},{"scope":"EXACT","text":"Loss of myelinated fibres"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003382","name":"Hypertrophic nerve changes","obsolete":false,"parents":["HP:0000759"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003389","HP:0007013","HP:0007022","HP:0007084","HP:0008276"],"definition":"Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.","id":"HP:0003383","name":"Onion bulb formation","obsolete":false,"parents":["HP:0003130"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Onion bulb formations"}]} +{"alt_ids":[],"definition":"Atrophic changes of axons of the peripheral nervous system.","id":"HP:0003384","name":"Peripheral axonal atrophy","obsolete":false,"parents":["HP:0000764"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006868","HP:0007031","HP:0007315"],"definition":"A reduced number of large myelinated nerve fibers.","id":"HP:0003387","name":"Decreased number of large peripheral myelinated nerve fibers","obsolete":false,"parents":["HP:0003380"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased number of large peripheral myelinated nerve fibres"},{"scope":"EXACT","text":"Depletion of large myelinated fibers"},{"scope":"EXACT","text":"Depletion of large myelinated fibres"},{"scope":"EXACT","text":"Loss of large myelinated fibers"},{"scope":"EXACT","text":"Loss of large myelinated fibres"},{"scope":"EXACT","text":"Loss of larger myelinated nerve fibers"},{"scope":"EXACT","text":"Loss of larger myelinated nerve fibres"}]} +{"alt_ids":[],"definition":"Increased susceptibility to fatigue.","id":"HP:0003388","name":"Easy fatigability","obsolete":false,"parents":["HP:0004302","HP:0012638"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Tired easily"}]} +{"alt_ids":["HP:0006883","HP:0007248","HP:0007345"],"definition":"An axonal neuropathy of peripheral sensory nerves.","id":"HP:0003390","name":"Sensory axonal neuropathy","obsolete":false,"parents":["HP:0000763","HP:0003477"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Axonal sensory neuropathy"},{"scope":"RELATED","text":"Peripheral sensory axonal neuropathy"}]} +{"alt_ids":[],"definition":"A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.","id":"HP:0003391","name":"Gowers sign","obsolete":false,"parents":["HP:0003701"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gower sign"},{"scope":"EXACT","text":"Positive Gower sign"},{"scope":"EXACT","text":"Positive Gowers sign"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003392","name":"First dorsal interossei muscle weakness","obsolete":false,"parents":["HP:0002460"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.","id":"HP:0003393","name":"Thenar muscle atrophy","obsolete":false,"parents":["HP:0009130"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thenar atrophy"}]} +{"alt_ids":["HP:0009018","HP:0031988"],"definition":"Sudden and involuntary contractions of one or more muscles.","id":"HP:0003394","name":"Muscle spasm","obsolete":false,"parents":["HP:0011804"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle cramps"},{"scope":"EXACT","text":"Muscle spasms"},{"scope":"NARROW","text":"Nocturnal hand and foot cramps"},{"scope":"NARROW","text":"Nocturnal leg cramp"},{"scope":"NARROW","text":"Sleep-related dystonia"}]} +{"alt_ids":["HP:0006933"],"definition":"Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.","id":"HP:0003396","name":"Syringomyelia","obsolete":false,"parents":["HP:0100561"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fluid-filled cyst in spinal cord"},{"scope":"EXACT","text":"Syrinx"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003397","name":"Generalized hypotonia due to defect at the neuromuscular junction","obsolete":false,"parents":["HP:0001290","HP:0003398"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised hypotonia due to defect at the neuromuscular junction"}]} +{"alt_ids":[],"definition":"Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers.","id":"HP:0003398","name":"Abnormal synaptic transmission at the neuromuscular junction","obsolete":false,"parents":["HP:0030191"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormality of neuromuscular transmission"}]} +{"alt_ids":[],"definition":"A type of onion bulb formation prominently affecting the area of the basal lamina.","id":"HP:0003400","name":"Basal lamina onion bulb formation","obsolete":false,"parents":["HP:0003383"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Basal lamina 'onion bulb' formations on nerve biopsy"}]} +{"alt_ids":["HP:0002082"],"definition":"Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.","id":"HP:0003401","name":"Paresthesia","obsolete":false,"parents":["HP:0033747"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Paresthesias"},{"scope":"EXACT","text":"Pins and needles feeling"},{"scope":"EXACT","text":"Tingling"}]} +{"alt_ids":[],"definition":"An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.","id":"HP:0003402","name":"Decreased miniature endplate potentials","obsolete":false,"parents":["HP:0003398"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased MEPP"},{"scope":"EXACT","text":"Small miniature endplate currents"},{"scope":"EXACT","text":"Small miniature endplate potentials"}]} +{"alt_ids":["HP:0003430","HP:0003478"],"definition":"A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation.","id":"HP:0003403","name":"EMG: decremental response of compound muscle action potential to repetitive nerve stimulation","obsolete":false,"parents":["HP:0100285"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"EMG: decrement at repetitive stimulation"},{"scope":"EXACT","text":"EMG: decremental response of CMAP to repetitive nerve stimulation"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003405","name":"Diffuse axonal swelling","obsolete":false,"parents":["HP:0000759"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003406","name":"Peripheral nerve compression","obsolete":false,"parents":["HP:0000759"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006984"],"definition":"Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities.","id":"HP:0003409","name":"Distal sensory impairment of all modalities","obsolete":false,"parents":["HP:0000763"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Distal sensory loss to all modalities"}]} +{"alt_ids":[],"definition":"Irregularity of the normally smooth surface of the proximal metaphysis of the femur.","id":"HP:0003411","name":"Proximal femoral metaphyseal irregularity","obsolete":false,"parents":["HP:0003366","HP:0006431","HP:0030291"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular proximal femoral metaphyses"}]} +{"alt_ids":[],"definition":"An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae.","id":"HP:0003413","name":"Atlantoaxial abnormality","obsolete":false,"parents":["HP:0000925"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Partial dislocation of the atlantoaxial joint.","id":"HP:0003414","name":"Atlantoaxial dislocation","obsolete":false,"parents":["HP:0003413"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atlanto-axial subluxation"},{"scope":"EXACT","text":"Atlantoaxial subluxation"}]} +{"alt_ids":["HP:0008446"],"definition":"An abnormal narrowing of the spinal canal.","id":"HP:0003416","name":"Spinal canal stenosis","obsolete":false,"parents":["HP:0000925"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrow spinal canal"},{"scope":"EXACT","text":"Spinal stenosis"}]} +{"alt_ids":["HP:0003673"],"definition":"Frontal schisis (cleft or cleavage) of vertebral bodies.","id":"HP:0003417","name":"Coronal cleft vertebrae","obsolete":false,"parents":["HP:0008428"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Coronal clefts"},{"scope":"EXACT","text":"Coronal vertebral clefts"},{"scope":"EXACT","text":"Vertebral coronal clefts"},{"scope":"EXACT","text":"coronal cleft of vertebrae"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.","id":"HP:0003418","name":"Back pain","obsolete":false,"parents":["HP:0000925","HP:0012531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Back pain"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.","id":"HP:0003419","name":"Low back pain","obsolete":false,"parents":["HP:0003418"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lower back pain"},{"scope":"EXACT","text":"Lumbago"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003421","name":"obsolete Platyspondyly (childhood)","obsolete":true,"parents":[],"replaced_by":["HP:0000926"],"synonyms":[]} +{"alt_ids":["HP:0005705"],"definition":"An abnormality related to a defect of vertebral separation during development.","id":"HP:0003422","name":"Vertebral segmentation defect","obsolete":false,"parents":["HP:0003468"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal spinal segmentation"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003423","name":"Thoracolumbar kyphoscoliosis","obsolete":false,"parents":["HP:0002751","HP:0002944","HP:0005619"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dorsolumbar kyphosis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003426","name":"First dorsal interossei muscle atrophy","obsolete":false,"parents":["HP:0007181"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003427","name":"Thenar muscle weakness","obsolete":false,"parents":["HP:0030237"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.","id":"HP:0003429","name":"CNS hypomyelination","obsolete":false,"parents":["HP:0011400"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0000760","HP:0003379","HP:0003395","HP:0003437","HP:0006907","HP:0008170"],"definition":"A type of decreased nerve conduction velocity that affects the motor neuron.","id":"HP:0003431","name":"Decreased motor nerve conduction velocity","obsolete":false,"parents":["HP:0000762","HP:0040131"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased motor NCV"},{"scope":"EXACT","text":"Decreased motor nerve conduction velocities"},{"scope":"EXACT","text":"Reduced motor nerve conduction velocity"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003434","name":"Sensory ataxic neuropathy","obsolete":false,"parents":["HP:0000763"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003435","name":"Cold-induced hand cramps","obsolete":false,"parents":["HP:0003449"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003479"],"definition":"An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.","id":"HP:0003436","name":"Prolonged miniature endplate currents","obsolete":false,"parents":["HP:0003398"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prolonged MEPC"},{"scope":"EXACT","text":"Prolonged MEPP"},{"scope":"EXACT","text":"Prolonged miniature endplate potentials"}]} +{"alt_ids":["HP:0007032","HP:0007241"],"definition":"Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.","id":"HP:0003438","name":"Absent Achilles reflex","obsolete":false,"parents":["HP:0200101"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent ankle reflexes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003440","name":"Horizontal sacrum","obsolete":false,"parents":["HP:0005107"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction in the size of nerve terminals.","id":"HP:0003443","name":"Decreased size of nerve terminals","obsolete":false,"parents":["HP:0000759"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007059"],"definition":"Evidence of chronic denervation on electromyography.","id":"HP:0003444","name":"EMG: chronic denervation signs","obsolete":false,"parents":["HP:0003445"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002178","HP:0002547","HP:0007279"],"definition":"The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).","id":"HP:0003445","name":"EMG: neuropathic changes","obsolete":false,"parents":["HP:0003457"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EMG: neurogenic abnormalities"},{"scope":"EXACT","text":"EMG: neurogenic changes"},{"scope":"EXACT","text":"EMG: neurogenic findings"}]} +{"alt_ids":["HP:0003360"],"definition":"A reduction in the number of axons in the peripheral nervous system.","id":"HP:0003447","name":"Axonal loss","obsolete":false,"parents":["HP:0000764"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006914"],"definition":"Reduced speed of conduction of the action potential along a sensory nerve.","id":"HP:0003448","name":"Decreased sensory nerve conduction velocity","obsolete":false,"parents":["HP:0000762","HP:0040132"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased sensory NCV"},{"scope":"EXACT","text":"Decreased sensory nerve conduction velocities"}]} +{"alt_ids":[],"definition":"Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures.","id":"HP:0003449","name":"Cold-induced muscle cramps","obsolete":false,"parents":["HP:0003394"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of axonal regeneration following a previous axonal lesion.","id":"HP:0003450","name":"Axonal regeneration","obsolete":false,"parents":["HP:0000764"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Regenerative activity on nerve biopsy"}]} +{"alt_ids":[],"definition":"An increased rate of premature chromosome condensation.","id":"HP:0003451","name":"Increased rate of premature chromosome condensation","obsolete":false,"parents":["HP:0011019"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of iron cation in the blood circulation is above the upper limit of normal.","id":"HP:0003452","name":"Elevated circulating iron concentration","obsolete":false,"parents":["HP:0040130"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated iron cation concentration"},{"scope":"EXACT","text":"Elevated iron cation level"},{"scope":"EXACT","text":"Elevated iron cation level in blood"},{"scope":"EXACT","text":"Increased circulating iron concentration"},{"scope":"EXACT","text":"Increased iron cation concentration"},{"scope":"EXACT","text":"Increased iron cation level"},{"scope":"EXACT","text":"Increased iron cation level in blood"},{"scope":"EXACT","text":"Increased serum iron"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the serum that react against neutrophils.","id":"HP:0003453","name":"Antineutrophil antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Antineutrophil antibodies"},{"scope":"EXACT","text":"Neutrophil antibody positive"}]} +{"alt_ids":[],"definition":"The presence in the serum of autoantibodies directed against thrombocytes.","id":"HP:0003454","name":"Platelet antibody positive","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Platelet antibody"}]} +{"alt_ids":["HP:0008333","HP:0045016"],"definition":"Increased concentration of long-chain fatty acids in the blood circulation.","id":"HP:0003455","name":"Elevated circulating long chain fatty acid concentration","obsolete":false,"parents":["HP:0010964"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated long chain fatty acids"},{"scope":"EXACT","text":"Elevated serum long-chain fatty acids"},{"scope":"EXACT","text":"Increased serum long-chain fatty acids"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003456","name":"Low urinary cyclic AMP response to PTH administration","obsolete":false,"parents":["HP:0003110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002177","HP:0003751","HP:0003753","HP:0100286"],"definition":"Abnormal results of investigations using electromyography (EMG).","id":"HP:0003457","name":"EMG abnormality","obsolete":false,"parents":["HP:0011804"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal EMG"},{"scope":"EXACT","text":"Abnormal electromyography finding"},{"scope":"EXACT","text":"EMG abnormalities"},{"scope":"EXACT","text":"Electromyogram abnormal"}]} +{"alt_ids":["HP:0003322","HP:0003711","HP:0009021"],"definition":"The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.","id":"HP:0003458","name":"EMG: myopathic abnormalities","obsolete":false,"parents":["HP:0003198","HP:0003457"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EMG: myopathic changes"},{"scope":"EXACT","text":"EMG: myopathy"},{"scope":"EXACT","text":"Myopathic electromyogram"}]} +{"alt_ids":[],"definition":"A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis.","id":"HP:0003459","name":"Polyclonal elevation of circulating IgM concentration","obsolete":false,"parents":["HP:0003496"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L).","id":"HP:0003460","name":"Chronic decreased circulating IgA concentration","obsolete":false,"parents":["HP:0002720"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased total IgA in blood"},{"scope":"EXACT","text":"Total immunoglobulin A deficiency"}]} +{"alt_ids":[],"definition":"Excretion of peptides conjugated to sialic acid in the urine.","id":"HP:0003461","name":"Increased urinary O-linked sialopeptides","obsolete":false,"parents":["HP:0012067"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003462","name":"Elevated 8-dehydrocholesterol","obsolete":false,"parents":["HP:0003107"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.","id":"HP:0003463","name":"Increased extraneuronal autofluorescent lipopigment","obsolete":false,"parents":["HP:0011813"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Lipopigment in extraneuronal cells"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003464","name":"obsolete Abnormal cholesterol homeostasis","obsolete":true,"parents":[],"replaced_by":["HP:0003107"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003465","name":"Elevated 8(9)-cholestenol","obsolete":false,"parents":["HP:0003107"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003466","name":"Paradoxical increased cortisol secretion on dexamethasone suppression test","obsolete":false,"parents":["HP:0011731"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly.","id":"HP:0003467","name":"Atlantoaxial instability","obsolete":false,"parents":["HP:0003413"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005719"],"definition":"An abnormality of one or more of the vertebrae.","id":"HP:0003468","name":"Abnormal vertebral morphology","obsolete":false,"parents":["HP:0000925"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal vertebrae"},{"scope":"EXACT","text":"Abnormality of the vertebrae"},{"scope":"RELATED","text":"Multiple vertebral anomalies"},{"scope":"EXACT","text":"Vertebral anomalies"}]} +{"alt_ids":[],"definition":"Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination.","id":"HP:0003469","name":"Peripheral dysmyelination","obsolete":false,"parents":["HP:0003130"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.","id":"HP:0003470","name":"Paralysis","obsolete":false,"parents":["HP:0011442"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inability to move"},{"scope":"EXACT","text":"Paralysis"}]} +{"alt_ids":[],"definition":"Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms.","id":"HP:0003472","name":"Hypocalcemic tetany","obsolete":false,"parents":["HP:0012638"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003399","HP:0003428","HP:0100794"],"definition":"A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.","id":"HP:0003473","name":"Fatigable weakness","obsolete":false,"parents":["HP:0001324","HP:0003398"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fatigable weakness of limb muscles"},{"scope":"EXACT","text":"Generalised muscle weakness due to defect at the neuromuscular junction"},{"scope":"EXACT","text":"Generalized muscle weakness due to defect at the neuromuscular junction"},{"scope":"EXACT","text":"Myasthenia"},{"scope":"EXACT","text":"Myasthenic weakness"},{"scope":"EXACT","text":"Proximal muscle weakness due to defect at the neuromuscular junction"}]} +{"alt_ids":["HP:0100964"],"definition":"An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.","id":"HP:0003474","name":"Somatic sensory dysfunction","obsolete":false,"parents":["HP:0012638"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sensory impairment"}]} +{"alt_ids":["HP:0006814","HP:0006842","HP:0007169","HP:0008304"],"definition":"An abnormality characterized by disruption of the normal functioning of peripheral axons.","id":"HP:0003477","name":"Peripheral axonal neuropathy","obsolete":false,"parents":["HP:0000764","HP:0009830"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Axonal neuropathy"},{"scope":"EXACT","text":"Axonal peripheral neuropathy"}]} +{"alt_ids":["HP:0003425"],"definition":"A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.","id":"HP:0003481","name":"Segmental peripheral demyelination/remyelination","obsolete":false,"parents":["HP:0011096"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Segmental demyelination/remyelination"}]} +{"alt_ids":[],"definition":"Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials.","id":"HP:0003482","name":"EMG: axonal abnormality","obsolete":false,"parents":["HP:0003457"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Weakness of the muscles of the arms.","id":"HP:0003484","name":"Upper limb muscle weakness","obsolete":false,"parents":["HP:0003690"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased arm strength"},{"scope":"EXACT","text":"Weak arm"}]} +{"alt_ids":["HP:0001352"],"definition":"Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.","id":"HP:0003487","name":"Babinski sign","obsolete":false,"parents":["HP:0007256","HP:0031828"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extensor plantar reflexes"},{"scope":"EXACT","text":"Extensor plantar response"},{"scope":"EXACT","text":"Extensor plantar responses"},{"scope":"EXACT","text":"Positive Babinski sign"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003489","name":"Acute episodes of neuropathic symptoms","obsolete":false,"parents":["HP:0009830"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003490","name":"obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA","obsolete":true,"parents":[],"replaced_by":["HP:0003150"],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.","id":"HP:0003491","name":"Elevated urine pyrophosphate","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism.","id":"HP:0003492","name":"High urinary gonadotropin level","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the serum that react against nuclei or nuclear components.","id":"HP:0003493","name":"Antinuclear antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Antinuclear antibodies"},{"scope":"EXACT","text":"Antinuclear antibody positive"},{"scope":"EXACT","text":"Elevated antinuclear antibody"},{"scope":"EXACT","text":"Serum antinuclear antibody"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003494","name":"obsolete Loss of heterozygosity, multiple chromosomes","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cellular accumulation of GM2 gangliosides.","id":"HP:0003495","name":"GM2-ganglioside accumulation","obsolete":false,"parents":["HP:0004345"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002962"],"definition":"An abnormally increased level of immunoglobulin M in blood.","id":"HP:0003496","name":"Increased circulating IgM concentration","obsolete":false,"parents":["HP:0010702","HP:0410243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased IgM levels"},{"scope":"EXACT","text":"Increased levels of IgM"}]} +{"alt_ids":["HP:0008895","HP:0008900"],"definition":"A kind of short stature in which different regions of the body are shortened to differing extents.","id":"HP:0003498","name":"Disproportionate short stature","obsolete":false,"parents":["HP:0004322"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short stature, disproportionate"},{"scope":"RELATED","text":"Short stature, severe disproportionate"}]} +{"alt_ids":["HP:0003503","HP:0008879","HP:0008908"],"definition":"A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.","id":"HP:0003502","name":"Mild short stature","obsolete":false,"parents":["HP:0003508"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Relative short stature"},{"scope":"EXACT","text":"short stature, mild"}]} +{"alt_ids":["HP:0003499"],"definition":"A kind of short stature in which different regions of the body are shortened to a comparable extent.","id":"HP:0003508","name":"Proportionate short stature","obsolete":false,"parents":["HP:0004322"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Proportionate small stature"},{"scope":"EXACT","text":"Short stature, proportionate"}]} +{"alt_ids":["HP:0001424","HP:0001516","HP:0003504","HP:0008867","HP:0008884","HP:0008907","HP:0008920","HP:0008930"],"definition":"A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.","id":"HP:0003510","name":"Severe short stature","obsolete":false,"parents":["HP:0003508"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dwarfism"},{"scope":"EXACT","text":"Proportionate dwarfism"},{"scope":"EXACT","text":"Severe short stature"},{"scope":"EXACT","text":"Short stature, extreme"},{"scope":"EXACT","text":"Short stature, severe"}]} +{"alt_ids":[],"definition":"A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01.","id":"HP:0003513","name":"Reduced ratio of renal calcium clearance to creatinine clearance","obsolete":false,"parents":["HP:0011280"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced ration of kidney calcium clearance to creatinine clearance"},{"scope":"EXACT","text":"Reduced ration of renal Ca clearance to creatinine clearance"},{"scope":"EXACT","text":"Reduced ration of renal Ca2+ to creatinine clearance"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003514","name":"Deficiency or absence of cytochrome b(-245)","obsolete":false,"parents":["HP:0003287"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deficiency or absence of cytochrome b"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003517","name":"Birth length greater than 97th percentile","obsolete":false,"parents":["HP:0000098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fetal overgrowth"},{"scope":"EXACT","text":"Foetal overgrowth"}]} +{"alt_ids":["HP:0001524","HP:0003500","HP:0008923"],"definition":"A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.","id":"HP:0003521","name":"Disproportionate short-trunk short stature","obsolete":false,"parents":["HP:0003498","HP:0009121"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disproportionate short-trunked dwarfism"},{"scope":"EXACT","text":"Disproportionate short-trunked short stature"},{"scope":"EXACT","text":"Short-trunked dwarfism"}]} +{"alt_ids":[],"definition":"A reduction in methionine synthase activity.","id":"HP:0003524","name":"Decreased methionine synthase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased activity of methionine synthase"},{"scope":"EXACT","text":"Methionine synthase activity decreased"},{"scope":"EXACT","text":"Methionine synthase deficiency"},{"scope":"EXACT","text":"Reduced methionine synthase activity"}]} +{"alt_ids":[],"definition":"Formation of crystals owing to an increased concentration of orotic acid in the urine.","id":"HP:0003526","name":"Orotic acid crystalluria","obsolete":false,"parents":["HP:0020074"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of prostaglandin in the urine.","id":"HP:0003527","name":"Hyperprostaglandinuria","obsolete":false,"parents":["HP:6000531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High urine prostaglandin levels"}]} +{"alt_ids":[],"definition":"Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation above the upper limit of normal.","id":"HP:0003528","name":"Elevated circulating calcitonin concentration","obsolete":false,"parents":["HP:0034902"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated calcitonin"}]} +{"alt_ids":[],"definition":"An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels.","id":"HP:0003529","name":"Parathormone-independent increased renal tubular calcium reabsorption","obsolete":false,"parents":["HP:0003110"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Parathormone-independent increased renal tubular Ca reabsorption"},{"scope":"EXACT","text":"Parathormone-independent increased renal tubular Ca2+ reabsorption"}]} +{"alt_ids":[],"definition":"The concentration of glutaric acid in the blood circulation is above the upper limit of normal.","id":"HP:0003530","name":"Elevated circulating glutaric acid concentration","obsolete":false,"parents":["HP:0010995","HP:0032368"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated glutaric acid concentration"},{"scope":"EXACT","text":"Elevated glutaric acid level"},{"scope":"EXACT","text":"Elevated glutaric acid level in blood"},{"scope":"EXACT","text":"Glutarate acidemia"},{"scope":"EXACT","text":"Glutaric acidemia"},{"scope":"EXACT","text":"Increased glutaric acid concentration"},{"scope":"EXACT","text":"Increased glutaric acid level"},{"scope":"EXACT","text":"Increased glutaric acid level in blood"}]} +{"alt_ids":[],"definition":"Level of ornithine in the urine above the upper limit of normal.","id":"HP:0003532","name":"Ornithinuria","obsolete":false,"parents":["HP:0033098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ornithine high in urine"}]} +{"alt_ids":[],"definition":"Decreased level of acetaldehyde dehydrogenase (ALDH). ALDH and alcohol dehydrogenase (ADH) are the primary enzymes involved in alcohol metabolism.","id":"HP:0003533","name":"Reduced acetaldehyde dehydrogenase level","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delayed oxidation of acetaldehyde"}]} +{"alt_ids":[],"definition":"An abnormal reduction in xanthine dehydrogenase level.","id":"HP:0003534","name":"Reduced xanthine dehydrogenase level","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Xanthine dehydrogenase deficiency"}]} +{"alt_ids":[],"definition":"An increased amount of 3-methylglutaconic acid in the urine.","id":"HP:0003535","name":"3-Methylglutaconic aciduria","obsolete":false,"parents":["HP:0031980"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"3-Methylglutaconicaciduria"}]} +{"alt_ids":[],"definition":"An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity.","id":"HP:0003536","name":"Decreased fumarate hydratase activity","obsolete":false,"parents":["HP:0000816"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of uric acid in the blood circulation is below the lower limit of normal.","id":"HP:0003537","name":"Hypouricemia","obsolete":false,"parents":["HP:0002157","HP:0010932"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased uric acid concentration"},{"scope":"EXACT","text":"Decreased uric acid level"},{"scope":"EXACT","text":"Decreased uric acid level in blood"},{"scope":"EXACT","text":"Low blood uric acid levels"},{"scope":"EXACT","text":"Reduced uric acid concentration"},{"scope":"EXACT","text":"Reduced uric acid level"},{"scope":"EXACT","text":"Reduced uric acid level in blood"}]} +{"alt_ids":[],"definition":"An increased level of iduronate-2-sulfatase activity in the blood.","id":"HP:0003538","name":"Increased iduronate sulfatase level","obsolete":false,"parents":["HP:0034202"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Increased serum iduronate sulfatase"},{"scope":"EXACT","text":"Increased serum iduronate sulfatase level"}]} +{"alt_ids":["HP:0008177"],"definition":"An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.","id":"HP:0003540","name":"Impaired platelet aggregation","obsolete":false,"parents":["HP:0030402"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Defective platelet aggregation"},{"scope":"EXACT","text":"Deficient platelet aggregation"},{"scope":"EXACT","text":"Platelet aggregation defect"}]} +{"alt_ids":[],"definition":"Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit.","id":"HP:0003541","name":"Urinary glycosaminoglycan excretion","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of pyruvate in the blood circulation is above the upper limit of normal.","id":"HP:0003542","name":"Increased circulating pyruvate concentration","obsolete":false,"parents":["HP:0010996"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased serum pyruvate"},{"scope":"EXACT","text":"Increased serum pyruvic acid"}]} +{"alt_ids":[],"definition":"A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.","id":"HP:0003546","name":"Exercise intolerance","obsolete":false,"parents":["HP:0025142"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased ability to exercise"},{"scope":"EXACT","text":"Inability to exercise"},{"scope":"EXACT","text":"Low exercise endurance"},{"scope":"EXACT","text":"Poor exercise tolerance"}]} +{"alt_ids":["HP:0003695","HP:0009009"],"definition":"The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.","id":"HP:0003547","name":"Shoulder girdle muscle weakness","obsolete":false,"parents":["HP:0001435","HP:0003325"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle weakness, shoulder-girdle"},{"scope":"EXACT","text":"Shoulder girdle weakness"},{"scope":"EXACT","text":"Shoulder weakness"},{"scope":"EXACT","text":"Weak shoulder muscles"}]} +{"alt_ids":[],"definition":"An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology.","id":"HP:0003548","name":"Subsarcolemmal accumulations of abnormally shaped mitochondria","obsolete":false,"parents":["HP:0003800"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).","id":"HP:0003549","name":"Abnormality of connective tissue","obsolete":false,"parents":["HP:0033127"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.","id":"HP:0003550","name":"Predominantly lower limb lymphedema","obsolete":false,"parents":["HP:0001004"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007019"],"definition":"Reduced ability to climb stairs.","id":"HP:0003551","name":"Difficulty climbing stairs","obsolete":false,"parents":["HP:0004302"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Difficulty walking up stairs"}]} +{"alt_ids":["HP:0009014"],"definition":"A condition in which muscles cannot be moved quickly without accompanying pain or spasm.","id":"HP:0003552","name":"Muscle stiffness","obsolete":false,"parents":["HP:0011804"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003553","name":"obsolete Cellulitis due to immunodeficiency","obsolete":true,"parents":[],"replaced_by":["HP:0100658"],"synonyms":[]} +{"alt_ids":[],"definition":"Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy.","id":"HP:0003554","name":"Type 2 muscle fiber atrophy","obsolete":false,"parents":["HP:0100295"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Type 2 fiber atrophy"},{"scope":"EXACT","text":"Type 2 fibre atrophy"},{"scope":"EXACT","text":"Type 2 muscle fibre atrophy"}]} +{"alt_ids":[],"definition":"Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches.","id":"HP:0003555","name":"Muscle fiber splitting","obsolete":false,"parents":["HP:0004303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fiber splitting"},{"scope":"EXACT","text":"Fibre splitting"}]} +{"alt_ids":["HP:0003556"],"definition":"An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.","id":"HP:0003557","name":"Increased variability in muscle fiber diameter","obsolete":false,"parents":["HP:0012084"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased fiber size variation"},{"scope":"EXACT","text":"Increased fibre size variation"},{"scope":"EXACT","text":"Increased variability in muscle fiber size"},{"scope":"EXACT","text":"Increased variability in muscle fibre diameter"},{"scope":"EXACT","text":"Increased variability in muscle fibre size"},{"scope":"EXACT","text":"Increased variation in fiber size"},{"scope":"EXACT","text":"Increased variation in fibre size"},{"scope":"EXACT","text":"Increased variation in muscle fiber size"},{"scope":"EXACT","text":"Increased variation in muscle fibre size"},{"scope":"EXACT","text":"Variation in muscle fiber size"},{"scope":"EXACT","text":"Variation in muscle fibre size"}]} +{"alt_ids":[],"definition":"Rhabdomyolysis induced by a viral infection.","id":"HP:0003558","name":"Viral infection-induced rhabdomyolysis","obsolete":false,"parents":["HP:0003201"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003559","name":"Muscle hyperirritability","obsolete":false,"parents":["HP:0011804"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003544","HP:0003741","HP:0003793","HP:0003806","HP:0007081"],"definition":"The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.","id":"HP:0003560","name":"Muscular dystrophy","obsolete":false,"parents":["HP:0011805"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Congenital muscular dystrophy"},{"scope":"RELATED","text":"Muscle biopsy shows dystrophic changes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003561","name":"Birth length less than 3rd percentile","obsolete":false,"parents":["HP:0004322"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Birth length < 3rd percentile"},{"scope":"EXACT","text":"Birth length <3rd percentile"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003562","name":"Abnormal metaphyseal vascular invasion","obsolete":false,"parents":["HP:0000944"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of low-density lipoprotein cholesterol in the blood circulation is below the lower limit of normal.","id":"HP:0003563","name":"Decreased circulating LDL-C concentration","obsolete":false,"parents":["HP:0010981","HP:0031886"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Decreased LDL"},{"scope":"EXACT","text":"Decreased LDLc concentration"},{"scope":"EXACT","text":"Decreased circulating low-density lipoprotein levels"},{"scope":"EXACT","text":"Decreased low-density lipoprotein cholesterol concentration"},{"scope":"EXACT","text":"Decreased low-density lipoprotein cholesterol level"},{"scope":"EXACT","text":"Decreased low-density lipoprotein cholesterol level in blood"},{"scope":"EXACT","text":"Hypobetalipoproteinemia"},{"scope":"EXACT","text":"Reduced low-density lipoprotein cholesterol concentration"},{"scope":"EXACT","text":"Reduced low-density lipoprotein cholesterol level"},{"scope":"EXACT","text":"Reduced low-density lipoprotein cholesterol level in blood"}]} +{"alt_ids":[],"definition":"The presence of a folate sensitive fragile site at chromosome Xq28.","id":"HP:0003564","name":"Folate-dependent fragile site at Xq28","obsolete":false,"parents":["HP:0040012"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.","id":"HP:0003565","name":"Elevated erythrocyte sedimentation rate","obsolete":false,"parents":["HP:0025021","HP:0033331"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated ESR"},{"scope":"EXACT","text":"Elevated sedimentation rate"},{"scope":"EXACT","text":"High ESR"},{"scope":"EXACT","text":"High erythrocyte sedimentation rate"},{"scope":"EXACT","text":"Increased erythrocyte sedimentation rate"},{"scope":"EXACT","text":"Raised erythrocyte sedimentation rate"}]} +{"alt_ids":["HP:0008298"],"definition":"An increased concentration of prostaglandin E2 in the blood.","id":"HP:0003566","name":"Increased serum prostaglandin E2","obsolete":false,"parents":["HP:0011023"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated prostaglandin E2"}]} +{"alt_ids":["HP:0003290"],"definition":"A decreased level of glucose-6-phosphate isomerase.","id":"HP:0003568","name":"Decreased glucosephosphate isomerase level","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased glucose phosphate isomerase activity"},{"scope":"EXACT","text":"Glucosephosphate isomerase deficiency"},{"scope":"EXACT","text":"Phosphohexose isomerase deficiency"}]} +{"alt_ids":[],"definition":"Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase.","id":"HP:0003570","name":"Molybdenum cofactor deficiency","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased concentration of proprionic acid in the blood circulation.","id":"HP:0003571","name":"Propionic acidemia","obsolete":false,"parents":["HP:0032368"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of citrulline in the blood circulation is below the lower limit of normal.","id":"HP:0003572","name":"Decreased circulating citrulline concentration","obsolete":false,"parents":["HP:0011965"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased citrulline concentration"},{"scope":"EXACT","text":"Decreased citrulline level"},{"scope":"EXACT","text":"Decreased citrulline level in blood"},{"scope":"EXACT","text":"Reduced citrulline concentration"},{"scope":"EXACT","text":"Reduced citrulline level"},{"scope":"EXACT","text":"Reduced citrulline level in blood"}]} +{"alt_ids":["HP:0008168"],"definition":"Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.","id":"HP:0003573","name":"Increased total bilirubin","obsolete":false,"parents":["HP:0002904"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High bili total"},{"scope":"EXACT","text":"Increased bilirubin"}]} +{"alt_ids":[],"definition":"A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension.","id":"HP:0003574","name":"Positive regitine blocking test","obsolete":false,"parents":["HP:0002640"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased sodium concentration in the cytosol.","id":"HP:0003575","name":"Increased intracellular sodium","obsolete":false,"parents":["HP:0011017"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High intracellular Na"},{"scope":"EXACT","text":"Increased intracellular Na+ levels"}]} +{"alt_ids":["HP:0003595","HP:0003601","HP:0003624","HP:0003660","HP:0003666"],"definition":"A phenotypic abnormality that is present at birth.","id":"HP:0003577","name":"Congenital onset","obsolete":false,"parents":["HP:0003674"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Onset at birth"},{"scope":"EXACT","text":"Symptoms present at birth"}]} +{"alt_ids":["HP:0003585","HP:0003598","HP:0003627","HP:0003662","HP:0003669"],"definition":"Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.","id":"HP:0003581","name":"Adult onset","obsolete":false,"parents":["HP:0003674"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Onset in adulthood"},{"scope":"EXACT","text":"Onset in early adulthood"},{"scope":"EXACT","text":"Symptoms begin in adulthood"}]} +{"alt_ids":[],"definition":"A type of adult onset with onset of symptoms after the age of 60 years.","id":"HP:0003584","name":"Late onset","obsolete":false,"parents":["HP:0003581"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Gradual, very slow onset of disease manifestations.","id":"HP:0003587","name":"Insidious onset","obsolete":false,"parents":["HP:0011008"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gradual onset"}]} +{"alt_ids":["HP:0003576","HP:0003579","HP:0003591","HP:0003594","HP:0003599","HP:0003600","HP:0003629","HP:0003631","HP:0003667","HP:0003672","HP:0010573"],"definition":"Onset of signs or symptoms of disease between 28 days to one year of life.","id":"HP:0003593","name":"Infantile onset","obsolete":false,"parents":["HP:0410280"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Infantile onset"},{"scope":"EXACT","text":"Onset in first year of life"},{"scope":"EXACT","text":"Onset in infancy"}]} +{"alt_ids":[],"definition":"A type of adult onset with onset of symptoms at the age of 40 to 60 years.","id":"HP:0003596","name":"Middle age onset","obsolete":false,"parents":["HP:0003581"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine.","id":"HP:0003606","name":"Absent urinary urothione","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0033304"],"definition":"Increased concentration of 4-hydroxyphenylacetic acid in the urine.","id":"HP:0003607","name":"4-hydroxyphenylacetic aciduria","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urine 4-hydroxyphenylacetic acid level"}]} +{"alt_ids":[],"definition":"The presence of foam cells that contain lamellar inclusion bodies.","id":"HP:0003609","name":"Foam cells with lamellar inclusion bodies","obsolete":false,"parents":["HP:0003651"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased cytoplasmic staining of fibroblasts with toluidine blue.","id":"HP:0003610","name":"Fibroblast metachromasia","obsolete":false,"parents":["HP:0003653"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood.","id":"HP:0003612","name":"Positive ferric chloride test","obsolete":false,"parents":["HP:0010893"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive FeCl3 test"}]} +{"alt_ids":[],"definition":"The presence of circulating autoantibodies to phospholipids.","id":"HP:0003613","name":"Antiphospholipid antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Antiphospholipid antibodies"},{"scope":"EXACT","text":"Antiphospholipid antibody"},{"scope":"EXACT","text":"Phospholipid antibody positivity"}]} +{"alt_ids":[],"definition":"Increased concentration of trimethylamine in the urine.","id":"HP:0003614","name":"Trimethylaminuria","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High urine trimethylamine levels"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003616","name":"Premature separation of centromeric heterochromatin","obsolete":false,"parents":["HP:0200024"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003578","HP:0003580","HP:0003582","HP:0003583","HP:0003589","HP:0003592","HP:0003604","HP:0003619","HP:0003620","HP:0003625","HP:0003659","HP:0003661","HP:0003670"],"definition":"Onset of signs or symptoms of disease between the age of 5 and 15 years.","id":"HP:0003621","name":"Juvenile onset","obsolete":false,"parents":["HP:0410280"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Signs and symptoms begin before 15 years of age"}]} +{"alt_ids":["HP:0003622"],"definition":"Onset of signs or symptoms of disease within the first 28 days of life.","id":"HP:0003623","name":"Neonatal onset","obsolete":false,"parents":["HP:0003674"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neonatal onset"},{"scope":"EXACT","text":"Onset in first weeks of life"},{"scope":"EXACT","text":"Onset in neonatal period"}]} +{"alt_ids":["HP:0008990"],"definition":"Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue.","id":"HP:0003634","name":"Amyoplasia","obsolete":false,"parents":["HP:0100854"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent muscles since birth"},{"scope":"EXACT","text":"Congenital absence of muscles"}]} +{"alt_ids":["HP:0003757"],"definition":"Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.","id":"HP:0003635","name":"Loss of subcutaneous adipose tissue in limbs","obsolete":false,"parents":["HP:0008887"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Loss of fat tissue below the skin in limbs"},{"scope":"EXACT","text":"Loss of subcutaneous adipose tissue from extremities"}]} +{"alt_ids":[],"definition":"Activity or concentration of 4-hydroxyphenylpyruvate dioxygenase in the blood circulation below the lower limit of normal.","id":"HP:0003637","name":"Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced 4-Hydroxyphenylpyruvate dioxygenase level"},{"scope":"EXACT","text":"Reducted HPPD activity"}]} +{"alt_ids":[],"definition":"The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0003639","name":"Elevated urinary epinephrine level","obsolete":false,"parents":["HP:0011976"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased urinary epinephrine"}]} +{"alt_ids":[],"definition":"The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the central nervous system.","id":"HP:0003640","name":"CNS foam cells","obsolete":false,"parents":["HP:0003651"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of free hemoglobin in the urine.","id":"HP:0003641","name":"Hemoglobinuria","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Haemoglobin in urine"},{"scope":"EXACT","text":"Hemoglobin in urine"}]} +{"alt_ids":[],"definition":"Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II.","id":"HP:0003642","name":"Type I transferrin isoform profile","obsolete":false,"parents":["HP:0003160"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal isoelectric focusing of serum transferrin, type I pattern"},{"scope":"EXACT","text":"Isoelectric focusing of serum transferrin consistent with CDG type I"},{"scope":"EXACT","text":"Type 1 transferrin isoform profile"}]} +{"alt_ids":[],"definition":"Abnormally reduced sulfite oxidase level.","id":"HP:0003643","name":"Sulfite oxidase deficiency","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.","id":"HP:0003645","name":"Prolonged partial thromboplastin time","obsolete":false,"parents":["HP:0001928"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal partial thromboplastin time"},{"scope":"EXACT","text":"Delayed thromboplastin generation"},{"scope":"EXACT","text":"Partial thromboplastin time prolonged"},{"scope":"EXACT","text":"Prolonged PTT"},{"scope":"EXACT","text":"Prolonged activated partial thromboplastin time"}]} +{"alt_ids":[],"definition":"Abnormally increased concentration of hydrogencarbonate in the urine.","id":"HP:0003646","name":"Bicarbonaturia","obsolete":false,"parents":["HP:0011279"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased urine HCO3 concentration"},{"scope":"EXACT","text":"Increased urine bicarbonate concentration"}]} +{"alt_ids":[],"definition":"A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase.","id":"HP:0003647","name":"Electron transfer flavoprotein-ubiquinone oxidoreductase defect","obsolete":false,"parents":["HP:0003287"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of lactic acid in the urine.","id":"HP:0003648","name":"Lacticaciduria","obsolete":false,"parents":["HP:0012072"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High urine lactic acid levels"},{"scope":"EXACT","text":"Increased urine lactate"}]} +{"alt_ids":[],"definition":"Abnormality of glycosidase enzyme activity. Glycoside hydrolases (GHs), including glycosidases and transglycosidases. These enzymes constitute 113 protein families that are responsible for the hydrolysis and/or transglycosylation of glycosidic bonds.","id":"HP:0003649","name":"Abnormal glycosidase enzyme activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of glycoside metabolism"}]} +{"alt_ids":["HP:0003650"],"definition":"The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance.","id":"HP:0003651","name":"Foam cells","obsolete":false,"parents":["HP:0002621"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foamy histiocytes"},{"scope":"EXACT","text":"Foamy macrophages"},{"scope":"EXACT","text":"Lipid-laden histiocytes"},{"scope":"EXACT","text":"Presence of foam cells"}]} +{"alt_ids":["HP:0008313"],"definition":"Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue.","id":"HP:0003652","name":"Recurrent myoglobinuria","obsolete":false,"parents":["HP:0002913"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Myoglobinuria, episodic"},{"scope":"EXACT","text":"Myoglobinuria, recurrent"}]} +{"alt_ids":[],"definition":"Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans.","id":"HP:0003653","name":"Cellular metachromasia","obsolete":false,"parents":["HP:0011020"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level.","id":"HP:0003654","name":"Reduced dihydropyrimidine dehydrogenase level","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Dihydropyrimidine dehydrogenase deficiency"}]} +{"alt_ids":[],"definition":"An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.","id":"HP:0003655","name":"Reduced level of N-acetylglucosaminyltransferase II","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deficient N-acetylglucosaminyltransferase II"}]} +{"alt_ids":[],"definition":"Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose.","id":"HP:0003656","name":"Decreased beta-glucocerebrosidase level","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased lysosomal acid glucosylceramidase activity"}]} +{"alt_ids":["HP:0034379"],"definition":"Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin.","id":"HP:0003657","name":"Vascular granular osmiophilic material deposition","obsolete":false,"parents":["HP:0025015"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Granular osmiophilic deposits (GROD) in cells"}]} +{"alt_ids":[],"definition":"A decreased concentration of methionine in the blood.","id":"HP:0003658","name":"Hypomethioninemia","obsolete":false,"parents":["HP:0010901"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased plasma methionine"},{"scope":"EXACT","text":"Decreased serum methionine"}]} +{"alt_ids":[],"definition":"Muscular atrophy affecting the muscles of the pelvis.","id":"HP:0003665","name":"Amyotrophy of the musculature of the pelvis","obsolete":false,"parents":["HP:0008988"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003588","HP:0003590","HP:0003597","HP:0003602","HP:0003603","HP:0003618","HP:0003626","HP:0003628","HP:0003630","HP:0003663","HP:0003664","HP:0003668","HP:0011007"],"definition":"The age group in which disease manifestations appear.","id":"HP:0003674","name":"Onset","obsolete":false,"parents":["HP:0031797"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Age of onset"},{"scope":"EXACT","text":"Age symptoms begin"}]} +{"alt_ids":[],"definition":"Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age.","id":"HP:0003676","name":"Progressive","obsolete":false,"parents":["HP:0003679"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Progressive disorder"},{"scope":"EXACT","text":"Worsens with time"}]} +{"alt_ids":["HP:0003675","HP:0003681"],"definition":"Applies to a disease manifestation that only slowly increases in scope or severity over the course of time.","id":"HP:0003677","name":"Slowly progressive","obsolete":false,"parents":["HP:0003676"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Signs and symptoms worsen slowly with time"},{"scope":"EXACT","text":"Slow disease progression"},{"scope":"EXACT","text":"Slow progression"},{"scope":"EXACT","text":"Slowly progressive disorder"}]} +{"alt_ids":[],"definition":"Applies to a disease manifestation that quickly increases in scope or severity over the course of time.","id":"HP:0003678","name":"Rapidly progressive","obsolete":false,"parents":["HP:0003676"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rapid progression"},{"scope":"RELATED","text":"Rapidly progressive disorder"},{"scope":"EXACT","text":"Worsening quickly"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003679","name":"Pace of progression","obsolete":false,"parents":["HP:0031797"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003685"],"definition":"Applies to a disease manifestation that does not increase in scope or severity over the course of time, i.e., that does not worsen with age.","id":"HP:0003680","name":"Nonprogressive","obsolete":false,"parents":["HP:0003679"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Does not worsen"},{"scope":"EXACT","text":"Non-progressive"},{"scope":"EXACT","text":"Nonprogressive course"},{"scope":"EXACT","text":"Nonprogressive disorder"},{"scope":"EXACT","text":"Stationary"}]} +{"alt_ids":[],"definition":"Applies to a disease manifestation that quickly increases in scope or severity with a rate that varies. For instance, progression may be slow in one time period and rapid in another.","id":"HP:0003682","name":"Variable progression rate","obsolete":false,"parents":["HP:0003676"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003683","name":"obsolete Large beaked nose","obsolete":true,"parents":[],"replaced_by":["HP:0000444"],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).","id":"HP:0003687","name":"Centrally nucleated skeletal muscle fibers","obsolete":false,"parents":["HP:0004303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Central nuclei"},{"scope":"EXACT","text":"Centralised nuclei"},{"scope":"EXACT","text":"Centralised sarcomeric nuclei"},{"scope":"EXACT","text":"Centralized nuclei"},{"scope":"EXACT","text":"Centralized sarcomeric nuclei"},{"scope":"EXACT","text":"Centrally nucleated skeletal muscle fibres"}]} +{"alt_ids":["HP:0003734","HP:0009006"],"definition":"An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.","id":"HP:0003688","name":"Cytochrome C oxidase-negative muscle fibers","obsolete":false,"parents":["HP:0003800"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cytochrome C oxidase-negative muscle fibres"},{"scope":"EXACT","text":"Cytochrome c oxidase deficiency in skeletal muscle"},{"scope":"EXACT","text":"Decreased activity of cytochrome C oxidase in muscle tissue"},{"scope":"EXACT","text":"Decreased skeletal muscle cytochrome c oxidase activity"}]} +{"alt_ids":["HP:0003801"],"definition":"The presence of multiple deletions of mitochondrial DNA (mtDNA).","id":"HP:0003689","name":"Multiple mitochondrial DNA deletions","obsolete":false,"parents":["HP:0009141"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multiple mtDNA deletions"}]} +{"alt_ids":["HP:0002534"],"definition":"Reduced strength and weakness of the muscles of the arms and legs.","id":"HP:0003690","name":"Limb muscle weakness","obsolete":false,"parents":["HP:0001324","HP:0009127"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Limb muscle weakness"},{"scope":"EXACT","text":"Limb weakness"}]} +{"alt_ids":["HP:0000783"],"definition":"Abnormal protrusion of the scapula away from the surface of the back.","id":"HP:0003691","name":"Scapular winging","obsolete":false,"parents":["HP:0000782","HP:0001435"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Scapula alata"},{"scope":"RELATED","text":"Scapular weakness"},{"scope":"EXACT","text":"Winged scapulae"},{"scope":"EXACT","text":"Winged scapulas"},{"scope":"EXACT","text":"Winged shoulder blade"}]} +{"alt_ids":["HP:0002484","HP:0002934","HP:0003486","HP:0003699","HP:0006786","HP:0006864","HP:0008937","HP:0008958","HP:0009015","HP:0009040","HP:0009065"],"definition":"Muscular atrophy affecting muscles in the distal portions of the extremities.","id":"HP:0003693","name":"Distal amyotrophy","obsolete":false,"parents":["HP:0003202"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Amyotrophy of distal limb muscles"},{"scope":"EXACT","text":"Distal amyotrophy, especially of the hands and feet"},{"scope":"EXACT","text":"Distal limb muscle atrophy"},{"scope":"EXACT","text":"Distal muscle atrophy"},{"scope":"EXACT","text":"Distal muscle atrophy, upper and lower limbs"},{"scope":"EXACT","text":"Distal muscle degeneration"},{"scope":"EXACT","text":"Distal muscle wasting"},{"scope":"EXACT","text":"Distal muscular atrophy"},{"scope":"EXACT","text":"Muscle atrophy, distal"}]} +{"alt_ids":[],"definition":"Lack of strength of the proximal musculature occurring late in the clinical course.","id":"HP:0003694","name":"Late-onset proximal muscle weakness","obsolete":false,"parents":["HP:0003701"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger.","id":"HP:0003696","name":"Absent epiphysis of the distal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009198","HP:0009382","HP:0010246"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of the outermost bone of the little finger"},{"scope":"EXACT","text":"Absent end part of the outermost bone of the pinkie finger"},{"scope":"EXACT","text":"Absent end part of the outermost bone of the pinky finger"}]} +{"alt_ids":["HP:0006920","HP:0008957"],"definition":"Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.","id":"HP:0003697","name":"Scapuloperoneal amyotrophy","obsolete":false,"parents":["HP:0003202"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Scapuloperoneal atrophy"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003698","name":"Difficulty standing","obsolete":false,"parents":["HP:0004302"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Difficulty in standing"},{"scope":"EXACT","text":"Standing instability"}]} +{"alt_ids":["HP:0008977","HP:0008987","HP:0008996","HP:0009043","HP:0009052","HP:0009068","HP:0009074"],"definition":"Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.","id":"HP:0003700","name":"Generalized amyotrophy","obsolete":false,"parents":["HP:0003202"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Diffuse amyotrophy"},{"scope":"EXACT","text":"Diffuse muscle atrophy"},{"scope":"EXACT","text":"Diffuse muscle wasting"},{"scope":"EXACT","text":"Diffuse skeletal muscle wasting"},{"scope":"EXACT","text":"Generalised amyotrophy"},{"scope":"EXACT","text":"Generalised muscle atrophy"},{"scope":"EXACT","text":"Generalised muscle degeneration"},{"scope":"EXACT","text":"Generalized muscle atrophy"},{"scope":"EXACT","text":"Generalized muscle degeneration"},{"scope":"EXACT","text":"Muscle atrophy, diffuse"},{"scope":"EXACT","text":"Muscle atrophy, generalised"},{"scope":"EXACT","text":"Muscle atrophy, generalized"},{"scope":"EXACT","text":"Muscular atrophy, generalised"},{"scope":"EXACT","text":"Muscular atrophy, generalized"}]} +{"alt_ids":["HP:0003432","HP:0003475","HP:0007195","HP:0008950","HP:0008961","HP:0008975","HP:0009033","HP:0009075"],"definition":"A lack of strength of the proximal muscles.","id":"HP:0003701","name":"Proximal muscle weakness","obsolete":false,"parents":["HP:0001324"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle weakness, proximal"},{"scope":"EXACT","text":"Proximal limb muscle weakness"},{"scope":"EXACT","text":"Proximal limb weakness"},{"scope":"RELATED","text":"Proximal neurogenic muscle weakness"},{"scope":"EXACT","text":"Weakness in muscles of upper arms and upper legs"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003704","name":"Scapuloperoneal weakness","obsolete":false,"parents":["HP:0001324"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neurogenic scapuloperoneal syndrome"}]} +{"alt_ids":[],"definition":"Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.","id":"HP:0003707","name":"Calf muscle pseudohypertrophy","obsolete":false,"parents":["HP:0001430"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pseudohypertrophy of the calves"}]} +{"alt_ids":["HP:0008983","HP:0009000"],"definition":"Sudden and involuntary contractions of one or more muscles brought on by physical exertion.","id":"HP:0003710","name":"Exercise-induced muscle cramps","obsolete":false,"parents":["HP:0003394"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Exercise-induced muscle cramping"},{"scope":"EXACT","text":"Exercise-induced muscle cramps"},{"scope":"EXACT","text":"Muscle cramps following exercise"},{"scope":"EXACT","text":"Muscle cramps on exercise"},{"scope":"EXACT","text":"Muscle cramps on exertion"},{"scope":"EXACT","text":"Muscle cramps with exertion"}]} +{"alt_ids":["HP:0009042"],"definition":"Abnormal increase in muscle size and mass not due to training.","id":"HP:0003712","name":"Skeletal muscle hypertrophy","obsolete":false,"parents":["HP:0030236"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypertrophic muscles"},{"scope":"EXACT","text":"Increased skeletal muscle cells"},{"scope":"EXACT","text":"Muscle hypertrophy"},{"scope":"EXACT","text":"Muscular hypertrophy"}]} +{"alt_ids":["HP:0003726"],"definition":"Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers.","id":"HP:0003713","name":"Muscle fiber necrosis","obsolete":false,"parents":["HP:0004303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle fibre necrosis"}]} +{"alt_ids":[],"definition":"Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins.","id":"HP:0003715","name":"Myofibrillar 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muscle hypertrophy","obsolete":false,"parents":["HP:0003712"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised increase in muscle cell size"},{"scope":"EXACT","text":"Generalised muscle hypertrophy"},{"scope":"EXACT","text":"Generalized increase in muscle cell size"}]} +{"alt_ids":["HP:0000469"],"definition":"Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).","id":"HP:0003722","name":"Neck flexor weakness","obsolete":false,"parents":["HP:0000467"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neck flexion weakness"},{"scope":"EXACT","text":"Neck flexor muscle weakness"}]} +{"alt_ids":[],"definition":"Amyotrophy affecting the muscles of the shoulder girdle.","id":"HP:0003724","name":"Shoulder girdle muscle atrophy","obsolete":false,"parents":["HP:0003797"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Shoulder girdle atrophy"},{"scope":"EXACT","text":"Shoulder girdle muscle wasting"},{"scope":"EXACT","text":"Shoulder-girdle muscle atrophy"}]} +{"alt_ids":[],"definition":"A state of increased firmness (i.e., a reduced tendency to yield to pressure) of skeletal muscle tissue. This finding is ascertained by palpation and is to be distinguished from increased muscle tone (abnormal elevation in the resting tension of a muscle, leading to stiffness and resistance to movement).","id":"HP:0003725","name":"Firm muscles","obsolete":false,"parents":["HP:0011805"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003729","name":"Enteroviral dermatomyositis syndrome","obsolete":false,"parents":["HP:0002743"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG).","id":"HP:0003730","name":"EMG: myotonic runs","obsolete":false,"parents":["HP:0002486","HP:0003457"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"EMG: spontaneous, repetitive electrical activity"}]} +{"alt_ids":[],"definition":"Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).","id":"HP:0003731","name":"Quadriceps muscle weakness","obsolete":false,"parents":["HP:0008994"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Quadriceps weakness"}]} +{"alt_ids":[],"definition":"Muscle hypertrophy affecting the thighs.","id":"HP:0003733","name":"Thigh hypertrophy","obsolete":false,"parents":["HP:0008968"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased thigh size"}]} +{"alt_ids":[],"definition":"The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue.","id":"HP:0003736","name":"Autophagic vacuoles","obsolete":false,"parents":["HP:0004303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008960"],"definition":"A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers.","id":"HP:0003737","name":"Mitochondrial myopathy","obsolete":false,"parents":["HP:0003800"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The occurrence of an unusually high amount of muscle pain following exercise.","id":"HP:0003738","name":"Exercise-induced myalgia","obsolete":false,"parents":["HP:0003326"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Exercise-induced muscle pain"},{"scope":"EXACT","text":"Muscle pain on exercise"},{"scope":"EXACT","text":"Muscle pain with exercise"},{"scope":"EXACT","text":"Muscle pain, exercise-induced"}]} +{"alt_ids":["HP:0006963"],"definition":null,"id":"HP:0003739","name":"Myoclonic spasms","obsolete":false,"parents":["HP:0001336"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Myotonia that occurs after a period of rest and decreases with continuing exercise.","id":"HP:0003740","name":"Myotonia with warm-up phenomenon","obsolete":false,"parents":["HP:0002486"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003741","name":"obsolete Congenital muscular dystrophy","obsolete":true,"parents":[],"replaced_by":["HP:0003560"],"synonyms":[]} +{"alt_ids":[],"definition":"A type of autosomal dominant inheritance involving a gene that exhibits anticipation, the increase in severity and/or an earlier age of onset in subsequent generations.","id":"HP:0003743","name":"Genetic anticipation","obsolete":false,"parents":["HP:0034335"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Autosomal dominant with genetic anticipation"}]} +{"alt_ids":[],"definition":"A type of genetic anticipation observed predominantly upon transmission from affected males.","id":"HP:0003744","name":"Genetic anticipation with paternal anticipation bias","obsolete":false,"parents":["HP:0003743"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Paternal anticipation bias"}]} +{"alt_ids":["HP:0001420","HP:0003747","HP:0003769"],"definition":"Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.","id":"HP:0003745","name":"Sporadic","obsolete":false,"parents":["HP:0000005"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Isolated cases"},{"scope":"EXACT","text":"No previous family history"}]} +{"alt_ids":["HP:0003692","HP:0008999","HP:0009036"],"definition":"Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.","id":"HP:0003749","name":"Pelvic girdle muscle weakness","obsolete":false,"parents":["HP:0003325"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hip girdle muscle weakness"},{"scope":"EXACT","text":"Hip girdle weakness"},{"scope":"EXACT","text":"Hip-girdle muscle weakness"},{"scope":"EXACT","text":"Pelvic girdle weakness"}]} +{"alt_ids":[],"definition":"An abnormal, increased fatiguability of the musculature.","id":"HP:0003750","name":"Increased muscle fatiguability","obsolete":false,"parents":["HP:0011804"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Muscle fatigue"}]} +{"alt_ids":[],"definition":"Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching.","id":"HP:0003752","name":"Episodic flaccid weakness","obsolete":false,"parents":["HP:0010547"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers.","id":"HP:0003755","name":"Type 1 fibers relatively smaller than type 2 fibers","obsolete":false,"parents":["HP:0012084"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Type 1 fibres relatively smaller than type 2 fibres"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003756","name":"Skeletal myopathy","obsolete":false,"parents":["HP:0003198"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001002","HP:0007409"],"definition":"A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.","id":"HP:0003758","name":"Reduced subcutaneous adipose tissue","obsolete":false,"parents":["HP:0001001","HP:0040063"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased subcutaneous adipose tissue"},{"scope":"EXACT","text":"Decreased subcutaneous fat"},{"scope":"EXACT","text":"Reduced fat tissue below the skin"},{"scope":"EXACT","text":"Reduced subcutaneous fat"},{"scope":"EXACT","text":"Scanty adipose tissue"}]} +{"alt_ids":[],"definition":"Congenital underdevelopment of lymph vessels.","id":"HP:0003759","name":"Hypoplasia of lymphatic vessels","obsolete":false,"parents":["HP:0100766"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Underdeveloped lymphatic vessels"}]} +{"alt_ids":[],"definition":"Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle.","id":"HP:0003760","name":"Percussion-induced rapid rolling muscle contractions","obsolete":false,"parents":["HP:0010548"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Formation of calcium deposits in any soft tissue.","id":"HP:0003761","name":"Calcinosis","obsolete":false,"parents":["HP:0011805"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Calcium buildup in soft tissues of body"}]} +{"alt_ids":[],"definition":"A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis.","id":"HP:0003762","name":"Uterus didelphys","obsolete":false,"parents":["HP:0031105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Didelphic uteri"},{"scope":"EXACT","text":"Didelphic uterus"},{"scope":"EXACT","text":"Didelphyc uterus"},{"scope":"RELATED","text":"Double uterus"},{"scope":"EXACT","text":"Doubling of uterus"},{"scope":"EXACT","text":"Duplex uterus"},{"scope":"EXACT","text":"Duplicated uterus"},{"scope":"EXACT","text":"Duplication of uterus"},{"scope":"EXACT","text":"Uterine didelphis"},{"scope":"EXACT","text":"Uterine didelphys"},{"scope":"EXACT","text":"Uterus didelphis"},{"scope":"EXACT","text":"Uterus didelphus"},{"scope":"EXACT","text":"Uterus duplex"}]} +{"alt_ids":["HP:5200284"],"definition":"Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep.","id":"HP:0003763","name":"Bruxism","obsolete":false,"parents":["HP:5200017","HP:5200300"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Grinding teeth during sleep"},{"scope":"EXACT","text":"Teeth grinding"}]} +{"alt_ids":[],"definition":"A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.","id":"HP:0003764","name":"Nevus","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mole"},{"scope":"RELATED","text":"Naevi"},{"scope":"EXACT","text":"Naevus"},{"scope":"RELATED","text":"Nevi"}]} +{"alt_ids":[],"definition":"A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).","id":"HP:0003765","name":"Psoriasiform dermatitis","obsolete":false,"parents":["HP:0011123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Psoriasis"}]} +{"alt_ids":[],"definition":"Episodes of muscle weakness.","id":"HP:0003768","name":"Periodic paralysis","obsolete":false,"parents":["HP:0003470"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Episodic paralysis"}]} +{"alt_ids":[],"definition":"Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies.","id":"HP:0003771","name":"Pulp calcification","obsolete":false,"parents":["HP:0006479"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"False denticles"},{"scope":"NARROW","text":"False pulp stones"},{"scope":"EXACT","text":"Pulp calcifications"},{"scope":"EXACT","text":"Pulp denticles"},{"scope":"EXACT","text":"Pulp stones"},{"scope":"EXACT","text":"Pulpoliths"},{"scope":"NARROW","text":"True denticles"},{"scope":"NARROW","text":"True pulp stones"}]} +{"alt_ids":["HP:0000101","HP:0004720","HP:0004725","HP:0004733","HP:0004738","HP:0005570"],"definition":"A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.","id":"HP:0003774","name":"Stage 5 chronic kidney disease","obsolete":false,"parents":["HP:0012622"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic renal failure"},{"scope":"EXACT","text":"End stage renal disease"},{"scope":"EXACT","text":"End stage renal failure"},{"scope":"EXACT","text":"End-stage renal disease"},{"scope":"EXACT","text":"End-stage renal failure"},{"scope":"RELATED","text":"Renal failure, endstage"},{"scope":"EXACT","text":"Stage 5 chronic kidney disease"}]} +{"alt_ids":[],"definition":"Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.","id":"HP:0003777","name":"Pili torti","obsolete":false,"parents":["HP:0003328"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flattened and twisted hair"}]} +{"alt_ids":["HP:0005447"],"definition":null,"id":"HP:0003778","name":"Short mandibular rami","obsolete":false,"parents":["HP:0000347","HP:3000003"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Decreased height of mandibular ramus"},{"scope":"BROAD","text":"Decreased size of mandibular ramus"},{"scope":"EXACT","text":"Short body and ramus of mandible"},{"scope":"EXACT","text":"Short mandibular ramus"},{"scope":"EXACT","text":"Underdeveloped mandibular rami"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003779","name":"Antegonial notching of mandible","obsolete":false,"parents":["HP:0010753"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deep antegonial notch of mandible"},{"scope":"EXACT","text":"Large antegonial notch of mandible"}]} +{"alt_ids":[],"definition":"Excessive production of saliva.","id":"HP:0003781","name":"Excessive salivation","obsolete":false,"parents":["HP:0100755"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excessive production of saliva"},{"scope":"EXACT","text":"Excessive salivation"},{"scope":"EXACT","text":"Hypersalivation"},{"scope":"EXACT","text":"Mouth watering"},{"scope":"EXACT","text":"Oversalivation"},{"scope":"EXACT","text":"Ptyalism"},{"scope":"EXACT","text":"Watery mouth"}]} +{"alt_ids":[],"definition":"A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).","id":"HP:0003782","name":"Eunuchoid habitus","obsolete":false,"parents":["HP:0004325"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003783","name":"obsolete Externally rotated/abducted legs","obsolete":true,"parents":[],"replaced_by":["HP:0008796"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003784","name":"Type 1 collagen overmodification","obsolete":false,"parents":["HP:0011862"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.","id":"HP:0003785","name":"Decreased CSF homovanillic acid concentration","obsolete":false,"parents":["HP:0034200"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers.","id":"HP:0003787","name":"Type 1 and type 2 muscle fiber minicore regions","obsolete":false,"parents":["HP:0003789"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Type 1 and type 2 muscle fibre minicore regions"}]} +{"alt_ids":["HP:0003804"],"definition":"Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers.","id":"HP:0003789","name":"Minicore myopathy","obsolete":false,"parents":["HP:0003198"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003791","name":"Deposits immunoreactive to beta-amyloid protein","obsolete":false,"parents":["HP:0004303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Developmental hypoplasia (shortening) of middle phalanx of toe.","id":"HP:0003795","name":"Short middle phalanx of toe","obsolete":false,"parents":["HP:0001831","HP:0010183"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short middle bones (feet)"},{"scope":"EXACT","text":"Short middle phalanges of toes"}]} +{"alt_ids":[],"definition":"Irregularity of the iliac crest, which is the superior border of the wing of the ilium.","id":"HP:0003796","name":"Irregular iliac crest","obsolete":false,"parents":["HP:0002867"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Muscular atrophy affecting the muscles of the limb girdle.","id":"HP:0003797","name":"Limb-girdle muscle atrophy","obsolete":false,"parents":["HP:0003202","HP:0009127"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Limb-girdle myopathy"},{"scope":"EXACT","text":"Wasting of limb-girdle muscle"}]} +{"alt_ids":[],"definition":"Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces.","id":"HP:0003798","name":"Nemaline bodies","obsolete":false,"parents":["HP:0100303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nemaline rods"}]} +{"alt_ids":["HP:0005742","HP:0005843"],"definition":null,"id":"HP:0003799","name":"Marked delay in bone age","obsolete":false,"parents":["HP:0002750"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Marked delay in bone age"},{"scope":"EXACT","text":"Marked retardation in skeletal maturation"},{"scope":"EXACT","text":"Markedly retarded bone age"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003800","name":"Muscle abnormality related to mitochondrial dysfunction","obsolete":false,"parents":["HP:0011804"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003721","HP:0003807"],"definition":"An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).","id":"HP:0003803","name":"Type 1 muscle fiber predominance","obsolete":false,"parents":["HP:0033684"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Type 1 muscle fibre predominance"},{"scope":"EXACT","text":"Type I muscle fiber predominance"},{"scope":"EXACT","text":"Type I muscle fibre predominance"}]} +{"alt_ids":["HP:0009029"],"definition":"Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.","id":"HP:0003805","name":"Rimmed vacuoles","obsolete":false,"parents":["HP:0004303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rimmed vacuoles on biopsy"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003808","name":"Abnormal muscle tone","obsolete":false,"parents":["HP:0011804"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal muscle tone"}]} +{"alt_ids":[],"definition":"An abnormally reduced amount of adipose tissue in the thoracic cavity.","id":"HP:0003809","name":"Reduced intrathoracic adipose tissue","obsolete":false,"parents":["HP:0040063"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003728"],"definition":null,"id":"HP:0003810","name":"Late-onset distal muscle weakness","obsolete":false,"parents":["HP:0002460"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003820","HP:0003824"],"definition":"Death within the first 28 days of life.","id":"HP:0003811","name":"Neonatal death","obsolete":false,"parents":["HP:0011420"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neonatal lethal"}]} +{"alt_ids":["HP:0003813","HP:0003815","HP:0003821","HP:0003822"],"definition":"A variability of phenotypic features.","id":"HP:0003812","name":"Phenotypic variability","obsolete":false,"parents":["HP:0012823"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Clinical heterogeneity"},{"scope":"EXACT","text":"Highly variable clinical phenotype"},{"scope":"EXACT","text":"Highly variable phenotype"},{"scope":"EXACT","text":"Highly variable phenotype and severity"},{"scope":"EXACT","text":"Highly variable phenotype, even within families"},{"scope":"EXACT","text":"Variable phenotype"},{"scope":"EXACT","text":"Variable phenotypic severity"}]} +{"alt_ids":["HP:0001432","HP:0004149"],"definition":"Death in during childhood, defined here as between the ages of 2 and 10 years.","id":"HP:0003819","name":"Death in childhood","obsolete":false,"parents":["HP:0011420"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Death in childhood"}]} +{"alt_ids":["HP:0001624","HP:0001625"],"definition":"Death of the fetus in utero after at least 22 weeks of gestation.","id":"HP:0003826","name":"Stillbirth","obsolete":false,"parents":["HP:0034241"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Fetal death"},{"scope":"RELATED","text":"Fetal demise"},{"scope":"RELATED","text":"Foetal death"},{"scope":"RELATED","text":"Foetal demise"},{"scope":"EXACT","text":"Late fetal death"},{"scope":"EXACT","text":"Late foetal death"},{"scope":"EXACT","text":"Stillbirth"},{"scope":"EXACT","text":"Stillborn"}]} +{"alt_ids":["HP:0003814","HP:0003825"],"definition":"A variable severity of phenotypic features.","id":"HP:0003828","name":"Variable expressivity","obsolete":false,"parents":["HP:0003812"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Highly variable severity"},{"scope":"EXACT","text":"Variable severity"}]} +{"alt_ids":["HP:0003830"],"definition":"Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years.","id":"HP:0003829","name":"Typified by incomplete penetrance","obsolete":false,"parents":["HP:0034335"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Incomplete penetrance"},{"scope":"EXACT","text":"Reduced penetrance"}]} +{"alt_ids":[],"definition":"Description of conditions in which age of onset is typically later in life and in which penetrance is dependent on the age of the subject.","id":"HP:0003831","name":"Typified by age-related disease onset","obsolete":false,"parents":["HP:0034335"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Age dependent penetrance"},{"scope":"EXACT","text":"Age-dependent penetrance"},{"scope":"EXACT","text":"Typified by age-related penetrance"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003832","name":"Abnormality of the tibial plateaux","obsolete":false,"parents":["HP:0002992"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003833","name":"Laterally deficient tibial plateaux","obsolete":false,"parents":["HP:0003832"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation.","id":"HP:0003834","name":"Shoulder dislocation","obsolete":false,"parents":["HP:0003043","HP:0030310"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Shoulder dislocation"}]} +{"alt_ids":[],"definition":"A partial dislocation of the shoulder joint.","id":"HP:0003835","name":"Shoulder subluxation","obsolete":false,"parents":["HP:0032153"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial shoulder dislocation"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003836","name":"Stippled calcification of the shoulder","obsolete":false,"parents":["HP:0003043"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Formation of calcified tissue in the soft tissues surrounding the shoulder.","id":"HP:0003837","name":"Soft-tissue ossification around the shoulders","obsolete":false,"parents":["HP:0011986"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Calcification of the soft-tissue around the shoulders"}]} +{"alt_ids":["HP:0003845"],"definition":null,"id":"HP:0003839","name":"Abnormal upper limb epiphysis morphology","obsolete":false,"parents":["HP:0002817","HP:0006505"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of end part of upper limb long bones"},{"scope":"EXACT","text":"Abnormality involving the epiphyses of the upper limbs"},{"scope":"EXACT","text":"Abnormality of upper limb epiphysis morphology"},{"scope":"EXACT","text":"Epihyseal plate abnormality of the upper limbs"}]} +{"alt_ids":[],"definition":"A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs.","id":"HP:0003840","name":"Delayed upper limb epiphyseal ossification","obsolete":false,"parents":["HP:0002663","HP:0003839"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Delayed maturation of the end part of the upper limb bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003841","name":"Fragmented upper limb 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+{"alt_ids":[],"definition":null,"id":"HP:0003846","name":"Wide epiphyseal plates of the upper limbs","obsolete":false,"parents":["HP:0003839"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad epiphyseal plates of the upper limbs"},{"scope":"EXACT","text":"Broad growth plates of upper limbs"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003848","name":"Cupped metaphyses of the upper limbs","obsolete":false,"parents":["HP:0003021","HP:0009809"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cupped wide portion of the upper limb bone"}]} +{"alt_ids":[],"definition":"The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm.","id":"HP:0003849","name":"Flared upper limb metaphysis","obsolete":false,"parents":["HP:0003015","HP:0003856"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flared metaphyses of the upper limbs"},{"scope":"EXACT","text":"Flared wide portion of the upper limb bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003850","name":"Upper-limb metaphyseal irregularity","obsolete":false,"parents":["HP:0003025","HP:0009809"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular metaphyses of the upper limbs"},{"scope":"EXACT","text":"Irregular wide portion of upper limb bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003851","name":"Lytic defects in metaphyses of the upper limbs","obsolete":false,"parents":["HP:0009809"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003852","name":"Normal density transverse bands in metaphyses of the upper limbs","obsolete":false,"parents":["HP:0009809"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003853","name":"Sclerosis with transverse striations in metaphyses of the upper limbs","obsolete":false,"parents":["HP:0003854"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003854","name":"Sclerosis of metaphyses of the upper 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+{"alt_ids":[],"definition":null,"id":"HP:0003859","name":"Cortical diaphyseal thickening of the upper limbs","obsolete":false,"parents":["HP:0009808"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:0003860","name":"Diaphyseal sclerosis of the upper limbs","obsolete":false,"parents":["HP:0003034","HP:0009808"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in central part of long bone of upper limbs"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003861","name":"Broad diaphyses of the upper limbs","obsolete":false,"parents":["HP:0009808"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad shaft of long bone of the upper limbs"},{"scope":"EXACT","text":"Wide diaphyses of the upper limbs"},{"scope":"EXACT","text":"Wide shaft of long bone of the upper limbs"}]} +{"alt_ids":[],"definition":"Missing humerus bone associated with congenital failure of development.","id":"HP:0003862","name":"Absent humerus","obsolete":false,"parents":["HP:0006507"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent long bone in upper arm"},{"scope":"EXACT","text":"Aplasia of the humerus"},{"scope":"EXACT","text":"Aplastic humerus"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003863","name":"Angulated humerus","obsolete":false,"parents":["HP:0031095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Angulated long bone in upper arm"}]} +{"alt_ids":[],"definition":"Clefting affecting the humerus.","id":"HP:0003864","name":"Bifid humerus","obsolete":false,"parents":["HP:0031095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Notched long bone in upper arm"}]} +{"alt_ids":[],"definition":"A bending or abnormal curvature of the humerus.","id":"HP:0003865","name":"Bowed humerus","obsolete":false,"parents":["HP:0006488","HP:0031095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bowed long bone in upper arm"},{"scope":"EXACT","text":"Bowing of the humerus"},{"scope":"EXACT","text":"Humeral bowing"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003866","name":"Coarse humeral trabeculae","obsolete":false,"parents":["HP:0031095"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003867","name":"Humeral cortical irregularity","obsolete":false,"parents":["HP:0005731","HP:0010629"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003868","name":"Humeral cortical thickening","obsolete":false,"parents":["HP:0000935","HP:0010629"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003869","name":"Humeral cortical thinning","obsolete":false,"parents":["HP:0002753","HP:0010629"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003873"],"definition":null,"id":"HP:0003870","name":"Crumpled humerus","obsolete":false,"parents":["HP:0031095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Crumpled long bone in upper arm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003871","name":"Deformed humerus","obsolete":false,"parents":["HP:0031095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deformed long bone in upper arm"}]} +{"alt_ids":[],"definition":"Presence of more than one exostosis originating in one or both humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.","id":"HP:0003872","name":"Humeral exostoses","obsolete":false,"parents":["HP:0002762","HP:0031095"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003874","name":"Humerus varus","obsolete":false,"parents":["HP:0031095"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Destruction of an area of humerus bone due to a disease process, such as cancer.","id":"HP:0003875","name":"Humeral lytic defects","obsolete":false,"parents":["HP:0031095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lytic defects of the humerus"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003876","name":"Osteoporotic humerus","obsolete":false,"parents":["HP:0031095"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003877","name":"Oval transradiancy of humerus","obsolete":false,"parents":["HP:0031095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Humeral oval transradiancy"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003878","name":"Periosteal new bone of humerus","obsolete":false,"parents":["HP:0030314","HP:0031095"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003879","name":"Humeral pseudarthrosis","obsolete":false,"parents":["HP:0031095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"False joint (long bone in upper arm)"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003880","name":"Sclerotic foci of the humerus","obsolete":false,"parents":["HP:0003881"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Humeral sclerotic foci"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003881","name":"Humeral sclerosis","obsolete":false,"parents":["HP:0006392","HP:0031095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in long bone of upper arm"},{"scope":"EXACT","text":"Sclerosis of humerus"}]} +{"alt_ids":[],"definition":"Reduction in diameter of the humerus.","id":"HP:0003882","name":"Slender humerus","obsolete":false,"parents":["HP:0003100","HP:0031095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Slender long bone of upper arm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003883","name":"Tapered humerus","obsolete":false,"parents":["HP:0031095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tapered long bone of upper arm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003884","name":"Triangular humerus","obsolete":false,"parents":["HP:0031095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular long bone of upper arm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003885","name":"Undermodeled humerus","obsolete":false,"parents":["HP:0031095"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003886","name":"Wide humerus","obsolete":false,"parents":["HP:0005622","HP:0031095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad humerus"},{"scope":"EXACT","text":"Wide long bone of upper arm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003887","name":"Abnormal humeral head morphology","obsolete":false,"parents":["HP:0031095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal head of long bone in upper arm"},{"scope":"EXACT","text":"Abnormality of the humeral heads"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003888","name":"Flattened humeral heads","obsolete":false,"parents":["HP:0003887"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flattended head of long bone in upper arm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003889","name":"Abnormal deltoid tuberosity morphology","obsolete":false,"parents":["HP:0003926"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the deltoid tuberosities"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003890","name":"Prominent deltoid tuberosities","obsolete":false,"parents":["HP:0003889"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the humeral epiphysis.","id":"HP:0003891","name":"Abnormal humeral epiphysis morphology","obsolete":false,"parents":["HP:0003839","HP:0031095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of end part of the long bone of the upper arm"},{"scope":"EXACT","text":"Abnormality of the humeral epiphyses"},{"scope":"EXACT","text":"Abnormality of the humeral epiphysis"}]} +{"alt_ids":[],"definition":"Lack of formation of bone in the epiphysis of the humerus.","id":"HP:0003892","name":"Absent humeral epiphyseal ossification","obsolete":false,"parents":["HP:0003891","HP:0012791"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent maturation of end part of long bone in upper arm"},{"scope":"EXACT","text":"Absent ossification of the humeral epiphyses"}]} +{"alt_ids":[],"definition":"Ossification of the humeral epiphysis at an earlier age than normal.","id":"HP:0003893","name":"Advanced ossification of the humeral 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+{"alt_ids":[],"definition":null,"id":"HP:0003896","name":"Irregular humeral epiphyses","obsolete":false,"parents":["HP:0003842","HP:0003891"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of long bone in upper arm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003897","name":"Irregular ossification of the humeral epiphyses","obsolete":false,"parents":["HP:0003891","HP:0010656","HP:0012791"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Irregular maturation of the end part of the long bone in upper arm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003898","name":"Large humeral epiphyses","obsolete":false,"parents":["HP:0003891","HP:0010580"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Large end part of long bone in upper arm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003899","name":"Round humeral epiphyses","obsolete":false,"parents":["HP:0003843","HP:0003891"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Round end part of long bone in upper arm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003900","name":"Small humeral epiphyses","obsolete":false,"parents":["HP:0003844","HP:0003891"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of long bone in upper arm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003901","name":"Stippled calcification of the humeral epiphyses","obsolete":false,"parents":["HP:0003891"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis.","id":"HP:0003902","name":"Epiphyseal stippling of the humerus","obsolete":false,"parents":["HP:0003897","HP:0010655"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Stippled ossification of the humeral epiphyses"}]} +{"alt_ids":[],"definition":"Increased width of the humeral epiphysis.","id":"HP:0003903","name":"Broad humeral epiphyses","obsolete":false,"parents":["HP:0003891","HP:0003904"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide end part of long bone in upper arm"},{"scope":"EXACT","text":"Wide humeral epiphyses"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003904","name":"Wide epiphyses of the upper limbs","obsolete":false,"parents":["HP:0003839","HP:0010580"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad epiphyses of the upper limbs"},{"scope":"EXACT","text":"Wide end part of upper limb bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003905","name":"Abnormality of the humeral epiphyseal plate","obsolete":false,"parents":["HP:0003891"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Abnormality of arm long bone growth plate"}]} +{"alt_ids":[],"definition":"Increased width of the humeral epiphyseal growth plate.","id":"HP:0003906","name":"Broad humeral epiphyseal plate","obsolete":false,"parents":["HP:0003846","HP:0003905"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide humeral epiphyseal plate"},{"scope":"BROAD","text":"Wide long bone of arm growth plate"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003907","name":"Abnormal humeral metaphysis morphology","obsolete":false,"parents":["HP:0009809","HP:0031095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the humeral metaphyses"},{"scope":"EXACT","text":"Abnormality of the wide portion of the long bone in upper arm"}]} +{"alt_ids":[],"definition":"Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias.","id":"HP:0003908","name":"Corner fracture of metaphysis","obsolete":false,"parents":["HP:0000944"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bucket handle fracture"},{"scope":"EXACT","text":"Metaphyseal corner fracture"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003909","name":"Cortical subperiosteal resorption of humeral metaphyses","obsolete":false,"parents":["HP:0003907"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003910","name":"Enlarged humeral metaphyses","obsolete":false,"parents":["HP:0003051","HP:0003907"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged wide portion of long bone of upper arm"},{"scope":"EXACT","text":"Expanded humeral metaphyses"}]} +{"alt_ids":["HP:0003925"],"definition":"Flaring (increase of width with a splayed 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metaphyses","obsolete":false,"parents":["HP:0003907","HP:0012791"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular bone maturation of the wide portion of the long bone in upper arm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003915","name":"Lytic defects of the humeral metaphysis","obsolete":false,"parents":["HP:0003851","HP:0003907"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003916","name":"Normal-density transverse humeral bands","obsolete":false,"parents":["HP:0003852","HP:0003907"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003917","name":"Pointed humeral metaphysis","obsolete":false,"parents":["HP:0003907"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pointed wide portion of long bone of upper arm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003918","name":"Sclerotic humeral 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metaphysis","obsolete":false,"parents":["HP:0003907"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spurred metaphysis of long bone of upper arm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003923","name":"Square humeral metaphysis","obsolete":false,"parents":["HP:0003907"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Square metaphysis of long bone of upper arm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003924","name":"Stippled calcification of humeral metaphysis","obsolete":false,"parents":["HP:0003907"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcification in metaphysis of long bone of upper arm"}]} +{"alt_ids":[],"definition":"An anomaly of the humeral diaphysis.","id":"HP:0003926","name":"Abnormal humeral diaphysis morphology","obsolete":false,"parents":["HP:0009808","HP:0031095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of shaft of long bone in upper arm"},{"scope":"EXACT","text":"Abnormality of the humeral diaphysis"}]} +{"alt_ids":[],"definition":"An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus.","id":"HP:0003927","name":"Cortical irregularity of humeral diaphysis","obsolete":false,"parents":["HP:0003858","HP:0003867","HP:0003926"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003928","name":"Cortical thickening of humeral diaphysis","obsolete":false,"parents":["HP:0003859","HP:0003926"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003929","name":"Ground glass opacity of humeral diaphysis","obsolete":false,"parents":["HP:0003926"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003930","name":"Lytic defects of humeral diaphysis","obsolete":false,"parents":["HP:0003926"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Humeral diaphyseal lysis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003931","name":"Periosteal new bone of humeral diaphysis","obsolete":false,"parents":["HP:0003926","HP:0030314"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003932","name":"Sclerotic foci of humeral diaphysis","obsolete":false,"parents":["HP:0003926"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003933","name":"Sclerosis of humeral diaphysis","obsolete":false,"parents":["HP:0003860","HP:0003926"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in shaft of long bone in upper arm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003934","name":"Slender humeral diaphysis","obsolete":false,"parents":["HP:0003926"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Slender shaft of long bone in upper arm"}]} +{"alt_ids":[],"definition":"Increased width of the humeral diaphysis.","id":"HP:0003935","name":"Wide humeral diaphysis","obsolete":false,"parents":["HP:0003861","HP:0003926"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad humeral diaphysis"},{"scope":"EXACT","text":"Broad shaft of long bone in upper arm"},{"scope":"EXACT","text":"Wide shaft of long bone in upper arm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003938","name":"Synostosis involving the elbow","obsolete":false,"parents":["HP:0020300","HP:0100238"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bone fusion involving the elbow"}]} +{"alt_ids":[],"definition":"An abnormal osseous union (fusion) between the ulna and the humerus.","id":"HP:0003939","name":"Humeroulnar synostosis","obsolete":false,"parents":["HP:0003938","HP:0100745"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Humeral ulnar synostosis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003940","name":"Osteoarthritis of the elbow","obsolete":false,"parents":["HP:0002758","HP:0020300"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003941","name":"Stippled calcification of the elbow","obsolete":false,"parents":["HP:0020300"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003942","name":"Synovial chondromatosis of the elbow","obsolete":false,"parents":["HP:0020300"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003943","name":"Abnormality of the joint spaces of the elbow","obsolete":false,"parents":["HP:0020300"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the joint spaces of the elbow"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003944","name":"Narrow joint spaces of the elbow","obsolete":false,"parents":["HP:0003943"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrow joint spaces of the elbow"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003945","name":"Irregular articular surfaces of the elbow joints","obsolete":false,"parents":["HP:0020300"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003946","name":"Abnormal elbow epiphysis 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morphology","obsolete":false,"parents":["HP:0009809","HP:0020300"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal wide portion of elbow bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003950","name":"Flared elbow metaphyses","obsolete":false,"parents":["HP:0003849","HP:0003949"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flared wide portion of elbow bone"}]} +{"alt_ids":[],"definition":"Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow).","id":"HP:0003951","name":"Distal humeral metaphyseal irregularity","obsolete":false,"parents":["HP:0003913","HP:0003949"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular metaphyses of elbow"},{"scope":"EXACT","text":"Irregular wide portion of elbow bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003952","name":"Sclerotic foci of metaphyses of the 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radiography.","id":"HP:0003955","name":"Bone-in-a-bone appearance of forearm","obsolete":false,"parents":["HP:0002973"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bone-in-a-bone appearance of forearm"}]} +{"alt_ids":[],"definition":"A bending or abnormal curvature affecting either the radius, the ulna, or both.","id":"HP:0003956","name":"Bowed forearm bones","obsolete":false,"parents":["HP:0006488","HP:0040072"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bowed forearm bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003957","name":"Cortical thickening of the forearm bones","obsolete":false,"parents":["HP:0040072"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003958","name":"Cross-fusion of the forearm bones","obsolete":false,"parents":["HP:0040072"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003959","name":"Deformed forearm bones","obsolete":false,"parents":["HP:0040072"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deformed forearm bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003960","name":"Exostoses of the forearm bones","obsolete":false,"parents":["HP:0040072","HP:0100777"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bone fracture in the radius, ulna, or wrist.","id":"HP:0003961","name":"Fractured forearm bone","obsolete":false,"parents":["HP:0020110","HP:0040072"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broken forearm"},{"scope":"EXACT","text":"Fracture of the forearm"},{"scope":"EXACT","text":"Fractured forearm bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003963","name":"Lytic defects of the forearm bones","obsolete":false,"parents":["HP:0040072"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003964","name":"Osteoporotic forearm bones","obsolete":false,"parents":["HP:0040072"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003965","name":"Pseudarthrosis of the forearm bones","obsolete":false,"parents":["HP:0040072"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003966","name":"Sclerotic foci in forearm bones","obsolete":false,"parents":["HP:0040072"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003967","name":"Sclerotic forearm bones","obsolete":false,"parents":["HP:0040072"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of forearm bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003969","name":"Slender forearm bones","obsolete":false,"parents":["HP:0040072"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003970","name":"Undermodelled forearm bones","obsolete":false,"parents":["HP:0040072"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally wide bone of the skeleton of forearm.","id":"HP:0003971","name":"Broad forearm bones","obsolete":false,"parents":["HP:0040072"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad forearm bones"},{"scope":"EXACT","text":"Wide forearm bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003973","name":"Wide radioulnar joints","obsolete":false,"parents":["HP:0003037","HP:0003059"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad radioulnar joints"}]} +{"alt_ids":["HP:0002819","HP:0005012"],"definition":"Missing radius bone associated with congenital failure of development.","id":"HP:0003974","name":"Absent radius","obsolete":false,"parents":["HP:0003953","HP:0006501"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent ossification/absence of radius"},{"scope":"EXACT","text":"Aplasia of the radius"},{"scope":"EXACT","text":"Missing outer large bone of forearm"},{"scope":"EXACT","text":"Radial aplasia"},{"scope":"EXACT","text":"absence of radius and ulna"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003975","name":"obsolete Chevron-shaped/cone-shaped radius","obsolete":true,"parents":[],"replaced_by":["HP:0004000"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003976","name":"Constricted radius","obsolete":false,"parents":["HP:0002818","HP:0003330"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005046"],"definition":null,"id":"HP:0003977","name":"Deformed radius","obsolete":false,"parents":["HP:0002818","HP:0003959"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003978","name":"Fractured radius","obsolete":false,"parents":["HP:0002818","HP:0003961","HP:0025736"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003979","name":"Lytic defects of the radius","obsolete":false,"parents":["HP:0002818","HP:0003963"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003980","name":"Pseudarthrosis of the radius","obsolete":false,"parents":["HP:0002818","HP:0003965"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased width of the radius.","id":"HP:0003981","name":"Broad radius","obsolete":false,"parents":["HP:0002818","HP:0003971","HP:0005622"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide radius"}]} +{"alt_ids":[],"definition":"Missing ulna bone associated with congenital failure of development.","id":"HP:0003982","name":"Aplasia of the ulna","obsolete":false,"parents":["HP:0003953","HP:0006495"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent ossification/absent ulna"},{"scope":"EXACT","text":"Absent ulna"},{"scope":"RELATED","text":"Absent ulnae"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003984","name":"Posteriorly dislocated ulna","obsolete":false,"parents":["HP:0040071"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003985","name":"Exostoses of the ulna","obsolete":false,"parents":["HP:0003960","HP:0040071"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003986","name":"Exostoses of the radius","obsolete":false,"parents":["HP:0002818","HP:0003960"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003987","name":"Fractured ulna","obsolete":false,"parents":["HP:0003961","HP:0025736","HP:0040071"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006435"],"definition":"Increased length of the ulna.","id":"HP:0003988","name":"Long ulna","obsolete":false,"parents":["HP:0040071"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disproportionately long ulnae"}]} +{"alt_ids":[],"definition":null,"id":"HP:0003989","name":"Notched ulna","obsolete":false,"parents":["HP:0040071"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0003990","name":"Pointed ulna","obsolete":false,"parents":["HP:0040071"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Osteosclerosis (increased density related to increased bone mass) of the ulna.","id":"HP:0003991","name":"Osteosclerosis of the ulna","obsolete":false,"parents":["HP:0003967","HP:0006392","HP:0040071"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sclerotic ulna"}]} +{"alt_ids":[],"definition":"Reduction in diameter of the ulna.","id":"HP:0003992","name":"Slender ulna","obsolete":false,"parents":["HP:0003100","HP:0003969","HP:0040071"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0200081"],"definition":"Increased width of the ulna.","id":"HP:0003993","name":"Broad ulna","obsolete":false,"parents":["HP:0003971","HP:0005622","HP:0040071"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Wide ulna"}]} +{"alt_ids":["HP:0004992"],"definition":"An injury of the wrist with displacement of any of the eight carpal bones.","id":"HP:0003994","name":"Dislocated wrist","obsolete":false,"parents":["HP:0025799","HP:0030310"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dislocated wrist"},{"scope":"EXACT","text":"Dislocations of the wrists"}]} 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plates"},{"scope":"EXACT","text":"Abnormality of radial epiphyses"}]} +{"alt_ids":["HP:0003975"],"definition":"The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance.","id":"HP:0004000","name":"Cone-shaped distal radial epiphysis","obsolete":false,"parents":["HP:0003999","HP:0010579"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chevron-shaped distal radial epiphysis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004001","name":"Medially deficient radial epiphyses","obsolete":false,"parents":["HP:0003999"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004002","name":"Flattened radial epiphyses","obsolete":false,"parents":["HP:0003071","HP:0003999"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004003","name":"Medially flattened radial epiphyses","obsolete":false,"parents":["HP:0004002"],"replaced_by":[],"synonyms":[]} 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Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone.","id":"HP:0004012","name":"Premature fusion of the radial epiphyseal plates","obsolete":false,"parents":["HP:0003999"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004013","name":"Medially fused radial epiphyseal plates","obsolete":false,"parents":["HP:0004012"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase in width of the epiphyseal growth plate of the radius.","id":"HP:0004014","name":"Broad radial epiphyseal plate","obsolete":false,"parents":["HP:0003999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide radial epiphyseal plates"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004015","name":"Abnormal radial metaphysis morphology","obsolete":false,"parents":["HP:0002818","HP:0009809"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of radial metaphyses"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004016","name":"Cupped radial metaphyses","obsolete":false,"parents":["HP:0003848","HP:0004015"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004017","name":"Exostoses of the radial metaphysis","obsolete":false,"parents":["HP:0003986","HP:0004015"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a splayed (i.e.,flared) metaphyseal segment of the radius.","id":"HP:0004018","name":"Flared radial metaphysis","obsolete":false,"parents":["HP:0003849","HP:0004015"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Broadening of the distal radius"}]} +{"alt_ids":[],"definition":"Irregularity of the normally smooth surface of the metaphysis of the radius.","id":"HP:0004019","name":"Radial metaphyseal irregularity","obsolete":false,"parents":["HP:0003850","HP:0004015"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular radial metaphysis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004020","name":"Irregular ossification of the radial metaphysis","obsolete":false,"parents":["HP:0003336","HP:0004015"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004021","name":"Lytic defects of radial metaphysis","obsolete":false,"parents":["HP:0003851","HP:0004015"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004022","name":"Sclerotic radial metaphysis with longitudinal striations","obsolete":false,"parents":["HP:0003854","HP:0004015"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004023","name":"Sloping radial metaphysis","obsolete":false,"parents":["HP:0004015"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004024","name":"Medially sloping radial metaphysis","obsolete":false,"parents":["HP:0004023"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004025","name":"Spurred radial metaphysis","obsolete":false,"parents":["HP:0004015"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increase in width (breadth) of the radial metaphysis.","id":"HP:0004026","name":"Broad radial metaphysis","obsolete":false,"parents":["HP:0003856","HP:0003981","HP:0004015"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide radial metaphysis"}]} +{"alt_ids":[],"definition":"An anomaly of the radial diaphysis.","id":"HP:0004027","name":"Abnormality of radial diaphysis","obsolete":false,"parents":["HP:0002818","HP:0009808"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004028","name":"Spurs of radial diaphysis","obsolete":false,"parents":["HP:0004027"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004029","name":"Lytic defects of radial diaphysis","obsolete":false,"parents":["HP:0004027"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004030","name":"Patchy sclerosis of radial diaphysis","obsolete":false,"parents":["HP:0004027"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increase in width of the diaphysis of radius.","id":"HP:0004031","name":"Broad radial diaphysis","obsolete":false,"parents":["HP:0004027"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide radial diaphysis"}]} +{"alt_ids":[],"definition":"Any structural abnormality of the olecranon, a bony eminence of the proximal ulna.","id":"HP:0004032","name":"Abnormal olecranon morphology","obsolete":false,"parents":["HP:0040071"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the olecranon"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004033","name":"Curved olecranon","obsolete":false,"parents":["HP:0004032"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004034","name":"Irregular olecranon","obsolete":false,"parents":["HP:0004032"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004035","name":"Abnormal ulnar styloid process morphology","obsolete":false,"parents":["HP:0004037"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the styloid process of ulna"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004036","name":"Long styloid process of ulna","obsolete":false,"parents":["HP:0004035"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004037","name":"Abnormal ulnar epiphysis morphology","obsolete":false,"parents":["HP:0003839","HP:0040071"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the epiphyseal plate of the ulna"},{"scope":"EXACT","text":"Abnormality of the ulnar epiphyses"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004038","name":"obsolete Bony spicule of ulnar epiphyseal plate","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural abnormality of the portion of the ulna between the epiphysis and the diaphysis.","id":"HP:0004039","name":"Abnormal ulnar metaphysis morphology","obsolete":false,"parents":["HP:0009809","HP:0040071"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of ulnar metaphysis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004040","name":"Corner fragments of ulnar metaphysis","obsolete":false,"parents":["HP:0004039"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004041","name":"Cupped ulnar metaphysis","obsolete":false,"parents":["HP:0004039"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Irregularity of the normally smooth surface of the metaphysis of the ulna.","id":"HP:0004042","name":"Ulnar metaphyseal irregularity","obsolete":false,"parents":["HP:0003850","HP:0004039"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular ulnar metaphysis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004043","name":"Lytic defects of ulnar metaphysis","obsolete":false,"parents":["HP:0004039","HP:0045039"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004044","name":"Pointed ulnar metaphysis","obsolete":false,"parents":["HP:0004039"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A sloped configuration of the metaphysis (shaft) of the ulna.","id":"HP:0004045","name":"Sloping ulnar metaphysis","obsolete":false,"parents":["HP:0004039"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004046","name":"Spurred ulnar metaphysis","obsolete":false,"parents":["HP:0003855","HP:0004039"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increase in width (breadth) of the ulnar metaphysis.","id":"HP:0004047","name":"Wide ulnar metaphysis","obsolete":false,"parents":["HP:0003856","HP:0004039"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad ulnar metaphysis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004048","name":"Narrow joint spaces of wrist","obsolete":false,"parents":["HP:0025798"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004049","name":"Decreased carpal angles of wrist","obsolete":false,"parents":["HP:0025798"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The total absence of the hand, with no bony elements distal to the radius or ulna.","id":"HP:0004050","name":"Absent hand","obsolete":false,"parents":["HP:0005927","HP:6000918"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent hand"},{"scope":"EXACT","text":"Acheiria"}]} +{"alt_ids":[],"definition":"Ossification of hand bones at an earlier age than normal.","id":"HP:0004051","name":"Advanced ossification of the hand bones","obsolete":false,"parents":["HP:0010660"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Accelerated maturation of hand bones"},{"scope":"RELATED","text":"Advanced maturation of the hand bones"}]} +{"alt_ids":[],"definition":"Ossification of hand bones is less advanced than would be expected according to age-adjusted norms.","id":"HP:0004052","name":"Delayed ossification of the hand bones","obsolete":false,"parents":["HP:0010660"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delay maturation/delayed ossification of the hand"},{"scope":"RELATED","text":"Delayed maturation of the hand bones"}]} +{"alt_ids":["HP:0006204"],"definition":"Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand.","id":"HP:0004053","name":"Dysharmonic maturation of the hand bones","obsolete":false,"parents":["HP:0010660","HP:0200000"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disharmonic maturation of the hand bones"},{"scope":"EXACT","text":"Dysharmonic ossification of the hand bones"}]} +{"alt_ids":["HP:0004055"],"definition":"Osteosclerosis affecting one or more bones of the hand.","id":"HP:0004054","name":"Sclerosis of hand bone","obsolete":false,"parents":["HP:0011001"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised sclerosis of hand bones"},{"scope":"EXACT","text":"Generalized sclerosis of hand bones"},{"scope":"EXACT","text":"Hand bone sclerosis"},{"scope":"EXACT","text":"Increased bone density in hand bone"},{"scope":"EXACT","text":"Increased bone density in hand bones"}]} +{"alt_ids":[],"definition":"Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a \"mitten\" hand deformity.","id":"HP:0004057","name":"Mitten deformity","obsolete":false,"parents":["HP:0005922"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pseudosyndactyly"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004058","name":"Hand monodactyly","obsolete":false,"parents":["HP:0009380"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004059","name":"obsolete radial ray deficiency","obsolete":true,"parents":[],"replaced_by":["HP:0006433"],"synonyms":[]} +{"alt_ids":[],"definition":"A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits.","id":"HP:0004060","name":"Trident hand","obsolete":false,"parents":["HP:0001167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"trident abnormality"},{"scope":"EXACT","text":"trident deformity"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004066","name":"obsolete Laterally deviated thumb phalanges","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004083","name":"obsolete Laterally deviated terminal thumb phalanx","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004090","name":"obsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004095","name":"Curved fingers","obsolete":false,"parents":["HP:0001167","HP:0005922"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved fingers"}]} +{"alt_ids":["HP:0006229"],"definition":"Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges.","id":"HP:0004097","name":"Deviation of finger","obsolete":false,"parents":["HP:0001167","HP:0009484"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atypical position of finger"},{"scope":"EXACT","text":"Deviated fingers"},{"scope":"EXACT","text":"Finger pointing in a different direction than usual"}]} +{"alt_ids":[],"definition":"Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit.","id":"HP:0004099","name":"Macrodactyly","obsolete":false,"parents":["HP:0011297"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Finger overgrowth"},{"scope":"EXACT","text":"Megalodactyly"}]} +{"alt_ids":[],"definition":"An anomaly of the second finger, also known as the index finger.","id":"HP:0004100","name":"Abnormal 2nd finger morphology","obsolete":false,"parents":["HP:0001167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of index finger"},{"scope":"EXACT","text":"Abnormality of the 2nd finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004110","name":"obsolete Radially deviated index finger phalanges","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal groove on the midline of the nose that may extend to the nasal tip.","id":"HP:0004112","name":"Midline nasal groove","obsolete":false,"parents":["HP:0004122"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Central nasal groove"},{"scope":"EXACT","text":"Midline nasal groove"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004121","name":"obsolete Radially displaced proximal index finger phalanx","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003190"],"definition":"This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip.","id":"HP:0004122","name":"Midline defect of the nose","obsolete":false,"parents":["HP:0005105"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Central cleft of nose"},{"scope":"EXACT","text":"Central defect of nose"},{"scope":"EXACT","text":"Central nasal defect"},{"scope":"RELATED","text":"Midline cleft of nose"},{"scope":"EXACT","text":"Midline defect of the nose"},{"scope":"EXACT","text":"Midline nasal defect"}]} +{"alt_ids":[],"definition":"An abnormal indentation of the skin in the region of the nasal tip.","id":"HP:0004132","name":"Dimple on nasal tip","obsolete":false,"parents":["HP:0000436"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dimple on nasal tip"},{"scope":"EXACT","text":"Dimpled tip of nose"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004138","name":"obsolete Metaphyseal abnormality of middle phalanx of the 2nd finger","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004139","name":"obsolete Flared metaphysis of middle phalanx of index finger","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004143","name":"obsolete Radially deviated terminal index finger phalanx","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004144","name":"obsolete Duplication of terminal index finger phalanx","obsolete":true,"parents":[],"replaced_by":["HP:0009948"],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the third finger.","id":"HP:0004150","name":"Abnormal 3rd finger morphology","obsolete":false,"parents":["HP:0001167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the 3rd finger"},{"scope":"EXACT","text":"Abnormality of the middle finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004153","name":"obsolete Overgrowth of middle finger","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004157","name":"obsolete Accessory middle-finger phalanges","obsolete":true,"parents":[],"replaced_by":["HP:0009963"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004161","name":"obsolete Periosteal new bone of middle finger phalanges","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004162","name":"obsolete Radially pointed middle finger phalanges","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004168","name":"obsolete Radially pointed proximal middle-finger phalanx","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004172","name":"Abnormality of the middle phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009316"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal middle finger bone of the middle finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004174","name":"obsolete Accessory middle phalanx of middle finger","obsolete":true,"parents":[],"replaced_by":["HP:0009963"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004175","name":"obsolete Periosteal new bone of middle phalanx of middle-finger","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004182"],"definition":"Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger.","id":"HP:0004180","name":"Short distal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009421","HP:0009461","HP:0009882"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic/small distal phalanx of the 3rd finger"},{"scope":"EXACT","text":"Short distal phalanx of the third finger"},{"scope":"EXACT","text":"Short outermost bone of the middle finger"},{"scope":"EXACT","text":"Short terminal phalanx of middle finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004183","name":"obsolete Abnormality of the epiphyses of the terminal phalanx of the middle finger","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004184","name":"obsolete Cone-shaped epiphysis of terminal phalanx of the middle finger","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004185","name":"obsolete Fused epiphysis of terminal phalanx of the middle finger","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004186","name":"obsolete Large epiphysis of terminal phalanx of the middle finger","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004187","name":"obsolete Prematurely fused epiphysis of terminal phalanx of the middle finger","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004188","name":"Abnormal 4th finger morphology","obsolete":false,"parents":["HP:0001167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the 4th finger"},{"scope":"EXACT","text":"Abnormality of the ring finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004192","name":"obsolete Bracket epiphyses of the 4th finger","obsolete":true,"parents":[],"replaced_by":["HP:0009394"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004193","name":"obsolete Expanded phalanges of the ring finger","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004194","name":"obsolete Hypoplastic phalanges of the ring finger","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Osteolytic defects of the phalanges of the 4th (ring) finger.","id":"HP:0004195","name":"Osteolytic defects of the phalanges of the 4th finger","obsolete":false,"parents":["HP:0009172","HP:0009771"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Lytic defects of the phalanges of the ring finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004196","name":"obsolete Short phalanges of the ring finger","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0009308"],"definition":"Congenital bony fusion of two adjacent phalanges of the fourth finger.","id":"HP:0004197","name":"Fourth finger symphalangism","obsolete":false,"parents":["HP:0009172","HP:0009700"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused ring finger bones"},{"scope":"EXACT","text":"Symphalangism of the ring finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004198","name":"obsolete Wide/broad phalanges of the ring finger","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004201","name":"obsolete Expanded proximal phalanx of the ring finger","obsolete":true,"parents":[],"replaced_by":["HP:0009310"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004202","name":"obsolete Lytic defects of the proximal phalanx of the ring finger","obsolete":true,"parents":[],"replaced_by":["HP:0009312"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004203","name":"obsolete Short proximal phalanx of the ring finger","obsolete":true,"parents":[],"replaced_by":["HP:0009300"],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality affecting one or both 5th fingers.","id":"HP:0004207","name":"Abnormal 5th finger morphology","obsolete":false,"parents":["HP:0001167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the 5th finger"},{"scope":"EXACT","text":"Abnormality of the little finger"},{"scope":"EXACT","text":"Abnormality of the pinkie finger"},{"scope":"EXACT","text":"Abnormality of the pinky finger"}]} +{"alt_ids":["HP:0001158","HP:0001588","HP:0004212","HP:0006083","HP:0006181","HP:0009181"],"definition":"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).","id":"HP:0004209","name":"Clinodactyly of the 5th finger","obsolete":false,"parents":["HP:0009179","HP:0040019"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bilateral fifth digit clinodactyly"},{"scope":"EXACT","text":"Bilateral fifth finger clinodactyly"},{"scope":"EXACT","text":"Clinodactyly of fifth digit"},{"scope":"EXACT","text":"Clinodactyly of the little finger"},{"scope":"BROAD","text":"Curvature of little finger"},{"scope":"BROAD","text":"Curvature of pinkie finger"},{"scope":"BROAD","text":"Curvature of pinky finger"},{"scope":"EXACT","text":"Fifth finger clinodactyly"},{"scope":"EXACT","text":"Permanent curving of the pinkie finger"}]} +{"alt_ids":[],"definition":"Abnormality of the phalanges of the 5th (little) finger.","id":"HP:0004213","name":"Abnormal 5th finger phalanx morphology","obsolete":false,"parents":["HP:0004207","HP:0005918"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the little finger bone"},{"scope":"EXACT","text":"Abnormality of the phalanges of the 5th finger"},{"scope":"EXACT","text":"Abnormality of the pinkie finger bone"},{"scope":"EXACT","text":"Abnormality of the pinky finger bone"}]} +{"alt_ids":[],"definition":"Curved phalanges of the 5th (little) finger.","id":"HP:0004214","name":"Curved phalanges of the 5th finger","obsolete":false,"parents":["HP:0004095","HP:0004213","HP:0009770"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved little finger bone"},{"scope":"EXACT","text":"Curved pinkie finger bone"},{"scope":"EXACT","text":"Curved pinky finger bone"}]} +{"alt_ids":[],"definition":"Dissolution or degeneration of bone tissue of the phalanges of the 5th finger.","id":"HP:0004216","name":"Osteolytic defects of the phalanges of the 5th finger","obsolete":false,"parents":["HP:0004213","HP:0009771"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lytic defects of the phalanges of the little finger"}]} +{"alt_ids":["HP:0009178"],"definition":"Congenital bony fusion of two adjacent phalanges of the fifth finger.","id":"HP:0004218","name":"Fifth finger symphalangism","obsolete":false,"parents":["HP:0004213","HP:0009700"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused little finger bones"},{"scope":"EXACT","text":"Fused pinkie finger bones"},{"scope":"EXACT","text":"Fused pinky finger bones"},{"scope":"EXACT","text":"Symphalagism of the little finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004219","name":"Abnormality of the middle phalanx of the 5th finger","obsolete":false,"parents":["HP:0004213"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the middle bone of little finger"},{"scope":"EXACT","text":"Abnormality of the middle bone of pinkie finger"},{"scope":"EXACT","text":"Abnormality of the middle bone of pinky finger"}]} +{"alt_ids":["HP:0001243","HP:0003069","HP:0004221","HP:0005649","HP:0005706","HP:0005734","HP:0005813"],"definition":"Hypoplastic/small middle phalanx of the fifth finger.","id":"HP:0004220","name":"Short middle phalanx of the 5th finger","obsolete":false,"parents":["HP:0005819","HP:0009161","HP:0009237","HP:0009370"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"5th finger middle phalangeal hypoplasia"},{"scope":"EXACT","text":"Brachymesophalangism V"},{"scope":"EXACT","text":"Brachymesophalangy V (finger)"},{"scope":"EXACT","text":"Fifth finger mid-phalanx hypoplasia"},{"scope":"EXACT","text":"Hypoplastic fifth finger middle phalanx"},{"scope":"EXACT","text":"Hypoplastic middle phalanx of the 5th finger"},{"scope":"EXACT","text":"Hypoplastic/small middle phalanx of the 5th finger"},{"scope":"EXACT","text":"Hypoplastic/small middle phalanx of the little finger"},{"scope":"EXACT","text":"Short middle bone of the little finger"},{"scope":"EXACT","text":"Short middle bone of the pinkie finger"},{"scope":"EXACT","text":"Short middle bone of the pinky finger"},{"scope":"EXACT","text":"Short middle phalanx of the little finger"},{"scope":"EXACT","text":"Type A3 brachydactyly"}]} +{"alt_ids":[],"definition":"A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.","id":"HP:0004222","name":"Cone-shaped epiphysis of the distal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009198","HP:0009384","HP:0010248"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of the outermost little finger bone"},{"scope":"EXACT","text":"Cone-shaped end part of the outermost pinkie finger bone"},{"scope":"EXACT","text":"Cone-shaped end part of the outermost pinky finger bone"},{"scope":"EXACT","text":"Cone-shaped epiphysis of the distal phalanx of the little finger"}]} +{"alt_ids":["HP:0004229"],"definition":"Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.","id":"HP:0004223","name":"Ivory epiphysis of the distal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009198","HP:0009388","HP:0010252"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the outermost little finger bone"},{"scope":"EXACT","text":"Increased bone density of end part of the outermost pinkie finger bone"},{"scope":"EXACT","text":"Increased bone density of end part of the outermost pinky finger bone"},{"scope":"EXACT","text":"Ivory epiphysis of the distal phalanx of the little finger"},{"scope":"EXACT","text":"Ivory epiphysis of the terminal phalanx of the little finger"}]} +{"alt_ids":[],"definition":"Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.","id":"HP:0004224","name":"Abnormality of the epiphysis of the middle phalanx of the 5th finger","obsolete":false,"parents":["HP:0004219","HP:0009152","HP:0010244"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of middle little finger bone"},{"scope":"EXACT","text":"Abnormality of the end part of middle pinkie finger bone"},{"scope":"EXACT","text":"Abnormality of the end part of middle pinky finger bone"}]} +{"alt_ids":[],"definition":"Abnormality of the distal phalanx of the 5th (little) finger.","id":"HP:0004225","name":"Abnormality of the distal phalanx of the 5th finger","obsolete":false,"parents":["HP:0004213"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the distal phalanx of the little finger"},{"scope":"EXACT","text":"Abnormality of the outermost little finger bone"},{"scope":"EXACT","text":"Abnormality of the outermost pinkie finger bone"},{"scope":"EXACT","text":"Abnormality of the outermost pinky finger bone"},{"scope":"EXACT","text":"Abnormality of the terminal phalanx of the little finger"}]} +{"alt_ids":[],"definition":"Curved appearance of the distal phalanx of the 5th (little) finger.","id":"HP:0004226","name":"Curved distal phalanx of the 5th finger","obsolete":false,"parents":["HP:0004214","HP:0004225","HP:0009838"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved outermost little finger bone"},{"scope":"EXACT","text":"Curved outermost pinkie finger bone"},{"scope":"EXACT","text":"Curved outermost pinky finger bone"},{"scope":"EXACT","text":"Curved terminal phalanx of the little finger"}]} +{"alt_ids":["HP:0006171"],"definition":"Hypoplastic/small distal phalanx of the fifth finger.","id":"HP:0004227","name":"Short distal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009237","HP:0009239","HP:0009882"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brachytelophalangism V"},{"scope":"EXACT","text":"Fifth digit distal phalangeal hypoplasia"},{"scope":"EXACT","text":"Hypoplastic/small terminal phalanx of the little finger"},{"scope":"EXACT","text":"Short distal phalanx of the fifth finger"},{"scope":"EXACT","text":"Short outermost little finger bone"},{"scope":"EXACT","text":"Short outermost pinkie finger bone"},{"scope":"EXACT","text":"Short outermost pinky finger bone"}]} +{"alt_ids":[],"definition":"A partial dislocation of the proximal interphalangeal joint of the little finger.","id":"HP:0004230","name":"Subluxation of the proximal interphalangeal joint of the little finger","obsolete":false,"parents":["HP:0004207","HP:0032153"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partially dislocated innermost hinge joint of little finger"},{"scope":"EXACT","text":"Partially dislocated innermost hinge joint of pinkie finger"},{"scope":"EXACT","text":"Partially dislocated innermost hinge joint of pinky finger"}]} +{"alt_ids":["HP:0005056","HP:0006020","HP:0006084"],"definition":"Congenital absence of a carpal bone.","id":"HP:0004231","name":"Carpal bone aplasia","obsolete":false,"parents":["HP:0006502"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent carpal bone"},{"scope":"EXACT","text":"Absent carpal bones"},{"scope":"EXACT","text":"Absent carpal ossification center"},{"scope":"EXACT","text":"Absent carpal ossification centre"},{"scope":"BROAD","text":"Absent wrist bone"},{"scope":"EXACT","text":"Aplastic carpal bone"},{"scope":"BROAD","text":"Missing wrist bone"}]} +{"alt_ids":[],"definition":"The presence of more than the normal number of carpal bones.","id":"HP:0004232","name":"Accessory carpal bones","obsolete":false,"parents":["HP:0001191","HP:0004275"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Extra wrist bones"},{"scope":"EXACT","text":"Supernumerary carpal bones"}]} +{"alt_ids":["HP:0006104"],"definition":"Ossification of carpal bones at an abnormally early age.","id":"HP:0004233","name":"Advanced ossification of carpal bones","obsolete":false,"parents":["HP:0006257"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Accelerated carpal bone maturation"},{"scope":"BROAD","text":"Accelerated wrist bone maturation"},{"scope":"EXACT","text":"Advanced carpal bone age"},{"scope":"EXACT","text":"Advanced carpal ossification"},{"scope":"EXACT","text":"Precociously ossified carpal bones"}]} +{"alt_ids":[],"definition":"The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones.","id":"HP:0004234","name":"Bone-in-a-bone appearance of carpal bones","obsolete":false,"parents":["HP:0009164","HP:0011001"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Bone-in-a-bone appearance of wrist bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004235","name":"Comma-shaped carpal bones","obsolete":false,"parents":["HP:0006014"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Comma-shaped wrist bones"}]} +{"alt_ids":[],"definition":"Carpal bones with irregular or fragmented margins.","id":"HP:0004236","name":"Irregular carpal bones","obsolete":false,"parents":["HP:0006014"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Irregular wrist bones"}]} +{"alt_ids":[],"definition":"Increased size of carpal bones.","id":"HP:0004237","name":"Large carpal bones","obsolete":false,"parents":["HP:0006014"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Large carpals"},{"scope":"BROAD","text":"Large wrist bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004238","name":"Lytic defects of carpal bones","obsolete":false,"parents":["HP:0001495"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004239","name":"Proximally placed carpal bones","obsolete":false,"parents":["HP:0001191"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004240","name":"Sclerotic foci within carpal bones","obsolete":false,"parents":["HP:0004054","HP:0009164"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Hardened spots within wrist bones"},{"scope":"BROAD","text":"Stiffened spots within wrist bones"}]} +{"alt_ids":["HP:0006177"],"definition":"Point-shaped (punctate) calcifications affecting the carpal bones.","id":"HP:0004241","name":"Stippled calcification in carpal bones","obsolete":false,"parents":["HP:0004054","HP:0009164"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Punctate calcifications of carpals"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004242","name":"Broad carpal bones","obsolete":false,"parents":["HP:0004237"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide carpal bones"},{"scope":"BROAD","text":"Wide wrist bones"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the scaphoid. The scaphoid is the largest bone of the proximal row of carpal bones. It is located on the same side as the thumb.","id":"HP:0004243","name":"Abnormal scaphoid morphology","obsolete":false,"parents":["HP:0001191"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the scaphoid"}]} +{"alt_ids":[],"definition":"Variations in the development of carpal bones are uncommon, with the scaphoid bone typically forming from the fusion of the os centrale carpi and the radial chondrification center during embryogenesis. A bipartite scaphoid is a rare congenital disorder that occurs when these ossification centers fail to fuse.","id":"HP:0004244","name":"Accessory scaphoid","obsolete":false,"parents":["HP:0004232","HP:0004243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bipartite scaphoid"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004245","name":"Comma-shaped scaphoid","obsolete":false,"parents":["HP:0004235","HP:0004243"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Formation of bone tissue of scaphoid is less than expected for age.","id":"HP:0004246","name":"Delayed ossification of the scaphoid","obsolete":false,"parents":["HP:0001216","HP:0045003"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delayed maturation of the scaphoid"}]} +{"alt_ids":[],"definition":"Underdevelopment of the scaphoid.","id":"HP:0004247","name":"Small scaphoid","obsolete":false,"parents":["HP:0001498","HP:0004243"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the lunate bone, which is located in the proximal row of carpal bones.","id":"HP:0004248","name":"Abnormal lunate bone morphology","obsolete":false,"parents":["HP:0001191"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004249","name":"Accessory lunate","obsolete":false,"parents":["HP:0004232","HP:0004248"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004250","name":"Proximally placed lunate","obsolete":false,"parents":["HP:0004239","HP:0004248"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Osseous fusion of the lunate and triquetrum.","id":"HP:0004251","name":"Lunate-triquetral fusion","obsolete":false,"parents":["HP:0004248"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lunotriquetral synostosis"}]} +{"alt_ids":[],"definition":"An anomaly of the trapezium, which is the carpal bone located at the base of the thumb.","id":"HP:0004252","name":"Abnormal trapezium morphology","obsolete":false,"parents":["HP:0001191"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004253","name":"Absent trapezium","obsolete":false,"parents":["HP:0004252","HP:0006257"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent trapezium bone"}]} +{"alt_ids":[],"definition":"Formation of bone tissue of trapezium is less than expected for age.","id":"HP:0004254","name":"Delayed ossification of the trapezium","obsolete":false,"parents":["HP:0001216","HP:0045001"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delayed maturation of the trapezium"}]} +{"alt_ids":[],"definition":"Underdevelopment of the trapezium.","id":"HP:0004255","name":"Small trapezium","obsolete":false,"parents":["HP:0001498","HP:0004252"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the trapezoid bone, which is the smallest bone in the distal row of carpal bones.","id":"HP:0004256","name":"Abnormal trapezoid bone morphology","obsolete":false,"parents":["HP:0001191"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the trapezoid bone"}]} +{"alt_ids":[],"definition":"Formation of bone tissue of trapezoid is less than expected for age.","id":"HP:0004257","name":"Delayed ossification of the trapezoid bone","obsolete":false,"parents":["HP:0001216","HP:0045004"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delayed maturation of the trapezoid bone"}]} +{"alt_ids":[],"definition":"Underdevelopment of the trapezoid.","id":"HP:0004258","name":"Small trapezoid bone","obsolete":false,"parents":["HP:0001498","HP:0004256"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the hamate bone, which is the ulnar-most bone located within the distal row of carpal bones, neighboured by the capitate bone radially.","id":"HP:0004259","name":"Abnormal hamate bone morphology","obsolete":false,"parents":["HP:0001191"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the hamate bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004260","name":"Large hamate bone","obsolete":false,"parents":["HP:0004237","HP:0004259"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Large unciform bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004261","name":"Wide hamate bone","obsolete":false,"parents":["HP:0004242","HP:0004260"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad hamate bone"},{"scope":"EXACT","text":"Wide unciform bone"}]} +{"alt_ids":[],"definition":"A structural anomaly of the capitate bone, which is the largest of the carpal bones in the human hand.","id":"HP:0004262","name":"Abnormal capitate bone morphology","obsolete":false,"parents":["HP:0001191"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the capitate bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004263","name":"Large capitate bone","obsolete":false,"parents":["HP:0004237","HP:0004262"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004265"],"definition":null,"id":"HP:0004264","name":"Narrow carpal joint spaces","obsolete":false,"parents":["HP:0001191"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased carpal joint angles"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004267","name":"Narrow small joints of the hand","obsolete":false,"parents":["HP:0006261"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrow small joints of the hand"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004268","name":"Osteoarthritis of the small joints of the hand","obsolete":false,"parents":["HP:0002758","HP:0006261"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A partial dislocation of some or all of the small joints of the hand.","id":"HP:0004269","name":"Subluxation of the small joints of the hand","obsolete":false,"parents":["HP:0006261","HP:0032153"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial dislocation of small joints of hand"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004271","name":"Cortical thickening of hand bones","obsolete":false,"parents":["HP:0005926","HP:0100039"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004272","name":"Cortical thinning of hand bones","obsolete":false,"parents":["HP:0002753","HP:0005926"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004273","name":"Cupped metaphyses of hand bones","obsolete":false,"parents":["HP:0005923"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cupped metaphysis of hand bones"},{"scope":"EXACT","text":"Cupped wide portion of hand bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004274","name":"Deficient ossification of hand bones","obsolete":false,"parents":["HP:0010660"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Deficient maturation of hand bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004275","name":"Duplication of hand bones","obsolete":false,"parents":["HP:0005922","HP:0009142"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplication of hand bones"}]} +{"alt_ids":[],"definition":"Abnormal formation of new bone on the surface of a bone of the hand.","id":"HP:0004276","name":"Exostoses of hand bones","obsolete":false,"parents":["HP:0005922","HP:0100777"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0041232"],"definition":null,"id":"HP:0004277","name":"Fractured hand bones","obsolete":false,"parents":["HP:0005922","HP:0020110"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broken hand bones"},{"scope":"EXACT","text":"Fractured hand bones"}]} +{"alt_ids":[],"definition":"An abnormal union between bones or parts of bones of the hand.","id":"HP:0004278","name":"Synostosis involving bones of the hand","obsolete":false,"parents":["HP:0005922","HP:0100238"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Fused hand bones"}]} +{"alt_ids":["HP:0001165"],"definition":"Short palm.","id":"HP:0004279","name":"Short palm","obsolete":false,"parents":["HP:0005927","HP:0100871"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Hypoplastic hands"},{"scope":"RELATED","text":"Short hands"},{"scope":"EXACT","text":"Short palm"},{"scope":"RELATED","text":"Short palms"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004280","name":"Irregular ossification of hand bones","obsolete":false,"parents":["HP:0010660"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Irregular maturation of hand bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004281","name":"Irregular sclerosis of hand bones","obsolete":false,"parents":["HP:0004054"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length.","id":"HP:0004283","name":"Narrow palm","obsolete":false,"parents":["HP:0100871"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrow hand"},{"scope":"RELATED","text":"Narrow hands"},{"scope":"EXACT","text":"Narrow palm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004284","name":"Notched hand bones","obsolete":false,"parents":["HP:0005922"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Notched hand bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004285","name":"Overmodelled hand bones","obsolete":false,"parents":["HP:0005922"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004286","name":"Patchy sclerosis of hand bones","obsolete":false,"parents":["HP:0004281"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uneven increase in bone density in hand bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004287","name":"Pointed hand bones","obsolete":false,"parents":["HP:0005922"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pointed hand bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004288","name":"Pseudoepiphyses of hand bones","obsolete":false,"parents":["HP:0005924","HP:0010584"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004289","name":"Sclerotic foci in hand bones","obsolete":false,"parents":["HP:0004281"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004290","name":"Sclerosis of hand bones with transverse striations","obsolete":false,"parents":["HP:0004281"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004291","name":"Stippled calcification of hand bones","obsolete":false,"parents":["HP:0004280"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004292","name":"Undermodelled hand bones","obsolete":false,"parents":["HP:0005922"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fusion of the second metacarpal-trapezoid.","id":"HP:0004293","name":"Synostosis of second metacarpal-trapezoid","obsolete":false,"parents":["HP:0009705","HP:0100328"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fusion of second metacarpal-trapezoid"}]} +{"alt_ids":[],"definition":"A partial dislocation affecting some or all of the metacarpophalangeal joints.","id":"HP:0004294","name":"Subluxation of metacarpal phalangeal joints","obsolete":false,"parents":["HP:0011911","HP:0032153"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial knuckle dislocation"},{"scope":"EXACT","text":"Subluxation of metacarpophalangeal joints"}]} +{"alt_ids":[],"definition":"An abnormality of the gastric mucous membrane.","id":"HP:0004295","name":"Abnormal gastric mucosa morphology","obsolete":false,"parents":["HP:0002577"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the gastric mucosa"},{"scope":"EXACT","text":"Abnormality of the mucous membrane layer of stomach"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004296","name":"Abnormal gastrointestinal vascular morphology","obsolete":false,"parents":["HP:0012718","HP:0025015"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of GI blood vessels"},{"scope":"EXACT","text":"Abnormality of GI vasculature"},{"scope":"EXACT","text":"Abnormality of gastrointestinal vasculature"}]} +{"alt_ids":[],"definition":"An abnormality of the biliary system.","id":"HP:0004297","name":"Abnormality of the biliary system","obsolete":false,"parents":["HP:0001392"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001462"],"definition":"The presence of any abnormality affecting the abdominal wall.","id":"HP:0004298","name":"Abnormal abdominal wall morphology","obsolete":false,"parents":["HP:0025031"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of external features of the abdomen"},{"scope":"EXACT","text":"Abnormality of the abdominal wall"}]} +{"alt_ids":[],"definition":"The presence of a hernia in the abdominal wall.","id":"HP:0004299","name":"Hernia of the abdominal wall","obsolete":false,"parents":["HP:0010866","HP:0100790"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Herniated abdominal wall"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004302","name":"Functional motor deficit","obsolete":false,"parents":["HP:0011804"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Functional motor problems"}]} +{"alt_ids":["HP:0003706","HP:0011806"],"definition":"Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.","id":"HP:0004303","name":"Abnormal muscle fiber morphology","obsolete":false,"parents":["HP:0011805"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal muscle fibre morphology"},{"scope":"EXACT","text":"Abnormal skeletal muscle fiber morphology"},{"scope":"EXACT","text":"Abnormal skeletal muscle fibre morphology"},{"scope":"EXACT","text":"Abnormality of muscle fibers"},{"scope":"EXACT","text":"Abnormality of muscle fibres"}]} +{"alt_ids":["HP:0007120"],"definition":"Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.","id":"HP:0004305","name":"Involuntary movements","obsolete":false,"parents":["HP:0011442","HP:0100022"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Involuntary movements"},{"scope":"EXACT","text":"Involuntary muscle contractions"}]} +{"alt_ids":["HP:0005260"],"definition":"An abnormality of the endocardium.","id":"HP:0004306","name":"Abnormal endocardium morphology","obsolete":false,"parents":["HP:0001627"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the endocardium"},{"scope":"EXACT","text":"Abnormality of the endomycoardium"}]} +{"alt_ids":[],"definition":"Developmental defect characterized by an anomalous anatomic location of the heart.","id":"HP:0004307","name":"Abnormal anatomic location of the heart","obsolete":false,"parents":["HP:0001627"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004308","name":"Ventricular arrhythmia","obsolete":false,"parents":["HP:0011675"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ventricular arrhythmias"}]} +{"alt_ids":["HP:0006676"],"definition":"An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway.","id":"HP:0004309","name":"Ventricular preexcitation","obsolete":false,"parents":["HP:0004308"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pre-excitation syndrome"},{"scope":"EXACT","text":"Preexcitation"},{"scope":"EXACT","text":"Ventricular pre-excitation"}]} +{"alt_ids":["HP:0004310"],"definition":"An abnormality of macrophages.","id":"HP:0004311","name":"Abnormal macrophage morphology","obsolete":false,"parents":["HP:0010974"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of histiocytes"},{"scope":"EXACT","text":"Abnormality of macrophages"}]} +{"alt_ids":[],"definition":"A reticulocyte abnormality.","id":"HP:0004312","name":"Abnormal reticulocyte morphology","obsolete":false,"parents":["HP:0001877"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of reticulocytes"}]} +{"alt_ids":["HP:0010703"],"definition":"An abnormally decreased level of immunoglobulin in blood.","id":"HP:0004313","name":"Decreased circulating immunoglobulin concentration","obsolete":false,"parents":["HP:0010701"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased antibody level in blood"},{"scope":"EXACT","text":"Decreased circulating antibody level"},{"scope":"EXACT","text":"Decreased immunoglobulin level"},{"scope":"EXACT","text":"Decreased serum immunoglobulin"},{"scope":"EXACT","text":"Hypogammaglobulinemia"},{"scope":"EXACT","text":"Immunoglobulin deficiency"},{"scope":"EXACT","text":"Reduced immunoglobulin levels"}]} +{"alt_ids":["HP:0003289","HP:0003294","HP:0005394","HP:0008325","HP:0008340"],"definition":"An abnormally decreased level of immunoglobulin G (IgG) in blood.","id":"HP:0004315","name":"Decreased circulating IgG concentration","obsolete":false,"parents":["HP:0004313","HP:0410242"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased IgG level"},{"scope":"EXACT","text":"Decreased IgG level in blood"},{"scope":"EXACT","text":"Decreased circulating IgG level"},{"scope":"EXACT","text":"Decreased gamma-globin expression"},{"scope":"EXACT","text":"Decreased immunoglobulin G"},{"scope":"EXACT","text":"Decreased serum IgG"},{"scope":"EXACT","text":"IgG deficiency"},{"scope":"EXACT","text":"Reduced IgG levels"}]} +{"alt_ids":["HP:0000355","HP:0002924","HP:0008184","HP:0008190"],"definition":"Abnormally reduced levels of aldosterone.","id":"HP:0004319","name":"Decreased circulating aldosterone concentration","obsolete":false,"parents":["HP:0040085"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased aldosterone"},{"scope":"EXACT","text":"Decreased aldosterone production"},{"scope":"EXACT","text":"Decreased serum aldosterone"},{"scope":"EXACT","text":"Hypoaldosteronism"},{"scope":"EXACT","text":"Low blood aldosterone level"},{"scope":"EXACT","text":"Mineralocorticoid insufficiency"}]} +{"alt_ids":[],"definition":"The presence of a fistula of the vagina.","id":"HP:0004320","name":"Vaginal fistula","obsolete":false,"parents":["HP:0000142","HP:0100589"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin.","id":"HP:0004321","name":"Bladder fistula","obsolete":false,"parents":["HP:0025487","HP:0100589"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001509","HP:0003501","HP:0003507","HP:0003512","HP:0003518","HP:0003519","HP:0008871","HP:0008882","HP:0008888","HP:0008913"],"definition":"A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).","id":"HP:0004322","name":"Short stature","obsolete":false,"parents":["HP:0000002","HP:0001510"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased body height"},{"scope":"EXACT","text":"Height less than 3rd percentile"},{"scope":"EXACT","text":"Short stature"},{"scope":"EXACT","text":"Small stature"},{"scope":"EXACT","text":"Stature below 3rd percentile"}]} +{"alt_ids":["HP:0010718"],"definition":"An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.","id":"HP:0004323","name":"Abnormality of body weight","obsolete":false,"parents":["HP:0001507"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of body weight"},{"scope":"RELATED","text":"Abnormality of habitus"}]} +{"alt_ids":["HP:0045083"],"definition":"Abnormally increased body weight.","id":"HP:0004324","name":"Increased body weight","obsolete":false,"parents":["HP:0004323"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased body weight"},{"scope":"RELATED","text":"Weight gain"}]} +{"alt_ids":["HP:0001823","HP:0001826"],"definition":"Abnormally low body weight.","id":"HP:0004325","name":"Decreased body weight","obsolete":false,"parents":["HP:0004323"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased body weight"},{"scope":"EXACT","text":"Decreased weight"},{"scope":"EXACT","text":"Low body weight"},{"scope":"EXACT","text":"Low weight"},{"scope":"EXACT","text":"Weight less than 3rd percentile"}]} +{"alt_ids":[],"definition":"Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.","id":"HP:0004326","name":"Cachexia","obsolete":false,"parents":["HP:0001824"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wasting syndrome"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the vitreous body.","id":"HP:0004327","name":"Abnormal vitreous humor morphology","obsolete":false,"parents":["HP:0004329"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal vitreous humour morphology"}]} +{"alt_ids":[],"definition":"An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens).","id":"HP:0004328","name":"Abnormal anterior eye segment morphology","obsolete":false,"parents":["HP:0012372"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal anterior segment morphology"},{"scope":"EXACT","text":"Abnormality of the anterior segment of the eye"},{"scope":"EXACT","text":"Abnormality of the anterior segment of the eyeball"},{"scope":"EXACT","text":"Abnormality of the anterior segment of the globe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004329","name":"Abnormal posterior eye segment morphology","obsolete":false,"parents":["HP:0012372"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal morphology of the posterior segment of the globe"},{"scope":"EXACT","text":"Abnormality of the posterior segment of the eye"},{"scope":"EXACT","text":"Abnormality of the posterior segment of the eyeball"},{"scope":"EXACT","text":"Abnormality of the posterior segment of the globe"}]} +{"alt_ids":[],"definition":"An increase in the magnitude or amount of ossification of the skull.","id":"HP:0004330","name":"Increased skull ossification","obsolete":false,"parents":["HP:0002703","HP:0011001"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperossification of skull"},{"scope":"EXACT","text":"Hyperostosis of skull"},{"scope":"RELATED","text":"Increased Mineralization of skull"},{"scope":"RELATED","text":"Increased calcification of skull"},{"scope":"EXACT","text":"Sclerosis of bones of skull"},{"scope":"EXACT","text":"Sclerosis of skull"}]} +{"alt_ids":["HP:0003780"],"definition":"A reduction in the magnitude or amount of ossification of the skull.","id":"HP:0004331","name":"Decreased skull ossification","obsolete":false,"parents":["HP:0002703","HP:0011849"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased bone formation of skull"},{"scope":"RELATED","text":"Decreased calcification of skull"},{"scope":"RELATED","text":"Decreased mineralization of skull"},{"scope":"EXACT","text":"Deficient skull ossification"},{"scope":"EXACT","text":"Hypoossification of skull"},{"scope":"EXACT","text":"Ossification defect of skull"},{"scope":"EXACT","text":"Poorly mineralized skull"},{"scope":"EXACT","text":"Poorly ossified skull"},{"scope":"EXACT","text":"Poorly ossified skull bones"}]} +{"alt_ids":["HP:0001887","HP:0012140"],"definition":"An abnormality of lymphocytes.","id":"HP:0004332","name":"Abnormal lymphocyte morphology","obsolete":false,"parents":["HP:0001881"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal lymphocytes"},{"scope":"EXACT","text":"Abnormality of cells of the lymphoid lineage"}]} +{"alt_ids":["HP:0001979"],"definition":"The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance.","id":"HP:0004333","name":"Bone-marrow foam cells","obsolete":false,"parents":["HP:0003651","HP:0004311"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bone marrow foam cells"},{"scope":"EXACT","text":"Large vacuolated foam cells ('NP cells') on bone marrow biopsy"},{"scope":"EXACT","text":"Large vacuolated foam cells on bone marrow biopsy"}]} +{"alt_ids":["HP:0000985","HP:0001077"],"definition":"Partial or complete wasting (atrophy) of the skin.","id":"HP:0004334","name":"Dermal atrophy","obsolete":false,"parents":["HP:0008065"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atrophic skin"},{"scope":"EXACT","text":"Skin atrophy"},{"scope":"EXACT","text":"Skin degeneration"}]} +{"alt_ids":["HP:0003433","HP:0006898","HP:0007290"],"definition":"The presence of excessive redundant myelin in the peripheral nerve sheath.","id":"HP:0004336","name":"Myelin outfoldings","obsolete":false,"parents":["HP:0030173"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excessive focal folding of myelin sheaths"},{"scope":"EXACT","text":"Irregular myelin foldings"}]} +{"alt_ids":[],"definition":"Abnormality of an amino acid metabolic process.","id":"HP:0004337","name":"Abnormality of amino acid metabolism","obsolete":false,"parents":["HP:0032245"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Amino acid levels abnormal"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of aromatic amino acid in the blood circulation.","id":"HP:0004338","name":"Abnormal circulating aromatic amino acid concentration","obsolete":false,"parents":["HP:0033107"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal aromatic amino acid level"},{"scope":"EXACT","text":"Abnormality of aromatic amino acid family metabolism"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of sulfur-containing amino acid in the blood circulation.","id":"HP:0004339","name":"Abnormal circulating sulfur-containing amino acid concentration","obsolete":false,"parents":["HP:0033107"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal circulating sulfur amino acid concentration"},{"scope":"EXACT","text":"Abnormal circulating sulphur amino acid concentration"},{"scope":"EXACT","text":"Abnormal sulfur-containing amino acid level"},{"scope":"EXACT","text":"Abnormality of sulfur-containing amino acids"}]} +{"alt_ids":[],"definition":"The concentration of one or more B vitamins is outside the reference range.","id":"HP:0004340","name":"Abnormal circulating vitamin B concentration","obsolete":false,"parents":["HP:0020350"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of B-vitamin metabolism"}]} +{"alt_ids":["HP:0040126"],"definition":"The concentration of vitamin B12 (or one of its metabolites) in the blood circulation is outside the limits of normal.","id":"HP:0004341","name":"Abnormal vitamin B12 concentration","obsolete":false,"parents":["HP:0004340"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal serum cobalamin level"},{"scope":"EXACT","text":"Abnormal vitamin B12 level"},{"scope":"EXACT","text":"Abnormality of the vitamin B12 metabolism"}]} +{"alt_ids":[],"definition":"Abnormality of galactoside metabolism. A galactoside is a glycoside (a sugar moiety bound to some other moiety) containing galactose.","id":"HP:0004342","name":"Abnormal galactosidase enyzme activity","obsolete":false,"parents":["HP:0003649"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of galactoside metabolism"}]} +{"alt_ids":[],"definition":"An abnormality of glycosphingolipid metabolism.","id":"HP:0004343","name":"Abnormal glycosphingolipid metabolism","obsolete":false,"parents":["HP:0010969"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of glycosphingolipid metabolism"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004344","name":"Abnormality of cerebrosidase metabolism","obsolete":false,"parents":["HP:0004343"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease).","id":"HP:0004345","name":"Ganglioside accumulation","obsolete":false,"parents":["HP:0004343"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles.","id":"HP:0004347","name":"Weakness of muscles of respiration","obsolete":false,"parents":["HP:0001324","HP:0002795"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.","id":"HP:0004348","name":"Abnormality of bone mineral density","obsolete":false,"parents":["HP:0011849"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of bone mineralisation and ossification"}]} +{"alt_ids":[],"definition":"A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.","id":"HP:0004349","name":"Reduced bone mineral density","obsolete":false,"parents":["HP:0004348"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased bone mineral density"},{"scope":"EXACT","text":"Decreased bone mineral density Z score"},{"scope":"EXACT","text":"Low solidness and mass of the bones"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of purines in the blood circulation.","id":"HP:0004352","name":"Abnormal circulating purines concentration","obsolete":false,"parents":["HP:0010932"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal circulating purine concentration"},{"scope":"EXACT","text":"Abnormal circulating purine level"},{"scope":"EXACT","text":"Abnormal purines level"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of a pyrimidine in the blood circulation.","id":"HP:0004353","name":"Abnormal circulating pyrimidine concentration","obsolete":false,"parents":["HP:0010932"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal circulating pyrimidines concentration"},{"scope":"EXACT","text":"Abnormal pyrimidines level"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of carboxylic acid in the blood circulation.","id":"HP:0004354","name":"Abnormal circulating carboxylic acid concentration","obsolete":false,"parents":["HP:0430071"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal carboxylic acid level"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004355","name":"obsolete Abnormality of proteoglycan metabolism","obsolete":true,"parents":[],"replaced_by":["HP:0001939"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004356","name":"Abnormality of lysosomal metabolism","obsolete":false,"parents":["HP:0011017"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of leucine in the blood circulation.","id":"HP:0004357","name":"Abnormal circulating leucine concentration","obsolete":false,"parents":["HP:0010892"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal leucine level"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004358","name":"Abnormality of superoxide metabolism","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of fatty acid in the blood circulation.","id":"HP:0004359","name":"Abnormal circulating fatty acid concentration","obsolete":false,"parents":["HP:0003119","HP:0010996"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal fatty acid level"},{"scope":"EXACT","text":"Abnormality of fatty acid metabolism"},{"scope":"RELATED","text":"Fatty acids abnormal"}]} +{"alt_ids":[],"definition":"An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.","id":"HP:0004360","name":"Abnormality of acid-base homeostasis","obsolete":false,"parents":["HP:0012337"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Acid base imbalance"}]} +{"alt_ids":[],"definition":"An abnormal concentration of leptin in the blood.","id":"HP:0004361","name":"Abnormal circulating leptin concentration","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of circulating leptin level"}]} +{"alt_ids":["HP:0002596","HP:0003283"],"definition":"An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow.","id":"HP:0004362","name":"Abnormal enteric ganglion morphology","obsolete":false,"parents":["HP:0025028"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of enteric ganglion morphology"},{"scope":"RELATED","text":"Abnormality of the enteric ganglia"}]} +{"alt_ids":["HP:0040077"],"definition":"Any deviation from the normal concentration of calcium in the blood circulation.","id":"HP:0004363","name":"Abnormal circulating calcium concentration","obsolete":false,"parents":["HP:0010927"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal blood calcium concentration"},{"scope":"EXACT","text":"Abnormal blood calcium levels"},{"scope":"EXACT","text":"Abnormal calcium(2+) level"},{"scope":"EXACT","text":"Abnormal circulating Ca concentration"},{"scope":"EXACT","text":"Abnormal circulating Ca2+ concentration"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of nitrogen compound in the blood circulation.","id":"HP:0004364","name":"Abnormal circulating nitrogen compound concentration","obsolete":false,"parents":["HP:0430071"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal nitrogen compound level"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of tryptophan in the blood circulation.","id":"HP:0004365","name":"Abnormal circulating tryptophan concentration","obsolete":false,"parents":["HP:0004338"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal tryptophan level"},{"scope":"EXACT","text":"Abnormality of tryptophan metabolism"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004366","name":"obsolete Abnormality of glycolysis","obsolete":true,"parents":[],"replaced_by":["HP:0011013"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004367","name":"obsolete Abnormality of glycoprotein metabolism","obsolete":true,"parents":[],"replaced_by":["HP:0001939"],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of purines in the blood circulation is above the upper limit of normal.","id":"HP:0004368","name":"Elevated circulating purine concentration","obsolete":false,"parents":["HP:0004352"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated purine concentration"},{"scope":"EXACT","text":"Elevated purines level"},{"scope":"EXACT","text":"Increased circulating purine concentration"},{"scope":"EXACT","text":"Increased purine level"},{"scope":"EXACT","text":"Increased purine levels"},{"scope":"EXACT","text":"Increased purines concentration"},{"scope":"EXACT","text":"Increased purines level"}]} +{"alt_ids":[],"definition":"The concentration of purines in the blood circulation is below the lower limit of normal.","id":"HP:0004369","name":"Decreased circulating purines concentration","obsolete":false,"parents":["HP:0004352"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating purine concentration"},{"scope":"EXACT","text":"Decreased purine level"},{"scope":"EXACT","text":"Decreased purine levels"},{"scope":"EXACT","text":"Decreased purines concentration"},{"scope":"EXACT","text":"Decreased purines level"},{"scope":"EXACT","text":"Reduced purines concentration"},{"scope":"EXACT","text":"Reduced purines level"}]} +{"alt_ids":[],"definition":"An abnormality of temperature homeostasis.","id":"HP:0004370","name":"Abnormality of temperature regulation","obsolete":false,"parents":["HP:0012337"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of temperature regulation"},{"scope":"RELATED","text":"Body temperature changes"},{"scope":"EXACT","text":"Impaired temperature control"},{"scope":"EXACT","text":"Impaired temperature regulation"},{"scope":"EXACT","text":"Inability to control temperature"},{"scope":"EXACT","text":"Inability to regulate temperature"},{"scope":"EXACT","text":"Poor control of temperature"},{"scope":"EXACT","text":"Poor regulation of temperature"},{"scope":"EXACT","text":"Poor temperature control"},{"scope":"EXACT","text":"Poor temperature regulation"},{"scope":"EXACT","text":"Unable to control temperature"}]} +{"alt_ids":[],"definition":"Abnormality of glycosaminoglycan metabolism.","id":"HP:0004371","name":"Abnormality of glycosaminoglycan metabolism","obsolete":false,"parents":["HP:0011017"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally diminished level of attention, responsiveness, or wakefulness.","id":"HP:0004372","name":"Reduced consciousness","obsolete":false,"parents":["HP:0011446"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disturbances of consciousness"},{"scope":"EXACT","text":"Lowered consciousness"},{"scope":"EXACT","text":"Reduced consciousness/confusion"}]} +{"alt_ids":["HP:0007140"],"definition":"A type of dystonia that is localized to a specific part of the body.","id":"HP:0004373","name":"Focal dystonia","obsolete":false,"parents":["HP:0001332"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.","id":"HP:0004374","name":"Hemiplegia/hemiparesis","obsolete":false,"parents":["HP:0010549"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Paralysis or weakness of one side of body"}]} +{"alt_ids":[],"definition":"A tumor (abnormal growth of tissue) of the nervous system.","id":"HP:0004375","name":"Neoplasm of the nervous system","obsolete":false,"parents":["HP:0011793","HP:0012639"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Neoplasia of the nervous system"},{"scope":"RELATED","text":"Nervous system cancer"},{"scope":"EXACT","text":"Tumor of the nervous system"},{"scope":"EXACT","text":"Tumour of the nervous system"}]} +{"alt_ids":[],"definition":"A family of tumors arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma.","id":"HP:0004376","name":"Neuroblastic tumor","obsolete":false,"parents":["HP:0100836"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neuroblastic tumour"}]} +{"alt_ids":[],"definition":"Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue).","id":"HP:0004377","name":"Hematological neoplasm","obsolete":false,"parents":["HP:0001871","HP:0011793"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Blood tumor"},{"scope":"BROAD","text":"Blood tumour"},{"scope":"EXACT","text":"Haematological neoplasm"}]} +{"alt_ids":[],"definition":"Abnormality of the anal canal.","id":"HP:0004378","name":"Abnormality of the anus","obsolete":false,"parents":["HP:0025031"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the anus"}]} +{"alt_ids":[],"definition":"An abnormality of alkaline phosphatase level.","id":"HP:0004379","name":"Abnormality of alkaline phosphatase level","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of ALP level"},{"scope":"EXACT","text":"Abnormality of alkaline phosphatase activity"},{"scope":"RELATED","text":"Alkaline phosphatase abnormal"}]} +{"alt_ids":["HP:0004759","HP:0005173"],"definition":"Deposition of calcium salts in the aortic valve.","id":"HP:0004380","name":"Aortic valve calcification","obsolete":false,"parents":["HP:0001646","HP:0005146"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow.","id":"HP:0004381","name":"Supravalvular aortic stenosis","obsolete":false,"parents":["HP:0031652"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005149","HP:0200129"],"definition":"Abnormal calcification of the mitral valve.","id":"HP:0004382","name":"Mitral valve calcification","obsolete":false,"parents":["HP:0001633","HP:0005146"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A severe congenital heart defect characterized by underdevelopment of the left ventricle.","id":"HP:0004383","name":"Hypoplastic left ventricle","obsolete":false,"parents":["HP:0001961","HP:0045017"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Heart left ventricle hypoplasia"},{"scope":"EXACT","text":"Left ventricular hypoplasia"},{"scope":"EXACT","text":"Underdeveloped left heart"}]} +{"alt_ids":[],"definition":"Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries.","id":"HP:0004384","name":"Type I truncus arteriosus","obsolete":false,"parents":["HP:0001660"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Persistent truncus arteriosus type I"},{"scope":"EXACT","text":"Type 1 truncus arteriosus"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004385","name":"Protracted diarrhea","obsolete":false,"parents":["HP:0002014"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Protracted diarrhoea"}]} +{"alt_ids":[],"definition":"Inflammation of the alimentary part of the gastrointestinal system.","id":"HP:0004386","name":"Gastrointestinal inflammation","obsolete":false,"parents":["HP:0012649","HP:0012719"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"GI inflammation"},{"scope":"EXACT","text":"Gastrointestinal inflammation"}]} +{"alt_ids":[],"definition":"An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine).","id":"HP:0004387","name":"Enterocolitis","obsolete":false,"parents":["HP:0002583"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A colon of abnormally small caliber.","id":"HP:0004388","name":"Microcolon","obsolete":false,"parents":["HP:0100811"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Microcolon on contrast enema"}]} +{"alt_ids":[],"definition":"A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded.","id":"HP:0004389","name":"Intestinal pseudo-obstruction","obsolete":false,"parents":["HP:0002242","HP:0002579"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intestinal pseudoobstruction"}]} +{"alt_ids":[],"definition":"Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture.","id":"HP:0004390","name":"Hamartomatous polyposis","obsolete":false,"parents":["HP:0005266","HP:0010566"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gastrointestinal hamartoma"},{"scope":"RELATED","text":"Gastrointestinal hamartomatous polyps"},{"scope":"EXACT","text":"Hamartomatous polyps"}]} +{"alt_ids":[],"definition":"A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants.","id":"HP:0004392","name":"Prune belly","obsolete":false,"parents":["HP:0004298"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prune belly"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004394","name":"Multiple gastric polyps","obsolete":false,"parents":["HP:0006753"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deficiency in the intake of energy and nutrients.","id":"HP:0004395","name":"Malnutrition","obsolete":false,"parents":["HP:0011458"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Malnutrition"}]} +{"alt_ids":[],"definition":"A reduced desire to eat.","id":"HP:0004396","name":"Poor appetite","obsolete":false,"parents":["HP:0011458"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased appetite"},{"scope":"EXACT","text":"Loss of appetite"},{"scope":"RELATED","text":"No appetite"},{"scope":"EXACT","text":"Poor appetite"}]} +{"alt_ids":[],"definition":"Abnormal displacement or malposition of the anus.","id":"HP:0004397","name":"Ectopic anus","obsolete":false,"parents":["HP:0034915"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal anus position"},{"scope":"EXACT","text":"Anus malposition"}]} +{"alt_ids":[],"definition":"The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers.","id":"HP:0004398","name":"Peptic ulcer","obsolete":false,"parents":["HP:0034274"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sore in the lining of gastrointestinal tract"}]} +{"alt_ids":[],"definition":"Congenital atresia of the pylorus.","id":"HP:0004399","name":"Congenital pyloric atresia","obsolete":false,"parents":["HP:0004400"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the pylorus.","id":"HP:0004400","name":"Abnormality of the pylorus","obsolete":false,"parents":["HP:0002577"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002610","HP:0004402"],"definition":"Obstruction of the intestine due to abnormally thick meconium.","id":"HP:0004401","name":"Meconium ileus","obsolete":false,"parents":["HP:0010676"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Distal intestinal obstruction syndrome"},{"scope":"EXACT","text":"Meconium ileus in neonates"},{"scope":"RELATED","text":"Meconium ileus on ultrasonography"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004403","name":"Proximal esophageal atresia","obsolete":false,"parents":["HP:0002032"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the nipple.","id":"HP:0004404","name":"Abnormal nipple morphology","obsolete":false,"parents":["HP:0031093"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the nipple"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004405","name":"Prominent nipples","obsolete":false,"parents":["HP:0004404"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prominent nipples"}]} +{"alt_ids":["HP:0003684"],"definition":null,"id":"HP:0004406","name":"Spontaneous, recurrent epistaxis","obsolete":false,"parents":["HP:0000421"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent epistaxes"},{"scope":"EXACT","text":"Recurrent epistaxis"},{"scope":"EXACT","text":"Recurring nosebleed"},{"scope":"EXACT","text":"Spontaneous, recurrent nosebleed"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004407","name":"Bony paranasal bossing","obsolete":false,"parents":["HP:0012812"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004410"],"definition":"An anomaly in the ability to perceive and distinguish scents (odors).","id":"HP:0004408","name":"Abnormality of the sense of smell","obsolete":false,"parents":["HP:0000366","HP:0012638"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal sense of smell"},{"scope":"EXACT","text":"Abnormality of olfaction"},{"scope":"EXACT","text":"Abnormality of the sense of smell"},{"scope":"EXACT","text":"Smell defect"}]} +{"alt_ids":[],"definition":"A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).","id":"HP:0004409","name":"Hyposmia","obsolete":false,"parents":["HP:0004408"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased smell sensation"},{"scope":"EXACT","text":"Sense of smell impaired"}]} +{"alt_ids":[],"definition":"Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum.","id":"HP:0004411","name":"Deviated nasal septum","obsolete":false,"parents":["HP:0000419"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Crooked nasal septum"},{"scope":"EXACT","text":"Crooked septum of nose"},{"scope":"EXACT","text":"Deviated nasal septum"},{"scope":"EXACT","text":"Deviated septum of nose"}]} +{"alt_ids":[],"definition":"An abnormality of the pulmonary artery.","id":"HP:0004414","name":"Abnormality of the pulmonary artery","obsolete":false,"parents":["HP:0004930"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of lung artery"}]} +{"alt_ids":[],"definition":"An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.","id":"HP:0004415","name":"Pulmonary artery stenosis","obsolete":false,"parents":["HP:0030966"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrowing of lung artery"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004416","name":"Precocious atherosclerosis","obsolete":false,"parents":["HP:0002621"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Premature atherosclerosis"},{"scope":"BROAD","text":"Premature plaque build-up in arteries"}]} +{"alt_ids":[],"definition":"Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still.","id":"HP:0004417","name":"Intermittent claudication","obsolete":false,"parents":["HP:0025323"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).","id":"HP:0004418","name":"Thrombophlebitis","obsolete":false,"parents":["HP:0004936"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).","id":"HP:0004419","name":"Recurrent thrombophlebitis","obsolete":false,"parents":["HP:0004418"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent phlebitis"},{"scope":"EXACT","text":"Recurrent thrombosis"}]} +{"alt_ids":[],"definition":"The formation of a blood clot inside an artery.","id":"HP:0004420","name":"Arterial thrombosis","obsolete":false,"parents":["HP:0001977"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blood clot in artery"}]} +{"alt_ids":["HP:0004956"],"definition":"Abnormal increase in systolic blood pressure.","id":"HP:0004421","name":"Elevated systolic blood pressure","obsolete":false,"parents":["HP:0032263"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated systolic BP"}]} +{"alt_ids":[],"definition":"A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull).","id":"HP:0004422","name":"Biparietal narrowing","obsolete":false,"parents":["HP:0002683"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Decreased width of the skull"}]} +{"alt_ids":[],"definition":"Cranium bifidum occultum, also known as Catlin mark, is a congenital midline skull defect presenting as an enlarged posterior fontanelle in the upper posterior angle of the parietal bone close to the intersection of the sagittal and lambdoid sutures. Cranium bifidum occultum occurs due to a defect in intramembranous ossification, a process through which skull bones (frontal, parietal, squamous temporal and occipital bones superior to the mendosal suture) ossify under a vascularized membrane toward the midline to cover the brain. Unlike cranium bifidum cysticum, cranium bifidum occultum does not have herniation of intracranial contents. As the skull grows, the midline cranium bifidum occultum defect is separated into bilateral enlarged parietal foramina (EPF) by a midline osseous bridge.","id":"HP:0004423","name":"Cranium bifidum occultum","obsolete":false,"parents":["HP:0002084"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004659"],"definition":"A forehead with abnormal flatness.","id":"HP:0004425","name":"Flat forehead","obsolete":false,"parents":["HP:0000290"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flat forehead"},{"scope":"EXACT","text":"Flattened forehead"},{"scope":"EXACT","text":"Frontal flattening"}]} +{"alt_ids":[],"definition":"An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. \"Buccal\" means relating to the cheek. The cheek is part of the midface","id":"HP:0004426","name":"Abnormal cheek morphology","obsolete":false,"parents":["HP:0000309"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the cheek"},{"scope":"EXACT","text":"Abnormality of the cheeks"},{"scope":"NARROW","text":"Anomaly of the cheeks"},{"scope":"NARROW","text":"Deformity of the cheeks"},{"scope":"NARROW","text":"Malformation of the cheeks"}]} +{"alt_ids":[],"definition":"This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations.","id":"HP:0004428","name":"Elfin facies","obsolete":false,"parents":["HP:0001999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elf-like facial appearance"},{"scope":"EXACT","text":"Elf-like facial features"},{"scope":"RELATED","text":"Leprechaun facies"}]} +{"alt_ids":["HP:0005364"],"definition":"Increased susceptibility to viral infections as manifested by recurrent episodes of viral infection.","id":"HP:0004429","name":"Recurrent viral infections","obsolete":false,"parents":["HP:0002719"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.","id":"HP:0004430","name":"Severe combined immunodeficiency","obsolete":false,"parents":["HP:0005387"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Immunodeficiency, severe combined"}]} +{"alt_ids":[],"definition":"An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins.","id":"HP:0004431","name":"Reduced circulating complement concentration","obsolete":false,"parents":["HP:0005339"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complement deficiency"}]} +{"alt_ids":["HP:0008328"],"definition":"A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured.","id":"HP:0004432","name":"Agammaglobulinemia","obsolete":false,"parents":["HP:0004313"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Agammaglobulinaemia"}]} +{"alt_ids":[],"definition":"Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens.","id":"HP:0004433","name":"Decreased secretory IgA concentration","obsolete":false,"parents":["HP:0041078"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of the complement component C8 in the blood circulation below the lower limit of normal.","id":"HP:0004434","name":"Decreased circulating complement C8 concentration","obsolete":false,"parents":["HP:0033057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"C8 deficiency"},{"scope":"EXACT","text":"Decreased serum complement C8"}]} +{"alt_ids":["HP:0002698"],"definition":"Excessive growth of the bones of cranium, i.e., of the skull.","id":"HP:0004437","name":"Cranial hyperostosis","obsolete":false,"parents":["HP:0002683","HP:0100774"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Enlargement of skull bones"},{"scope":"BROAD","text":"Excessive growth of skull bones"},{"scope":"EXACT","text":"Hyperostosis of cranial bones"},{"scope":"EXACT","text":"Hyperostosis of cranial vault"},{"scope":"BROAD","text":"Hypertrophy of cranial bones"},{"scope":"EXACT","text":"Increased ossification of cranial bones"},{"scope":"BROAD","text":"Overgrowth of skull bones"},{"scope":"BROAD","text":"Thick skull bones"}]} +{"alt_ids":[],"definition":"Bony overgrowth of the internal (endosteal) surface of the frontal bone.","id":"HP:0004438","name":"Hyperostosis frontalis interna","obsolete":false,"parents":["HP:0004437"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Enlargement of the inner surface of the frontal bone"},{"scope":"EXACT","text":"Excessive growth of inner surface of the frontal bone"},{"scope":"EXACT","text":"Hyperostosis of the internal surface of the frontal bone"},{"scope":"BROAD","text":"Hypertrophy of the internal surface of the frontal bone"},{"scope":"BROAD","text":"Increased ossification of the internal surface of the frontal bone"},{"scope":"EXACT","text":"Overgrowth of the inner surface of the frontal bone"},{"scope":"BROAD","text":"Overgrowth of the inside of the frontal bone"},{"scope":"BROAD","text":"Thick inner surface of the frontal bone"},{"scope":"BROAD","text":"Thick internal surface of the frontal bone"}]} +{"alt_ids":[],"definition":"A characteristic appearance resulting from defective ossification of craniofacial bones.","id":"HP:0004439","name":"Craniofacial dysostosis","obsolete":false,"parents":["HP:0000271","HP:0000929"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Crouzon syndrome"}]} +{"alt_ids":["HP:0002675","HP:0002685","HP:0002739","HP:0004441"],"definition":"Premature closure of the coronal suture of skull.","id":"HP:0004440","name":"Coronal craniosynostosis","obsolete":false,"parents":["HP:0001363"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Coronal suture craniosynostosis"},{"scope":"EXACT","text":"Coronal suture synostosis"},{"scope":"EXACT","text":"Craniosynostosis of coronal suture"}]} +{"alt_ids":[],"definition":"A kind of craniosynostosis affecting the sagittal suture.","id":"HP:0004442","name":"Sagittal craniosynostosis","obsolete":false,"parents":["HP:0001363"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Craniosynostosis, sagittal"},{"scope":"EXACT","text":"Craniosynostosis, sagittal suture"},{"scope":"EXACT","text":"Early closure of midline skull joint"},{"scope":"EXACT","text":"Midline skull joint closes early"},{"scope":"EXACT","text":"Sagittal suture synostosis"}]} +{"alt_ids":["HP:0004486"],"definition":"A kind of craniosynostosis affecting the lambdoidal suture.","id":"HP:0004443","name":"Lambdoidal craniosynostosis","obsolete":false,"parents":["HP:0001363"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lambdoid suture craniosynostosis"},{"scope":"EXACT","text":"Lambdoid suture synostosis"}]} +{"alt_ids":["HP:0004816"],"definition":"The presence of erythrocytes that are sphere-shaped.","id":"HP:0004444","name":"Spherocytosis","obsolete":false,"parents":["HP:0004447"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004837"],"definition":"The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.","id":"HP:0004445","name":"Elliptocytosis","obsolete":false,"parents":["HP:0004447"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Elliptocyte"},{"scope":"RELATED","text":"Hereditary elliptocytosis"},{"scope":"EXACT","text":"Ovalocytes"},{"scope":"EXACT","text":"Ovalocytosis"}]} +{"alt_ids":["HP:0004801"],"definition":"The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.","id":"HP:0004446","name":"Stomatocytosis","obsolete":false,"parents":["HP:0004447"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Red cell stomatocytosis"},{"scope":"EXACT","text":"erythrocyte stomatocytes"}]} +{"alt_ids":["HP:0005540"],"definition":"The presence of abnormally shaped erythrocytes.","id":"HP:0004447","name":"Poikilocytosis","obsolete":false,"parents":["HP:0001877"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver.","id":"HP:0004448","name":"Fulminant hepatic failure","obsolete":false,"parents":["HP:0006554"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A groove of the skin immediately in front of the ear.","id":"HP:0004450","name":"Preauricular skin furrow","obsolete":false,"parents":["HP:0000383"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Preauricular skin furrows"},{"scope":"EXACT","text":"Preauricular skin groove"},{"scope":"EXACT","text":"Preauricular skin sulcus"},{"scope":"EXACT","text":"Skin groove in front of the ear"},{"scope":"EXACT","text":"Skin sulcus in front of the ear"}]} +{"alt_ids":[],"definition":"A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear).","id":"HP:0004451","name":"Postauricular skin tag","obsolete":false,"parents":["HP:0000383"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Postauricular acrochordon"},{"scope":"EXACT","text":"Postauricular fibroepithelial polyp"},{"scope":"EXACT","text":"Skin tag behind the ear"}]} +{"alt_ids":["HP:0001759"],"definition":"An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).","id":"HP:0004452","name":"Abnormality of the middle ear ossicles","obsolete":false,"parents":["HP:0008609"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Malformed ossicles"},{"scope":"EXACT","text":"Ossicular malformation"}]} +{"alt_ids":[],"definition":"A condition in which the superior portion of the helix is folded over to a greater degree than normal.","id":"HP:0004453","name":"Overfolding of the superior helices","obsolete":false,"parents":["HP:0000396"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Overfolding of superior helix"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004454","name":"Abnormal middle ear reflexes","obsolete":false,"parents":["HP:0011452"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a dilated inner part of external acoustic meatus.","id":"HP:0004458","name":"Dilatated internal auditory canal","obsolete":false,"parents":["HP:0011384"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bulbous internal auditory canal"},{"scope":"EXACT","text":"Enlarged internal auditory canal"}]} +{"alt_ids":[],"definition":"A benign bony growth projecting outward from a bone surface within the external auditory canal.","id":"HP:0004459","name":"Exostosis of the external auditory canal","obsolete":false,"parents":["HP:0000372","HP:0040095","HP:0100777"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"External auditory canal exostoses"}]} +{"alt_ids":[],"definition":"Pits in the earlobes at the location where ears are typically pierced for earrings.","id":"HP:0004461","name":"Congenital earlobe sinuses","obsolete":false,"parents":["HP:0000363"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lack of measurable response to stimulation of auditory evoked potentials.","id":"HP:0004463","name":"Absent brainstem auditory responses","obsolete":false,"parents":["HP:0006958"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"No auditory brainstem response"}]} +{"alt_ids":[],"definition":"Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit.","id":"HP:0004464","name":"Postauricular pit","obsolete":false,"parents":["HP:0100277"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pit behind the ear"},{"scope":"EXACT","text":"Postauricular earpits"},{"scope":"EXACT","text":"Postauricular fistula"},{"scope":"EXACT","text":"Posterior auricular pit"},{"scope":"EXACT","text":"Posterior auricular sinus"}]} +{"alt_ids":[],"definition":"An abnormal increase (delay) in the conduction time of the brainstem auditory-evoked response.","id":"HP:0004466","name":"Delayed brainstem auditory evoked response conduction time","obsolete":false,"parents":["HP:0006958"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0000392","HP:0004460","HP:0005118","HP:0008552","HP:0008578"],"definition":"Small indentation anterior to the insertion of the ear.","id":"HP:0004467","name":"Preauricular pit","obsolete":false,"parents":["HP:0100277"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ear pit"},{"scope":"EXACT","text":"Pit in front of the ear"},{"scope":"EXACT","text":"Preauricular earpits"},{"scope":"EXACT","text":"Preauricular fistulas"},{"scope":"EXACT","text":"Preauricular pits"},{"scope":"EXACT","text":"Preauricular sinus"}]} +{"alt_ids":[],"definition":"An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue).","id":"HP:0004468","name":"Anomalous tracheal cartilage","obsolete":false,"parents":["HP:0002778"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal tracheal cartilaginous ring"}]} +{"alt_ids":[],"definition":"Chronic inflammation of the bronchi.","id":"HP:0004469","name":"Chronic bronchitis","obsolete":false,"parents":["HP:0012387"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues.","id":"HP:0004470","name":"Atretic occipital cephalocele","obsolete":false,"parents":["HP:0011815"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline.","id":"HP:0004471","name":"Aplasia cutis congenita over the scalp vertex","obsolete":false,"parents":["HP:0007385"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent cutis congenita of vertex"},{"scope":"EXACT","text":"Aplasia cutis congenita of vertex"}]} +{"alt_ids":[],"definition":"Hyperostosis (bony overgrowth) of the mandible.","id":"HP:0004472","name":"Mandibular hyperostosis","obsolete":false,"parents":["HP:0005465"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Excessive growth of mandibular bone"},{"scope":"EXACT","text":"Hyperostosis of lower jaw"},{"scope":"EXACT","text":"Hyperostosis of mandibular bone"},{"scope":"RELATED","text":"Increased ossification of lower jaw"},{"scope":"RELATED","text":"Increased ossification of mandible"},{"scope":"EXACT","text":"Increased ossification of mandibular bone"},{"scope":"BROAD","text":"Overgrowth of mandibular bone"},{"scope":"BROAD","text":"Thick lower jaw bone"},{"scope":"BROAD","text":"Thick mandibular bone"}]} +{"alt_ids":["HP:0004475","HP:0004483"],"definition":"The anterior fontanelle generally ossifies by around the 18th month of life. 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abnormally large skull.","id":"HP:0004481","name":"Progressive macrocephaly","obsolete":false,"parents":["HP:0000256"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Macrocephaly, progressive"},{"scope":"EXACT","text":"Progressively abnormally enlarging cranium"},{"scope":"EXACT","text":"Progressively abnormally enlarging skull"}]} +{"alt_ids":["HP:0000257","HP:0001364"],"definition":"A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.","id":"HP:0004482","name":"Relative macrocephaly","obsolete":false,"parents":["HP:0000256"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disproportionately large head"},{"scope":"EXACT","text":"Macrocephaly, relative"},{"scope":"EXACT","text":"Relatively large head"}]} +{"alt_ids":[],"definition":"Asymmetry of the bones of the skull and the face.","id":"HP:0004484","name":"Craniofacial asymmetry","obsolete":false,"parents":["HP:0000267","HP:0000324","HP:0011821"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormality of craniofacial shape"},{"scope":"RELATED","text":"Malformation of craniofacial shape"},{"scope":"EXACT","text":"Uneven craniofacial structures"}]} +{"alt_ids":[],"definition":"Stagnation of head growth seen as flattening of the head circumference curve.","id":"HP:0004485","name":"Cessation of head growth","obsolete":false,"parents":["HP:0005484"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cranium stopped growing"},{"scope":"EXACT","text":"Head stopped growing"},{"scope":"BROAD","text":"Skull stopped growing"}]} +{"alt_ids":[],"definition":"An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures.","id":"HP:0004487","name":"Acrobrachycephaly","obsolete":false,"parents":["HP:0000248"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of an abnormally large skull with onset at birth.","id":"HP:0004488","name":"Macrocephaly at birth","obsolete":false,"parents":["HP:0000256"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Big cranium present at birth"},{"scope":"EXACT","text":"Big cranium present since birth"},{"scope":"BROAD","text":"Big head present at birth"},{"scope":"BROAD","text":"Big head present since birth"},{"scope":"EXACT","text":"Big skull present at birth"},{"scope":"EXACT","text":"Big skull present since birth"},{"scope":"EXACT","text":"Congenital large cranium"},{"scope":"BROAD","text":"Congenital large head"},{"scope":"EXACT","text":"Congenital large skull"},{"scope":"EXACT","text":"Congenital macrocephaly"},{"scope":"EXACT","text":"Head circumference large for gestational age"},{"scope":"EXACT","text":"Large cranium present at birth"},{"scope":"EXACT","text":"Large cranium present since birth"},{"scope":"BROAD","text":"Large head present at birth"},{"scope":"BROAD","text":"Large head present since birth"},{"scope":"EXACT","text":"Large skull present at birth"},{"scope":"EXACT","text":"Large skull present since birth"}]} +{"alt_ids":[],"definition":"Excessive growth of the calvaria.","id":"HP:0004490","name":"Calvarial hyperostosis","obsolete":false,"parents":["HP:0004437"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Enlargement of calvarial bones"},{"scope":"BROAD","text":"Excessive growth of calvarial bones"},{"scope":"EXACT","text":"Hyperostosis of calvarial bones"},{"scope":"BROAD","text":"Hypertrophy of calvarial bones"},{"scope":"EXACT","text":"Increased ossification of calvarial bones"},{"scope":"BROAD","text":"Overgrowth of calvarial bones"},{"scope":"EXACT","text":"Overgrowth of skullcap"},{"scope":"BROAD","text":"Thick calvarial bones"}]} +{"alt_ids":[],"definition":"An enlargement of the posterior fontanelle relative to age-dependent norms.","id":"HP:0004491","name":"Large posterior fontanelle","obsolete":false,"parents":["HP:0000239"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Large posterior fontanel"}]} +{"alt_ids":["HP:0002646","HP:0005492"],"definition":"An abnormally increased width of the cranial fontanelles and sutures.","id":"HP:0004492","name":"Widely patent fontanelles and sutures","obsolete":false,"parents":["HP:0000239","HP:0010537"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Widely patent fontanels and sutures"}]} +{"alt_ids":[],"definition":"Excessive growth of the craniofacial bones.","id":"HP:0004493","name":"Craniofacial hyperostosis","obsolete":false,"parents":["HP:0000271","HP:0004437","HP:0011821"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Enlargement of craniofacial bones"},{"scope":"EXACT","text":"Excessive bone growth of the skull and face"},{"scope":"BROAD","text":"Excessive growth of craniofacial 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+{"alt_ids":["HP:0004513"],"definition":"Reduced or lacking hair growth in a generalized distribution.","id":"HP:0004528","name":"Generalized hypotrichosis","obsolete":false,"parents":["HP:0008070"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised hypotrichosis"},{"scope":"EXACT","text":"Hypotrichosis, generalised"},{"scope":"EXACT","text":"Hypotrichosis, generalized"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004529","name":"Atrophic, patchy alopecia","obsolete":false,"parents":["HP:0002232"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excessive, increased hair growth located in the sacral region.","id":"HP:0004532","name":"Sacral hypertrichosis","obsolete":false,"parents":["HP:0000998"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004517","HP:0004773"],"definition":"Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal 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+{"alt_ids":[],"definition":null,"id":"HP:0004552","name":"Scarring alopecia of scalp","obsolete":false,"parents":["HP:0000987","HP:0002293"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cicatricial alopecia"},{"scope":"RELATED","text":"Hair loss on scalp from scarring condition"}]} +{"alt_ids":["HP:0004543","HP:0004766"],"definition":"Generalized excessive, abnormal hairiness.","id":"HP:0004554","name":"Generalized hypertrichosis","obsolete":false,"parents":["HP:0000998"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised hypertrichosis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004557","name":"Anterior vertebral fusion","obsolete":false,"parents":["HP:0002948"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005641"],"definition":"A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine.","id":"HP:0004558","name":"Cervical 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+{"alt_ids":["HP:0004564"],"definition":null,"id":"HP:0004565","name":"Severe platyspondyly","obsolete":false,"parents":["HP:0000926"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"platyspondyly, extreme"}]} +{"alt_ids":[],"definition":"Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours.","id":"HP:0004566","name":"Pear-shaped vertebrae","obsolete":false,"parents":["HP:0003312"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pear-shaped vertebral bodies"}]} +{"alt_ids":["HP:0003313","HP:0003315","HP:0004569","HP:0004577","HP:0004584","HP:0005122"],"definition":"Anterior tongue-like protrusions of the vertebral bodies.","id":"HP:0004568","name":"Beaking of vertebral bodies","obsolete":false,"parents":["HP:0003312"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anterior beaking of vertebrae"},{"scope":"EXACT","text":"Anterior beaking of vertebral bodies"},{"scope":"EXACT","text":"Beaked vertebral bodies"},{"scope":"EXACT","text":"Vertebral tongue-like protrusion"},{"scope":"EXACT","text":"anterior beaking"}]} +{"alt_ids":["HP:0005693"],"definition":"Increased top to bottom height of vertebral bodies.","id":"HP:0004570","name":"Increased vertebral height","obsolete":false,"parents":["HP:0003312"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tall vertebral bodies"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004571","name":"Widening of cervical spinal canal","obsolete":false,"parents":["HP:0046508"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front).","id":"HP:0004573","name":"Anterior wedging of T11","obsolete":false,"parents":["HP:0008422"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anterior wedging of the 11th thoracic vertebra"},{"scope":"EXACT","text":"Wedge-shaped 11th thoracic vertebra"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004575","name":"Fusion of midcervical facet joints","obsolete":false,"parents":["HP:0002949"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Sclerosis (increased density) affecting vertebral end plates.","id":"HP:0004576","name":"Sclerotic vertebral endplates","obsolete":false,"parents":["HP:0005106"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Endplate sclerosis"}]} +{"alt_ids":[],"definition":"An excessive concavity of the anterior surface of one or more vertebral bodies.","id":"HP:0004580","name":"Anterior scalloping of vertebral bodies","obsolete":false,"parents":["HP:0004586"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Anterior scalloping vertebral bodies"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004581","name":"Increased anterior vertebral height","obsolete":false,"parents":["HP:0004570"],"replaced_by":[],"synonyms":[]} 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sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine.","id":"HP:0004598","name":"Supernumerary vertebral ossification centers","obsolete":false,"parents":["HP:0000926","HP:0100569"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Supernumerary vertebral ossification centres"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004599","name":"Absent or minimally ossified vertebral bodies","obsolete":false,"parents":["HP:0100569"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin.","id":"HP:0004601","name":"Spina bifida occulta at L5","obsolete":false,"parents":["HP:0003298"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004636"],"definition":"Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of 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bodies","obsolete":false,"parents":["HP:0004599"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anterior tongue-like protrusions of the lower thoracic vertebral bodies.","id":"HP:0004607","name":"Anterior beaking of lower thoracic vertebrae","obsolete":false,"parents":["HP:0004568"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anterior mislocalization of the dens of the axis.","id":"HP:0004608","name":"Anteriorly placed odontoid process","obsolete":false,"parents":["HP:0003310"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004609","name":"Patchy distortion of vertebrae","obsolete":false,"parents":["HP:0003312"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal narrowing of the lumbar spinal canal.","id":"HP:0004610","name":"Lumbar spinal canal stenosis","obsolete":false,"parents":["HP:0003416"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lumbar spinal stenosis"},{"scope":"EXACT","text":"Narrow lumbar spinal canal"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004611","name":"Anterior concavity of thoracic vertebrae","obsolete":false,"parents":["HP:0003312"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anteriorly concave vertebrae"}]} +{"alt_ids":[],"definition":"The closed form of spina bifida with incomplete closure of S1 with intact overlying skin.","id":"HP:0004614","name":"Spina bifida occulta at S1","obsolete":false,"parents":["HP:0003298"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra.","id":"HP:0004616","name":"Cleft vertebral arch","obsolete":false,"parents":["HP:0008438"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Cleft vertebral arches"}]} +{"alt_ids":[],"definition":"Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends.","id":"HP:0004617","name":"Butterfly vertebral 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+{"alt_ids":[],"definition":null,"id":"HP:0004696","name":"Talipes cavus equinovarus","obsolete":false,"parents":["HP:0001762"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decrease in mass and density of the metatarsal bones.","id":"HP:0004699","name":"Osteoporotic metatarsal","obsolete":false,"parents":["HP:0001832"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004702","HP:0010671"],"definition":"Short (hypoplastic) fifth metatarsal bone.","id":"HP:0004704","name":"Short fifth metatarsal","obsolete":false,"parents":["HP:0008089","HP:0010743"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplasia of the fifth metatarsal bone"},{"scope":"EXACT","text":"Short 5th long bone of foot"}]} +{"alt_ids":["HP:0004730"],"definition":"An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney.","id":"HP:0004712","name":"Renal 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signal.","id":"HP:0004719","name":"Hyperechogenic kidneys","obsolete":false,"parents":["HP:0033130"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Echogenic kidneys"},{"scope":"EXACT","text":"Increased echogenicity of the renal parenchyma"}]} +{"alt_ids":[],"definition":"Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney.","id":"HP:0004722","name":"Thickened glomerular basement membrane","obsolete":false,"parents":["HP:0033282"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thickening of the glomerular basement membrane"}]} +{"alt_ids":[],"definition":"The presence of calcium-containing calculi (stones) in the kidneys.","id":"HP:0004724","name":"Calcium nephrolithiasis","obsolete":false,"parents":["HP:0000787"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ca kidney stone"},{"scope":"EXACT","text":"Ca nephrolithiasis"},{"scope":"EXACT","text":"Ca2+ kidney stone"},{"scope":"EXACT","text":"Ca2+ nephrolithiasis"},{"scope":"EXACT","text":"Calcium kidney stone"}]} +{"alt_ids":["HP:0005568"],"definition":"A defect in the ability to concentrate the urine.","id":"HP:0004727","name":"Impaired renal concentrating ability","obsolete":false,"parents":["HP:0011038"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Urine concentrating defect"},{"scope":"EXACT","text":"Urine concentration defect"}]} +{"alt_ids":[],"definition":"Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.","id":"HP:0004729","name":"Acute tubulointerstitial nephritis","obsolete":false,"parents":["HP:0001970"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction in the ability of the kidneys to remove uric acid from the serum.","id":"HP:0004732","name":"Impaired renal uric acid clearance","obsolete":false,"parents":["HP:0011036"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uric acid fractional 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This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys.","id":"HP:0004736","name":"Crossed fused renal ectopia","obsolete":false,"parents":["HP:0000086"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Crossed-fused renal ectopia"},{"scope":"EXACT","text":"Ectopic kidney with fusion"}]} +{"alt_ids":[],"definition":"Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%.","id":"HP:0004737","name":"Global glomerulosclerosis","obsolete":false,"parents":["HP:0000096"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004731"],"definition":"An abnormality of the renal collecting system.","id":"HP:0004742","name":"Abnormal renal collecting system morphology","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal collecting system"},{"scope":"EXACT","text":"Abnormality of the renal collecting system"},{"scope":"EXACT","text":"Renal collecting system anomalies"}]} +{"alt_ids":[],"definition":"Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.","id":"HP:0004743","name":"Chronic tubulointerstitial nephritis","obsolete":false,"parents":["HP:0001970"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Electron dense deposits at the glomerular basement membrane,","id":"HP:0004746","name":"Glomerular subendothelial electron-dense deposits","obsolete":false,"parents":["HP:0030949"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Dense deposit disease"},{"scope":"RELATED","text":"Membranoproliferative glomerulonephritis type II"}]} +{"alt_ids":[],"definition":"A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit.","id":"HP:0004749","name":"Atrial flutter","obsolete":false,"parents":["HP:0001692"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005141"],"definition":"Episodes of ventricular tachycardia that have a sudden onset and ending.","id":"HP:0004751","name":"Paroxysmal ventricular tachycardia","obsolete":false,"parents":["HP:0004756"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Episodes of ventricular tachycardia"}]} +{"alt_ids":[],"definition":"A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset.","id":"HP:0004752","name":"Congenital atrioventricular dissociation","obsolete":false,"parents":["HP:0011709"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.","id":"HP:0004754","name":"Permanent atrial fibrillation","obsolete":false,"parents":["HP:0005110"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Chronic atrial fibrillation"}]} +{"alt_ids":[],"definition":"Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.","id":"HP:0004755","name":"Supraventricular tachycardia","obsolete":false,"parents":["HP:0001649","HP:0005115"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"SVT"},{"scope":"EXACT","text":"Supraventricular tachyarrhythmia"}]} +{"alt_ids":[],"definition":"A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).","id":"HP:0004756","name":"Ventricular tachycardia","obsolete":false,"parents":["HP:0001649"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.","id":"HP:0004757","name":"Paroxysmal atrial fibrillation","obsolete":false,"parents":["HP:0005110"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atrial fibrillation, paroxysmal"},{"scope":"EXACT","text":"Intermittent atrial fibrillation"},{"scope":"EXACT","text":"Paroxysmal AF"}]} +{"alt_ids":[],"definition":"Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration.","id":"HP:0004758","name":"Effort-induced polymorphic ventricular tachycardia","obsolete":false,"parents":["HP:0004756"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Catecholaminergic polymorphic ventricular tachycardia"},{"scope":"EXACT","text":"Exercise-induced polymorphic ventricular tachycardia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004759","name":"obsolete Nodular calcific aortic valve disease","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004760","name":"obsolete Congenital septal defect","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004761","name":"Post-angioplasty coronary artery restenosis","obsolete":false,"parents":["HP:0001677"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004951"],"definition":"Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.","id":"HP:0004762","name":"Hypoplasia of right ventricle","obsolete":false,"parents":["HP:0001707"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Heart right ventricle hypoplasia"},{"scope":"EXACT","text":"Small right heart chamber"},{"scope":"EXACT","text":"Underdeveloped right heart chamber"}]} 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elbow"},{"scope":"EXACT","text":"Hairy elbow syndrome"},{"scope":"EXACT","text":"Hypertrichosis cubiti"},{"scope":"EXACT","text":"Pilosity of elbow"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004782","name":"obsolete Hypotrichosis of the scalp","obsolete":true,"parents":[],"replaced_by":["HP:0002209"],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of multiple polyps in the duodenum.","id":"HP:0004783","name":"Duodenal polyposis","obsolete":false,"parents":["HP:0030256"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multiple duodenal polyps"}]} +{"alt_ids":[],"definition":"The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps.","id":"HP:0004784","name":"Juvenile gastrointestinal polyposis","obsolete":false,"parents":["HP:0004390"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Juvenile GI polyposis"}]} +{"alt_ids":[],"definition":"An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis.","id":"HP:0004785","name":"Malrotation of colon","obsolete":false,"parents":["HP:0002250","HP:0002566"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004786","name":"Jejunal diverticula","obsolete":false,"parents":["HP:0002256"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice.","id":"HP:0004787","name":"Fulminant hepatitis","obsolete":false,"parents":["HP:0004448","HP:0012115"],"replaced_by":[],"synonyms":[]} 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infections, recurrent"},{"scope":"EXACT","text":"Recurrent gastrointestinal infections"},{"scope":"EXACT","text":"Recurrent infection of the GI tract"},{"scope":"EXACT","text":"Recurrent infection of the gastrointestinal tract"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004799","name":"Jejunoileal diverticula","obsolete":false,"parents":["HP:0002256"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004800","name":"Duodenal diverticula","obsolete":false,"parents":["HP:0002256"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of hemolytic anemia that occurs in repeated episodes.","id":"HP:0004802","name":"Episodic hemolytic anemia","obsolete":false,"parents":["HP:0001878"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Episodic hemolysis"},{"scope":"EXACT","text":"Episodic hemolytic anaemia"}]} +{"alt_ids":["HP:0004811","HP:0004824"],"definition":"A form of hemolytic anemia with congenital onset.","id":"HP:0004804","name":"Congenital hemolytic anemia","obsolete":false,"parents":["HP:0001878"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital haemolytic anaemia"},{"scope":"EXACT","text":"Congenital haemolytic anemia"},{"scope":"EXACT","text":"Congenital hemolytic anaemia"},{"scope":"RELATED","text":"Neonatal hemolytic anaemia"},{"scope":"RELATED","text":"Neonatal hemolytic anemia"}]} +{"alt_ids":["HP:0001914","HP:0004843","HP:0005516","HP:0006724","HP:0006728"],"definition":"A form of leukemia characterized by overproduction of an early myeloid cell.","id":"HP:0004808","name":"Acute myeloid leukemia","obsolete":false,"parents":["HP:0002488"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"AML"},{"scope":"EXACT","text":"Acute myeloblastic leukaemia"},{"scope":"EXACT","text":"Acute myeloblastic leukemia"},{"scope":"EXACT","text":"Acute myelocytic leukaemia"},{"scope":"EXACT","text":"Acute myelocytic leukemia"},{"scope":"EXACT","text":"Acute myelogenous leukaemia"},{"scope":"EXACT","text":"Acute myelogenous leukemia"},{"scope":"EXACT","text":"Acute myeloid leukaemia"}]} +{"alt_ids":[],"definition":"Low platelet count associated with maternal platelet-specific alloantibodies.","id":"HP:0004809","name":"Neonatal alloimmune thrombocytopenia","obsolete":false,"parents":["HP:0001873"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005545"],"definition":"A type of hypoplastic anemia with congenital onset.","id":"HP:0004810","name":"Congenital hypoplastic anemia","obsolete":false,"parents":["HP:0001908"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital dyserythropoietic anaemia"},{"scope":"EXACT","text":"Congenital dyserythropoietic anemia"},{"scope":"EXACT","text":"Congenital hypoplastic anaemia"}]} +{"alt_ids":[],"definition":"A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood.","id":"HP:0004812","name":"B Acute Lymphoblastic Leukemia","obsolete":false,"parents":["HP:0006721"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"B Acute Lymphoblastic Leukaemia"},{"scope":"EXACT","text":"Pre-B-cell acute lymphoblastic leukaemia"},{"scope":"EXACT","text":"Pre-B-cell acute lymphoblastic leukemia"}]} +{"alt_ids":[],"definition":"Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages.","id":"HP:0004813","name":"Post-transfusion thrombocytopenia","obsolete":false,"parents":["HP:0001873"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Post-transfusion purpura"}]} +{"alt_ids":[],"definition":"A kind of hemolytic anemia that is induced by the ingestion of fava beans.","id":"HP:0004814","name":"Fava bean-induced hemolytic anemia","obsolete":false,"parents":["HP:0001878"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fava bean-induced hemolytic anaemia"},{"scope":"EXACT","text":"Hemolytic anaemia following ingestion of fava beans"},{"scope":"EXACT","text":"Hemolytic anemia following ingestion of fava beans"}]} +{"alt_ids":[],"definition":"A form of hemolytic anemia that is triggered by ingestion of certain drugs.","id":"HP:0004817","name":"Drug-sensitive hemolytic anemia","obsolete":false,"parents":["HP:0001878"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Drug-sensitive hemolytic anaemia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004818","name":"Paroxysmal nocturnal hemoglobinuria","obsolete":false,"parents":["HP:0003641"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Paroxysmal nocturnal haemoglobinuria"}]} +{"alt_ids":[],"definition":"A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits).","id":"HP:0004819","name":"Normocytic hypoplastic anemia","obsolete":false,"parents":["HP:0001908"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Normocytic hypoplastic anaemia"}]} +{"alt_ids":[],"definition":"An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.","id":"HP:0004820","name":"Acute myelomonocytic leukemia","obsolete":false,"parents":["HP:0002488","HP:0012324"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acute myelomonocytic leukaemia"}]} +{"alt_ids":[],"definition":"An excessive division of the lobes of the nucleus of a neutrophil.","id":"HP:0004821","name":"Hypersegmentation of neutrophil nuclei","obsolete":false,"parents":["HP:0011992"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypermature neutrophils"},{"scope":"EXACT","text":"Hypersegmentation of neutrophil nuclei in peripheral blood"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004822","name":"Atypical elliptocytosis","obsolete":false,"parents":["HP:0004445"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.","id":"HP:0004823","name":"Anisopoikilocytosis","obsolete":false,"parents":["HP:0004447"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal increase in the binding affinity of hemoglobin for oxygen.","id":"HP:0004825","name":"Increased hemoglobin oxygen affinity","obsolete":false,"parents":["HP:0020054"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased Hb O2 affinity"},{"scope":"EXACT","text":"Increased Hb oxygen affinity"},{"scope":"EXACT","text":"Increased haemoglobin O2 affinity"},{"scope":"EXACT","text":"Increased hemoglobin O2 affinity"}]} +{"alt_ids":[],"definition":"A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia.","id":"HP:0004826","name":"Folate-unresponsive megaloblastic anemia","obsolete":false,"parents":["HP:0001889"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Folate-unresponsive megaloblastic anaemia"}]} +{"alt_ids":[],"definition":"A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts.","id":"HP:0004828","name":"Refractory anemia with ringed sideroblasts","obsolete":false,"parents":["HP:0012130","HP:0012150"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Myelodysplasia with sideroblastosis"},{"scope":"EXACT","text":"Refractory anaemia with ringed sideroblasts"}]} +{"alt_ids":[],"definition":"Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream.","id":"HP:0004831","name":"Recurrent thromboembolism","obsolete":false,"parents":["HP:0001907"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Recurrent thromboembolic disease"}]} +{"alt_ids":[],"definition":"The presence of erythrocytes that are sphere-shaped and reduced in size.","id":"HP:0004835","name":"Microspherocytosis","obsolete":false,"parents":["HP:0004444"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of acute myeloid leukemia in which abnormal promyelocytes predominate.","id":"HP:0004836","name":"Acute promyelocytic leukemia","obsolete":false,"parents":["HP:0002488"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acute promyelocytic leukaemia"}]} +{"alt_ids":["HP:0004805"],"definition":"A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn.","id":"HP:0004839","name":"Pyropoikilocytosis","obsolete":false,"parents":["HP:0004447"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"hereditary pyropoikilocytosis"}]} +{"alt_ids":["HP:0004842"],"definition":"A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.","id":"HP:0004840","name":"Hypochromic microcytic anemia","obsolete":false,"parents":["HP:0001931","HP:0001935"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypochromic microcytic anaemia"},{"scope":"EXACT","text":"Hypochromic, microcytic anaemia"},{"scope":"EXACT","text":"Hypochromic, microcytic anemia"}]} +{"alt_ids":["HP:0005514","HP:0005551","HP:0008286"],"definition":"Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade.","id":"HP:0004841","name":"Reduced factor XII activity","obsolete":false,"parents":["HP:0010989"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Factor XII deficiency"},{"scope":"EXACT","text":"Hageman factor deficiency"}]} +{"alt_ids":["HP:0003539"],"definition":"A type of hemolytic anemia in which the Coombs test is positive.","id":"HP:0004844","name":"Coombs-positive hemolytic anemia","obsolete":false,"parents":["HP:0001878"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Coombs-positive hemolytic anaemia"},{"scope":"EXACT","text":"Direct Coombs positive"}]} +{"alt_ids":["HP:0004833"],"definition":"The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation.","id":"HP:0004845","name":"Acute monocytic leukemia","obsolete":false,"parents":["HP:0002488"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"AML-M5"},{"scope":"EXACT","text":"AMoL"},{"scope":"EXACT","text":"Acute monoblastic leukaemia"},{"scope":"EXACT","text":"Acute monoblastic leukemia"},{"scope":"EXACT","text":"Acute monocytic leukaemia"}]} +{"alt_ids":[],"definition":"Bleeding that persists longer than the normal time following a surgical procedure.","id":"HP:0004846","name":"Prolonged bleeding after surgery","obsolete":false,"parents":["HP:0011890"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excessive bleeding during surgery"},{"scope":"EXACT","text":"Prolonged bleeding after surgery"},{"scope":"EXACT","text":"Protracted bleeding after surgery"}]} +{"alt_ids":[],"definition":"A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity.","id":"HP:0004848","name":"Ph-positive acute lymphoblastic leukemia","obsolete":false,"parents":["HP:0006721"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ph-positive acute lymphoblastic leukaemia"},{"scope":"EXACT","text":"Philadelphia-positive acute lymphoblastic leukaemia"},{"scope":"EXACT","text":"Philadelphia-positive acute lymphoblastic leukemia"}]} +{"alt_ids":[],"definition":"Repeated episodes of the formation of a blot clot in a deep vein.","id":"HP:0004850","name":"Recurrent deep vein thrombosis","obsolete":false,"parents":["HP:0002625"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent deep vein blood clot"},{"scope":"EXACT","text":"Recurrent venous thrombosis"}]} +{"alt_ids":[],"definition":"A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate.","id":"HP:0004851","name":"Folate-responsive megaloblastic anemia","obsolete":false,"parents":["HP:0001889"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Folate-responsive megaloblastic anaemia"}]} +{"alt_ids":[],"definition":"Decreased alkaline phosphatase measured within leukocytes.","id":"HP:0004852","name":"Reduced leukocyte alkaline phosphatase","obsolete":false,"parents":["HP:0003282"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low leukocyte alkaline phosphatase"},{"scope":"EXACT","text":"Reduced leukocyte ALP"}]} +{"alt_ids":[],"definition":"Reduced platelet count that occurs sporadically, i.e., it comes and goes.","id":"HP:0004854","name":"Intermittent thrombocytopenia","obsolete":false,"parents":["HP:0001873"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C.","id":"HP:0004855","name":"Reduced protein S activity","obsolete":false,"parents":["HP:0030780"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Protein S deficiency"}]} +{"alt_ids":[],"definition":"A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.","id":"HP:0004856","name":"Normochromic microcytic anemia","obsolete":false,"parents":["HP:0001935"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Normochromic microcytic anaemia"}]} +{"alt_ids":[],"definition":"A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of hemoglobin.","id":"HP:0004857","name":"Hyperchromic macrocytic anemia","obsolete":false,"parents":["HP:0001972"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperchromic macrocytic anaemia"}]} +{"alt_ids":[],"definition":"Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.","id":"HP:0004859","name":"Amegakaryocytic thrombocytopenia","obsolete":false,"parents":["HP:0001873"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine.","id":"HP:0004860","name":"Thiamine-responsive megaloblastic anemia","obsolete":false,"parents":["HP:0001889"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thiamine-responsive megaloblastic anaemia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004861","name":"Refractory macrocytic anemia","obsolete":false,"parents":["HP:0001972"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Refractory macrocytic anaemia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004863","name":"Compensated hemolytic anemia","obsolete":false,"parents":["HP:0001878"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Compensated hemolytic anaemia"}]} +{"alt_ids":[],"definition":"Count of ring sideroblasts in the bone marrow above the upper limit of normal. Ring sideroblasts are nucleated erythroblasts with a pathologic accumulation of iron granules in the mitochondrial matrix. They can be detected by Prussian blue staining as blue perinuclear aggregates in bone marrow aspirate erythroblasts.","id":"HP:0004864","name":"Elevated bone marrow ring sideroblast count","obsolete":false,"parents":["HP:0012130"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Refractory sideroblastic anaemia"}]} +{"alt_ids":[],"definition":"Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.","id":"HP:0004866","name":"Impaired ADP-induced platelet aggregation","obsolete":false,"parents":["HP:0003540"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004815"],"definition":"An chronic form of hemolytic anemia.","id":"HP:0004870","name":"Chronic hemolytic anemia","obsolete":false,"parents":["HP:0001878"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic hemolytic anaemia"},{"scope":"EXACT","text":"hemolytic anemia, chronic"}]} +{"alt_ids":[],"definition":"The presence of a fistula between the bowel and the perineum.","id":"HP:0004871","name":"Perineal fistula","obsolete":false,"parents":["HP:0100589"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound.","id":"HP:0004872","name":"Incisional hernia","obsolete":false,"parents":["HP:0004299"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent abdominal hernia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004875","name":"Neonatal inspiratory stridor","obsolete":false,"parents":["HP:0002643","HP:0005348"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pneumothorax occurring neonatally without traumatic injury to the chest or lung.","id":"HP:0004876","name":"Spontaneous neonatal pneumothorax","obsolete":false,"parents":["HP:0002108"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neonatal pneumothorax"}]} +{"alt_ids":[],"definition":"Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall.","id":"HP:0004878","name":"Intercostal muscle weakness","obsolete":false,"parents":["HP:0001324","HP:0002093"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Dependence on diaphragmatic breathing"},{"scope":"EXACT","text":"Muscle weakness between ribs"}]} +{"alt_ids":[],"definition":"Episodic hyperventilation.","id":"HP:0004879","name":"Intermittent hyperventilation","obsolete":false,"parents":["HP:0002883"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Episodic hyperventilation"},{"scope":"EXACT","text":"Intermittent overbreathing"}]} +{"alt_ids":[],"definition":"Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections.","id":"HP:0004880","name":"Respiratory infections in early life","obsolete":false,"parents":["HP:0002205"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004881","name":"Episodic hypoventilation","obsolete":false,"parents":["HP:0002791"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Episodic slow breathing"},{"scope":"EXACT","text":"Episodic under breathing"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004885","name":"Episodic respiratory distress","obsolete":false,"parents":["HP:0002098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Episodic difficulty breathing"},{"scope":"EXACT","text":"respiratory distress, episodic"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004886","name":"Congenital laryngeal stridor","obsolete":false,"parents":["HP:0005348"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004883"],"definition":"A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation.","id":"HP:0004887","name":"Respiratory failure requiring assisted ventilation","obsolete":false,"parents":["HP:0002093"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Respiratory distress necessitating mechanical ventilation"},{"scope":"EXACT","text":"Respiratory distress requiring endotracheal intubation"},{"scope":"EXACT","text":"Respiratory distress requiring mechanical ventilation"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004889","name":"Intermittent episodes of respiratory insufficiency due to muscle weakness","obsolete":false,"parents":["HP:0002747"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004958"],"definition":"An abnormally elevated blood pressure in the circulation of the pulmonary artery.","id":"HP:0004890","name":"Elevated pulmonary artery pressure","obsolete":false,"parents":["HP:0030875"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated lung artery pressure"},{"scope":"EXACT","text":"increased pulmonary artery pressure"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration.","id":"HP:0004891","name":"Recurrent infections due to aspiration","obsolete":false,"parents":["HP:0002205"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004894","name":"Laryngotracheal stenosis","obsolete":false,"parents":["HP:0001602","HP:0002777"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of lactic acidemia that occurs in relation to stress or infection.","id":"HP:0004897","name":"Stress/infection-induced lactic acidosis","obsolete":false,"parents":["HP:0003128"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Metabolic crises during febrile infections"}]} +{"alt_ids":[],"definition":"A continuous form of lactic acidemia.","id":"HP:0004898","name":"Persistent lactic acidosis","obsolete":false,"parents":["HP:0003128"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A severe form of lactic acidemia.","id":"HP:0004900","name":"Severe lactic acidosis","obsolete":false,"parents":["HP:0003128"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of lactic acidemia that occurs following exercise or exertion.","id":"HP:0004901","name":"Exercise-induced lactic acidemia","obsolete":false,"parents":["HP:0003128"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Exercise-induced lactic acidosis"}]} +{"alt_ids":[],"definition":"A form of lactic acidemia with congenital onset.","id":"HP:0004902","name":"Congenital lactic acidosis","obsolete":false,"parents":["HP:0003128"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistance, and lack of evidence of autoimmune destruction of the beta cells.","id":"HP:0004904","name":"Maturity-onset diabetes of the young","obsolete":false,"parents":["HP:0000819"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"MODY"},{"scope":"EXACT","text":"Maturity onset diabetes of the young"}]} +{"alt_ids":[],"definition":"Concentration of vitamin A below the lower limit of normal in the blood circulation.","id":"HP:0004905","name":"Reduced circulating vitamin A concentration","obsolete":false,"parents":["HP:0008372"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low levels of vitamin A"},{"scope":"EXACT","text":"Vitamin A deficiency"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004906","name":"Hypernatremic dehydration","obsolete":false,"parents":["HP:0001986"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004909","name":"Hypokalemic hypochloremic metabolic alkalosis","obsolete":false,"parents":["HP:0001960","HP:0005977"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004910","name":"Bicarbonate-wasting renal tubular acidosis","obsolete":false,"parents":["HP:0001947"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"HCO3-wasting renal tubular acidosis"},{"scope":"EXACT","text":"Renal bicarbonate wasting"}]} +{"alt_ids":["HP:0005963"],"definition":"Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids.","id":"HP:0004911","name":"Episodic metabolic acidosis","obsolete":false,"parents":["HP:0001942"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent episodes of acidosis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004912","name":"Hypophosphatemic rickets","obsolete":false,"parents":["HP:0002748"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An intermittent (discontinuous) form of lactic acidemia.","id":"HP:0004913","name":"Intermittent lactic acidemia","obsolete":false,"parents":["HP:0003128"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004917"],"definition":"Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period.","id":"HP:0004914","name":"Recurrent infantile hypoglycemia","obsolete":false,"parents":["HP:0001988"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Episodic infantile hypoglycemia"},{"scope":"EXACT","text":"Recurrent low blood sugar in infant"}]} +{"alt_ids":[],"definition":"An impairment of galactose metabolism.","id":"HP:0004915","name":"Impairment of galactose metabolism","obsolete":false,"parents":["HP:0032245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Impaired galactose metabolism"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004916","name":"Generalized distal tubular acidosis","obsolete":false,"parents":["HP:0008341"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised distal tubular acidosis"}]} +{"alt_ids":[],"definition":"A form of metabolic acidosis with increased serum chloride levels.","id":"HP:0004918","name":"Hyperchloremic metabolic acidosis","obsolete":false,"parents":["HP:0001942","HP:0001995"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Non-gap acidosis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004919","name":"Galactose intolerance","obsolete":false,"parents":["HP:0004915"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004920","name":"Phenylpyruvic acidemia","obsolete":false,"parents":["HP:0032368"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008274"],"definition":"Any deviation from the normal concentration of magnesium in the blood circulation.","id":"HP:0004921","name":"Abnormal circulating magnesium concentration","obsolete":false,"parents":["HP:0010927"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal Mg concentration"},{"scope":"EXACT","text":"Abnormal magnesium concentration"},{"scope":"RELATED","text":"Abnormal magnesium metabolism"},{"scope":"EXACT","text":"Abnormal magnesium(2+) level"},{"scope":"EXACT","text":"Abnormality of magnesium homeostasis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004922","name":"Atypical hyperphenylalaninemia","obsolete":false,"parents":["HP:0010893"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of L-phenylalanine in the blood circulation is above the upper limit of normal.","id":"HP:0004923","name":"Hyperphenylalaninemia","obsolete":false,"parents":["HP:0010893"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated phenylalanine concentration"},{"scope":"EXACT","text":"Elevated phenylalanine level"},{"scope":"EXACT","text":"Elevated phenylalanine level in blood"},{"scope":"EXACT","text":"Increased phenylalanine concentration"},{"scope":"EXACT","text":"Increased phenylalanine level"},{"scope":"EXACT","text":"Increased phenylalanine level in blood"}]} +{"alt_ids":[],"definition":"An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.","id":"HP:0004924","name":"Abnormal oral glucose tolerance","obsolete":false,"parents":["HP:0040270"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal glucose oral tolerance test"}]} +{"alt_ids":["HP:0004899"],"definition":"A chronic form of lactic acidemia.","id":"HP:0004925","name":"Chronic lactic acidosis","obsolete":false,"parents":["HP:0003128","HP:0012468"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004926","name":"Orthostatic hypotension due to autonomic dysfunction","obsolete":false,"parents":["HP:0001278"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal widening of the diameter of the pulmonary artery.","id":"HP:0004927","name":"Pulmonary artery dilatation","obsolete":false,"parents":["HP:0030966"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004928","name":"obsolete Peripheral arterial stenosis","obsolete":true,"parents":[],"replaced_by":["HP:0004950"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004929","name":"obsolete Coronary atherosclerosis","obsolete":true,"parents":[],"replaced_by":["HP:0001677"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004930","name":"Abnormality of the pulmonary vasculature","obsolete":false,"parents":["HP:0002088","HP:0002597"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the lung blood vessels"}]} +{"alt_ids":[],"definition":"Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain.","id":"HP:0004931","name":"Arteriosclerosis of small cerebral arteries","obsolete":false,"parents":["HP:0002634","HP:0009145"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Hardened artery wall in small cerebral arteries"}]} +{"alt_ids":[],"definition":"A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.","id":"HP:0004933","name":"Ascending aortic dissection","obsolete":false,"parents":["HP:0002647","HP:0031784"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Type A aortic dissection"}]} +{"alt_ids":[],"definition":"Abnormal calcification of the vasculature.","id":"HP:0004934","name":"Vascular calcification","obsolete":false,"parents":["HP:0011915","HP:0033353"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.","id":"HP:0004935","name":"Pulmonary artery atresia","obsolete":false,"parents":["HP:0030966"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atresia of the pulmonary artery"},{"scope":"EXACT","text":"Pulmonary atresia"}]} +{"alt_ids":[],"definition":"Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.","id":"HP:0004936","name":"Venous thrombosis","obsolete":false,"parents":["HP:0001977"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blood clot in vein"}]} +{"alt_ids":[],"definition":"An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery.","id":"HP:0004937","name":"Pulmonary artery aneurysm","obsolete":false,"parents":["HP:0004927"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excessive bending, twisting, and winding of a cerebral artery.","id":"HP:0004938","name":"Tortuous cerebral arteries","obsolete":false,"parents":["HP:0005116","HP:0009145"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Twisted cerebral arteries"}]} +{"alt_ids":["HP:0004967"],"definition":"Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body.","id":"HP:0004940","name":"Generalized arterial calcification","obsolete":false,"parents":["HP:0003207"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised arterial calcification"}]} +{"alt_ids":[],"definition":"Increased pressure in the pre-hepatic portal vein.","id":"HP:0004941","name":"Extrahepatic portal hypertension","obsolete":false,"parents":["HP:0001409"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001724"],"definition":"Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.","id":"HP:0004942","name":"Aortic aneurysm","obsolete":false,"parents":["HP:0001679","HP:0002617"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Aortic dilatation"},{"scope":"EXACT","text":"Bulge in wall of large artery that carries blood away from heart"},{"scope":"BROAD","text":"Enlarged aorta"}]} +{"alt_ids":[],"definition":"Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors.","id":"HP:0004943","name":"Accelerated atherosclerosis","obsolete":false,"parents":["HP:0002621"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Accelerated plaque build-up in arteries"}]} +{"alt_ids":["HP:0002618","HP:0006816"],"definition":"The presence of a localized dilatation or ballooning of a cerebral artery.","id":"HP:0004944","name":"Dilatation of the cerebral artery","obsolete":false,"parents":["HP:0002617","HP:0009145"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Brain aneurysm"},{"scope":"NARROW","text":"Cerebral aneurysm"},{"scope":"NARROW","text":"Cerebral artery aneurysm"},{"scope":"BROAD","text":"Intracranial aneurysm"}]} +{"alt_ids":[],"definition":"A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall.","id":"HP:0004945","name":"Extracranial internal carotid artery dissection","obsolete":false,"parents":["HP:0005294","HP:0012159"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004946"],"definition":"An abnormal connection between an artery and vein.","id":"HP:0004947","name":"Arteriovenous fistula","obsolete":false,"parents":["HP:0100026"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Arteriovenous fistulas"}]} +{"alt_ids":[],"definition":"Abnormal twisting of arteries or veins.","id":"HP:0004948","name":"Vascular tortuosity","obsolete":false,"parents":["HP:0033353"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Twisted blood vessels"}]} +{"alt_ids":["HP:0004928","HP:0004973","HP:0005296","HP:0005299","HP:0005309","HP:0005315","HP:0005794"],"definition":"Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication.","id":"HP:0004950","name":"Peripheral arterial stenosis","obsolete":false,"parents":["HP:0100545"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Arterial disease of legs"},{"scope":"RELATED","text":"Occlusive arterial disease"},{"scope":"RELATED","text":"Occlusive vascular disease"},{"scope":"EXACT","text":"Peripheral artery disease"},{"scope":"RELATED","text":"Peripheral artery occlusive disease"},{"scope":"RELATED","text":"Peripheral vascular disease"}]} +{"alt_ids":[],"definition":"A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed.","id":"HP:0004952","name":"Pulmonary arteriovenous fistulas","obsolete":false,"parents":["HP:0004947"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004953","name":"obsolete Dilatation of abdominal aorta","obsolete":true,"parents":[],"replaced_by":["HP:0005112"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004954","name":"obsolete Dilatation of the descending aorta","obsolete":true,"parents":[],"replaced_by":["HP:0004959"],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries.","id":"HP:0004955","name":"Generalized arterial tortuosity","obsolete":false,"parents":["HP:0005116"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Arterial tortuosity, general"},{"scope":"RELATED","text":"Arterial tortuosity, generalised"},{"scope":"RELATED","text":"Arterial tortuosity, generalized"},{"scope":"EXACT","text":"Generalised arterial tortuosity"},{"scope":"EXACT","text":"Generalised twisted arteries"},{"scope":"EXACT","text":"Generalized twisted arteries"}]} +{"alt_ids":["HP:0004954"],"definition":"An abnormal localized widening (dilatation) of the descending thoracic aorta.","id":"HP:0004959","name":"Descending thoracic aorta aneurysm","obsolete":false,"parents":["HP:0012727"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Dilatation of the descending thoracic aorta"}]} +{"alt_ids":[],"definition":"A congenital defect with aplasia (absence) of one of the right or left pulmonary artery.","id":"HP:0004960","name":"Absent pulmonary artery","obsolete":false,"parents":["HP:0030966"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent lung artery"},{"scope":"EXACT","text":"Missing pulmonary artery"}]} +{"alt_ids":[],"definition":"An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum.","id":"HP:0004961","name":"Pulmonary artery sling","obsolete":false,"parents":["HP:0030966"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta.","id":"HP:0004962","name":"Thoracic aorta calcification","obsolete":false,"parents":["HP:0004963"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Calcification, that is, pathological deposition of calcium salts in the aorta.","id":"HP:0004963","name":"Calcification of the aorta","obsolete":false,"parents":["HP:0001679","HP:0003207"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004939"],"definition":"Increase in mass of the tunica media of the arteries in the pulmonary circulation.","id":"HP:0004964","name":"Pulmonary arterial medial hypertrophy","obsolete":false,"parents":["HP:0030966"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypertrophy of the pulmonary artery wall"}]} +{"alt_ids":[],"definition":"Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries.","id":"HP:0004966","name":"Medial calcification of large arteries","obsolete":false,"parents":["HP:0012456"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Recurrent bleeding into the parenchyma of the brain.","id":"HP:0004968","name":"Recurrent cerebral hemorrhage","obsolete":false,"parents":["HP:0001342"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent cerebral haemorrhage"},{"scope":"EXACT","text":"Recurrent hemorrhagic stroke"}]} +{"alt_ids":["HP:0004957"],"definition":"Stenosis of a peripheral branch of the pulmonary artery.","id":"HP:0004969","name":"Peripheral pulmonary artery stenosis","obsolete":false,"parents":["HP:0004415"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrowing of peripheral lung artery"},{"scope":"RELATED","text":"Occlusion of small pulmonary arteries"},{"scope":"EXACT","text":"Peripheral pulmonic stenosis"},{"scope":"EXACT","text":"peripheral pulmonary stenosis"}]} +{"alt_ids":["HP:0005111","HP:0005128"],"definition":"An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.","id":"HP:0004970","name":"Ascending tubular aorta aneurysm","obsolete":false,"parents":["HP:0012727"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aneurysm of the ascending tubular aorta"},{"scope":"BROAD","text":"Ascending aorta dilation"},{"scope":"EXACT","text":"Ascending aortic aneurysm"},{"scope":"EXACT","text":"Ascending aortic dilation"},{"scope":"EXACT","text":"Bulging of wall of large artery located above heart"},{"scope":"EXACT","text":"Dilatation of ascending aorta"}]} +{"alt_ids":[],"definition":"Underdevelopment of the pulmonary artery.","id":"HP:0004971","name":"Pulmonary artery hypoplasia","obsolete":false,"parents":["HP:0030966"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Underdeveloped lung artery"},{"scope":"EXACT","text":"Underdeveloped pulmonary artery"}]} +{"alt_ids":[],"definition":"An abnormal increase in the average blood pressure in an individual during a single cardiac cycle.","id":"HP:0004972","name":"Elevated mean arterial pressure","obsolete":false,"parents":["HP:0032263"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta.","id":"HP:0004974","name":"Coarctation of abdominal aorta","obsolete":false,"parents":["HP:0001680"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006422"],"definition":"Flaring of distal femur.","id":"HP:0004975","name":"Erlenmeyer flask deformity of the femurs","obsolete":false,"parents":["HP:0002823"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Erlenmeyer flask deformity of distal femur"},{"scope":"EXACT","text":"Erlenmeyer flask femora"},{"scope":"EXACT","text":"Erlenmeyer flask shaped thighbone"}]} +{"alt_ids":["HP:0006469"],"definition":null,"id":"HP:0004976","name":"Knee dislocation","obsolete":false,"parents":["HP:0030311","HP:0034670"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dislocations of the knees"},{"scope":"EXACT","text":"Knee dislocations"}]} +{"alt_ids":["HP:0005870"],"definition":"Missing radius bone on both sides associated with congenital failure of development.","id":"HP:0004977","name":"Bilateral radial aplasia","obsolete":false,"parents":["HP:0003974"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bilateral absence of radius"}]} +{"alt_ids":[],"definition":"Abnormally increased density of metaphyseal bone.","id":"HP:0004979","name":"Metaphyseal sclerosis","obsolete":false,"parents":["HP:0000944"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in wide portion of long bone"},{"scope":"EXACT","text":"Sclerotic metaphyses"}]} +{"alt_ids":[],"definition":"Reduction in density of metaphyseal bony tissue.","id":"HP:0004980","name":"Metaphyseal rarefaction","obsolete":false,"parents":["HP:0000944"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rarefaction of the metaphyses"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004981","name":"Prominent styloid process of ulna","obsolete":false,"parents":["HP:0004035"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0004986","name":"obsolete Rudimentary to absent fibulae","obsolete":true,"parents":[],"replaced_by":["HP:0006381"],"synonyms":[]} +{"alt_ids":[],"definition":"Shortening of the middle parts of the leg in relation to the upper and terminal segments.","id":"HP:0004987","name":"Mesomelic leg shortening","obsolete":false,"parents":["HP:0003027"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mesomelia of the lower limbs"},{"scope":"EXACT","text":"Mesomelic lower limb shortening"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004990","name":"Epiphyseal streaking","obsolete":false,"parents":["HP:0005930"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).","id":"HP:0004991","name":"Rhizomelic arm shortening","obsolete":false,"parents":["HP:0008905"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones.","id":"HP:0004993","name":"Slender long bones with narrow diaphyses","obsolete":false,"parents":["HP:0000940","HP:0003100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Slender long bones with narrow shaft"}]} +{"alt_ids":[],"definition":null,"id":"HP:0004997","name":"Multicentric ossification of proximal humeral epiphyses","obsolete":false,"parents":["HP:0003897"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Patellar dislocation occurring repeated times.","id":"HP:0005001","name":"Recurrent patellar dislocation","obsolete":false,"parents":["HP:0002999","HP:0031869"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent dislocation of patellas"}]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the proximal epiphysis of the femur.","id":"HP:0005003","name":"Aplasia/Hypoplasia of the capital femoral epiphysis","obsolete":false,"parents":["HP:0010574","HP:0010577"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small end part of innermost thighbone"},{"scope":"EXACT","text":"Absent/underdeveloped end part of innermost thighbone"}]} +{"alt_ids":[],"definition":"An abnormally flat form of the proximal epiphysis of the radius.","id":"HP:0005004","name":"Flattened proximal radial epiphyses","obsolete":false,"parents":["HP:0004002","HP:0010597"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Congenital onset bending or abnormal curvature of the femur that normalizes with age.","id":"HP:0005005","name":"Femoral bowing present at birth, straightening with time","obsolete":false,"parents":["HP:0002980"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bowing of thighbone at birth, straightening with time"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005008","name":"Large joint dislocations","obsolete":false,"parents":["HP:0001373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Large joint dislocations"}]} +{"alt_ids":[],"definition":"The humerus is shortened and displays flaring (widening) of the metaphyses.","id":"HP:0005009","name":"Dumbbell-shaped humerus","obsolete":false,"parents":["HP:0000947"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dumbbell-shaped long bone in upper arm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005010","name":"Osteomyelitis leading to amputation due to slow healing fractures","obsolete":false,"parents":["HP:0002754"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005024","HP:0006455"],"definition":"Shortening of the middle parts of the arm in relation to the upper and terminal segments.","id":"HP:0005011","name":"Mesomelic arm shortening","obsolete":false,"parents":["HP:0003027"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mesomelia of the upper limbs"},{"scope":"EXACT","text":"Upper limb brachymesomelia"}]} +{"alt_ids":[],"definition":"Abnormally developed (dysplastic) distal epiphysis of the radius.","id":"HP:0005013","name":"Dysplastic distal radial epiphyses","obsolete":false,"parents":["HP:0010597"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005017","name":"Polyarticular chondrocalcinosis","obsolete":false,"parents":["HP:0000934"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Tubulation refers to the size and shape of tubular bones. In children and adolescents, the modeling process regulates normal bone growth. Final shaft (tube) diameter depends on appositional bone growth and the equilibrium between periosteal and endosteal bone resorption and formation. Undertubulation refers to a broad, widened form of the shafts (diaphyses) of long bones.","id":"HP:0005019","name":"Diaphyseal undertubulation","obsolete":false,"parents":["HP:0000940"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Diaphyseal widening"},{"scope":"EXACT","text":"Thickening of shaft or central part of long bones"},{"scope":"EXACT","text":"Undertubulated long bones"},{"scope":"EXACT","text":"Undertubulation of diaphyses"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005021","name":"Bilateral elbow dislocations","obsolete":false,"parents":["HP:0003042"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dislocated elbows on both sides"}]} +{"alt_ids":[],"definition":"Underdevelopment of the distal portion of the humerus.","id":"HP:0005025","name":"Hypoplastic distal humeri","obsolete":false,"parents":["HP:0006507"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005026","name":"Mesomelic/rhizomelic limb shortening","obsolete":false,"parents":["HP:0008905"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005028","name":"Widened proximal tibial metaphyses","obsolete":false,"parents":["HP:0003016"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide innermost wide portion of shankbone bone"},{"scope":"EXACT","text":"Wide innermost wide portion of shinbone bone"}]} +{"alt_ids":["HP:0006474"],"definition":"Underdevelopment of the distal portion of the ulna.","id":"HP:0005033","name":"Distal ulnar hypoplasia","obsolete":false,"parents":["HP:0003022"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Distal shortening of ulna"},{"scope":"EXACT","text":"Hypoplastic distal ulna"}]} +{"alt_ids":[],"definition":"Developmental hypoplasia (shortening) of all phalanges of the foot.","id":"HP:0005035","name":"Shortening of all phalanges of the toes","obsolete":false,"parents":["HP:0001831","HP:0010161"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short toe bones"}]} +{"alt_ids":[],"definition":"Underdevelopment of the ulna on only one side.","id":"HP:0005036","name":"Unilateral ulnar hypoplasia","obsolete":false,"parents":["HP:0003022"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna.","id":"HP:0005037","name":"Proximal radio-ulnar synostosis","obsolete":false,"parents":["HP:0002974"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Multiple exostoses originating in long bones.","id":"HP:0005039","name":"Multiple long-bone exostoses","obsolete":false,"parents":["HP:0002762"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multiple exostoses of long tubular bones"}]} +{"alt_ids":["HP:0008806"],"definition":"Irregular surface of the normally relatively smooth capital femoral epiphysis.","id":"HP:0005041","name":"Irregular capital femoral epiphysis","obsolete":false,"parents":["HP:0006361","HP:0010574"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Irregular capital femoral epiphyses"},{"scope":"EXACT","text":"Irregular end part of innermost thighbone"},{"scope":"EXACT","text":"Irregular proximal femoral epiphyses"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005042","name":"Irregular, rachitic-like metaphyses","obsolete":false,"parents":["HP:0003025"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder).","id":"HP:0005043","name":"Proximal humeral metaphyseal irregularity","obsolete":false,"parents":["HP:0003913"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular proximal humeral metaphyses"}]} +{"alt_ids":[],"definition":"An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:0005045","name":"Diaphyseal cortical sclerosis","obsolete":false,"parents":["HP:0003034"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005048","name":"Synostosis of carpal bones","obsolete":false,"parents":["HP:0009702"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fusion of wrist bones"}]} +{"alt_ids":[],"definition":"A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction.","id":"HP:0005050","name":"Anterolateral radial head dislocation","obsolete":false,"parents":["HP:0003083"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anterior/lateral radial head dislocation"}]} +{"alt_ids":["HP:0005088"],"definition":"Bony outgrowths that extend laterally from the margin of the metaphysis.","id":"HP:0005054","name":"Metaphyseal spurs","obsolete":false,"parents":["HP:0000944"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005059","name":"Arthralgia/arthritis","obsolete":false,"parents":["HP:0001369","HP:0002829"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Joint pain/Joint inflammation"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005060","name":"Limited elbow flexion/extension","obsolete":false,"parents":["HP:0001377","HP:0006376"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005063","name":"Fragmented, irregular epiphyses","obsolete":false,"parents":["HP:0010582","HP:0100168"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmented, irregular end part of bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005066","name":"Cone-shaped epiphyses fused within their metaphyses","obsolete":false,"parents":["HP:0010579"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of long bone fused within their wide portion of wide bone"}]} +{"alt_ids":[],"definition":"Overgrowth of the proximal part of the fibula.","id":"HP:0005067","name":"Proximal fibular overgrowth","obsolete":false,"parents":["HP:0003099"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Overgrowth of innermost part of calf bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005068","name":"Absent styloid process of ulna","obsolete":false,"parents":["HP:0004035"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005069","name":"Rhizo-meso-acromelic limb shortening","obsolete":false,"parents":["HP:0008905"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction.","id":"HP:0005070","name":"Proximal radial head dislocation","obsolete":false,"parents":["HP:0003083"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The ability of the wrist joints to move beyond their normal range of motion.","id":"HP:0005072","name":"Wrist 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+{"alt_ids":["HP:0006360"],"definition":"An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone.","id":"HP:0005089","name":"Abnormal metaphyseal trabeculation","obsolete":false,"parents":["HP:0000944"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005022"],"definition":"A lateral bending or abnormal curvature of the femur.","id":"HP:0005090","name":"Lateral femoral bowing","obsolete":false,"parents":["HP:0002980"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of streaks (bands) of abnormally increased density of metaphyseal bone.","id":"HP:0005092","name":"Streaky metaphyseal sclerosis","obsolete":false,"parents":["HP:0004979"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Streak increase in bone density in wide portion of wide bone"}]} +{"alt_ids":[],"definition":"Absence of the proximal radial epiphysis.","id":"HP:0005093","name":"Absent proximal radial epiphyses","obsolete":false,"parents":["HP:0010577","HP:0010596"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A bending or abnormal curvature of the distal portion of the femur.","id":"HP:0005096","name":"Distal femoral bowing","obsolete":false,"parents":["HP:0002980"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005099","name":"obsolete Severe hydrops fetalis","obsolete":true,"parents":[],"replaced_by":["HP:0001789"],"synonyms":[{"scope":"EXACT","text":"Severe hydrops"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005100","name":"Premature birth following premature rupture of fetal membranes","obsolete":false,"parents":["HP:0001622","HP:0001788"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Premature birth following premature rupture of foetal membranes"}]} +{"alt_ids":["HP:0008522","HP:0008584","HP:0008597"],"definition":"A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).","id":"HP:0005101","name":"High-frequency hearing impairment","obsolete":false,"parents":["HP:0000365"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hearing loss, high-frequency"},{"scope":"EXACT","text":"High frequency hearing loss"},{"scope":"EXACT","text":"High-frequency deafness"},{"scope":"EXACT","text":"Progressive high frequency hearing loss"},{"scope":"EXACT","text":"Progressive high-frequency hearing loss"}]} +{"alt_ids":["HP:0008156"],"definition":"Deterioration or loss of the tissues of the cochlea.","id":"HP:0005102","name":"Cochlear degeneration","obsolete":false,"parents":["HP:0000375"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Progressive cochlear degeneration"}]} +{"alt_ids":["HP:0008549"],"definition":"Ossification affecting the external ear cartilage.","id":"HP:0005103","name":"Calcification of the auricular cartilage","obsolete":false,"parents":["HP:0000377","HP:0100593"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cartilaginous ossification of pinnae"},{"scope":"RELATED","text":"Ear cartilage calcification"},{"scope":"EXACT","text":"Ossification of pinnae"},{"scope":"EXACT","text":"Petrified ear"}]} +{"alt_ids":[],"definition":"Underdevelopment of the nasal septum.","id":"HP:0005104","name":"Hypoplastic nasal septum","obsolete":false,"parents":["HP:0009935"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased size of nasal septum"},{"scope":"EXACT","text":"Decreased size of septum of nose"},{"scope":"EXACT","text":"Hypoplasia of septum of nose"},{"scope":"EXACT","text":"Small nasal septum"},{"scope":"EXACT","text":"Small septum of nose"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005105","name":"Abnormal nasal morphology","obsolete":false,"parents":["HP:0000366"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal nose morphology"},{"scope":"EXACT","text":"Abnormal of morphology of nose"},{"scope":"EXACT","text":"Abnormal of nasal shape"},{"scope":"EXACT","text":"Abnormal of shape of nose"}]} +{"alt_ids":[],"definition":"Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral disks.","id":"HP:0005106","name":"Abnormality of the vertebral endplates","obsolete":false,"parents":["HP:0003312"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the sacral bone.","id":"HP:0005107","name":"Abnormal sacrum morphology","obsolete":false,"parents":["HP:0000925"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the sacrum"}]} +{"alt_ids":[],"definition":"Any structural abnormality of the intervertebral disk.","id":"HP:0005108","name":"Abnormal intervertebral disk morphology","obsolete":false,"parents":["HP:0000925"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the intervertebral disc"},{"scope":"EXACT","text":"Abnormality of the intervertebral disk"}]} +{"alt_ids":[],"definition":"An abnormality of the Achilles tendon.","id":"HP:0005109","name":"Abnormal Achilles tendon morphology","obsolete":false,"parents":["HP:0001760","HP:0100261"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the Achilles tendon"},{"scope":"EXACT","text":"Abnormality of the calcaneal tendon"}]} +{"alt_ids":["HP:0001715","HP:0005179"],"definition":"An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.","id":"HP:0005110","name":"Atrial fibrillation","obsolete":false,"parents":["HP:0001692"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Quivering upper heart chambers resulting in irregular heartbeat"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005111","name":"obsolete Dilatation of the ascending aorta","obsolete":true,"parents":[],"replaced_by":["HP:0004970"],"synonyms":[]} +{"alt_ids":["HP:0004953"],"definition":"An abnormal localized widening (dilatation) of the abdominal aorta.","id":"HP:0005112","name":"Abdominal aortic aneurysm","obsolete":false,"parents":["HP:0004942"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Dilatation of the abdominal aorta"}]} +{"alt_ids":["HP:0004965"],"definition":"An abnormal localized widening (dilatation) of the aortic arch.","id":"HP:0005113","name":"Aortic arch aneurysm","obsolete":false,"parents":["HP:0012727"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Aortic arch dilatation"},{"scope":"BROAD","text":"Dilatation of the aortic arch"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005114","name":"obsolete Abnormalities of the peripheral arteries","obsolete":true,"parents":[],"replaced_by":["HP:0011004"],"synonyms":[]} +{"alt_ids":[],"definition":"A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm.","id":"HP:0005115","name":"Supraventricular arrhythmia","obsolete":false,"parents":["HP:0011675"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Supraventricular arrhythmias"}]} +{"alt_ids":[],"definition":"Abnormal tortuous (i.e., twisted) form of arteries.","id":"HP:0005116","name":"Arterial tortuosity","obsolete":false,"parents":["HP:0004948","HP:0011004"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase in diastolic blood pressure.","id":"HP:0005117","name":"Elevated diastolic blood pressure","obsolete":false,"parents":["HP:0032263"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated diastolic BP"}]} +{"alt_ids":[],"definition":"Any structural abnormality of a cardiac atrium.","id":"HP:0005120","name":"Abnormal cardiac atrium morphology","obsolete":false,"parents":["HP:0001627"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of cardiac atrium morphology"},{"scope":"EXACT","text":"Abnormality of heart atrium"}]} +{"alt_ids":["HP:0004572","HP:0004579"],"definition":"An excessive concavity of the posterior surface of one or more vertebral bodies.","id":"HP:0005121","name":"Posterior scalloping of vertebral bodies","obsolete":false,"parents":["HP:0004586"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Posterior vertebral body scalloping"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005129","name":"Congenital hypertrophy of left ventricle","obsolete":false,"parents":["HP:0001712"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005130","name":"obsolete Restrictive heart failure","obsolete":true,"parents":[],"replaced_by":["HP:0001723"],"synonyms":[]} +{"alt_ids":[],"definition":"Compression of the heart caused by rigid, thickened, or fused pericardial membranes.","id":"HP:0005132","name":"Pericardial constriction","obsolete":false,"parents":["HP:0001697"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Enlargement of the chamber of the right ventricle, which can be defined echocardiographically as a right ventricular to left ventricular ratio greater than 1:1.","id":"HP:0005133","name":"Right ventricular dilatation","obsolete":false,"parents":["HP:0001707"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dilated heart right ventricle"}]} +{"alt_ids":["HP:0005131"],"definition":"Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries.","id":"HP:0005134","name":"Absence of the pulmonary valve","obsolete":false,"parents":["HP:0001641"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent pulmonary valve"}]} +{"alt_ids":[],"definition":"An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles.","id":"HP:0005135","name":"Abnormal T-wave","obsolete":false,"parents":["HP:0003115"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EKG: T-wave abnormalities"},{"scope":"EXACT","text":"T-wave abnormalities"}]} +{"alt_ids":[],"definition":"Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus.","id":"HP:0005136","name":"Mitral annular calcification","obsolete":false,"parents":["HP:0004382"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Premature calcification of mitral annulus"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005141","name":"obsolete Episodes of ventricular tachycardia","obsolete":true,"parents":[],"replaced_by":["HP:0004751"],"synonyms":[]} +{"alt_ids":[],"definition":"The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.","id":"HP:0005143","name":"Anomalous origin of right pulmonary artery from ascending aorta","obsolete":false,"parents":["HP:0011660"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle.","id":"HP:0005144","name":"Ventricular septal hypertrophy","obsolete":false,"parents":["HP:0010438"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thickened interventricular septum"}]} +{"alt_ids":[],"definition":"Abnormal narrowing of the coronary artery.","id":"HP:0005145","name":"Coronary artery stenosis","obsolete":false,"parents":["HP:0006704"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrowing of coronary artery"}]} +{"alt_ids":[],"definition":"Abnormal calcification of a cardiac valve.","id":"HP:0005146","name":"Cardiac valve calcification","obsolete":false,"parents":["HP:0001654","HP:0011915"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Calcifications of the cardiac valves"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005147","name":"Bidirectional ventricular ectopy","obsolete":false,"parents":["HP:0006682"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any defect in the valve connecting the heart and the pulmonary artery.","id":"HP:0005148","name":"Pulmonary valve defects","obsolete":false,"parents":["HP:0001641"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An impairment of the electrical continuity between the atria and ventricles.","id":"HP:0005150","name":"Abnormal atrioventricular conduction","obsolete":false,"parents":["HP:0031546"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch.","id":"HP:0005151","name":"Preductal coarctation of the aorta","obsolete":false,"parents":["HP:0012305"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Proximal aortic coarctation"}]} +{"alt_ids":[],"definition":"A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells.","id":"HP:0005152","name":"Histiocytoid cardiomyopathy","obsolete":false,"parents":["HP:0001638"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Arachnocytosis of the myocardium"},{"scope":"EXACT","text":"Foamy myocardial transformation"},{"scope":"EXACT","text":"Focal lipid cardiomyopathy"},{"scope":"EXACT","text":"Infantile cardiomyopathy with histiocytoid changes"},{"scope":"EXACT","text":"Infantile xanthomatous cardiomyopathy"},{"scope":"EXACT","text":"Isolated cardiac lipidosis"},{"scope":"EXACT","text":"Myocardial or conduction system hamartoma"},{"scope":"EXACT","text":"Oncocytic cardiomyopathy"}]} +{"alt_ids":[],"definition":"A ventricular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms).","id":"HP:0005155","name":"Ventricular escape rhythm","obsolete":false,"parents":["HP:0004308"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Idioventricular escape rhythm"}]} +{"alt_ids":[],"definition":"Underdeveloped, small left heart atrium","id":"HP:0005156","name":"Hypoplastic left atrium","obsolete":false,"parents":["HP:0025579"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Left atrium hypoplasia"},{"scope":"EXACT","text":"Underdeveloped left heart atrium"}]} +{"alt_ids":["HP:0001672"],"definition":"Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.","id":"HP:0005157","name":"Concentric hypertrophic cardiomyopathy","obsolete":false,"parents":["HP:0001639"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Symmetric, concentric, hypertrophic cardiomyopathy"}]} +{"alt_ids":["HP:0005153","HP:0005175"],"definition":"Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium.","id":"HP:0005160","name":"Total anomalous pulmonary venous return","obsolete":false,"parents":["HP:0010772"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"TAPVC"},{"scope":"EXACT","text":"TAPVD"},{"scope":"EXACT","text":"TAPVR"},{"scope":"EXACT","text":"Total anomalous pulmonary venous connection"},{"scope":"EXACT","text":"Total anomalous pulmonary venous drainage"}]} +{"alt_ids":["HP:0005154"],"definition":"Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.","id":"HP:0005162","name":"Abnormal left ventricular function","obsolete":false,"parents":["HP:0030872"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Impaired left ventricular function"},{"scope":"EXACT","text":"Left ventricular dysfunction"},{"scope":"EXACT","text":"Left ventricular failure"},{"scope":"EXACT","text":"Left ventricular impairment"},{"scope":"EXACT","text":"Left-sided heart failure"}]} +{"alt_ids":[],"definition":"A congenital malformation of the pulmonary valve characterized by leaflet deformation.","id":"HP:0005164","name":"Dysplastic pulmonary valve","obsolete":false,"parents":["HP:0001641"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dysplasia of pulmonary valve"},{"scope":"EXACT","text":"Pulmonary valve dysplasia"}]} +{"alt_ids":[],"definition":"Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long.","id":"HP:0005165","name":"Shortened PR interval","obsolete":false,"parents":["HP:0031593"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Electrocardiographic short PR interval"},{"scope":"EXACT","text":"Short P-R interval"},{"scope":"EXACT","text":"Shortened PR interval on EKG"}]} +{"alt_ids":[],"definition":"An abnormal increase in magnitude of the pressure in the right atrium.","id":"HP:0005168","name":"Elevated right atrial pressure","obsolete":false,"parents":["HP:0025443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex.","id":"HP:0005170","name":"Complete heart block with broad QRS complexes","obsolete":false,"parents":["HP:0001709"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Conduction block in the posterior division of the left bundle branch of the bundle of His.","id":"HP:0005172","name":"Left posterior fascicular block","obsolete":false,"parents":["HP:0011713"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Left posterior hemiblock"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005173","name":"obsolete Calcific aortic valve stenosis","obsolete":true,"parents":[],"replaced_by":["HP:0004380"],"synonyms":[]} +{"alt_ids":[],"definition":"Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency.","id":"HP:0005174","name":"Membranous subvalvular aortic stenosis","obsolete":false,"parents":["HP:0001682"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital malformation of the aortic valve characterized by leaflet deformation.","id":"HP:0005176","name":"Dysplastic aortic valve","obsolete":false,"parents":["HP:0001646"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Arteriosclerosis occurring at an age that is younger than usual.","id":"HP:0005177","name":"Premature arteriosclerosis","obsolete":false,"parents":["HP:0002634"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Premature hardening of arteries"}]} +{"alt_ids":[],"definition":"A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex.","id":"HP:0005178","name":"Complete heart block with narrow QRS complexes","obsolete":false,"parents":["HP:0001709"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004753"],"definition":"Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.","id":"HP:0005180","name":"Tricuspid regurgitation","obsolete":false,"parents":["HP:0031651","HP:0034376"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tricuspid insufficiency"},{"scope":"EXACT","text":"Tricuspid valve regurgitation"}]} +{"alt_ids":[],"definition":"Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.","id":"HP:0005181","name":"Premature coronary artery atherosclerosis","obsolete":false,"parents":["HP:0001677"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Premature coronary artery disease"}]} +{"alt_ids":[],"definition":"The presence of a bicuspid pulmonary valve.","id":"HP:0005182","name":"Bicuspid pulmonary valve","obsolete":false,"parents":["HP:0031566"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal dilatation of lymph vessels in the pericardium.","id":"HP:0005183","name":"Pericardial lymphangiectasia","obsolete":false,"parents":["HP:0001697","HP:0031842"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.","id":"HP:0005184","name":"Prolonged QTc interval","obsolete":false,"parents":["HP:0001657"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly.","id":"HP:0005185","name":"Global systolic dysfunction","obsolete":false,"parents":["HP:0006673"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Synovial hyperplasia involves proliferation of mesenchymal stromal/stem cells and leads to synovial thickening, which can be observed radiographically.","id":"HP:0005186","name":"Synovial lining hyperplasia","obsolete":false,"parents":["HP:0005262"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Synovial hyperplasia"},{"scope":"EXACT","text":"Synovial hypertrophy"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005187","name":"Progressive joint destruction","obsolete":false,"parents":["HP:0001367"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005190","name":"Proximal finger joint hyperextensibility","obsolete":false,"parents":["HP:0001187"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005191","name":"Congenital knee dislocation","obsolete":false,"parents":["HP:0004976"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dislocated knee since birth"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005193","name":"Restricted large joint movement","obsolete":false,"parents":["HP:0001376"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally flat shape of the heads of the metatarsal bones.","id":"HP:0005194","name":"Flattened metatarsal heads","obsolete":false,"parents":["HP:0001832"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flattened head of long bone of foot"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005195","name":"Polyarticular arthropathy","obsolete":false,"parents":["HP:0003040"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A sensation of stiffness in the joints that occurs following waking up in the morning.","id":"HP:0005197","name":"Generalized morning stiffness","obsolete":false,"parents":["HP:0001387"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised morning stiffness"}]} +{"alt_ids":[],"definition":"Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity.","id":"HP:0005198","name":"Stiff interphalangeal joints","obsolete":false,"parents":["HP:0001387"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Stiff hinge joints"}]} +{"alt_ids":[],"definition":"Absence of the abdominal musculature.","id":"HP:0005199","name":"Aplasia of the abdominal wall musculature","obsolete":false,"parents":["HP:0010318"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent abdominal musculature"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005200","name":"Retroperitoneal fibrosis","obsolete":false,"parents":["HP:0002585"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005201","name":"Anomalous splenoportal venous system","obsolete":false,"parents":["HP:0031941"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach.","id":"HP:0005202","name":"Helicobacter pylori infection","obsolete":false,"parents":["HP:0004798"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005251"],"definition":"The occurrence of the full-thickness tear (perforation) of the wall of the esophagus.","id":"HP:0005203","name":"Spontaneous esophageal perforation","obsolete":false,"parents":["HP:0002031"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Boerhaave syndrome"},{"scope":"EXACT","text":"Spontaneous esophageal rupture"}]} +{"alt_ids":[],"definition":"Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis.","id":"HP:0005206","name":"Pancreatic pseudocyst","obsolete":false,"parents":["HP:0012090"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hypertrophy of the stomach.","id":"HP:0005207","name":"Gastric hypertrophy","obsolete":false,"parents":["HP:0002577"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Increased stomach size"}]} +{"alt_ids":[],"definition":"Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.","id":"HP:0005208","name":"Secretory diarrhea","obsolete":false,"parents":["HP:0002014"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Secretory diarrhoea"}]} +{"alt_ids":[],"definition":"The presence of cyst of the intrahepatic bile duct.","id":"HP:0005209","name":"Intrahepatic bile duct cysts","obsolete":false,"parents":["HP:0011040"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of the colon.","id":"HP:0005210","name":"Hypoplastic colon","obsolete":false,"parents":["HP:0100811"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplasia of the colon"},{"scope":"EXACT","text":"Underdeveloped colon"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005211","name":"Midgut malrotation","obsolete":false,"parents":["HP:0002566"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation.","id":"HP:0005212","name":"Anal mucosal leukoplakia","obsolete":false,"parents":["HP:0032186"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of abnormal calcium deposition lesions in the pancreas.","id":"HP:0005213","name":"Pancreatic calcification","obsolete":false,"parents":["HP:0010766","HP:0012090"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pancreatic calcifications"}]} +{"alt_ids":["HP:0005239"],"definition":"Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.","id":"HP:0005214","name":"Intestinal obstruction","obsolete":false,"parents":["HP:0002242","HP:0004796"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bowel obstruction"},{"scope":"EXACT","text":"Intestinal blockage"},{"scope":"EXACT","text":"Intestinal obstruction"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection.","id":"HP:0005215","name":"Frequent Giardia lamblia infestation","obsolete":false,"parents":["HP:0004798"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.","id":"HP:0005216","name":"Impaired mastication","obsolete":false,"parents":["HP:0031815"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chewing difficulties"},{"scope":"EXACT","text":"Chewing difficulty"},{"scope":"EXACT","text":"Difficulty chewing"}]} +{"alt_ids":[],"definition":"A congenital malformation characterized by the development of an additional organ or organ-like structure, i.e., an extra copy of the organ normally located in the abdomen.","id":"HP:0005217","name":"Abdominal organ duplication","obsolete":false,"parents":["HP:0001438"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a fistula (abnormal tunnel) between the anal canal and the perineum.","id":"HP:0005218","name":"Anoperineal fistula","obsolete":false,"parents":["HP:0004871","HP:0010447"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Perianal fistula"}]} +{"alt_ids":[],"definition":"Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12.","id":"HP:0005219","name":"Absence of intrinsic factor","obsolete":false,"parents":["HP:0002577"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intrinsic factor absent from gastric juice"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005220","name":"Multiple intestinal neurofibromatosis","obsolete":false,"parents":["HP:0001067","HP:0002242","HP:0007378"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of multiple diverticula of the intestine.","id":"HP:0005222","name":"Bowel 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colon.","id":"HP:0005227","name":"Adenomatous colonic polyposis","obsolete":false,"parents":["HP:0030255","HP:0100273"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multiple adenomatous colon polyps"},{"scope":"EXACT","text":"Multiple colonic adenomatous polyps"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005229","name":"Jejunoileal ulceration","obsolete":false,"parents":["HP:0001549","HP:0005265","HP:0034274"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Obstruction affecting the biliary tree.","id":"HP:0005230","name":"Biliary tract obstruction","obsolete":false,"parents":["HP:0012440"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A chronic form of gastritis.","id":"HP:0005231","name":"Chronic gastritis","obsolete":false,"parents":["HP:0005263"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of developmental dysplasia of the pancreas.","id":"HP:0005232","name":"Pancreatic 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+{"alt_ids":["HP:0006553"],"definition":"Atresia in the extrahepatic bile duct.","id":"HP:0005242","name":"Extrahepatic biliary duct atresia","obsolete":false,"parents":["HP:0005912","HP:0035013"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Biliary atresia, extrahepatic"}]} +{"alt_ids":[],"definition":"Failure to form of portions of the abdominal musculature.","id":"HP:0005243","name":"Partial abdominal muscle agenesis","obsolete":false,"parents":["HP:0010318"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005244","name":"Gastrointestinal infarctions","obsolete":false,"parents":["HP:0012719"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Death of digestive organ tissue due to poor blood supply"},{"scope":"EXACT","text":"GI infarctions"}]} +{"alt_ids":[],"definition":"Developmental hypoplasia of the intestine.","id":"HP:0005245","name":"Intestinal 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side"},{"scope":"EXACT","text":"Underdeveloped chest on one side"}]} +{"alt_ids":[],"definition":"Aplasia (congenital absence) of the pectoralis minor.","id":"HP:0005255","name":"Absence of pectoralis minor muscle","obsolete":false,"parents":["HP:0011957"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pectoralis minor aplasia"}]} +{"alt_ids":[],"definition":"Aplasia (congenital absence) of the pectoralis minor on only one side of the chest.","id":"HP:0005256","name":"Unilateral absence of pectoralis major muscle","obsolete":false,"parents":["HP:0011957"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unilateral aplasia of pectoralis major muscle"}]} +{"alt_ids":["HP:0001590"],"definition":null,"id":"HP:0005257","name":"Thoracic hypoplasia","obsolete":false,"parents":["HP:0000765"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small chest"},{"scope":"EXACT","text":"Small thorax"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005258","name":"Pectoral muscle hypoplasia/aplasia","obsolete":false,"parents":["HP:0001435"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small/absent pec muscle"},{"scope":"EXACT","text":"Underdeveloped/absent pec muscle"}]} +{"alt_ids":[],"definition":"Increased range of shoulder movement related to aplasia or hypoplasia of the clavicles that results in the ability to approximate the shoulders in front of the chest.","id":"HP:0005259","name":"Abnormal facility in opposing the shoulders","obsolete":false,"parents":["HP:0001547"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001391","HP:0005196"],"definition":"Hemorrhage occurring within a joint.","id":"HP:0005261","name":"Joint hemorrhage","obsolete":false,"parents":["HP:0001367","HP:0011029"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bleeding within a joint"},{"scope":"EXACT","text":"Hemarthroses"},{"scope":"EXACT","text":"Hemarthrosis"},{"scope":"EXACT","text":"Spontaneous joint haemorrhage"},{"scope":"EXACT","text":"Spontaneous joint hemorrhage"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the synovium, which is a membrane that lines the cavity of synovial joints and consists of a lining layer of macrophage-like synoviocytes and fibroblast-like synoviocytes, as well as a sublining of connective tissue. Synovial cells are thought to contribute to joint homeostasis by secreting various factors such as hyaluronic acid and lubricin important for joint lubrication and function, as well as disposing of the waste products.","id":"HP:0005262","name":"Abnormal synovial membrane morphology","obsolete":false,"parents":["HP:0001367"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of inflammation of the gastric mucous membrane.","id":"HP:0005263","name":"Gastritis","obsolete":false,"parents":["HP:0004295"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Stomach inflammation"}]} +{"alt_ids":[],"definition":"An abnormality of the gallbladder.","id":"HP:0005264","name":"Abnormality of the gallbladder","obsolete":false,"parents":["HP:0004297"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the gallbladder"},{"scope":"EXACT","text":"Anomaly of the gallbladder"}]} +{"alt_ids":[],"definition":"An abnormality of the jejunum, i.e., of the middle section of the small intestine.","id":"HP:0005265","name":"Abnormal jejunum morphology","obsolete":false,"parents":["HP:0002244"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the jejunum"}]} +{"alt_ids":[],"definition":"A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.","id":"HP:0005266","name":"Intestinal polyp","obsolete":false,"parents":["HP:0002242","HP:0007378"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intestinal polyps"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005267","name":"Premature delivery because of cervical insufficiency or membrane fragility","obsolete":false,"parents":["HP:0001622"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy.","id":"HP:0005268","name":"Miscarriage","obsolete":false,"parents":["HP:0034241"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Early fetal demise"},{"scope":"EXACT","text":"Early foetal demise"},{"scope":"EXACT","text":"Spontaneous abortion"}]} +{"alt_ids":[],"definition":"Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure).","id":"HP:0005272","name":"Prominent nasolabial fold","obsolete":false,"parents":["HP:0005289"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deep laugh lines"},{"scope":"EXACT","text":"Deep nasolabial crease"},{"scope":"EXACT","text":"Deep nasolabial fold"},{"scope":"EXACT","text":"Deep nasolabial groove"},{"scope":"EXACT","text":"Deep smile lines"},{"scope":"EXACT","text":"Nasolabial crease, prominent"},{"scope":"EXACT","text":"Prominent laugh lines"},{"scope":"EXACT","text":"Prominent nasolabial groove"},{"scope":"EXACT","text":"Prominent smile lines"}]} +{"alt_ids":[],"definition":"Lack of the cartilage of the nasal septum.","id":"HP:0005273","name":"Absent nasal septal cartilage","obsolete":false,"parents":["HP:0009935","HP:3000034"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent nasal septal cartilage"},{"scope":"EXACT","text":"Absent nasal septum"},{"scope":"EXACT","text":"Ageneis of nasal septal cartilage"},{"scope":"NARROW","text":"Failure of development of nasal septal cartilage"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005274","name":"Prominent nasal tip","obsolete":false,"parents":["HP:0000436"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Bulbous tip of nose"},{"scope":"RELATED","text":"Hyperplasia of nasal tip"},{"scope":"RELATED","text":"Hyperplasia of tip of nose"},{"scope":"RELATED","text":"Hypertrophy of nasal tip"},{"scope":"RELATED","text":"Hypertrophy of tip of nose"},{"scope":"EXACT","text":"Large nasal tip"},{"scope":"EXACT","text":"Large tip of nose"},{"scope":"EXACT","text":"Prominent nasal tip"},{"scope":"EXACT","text":"Prominent tip of nose"},{"scope":"EXACT","text":"Pronounced nasal tip"},{"scope":"EXACT","text":"Pronounced tip of nose"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005275","name":"Cartilaginous ossification of nose","obsolete":false,"parents":["HP:0000429"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cartilaginous nasal ossification"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005278","name":"Hypoplastic nasal tip","obsolete":false,"parents":["HP:0000436"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Aplasia of nasal tip"},{"scope":"EXACT","text":"Decreased size of nasal tip"},{"scope":"EXACT","text":"Decreased size of tip of nose"},{"scope":"RELATED","text":"Deficient nasal tip"},{"scope":"EXACT","text":"Hypoplasia of tip of nose"},{"scope":"RELATED","text":"Hypotrophic nasal tip"},{"scope":"RELATED","text":"Hypotrophic tip of nose"},{"scope":"EXACT","text":"Small nasal tip"},{"scope":"EXACT","text":"Small tip of nose"},{"scope":"EXACT","text":"Underdevelopment of nasal tip"},{"scope":"EXACT","text":"Underdevelopment of tip of nose"}]} +{"alt_ids":["HP:0000425","HP:0000428","HP:0000439","HP:0000459","HP:0004413","HP:0004505","HP:0004506","HP:0004666","HP:0005119","HP:0005284"],"definition":"Posterior positioning of the nasal root in relation to the overall facial profile for age.","id":"HP:0005280","name":"Depressed nasal bridge","obsolete":false,"parents":["HP:0000422"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Concave bridge of nose"},{"scope":"RELATED","text":"Concave nasal bridge"},{"scope":"EXACT","text":"Depressed bridge of nose"},{"scope":"EXACT","text":"Depressed nasal bridge"},{"scope":"EXACT","text":"Depressed nasal root"},{"scope":"RELATED","text":"Depressed nasal root/bridge"},{"scope":"EXACT","text":"Flat bridge of nose"},{"scope":"EXACT","text":"Flat nasal bridge"},{"scope":"EXACT","text":"Flat nasal root"},{"scope":"EXACT","text":"Flat, nasal bridge"},{"scope":"EXACT","text":"Flattened nasal bridge"},{"scope":"EXACT","text":"Low nasal bridge"},{"scope":"EXACT","text":"Low nasal root"},{"scope":"EXACT","text":"Retruded bridge of nose"},{"scope":"EXACT","text":"Retruded nasal bridge"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005281","name":"Hypoplastic nasal bridge","obsolete":false,"parents":["HP:0000422"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased size of bridge of nose"},{"scope":"EXACT","text":"Decreased size of nasal bridge"},{"scope":"EXACT","text":"Hypoplastic bridge of nose"},{"scope":"RELATED","text":"Hypotrophic bridge of nose"},{"scope":"RELATED","text":"Hypotrophic nasal bridge"},{"scope":"EXACT","text":"Small bridge of nose"},{"scope":"EXACT","text":"Small nasal bridge"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005285","name":"Absent nasal 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+{"alt_ids":[],"definition":null,"id":"HP:0005289","name":"Abnormal nasolabial region morphology","obsolete":false,"parents":["HP:0000366"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the nasolabial region"},{"scope":"EXACT","text":"Anomaly of the nasolabial region"},{"scope":"NARROW","text":"Deformity of the nasolabial region"},{"scope":"NARROW","text":"Malformation of the nasolabial region"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005290","name":"Internal carotid artery hypoplasia","obsolete":false,"parents":["HP:3000062"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Aplasia of internal carotid artery"},{"scope":"EXACT","text":"Decreased size of internal carotid artery"},{"scope":"RELATED","text":"Deficiency of internal carotid artery"},{"scope":"RELATED","text":"Hypotrophic internal carotid artery"},{"scope":"EXACT","text":"Small internal carotid artery"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005291","name":"Inflammatory arteriopathy","obsolete":false,"parents":["HP:0034785"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005292","name":"Intimal thickening in the coronary arteries","obsolete":false,"parents":["HP:0006704"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005293","name":"Venous insufficiency","obsolete":false,"parents":["HP:0002624"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Poorly functioning veins"}]} +{"alt_ids":[],"definition":"A separation (dissection) of the layers of an artery.","id":"HP:0005294","name":"Arterial dissection","obsolete":false,"parents":["HP:0011004"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum.","id":"HP:0005295","name":"Pseudocoarctation of the aorta","obsolete":false,"parents":["HP:0012303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005296","name":"obsolete Occlusive vascular disease","obsolete":true,"parents":[],"replaced_by":["HP:0004950"],"synonyms":[]} +{"alt_ids":[],"definition":"Peripheral arterial stenosis with onset before the age of 50 years.","id":"HP:0005297","name":"Premature occlusive vascular stenosis","obsolete":false,"parents":["HP:0004950"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005298","name":"obsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia","obsolete":true,"parents":[],"replaced_by":["HP:0006695"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005299","name":"obsolete Premature peripheral vascular disease","obsolete":true,"parents":[],"replaced_by":["HP:0004950"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005300","name":"Nodular inflammatory vasculitis","obsolete":false,"parents":["HP:0034785"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress.","id":"HP:0005301","name":"Persistent left superior vena cava","obsolete":false,"parents":["HP:0025575"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"PLSVC"}]} +{"alt_ids":[],"definition":"Abnormal tortuous (i.e., twisted) form of the carotid arteries.","id":"HP:0005302","name":"Carotid artery tortuosity","obsolete":false,"parents":["HP:0005116","HP:0005344"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tortuous carotid arteries"}]} +{"alt_ids":[],"definition":"Calcification, that is, pathological deposition of calcium salts in the arch of aorta.","id":"HP:0005303","name":"Aortic arch calcification","obsolete":false,"parents":["HP:0004962"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005304","name":"Hypoplastic pulmonary veins","obsolete":false,"parents":["HP:0030968"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Underdeveloped lung veins"}]} +{"alt_ids":[],"definition":"Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.","id":"HP:0005305","name":"Cerebral venous thrombosis","obsolete":false,"parents":["HP:0004936"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blood clot in cerebral vein"},{"scope":"EXACT","text":"Cerebral thrombosis"},{"scope":"EXACT","text":"Cerebral vein thrombosis"}]} +{"alt_ids":[],"definition":"The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces.","id":"HP:0005306","name":"Capillary hemangioma","obsolete":false,"parents":["HP:0001028"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Capillary hemangiomata"},{"scope":"EXACT","text":"Strawberry birthmark"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005307","name":"Postural hypotension with compensatory tachycardia","obsolete":false,"parents":["HP:0001278"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005308","name":"Pulmonary artery vasoconstriction","obsolete":false,"parents":["HP:0030967"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005309","name":"obsolete Peripheral vascular insufficiency","obsolete":true,"parents":[],"replaced_by":["HP:0004950"],"synonyms":[]} +{"alt_ids":[],"definition":"A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta.","id":"HP:0005310","name":"Large vessel vasculitis","obsolete":false,"parents":["HP:0034784"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect characterized by the lack of formation of the pulmonary blood vessels.","id":"HP:0005311","name":"Agenesis of pulmonary vessels","obsolete":false,"parents":["HP:0004930"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent lung vessels"}]} +{"alt_ids":[],"definition":"Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation.","id":"HP:0005312","name":"Pulmonary aterial intimal fibrosis","obsolete":false,"parents":["HP:0030966"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer.","id":"HP:0005313","name":"Arterial fibromuscular dysplasia","obsolete":false,"parents":["HP:0011004"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005314","name":"Anomalous branches of internal carotid artery","obsolete":false,"parents":["HP:0005344"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005315","name":"obsolete Peripheral artery occlusive disease","obsolete":true,"parents":[],"replaced_by":["HP:0004950"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005316","name":"Peripheral pulmonary vessel aplasia","obsolete":false,"parents":["HP:0004930"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units.","id":"HP:0005317","name":"Increased pulmonary vascular resistance","obsolete":false,"parents":["HP:0030875"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the blood vessels within the brain.","id":"HP:0005318","name":"Cerebral vasculitis","obsolete":false,"parents":["HP:0034784","HP:0100659"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005320","name":"Lack of facial subcutaneous fat","obsolete":false,"parents":["HP:0003717"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lack of facial fat below the skin"}]} +{"alt_ids":[],"definition":"A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations.","id":"HP:0005321","name":"Mandibulofacial dysostosis","obsolete":false,"parents":["HP:0004439"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Treacher Collins syndrome"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005322","name":"Prominent nasal septum","obsolete":false,"parents":["HP:0000419"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Low hanging nasal septum"},{"scope":"NARROW","text":"Low hanging septum of nose"},{"scope":"EXACT","text":"Prominent nasal septum"},{"scope":"EXACT","text":"Prominent septum of nose"},{"scope":"NARROW","text":"Visible nasal septum"},{"scope":"NARROW","text":"Visible septum of nose"}]} +{"alt_ids":[],"definition":"Unilateral overgrowth of facial tissues, including muscles, bones and skin.","id":"HP:0005323","name":"Hemifacial 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temples to the lateral eyebrows.","id":"HP:0005325","name":"Extension of hair growth on temples to lateral eyebrow","obsolete":false,"parents":["HP:0000599"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual hairline with hair growth on temples extending to lateral eyebrow"}]} +{"alt_ids":["HP:0005331"],"definition":"Underdevelopment of the philtrum.","id":"HP:0005326","name":"Hypoplastic philtrum","obsolete":false,"parents":["HP:0000288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small philtrum"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005327","name":"Loss of facial expression","obsolete":false,"parents":["HP:0004673"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Loss of facial expression"}]} +{"alt_ids":["HP:0000335","HP:0005333"],"definition":"A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.","id":"HP:0005328","name":"Progeroid facial 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expression","obsolete":false,"parents":["HP:0005324"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sleepy facial expression"},{"scope":"EXACT","text":"Somnolent facial expression"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005336","name":"Forehead hyperpigmentation","obsolete":false,"parents":["HP:0000290","HP:0007400"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Darkening of the forehead"}]} +{"alt_ids":["HP:0004521","HP:0009923"],"definition":"Decreased density/number and/or decreased diameter of lateral eyebrow hairs.","id":"HP:0005338","name":"Sparse lateral eyebrow","obsolete":false,"parents":["HP:0045075"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lateral hypoplasia of eyebrows"},{"scope":"EXACT","text":"Lateral thinning of eyebrows"},{"scope":"EXACT","text":"Laterally sparse eyebrow"},{"scope":"EXACT","text":"Laterally sparse eyebrows"},{"scope":"EXACT","text":"Limited hair on end of eyebrow"},{"scope":"RELATED","text":"Sparse lateral eyebrows"}]} +{"alt_ids":["HP:0025541"],"definition":"An abnormality of the complement system.","id":"HP:0005339","name":"Abnormality of complement system","obsolete":false,"parents":["HP:0005368"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005340","name":"Spastic/hyperactive bladder","obsolete":false,"parents":["HP:0000009"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system.","id":"HP:0005341","name":"Autonomic bladder dysfunction","obsolete":false,"parents":["HP:0012332"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005342"],"definition":"Underdevelopment of the urinary bladder.","id":"HP:0005343","name":"Hypoplasia of the bladder","obsolete":false,"parents":["HP:0010476"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic bladder"},{"scope":"EXACT","text":"Underdeveloped bladder"}]} +{"alt_ids":[],"definition":"Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches.","id":"HP:0005344","name":"Abnormal carotid artery morphology","obsolete":false,"parents":["HP:0011004"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the carotid arteries"}]} +{"alt_ids":["HP:0030971"],"definition":"An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.","id":"HP:0005345","name":"Abnormal vena cava morphology","obsolete":false,"parents":["HP:0002624","HP:0030962"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormality of the vena cava"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005346","name":"Abnormal facial expression","obsolete":false,"parents":["HP:0000271"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal facial expression"}]} +{"alt_ids":[],"definition":"Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly. Comment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes.","id":"HP:0005347","name":"Tracheal cartilaginous sleeve","obsolete":false,"parents":["HP:0004468"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities.","id":"HP:0005348","name":"Inspiratory stridor","obsolete":false,"parents":["HP:0010307"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008746"],"definition":"Hypoplasia of the epiglottis.","id":"HP:0005349","name":"Hypoplasia of the epiglottis","obsolete":false,"parents":["HP:0010565"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic epiglottis"}]} +{"alt_ids":[],"definition":"A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms.","id":"HP:0005352","name":"Severe T-cell immunodeficiency","obsolete":false,"parents":["HP:0005374"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Severe T-cell immunodeficiency"}]} +{"alt_ids":[],"definition":"Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus.","id":"HP:0005353","name":"Recurrent herpes","obsolete":false,"parents":["HP:0034318"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Susceptibility to herpesvirus"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005354","name":"obsolete Absent cellular immunity","obsolete":true,"parents":[],"replaced_by":["HP:0011840"],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of the complement component factor I in the blood circulation below the lower limit of normal.","id":"HP:0005356","name":"Decreased circulating complement factor I concentration","obsolete":false,"parents":["HP:0004431"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased serum complement factor I"}]} +{"alt_ids":[],"definition":"Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.","id":"HP:0005357","name":"Defective B cell differentiation","obsolete":false,"parents":["HP:0005384"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.","id":"HP:0005359","name":"Aplasia of the thymus","obsolete":false,"parents":["HP:0010515"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Absent thymic shadow"},{"scope":"EXACT","text":"Absent thymus"},{"scope":"EXACT","text":"Athymia"},{"scope":"RELATED","text":"Lack of thymic shadow"}]} +{"alt_ids":[],"definition":"Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox.","id":"HP:0005360","name":"Susceptibility to chickenpox","obsolete":false,"parents":["HP:0004429"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A general term referring to a defect in immunity resulting from impaired antibody production.","id":"HP:0005363","name":"Humoral immunodeficiency","obsolete":false,"parents":["HP:0002721"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005364","name":"obsolete Severe viral infections","obsolete":true,"parents":[],"replaced_by":["HP:0004429"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005365","name":"obsolete Severe B lymphocytopenia","obsolete":true,"parents":[],"replaced_by":["HP:0010976"],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae.","id":"HP:0005366","name":"Recurrent streptococcus pneumoniae infections","obsolete":false,"parents":["HP:0002205","HP:0020096"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system.","id":"HP:0005368","name":"Abnormality of humoral immunity","obsolete":false,"parents":["HP:0010978"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Defective humoral immunity"}]} +{"alt_ids":[],"definition":"Concentration of the complement component factor H in the blood circulation below the lower limit of normal.","id":"HP:0005369","name":"Decreased circulating complement factor H concentration","obsolete":false,"parents":["HP:0004431"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased serum complement factor H"}]} +{"alt_ids":["HP:0005398"],"definition":"An abnormality of the physiological functioning of B cells.","id":"HP:0005372","name":"Abnormal B cell physiology","obsolete":false,"parents":["HP:0031409"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of B cell physiology"},{"scope":"EXACT","text":"Reduced B cell function"}]} +{"alt_ids":["HP:0005375"],"definition":"An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity.","id":"HP:0005374","name":"Cellular immunodeficiency","obsolete":false,"parents":["HP:0002721"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005375","name":"obsolete Partial cellular immunodeficiency","obsolete":true,"parents":[],"replaced_by":["HP:0005374"],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of Haemophilus influenzae infection.","id":"HP:0005376","name":"Recurrent Haemophilus influenzae infection","obsolete":false,"parents":["HP:0005420","HP:5210070"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic Haemophilus influenzae infection"},{"scope":"EXACT","text":"Persistent Haemophilus influenzae infection"},{"scope":"EXACT","text":"Recurrent H. influenzae infections"},{"scope":"EXACT","text":"Recurrent Haemophilus influenzae infections"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005379","name":"obsolete Severe T lymphocytopenia","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005414"],"definition":"Increased susceptibility to Neisseria meningitidis infections as manifested by recurrent episodes of Neisseria meningitidis infection.","id":"HP:0005381","name":"Recurrent Neisseria meningitidis infection","obsolete":false,"parents":["HP:0005430","HP:5210067"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic menigococcal infection"},{"scope":"EXACT","text":"Increased susceptibility to neisseria meningitidis infections"},{"scope":"EXACT","text":"Persistent Neisseria meningitidis infection"},{"scope":"EXACT","text":"Recurrent meningococcal disease"},{"scope":"EXACT","text":"Recurrent meningococcal infection"}]} +{"alt_ids":[],"definition":"A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of","id":"HP:0005384","name":"Defective B cell activation","obsolete":false,"parents":["HP:0005372"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to protozoan infections as manifested by recurrent episodes of protozoan infection.","id":"HP:0005386","name":"Recurrent protozoan infections","obsolete":false,"parents":["HP:0002719"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.","id":"HP:0005387","name":"Combined immunodeficiency","obsolete":false,"parents":["HP:0002721"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products.","id":"HP:0005389","name":"Depletion of components of the alternative complement pathway","obsolete":false,"parents":["HP:0005482"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005426"],"definition":"Increased susceptibility to opportunistic infections as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system.","id":"HP:0005390","name":"Recurrent opportunistic infections","obsolete":false,"parents":["HP:0002719","HP:0031690"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Frequent opportunistic infections"}]} +{"alt_ids":[],"definition":"Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e.","id":"HP:0005396","name":"Susceptibility to coronavirus 229e","obsolete":false,"parents":["HP:0004429"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005397","name":"obsolete Exaggerated cellular immune processes","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal reduction of the cell motility of neutrophils.","id":"HP:0005400","name":"Reduction of neutrophil motility","obsolete":false,"parents":["HP:0011990"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to Candida infections as manifested by recurrent episodes of Candida infection.","id":"HP:0005401","name":"Recurrent Candida infection","obsolete":false,"parents":["HP:0002841","HP:5210102"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic candidiasis"},{"scope":"EXACT","text":"Frequent candida infections"},{"scope":"EXACT","text":"Persistent Candida infection"},{"scope":"EXACT","text":"Recurrent candida infections"},{"scope":"EXACT","text":"Recurrent candidiasis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005402","name":"obsolete Primary T-lymphocyte immune abnormalities","obsolete":true,"parents":[],"replaced_by":["HP:0011840"],"synonyms":[]} +{"alt_ids":["HP:0005412","HP:0045071","HP:0045072","HP:0045080"],"definition":"Abnormal decrease in the absolute number of T cells, commonly characterized as CD3+ lymphocytes, per microliter of blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells.","id":"HP:0005403","name":"Decreased total T cell count","obsolete":false,"parents":["HP:5210411"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decrease in T cell count"},{"scope":"RELATED","text":"Decreased CD3+ T cell proportion"},{"scope":"EXACT","text":"Decreased absolute count of circulating T cells"},{"scope":"EXACT","text":"Low T cell count"},{"scope":"EXACT","text":"T cell lymphopenia"},{"scope":"EXACT","text":"T lymphocytopenia"}]} +{"alt_ids":[],"definition":"The absolute number of B cells in the blood, per microlitre is above the upper limit of normal of the reference range for the appropriate sex and age-group.","id":"HP:0005404","name":"Increased total B cell count","obsolete":false,"parents":["HP:0010975"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"B cell lymphocytosis"},{"scope":"EXACT","text":"Increase in B cell count"},{"scope":"EXACT","text":"Increase in B cell number"},{"scope":"EXACT","text":"Increased number of B cells"}]} +{"alt_ids":["HP:0000983"],"definition":"Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.","id":"HP:0005406","name":"Recurrent bacterial skin infections","obsolete":false,"parents":["HP:0001581","HP:0002718"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent bacterial skin infections"},{"scope":"EXACT","text":"Recurrent cutaneous pyogenic infections"},{"scope":"EXACT","text":"Recurrent episodes of impetigo"},{"scope":"EXACT","text":"Recurrent episodes of infectious dermatitis"},{"scope":"EXACT","text":"Recurrent pyogenic skin infections"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005407","name":"obsolete Decreased proportion of CD4-positive helper T cells","obsolete":true,"parents":[],"replaced_by":["HP:0032218"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005409","name":"obsolete Markedly reduced T cell function","obsolete":true,"parents":[],"replaced_by":["HP:0011840"],"synonyms":[]} +{"alt_ids":[],"definition":"Persistent overgrowth of Candida albicans in the gastrointestinal tract.","id":"HP:0005411","name":"Chronic intestinal candidiasis","obsolete":false,"parents":["HP:0002728"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Candida overgrowth syndrome"}]} +{"alt_ids":[],"definition":"The concentration of alpha-globulin in the blood circulation is above the upper limit of normal.","id":"HP:0005413","name":"Elevated circulating alpha-globulin concentration","obsolete":false,"parents":["HP:0032311"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005481"],"definition":"Abnormal decrease of cytotoxic CD3+CD8+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.","id":"HP:0005415","name":"Decreased total CD8+ T cell proportion","obsolete":false,"parents":["HP:5210425"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased proportion of CD8+ T cells"},{"scope":"EXACT","text":"Decreased proportion of CD8-positive T cells"},{"scope":"EXACT","text":"Decreased proportion of CD8-positive, alpha-beta T cells"}]} +{"alt_ids":[],"definition":"Concentration of the complement component factor B in the blood circulation below the lower limit of normal.","id":"HP:0005416","name":"Decreased circulating complement factor B concentration","obsolete":false,"parents":["HP:0004431"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased serum complement factor B"},{"scope":"EXACT","text":"Decreased serum factor b"}]} +{"alt_ids":["HP:0005370","HP:0005436"],"definition":"Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.","id":"HP:0005419","name":"Decreased T cell activation","obsolete":false,"parents":["HP:0410035"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased T lymphocyte activation"},{"scope":"EXACT","text":"Decreased T-cell activation"},{"scope":"EXACT","text":"Decreased T-lymphocyte activation"},{"scope":"EXACT","text":"Defective T cell activation"},{"scope":"EXACT","text":"Profound depletion of T4+ lymphocytes"}]} +{"alt_ids":["HP:0005395"],"definition":"Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents.","id":"HP:0005420","name":"Recurrent gram-negative bacterial infections","obsolete":false,"parents":["HP:0002718"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005408"],"definition":"Concentration of the complement component C3 in the blood circulation below the lower limit of normal.","id":"HP:0005421","name":"Decreased circulating complement C3 concentration","obsolete":false,"parents":["HP:0004431"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased serum C3"},{"scope":"EXACT","text":"Decreased serum complement C3"},{"scope":"EXACT","text":"Decreased serum complement C3 level"}]} +{"alt_ids":[],"definition":"Lack of detectible CD8-positive T cells","id":"HP:0005422","name":"Absence of CD8+ T cells","obsolete":false,"parents":["HP:0005415"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of CD8-positive T cells"}]} +{"alt_ids":[],"definition":"An abnormality of the functioning of any aspect of the alternative complement pathway.","id":"HP:0005423","name":"Dysfunctional alternative complement pathway","obsolete":false,"parents":["HP:0005482"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inability of the immune system to produce targeted, protective antibodies (immunoglobulins) against specific pathogens or vaccines in the setting of normal or near-normal serum levels of total IgG, IgA, and IgM and normal absolute counts of B cells and T cells.","id":"HP:0005424","name":"Absent specific antibody response","obsolete":false,"parents":["HP:0012475"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.","id":"HP:0005425","name":"Recurrent sinopulmonary infections","obsolete":false,"parents":["HP:0002205"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic sinopulmonary infection"},{"scope":"EXACT","text":"Recurrent sinus and lung infections"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005428","name":"Severe recurrent varicella","obsolete":false,"parents":["HP:0004429"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to systemic pyogenic infections as manifested by recurrent episodes of systemic pyogenic infections.","id":"HP:0005429","name":"Recurrent systemic pyogenic infections","obsolete":false,"parents":["HP:0002718"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005377","HP:0005378"],"definition":"Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis).","id":"HP:0005430","name":"Recurrent Neisserial infections","obsolete":false,"parents":["HP:0005420"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Episodes of neisserial infection"},{"scope":"EXACT","text":"Recurrent neisseria infections"}]} +{"alt_ids":[],"definition":"At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient hypogammaglobulinemia of infancy.","id":"HP:0005432","name":"Transient hypogammaglobulinemia of infancy","obsolete":false,"parents":["HP:0004313"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Newborn gammaglobulin deficiency"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005435","name":"obsolete Impaired T cell function","obsolete":true,"parents":[],"replaced_by":["HP:0011840"],"synonyms":[]} +{"alt_ids":[],"definition":"Recurrent infections at an early age with improvement in later childhood.","id":"HP:0005437","name":"Recurrent infections in infancy and early childhood","obsolete":false,"parents":["HP:0002719"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hypoplasia of the maxillozygomatic complex.","id":"HP:0005439","name":"Maxillozygomatic hypoplasia","obsolete":false,"parents":["HP:0000327","HP:0010669"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Decreased projection of zygomaticomaxillary bone complex"},{"scope":"EXACT","text":"Decreased size of zygomaticomaxillary bone complex"},{"scope":"EXACT","text":"Deficiency of zygomaticomaxillary bone complex"},{"scope":"EXACT","text":"Hypoplasia of malar bone complex"},{"scope":"EXACT","text":"Hypoplasia of zygomaticomaxillary complex"},{"scope":"EXACT","text":"Underdevelopment of zygomaticomaxillary bone complex"}]} +{"alt_ids":[],"definition":"An increased density in the cranial sutures following obliteration.","id":"HP:0005441","name":"Sclerotic cranial sutures","obsolete":false,"parents":["HP:0011329"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed.","id":"HP:0005442","name":"Widely patent coronal suture","obsolete":false,"parents":["HP:0011329"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increased size of the posterior cranial fossa.","id":"HP:0005445","name":"Enlarged posterior fossa","obsolete":false,"parents":["HP:0000932"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Widened posterior fossa"}]} +{"alt_ids":[],"definition":"Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal.","id":"HP:0005446","name":"Obtuse angle of mandible","obsolete":false,"parents":["HP:0000277"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High mandibular plane angle"},{"scope":"EXACT","text":"Steep mandibular plane angle"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005449","name":"Bridged sella turcica","obsolete":false,"parents":["HP:0002681"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in bone density affecting the calvaria (roof of the skull).","id":"HP:0005450","name":"Calvarial osteosclerosis","obsolete":false,"parents":["HP:0005464"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005451","name":"Decreased cranial base ossification","obsolete":false,"parents":["HP:0004331"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Aplasia or hypoplasia of the paranasal sinuses.","id":"HP:0005453","name":"Absent/hypoplastic paranasal sinuses","obsolete":false,"parents":["HP:0009120"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lack (aplasia) of the ethmoidal sinus.","id":"HP:0005456","name":"Absent ethmoidal sinuses","obsolete":false,"parents":["HP:0002689","HP:3000040"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Agenesis of ethmoid sinuses"},{"scope":"EXACT","text":"Failure of development of ethmoid sinuses"},{"scope":"EXACT","text":"Missing ethmoid sinuses"}]} +{"alt_ids":[],"definition":"Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point.","id":"HP:0005458","name":"Premature closure of fontanelles","obsolete":false,"parents":["HP:0011328"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Early closure of the bregma sutures"},{"scope":"BROAD","text":"Early closure of the cranial sutures"},{"scope":"EXACT","text":"Early closure of the fontanelles"},{"scope":"EXACT","text":"Obliterated fontanelles"},{"scope":"NARROW","text":"Premature closure of the bregma sutures"},{"scope":"BROAD","text":"Premature closure of the cranial sutures"},{"scope":"EXACT","text":"Premature fontanel closure"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005461","name":"Craniofacial disproportion","obsolete":false,"parents":["HP:0001999"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of calcium deposition in the falx cerebri.","id":"HP:0005462","name":"Calcification of falx cerebri","obsolete":false,"parents":["HP:0002514","HP:0010653"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005463","name":"Elongated sella turcica","obsolete":false,"parents":["HP:0002681"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally increased density of craniofacial bone tissue.","id":"HP:0005464","name":"Craniofacial osteosclerosis","obsolete":false,"parents":["HP:0011001","HP:0011821"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Cranial sclerosis"}]} +{"alt_ids":["HP:0008508"],"definition":"Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton.","id":"HP:0005465","name":"Facial hyperostosis","obsolete":false,"parents":["HP:0004493"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Enlargement of facial bones"},{"scope":"BROAD","text":"Enlargement of facial skeleton"},{"scope":"EXACT","text":"Enlargement of the facial bones"},{"scope":"EXACT","text":"Excessive growth of facial bones"},{"scope":"EXACT","text":"Excessive growth of facial skeleton"},{"scope":"EXACT","text":"Hyperostosis of facial bones"},{"scope":"EXACT","text":"Hyperostosis of facial skeleton"},{"scope":"BROAD","text":"Hypertrophy of facial bones"},{"scope":"BROAD","text":"Hypertrophy of facial skeleton"},{"scope":"EXACT","text":"Hypertrophy of the facial bones"},{"scope":"EXACT","text":"Increase in size of the facial bones"},{"scope":"RELATED","text":"Increased ossification of facial bones"},{"scope":"RELATED","text":"Increased ossification of facial skeleton"},{"scope":"EXACT","text":"Overgrowth of facial bones"},{"scope":"EXACT","text":"Overgrowth of facial skeleton"},{"scope":"EXACT","text":"Overgrowth of the facial bones"}]} +{"alt_ids":["HP:0005493"],"definition":"Underdevelopment of the frontal bone.","id":"HP:0005466","name":"Hypoplasia of the frontal bone","obsolete":false,"parents":["HP:0002692","HP:0011218"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased size of bone of forehead"},{"scope":"EXACT","text":"Hypoplastic frontal bones"},{"scope":"RELATED","text":"Hypotrophic frontal bone"},{"scope":"RELATED","text":"Hypotrophic frontal bones"},{"scope":"EXACT","text":"Small bone of forehead"},{"scope":"RELATED","text":"Thin bone of forehead"},{"scope":"EXACT","text":"Underdevelopment of bone of forehead"}]} +{"alt_ids":["HP:0000247","HP:0000249"],"definition":"Reduced convexity of the occiput (posterior part of skull).","id":"HP:0005469","name":"Flat occiput","obsolete":false,"parents":["HP:0011217"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Flat back of skull"},{"scope":"BROAD","text":"Flat back of the head"},{"scope":"BROAD","text":"Flat back of the skull"},{"scope":"EXACT","text":"Flat posterior cranium"},{"scope":"BROAD","text":"Flat posterior head"},{"scope":"EXACT","text":"Posterior flattening of the skull"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005472","name":"Orbital craniosynostosis","obsolete":false,"parents":["HP:0001363","HP:3000030"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bony fusion of malleus, incus, and stapes.","id":"HP:0005473","name":"Fusion of middle ear ossicles","obsolete":false,"parents":["HP:0004452","HP:0100240"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused ossicles"}]} +{"alt_ids":["HP:0002701","HP:0002702","HP:0005454","HP:0005471"],"definition":"Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).","id":"HP:0005474","name":"Decreased calvarial ossification","obsolete":false,"parents":["HP:0002683","HP:0004331"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Poorly ossified calvaria"},{"scope":"EXACT","text":"Poorly ossified calvarium"},{"scope":"RELATED","text":"Skull soft on palpation"},{"scope":"EXACT","text":"Soft calvaria"},{"scope":"EXACT","text":"Soft skullcap"},{"scope":"EXACT","text":"Undermineralized calvarium"}]} +{"alt_ids":[],"definition":"The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed.","id":"HP:0005476","name":"Widely patent sagittal suture","obsolete":false,"parents":["HP:0011329"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Progressively increasing bone density of the skull base without significant changes in bony contour.","id":"HP:0005477","name":"Progressive sclerosis of skull base","obsolete":false,"parents":["HP:0002694"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005478","name":"Prominent frontal sinuses","obsolete":false,"parents":["HP:0002687"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Hyperplasia of frontal sinus"},{"scope":"RELATED","text":"Hypertrophy of frontal sinus"},{"scope":"RELATED","text":"Increased size of frontal sinus"},{"scope":"RELATED","text":"Increased volume of frontal sinus"},{"scope":"EXACT","text":"Large frontal sinus"}]} +{"alt_ids":["HP:0002854"],"definition":"An abnormally decreased level of immunoglobulin E (IgE) in blood.","id":"HP:0005479","name":"Decreased circulating IgE concentration","obsolete":false,"parents":["HP:0004313","HP:0410241"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased IgE"},{"scope":"EXACT","text":"Decreased circulating IgE"},{"scope":"EXACT","text":"IgE deficiency"}]} +{"alt_ids":[],"definition":"A deviation in any aspect of the alternative complement pathway.","id":"HP:0005482","name":"Abnormality of the alternative complement pathway","obsolete":false,"parents":["HP:0005339"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the epiglottis.","id":"HP:0005483","name":"Abnormal epiglottis morphology","obsolete":false,"parents":["HP:0025423"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the epiglottis"}]} +{"alt_ids":["HP:0000241","HP:0000259","HP:0005499"],"definition":"Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.","id":"HP:0005484","name":"Secondary microcephaly","obsolete":false,"parents":["HP:0000252"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acquired microcephaly"},{"scope":"EXACT","text":"Deceleration of head growth"},{"scope":"BROAD","text":"Development of small head that was not present at birth"},{"scope":"EXACT","text":"Microcephaly, acquired"},{"scope":"EXACT","text":"Microcephaly, postnatal"},{"scope":"EXACT","text":"Postnatal deceleration of head circumference"},{"scope":"EXACT","text":"Postnatal microcephaly"}]} +{"alt_ids":[],"definition":"A fontanelle that is small for age.","id":"HP:0005486","name":"Small fontanelle","obsolete":false,"parents":["HP:0011328"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Little cranial sutures"},{"scope":"EXACT","text":"Little fontanelle"},{"scope":"EXACT","text":"Microfontanelle"},{"scope":"NARROW","text":"Small bregma sutures"},{"scope":"BROAD","text":"Small cranial sutures"},{"scope":"EXACT","text":"Small soft spot"}]} +{"alt_ids":["HP:0005488","HP:0005751"],"definition":"Vertical bony ridge positioned in the midline of the forehead.","id":"HP:0005487","name":"Prominent metopic ridge","obsolete":false,"parents":["HP:0005556"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prominent frontal ridge"},{"scope":"NARROW","text":"Prominent frontal suture"},{"scope":"EXACT","text":"Prominent metopic suture"},{"scope":"NARROW","text":"Ridging of frontal suture"},{"scope":"EXACT","text":"Ridging of metopic suture"}]} +{"alt_ids":[],"definition":"The postnatal development of an abnormally large skull (macrocephaly).","id":"HP:0005490","name":"Postnatal macrocephaly","obsolete":false,"parents":["HP:0000256"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Macrocephaly, postnatal"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005494","name":"Premature posterior fontanelle closure","obsolete":false,"parents":["HP:0005458"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root.","id":"HP:0005495","name":"Metopic suture patent to nasal root","obsolete":false,"parents":["HP:0005556"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005498","name":"Midline skin dimples over anterior/posterior fontanelles","obsolete":false,"parents":["HP:0000236"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005502","name":"Increased red cell osmotic fragility","obsolete":false,"parents":["HP:0020054"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased erythrocyte osmotic fragility"},{"scope":"EXACT","text":"Increased red cell fragility"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005505","name":"Refractory anemia","obsolete":false,"parents":["HP:0001903"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Refractory anaemia"}]} +{"alt_ids":["HP:0005544"],"definition":"A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate.","id":"HP:0005506","name":"Chronic myelogenous leukemia","obsolete":false,"parents":["HP:0005558"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic myelocytic leukaemia"},{"scope":"EXACT","text":"Chronic myelocytic leukemia"},{"scope":"EXACT","text":"Chronic myelogenous leukaemia"},{"scope":"EXACT","text":"Chronic myeloid leukaemia"},{"scope":"EXACT","text":"Chronic myeloid leukemia"}]} +{"alt_ids":[],"definition":"Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues.","id":"HP:0005507","name":"Hemoglobin Barts","obsolete":false,"parents":["HP:0011902"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Haemoglobin Barts"},{"scope":"EXACT","text":"Hb Barts"}]} +{"alt_ids":[],"definition":"Presence of a monoclonal immunoglobulin M protein in the serum.","id":"HP:0005508","name":"Monoclonal elevation of circulating IgM concentration","obsolete":false,"parents":["HP:0003496","HP:0005523","HP:0031047"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Waldenstrom macroglobulinemia"}]} +{"alt_ids":[],"definition":"A transient reduction in the number of erythroblasts in the circulation.","id":"HP:0005510","name":"Transient erythroblastopenia","obsolete":false,"parents":["HP:0001903"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Transient decrease in blood erythrocyte number"}]} +{"alt_ids":[],"definition":"Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells.","id":"HP:0005511","name":"Heinz body anemia","obsolete":false,"parents":["HP:0001878"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Heinz body anaemia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005512","name":"obsolete Impaired neutrophil killing of staphylococci","obsolete":true,"parents":[],"replaced_by":["HP:0003203"],"synonyms":[]} +{"alt_ids":[],"definition":"Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow.","id":"HP:0005513","name":"Increased megakaryocyte count","obsolete":false,"parents":["HP:0012143"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas.","id":"HP:0005517","name":"T-cell lymphoma/leukemia","obsolete":false,"parents":["HP:0012190"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005536"],"definition":"Larger than normal size of erythrocytes.","id":"HP:0005518","name":"Increased mean corpuscular volume","obsolete":false,"parents":["HP:0025065"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Erythrocyte macrocytosis"},{"scope":"EXACT","text":"Increased MCV"}]} +{"alt_ids":[],"definition":"A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced.","id":"HP:0005520","name":"Chronic disseminated intravascular coagulation","obsolete":false,"parents":["HP:0005521"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic consumption coagulopathy"},{"scope":"EXACT","text":"Compensated disseminated intravascular coagulation"}]} +{"alt_ids":[],"definition":"Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels.","id":"HP:0005521","name":"Disseminated intravascular coagulation","obsolete":false,"parents":["HP:0001977"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment.","id":"HP:0005522","name":"Pyridoxine-responsive sideroblastic anemia","obsolete":false,"parents":["HP:0001924"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pyridoxine-responsive sideroblastic anaemia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005523","name":"Lymphoproliferative disorder","obsolete":false,"parents":["HP:0004377"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Lymphoproliferative disorders"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005524","name":"Macrocytic hemolytic disease","obsolete":false,"parents":["HP:0001878"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005525","name":"Spontaneous hemolytic crises","obsolete":false,"parents":["HP:0001878"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias.","id":"HP:0005526","name":"Lymphoid leukemia","obsolete":false,"parents":["HP:0001909"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lymphoid leukaemia"}]} +{"alt_ids":["HP:0004867","HP:0005500","HP:0005530","HP:0005538"],"definition":"Amount or activity of kininogen is below the lower limit of normal. Kininogen functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade.","id":"HP:0005527","name":"Reduced kininogen activity","obsolete":false,"parents":["HP:0005559","HP:0010989"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fitzgerald factor deficiency"},{"scope":"EXACT","text":"Kininogen deficiency"},{"scope":"EXACT","text":"Williams factor deficiency"},{"scope":"EXACT","text":"Williams-Fitzgerald-Flaujeac factor deficiency"}]} +{"alt_ids":["HP:0005529","HP:0100549"],"definition":"A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.","id":"HP:0005528","name":"Bone marrow hypocellularity","obsolete":false,"parents":["HP:0012145"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bone marrow failure"},{"scope":"EXACT","text":"Bone marrow hypoplasia"},{"scope":"EXACT","text":"Hypoplastic bone marrow"},{"scope":"EXACT","text":"Myeloid hypoplasia"}]} +{"alt_ids":[],"definition":"A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias.","id":"HP:0005531","name":"Biphenotypic acute leukemia","obsolete":false,"parents":["HP:0002488"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acute biphenotypic leukaemia"},{"scope":"EXACT","text":"Biphenotypic acute leukaemia"},{"scope":"EXACT","text":"Myeloid/lymphoid leukaemia"},{"scope":"EXACT","text":"Myeloid/lymphoid leukemia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005532","name":"Macrocytic dyserythropoietic anemia","obsolete":false,"parents":["HP:0001972"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Macrocytic dyserythropoietic anaemia"}]} +{"alt_ids":[],"definition":"A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts.","id":"HP:0005534","name":"Transient myeloproliferative syndrome","obsolete":false,"parents":["HP:0005547"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"TMD"},{"scope":"EXACT","text":"Transient leukaemia of Down syndrome"},{"scope":"EXACT","text":"Transient leukemia of Down syndrome"},{"scope":"EXACT","text":"Transient myeloproliferative disorder"}]} +{"alt_ids":[],"definition":"A form of hemolytic anemia that can be triggered by exertion.","id":"HP:0005535","name":"Exercise-induced hemolysis","obsolete":false,"parents":["HP:0001878"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001938"],"definition":"Average platelet volume below the lower limit of the normal reference interval.","id":"HP:0005537","name":"Decreased mean platelet volume","obsolete":false,"parents":["HP:0011876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small platelet size"},{"scope":"EXACT","text":"Small platelets"},{"scope":"EXACT","text":"Small platelets size"}]} +{"alt_ids":[],"definition":"A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent.","id":"HP:0005539","name":"T cell chronic lymphocytic lymphoma/leukemia","obsolete":false,"parents":["HP:0005526"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005540","name":"obsolete Red blood cell keratocytosis","obsolete":true,"parents":[],"replaced_by":["HP:0004447"],"synonyms":[]} +{"alt_ids":[],"definition":"Persistent absence of detectable circulating granulocytes in the blood with no detected secondary cause. Usually a value of less than 50 granulocytes per microliter is considered to be an absence.","id":"HP:0005541","name":"Congenital agranulocytosis","obsolete":false,"parents":["HP:0012234"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003229"],"definition":"An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot.","id":"HP:0005542","name":"Prolonged whole-blood clotting time","obsolete":false,"parents":["HP:0001928"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prolonged clotting time"}]} +{"alt_ids":[],"definition":"An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va.","id":"HP:0005543","name":"Reduced protein C activity","obsolete":false,"parents":["HP:0030780"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Protein C deficiency"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005546","name":"Increased red cell osmotic resistance","obsolete":false,"parents":["HP:0020054"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.","id":"HP:0005547","name":"Myeloproliferative disorder","obsolete":false,"parents":["HP:0001909"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced count of megakaryocytes.","id":"HP:0005548","name":"Megakaryocytopenia","obsolete":false,"parents":["HP:0012143"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Megakaryocytes decreased in bone marrow"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005549","name":"obsolete Congenital neutropenia","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006734","HP:0006760"],"definition":"A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias.","id":"HP:0005550","name":"Chronic lymphatic leukemia","obsolete":false,"parents":["HP:0005558"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic lymphatic leukaemia"},{"scope":"EXACT","text":"Chronic lymphocytic leukaemia"},{"scope":"EXACT","text":"Chronic lymphocytic leukemia"}]} +{"alt_ids":[],"definition":"The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a \"metopic suture\".","id":"HP:0005556","name":"Abnormality of the metopic suture","obsolete":false,"parents":["HP:0000290","HP:0011329"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the zygomatic arch, also known as the cheek bone.","id":"HP:0005557","name":"Abnormal zygomatic arch morphology","obsolete":false,"parents":["HP:0010668"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the malar arch"},{"scope":"EXACT","text":"Abnormality of the zygomatic arch"},{"scope":"NARROW","text":"Anomaly of the malar arch"},{"scope":"NARROW","text":"Anomaly of the zygomatic arch"},{"scope":"NARROW","text":"Deformity of the malar arch"},{"scope":"NARROW","text":"Deformity of the zygomatic arch"},{"scope":"NARROW","text":"Malformation of the malar arch"},{"scope":"NARROW","text":"Malformation of the zygomatic arch"}]} +{"alt_ids":[],"definition":"A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.","id":"HP:0005558","name":"Chronic leukemia","obsolete":false,"parents":["HP:0001909"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Chronic blood cancer"},{"scope":"EXACT","text":"Chronic leukaemia"}]} +{"alt_ids":[],"definition":"The activity or concentration of a component of the kinin-kallikrein system is outside the limits of normal.","id":"HP:0005559","name":"Abnormal kinin-kallikrein system component activity","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia.","id":"HP:0005560","name":"Imbalanced hemoglobin synthesis","obsolete":false,"parents":["HP:0011902"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Imbalanced Hb synthesis"},{"scope":"EXACT","text":"Imbalanced haemoglobin synthesis"}]} +{"alt_ids":[],"definition":"An anomaly of the form or number of cells in the bone marrow.","id":"HP:0005561","name":"Abnormal bone marrow cell morphology","obsolete":false,"parents":["HP:0001871"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of bone marrow cell morphology"},{"scope":"EXACT","text":"Anomaly of the bone marrow cells"},{"scope":"RELATED","text":"Bone marrow disease"}]} +{"alt_ids":[],"definition":"The presence of many cysts in the kidney.","id":"HP:0005562","name":"Multiple renal cysts","obsolete":false,"parents":["HP:0000107"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multiple kidney cysts"}]} +{"alt_ids":[],"definition":"A reduction in the count of nephrons per kidney.","id":"HP:0005563","name":"Decreased numbers of nephrons","obsolete":false,"parents":["HP:0012575"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Decreased numbers of glomeruli"},{"scope":"EXACT","text":"Oligonephronia"}]} +{"alt_ids":["HP:0005581"],"definition":"A lack of differentiation between renal cortex and medulla on diagnostic imaging.","id":"HP:0005564","name":"Absence of renal corticomedullary differentiation","obsolete":false,"parents":["HP:0005932"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent renal corticomedullary differentiation"},{"scope":"EXACT","text":"Loss of corticomedullary differentiation"}]} +{"alt_ids":["HP:0005573"],"definition":"Reduced differentiation between renal cortex and medulla on diagnostic imaging.","id":"HP:0005565","name":"Reduced renal corticomedullary differentiation","obsolete":false,"parents":["HP:0005932"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Loss of definition of corticomedullary differentiation"}]} +{"alt_ids":[],"definition":"High urine magnesium in the presence of hypomagnesemia.","id":"HP:0005567","name":"Renal magnesium wasting","obsolete":false,"parents":["HP:0012607"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005571","name":"Increased renal tubular phosphate reabsorption","obsolete":false,"parents":["HP:0011038"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased percent tubular reabsorption of phosphorus"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005572","name":"Decreased renal tubular phosphate excretion","obsolete":false,"parents":["HP:0011036"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss.","id":"HP:0005574","name":"Non-acidotic proximal tubulopathy","obsolete":false,"parents":["HP:0000114"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease.","id":"HP:0005575","name":"Hemolytic-uremic syndrome","obsolete":false,"parents":["HP:0012211"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hemolytic uremic syndrome"}]} +{"alt_ids":["HP:0000129","HP:0004714","HP:0008171"],"definition":"A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy.","id":"HP:0005576","name":"Tubulointerstitial fibrosis","obsolete":false,"parents":["HP:0001969","HP:0030760"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tubulointerstitial renal fibrosis"},{"scope":"RELATED","text":"Tubulointerstitial scarring"}]} +{"alt_ids":[],"definition":"Any impairment of reabsorption of chloride by the kidney.","id":"HP:0005579","name":"Impaired renal tubular reabsorption of chloride","obsolete":false,"parents":["HP:0011038"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Impaired reabsorption of Cl"},{"scope":"EXACT","text":"Impaired reabsorption of Cl-"}]} +{"alt_ids":[],"definition":"A duplication of the renal pelvis.","id":"HP:0005580","name":"Duplication of renal pelvis","obsolete":false,"parents":["HP:0000075","HP:0010944"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005577"],"definition":"DIsruption and breaking up of the basement membrane of the tubules of the kidney.","id":"HP:0005583","name":"Tubular basement membrane disintegration","obsolete":false,"parents":["HP:0020131"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disintegration of the tubular basement membrane"}]} +{"alt_ids":["HP:0006720"],"definition":"A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.","id":"HP:0005584","name":"Renal cell carcinoma","obsolete":false,"parents":["HP:0009726"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cancer starting in small tubes in kidneys"},{"scope":"EXACT","text":"Hypernephroma"},{"scope":"EXACT","text":"Renal carcinoma"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005585","name":"Spotty hyperpigmentation","obsolete":false,"parents":["HP:0007400"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Patchy hyperpigmentation"},{"scope":"EXACT","text":"Spotty increased pigmentation"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005586","name":"Hyperpigmentation in sun-exposed areas","obsolete":false,"parents":["HP:0000953"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperpigmentation of exposed areas"},{"scope":"EXACT","text":"Increased pigmentation in sun-exposed areas"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005587","name":"obsolete Profuse pigmented skin lesions","obsolete":true,"parents":[],"replaced_by":["HP:0001000"],"synonyms":[]} +{"alt_ids":[],"definition":"A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected.","id":"HP:0005588","name":"Patchy palmoplantar hyperkeratosis","obsolete":false,"parents":["HP:0000972"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Palmoplantar keratoderma, patchy"},{"scope":"EXACT","text":"Patchy palmoplantar keratoderma"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005590","name":"Spotty hypopigmentation","obsolete":false,"parents":["HP:0001053"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Patchy depigmentation"},{"scope":"EXACT","text":"Patchy hypopigmentation"},{"scope":"EXACT","text":"Spotty decreased pigmentation"}]} +{"alt_ids":["HP:0003342"],"definition":"The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes.","id":"HP:0005592","name":"Giant melanosomes in melanocytes","obsolete":false,"parents":["HP:0011125"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Macromelanosomes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005593","name":"Macular hypopigmented whorls, streaks, and patches","obsolete":false,"parents":["HP:0001053"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005595","name":"Generalized hyperkeratosis","obsolete":false,"parents":["HP:0000962"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised hyperkeratosis"},{"scope":"EXACT","text":"Hyperkeratosis, generalised"},{"scope":"EXACT","text":"Hyperkeratosis, generalized"}]} +{"alt_ids":[],"definition":"Loss of all scalp hair with congenital onset.","id":"HP:0005597","name":"Congenital alopecia totalis","obsolete":false,"parents":["HP:0007418"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution.","id":"HP:0005598","name":"Facial telangiectasia in butterfly midface distribution","obsolete":false,"parents":["HP:0007380"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Butterfly facial telangiectasia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005599","name":"Hypopigmentation of hair","obsolete":false,"parents":["HP:0009887"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hair hypopigmentation"},{"scope":"EXACT","text":"Loss of hair color"},{"scope":"EXACT","text":"Loss of hair colour"}]} +{"alt_ids":["HP:0005604"],"definition":"The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child.","id":"HP:0005600","name":"Congenital giant melanocytic nevus","obsolete":false,"parents":["HP:0000995"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Giant pigmented hairy nevus"},{"scope":"EXACT","text":"Giant pigmented mole"},{"scope":"EXACT","text":"Giant pigmented nevus"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005602","name":"Progressive vitiligo","obsolete":false,"parents":["HP:0001045"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005603","name":"Numerous congenital melanocytic nevi","obsolete":false,"parents":["HP:0000995"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Large hypermelanotic macules with jagged borders.","id":"HP:0005605","name":"Large cafe-au-lait macules with irregular margins","obsolete":false,"parents":["HP:0001034"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005606","name":"Hyperpigmented nevi and streak","obsolete":false,"parents":["HP:0000995"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005940"],"definition":null,"id":"HP:0005607","name":"Abnormal tracheobronchial morphology","obsolete":false,"parents":["HP:0012252"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tracheobronchial anomalies"}]} +{"alt_ids":[],"definition":"The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium.","id":"HP:0005608","name":"Bilobate gallbladder","obsolete":false,"parents":["HP:0034504"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bilobed gallbladder"},{"scope":"EXACT","text":"Double gallbladder"},{"scope":"EXACT","text":"Gallbladder duplication"},{"scope":"EXACT","text":"Gallbladder septated"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005609","name":"Gallbladder dysfunction","obsolete":false,"parents":["HP:0012438"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gallbladder dysfunction"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005612","name":"Arthrogryposis-like hand anomaly","obsolete":false,"parents":["HP:0005684"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006396","HP:0006425"],"definition":"Absence or underdevelopment of the femur.","id":"HP:0005613","name":"Aplasia/hypoplasia of the femur","obsolete":false,"parents":["HP:0002823","HP:0006493"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small thighbone"},{"scope":"EXACT","text":"Absent/underdeveloped thighbone"},{"scope":"EXACT","text":"Hypoplastic to absent femora"},{"scope":"EXACT","text":"Hypoplastic/aplastic femora"}]} +{"alt_ids":["HP:0002649","HP:0005854"],"definition":"An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","id":"HP:0005616","name":"Accelerated skeletal maturation","obsolete":false,"parents":["HP:0000927"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Advanced bone age"},{"scope":"EXACT","text":"Early bone maturation"},{"scope":"EXACT","text":"Premature epiphyseal closure"},{"scope":"EXACT","text":"Premature epiphyseal ossification"},{"scope":"EXACT","text":"Premature fusion of the epiphyseal growth plate"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005617","name":"Bilateral camptodactyly","obsolete":false,"parents":["HP:0100490"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003439"],"definition":"Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.","id":"HP:0005619","name":"Thoracolumbar kyphosis","obsolete":false,"parents":["HP:0002942","HP:0100712"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thoracolumbar gibbus"},{"scope":"EXACT","text":"Thoracolumbar gibbus deformity"}]} +{"alt_ids":[],"definition":"The ability of the interphalangeal joints to move beyond their normal range of motion.","id":"HP:0005620","name":"Hypermobility of interphalangeal joints","obsolete":false,"parents":["HP:0430046"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased mobility of hinge joints"}]} +{"alt_ids":[],"definition":"An anomalous trapezoidal appearance of a vertebral body. A trapezoid is a four-sided shape that has two sides that are parallel and two sides that are not parallel. In this case, the two lateral sides of the vertebra are parallel, and the top and the bottom are slanted with respect to each other such that the vertebra is shorter in the front or back than on the other side.","id":"HP:0005621","name":"Trapezoidal vertebral body","obsolete":false,"parents":["HP:0003312"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Trapezoidal shaped vertebral bodies"},{"scope":"EXACT","text":"Trapezoidal vertebral bodies"}]} +{"alt_ids":[],"definition":"Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately.","id":"HP:0005622","name":"Broad long bones","obsolete":false,"parents":["HP:0011314"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad long bones"},{"scope":"EXACT","text":"Wide long bones"},{"scope":"EXACT","text":"Widened long bones"}]} +{"alt_ids":[],"definition":"Acalvaria is an extremely rare congenital malformation characterized by an absence of flat bones of skull, dura mater, and associated muscles in the presence of normal cranial contents and facial bones.","id":"HP:0005623","name":"Absent ossification of calvaria","obsolete":false,"parents":["HP:0005474"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent bone maturation of skullcap"},{"scope":"EXACT","text":"Absent ossification of skull vault"},{"scope":"EXACT","text":"Acalvaria"}]} +{"alt_ids":[],"definition":"Osteoporosis affecting predominantly the vertebrae.","id":"HP:0005625","name":"Osteoporosis of vertebrae","obsolete":false,"parents":["HP:0003468","HP:0040161"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bony fusion of the posterior part of the L5 vertebral body with the sacrum.","id":"HP:0005626","name":"Posterior fusion of lumbosacral vertebrae","obsolete":false,"parents":["HP:0002948"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes.","id":"HP:0005627","name":"Type D brachydactyly","obsolete":false,"parents":["HP:0001156"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brachydactyly type D"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005632","name":"Absent forearm","obsolete":false,"parents":["HP:0002973"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent forearm"},{"scope":"RELATED","text":"Absent forearms"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005638","name":"Decreased anterioposterior diameter of lumbar vertebral bodies","obsolete":false,"parents":["HP:0008473"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The ability of the joints of the hand to move beyond their normal range of motion.","id":"HP:0005639","name":"Hyperextensible hand joints","obsolete":false,"parents":["HP:0430046"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005640","name":"Abnormal vertebral segmentation and fusion","obsolete":false,"parents":["HP:0002948"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment (hypoplasia) of the third toe.","id":"HP:0005643","name":"Short 3rd toe","obsolete":false,"parents":["HP:0001831"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brachydactyly of third toes"},{"scope":"EXACT","text":"Short 3rd toe"},{"scope":"EXACT","text":"Short third toe"}]} +{"alt_ids":[],"definition":"The presence of abnormal calcium deposition of the intervertebral disk.","id":"HP:0005645","name":"Intervertebral disk calcification","obsolete":false,"parents":["HP:0005108","HP:0010766"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intervertebral disc calcification"},{"scope":"EXACT","text":"Multiple intervertebral disc calcifications"},{"scope":"EXACT","text":"Multiple intervertebral disk calcifications"}]} +{"alt_ids":[],"definition":"Underdevelopment of the ulna on both sides.","id":"HP:0005648","name":"Bilateral ulnar hypoplasia","obsolete":false,"parents":["HP:0003022"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0010692"],"definition":"A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints.","id":"HP:0005650","name":"2-5 finger cutaneous syndactyly","obsolete":false,"parents":["HP:0010554"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cutaneous syndactyly between fingers 2 and 5"},{"scope":"EXACT","text":"Webbed 2nd-5th fingers"}]} +{"alt_ids":[],"definition":"Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity.","id":"HP:0005652","name":"Cortical sclerosis","obsolete":false,"parents":["HP:0003103","HP:0011001"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Moderate osteoporosis.","id":"HP:0005653","name":"Moderate generalized osteoporosis","obsolete":false,"parents":["HP:0040160"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Moderate generalised osteoporosis"}]} +{"alt_ids":[],"definition":"Multiple exostoses originating in the fingers and toes.","id":"HP:0005655","name":"Multiple digital exostoses","obsolete":false,"parents":["HP:0002762"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies.","id":"HP:0005656","name":"Positional foot deformity","obsolete":false,"parents":["HP:0001760"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005659","name":"Thoracic kyphoscoliosis","obsolete":false,"parents":["HP:0002943"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Osteomyelitis caused by infection with the bacteria, salmonella.","id":"HP:0005661","name":"Salmonella osteomyelitis","obsolete":false,"parents":["HP:0002754"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Salmonella bone infection"}]} +{"alt_ids":[],"definition":"Extreme thickening of the cortex of long bones.","id":"HP:0005665","name":"Massively thickened long bone cortices","obsolete":false,"parents":["HP:0000935"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Separation of the odontoid process from the body of the axis.","id":"HP:0005667","name":"Os odontoideum","obsolete":false,"parents":["HP:0003310"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deposition of calcium salts on both sides of the cerebrum.","id":"HP:0005671","name":"Bilateral intracerebral calcifications","obsolete":false,"parents":["HP:0002514"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bilateral intracranial calcifications"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005676","name":"Rudimentary postaxial polydactyly of hands","obsolete":false,"parents":["HP:0001162"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005678","name":"Anterior atlanto-occipital dislocation","obsolete":false,"parents":["HP:0003414"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints.","id":"HP:0005679","name":"Dupuytren contracture","obsolete":false,"parents":["HP:0009473"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tongue-like protusion from the anterior aspect of lumbar vertebral bodies.","id":"HP:0005680","name":"Tongue-like lumbar vertebral deformities","obsolete":false,"parents":["HP:0008430"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Juvenile idiopathic arthritis (JIA) is comprised of a heterogeneous group of several disease subtypes that are characterized by the onset of arthritis before the age of 16 years and has symptoms lasting at least 6 weeks.","id":"HP:0005681","name":"Juvenile idiopathic arthritis","obsolete":false,"parents":["HP:0001370"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Juvenile RA"},{"scope":"EXACT","text":"Juvenile rheumatoid arthritis"},{"scope":"EXACT","text":"Rheumatoid arthritis, juvenile"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005682","name":"Talocalcaneal synostosis","obsolete":false,"parents":["HP:0008368"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Fusion of foot joint"},{"scope":"EXACT","text":"Fusion of the subtalar joint"}]} +{"alt_ids":[],"definition":"An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function.","id":"HP:0005684","name":"Distal arthrogryposis","obsolete":false,"parents":["HP:0002803"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.","id":"HP:0005686","name":"Patchy osteosclerosis","obsolete":false,"parents":["HP:0010658","HP:0011001"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Patchy increase of bone mineral density"},{"scope":"EXACT","text":"Uneven increase in bone density"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005687","name":"Deformed humeral heads","obsolete":false,"parents":["HP:0003871"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deformed head of long bone in upper arm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005688","name":"Dysplastic distal thumb phalanges with a central hole","obsolete":false,"parents":["HP:0009617"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005689","name":"Dermatoglyphic ridges abnormal","obsolete":false,"parents":["HP:0001018"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005692","name":"obsolete Joint hyperflexibility","obsolete":true,"parents":[],"replaced_by":["HP:0001382"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005694","name":"Partial fusion of proximal row of carpal bones","obsolete":false,"parents":["HP:0009702"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Partial fusion of innermost row of wrist bones"}]} +{"alt_ids":[],"definition":"Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal.","id":"HP:0005696","name":"Postaxial polydactyly type A","obsolete":false,"parents":["HP:0001162"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005700","name":"Increased bone density with cystic changes","obsolete":false,"parents":["HP:0011001"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005701","name":"Multiple enchondromatosis","obsolete":false,"parents":["HP:0002763","HP:0030038"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A bilateral form of triphalangeal thumb.","id":"HP:0005707","name":"Bilateral triphalangeal thumbs","obsolete":false,"parents":["HP:0001199"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bilateral digitalized thumb"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005709","name":"2-3 toe cutaneous syndactyly","obsolete":false,"parents":["HP:0010621"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete cutaneous syndactyly of second and third toes"},{"scope":"EXACT","text":"Cutaneous 2,3 toe syndactyly"},{"scope":"EXACT","text":"Cutaneous syndactyly of second and third toes"},{"scope":"EXACT","text":"Webbed skin of 2nd-3rd toes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005715","name":"Flattened knee epiphyses","obsolete":false,"parents":["HP:0003071","HP:0034669"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flattened end part of knee bone"}]} +{"alt_ids":["HP:0008898"],"definition":null,"id":"HP:0005716","name":"Lethal skeletal dysplasia","obsolete":false,"parents":["HP:0002652"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lethal dwarfism identifiable at birth"}]} +{"alt_ids":[],"definition":"Abnormal reduction in length of all metacarpal bones.","id":"HP:0005720","name":"Shortening of all metacarpals","obsolete":false,"parents":["HP:0010049"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The ability of the thumb joints to move beyond their normal range of motion.","id":"HP:0005722","name":"Hyperextensible thumb","obsolete":false,"parents":["HP:0005639"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Double jointed thumb"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005723","name":"Shoe-shaped sella turcica","obsolete":false,"parents":["HP:0002681"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand.","id":"HP:0005725","name":"Nonopposable triphalangeal thumb","obsolete":false,"parents":["HP:0001199"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005726","name":"Thumbs hypoplastic with bulbous tips","obsolete":false,"parents":["HP:0009778"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short thumbs with bulbous tips"}]} +{"alt_ids":[],"definition":"An abnormal irregularity of cortical bone.","id":"HP:0005731","name":"Cortical irregularity","obsolete":false,"parents":["HP:0003103"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004597"],"definition":"An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging).","id":"HP:0005733","name":"Spinal stenosis with reduced interpedicular distance","obsolete":false,"parents":["HP:0003416"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spinal stenosis due to short pedicles"}]} 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growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature.","id":"HP:0005743","name":"Avascular necrosis of the capital femoral epiphysis","obsolete":false,"parents":["HP:0010574","HP:0100323"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Coxa plana"},{"scope":"RELATED","text":"Legg-Calve-Perthes syndrome"},{"scope":"RELATED","text":"Legg-Perthes disease"},{"scope":"RELATED","text":"Morbus Legg-Calve-Perthes"},{"scope":"EXACT","text":"Osteochondrosis of the femoral head"},{"scope":"EXACT","text":"Osteonecrosis of the femoral head"},{"scope":"EXACT","text":"Perthes-like femoral head changes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005744","name":"obsolete Generalized osteoporosis with pathologic fractures","obsolete":true,"parents":[],"replaced_by":["HP:0040160"],"synonyms":[]} 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the shankbone"},{"scope":"EXACT","text":"Disproportionate shortening of the shinbone"},{"scope":"EXACT","text":"Marked shortening of tibia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005767","name":"1-2 toe complete cutaneous syndactyly","obsolete":false,"parents":["HP:0010621"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4.","id":"HP:0005768","name":"2-4 toe cutaneous syndactyly","obsolete":false,"parents":["HP:0010621"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Soft tissue syndactyly of toes 2, 3, and 4"},{"scope":"EXACT","text":"Webbed 2nd, 3rd and 4th toes"},{"scope":"EXACT","text":"Webbed second, third and fourth toes"}]} +{"alt_ids":[],"definition":"Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger).","id":"HP:0005769","name":"Fifth finger distal phalanx 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forearm.","id":"HP:0005773","name":"Short forearm","obsolete":false,"parents":["HP:0009821"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplasia of both radius and ulna"},{"scope":"EXACT","text":"Short forearm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005775","name":"Multiple skeletal anomalies","obsolete":false,"parents":["HP:0002652"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005776","name":"Carpal bone malsegmentation","obsolete":false,"parents":["HP:0001191"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the distal interphalangeal flexion creases of the fourth finger.","id":"HP:0005780","name":"Absent fourth finger distal interphalangeal crease","obsolete":false,"parents":["HP:0001032"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"No fourth finger distal interphalangeal crease"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005781","name":"Contractures of the large 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delay in skeletal maturation whose degree differs markedly in different bones.","id":"HP:0005832","name":"Dysharmonic delayed bone age","obsolete":false,"parents":["HP:0002750","HP:0200000"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005833","name":"obsolete Joint swelling onset late infancy","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005834","name":"obsolete Thumbs hypo/aplastic","obsolete":true,"parents":[],"replaced_by":["HP:0009658"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005837","name":"obsolete Joint dislocations in young adult","obsolete":true,"parents":[],"replaced_by":["HP:0001373"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005841","name":"Calcific stippling of infantile cartilaginous skeleton","obsolete":false,"parents":["HP:0003336"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally round shape of the middle phalanx of the 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+{"alt_ids":[],"definition":null,"id":"HP:0005853","name":"Congenital foot contraction deformities","obsolete":false,"parents":["HP:0002803"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002811","HP:0005761"],"definition":"The presence of bone fractures in the prenatal period that are diagnosed at birth or before.","id":"HP:0005855","name":"Multiple prenatal fractures","obsolete":false,"parents":["HP:0002659"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital bone fractures"},{"scope":"EXACT","text":"Multiple fractures present at birth"},{"scope":"EXACT","text":"Multiple fractures, present at birth"},{"scope":"EXACT","text":"Numerous multiple fractures present at birth"},{"scope":"EXACT","text":"Numerous multiple fractures that are present at birth"}]} +{"alt_ids":[],"definition":"A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction.","id":"HP:0005856","name":"Ulnar radial head 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that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins.","id":"HP:0005868","name":"Metaphyseal enchondromatosis","obsolete":false,"parents":["HP:0000944"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006377"],"definition":"An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.","id":"HP:0005871","name":"Metaphyseal chondrodysplasia","obsolete":false,"parents":["HP:0100255"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005777","HP:0006093"],"definition":"Disproportionately short middle and distal phalanges compared to the hand/foot.","id":"HP:0005872","name":"Brachytelomesophalangy","obsolete":false,"parents":["HP:0001156"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Progressive brachydactyly of middle and distal phalanges"},{"scope":"EXACT","text":"Short middle and distal phalanges 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more than the normal number of metacarpal bones.","id":"HP:0005917","name":"Supernumerary metacarpal bones","obsolete":false,"parents":["HP:0005916"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extra long bones of hand"}]} +{"alt_ids":["HP:0005786","HP:0006259"],"definition":"Abnormalities affecting the phalanx of finger.","id":"HP:0005918","name":"Abnormal finger phalanx morphology","obsolete":false,"parents":["HP:0001167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal form of phalanges of the hand"},{"scope":"EXACT","text":"Abnormality of phalanx of finger"},{"scope":"EXACT","text":"Abnormality of the finger bones"},{"scope":"EXACT","text":"Abnormality of the phalanges"},{"scope":"EXACT","text":"Abnormality of the phalanges of the hand"}]} +{"alt_ids":["HP:0009151"],"definition":"Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).","id":"HP:0005920","name":"Abnormal epiphysis morphology of the phalanges of the hand","obsolete":false,"parents":["HP:0005918","HP:0005924"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005921","name":"obsolete Abnormal ossification of hand bones","obsolete":true,"parents":[],"replaced_by":["HP:0010660"],"synonyms":[]} +{"alt_ids":["HP:0003098"],"definition":"Any structural anomaly of the hand.","id":"HP:0005922","name":"Abnormal hand morphology","obsolete":false,"parents":["HP:0001155"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of hand"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005923","name":"Abnormal hand metaphysis morphology","obsolete":false,"parents":["HP:0005922","HP:0009809"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormalities of the metaphyses of the hand"},{"scope":"EXACT","text":"Abnormality of the wide portion of the hand bone"}]} +{"alt_ids":[],"definition":"Any abnormality of the epiphyses of the phalanges or metacarpal bones.","id":"HP:0005924","name":"Abnormal hand epiphysis morphology","obsolete":false,"parents":["HP:0003839","HP:0005922"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the hand bone"},{"scope":"EXACT","text":"Abnormality of the end part of the hand bones"},{"scope":"EXACT","text":"Abnormality of the epiphyses of the fingers"},{"scope":"EXACT","text":"Abnormality of the epiphyses of the hand"},{"scope":"EXACT","text":"Abnormality of the epiphyses of the phalanges of the hand"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005925","name":"Abnormal hand diaphysis morphology","obsolete":false,"parents":["HP:0005922","HP:0009808"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormalities of shaft of long bone of the hand"},{"scope":"EXACT","text":"Abnormalities of the diaphyses of the hand"}]} +{"alt_ids":[],"definition":"An anomaly of the outer shell (cortex) of a hand bone.","id":"HP:0005926","name":"Abnormal hand cortical bone morphology","obsolete":false,"parents":["HP:0003103","HP:0005922"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of hand cortical bone"},{"scope":"EXACT","text":"Abnormality of the cortex of hand bones"}]} +{"alt_ids":[],"definition":"Absence (due to failure to form) or underdevelopment of the bones of the hand.","id":"HP:0005927","name":"Aplasia/hypoplasia involving bones of the hand","obsolete":false,"parents":["HP:0005922","HP:0006496"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small hand bones"},{"scope":"EXACT","text":"Absent/underdeveloped hand bones"},{"scope":"EXACT","text":"Hypoplasia/absence of hand bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005928","name":"Synostosis involving the fibula","obsolete":false,"parents":["HP:0002991","HP:0009138"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bone fusion involving the calf bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005929","name":"Synostosis involving the tibia","obsolete":false,"parents":["HP:0002992","HP:0009138"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bone fusion involving the shinbone"}]} +{"alt_ids":["HP:0000936"],"definition":"An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.","id":"HP:0005930","name":"Abnormal epiphysis morphology","obsolete":false,"parents":["HP:0011314"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of end part of bone"},{"scope":"EXACT","text":"Abnormality of epiphysis morphology"},{"scope":"EXACT","text":"Abnormality of the epiphyses"},{"scope":"EXACT","text":"Anomaly of the epiphyses"},{"scope":"EXACT","text":"Epiphyseal abnormality"}]} +{"alt_ids":[],"definition":"An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla.","id":"HP:0005932","name":"Abnormal renal corticomedullary differentiation","obsolete":false,"parents":["HP:0011035","HP:0100957"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005934","name":"Imperfect vocal cord adduction","obsolete":false,"parents":["HP:0031801"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal arrangement of the structures of the motile cilium.","id":"HP:0005938","name":"Abnormal respiratory motile cilium morphology","obsolete":false,"parents":["HP:0012253"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005939","name":"Multiple bilateral pneumothoraces","obsolete":false,"parents":["HP:0002107"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005941","name":"Intermittent hyperpnea at rest","obsolete":false,"parents":["HP:0004879"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Diffuse filling of the distal airspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickened alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present.","id":"HP:0005942","name":"Desquamative interstitial pneumonitis","obsolete":false,"parents":["HP:0006530"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Filling of the alveoli with alveolar macrophages"},{"scope":"RELATED","text":"Filling of the alveoli with desquamated epithelial cells"},{"scope":"RELATED","text":"Intra-alveolar accumulation of macrophages"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005943","name":"Respiratory arrest","obsolete":false,"parents":["HP:0002093"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Breathing cessation"}]} +{"alt_ids":["HP:0006550"],"definition":"Bilateral lack of development of the lungs.","id":"HP:0005944","name":"Bilateral lung agenesis","obsolete":false,"parents":["HP:0006703"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent lungs"},{"scope":"EXACT","text":"Bilateral pulmonary agenesis"}]} +{"alt_ids":[],"definition":"Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress.","id":"HP:0005945","name":"Laryngeal obstruction","obsolete":false,"parents":["HP:0025423"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005946","name":"Ventilator dependence with inability to wean","obsolete":false,"parents":["HP:0004887"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration.","id":"HP:0005947","name":"Decreased sensitivity to hypoxemia","obsolete":false,"parents":["HP:0005957"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased sensitivity to hypoxaemia"},{"scope":"EXACT","text":"Decreased sensitivity to hypoxemia"}]} +{"alt_ids":[],"definition":"The presence of multiple lung cysts.","id":"HP:0005948","name":"Multiple pulmonary cysts","obsolete":false,"parents":["HP:0032445"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cystic lung disease"},{"scope":"EXACT","text":"Multiple lung cysts"}]} +{"alt_ids":[],"definition":"Recurrent episodes of apnea occurring during infancy.","id":"HP:0005949","name":"Apneic episodes in infancy","obsolete":false,"parents":["HP:0002104"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.","id":"HP:0005950","name":"Laryngeal web","obsolete":false,"parents":["HP:0025423"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Glottic web"},{"scope":"EXACT","text":"Laryngeal webs"},{"scope":"EXACT","text":"Partial laryngeal atresia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005951","name":"Progressive inspiratory stridor","obsolete":false,"parents":["HP:0005348"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005952","name":"obsolete Decreased pulmonary function","obsolete":true,"parents":[],"replaced_by":["HP:0002795"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005954","name":"Pulmonary capillary hemangiomatosis","obsolete":false,"parents":["HP:0004930","HP:0005306","HP:0007461"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pulmonary hemangiomas"}]} +{"alt_ids":[],"definition":"Abnormal shortening of the larynx in the anteroposterior (front to back) axis.","id":"HP:0005956","name":"Anteroposteriorly shortened larynx","obsolete":false,"parents":["HP:0025423"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005957","name":"Breathing dysregulation","obsolete":false,"parents":["HP:0002795"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An impairment of gluconeogenesis.","id":"HP:0005959","name":"Impaired gluconeogenesis","obsolete":false,"parents":["HP:0011014"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gluconeogenesis impaired"}]} +{"alt_ids":[],"definition":"The concentration of arginine in the blood circulation is below the lower limit of normal.","id":"HP:0005961","name":"Hypoargininemia","obsolete":false,"parents":["HP:0010909"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Arginine deficiency"},{"scope":"EXACT","text":"Decreased arginine concentration"},{"scope":"EXACT","text":"Decreased arginine level"},{"scope":"EXACT","text":"Decreased arginine level in blood"},{"scope":"EXACT","text":"Low blood arginine levels"},{"scope":"EXACT","text":"Reduced arginine concentration"},{"scope":"EXACT","text":"Reduced arginine level"},{"scope":"EXACT","text":"Reduced arginine level in blood"}]} +{"alt_ids":["HP:0005970"],"definition":"Episodes of reduced body temperature.","id":"HP:0005964","name":"Intermittent hypothermia","obsolete":false,"parents":["HP:0002045"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intermittent abnormally low body temperature"},{"scope":"EXACT","text":"Intermittent hypothermia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005967","name":"Mixed respiratory and metabolic acidosis","obsolete":false,"parents":["HP:0001942"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature.","id":"HP:0005968","name":"Temperature instability","obsolete":false,"parents":["HP:0004370"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Body temperature instability"},{"scope":"EXACT","text":"Temperature instability"}]} +{"alt_ids":[],"definition":"Acidosis because of respiratory retention of carbon dioxide.","id":"HP:0005972","name":"Respiratory acidosis","obsolete":false,"parents":["HP:0001941"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced intestinal absorption of fructose. Breath testing after ingestion of fructose has been widely adopted as a standard method of identifying fructose malabsorption and intolerance. A dose of 25 g of fructose dissolved in a 10% solution is generally accepted as the appropriate dose of fructose for clinical use of H2 and CH4 breath testing. High levels of hydrogen in exhaled breath subsequent hours indicate fructose intolerance. Presence of malabsorption and reproduction of symptoms during a breath test provides the best objective evidence and symptom correlation for fructose intolerance.","id":"HP:0005973","name":"Fructose intolerance","obsolete":false,"parents":["HP:0011033"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fructose malabsorption"}]} +{"alt_ids":["HP:0005981","HP:0005983"],"definition":"Intermittent episodes of ketoacidosis.","id":"HP:0005974","name":"Episodic ketoacidosis","obsolete":false,"parents":["HP:0001993"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ketoacidosis, episodic"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005976","name":"Hyperkalemic metabolic acidosis","obsolete":false,"parents":["HP:0001942"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005977","name":"Hypochloremic metabolic alkalosis","obsolete":false,"parents":["HP:0001948"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005965","HP:0100652"],"definition":"A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.","id":"HP:0005978","name":"Type II diabetes mellitus","obsolete":false,"parents":["HP:0000819"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Diabetes mellitus Type II"},{"scope":"RELATED","text":"Diabetes mellitus type 2"},{"scope":"EXACT","text":"Diabetes mellitus, noninsulin-dependent"},{"scope":"EXACT","text":"NIDDM"},{"scope":"EXACT","text":"NIDDM diabetes mellitus"},{"scope":"EXACT","text":"Non-insulin dependent diabetes"},{"scope":"EXACT","text":"Noninsulin dependent diabetes mellitus"},{"scope":"EXACT","text":"Noninsulin-dependent diabetes"},{"scope":"RELATED","text":"Noninsulin-dependent diabetes mellitus"},{"scope":"EXACT","text":"Type 2 diabetes"},{"scope":"EXACT","text":"Type II diabetes"}]} +{"alt_ids":["HP:0005971"],"definition":"A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake.","id":"HP:0005979","name":"Metabolic ketoacidosis","obsolete":false,"parents":["HP:0001942","HP:0001993"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Starvation ketoacidosis"}]} +{"alt_ids":[],"definition":"A reduction in phenylalanine 4-monooxygenase level.","id":"HP:0005982","name":"Reduced phenylalanine hydroxylase level","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Phenylalanine hydroxylase deficiency"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005984","name":"obsolete Elevated maternal serum alpha-fetoprotein","obsolete":true,"parents":[],"replaced_by":["HP:0011432"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0005986","name":"Limitation of neck motion","obsolete":false,"parents":["HP:0025669"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Limitation of neck motion"},{"scope":"BROAD","text":"Limited neck mobility"},{"scope":"EXACT","text":"Restricted neck movement"}]} +{"alt_ids":[],"definition":"Enlargement of the thyroid gland related to multiple nodules in the thyroid gland.","id":"HP:0005987","name":"Multinodular goiter","obsolete":false,"parents":["HP:0005994"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multinodular goitre"}]} +{"alt_ids":[],"definition":"A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending.","id":"HP:0005988","name":"Congenital muscular torticollis","obsolete":false,"parents":["HP:0011006"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Torticollis, congenital"}]} +{"alt_ids":["HP:0005993","HP:0005996"],"definition":"Excess skin around the neck, often lying in horizontal folds.","id":"HP:0005989","name":"Redundant neck skin","obsolete":false,"parents":["HP:0001582","HP:0025668"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excess neck skin"},{"scope":"EXACT","text":"Excess skin over the neck"},{"scope":"EXACT","text":"Excessive nuchal skin"},{"scope":"EXACT","text":"Redundant neck skin"},{"scope":"EXACT","text":"Redundant nuchal skin"},{"scope":"EXACT","text":"Redundant skin folds of neck"},{"scope":"EXACT","text":"Redundant skin over the neck"}]} +{"alt_ids":[],"definition":"Developmental hypoplasia of the thyroid gland.","id":"HP:0005990","name":"Thyroid hypoplasia","obsolete":false,"parents":["HP:0033079"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic thyroid"},{"scope":"EXACT","text":"Small thyroid gland"}]} +{"alt_ids":[],"definition":"Reduced ability to lower the chin towards the chest by bending the neck.","id":"HP:0005991","name":"Limited neck flexion","obsolete":false,"parents":["HP:0005986"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Limited cervical flexion"},{"scope":"EXACT","text":"Limited neck flexibility"}]} +{"alt_ids":[],"definition":"Enlargement of the thyroid gland related to one or more nodules in the thyroid gland.","id":"HP:0005994","name":"Nodular goiter","obsolete":false,"parents":["HP:0000853"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nodular goitre"}]} +{"alt_ids":[],"definition":"Reduced amount of adipose tissue in the region of the neck.","id":"HP:0005995","name":"Decreased adipose tissue around neck","obsolete":false,"parents":["HP:0003758"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Loss of adipose tissue around the neck"},{"scope":"EXACT","text":"Loss of fat around neck"}]} +{"alt_ids":[],"definition":null,"id":"HP:0005997","name":"Neck joint contracture","obsolete":false,"parents":["HP:0005986","HP:0034392"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Restricted neck mobility due to contractures"},{"scope":"EXACT","text":"Restricted neck movement due to contractures"}]} +{"alt_ids":[],"definition":"A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter.","id":"HP:0005999","name":"Ureteral atresia","obsolete":false,"parents":["HP:0025633"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Obstruction of the flow of urine through the ureter.","id":"HP:0006000","name":"Ureteral obstruction","obsolete":false,"parents":["HP:0025634"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006006","name":"Hypotrophy of the small hand muscles","obsolete":false,"parents":["HP:0001421"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Degeneration of small hand muscles"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006008","name":"Unilateral brachydactyly","obsolete":false,"parents":["HP:0001156"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Short digits on one side"}]} +{"alt_ids":["HP:0006030","HP:0006249"],"definition":"Increased side-to-side width of one or more phalanges of the fingers or toes.","id":"HP:0006009","name":"Broad phalanx","obsolete":false,"parents":["HP:0005622","HP:0011297"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad phalanges"},{"scope":"EXACT","text":"Wide digital bones"},{"scope":"EXACT","text":"Wide phalanges"},{"scope":"EXACT","text":"Widened phalanges"}]} +{"alt_ids":[],"definition":"Severely shortened metacarpal with a cuboidal appearance.","id":"HP:0006011","name":"Cuboidal metacarpal","obsolete":false,"parents":["HP:0010049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short, cube shaped long bone of hand"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006012","name":"Widened metacarpal shaft","obsolete":false,"parents":["HP:0005916"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad shaft of long bone of hand"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006014","name":"Abnormally shaped carpal bones","obsolete":false,"parents":["HP:0001191"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormally shaped wrist bones"}]} +{"alt_ids":[],"definition":"Delay in the process of formation and maturation of the epiphysis of one or more phalanx.","id":"HP:0006016","name":"Delayed phalangeal epiphyseal ossification","obsolete":false,"parents":["HP:0002663"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Delayed bone maturation of end part of digital bone"},{"scope":"EXACT","text":"Delayed phalangeal epiphyseal bone maturation"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006019","name":"Reduced proximal interphalangeal joint space","obsolete":false,"parents":["HP:0006261"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased space in hinge joint"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006026","name":"Rounded epiphyses","obsolete":false,"parents":["HP:0005924"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rounded end part of bone"}]} +{"alt_ids":["HP:0006131"],"definition":"Metaphyseal cupping affecting the metacarpal bones.","id":"HP:0006028","name":"Metaphyseal cupping of metacarpals","obsolete":false,"parents":["HP:0003021"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cupping of wide portion of long bone of hand"},{"scope":"EXACT","text":"Metacarpal/metaphyseal cupping"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006035","name":"Cone-shaped epiphyses of phalanges 2 to 5","obsolete":false,"parents":["HP:0010230"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of digital bones 2 to 5"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006040","name":"Long second metacarpal","obsolete":false,"parents":["HP:0010036"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Long 2nd long bone of hand"}]} +{"alt_ids":[],"definition":"Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly.","id":"HP:0006042","name":"Y-shaped metacarpals","obsolete":false,"parents":["HP:0005916"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Y-shaped long bone of hand"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006045","name":"Short pointed phalanges","obsolete":false,"parents":["HP:0009803"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short pointed digital bones"}]} +{"alt_ids":[],"definition":"Abnormal increase in width of the distal region of the metacarpal bones.","id":"HP:0006048","name":"Distal widening of metacarpals","obsolete":false,"parents":["HP:0005916"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide outermost end of long bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006051","name":"Metacarpal periosteal thickening","obsolete":false,"parents":["HP:0005916","HP:0030313"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006055","name":"Ulnar deviated club hands","obsolete":false,"parents":["HP:0009487"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones.","id":"HP:0006059","name":"Cone-shaped metacarpal epiphyses","obsolete":false,"parents":["HP:0005913","HP:0010579"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of long bone"},{"scope":"RELATED","text":"Metacarpal cone-shaped epiphyses"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006060","name":"Tombstone-shaped proximal phalanges","obsolete":false,"parents":["HP:0009834"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tombstone-shaped innermost digital bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006064","name":"Limited interphalangeal movement","obsolete":false,"parents":["HP:0001376","HP:0006261"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Limited movement of hinge joints"}]} +{"alt_ids":[],"definition":"A delay in the process of formation and maturation of the epiphysis of one or more long bones.","id":"HP:0006067","name":"Multiple carpal ossification centers","obsolete":false,"parents":["HP:0006257"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multiple carpal ossification centres"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006069","name":"obsolete Severe carpal ossification delay","obsolete":true,"parents":[],"replaced_by":["HP:0001216"],"synonyms":[]} +{"alt_ids":["HP:0005674"],"definition":"A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.","id":"HP:0006070","name":"Metacarpophalangeal joint contracture","obsolete":false,"parents":["HP:0011911"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Metacarpal/phalangeal joint contractures"}]} +{"alt_ids":[],"definition":"Absence of the proximal interphalangeal flexion creases of the fingers.","id":"HP:0006077","name":"Absent proximal finger flexion creases","obsolete":false,"parents":["HP:0006109"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006086","name":"Thin metacarpal cortices","obsolete":false,"parents":["HP:0005916"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006088","name":"1-5 finger complete cutaneous syndactyly","obsolete":false,"parents":["HP:0010554"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006089","name":"Palmar hyperhidrosis","obsolete":false,"parents":["HP:0000975","HP:0040211"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excessive sweating of hands"}]} +{"alt_ids":[],"definition":"Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna).","id":"HP:0006092","name":"Malaligned carpal bone","obsolete":false,"parents":["HP:0001191"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Incorrect alignment of wrist bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006094","name":"Finger joint hypermobility","obsolete":false,"parents":["HP:0001167","HP:0006256","HP:0430046"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased mobility in finger joint"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006095","name":"Wide tufts of distal phalanges","obsolete":false,"parents":["HP:0006200"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide tips of outermost digital bone"}]} +{"alt_ids":["HP:0006133"],"definition":"Fusion of the third (middle) and fourth (ring) finger, involving soft parts and including fusion of individual finger bones.","id":"HP:0006097","name":"3-4 finger osseus syndactyly","obsolete":false,"parents":["HP:0010492"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial or complete syndactyly 3rd-4th fingers"},{"scope":"EXACT","text":"Webbed 3rd-4th finger"},{"scope":"EXACT","text":"Webbed 3rd-4th fingers"}]} +{"alt_ids":[],"definition":"Increased mobility of one ore more metacarpophalangeal joint.","id":"HP:0006099","name":"Metacarpophalangeal joint hyperextensibility","obsolete":false,"parents":["HP:0011911"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006057"],"definition":"Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \"Symphalangism\".","id":"HP:0006101","name":"Finger syndactyly","obsolete":false,"parents":["HP:0001159"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial syndactyly"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006106","name":"Absent trapezoid bone","obsolete":false,"parents":["HP:0004256"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006246"],"definition":"Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers.","id":"HP:0006107","name":"Fingerpad telangiectases","obsolete":false,"parents":["HP:0100585"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Finger pad telangiectases"},{"scope":"EXACT","text":"Small dilated blood vessels in fingerpads"}]} +{"alt_ids":[],"definition":"Metacarpal that becomes thinner toward the distal end.","id":"HP:0006108","name":"Tapered metacarpals","obsolete":false,"parents":["HP:0005916"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tapered long bones of hand"}]} +{"alt_ids":["HP:0006031"],"definition":"Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers).","id":"HP:0006109","name":"Absent phalangeal crease","obsolete":false,"parents":["HP:0006143"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent interphalangeal creases"},{"scope":"RELATED","text":"Aplasia of the interphalangeal creases"}]} +{"alt_ids":[],"definition":"Short, hypoplastic middle phalanx of finger, affecting all fingers.","id":"HP:0006110","name":"Shortening of all middle phalanges of the fingers","obsolete":false,"parents":["HP:0005819"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006112","name":"Expanded phalanges with widened medullary cavities","obsolete":false,"parents":["HP:0009768"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease).","id":"HP:0006114","name":"Multiple palmar creases","obsolete":false,"parents":["HP:0010490"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multiple palm lines"}]} +{"alt_ids":["HP:0005658"],"definition":"Hypoplasia of all of the distal phalanx of finger.","id":"HP:0006118","name":"Shortening of all distal phalanges of the fingers","obsolete":false,"parents":["HP:0009882"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Brachytelephalangy"},{"scope":"EXACT","text":"Shortening of all outermost bones of the fingers"}]} +{"alt_ids":[],"definition":"Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance.","id":"HP:0006119","name":"Proximal tapering of metacarpals","obsolete":false,"parents":["HP:0005916"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pointed innermost long bone of hand"},{"scope":"EXACT","text":"Pointed proximal metacarpals"}]} +{"alt_ids":["HP:0001226","HP:0001862","HP:0005040"],"definition":"A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe.","id":"HP:0006121","name":"Acral ulceration","obsolete":false,"parents":["HP:0031917"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased length of the proximal phalanx of finger.","id":"HP:0006127","name":"Long proximal phalanx of finger","obsolete":false,"parents":["HP:0006155","HP:0009834"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Long innermost finger bone"}]} +{"alt_ids":[],"definition":"Rounding and broadening of the tufts of the distal phalanges.","id":"HP:0006129","name":"Drumstick terminal phalanges","obsolete":false,"parents":["HP:0009832"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Drumstick shaped digital bones"}]} +{"alt_ids":[],"definition":"Abnormally large size of one or more growth plates (epiphyses) of the metacarpal bones (i.e., the tubular bones of the hand between the carpus and the phalanges).","id":"HP:0006134","name":"Enlarged metacarpal epiphyses","obsolete":false,"parents":["HP:0005913","HP:0010580"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of long bone of hand"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006135","name":"Decreased finger mobility","obsolete":false,"parents":["HP:0006256"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased finger mobility"},{"scope":"EXACT","text":"Decreased finger movement"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006136","name":"Bilateral postaxial polydactyly","obsolete":false,"parents":["HP:0001162"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth.","id":"HP:0006140","name":"Premature fusion of phalangeal epiphyses","obsolete":false,"parents":["HP:0005920","HP:0010656"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Premature fusion of end part of digital bone"}]} +{"alt_ids":[],"definition":"Anomalous flexion crease (i.e., a transverse line that crosses the skin of a finger).","id":"HP:0006143","name":"Abnormal finger flexion crease","obsolete":false,"parents":["HP:0001167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal finger flexion creases"}]} +{"alt_ids":["HP:0006021"],"definition":"Congenital hypoplasia of proximal phalanx of finger or all fingers.","id":"HP:0006144","name":"Shortening of all proximal phalanges of the fingers","obsolete":false,"parents":["HP:0010241"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Shortening of all innermost bones of the fingers"}]} +{"alt_ids":[],"definition":"A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal.","id":"HP:0006145","name":"Central Y-shaped metacarpal","obsolete":false,"parents":["HP:0006042"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Y-shaped central long bones of hand"}]} +{"alt_ids":[],"definition":"Increased side-to-side width of the metacarpal epiphyses.","id":"HP:0006146","name":"Broad metacarpal epiphyses","obsolete":false,"parents":["HP:0005913"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad end part of long bone of hand"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006147","name":"Progressive fusion 2nd-5th proximal interphalangeal joints","obsolete":false,"parents":["HP:0009700"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006149","name":"Increased laxity of fingers","obsolete":false,"parents":["HP:0006094"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke.","id":"HP:0006150","name":"Swan neck-like deformities of the fingers","obsolete":false,"parents":["HP:0001167"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006005","HP:0009857","HP:0009873"],"definition":"The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases.","id":"HP:0006152","name":"Proximal finger symphalangism","obsolete":false,"parents":["HP:0009700","HP:0100264"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused innermost hinge joints"},{"scope":"EXACT","text":"Proximal interphalangeal joint synostoses"},{"scope":"EXACT","text":"Proximal symphalangism of hands"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006153","name":"obsolete Disharmonious carpal bone","obsolete":true,"parents":[],"replaced_by":["HP:0006257"],"synonyms":[]} +{"alt_ids":[],"definition":"Increased length of multiple or a single phalanx of finger.","id":"HP:0006155","name":"Long phalanx of finger","obsolete":false,"parents":["HP:0005918"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Long finger bone"}]} +{"alt_ids":[],"definition":"Bending or curvature of a thumb towards the ulnar side (towards the ring finger).","id":"HP:0006156","name":"Ulnar deviation of thumb","obsolete":false,"parents":["HP:0009465","HP:0009603"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Curved thumb deviated towards palm"},{"scope":"EXACT","text":"Ulnar deviation of the 1st finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006157","name":"Prominent palmar flexion creases","obsolete":false,"parents":["HP:0010490"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Prominent life line"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006158","name":"obsolete Finger joint hyperextensibility","obsolete":true,"parents":[],"replaced_by":["HP:0001187"],"synonyms":[]} +{"alt_ids":["HP:0001496","HP:0004056"],"definition":"The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly.","id":"HP:0006159","name":"Mesoaxial hand polydactyly","obsolete":false,"parents":["HP:0001161","HP:0100260"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Central hand polydactyly"},{"scope":"EXACT","text":"Interdigital finger polydactyly"}]} +{"alt_ids":[],"definition":"Irregular morphology of one or more metacarpal bones.","id":"HP:0006160","name":"Irregular metacarpals","obsolete":false,"parents":["HP:0005916"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular long bones of hand"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006161","name":"Short metacarpals with rounded proximal ends","obsolete":false,"parents":["HP:0010049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short long bone of hand with rounded innermost ends"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006162","name":"Soft tissue swelling of interphalangeal joints","obsolete":false,"parents":["HP:0006261"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Soft tissue swelling of hinge joints"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006163","name":"Enlarged metacarpophalangeal joints","obsolete":false,"parents":["HP:0006261"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006165","name":"Proportionate shortening of all digits","obsolete":false,"parents":["HP:0006265"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Proportionate shortening of all digits"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006166","name":"Tubular metacarpal bones","obsolete":false,"parents":["HP:0005916"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cylindrical shaped long bones of hand"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006167","name":"Prominent proximal interphalangeal joints","obsolete":false,"parents":["HP:0006237"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prominent innermost hinge joints"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006169","name":"Decreased mobility 3rd-5th fingers","obsolete":false,"parents":["HP:0006135"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased mobility 3rd-5th fingers"}]} +{"alt_ids":[],"definition":"A morphological abnormality of distal phalanges such that they have the appearance of chess pawns.","id":"HP:0006170","name":"Chess-pawn distal phalanges","obsolete":false,"parents":["HP:0009832"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chess-pawn shaped outermost bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006172","name":"Flattened, squared-off epiphyses of tubular bones","obsolete":false,"parents":["HP:0003053","HP:0003071"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flattened, squared-off end part of tubular bones"}]} +{"alt_ids":[],"definition":"Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone.","id":"HP:0006174","name":"Metacarpal diaphyseal endosteal sclerosis","obsolete":false,"parents":["HP:0005916","HP:0011001"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006175","name":"Proximal phalangeal periosteal thickening","obsolete":false,"parents":["HP:0009834","HP:0030313"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Thickening of connective tissue of innermost finger bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006176","name":"Two carpal ossification centers present at birth","obsolete":false,"parents":["HP:0006257"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Two carpal ossification centres present at birth"}]} +{"alt_ids":["HP:0010221"],"definition":null,"id":"HP:0006179","name":"Pseudoepiphyses of second metacarpal","obsolete":false,"parents":["HP:0009193","HP:0010220"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extra bone on end of second long bone of hand"},{"scope":"EXACT","text":"Pseudoepiphysis of the 2nd metacarpal"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006180","name":"Crowded carpal bones","obsolete":false,"parents":["HP:0001191"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Crowded wrist bones"}]} +{"alt_ids":["HP:0006178"],"definition":"Poorly defined or shallow palmar creases.","id":"HP:0006184","name":"Decreased palmar creases","obsolete":false,"parents":["HP:0010488"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic palmar creases"},{"scope":"EXACT","text":"Poorly formed palmar creases"},{"scope":"EXACT","text":"Shallow palm line"},{"scope":"EXACT","text":"Shallow palmar creases"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006185","name":"Enlarged proximal interphalangeal joints","obsolete":false,"parents":["HP:0006247"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged innermost hinge joint"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006187","name":"obsolete Fusion of midphalangeal joints","obsolete":true,"parents":[],"replaced_by":["HP:0009700"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006189","name":"Prominent interdigital folds","obsolete":false,"parents":["HP:0001018"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006190","name":"Radially deviated wrists","obsolete":false,"parents":["HP:0009486"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excessively deep creases of the palm.","id":"HP:0006191","name":"Deep palmar crease","obsolete":false,"parents":["HP:0010490"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deep palm line"},{"scope":"EXACT","text":"Deep palmar creases"}]} +{"alt_ids":[],"definition":"Phalanges of the fingers becoming thinner toward the distal end.","id":"HP:0006192","name":"Tapered phalanx of finger","obsolete":false,"parents":["HP:0005918"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tapered finger bone"}]} +{"alt_ids":[],"definition":"The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat.","id":"HP:0006193","name":"Thimble-shaped middle phalanges of hand","obsolete":false,"parents":["HP:0009833"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thimble-shaped middle bones of hand"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006200","name":"Widened distal phalanges","obsolete":false,"parents":["HP:0006009"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Widened outermost bone of limb"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006201","name":"Hypermobility of distal interphalangeal joints","obsolete":false,"parents":["HP:0005620"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased mobility of outermost hinge joint"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006202","name":"Osteolysis of scaphoids","obsolete":false,"parents":["HP:0004243","HP:0009699"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006203","name":"Decreased movement range in interphalangeal joints","obsolete":false,"parents":["HP:0001376","HP:0006135"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased range of movement range in hinge joints"}]} +{"alt_ids":[],"definition":"Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance.","id":"HP:0006205","name":"Irregular phalanges","obsolete":false,"parents":["HP:0005918"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular finger bones"}]} +{"alt_ids":[],"definition":"Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger.","id":"HP:0006206","name":"Hypersegmentation of proximal phalanx of second finger","obsolete":false,"parents":["HP:0009544"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006207","name":"Partial fusion of carpals","obsolete":false,"parents":["HP:0009702"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Metaphyseal cupping affecting the proximal phalanges.","id":"HP:0006208","name":"Metaphyseal cupping of proximal phalanges","obsolete":false,"parents":["HP:0003021"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006209","name":"Partial-complete absence of 5th phalanges","obsolete":false,"parents":["HP:0006262"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial-complete absence of 5th digital bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006210","name":"Postaxial oligodactyly","obsolete":false,"parents":["HP:0009380"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006213","name":"Thin proximal phalanges with broad epiphyses of the hand","obsolete":false,"parents":["HP:0005920","HP:0009834"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thin innermost bone with broad end part of the hand bone"},{"scope":"BROAD","text":"Thin proximal phalanges with broad epiphyses"}]} +{"alt_ids":["HP:0006245"],"definition":"Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger.","id":"HP:0006216","name":"Single interphalangeal crease of fifth finger","obsolete":false,"parents":["HP:0006109"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fifth finger single interphalangeal crease"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006217","name":"Limited mobility of proximal interphalangeal joint","obsolete":false,"parents":["HP:0006261"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Limited mobility of innermost hinge joint"}]} +{"alt_ids":[],"definition":"A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms).","id":"HP:0006224","name":"Tapering pointed ends of distal finger phalanges","obsolete":false,"parents":["HP:0009884"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006226","name":"Osteoarthritis of the first carpometacarpal joint","obsolete":false,"parents":["HP:0004268"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006228","name":"Valgus hand deformity","obsolete":false,"parents":["HP:0005922"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006230","name":"Unilateral 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of innermost hinge joints"}]} +{"alt_ids":[],"definition":"The concentration of alpha-fetoprotein in the blood circulation is above the upper limit of normal.","id":"HP:0006254","name":"Elevated circulating alpha-fetoprotein concentration","obsolete":false,"parents":["HP:0045056"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Alpha fetoprotein abnormal"},{"scope":"EXACT","text":"Elevated alpha-fetoprotein concentration"},{"scope":"EXACT","text":"Elevated alpha-fetoprotein level"},{"scope":"EXACT","text":"Elevated alpha-fetoprotein level in blood"},{"scope":"EXACT","text":"Increased alpha-fetoprotein concentration"},{"scope":"EXACT","text":"Increased alpha-fetoprotein level"},{"scope":"EXACT","text":"Increased alpha-fetoprotein level in blood"},{"scope":"EXACT","text":"Increased levels of alpha fetoprotein"},{"scope":"EXACT","text":"Increased serum alpha-fetoprotein"},{"scope":"EXACT","text":"Serum alpha-fetoprotein increased"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006256","name":"Abnormality of hand joint mobility","obsolete":false,"parents":["HP:0001155","HP:0011729"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of hand joint mobility"}]} +{"alt_ids":["HP:0006153"],"definition":null,"id":"HP:0006257","name":"Abnormality of carpal bone ossification","obsolete":false,"parents":["HP:0001191","HP:0010660"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal wrist bone maturation"}]} +{"alt_ids":["HP:0004266"],"definition":null,"id":"HP:0006261","name":"Abnormal phalangeal joint morphology of the hand","obsolete":false,"parents":["HP:0005918"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of phalangeal joints of the hand"},{"scope":"EXACT","text":"Abnormality of the small joints of the hand"}]} +{"alt_ids":[],"definition":"A small/hypoplastic or absent/aplastic 5th finger.","id":"HP:0006262","name":"Aplasia/Hypoplasia of the 5th 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+{"alt_ids":[],"definition":null,"id":"HP:0006276","name":"Hyperechogenic pancreas","obsolete":false,"parents":["HP:0012090"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hyperplasia of the pancreas.","id":"HP:0006277","name":"Pancreatic hyperplasia","obsolete":false,"parents":["HP:0012094"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut.","id":"HP:0006278","name":"Ectopic pancreatic tissue","obsolete":false,"parents":["HP:0012090"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal pancreas location"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006279","name":"Beta-cell dysfunction","obsolete":false,"parents":["HP:0006476"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A chronic form of pancreatitis.","id":"HP:0006280","name":"Chronic 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hypoplasia"},{"scope":"RELATED","text":"Dysplasia of tooth enamel"},{"scope":"RELATED","text":"Enamel dysplasia"},{"scope":"EXACT","text":"Enamel hypotrophy"},{"scope":"EXACT","text":"Enamel, underdeveloped"},{"scope":"EXACT","text":"Hypoplasia of dental enamel"},{"scope":"EXACT","text":"Hypoplasia of tooth enamel"},{"scope":"BROAD","text":"Thin dental enamel"},{"scope":"BROAD","text":"Thin tooth enamel"},{"scope":"EXACT","text":"Underdeveloped teeth enamel"}]} +{"alt_ids":[],"definition":"Prolonged bleeding post dental extraction sufficient to require medical intervention.","id":"HP:0006298","name":"Prolonged bleeding after dental extraction","obsolete":false,"parents":["HP:0011890"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prolonged bleeding after dental extraction"}]} +{"alt_ids":[],"definition":"Dagger-shaped calcifications in the dental pulp.","id":"HP:0006302","name":"Dagger-shaped pulp 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Note this phenotype should be distinguished from increased space due purely to microdontia.","id":"HP:0006313","name":"Widely spaced primary teeth","obsolete":false,"parents":["HP:0000687","HP:0006481"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised spacing of primary teeth"},{"scope":"EXACT","text":"Generalized spacing of primary teeth"},{"scope":"EXACT","text":"Wide gaps between baby teeth"},{"scope":"EXACT","text":"Wide gaps between primary teeth"},{"scope":"EXACT","text":"Widely spaced baby teeth"},{"scope":"EXACT","text":"Widely spaced deciduous teeth"},{"scope":"EXACT","text":"Widely spaced milk teeth"}]} +{"alt_ids":["HP:0001568","HP:0001573","HP:0006356"],"definition":"A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors.","id":"HP:0006315","name":"Solitary median maxillary central 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mucopolysaccharidoses"},{"scope":"EXACT","text":"Unerupted dentition due to mucopolysaccharidoses"},{"scope":"EXACT","text":"Unerupted teeth due to mucopolysaccharidoses"}]} +{"alt_ids":["HP:0006312"],"definition":"Underdevelopment of the alveolar process (also known as alveolar bone).","id":"HP:0006329","name":"Alveolar process hypoplasia","obsolete":false,"parents":["HP:0006477"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased size of alveolar process of jaw"},{"scope":"EXACT","text":"Decreased size of alveolar ridge"},{"scope":"RELATED","text":"Deficiency of alveolar process of jaw"},{"scope":"RELATED","text":"Deficiency of alveolar ridge"},{"scope":"EXACT","text":"Hypoplasia of alveolar ridge"},{"scope":"EXACT","text":"Hypoplastic alveolar bone"},{"scope":"RELATED","text":"Hypotrophic alveolar process of jaw"},{"scope":"RELATED","text":"Hypotrophic alveolar ridge"},{"scope":"EXACT","text":"Small alveolar process of jaw"},{"scope":"EXACT","text":"Small alveolar ridge"},{"scope":"EXACT","text":"Underdevelopment of alveolar process of jaw"},{"scope":"EXACT","text":"Underdevelopment of alveolar ridge"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006330","name":"Rotated maxillary central incisors","obsolete":false,"parents":["HP:0011062"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rotated upper central incisors"},{"scope":"EXACT","text":"Rotated upper front teeth"},{"scope":"EXACT","text":"Turned upper front teeth"},{"scope":"EXACT","text":"Twisted upper front teeth"}]} +{"alt_ids":[],"definition":"The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor.","id":"HP:0006332","name":"Supernumerary maxillary incisor","obsolete":false,"parents":["HP:0011064","HP:0011069"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extra upper front tooth"}]} +{"alt_ids":[],"definition":"A type of dental misalignment with crowded central incisors, i.e., of maxillary 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retention"},{"scope":"EXACT","text":"Delayed loss of baby teeth"},{"scope":"EXACT","text":"Delayed loss of deciduous teeth"},{"scope":"EXACT","text":"Delayed loss of primary teeth"},{"scope":"EXACT","text":"Failure to exfoliate deciduous teeth"},{"scope":"EXACT","text":"Failure to exfoliate primary teeth"},{"scope":"EXACT","text":"Failure to lose baby teeth"},{"scope":"EXACT","text":"Persistence of deciduous teeth"},{"scope":"EXACT","text":"Persistent deciduous dentition"},{"scope":"EXACT","text":"Persistent primary dentition"},{"scope":"EXACT","text":"Persistent primary teeth"},{"scope":"EXACT","text":"Retained baby teeth"},{"scope":"EXACT","text":"Retained deciduous teeth"},{"scope":"EXACT","text":"Retained primary teeth"}]} +{"alt_ids":[],"definition":"Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length.","id":"HP:0006336","name":"Short dental 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dentition"},{"scope":"EXACT","text":"Precocious eruption of secondary teeth"},{"scope":"EXACT","text":"Premature eruption of adult teeth"}]} +{"alt_ids":[],"definition":"An abnormality of the morphology of secondary premolar tooth.","id":"HP:0006338","name":"Malformation of mandibular premolar","obsolete":false,"parents":["HP:0011080"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Malformation of lower premolar"},{"scope":"EXACT","text":"Malformation of mandibular bicuspid"}]} +{"alt_ids":[],"definition":"An abnormal conical morphology of the primary or permanent mandibular incisors.","id":"HP:0006339","name":"Conical mandibular incisor","obsolete":false,"parents":["HP:0011065"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone shaped lower front tooth"},{"scope":"EXACT","text":"Conoid mandibular incisor"},{"scope":"EXACT","text":"Lower front shark tooth"},{"scope":"RELATED","text":"Peg shaped lower front tooth"},{"scope":"RELATED","text":"Peg shaped mandibular incisor"},{"scope":"RELATED","text":"Pointed mandibular incisor"},{"scope":"RELATED","text":"Pointed mandibular incisors"}]} +{"alt_ids":[],"definition":"A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter","id":"HP:0006342","name":"Peg-shaped maxillary lateral incisors","obsolete":false,"parents":["HP:0011065"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Cone shaped upper lateral incisors"},{"scope":"RELATED","text":"Conical maxillary lateral incisors"},{"scope":"RELATED","text":"Conoid upper lateral incisors"},{"scope":"BROAD","text":"Peg laterals"},{"scope":"EXACT","text":"Peg shaped upper lateral incisors"},{"scope":"RELATED","text":"Pointed upper lateral incisors"}]} +{"alt_ids":[],"definition":"An abnormality of morphology of primary molar.","id":"HP:0006344","name":"Abnormal primary molar morphology","obsolete":false,"parents":["HP:0006481","HP:0011070"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of deciduous molar morphology"},{"scope":"EXACT","text":"Abnormality of primary molar morphology"},{"scope":"EXACT","text":"Abnormality of shape of baby molar"},{"scope":"EXACT","text":"Abnormality of shape of primary molar"}]} +{"alt_ids":[],"definition":"An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape.","id":"HP:0006346","name":"Screwdriver-shaped incisors","obsolete":false,"parents":["HP:0011063"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Screwdriver shaped front teeth"},{"scope":"EXACT","text":"Screwdriver-shaped incisors"}]} +{"alt_ids":["HP:0006318","HP:0006334"],"definition":"Decreased size of the primary teeth.","id":"HP:0006347","name":"Microdontia of primary teeth","obsolete":false,"parents":["HP:0000691","HP:0006481"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Decreased size of primary tooth"},{"scope":"EXACT","text":"Decreased width of baby teeth"},{"scope":"EXACT","text":"Decreased width of deciduous teeth"},{"scope":"EXACT","text":"Decreased width of milk teeth"},{"scope":"EXACT","text":"Decreased width of primary tooth"},{"scope":"EXACT","text":"Microdontia of deciduous teeth"},{"scope":"EXACT","text":"Small deciduous teeth"},{"scope":"EXACT","text":"Underdevelopment of primary teeth"}]} +{"alt_ids":["HP:0000681","HP:0006287","HP:0008498"],"definition":"A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.","id":"HP:0006349","name":"Agenesis of permanent teeth","obsolete":false,"parents":["HP:0009804","HP:0011044"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of adult teeth"},{"scope":"EXACT","text":"Absence of permanent teeth"},{"scope":"EXACT","text":"Absence of secondary dentition"},{"scope":"EXACT","text":"Absent permanent teeth"},{"scope":"EXACT","text":"Agenesis of permanent dentition"},{"scope":"EXACT","text":"Agenesis of secondary dentition"},{"scope":"EXACT","text":"Failure of development of permanent teeth"},{"scope":"EXACT","text":"Failure of development of secondary teeth"},{"scope":"EXACT","text":"Missing permanent teeth"},{"scope":"EXACT","text":"No permanent dentition"}]} +{"alt_ids":[],"definition":"Mineralized substance filling the entire dental pulp space.","id":"HP:0006350","name":"Pulp obliteration","obsolete":false,"parents":["HP:0006479"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Crescent/chevron-shaped pulp chambers"},{"scope":"NARROW","text":"Narrowing of pulp chamber of tooth"},{"scope":"EXACT","text":"Obliteration of the pulp chamber"},{"scope":"EXACT","text":"Pulp canal obliteration"},{"scope":"EXACT","text":"Reduced size of pulp chamber of tooth"},{"scope":"EXACT","text":"Small pulp chamber of tooth"}]} +{"alt_ids":["HP:0006309"],"definition":"Lack of tooth eruption of the secondary dentition.","id":"HP:0006352","name":"Failure of eruption of permanent teeth","obsolete":false,"parents":["HP:0000706"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Failure of eruption of adult teeth"},{"scope":"BROAD","text":"Unerupted adult dentition"},{"scope":"BROAD","text":"Unerupted adult teeth"},{"scope":"BROAD","text":"Unerupted permanent dentition"},{"scope":"BROAD","text":"Unerupted permanent teeth"}]} +{"alt_ids":[],"definition":"Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth.","id":"HP:0006353","name":"Hypoplasia of the tooth germ","obsolete":false,"parents":["HP:0000685"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased size of tooth bud"},{"scope":"EXACT","text":"Decreased size of tooth germ"},{"scope":"RELATED","text":"Hypoplastic tooth buds"},{"scope":"EXACT","text":"Hypotrophic tooth germ"},{"scope":"EXACT","text":"Small tooth bud"},{"scope":"EXACT","text":"Small tooth germ"},{"scope":"BROAD","text":"Underdevelopment of tooth bud"},{"scope":"BROAD","text":"Underdevelopment of tooth germ"}]} +{"alt_ids":[],"definition":"Agenesis of lower secondary incisor or lower primary incisor.","id":"HP:0006355","name":"Agenesis of mandibular central incisor","obsolete":false,"parents":["HP:0006289","HP:0200161"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Absence of lower central incisor"},{"scope":"RELATED","text":"Absence of mandibular central incisor"},{"scope":"EXACT","text":"Failure of development of mandibular central incisor"},{"scope":"RELATED","text":"Missing lower central incisor"},{"scope":"RELATED","text":"Missing mandibular central incisor"}]} +{"alt_ids":[],"definition":"Premature loss of the permanent teeth.","id":"HP:0006357","name":"Premature loss of permanent teeth","obsolete":false,"parents":["HP:0006480"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Early loss of adult teeth"},{"scope":"EXACT","text":"Early loss of permanent teeth"},{"scope":"EXACT","text":"Early loss of secondary dentition"},{"scope":"EXACT","text":"Premature loss of adult teeth"},{"scope":"EXACT","text":"Premature loss of secondary teeth"}]} +{"alt_ids":[],"definition":"A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces.","id":"HP:0006358","name":"Shovel-shaped maxillary central incisors","obsolete":false,"parents":["HP:0011063"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Shovel tooth"},{"scope":"EXACT","text":"Shovel-shaped upper front teeth"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006361","name":"Irregular femoral epiphysis","obsolete":false,"parents":["HP:0006499","HP:0010582"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular thighbone end part"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006362","name":"Varus deformity of humeral neck","obsolete":false,"parents":["HP:0003887"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006366","name":"Adductor longus contractures","obsolete":false,"parents":["HP:0005750"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta.","id":"HP:0006367","name":"Crumpled long bones","obsolete":false,"parents":["HP:0011314"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Crumpled long bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006368","name":"Forearm reduction defects","obsolete":false,"parents":["HP:0002973"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006458"],"definition":"An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour.","id":"HP:0006369","name":"Irregular patellae","obsolete":false,"parents":["HP:0003045"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular patellar contour"},{"scope":"EXACT","text":"Irregular patellar margins"}]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna.","id":"HP:0006370","name":"Distal ulnar epiphyseal stippling","obsolete":false,"parents":["HP:0010600","HP:0010655"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Distal ulnar epiphyseal calcifications"}]} +{"alt_ids":[],"definition":"Increased width of the diaphysis of long bones.","id":"HP:0006371","name":"Broad long bone diaphyses","obsolete":false,"parents":["HP:0000940"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad shaft of long bone"},{"scope":"EXACT","text":"Wide shaft of long bone"}]} +{"alt_ids":[],"definition":"The femur is shortened and displays flaring (widening) of the metaphyses.","id":"HP:0006375","name":"Dumbbell-shaped femur","obsolete":false,"parents":["HP:0000947","HP:0002823"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dumbbell-shaped thighbone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006376","name":"Limited elbow flexion","obsolete":false,"parents":["HP:0002996"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006378","name":"Osteolysis of patellae","obsolete":false,"parents":["HP:0003045","HP:0009139"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006379","name":"Proximal tibial hypoplasia","obsolete":false,"parents":["HP:0005736"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Proximal tibial hypopolasia"}]} +{"alt_ids":["HP:0002978"],"definition":"A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.","id":"HP:0006380","name":"Knee flexion contracture","obsolete":false,"parents":["HP:0005750","HP:0034671"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flexion contracture of knees"},{"scope":"EXACT","text":"Flexion contractures at both knees"},{"scope":"EXACT","text":"Flexion contractures of knees"},{"scope":"EXACT","text":"Flexion deformity of the knee"},{"scope":"BROAD","text":"Inability to straighten knee"},{"scope":"EXACT","text":"Knee flexion contractures"},{"scope":"EXACT","text":"Knee flexion deformity"}]} +{"alt_ids":["HP:0004986"],"definition":"Absent or nearly absent fibula. (Does not include aplastic)","id":"HP:0006381","name":"Rudimentary fibula","obsolete":false,"parents":["HP:0003038"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rudimentary to absent fibulae"},{"scope":"EXACT","text":"Small to absent calf bone"},{"scope":"EXACT","text":"Small to absent fibula"}]} +{"alt_ids":[],"definition":"Progressive bending or abnormal curvature of a long bone.","id":"HP:0006383","name":"Progressive bowing of long bones","obsolete":false,"parents":["HP:0006487"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006447"],"definition":"An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis.","id":"HP:0006384","name":"Club-shaped distal femur","obsolete":false,"parents":["HP:0002823"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Club-shaped distal femora"},{"scope":"EXACT","text":"Club-shaped outermost end of thighbone"}]} +{"alt_ids":["HP:0003054"],"definition":"Shortening of the legs related to developmental hypoplasia of the bones of the leg.","id":"HP:0006385","name":"Short lower limbs","obsolete":false,"parents":["HP:0009816"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short legs"},{"scope":"EXACT","text":"Short lower limbs"}]} +{"alt_ids":[],"definition":"Underdevelopment of the distal epiphysis of the radius.","id":"HP:0006386","name":"Hypoplastic distal radial epiphyses","obsolete":false,"parents":["HP:0010597"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased width of the distal part of the shaft (metaphysis) of the femur.","id":"HP:0006387","name":"Wide distal femoral metaphysis","obsolete":false,"parents":["HP:0006417","HP:0030299"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad outermost wide portion of thighbone"},{"scope":"EXACT","text":"Wide distal metaphysis of femur"}]} +{"alt_ids":[],"definition":"Reduced ability to flex (bend) the knee joint.","id":"HP:0006389","name":"Limited knee flexion","obsolete":false,"parents":["HP:0010501"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal anterior bending or curvature of the tibia.","id":"HP:0006390","name":"Anterior tibial bowing","obsolete":false,"parents":["HP:0002982"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anterior bowing of tibia"},{"scope":"EXACT","text":"Saber shin"},{"scope":"EXACT","text":"Saber tibia"},{"scope":"EXACT","text":"Sabre shin"}]} +{"alt_ids":[],"definition":"Overconstriction, or narrowness of the diaphysis and metaphysis of long bones.","id":"HP:0006391","name":"Overtubulated long bones","obsolete":false,"parents":["HP:0011314"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal increase in the bone density of the long bones.","id":"HP:0006392","name":"Increased density of long bones","obsolete":false,"parents":["HP:0011001","HP:0011314"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased density of long bones"}]} +{"alt_ids":[],"definition":"A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation).","id":"HP:0006394","name":"Limited pronation/supination of forearm","obsolete":false,"parents":["HP:0002996"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Limited pronation/supination of forearm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006397","name":"Lateral displacement of patellae","obsolete":false,"parents":["HP:0003045"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal flattening of the distal epiphysis of femur.","id":"HP:0006398","name":"Flat distal femoral epiphysis","obsolete":false,"parents":["HP:0010590","HP:0030289"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flat end part of outermost thighbone"},{"scope":"EXACT","text":"Flattened distal femoral epiphyses"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006400","name":"Absent knee epiphyses","obsolete":false,"parents":["HP:0010577","HP:0034669"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent knee end part"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006402","name":"Distal shortening of limbs","obsolete":false,"parents":["HP:0009826"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short outer part of limbs"}]} +{"alt_ids":[],"definition":"An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis.","id":"HP:0006406","name":"Club-shaped proximal femur","obsolete":false,"parents":["HP:0002823"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Club-shaped innermost end of thighbone"}]} +{"alt_ids":[],"definition":"Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular.","id":"HP:0006407","name":"Irregular distal femoral epiphysis","obsolete":false,"parents":["HP:0006361","HP:0010590"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular outermost thighbone end part"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006408","name":"Distal tapering femur","obsolete":false,"parents":["HP:0002823"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tapering of outermost end of thighbone"}]} +{"alt_ids":[],"definition":"Progressive bending or abnormal curvature of the leg.","id":"HP:0006409","name":"Progressive leg bowing","obsolete":false,"parents":["HP:0006383"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006413","name":"Broad tibial metaphyses","obsolete":false,"parents":["HP:0006491"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad wide portion of shankbone"},{"scope":"EXACT","text":"Broad wide portion of shinbone"}]} +{"alt_ids":[],"definition":"A bending or abnormal curvature of the distal portion of the tibia.","id":"HP:0006414","name":"Distal tibial bowing","obsolete":false,"parents":["HP:0002982","HP:0034673"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bowing of the distal tibia"},{"scope":"EXACT","text":"Tibial bowing at ankle"}]} +{"alt_ids":[],"definition":"Increased density of the compact bone of long bone.","id":"HP:0006415","name":"Cortically dense long tubular bones","obsolete":false,"parents":["HP:0000935"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006417","name":"Wide femoral metaphysis","obsolete":false,"parents":["HP:0006489"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad femoral metaphyses"},{"scope":"EXACT","text":"Broad femoral metaphysis"},{"scope":"EXACT","text":"Broad wide portion of thigh bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006420","name":"obsolete Asymmetric radial dysplasia","obsolete":true,"parents":[],"replaced_by":["HP:0006433"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006423","name":"Peg-like central prominence of distal tibial metaphyses","obsolete":false,"parents":["HP:0006491"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased length of the radius.","id":"HP:0006424","name":"Elongated radius","obsolete":false,"parents":["HP:0002818"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006426","name":"Rudimentary to absent tibiae","obsolete":false,"parents":["HP:0005772"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003369","HP:0003372","HP:0008781","HP:0008782","HP:0008836"],"definition":"An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).","id":"HP:0006429","name":"Broad femoral neck","obsolete":false,"parents":["HP:0003367"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broadening of femoral neck"},{"scope":"EXACT","text":"Wide femoral neck"},{"scope":"EXACT","text":"Wide neck of thigh bone"},{"scope":"EXACT","text":"Widened femoral necks"}]} +{"alt_ids":[],"definition":"An anomaly of the metaphysis of the proximal femur (close to the hip).","id":"HP:0006431","name":"Abnormal proximal femoral metaphysis morphology","obsolete":false,"parents":["HP:0006489"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal wide portion of innermost thighbone"},{"scope":"EXACT","text":"Proximal femoral metaphyseal abnormality"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006432","name":"Trapezoidal distal femoral condyles","obsolete":false,"parents":["HP:0002823"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004059","HP:0006420","HP:0410049"],"definition":"Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia.","id":"HP:0006433","name":"Radial ray deficiency","obsolete":false,"parents":["HP:0002818"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal radial ray morphology"},{"scope":"EXACT","text":"Deformity of radial ray"},{"scope":"EXACT","text":"Dysplastic radii"},{"scope":"EXACT","text":"Radial club hand"},{"scope":"EXACT","text":"Radial dysplasia"},{"scope":"EXACT","text":"Radial longitudinal deficiency"},{"scope":"EXACT","text":"Radial ray anomaly"},{"scope":"EXACT","text":"Radial ray deformity"}]} +{"alt_ids":["HP:0006365"],"definition":"Proximal radial shortening owing to a congenital defect of development.","id":"HP:0006434","name":"Hypoplasia of proximal radius","obsolete":false,"parents":["HP:0002984"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Proximal radial shortening"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006436","name":"obsolete Shortening of the tibia","obsolete":true,"parents":[],"replaced_by":["HP:0005736"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006437","name":"Disproportionate prominence of the femoral medial condyle","obsolete":false,"parents":["HP:0002823"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal enlargement of the distal epiphysis of the femur.","id":"HP:0006438","name":"Enlargement of the distal femoral epiphysis","obsolete":false,"parents":["HP:0010590"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlargement of the outermost thighbone end part"},{"scope":"EXACT","text":"Large distal femoral epiphyses"}]} +{"alt_ids":["HP:0003972"],"definition":"A dislocation is a separation of the radius and ulna bones where they normally meet. The radioulnar joints are two locations, proximal and distal, in which the radius and ulna articulate in the forearm. Both can dislocate.","id":"HP:0006439","name":"Radioulnar dislocation","obsolete":false,"parents":["HP:0003059"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dislocated radioulnar joints"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006440","name":"Increased density of long bone diaphyses","obsolete":false,"parents":["HP:0000940","HP:0006392"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased density of shaft of long bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006441","name":"Lateral humeral condyle aplasia","obsolete":false,"parents":["HP:0031095"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee.","id":"HP:0006442","name":"Hypoplasia of proximal fibula","obsolete":false,"parents":["HP:0003038"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small innermost upper end of calf bone"},{"scope":"EXACT","text":"Underdeveloped innermost upper end of calf bone"}]} +{"alt_ids":["HP:0003046","HP:0006475"],"definition":"Absence of the patella.","id":"HP:0006443","name":"Patellar aplasia","obsolete":false,"parents":["HP:0006498"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent kneecap"},{"scope":"EXACT","text":"Absent patella"},{"scope":"EXACT","text":"Absent patellae"},{"scope":"EXACT","text":"Absent patellas"},{"scope":"EXACT","text":"Aplastic patellae"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006446","name":"Dysplastic patella","obsolete":false,"parents":["HP:0003045","HP:0003330"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006449","name":"Distal radial epiphyseal osteolysis","obsolete":false,"parents":["HP:0010597"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006450","name":"Multicentric ossification of proximal femoral epiphyses","obsolete":false,"parents":["HP:0009107","HP:0010574"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental anomaly with lateral displacement of the femoral head.","id":"HP:0006453","name":"Lateral displacement of the femoral head","obsolete":false,"parents":["HP:0003368"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Laterally displaced femoral heads"}]} +{"alt_ids":[],"definition":"Formation of bone in the patella later than normal.","id":"HP:0006454","name":"Delayed patellar ossification","obsolete":false,"parents":["HP:0003045","HP:0003336"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Delayed bone maturation of the knee cap"},{"scope":"EXACT","text":"Delayed patellae ossification"}]} +{"alt_ids":[],"definition":"Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular.","id":"HP:0006456","name":"Irregular proximal tibial epiphyses","obsolete":false,"parents":["HP:0010582","HP:0010591"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular innermost shankbone end part"},{"scope":"EXACT","text":"Irregular innermost shinbone end part"}]} +{"alt_ids":[],"definition":"Partial dislocation of the ulna in the dorsal direction.","id":"HP:0006459","name":"Dorsal subluxation of ulna","obsolete":false,"parents":["HP:0040071"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The ankle joint can move, passively and/or actively, beyond normal limits along its physiological axes.","id":"HP:0006460","name":"Ankle hypermobility","obsolete":false,"parents":["HP:0001382","HP:0034674"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased laxity of ankles"}]} +{"alt_ids":["HP:0003000"],"definition":"Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt.","id":"HP:0006461","name":"Proximal femoral epiphysiolysis","obsolete":false,"parents":["HP:0010574"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Slipped capital femoral epiphyses"},{"scope":"EXACT","text":"Slipped capital femoral epiphysis"},{"scope":"EXACT","text":"Slipped end part of innermost thighbone"}]} +{"alt_ids":[],"definition":"A generalized decrease in bone mineral density.","id":"HP:0006462","name":"Generalized bone demineralization","obsolete":false,"parents":["HP:0004349"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised bone demineralization"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006463","name":"Rickets of the lower limbs","obsolete":false,"parents":["HP:0002748","HP:0002814"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Thickening of the periosteum of long bone.","id":"HP:0006465","name":"Periosteal thickening of long tubular bones","obsolete":false,"parents":["HP:0011314","HP:0030313"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004985","HP:0006403"],"definition":null,"id":"HP:0006466","name":"Ankle flexion contracture","obsolete":false,"parents":["HP:0034677"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A limitation of the range of movement of the shoulder joint.","id":"HP:0006467","name":"Limited shoulder movement","obsolete":false,"parents":["HP:0001376","HP:0033129"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Limited shoulder movement"}]} +{"alt_ids":[],"definition":"Decreased width of the diaphysis of long bones.","id":"HP:0006470","name":"Thin long bone diaphyses","obsolete":false,"parents":["HP:0000940"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thin diaphyses of long bones"},{"scope":"EXACT","text":"Thin shaft of long bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006471","name":"Fixed elbow flexion","obsolete":false,"parents":["HP:0006376"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal anterior curvature of a long bone.","id":"HP:0006473","name":"Anterior bowing of long bones","obsolete":false,"parents":["HP:0006487"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0100567"],"definition":"An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin.","id":"HP:0006476","name":"Abnormality of the pancreatic islet cells","obsolete":false,"parents":["HP:0012093"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth.","id":"HP:0006477","name":"Abnormal alveolar ridge morphology","obsolete":false,"parents":["HP:0000163"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of alveolar margin"},{"scope":"RELATED","text":"Abnormality of alveolar processes of jaw"},{"scope":"EXACT","text":"Abnormality of dentoalveolar ridges"},{"scope":"EXACT","text":"Abnormality of gum ridge"},{"scope":"BROAD","text":"Abnormality of the alveolar ridges"},{"scope":"EXACT","text":"Defect in alveolar ridge"}]} +{"alt_ids":[],"definition":"An abnormality of the dental pulp.","id":"HP:0006479","name":"Abnormal dental pulp morphology","obsolete":false,"parents":["HP:0011061"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the dental pulp"},{"scope":"EXACT","text":"Abnormality of tooth pulp"},{"scope":"RELATED","text":"Endodontic abnormality"}]} +{"alt_ids":["HP:0000701","HP:0001564","HP:0006343"],"definition":"Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.","id":"HP:0006480","name":"Spontaneous tooth loss","obsolete":false,"parents":["HP:0020354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Early tooth loss"},{"scope":"EXACT","text":"Loss of teeth"},{"scope":"NARROW","text":"Premature exfoliation of teeth"},{"scope":"EXACT","text":"Premature loss of teeth"},{"scope":"EXACT","text":"Premature teeth loss"},{"scope":"EXACT","text":"Premature tooth loss"}]} +{"alt_ids":[],"definition":"Any abnormality of the primary tooth.","id":"HP:0006481","name":"Abnormal primary tooth morphology","obsolete":false,"parents":["HP:0006482"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of baby teeth"},{"scope":"EXACT","text":"Abnormality of deciduous teeth"},{"scope":"EXACT","text":"Abnormality of milk teeth"},{"scope":"EXACT","text":"Abnormality of primary teeth"}]} +{"alt_ids":["HP:0000697"],"definition":"An abnormality of the morphology of the tooth.","id":"HP:0006482","name":"Abnormal dental morphology","obsolete":false,"parents":["HP:0000164","HP:0031816"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of dental morphology"},{"scope":"EXACT","text":"Abnormality of dental shape"},{"scope":"EXACT","text":"Abnormality of shape of tooth"},{"scope":"EXACT","text":"Abnormally shaped teeth"},{"scope":"EXACT","text":"Deformity of teeth"},{"scope":"EXACT","text":"Dental deformity"},{"scope":"EXACT","text":"Dental malformations"},{"scope":"EXACT","text":"Malformation of teeth"},{"scope":"EXACT","text":"Malformed teeth"},{"scope":"EXACT","text":"Misshapen teeth"},{"scope":"EXACT","text":"Misshapened teeth"}]} +{"alt_ids":[],"definition":"The presence of an altered number of of teeth.","id":"HP:0006483","name":"Abnormal number of teeth","obsolete":false,"parents":["HP:0006482"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal complement of teeth"},{"scope":"EXACT","text":"Abnormal number of teeth"},{"scope":"EXACT","text":"Abnormal tooth count"}]} +{"alt_ids":[],"definition":"Agenesis of incisor.","id":"HP:0006485","name":"Agenesis of incisor","obsolete":false,"parents":["HP:0001592","HP:0011064"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Absence of front tooth"},{"scope":"RELATED","text":"Absence of incisors"},{"scope":"EXACT","text":"Failure of development of incisor"},{"scope":"RELATED","text":"Missing front tooth"},{"scope":"RELATED","text":"Missing incisors"}]} +{"alt_ids":[],"definition":"An abnormality of the dental root.","id":"HP:0006486","name":"Abnormal dental root morphology","obsolete":false,"parents":["HP:0006482"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the dental root"},{"scope":"EXACT","text":"Abnormality of tooth root"},{"scope":"EXACT","text":"Dental root anomaly"}]} +{"alt_ids":["HP:0002976","HP:0005087","HP:0005908","HP:0006404","HP:0006451","HP:0006452"],"definition":"A bending or abnormal curvature of a long bone.","id":"HP:0006487","name":"Bowing of the long bones","obsolete":false,"parents":["HP:0000940"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bowed long bones"},{"scope":"EXACT","text":"Bowing of long bones"},{"scope":"EXACT","text":"Bowing of the long bones"},{"scope":"EXACT","text":"Camptomelia"},{"scope":"EXACT","text":"Diaphyseal bowing"},{"scope":"EXACT","text":"Diaphyseal bowing of long bones"}]} +{"alt_ids":[],"definition":"A bending or abnormal curvature affecting a long bone of the arm.","id":"HP:0006488","name":"Bowing of the arm","obsolete":false,"parents":["HP:0002817","HP:0006487"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bending of the arm"},{"scope":"EXACT","text":"Bowing of the arm"}]} +{"alt_ids":[],"definition":"An anomaly of the femoral metaphysis.","id":"HP:0006489","name":"Abnormal femoral metaphysis morphology","obsolete":false,"parents":["HP:0002823","HP:0006490"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the femoral metaphysis"},{"scope":"BROAD","text":"Abnormality of the wide portion of the femoral bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006490","name":"Abnormal lower-limb metaphysis morphology","obsolete":false,"parents":["HP:0000944","HP:0002814"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of lower-limb metaphyses"},{"scope":"EXACT","text":"Abnormality of the wide portion of the lower-limb bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006491","name":"Abnormal tibial metaphysis morphology","obsolete":false,"parents":["HP:0002992","HP:0006490"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the tibial metaphysis"},{"scope":"BROAD","text":"Abnormality of the wide portion of shankbone"},{"scope":"BROAD","text":"Abnormality of the wide portion of shinbone"}]} +{"alt_ids":["HP:0005672","HP:0006421"],"definition":"Absence or underdevelopment of the fibula.","id":"HP:0006492","name":"Aplasia/Hypoplasia of the fibula","obsolete":false,"parents":["HP:0002991","HP:0006493"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small calf bone"},{"scope":"EXACT","text":"Absent/underdeveloped calf bone"},{"scope":"EXACT","text":"Fibular aplasia/hypoplasia"},{"scope":"EXACT","text":"Hypoplastic/aplastic fibulae"}]} +{"alt_ids":[],"definition":"Absence (due to failure to form) or underdevelopment of the bones of the lower limbs.","id":"HP:0006493","name":"Aplasia/hypoplasia involving bones of the lower limbs","obsolete":false,"parents":["HP:0040069","HP:0045060"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small lower limb bones"},{"scope":"EXACT","text":"Absent/underdeveloped lower limb bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006494","name":"Aplasia/Hypoplasia involving bones of the feet","obsolete":false,"parents":["HP:0001760","HP:0006493"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small foot bones"},{"scope":"EXACT","text":"Absent/underdeveloped foot bones"}]} +{"alt_ids":["HP:0005097","HP:0006372","HP:0006410"],"definition":"Absence or underdevelopment of the ulna.","id":"HP:0006495","name":"Aplasia/Hypoplasia of the ulna","obsolete":false,"parents":["HP:0006503","HP:0040071"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence/underdevelopment of inner forearm bone"},{"scope":"EXACT","text":"Absent-hypoplastic ulnae"},{"scope":"EXACT","text":"Absent/small ulna"},{"scope":"EXACT","text":"Hypoplasia or unilateral/bilateral absence of ulna"},{"scope":"EXACT","text":"Ulnar hypoplasia/aplasia"}]} +{"alt_ids":[],"definition":"Absence (due to failure to form) or underdevelopment of the bones of the upper limbs.","id":"HP:0006496","name":"Aplasia/hypoplasia involving bones of the upper limbs","obsolete":false,"parents":["HP:0002817","HP:0045060"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small bones of the upper limbs"},{"scope":"EXACT","text":"Absent/underdeveloped bones of the upper limbs"}]} +{"alt_ids":["HP:0005006","HP:0005027","HP:0005702","HP:0005729","HP:0006374"],"definition":"Absence or underdevelopment of the patella.","id":"HP:0006498","name":"Aplasia/Hypoplasia of the patella","obsolete":false,"parents":["HP:0003045","HP:0006493"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent or hypoplastic patellae"},{"scope":"EXACT","text":"Absent/hypoplastic patella"},{"scope":"EXACT","text":"Absent/small kneecap"},{"scope":"EXACT","text":"Absent/underdeveloped kneecap"},{"scope":"EXACT","text":"Aplastic or hypoplastic patellae"},{"scope":"EXACT","text":"Hypoplastic or absent patella"},{"scope":"EXACT","text":"Patellar aplasia/hypoplasia"},{"scope":"EXACT","text":"Small to absent patellae"}]} +{"alt_ids":["HP:0006412","HP:0008811"],"definition":"An anomaly of a growth plate of a femur.","id":"HP:0006499","name":"Abnormal femoral epiphysis morphology","obsolete":false,"parents":["HP:0002823","HP:0006500"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of femoral epiphysis"},{"scope":"EXACT","text":"Abnormality of thighbone end part"}]} +{"alt_ids":[],"definition":"An anomaly of one or more epiphyses of one or both legs.","id":"HP:0006500","name":"Abnormal lower limb epiphysis morphology","obsolete":false,"parents":["HP:0002814","HP:0006505"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of end part of lower limb end bone"},{"scope":"EXACT","text":"Abnormality involving the epiphyses of the lower limbs"},{"scope":"EXACT","text":"Abnormality of lower limb epiphysis morphology"}]} +{"alt_ids":["HP:0005718"],"definition":"A small/hypoplastic or absent/aplastic radius.","id":"HP:0006501","name":"Aplasia/Hypoplasia of the radius","obsolete":false,"parents":["HP:0002818","HP:0006503"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence or underdevelopment of the radius bone of the arm"},{"scope":"EXACT","text":"Absent/small radius"},{"scope":"EXACT","text":"Absent/underdeveloped radius"},{"scope":"EXACT","text":"Radial aplasia/hypoplasia"}]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the carpal bones.","id":"HP:0006502","name":"Aplasia/Hypoplasia involving the carpal bones","obsolete":false,"parents":["HP:0001191","HP:0005927"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small wrist bones"},{"scope":"EXACT","text":"Absent/underdeveloped wrist bones"}]} +{"alt_ids":[],"definition":"Absence (due to failure to form) or underdevelopment of one or more forearm bones.","id":"HP:0006503","name":"Aplasia/hypoplasia involving forearm bones","obsolete":false,"parents":["HP:0006496","HP:0040072"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small forearm bones"},{"scope":"EXACT","text":"Absent/underdeveloped forearm bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006504","name":"obsolete Anomaly of the limb diaphyses morphology","obsolete":true,"parents":[],"replaced_by":["HP:0000940"],"synonyms":[{"scope":"EXACT","text":"Abnormality of shaft of long bone of the limbs"}]} +{"alt_ids":[],"definition":"An anomaly of one or more epiphyses of a limb.","id":"HP:0006505","name":"Abnormal limb epiphysis morphology","obsolete":false,"parents":["HP:0002813","HP:0005930"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of end part of limb bones"},{"scope":"EXACT","text":"Abnormality involving the epiphyses of the limbs"},{"scope":"EXACT","text":"Abnormality of limb epiphysis morphology"}]} +{"alt_ids":[],"definition":"Absence (due to failure to form) or underdevelopment of the humerus.","id":"HP:0006507","name":"Aplasia/hypoplasia of the humerus","obsolete":false,"parents":["HP:0006496","HP:0031095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small long bone in upper arm"},{"scope":"EXACT","text":"Absent/underdeveloped long bone in upper arm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006508","name":"Abnormality of tibial epiphyses","obsolete":false,"parents":["HP:0002992","HP:0006500"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of end part of shinbone"}]} +{"alt_ids":[],"definition":"Tracheal diverticula are blind-ended outpouchings arising from the trachea. They are usually an incidental finding. Occasionally they can mimic pneumomediastinum. Tracheal diverticula are either congenital or acquired, in the latter case the most common causes are prolonged increased intraluminal pressure, e.g. chronic cough, COPD, tracheomalacia, and iatrogenic (e.g. post-surgical).","id":"HP:0006509","name":"Diverticulosis of trachea","obsolete":false,"parents":["HP:0002778"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Paratracheal air cyst"},{"scope":"EXACT","text":"Tracheal diverticulosis"},{"scope":"EXACT","text":"Tracheal diverticulum"},{"scope":"EXACT","text":"Tracheocele"}]} +{"alt_ids":["HP:0006541"],"definition":"An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities.","id":"HP:0006510","name":"Chronic pulmonary obstruction","obsolete":false,"parents":["HP:0006536"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"COPD"},{"scope":"EXACT","text":"Chronic obstructive pulmonary disease"}]} +{"alt_ids":[],"definition":"An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat.","id":"HP:0006511","name":"Laryngeal stridor","obsolete":false,"parents":["HP:0025424"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Laryngeal stidor"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006514","name":"Intraalveolar nodular calcifications","obsolete":false,"parents":["HP:0010766","HP:0033137"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006515","name":"Interstitial pneumonitis","obsolete":false,"parents":["HP:0006530"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hypersensitivity pneumonitis involves inhalation of an antigen. This leads to an exaggerated immune response and a following inflammation of the alveoli within the lungs. The main feature of chronic hypersensitivity pneumonitis on lung biopsies is expansion of the interstitium by lymphocytes accompanied by an occasional multinucleated giant cell or loose granuloma. After exposure to the provoking antigen, following symptoms can be seen: fever, chills, malaise, cough, hemoptysis, chest tightness, dyspnea, rash, swelling and headache and can be completely reversible, based on the duration of the illness, categorized as acute (HP:0011009), subacute (HP:0011011), and chronic (HP:0011010).","id":"HP:0006516","name":"Hypersensitivity pneumonitis","obsolete":false,"parents":["HP:0006530"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0032982"],"definition":"Accumulation of amorphous PAS-positive material in the space between alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis.","id":"HP:0006517","name":"Intraalveolar phospholipid accumulation","obsolete":false,"parents":["HP:0032973"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Alveolar proteinosis"},{"scope":"EXACT","text":"Detection of PAS-positive extracellular material in broncho-alveolar lavage"},{"scope":"EXACT","text":"Pulmonary alveolar proteinosis"}]} +{"alt_ids":[],"definition":"Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition.","id":"HP:0006518","name":"Pulmonary venous occlusion","obsolete":false,"parents":["HP:0030968"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Pulmonary venoocclusive disease"},{"scope":"EXACT","text":"Pulmonary venous stenosis"}]} +{"alt_ids":["HP:0006757"],"definition":"Adenocarcinoma of the Bronchus.","id":"HP:0006519","name":"Alveolar cell carcinoma","obsolete":false,"parents":["HP:0100552"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006520","name":"Progressive pulmonary function impairment","obsolete":false,"parents":["HP:0002795"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006526","HP:0006551"],"definition":"Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid.","id":"HP:0006521","name":"Pulmonary lymphangiectasia","obsolete":false,"parents":["HP:0006529","HP:0031842"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pulmonary lymphangiectasis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006522","name":"Repeated pneumothoraces","obsolete":false,"parents":["HP:0002107"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Repeated pneumothorax"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006524","name":"Tracheobronchial leiomyomatosis","obsolete":false,"parents":["HP:0100552"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006525","name":"obsolete Lung segmentation defects","obsolete":true,"parents":[],"replaced_by":["HP:0002101"],"synonyms":[]} +{"alt_ids":[],"definition":"Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa.","id":"HP:0006527","name":"Lymphocytic interstitial pneumonia","obsolete":false,"parents":["HP:0006515","HP:0033582"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lymphocytic interstitial pneumonitis"},{"scope":"EXACT","text":"Lymphoid interstitial pneumonia"},{"scope":"EXACT","text":"Lymphoid interstitial pneumonitis"}]} +{"alt_ids":[],"definition":"According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.","id":"HP:0006528","name":"Chronic lung disease","obsolete":false,"parents":["HP:0002795"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic lung disease"}]} +{"alt_ids":[],"definition":"An abnormality of the pulmonary lymphatic chain.","id":"HP:0006529","name":"Abnormal pulmonary lymphatics","obsolete":false,"parents":["HP:0002088","HP:0100763"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006513","HP:0006547"],"definition":"Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis.","id":"HP:0006530","name":"Abnormal pulmonary interstitial morphology","obsolete":false,"parents":["HP:0002088"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal lung parenchyma morphology"},{"scope":"EXACT","text":"Abnormality in area between air sacs in lung"},{"scope":"EXACT","text":"Interstitial lung disease"},{"scope":"EXACT","text":"Interstitial pulmonary disease"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006531","name":"Pleural lymphangiectasia","obsolete":false,"parents":["HP:0002103","HP:0031842"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002095","HP:0002096"],"definition":"An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.","id":"HP:0006532","name":"Recurrent pneumonia","obsolete":false,"parents":["HP:0002090","HP:0002783"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multiple pulmonary infections"},{"scope":"EXACT","text":"Pneumonia, recurrent"},{"scope":"EXACT","text":"Pneumonia, recurrent episodes"},{"scope":"EXACT","text":"Pulmonary infection"},{"scope":"EXACT","text":"Pulmonary infections"},{"scope":"EXACT","text":"Recurrent pneumonia"},{"scope":"EXACT","text":"Recurrent pulmonary infections"},{"scope":"EXACT","text":"pulmonary infections, recurrent"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006533","name":"Bronchodysplasia","obsolete":false,"parents":["HP:0025426"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A recurrent hemorrhage occurring within the lung.","id":"HP:0006535","name":"Recurrent intrapulmonary hemorrhage","obsolete":false,"parents":["HP:0040223"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent bleeding into lungs"},{"scope":"EXACT","text":"Recurrent intrapulmonary haemorrhage"},{"scope":"EXACT","text":"Recurrent pulmonary haemorrhage"},{"scope":"EXACT","text":"Recurrent pulmonary hemorrhage"}]} +{"alt_ids":["HP:0006512"],"definition":"Obstruction of conducting airways of the lung.","id":"HP:0006536","name":"Airway obstruction","obsolete":false,"parents":["HP:0002795"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Obstructive lung disease"},{"scope":"EXACT","text":"Pulmonary obstruction"}]} +{"alt_ids":[],"definition":"An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.","id":"HP:0006538","name":"Recurrent bronchopulmonary infections","obsolete":false,"parents":["HP:0002205"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent bronchopneumonia"},{"scope":"BROAD","text":"Recurrent infections in bronchi and lungs"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006539","name":"Bronchial cartilage hypoplasia","obsolete":false,"parents":["HP:0025426"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Underdevelopment of the bronical cartilage"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006541","name":"obsolete Chronic obstructive airway disease from birth","obsolete":true,"parents":[],"replaced_by":["HP:0006510"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006543","name":"Cardiorespiratory arrest","obsolete":false,"parents":["HP:0005943"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0010962"],"definition":"A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree.","id":"HP:0006544","name":"Extrapulmonary lobar sequestration","obsolete":false,"parents":["HP:0100632"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Diaphragmatic sequestrum"},{"scope":"EXACT","text":"Extralobar sequestration"},{"scope":"EXACT","text":"Extrapulmonary sequestrum"}]} +{"alt_ids":["HP:0002114","HP:0006537"],"definition":"Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins.","id":"HP:0006548","name":"Pulmonary arteriovenous malformation","obsolete":false,"parents":["HP:0004930","HP:0100026"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pulmonary AV malformation"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006549","name":"Unilateral primary pulmonary dysgenesis","obsolete":false,"parents":["HP:4000059"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Primary pulmonary dysgenesis, unilateral"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006552","name":"Fibrocystic lung disease","obsolete":false,"parents":["HP:0005948"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006556"],"definition":"Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver.","id":"HP:0006554","name":"Acute hepatic failure","obsolete":false,"parents":["HP:0001399"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acute liver failure"}]} +{"alt_ids":[],"definition":"A diffuse form of hepatic steatosis.","id":"HP:0006555","name":"Diffuse hepatic steatosis","obsolete":false,"parents":["HP:0001397"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hepatic steatosis, diffuse"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006557","name":"Polycystic liver disease","obsolete":false,"parents":["HP:0006706"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased activity of complex III of the mitochondrion in the liver.","id":"HP:0006558","name":"Decreased mitochondrial complex III activity in liver tissue","obsolete":false,"parents":["HP:0025155"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of abnormal calcium deposition in the liver.","id":"HP:0006559","name":"Hepatic calcification","obsolete":false,"parents":["HP:0010766","HP:0410042"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Liver calcifications"}]} +{"alt_ids":[],"definition":"Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia.","id":"HP:0006560","name":"Biliary hyperplasia","obsolete":false,"parents":["HP:0012440"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bile duct hyperplasia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006561","name":"Lipid accumulation in hepatocytes","obsolete":false,"parents":["HP:0031137"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the liver due to infection with a virus.","id":"HP:0006562","name":"Viral hepatitis","obsolete":false,"parents":["HP:5210139"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006563","name":"Malformation of the hepatic ductal plate","obsolete":false,"parents":["HP:0004297"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Intermittently increased size of the liver.","id":"HP:0006564","name":"Fluctuating hepatomegaly","obsolete":false,"parents":["HP:0002240"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal increase in the amount of intracellular lipid droplets in hepatocytes.","id":"HP:0006565","name":"Increased hepatocellular lipid droplets","obsolete":false,"parents":["HP:0006561"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006566","name":"Neonatal cholestatic liver disease","obsolete":false,"parents":["HP:0002611"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in the amount of glycogen stored in hepatocytes compared to normal.","id":"HP:0006568","name":"Increased hepatic glycogen content","obsolete":false,"parents":["HP:0500030"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased liver glycogen content"}]} +{"alt_ids":[],"definition":"The presence of reduced numbers of intrahepatic bile duct than normal.","id":"HP:0006571","name":"Reduced number of intrahepatic bile ducts","obsolete":false,"parents":["HP:0011040"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hepatic ductopenia"},{"scope":"RELATED","text":"Intrahepatic duct deficiency"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006572","name":"Subacute progressive viral hepatitis","obsolete":false,"parents":["HP:0006562"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An acute form of hepatic steatosis.","id":"HP:0006573","name":"Acute hepatic steatosis","obsolete":false,"parents":["HP:0001397"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acute fatty liver"}]} +{"alt_ids":["HP:0006569"],"definition":null,"id":"HP:0006574","name":"Hepatic arteriovenous malformation","obsolete":false,"parents":["HP:0006707","HP:0100026"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Liver arteriovenous malformation"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006575","name":"Intrahepatic cholestasis with episodic jaundice","obsolete":false,"parents":["HP:0001406"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006576","name":"Hepatic vascular malformations","obsolete":false,"parents":["HP:0006707"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Liver vascular malformations"}]} +{"alt_ids":[],"definition":"A type of cirrhosis characterized by the presence of large regenerative nodules.","id":"HP:0006577","name":"Macronodular cirrhosis","obsolete":false,"parents":["HP:0001394"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0000986"],"definition":"Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.","id":"HP:0006579","name":"Prolonged neonatal jaundice","obsolete":false,"parents":["HP:0000952"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Jaundice, neonatal"},{"scope":"EXACT","text":"Neonatal jaundice"},{"scope":"EXACT","text":"Prolonged yellowing of skin in newborn"}]} +{"alt_ids":[],"definition":"Fibroblast proliferation and fiber expansion from the portal areas to the lobule.","id":"HP:0006580","name":"Portal fibrosis","obsolete":false,"parents":["HP:0004297"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Portal fibrosis shown on biopsy"}]} +{"alt_ids":[],"definition":"An abnormal reduction in the number of mitochondria in hepatocytes.","id":"HP:0006581","name":"Depletion of mitochondrial DNA in liver","obsolete":false,"parents":["HP:0030059","HP:0410042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure.","id":"HP:0006582","name":"Reye syndrome-like episodes","obsolete":false,"parents":["HP:0006846","HP:0025155"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006583","name":"Fatal liver failure in infancy","obsolete":false,"parents":["HP:0001399"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fatal liver failure in infancy"}]} +{"alt_ids":["HP:0006629"],"definition":null,"id":"HP:0006584","name":"Small abnormally formed scapulae","obsolete":false,"parents":["HP:0000882"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small abnormally formed scapula"},{"scope":"EXACT","text":"Small abnormally formed shoulder blade"}]} +{"alt_ids":["HP:0006612","HP:0006661"],"definition":"The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle.","id":"HP:0006585","name":"Congenital pseudoarthrosis of the clavicle","obsolete":false,"parents":["HP:0005864","HP:0006710"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Bipartite clavicle"},{"scope":"EXACT","text":"Clavicle pseudoarthrosis"},{"scope":"EXACT","text":"Pseudoarthrosis of clavicle"}]} +{"alt_ids":[],"definition":"An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved .","id":"HP:0006587","name":"Straight clavicle","obsolete":false,"parents":["HP:0000889"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Straight clavicles"},{"scope":"EXACT","text":"Straight collarbone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006589","name":"Flaring of lower rib cage","obsolete":false,"parents":["HP:0000904"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flaring of lower rib cage"}]} +{"alt_ids":[],"definition":"Prematurely closed sternal sutures.","id":"HP:0006590","name":"Premature sternal synostosis","obsolete":false,"parents":["HP:0006714"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prematurely closed sternal sutures"}]} +{"alt_ids":[],"definition":"Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.","id":"HP:0006591","name":"Absent glenoid fossa","obsolete":false,"parents":["HP:0011912"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aplasia of the glenoid fossa"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006593","name":"Anomalous rib insertion to vertebrae","obsolete":false,"parents":["HP:0000772"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0010792"],"definition":"Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint.","id":"HP:0006595","name":"Scapulohumeral synostosis","obsolete":false,"parents":["HP:0000782","HP:0001376","HP:0003043","HP:0031095","HP:0100238"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fusion of shoulder blade to long bone in upper arm"},{"scope":"EXACT","text":"Humero-scapulo synostosis"},{"scope":"EXACT","text":"Humeroscapular synostosis"},{"scope":"EXACT","text":"Synostosis of shoulder joint"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006596","name":"Restricted chest movement","obsolete":false,"parents":["HP:0001376","HP:0001547"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Restricted chest movement"}]} +{"alt_ids":[],"definition":"The presence of a paralyzed diaphragm.","id":"HP:0006597","name":"Diaphragmatic paralysis","obsolete":false,"parents":["HP:0003470","HP:0009113"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Diaphragmatic paralysis"},{"scope":"EXACT","text":"Paralysed diaphragm"},{"scope":"EXACT","text":"Paralyzed diaphragm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006598","name":"Irregular ossification at anterior rib ends","obsolete":false,"parents":["HP:0012306"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006599","name":"Medial widening of clavicle","obsolete":false,"parents":["HP:0000889"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Medial widening of clavicles"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006600","name":"Progressive calcification of costochondral cartilage","obsolete":false,"parents":["HP:0000919","HP:0100593"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006603","name":"Flared, irregular rib ends","obsolete":false,"parents":["HP:0000887"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flared, irregular rib ends"}]} +{"alt_ids":["HP:0006658"],"definition":"Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.","id":"HP:0006606","name":"Irregular chondrocostal junctions","obsolete":false,"parents":["HP:0000919"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular costochondral margins"}]} +{"alt_ids":[],"definition":"Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage.","id":"HP:0006607","name":"Precocious costochondral ossification","obsolete":false,"parents":["HP:0000919","HP:0004348","HP:0012306"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of the middle portion of the clavicle.","id":"HP:0006608","name":"Midclavicular hypoplasia","obsolete":false,"parents":["HP:0000894"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Underdeveloped middle portion of the collarbone"}]} +{"alt_ids":["HP:0000779","HP:0001554"],"definition":"A larger than usual distance between the left and right nipple.","id":"HP:0006610","name":"Wide intermamillary distance","obsolete":false,"parents":["HP:0040157"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide-spaced nipples"},{"scope":"EXACT","text":"Widely spaced nipples"},{"scope":"EXACT","text":"Widely-spaced nipples"}]} +{"alt_ids":[],"definition":"A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms.","id":"HP:0006611","name":"Decreased number of sternal ossification centers","obsolete":false,"parents":["HP:0011863"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased number of sternal ossification centres"}]} +{"alt_ids":[],"definition":"Lack of formation and mineralization of the ribs in utero.","id":"HP:0006615","name":"Absent in utero rib ossification","obsolete":false,"parents":["HP:0012306"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent rib calcification in utero"}]} +{"alt_ids":[],"definition":"Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs.","id":"HP:0006619","name":"Anterior rib punctate calcifications","obsolete":false,"parents":["HP:0012306","HP:0040059"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase in density of the tissue at the costochondral junctions.","id":"HP:0006623","name":"Costochondral joint sclerosis","obsolete":false,"parents":["HP:0000919"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sclerotic costochondral joints"}]} +{"alt_ids":[],"definition":"Breast carcinoma that is bilateral or otherwise multifocal.","id":"HP:0006625","name":"Multifocal breast carcinoma","obsolete":false,"parents":["HP:0003002"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multifocal breast cancer"}]} +{"alt_ids":["HP:0006654","HP:0006666"],"definition":"Lack of formation of mineralized bony tissue of the sternum.","id":"HP:0006628","name":"Absent sternal ossification","obsolete":false,"parents":["HP:0006714","HP:0011863"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Absent bone maturation in sternum"},{"scope":"EXACT","text":"Absent sternal mineralization"},{"scope":"EXACT","text":"Lack of sternal ossification"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006631","name":"Hypoplastic distal segments of scapulae","obsolete":false,"parents":["HP:0000882"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small distal segments of the shoulder blade"},{"scope":"BROAD","text":"Small outermost segments of shoulder blade"},{"scope":"EXACT","text":"Underdeveloped outermost segments of shoulder blade"}]} +{"alt_ids":["HP:0006632"],"definition":"Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus.","id":"HP:0006633","name":"Glenoid fossa hypoplasia","obsolete":false,"parents":["HP:0011912"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Glenoid hypoplasia"},{"scope":"EXACT","text":"Hypoplastic glenoid fossa"}]} +{"alt_ids":[],"definition":"Osteosclerosis of ribs (increased density related to increased bone mass).","id":"HP:0006634","name":"Osteosclerosis of ribs","obsolete":false,"parents":["HP:0012306"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in ribs"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006637","name":"Sternal punctate calcifications","obsolete":false,"parents":["HP:0000766","HP:0010766"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Developmental defect resulting in congenital absence of the middle portion of the clavicle.","id":"HP:0006638","name":"Midclavicular aplasia","obsolete":false,"parents":["HP:0006710"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Missing middle part of collarbone"}]} +{"alt_ids":["HP:0000923"],"definition":"More than one fracture of the ribs. Callus formation around multiple rib fractures can produce a row of multiple rounded expansions (beadlike prominences) giving the appearance of beaded ribs. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib.","id":"HP:0006640","name":"Multiple rib fractures","obsolete":false,"parents":["HP:0000772"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multiple rib fractures"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006641","name":"Prominent floating ribs","obsolete":false,"parents":["HP:0000772"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prominent floating ribs"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006642","name":"Large sternal ossification centers","obsolete":false,"parents":["HP:0011863"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Large sternal ossification centres"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006643","name":"Fused sternal ossification centers","obsolete":false,"parents":["HP:0011863"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused sternal ossification centres"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006644","name":"Thoracic dysplasia","obsolete":false,"parents":["HP:0001547"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally reduced diameter (cross section) of the clavicles.","id":"HP:0006645","name":"Thin clavicle","obsolete":false,"parents":["HP:0000889"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thin clavicles"},{"scope":"EXACT","text":"Thin collarbone"}]} +{"alt_ids":["HP:0006662"],"definition":"Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax.","id":"HP:0006646","name":"Costal cartilage calcification","obsolete":false,"parents":["HP:0012306","HP:0100593"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cartilaginous ossification of rib"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006647","name":"Congenital microthorax","obsolete":false,"parents":["HP:0005257"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Chest wall pain in the area of the costochondral junctions.","id":"HP:0006649","name":"Costochondral pain","obsolete":false,"parents":["HP:0000919","HP:0012531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Costochondral junction pain"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006650","name":"Thickening of the lateral border of the scapula","obsolete":false,"parents":["HP:0000782"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thickening of the lateral border of the shoulder blade"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006655","name":"Rib segmentation abnormalities","obsolete":false,"parents":["HP:0000772"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006614","HP:0006653"],"definition":null,"id":"HP:0006657","name":"Hypoplasia of first ribs","obsolete":false,"parents":["HP:0000773"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic first rib"},{"scope":"EXACT","text":"Hypoplastic first ribs"},{"scope":"EXACT","text":"Small first rib"},{"scope":"EXACT","text":"Underdeveloped first rib"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006659","name":"Internally rotated shoulders","obsolete":false,"parents":["HP:0003043"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Internally rotated shoulders"}]} +{"alt_ids":[],"definition":"Absence of the clavicles as a developmental defect.","id":"HP:0006660","name":"Aplastic clavicle","obsolete":false,"parents":["HP:0006710"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent clavicles"},{"scope":"EXACT","text":"Absent collarbone"},{"scope":"EXACT","text":"Aplastic clavicles"}]} +{"alt_ids":[],"definition":"An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger).","id":"HP:0006665","name":"Coat hanger sign of ribs","obsolete":false,"parents":["HP:0000772"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Coat hanger sign of ribs"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006668","name":"Twelfth rib hypoplasia","obsolete":false,"parents":["HP:0000773"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small twelfth rib"},{"scope":"EXACT","text":"Underdeveloped twelfth rib"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006670","name":"Impaired myocardial contractility","obsolete":false,"parents":["HP:0006673"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006671","name":"Paroxysmal atrial tachycardia","obsolete":false,"parents":["HP:0004763"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006673","name":"Reduced systolic function","obsolete":false,"parents":["HP:0011025"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec.","id":"HP:0006677","name":"Prolonged QRS complex","obsolete":false,"parents":["HP:0025074"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intraventricular conduction delay"},{"scope":"EXACT","text":"Prolonged QRS complex on EKG"},{"scope":"EXACT","text":"QRS widening"}]} +{"alt_ids":[],"definition":"Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.","id":"HP:0006679","name":"Granulomatous coronary arteritis","obsolete":false,"parents":["HP:0006704","HP:0012089"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006681","name":"Absent atrioventricular node","obsolete":false,"parents":["HP:0001678"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006678","HP:0034041"],"definition":"Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.","id":"HP:0006682","name":"Premature ventricular contraction","obsolete":false,"parents":["HP:0004308"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extra heart beat"},{"scope":"RELATED","text":"Missed heartbeat"},{"scope":"EXACT","text":"Premature ventricular beat"},{"scope":"EXACT","text":"Premature ventricular contractions"},{"scope":"RELATED","text":"Skipped heartbeat"},{"scope":"EXACT","text":"Ventricular ectopics"},{"scope":"EXACT","text":"Ventricular extrasystoles"},{"scope":"EXACT","text":"Ventricular premature beat"}]} +{"alt_ids":[],"definition":"An abnormality of filling of a ventricle with blood during diastole.","id":"HP:0006683","name":"Abnormal ventricular filling","obsolete":false,"parents":["HP:0030872"],"replaced_by":[],"synonyms":[]} 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cell.","id":"HP:0006802","name":"Abnormal anterior horn cell morphology","obsolete":false,"parents":["HP:0000759","HP:0002450"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Abnormality of the anterior horn cell"},{"scope":"EXACT","text":"Abnormality of the anterior horn cells"},{"scope":"EXACT","text":"Anomaly of the anterior horn cells"},{"scope":"EXACT","text":"Anterior horn cell disease"}]} +{"alt_ids":[],"definition":"Perceptual experiences that are vivid, intense, and sensory in nature occur in the absence of corresponding stimuli from the external environment.","id":"HP:0006803","name":"Vivid hallucination","obsolete":false,"parents":["HP:0002367"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.","id":"HP:0006808","name":"Cerebral 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clonic seizures"}]} +{"alt_ids":["HP:0005690","HP:0007080"],"definition":"Absence or underdevelopment of the vermis of cerebellum.","id":"HP:0006817","name":"Aplasia/Hypoplasia of the cerebellar vermis","obsolete":false,"parents":["HP:0002334","HP:0007360"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Cerebellar vermis aplasia or hypoplasia"},{"scope":"EXACT","text":"Cerebellar vermis aplasia/hypoplasia"},{"scope":"EXACT","text":"Hypo/aplastic vermis"}]} +{"alt_ids":[],"definition":"A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm.","id":"HP:0006818","name":"4-layered lissencephaly","obsolete":false,"parents":["HP:0001339"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Classic lissencephaly"},{"scope":"EXACT","text":"Four-layered lissencephaly"},{"scope":"EXACT","text":"Lissencephaly, type I"},{"scope":"EXACT","text":"Type 1 lissencephaly"},{"scope":"EXACT","text":"Type I lissencephaly"}]} +{"alt_ids":[],"definition":"A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum.","id":"HP:0006821","name":"Frontal polymicrogyria","obsolete":false,"parents":["HP:0002126"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Polymicrogyria, anterior to posterior gradient"}]} +{"alt_ids":["HP:0001353","HP:0002377"],"definition":null,"id":"HP:0006824","name":"Cranial nerve paralysis","obsolete":false,"parents":["HP:0031910"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cranial nerve palsies"},{"scope":"EXACT","text":"Cranial nerve palsy"},{"scope":"EXACT","text":"Cranial nerve paresis"}]} +{"alt_ids":[],"definition":"An abnormally pale appearance of the dorsal portion of the gray substance of the spinal cord. This finding can be observed by histological examination.","id":"HP:0006825","name":"Pallor of dorsal columns of the spinal cord","obsolete":false,"parents":["HP:0011397"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006827","name":"Atrophy of the spinal cord","obsolete":false,"parents":["HP:0007344"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Degeneration of the spinal cord"}]} +{"alt_ids":["HP:0002347"],"definition":"A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.","id":"HP:0006829","name":"Severe muscular hypotonia","obsolete":false,"parents":["HP:0001252"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypotonia, severe"},{"scope":"EXACT","text":"Severely decreased muscle tone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006830","name":"obsolete Severe neonatal hypotonia in males","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy.","id":"HP:0006834","name":"Developmental stagnation at onset of seizures","obsolete":false,"parents":["HP:0007281"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of Horner syndrome with congenital onset.","id":"HP:0006837","name":"Congenital Horner syndrome","obsolete":false,"parents":["HP:0002277"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.","id":"HP:0006844","name":"Absent patellar reflexes","obsolete":false,"parents":["HP:0002522"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent knee jerk reflex"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006846","name":"Acute encephalopathy","obsolete":false,"parents":["HP:0001298"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Developmental defect characterized by a small and malformed corpus callosum.","id":"HP:0006849","name":"Hypodysplasia of the corpus callosum","obsolete":false,"parents":["HP:0002079"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of the ventral portion of the pons.","id":"HP:0006850","name":"Hypoplasia of the ventral pons","obsolete":false,"parents":["HP:0012110"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Underdeveloped ventral pons"}]} +{"alt_ids":[],"definition":"Multiple neurofibromas of the spinal nerve roots with a symmetric distribution.","id":"HP:0006851","name":"Symmetric spinal nerve root neurofibromas","obsolete":false,"parents":["HP:0009735"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spinal nerve root neurofibromas, symmetric, multiple"}]} +{"alt_ids":[],"definition":"The occurrence of repeated episodes of generalized muscular hypotonia.","id":"HP:0006852","name":"Episodic generalized hypotonia","obsolete":false,"parents":["HP:0001290"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Episodic generalised hypotonia"}]} +{"alt_ids":["HP:0007121","HP:0007312"],"definition":"Wasting (atrophy) of the vermis of cerebellum.","id":"HP:0006855","name":"Cerebellar vermis atrophy","obsolete":false,"parents":["HP:0001272","HP:0002334"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atrophy of cerebellar vermis"},{"scope":"EXACT","text":"Atrophy of the cerebellar vermis"},{"scope":"EXACT","text":"Vermian atrophy"}]} +{"alt_ids":["HP:0007056","HP:0007148"],"definition":"A loss or impairment of the sensation of the relative position of parts of the body and joint position occurring at distal joints.","id":"HP:0006858","name":"Impaired distal proprioception","obsolete":false,"parents":["HP:0002936","HP:0010831"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Distal sensory loss of proprioception"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006859","name":"Posterior leukoencephalopathy","obsolete":false,"parents":["HP:0002352"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.","id":"HP:0006863","name":"Severe expressive language delay","obsolete":false,"parents":["HP:0002474"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006865","name":"Sensorimotor polyneuropathy affecting arms more than legs","obsolete":false,"parents":["HP:0009830"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006866","name":"Midline central nervous system lipomas","obsolete":false,"parents":["HP:0100251"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Midline CNS lipomas"}]} +{"alt_ids":[],"definition":"A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally.","id":"HP:0006870","name":"Lobar holoprosencephaly","obsolete":false,"parents":["HP:0001360"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001322"],"definition":"Underdevelopment of the cerebrum.","id":"HP:0006872","name":"Cerebral hypoplasia","obsolete":false,"parents":["HP:0007364"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small cerebrum"},{"scope":"EXACT","text":"Underdeveloped cerebrum"}]} +{"alt_ids":[],"definition":"A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.","id":"HP:0006873","name":"Symmetrical progressive peripheral demyelination","obsolete":false,"parents":["HP:0007262"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006877","name":"obsolete Mental retardation, in some","obsolete":true,"parents":[],"replaced_by":["HP:0001249"],"synonyms":[]} +{"alt_ids":[],"definition":"Atrophy affecting the pons and the cerebellum.","id":"HP:0006879","name":"Pontocerebellar atrophy","obsolete":false,"parents":["HP:0001272","HP:0007361"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cerebellopontine atrophy"}]} +{"alt_ids":["HP:0006761"],"definition":"A hemangioblastoma of the cerebellum.","id":"HP:0006880","name":"Cerebellar hemangioblastoma","obsolete":false,"parents":["HP:0001317","HP:0010797"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hemangioblastoma, sporadic cerebellar"}]} +{"alt_ids":[],"definition":"A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.","id":"HP:0006881","name":"Diffuse peripheral demyelination","obsolete":false,"parents":["HP:0011096"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006882","name":"Severe hydrocephalus","obsolete":false,"parents":["HP:0000238"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A decrease in the ability to perceive vibration in the distal portions of the limbs.","id":"HP:0006886","name":"Impaired distal vibration sensation","obsolete":false,"parents":["HP:0002495"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased distal vibration sense"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006887","name":"obsolete Intellectual disability, progressive","obsolete":true,"parents":[],"replaced_by":["HP:0001249"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006888","name":"Meningoencephalocele","obsolete":false,"parents":["HP:0002084"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.","id":"HP:0006889","name":"Borderline intellectual disability","obsolete":false,"parents":["HP:0001249"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intellectual disability, borderline"},{"scope":"EXACT","text":"Mental retardation, borderline"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006891","name":"Thick cerebral cortex","obsolete":false,"parents":["HP:0002538"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum.","id":"HP:0006892","name":"Frontotemporal cerebral atrophy","obsolete":false,"parents":["HP:0002059"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cerebral atrophy, frontotemporal"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006893","name":"obsolete Severely dysplastic cerebellum","obsolete":true,"parents":[],"replaced_by":["HP:0007033"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006894","name":"Hypoplastic olfactory lobes","obsolete":false,"parents":["HP:0002977","HP:0025057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006895","name":"Lower limb hypertonia","obsolete":false,"parents":["HP:0002509"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hallucinations occurring during the transition from sleep to wakefulness.","id":"HP:0006896","name":"Hypnopompic hallucination","obsolete":false,"parents":["HP:4000063","HP:5200297"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hallucinations while awaking"}]} +{"alt_ids":["HP:0011349"],"definition":"Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia.","id":"HP:0006897","name":"Abducens palsy","obsolete":false,"parents":["HP:0006824"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abducens nerve palsy"},{"scope":"EXACT","text":"Abducens nerve paralysis"},{"scope":"EXACT","text":"Abducens nerve paresis"},{"scope":"EXACT","text":"Cranial nerve VI palsy"},{"scope":"EXACT","text":"Lateral rectus muscle denervation paresis"},{"scope":"EXACT","text":"Sixth nerve palsy"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006899","name":"Fusion of the cerebellar hemispheres","obsolete":false,"parents":["HP:0001317"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006901","name":"obsolete Impaired thermal sensitivity","obsolete":true,"parents":[],"replaced_by":["HP:0010829"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006903","name":"Congenital peripheral neuropathy","obsolete":false,"parents":["HP:0009830"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006904","name":"Late-onset spinocerebellar degeneration","obsolete":false,"parents":["HP:0002503"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of calcium deposition within brain structures that is present already at the time of birth.","id":"HP:0006906","name":"Congenital intracerebral calcification","obsolete":false,"parents":["HP:0002514"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Atrophy of the frontal cortex.","id":"HP:0006913","name":"Frontal cortical atrophy","obsolete":false,"parents":["HP:0002120"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Frontal cortex degeneration"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006915","name":"Inability to walk by childhood/adolescence","obsolete":false,"parents":["HP:0002540"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inability to walk by childhood/adolescence"}]} +{"alt_ids":[],"definition":"Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons.","id":"HP:0006916","name":"Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material","obsolete":false,"parents":["HP:0003205"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Intraaxonal accumulation of curvilinear profiles"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006918","name":"Diffuse cerebral sclerosis","obsolete":false,"parents":["HP:0002060"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006919","name":"obsolete Abnormal aggressive, impulsive or violent behavior","obsolete":true,"parents":[],"replaced_by":["HP:0000718"],"synonyms":[]} +{"alt_ids":[],"definition":"Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature.","id":"HP:0006921","name":"Axial muscle stiffness","obsolete":false,"parents":["HP:0003552","HP:0040286"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006926","name":"obsolete Metachromatic leukodystrophy variant","obsolete":true,"parents":[],"replaced_by":["HP:0002415"],"synonyms":[]} +{"alt_ids":[],"definition":"Excessive number of small gyri (convolutions) on the surface of one side of the brain.","id":"HP:0006927","name":"Unilateral polymicrogyria","obsolete":false,"parents":["HP:0002126"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage.","id":"HP:0006929","name":"Hypoglycemic encephalopathy","obsolete":false,"parents":["HP:0001298"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe.","id":"HP:0006930","name":"Frontoparietal cortical dysplasia","obsolete":false,"parents":["HP:0002539"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pericallosal lipomas are congenital soft masses of adipose cells encapsulated by a thin layer of fibrous tissue, appearing adjacent to the corpus callosum of the brain.","id":"HP:0006931","name":"Pericallosal lipoma","obsolete":false,"parents":["HP:0001273","HP:0006866"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lipoma of corpus callosum"}]} +{"alt_ids":[],"definition":"Relatively short-lived periods of psychosis are characterized by the sudden onset of severe disturbances in perception, thinking, and behavior. These episodes typically last for a brief duration, generally ranging from a few days to a few weeks, and are often triggered by a significant stressor or traumatic event.","id":"HP:0006932","name":"Transient psychotic episodes","obsolete":false,"parents":["HP:5200430"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brief psychotic episodes"},{"scope":"EXACT","text":"Brief reactive psychosis"}]} +{"alt_ids":[],"definition":"Nystagmus dating from or present at birth.","id":"HP:0006934","name":"Congenital nystagmus","obsolete":false,"parents":["HP:0000639"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Nystagmus, congenital"}]} +{"alt_ids":["HP:0006981"],"definition":"A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.","id":"HP:0006937","name":"Impaired distal tactile sensation","obsolete":false,"parents":["HP:0002936","HP:0010830"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased distal touch sense"},{"scope":"EXACT","text":"Decreased touch sensation in extremities"}]} +{"alt_ids":["HP:0007144"],"definition":"A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles.","id":"HP:0006938","name":"Impaired vibration sensation at ankles","obsolete":false,"parents":["HP:0002166","HP:0006886"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased vibration sense at ankles"},{"scope":"EXACT","text":"Decreased vibration sense in feet"},{"scope":"EXACT","text":"Impaired vibration sensation at ankles"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006943","name":"Diffuse spongiform leukoencephalopathy","obsolete":false,"parents":["HP:0002352"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A complete loss of the ability to perceive vibration.","id":"HP:0006944","name":"Abolished vibration sense","obsolete":false,"parents":["HP:0002495"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Apallesthesia"}]} +{"alt_ids":[],"definition":"An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.","id":"HP:0006946","name":"Recurrent meningitis","obsolete":false,"parents":["HP:0011450"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006949","name":"Episodic peripheral neuropathy","obsolete":false,"parents":["HP:0009830"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006951","name":"Retrocerebellar cyst","obsolete":false,"parents":["HP:0002350"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007168"],"definition":"Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.","id":"HP:0006955","name":"Olivopontocerebellar hypoplasia","obsolete":false,"parents":["HP:0001321","HP:0012110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006796","HP:0006945","HP:0007173"],"definition":null,"id":"HP:0006956","name":"Lateral ventricle dilatation","obsolete":false,"parents":["HP:0002119","HP:0030047"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dilatation of lateral cerebral ventricles"},{"scope":"EXACT","text":"Dilation of lateral ventricles"},{"scope":"EXACT","text":"Enlarged lateral ventricles"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006957","name":"obsolete Loss of ability to walk","obsolete":true,"parents":[],"replaced_by":["HP:0002505"],"synonyms":[]} +{"alt_ids":["HP:0003151","HP:0004462","HP:0006923"],"definition":"An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.","id":"HP:0006958","name":"Abnormal auditory evoked potentials","obsolete":false,"parents":["HP:0030177","HP:0430106"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal brainstem auditory-evoked potentials"}]} +{"alt_ids":[],"definition":"Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.","id":"HP:0006959","name":"Proximal spinal muscular atrophy","obsolete":false,"parents":["HP:0007269"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of calcium deposition in the choroid plexus.","id":"HP:0006960","name":"Choroid plexus calcification","obsolete":false,"parents":["HP:0007376","HP:0430048"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Calcified choroid plexus"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006961","name":"Jerky head movements","obsolete":false,"parents":["HP:0002457"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Head jerking"},{"scope":"EXACT","text":"Jerking head movements"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006962","name":"Gait instability, worse in the dark","obsolete":false,"parents":["HP:0002317"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unstable walking, worse in the dark"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006964","name":"Cerebral cortical neurodegeneration","obsolete":false,"parents":["HP:0007369"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006965","name":"Acute necrotizing encephalopathy","obsolete":false,"parents":["HP:0006846"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia.","id":"HP:0006970","name":"Periventricular leukomalacia","obsolete":false,"parents":["HP:0002518"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"PVL"}]} +{"alt_ids":[],"definition":"A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue.","id":"HP:0006976","name":"Necrotizing encephalopathy","obsolete":false,"parents":["HP:0001298"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deficit in grammar, including syntax and morphology.","id":"HP:0006977","name":"Deficit in grammar","obsolete":false,"parents":["HP:0002463"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Grammar-specific speech disorder"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006978","name":"Dysmyelinating leukodystrophy","obsolete":false,"parents":["HP:0002415"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality of an individual's circadian rhythm that affects the timing of sleeping and being awake is referred to as a sleep-wake disorder.","id":"HP:0006979","name":"Sleep-wake cycle disturbance","obsolete":false,"parents":["HP:0002360"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Internal-clock disorders"},{"scope":"EXACT","text":"Sleep phase disturbance"},{"scope":"EXACT","text":"Sleep-wake cycle disorders"},{"scope":"EXACT","text":"Sleep-wake cycle disturbance"},{"scope":"EXACT","text":"Sleep-wake mistiming"}]} +{"alt_ids":[],"definition":"Leukoencephalopathy that gets more severe with time.","id":"HP:0006980","name":"Progressive leukoencephalopathy","obsolete":false,"parents":["HP:0002352"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Leukoencephalopathy, progressive"}]} +{"alt_ids":[],"definition":null,"id":"HP:0006983","name":"obsolete Slowly progressive spastic quadriparesis","obsolete":true,"parents":[],"replaced_by":["HP:0002510"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006984","name":"obsolete Distal sensory loss of all modalities","obsolete":true,"parents":[],"replaced_by":["HP:0003409"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0006986","name":"Upper limb spasticity","obsolete":false,"parents":["HP:0034353"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spastic upper extremities"},{"scope":"EXACT","text":"Spastic upper extremity"},{"scope":"EXACT","text":"Spastic upper limb"},{"scope":"EXACT","text":"Spastic upper limbs"},{"scope":"EXACT","text":"Spasticity in upper extremities"},{"scope":"EXACT","text":"Spasticity in upper extremity"},{"scope":"EXACT","text":"Spasticity in upper limb"},{"scope":"EXACT","text":"Spasticity in upper limbs"},{"scope":"EXACT","text":"Spasticity of upper extremities"},{"scope":"EXACT","text":"Spasticity of upper extremity"},{"scope":"EXACT","text":"Spasticity of upper limb"},{"scope":"EXACT","text":"Spasticity of upper limbs"},{"scope":"EXACT","text":"Uncontrollable movement in upper arms"},{"scope":"EXACT","text":"Upper extremities spasticity"},{"scope":"EXACT","text":"Upper extremity spasticity"}]} +{"alt_ids":[],"definition":"A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged.","id":"HP:0006988","name":"Alobar holoprosencephaly","obsolete":false,"parents":["HP:0001360"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006996"],"definition":"Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. 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This feature is measured by nerve conduction studies.","id":"HP:0007078","name":"Decreased amplitude of sensory action potentials","obsolete":false,"parents":["HP:0030179"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007081","name":"obsolete Late-onset muscular dystrophy","obsolete":true,"parents":[],"replaced_by":["HP:0003560"],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in size of the third ventricle.","id":"HP:0007082","name":"Dilated third ventricle","obsolete":false,"parents":["HP:0002119","HP:0010951"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007083","name":"Hyperactive patellar reflex","obsolete":false,"parents":["HP:0002395","HP:0007054"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Brisk knee jerk"},{"scope":"EXACT","text":"Hyperreflexia in knees"},{"scope":"EXACT","text":"Overactive knee reflex"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007086","name":"Social and occupational deterioration","obsolete":false,"parents":["HP:0001268"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007087","name":"obsolete Involuntary jerking movements","obsolete":true,"parents":[],"replaced_by":["HP:0001336"],"synonyms":[]} +{"alt_ids":[],"definition":"Fasciculations affecting the tongue muscle and the musculature of the face.","id":"HP:0007089","name":"Facial-lingual fasciculations","obsolete":false,"parents":["HP:0002380","HP:0010546"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007095","name":"obsolete Frontoparietal polymicrogyria","obsolete":true,"parents":[],"replaced_by":["HP:0012650"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007096","name":"Hypoplasia of the optic tract","obsolete":false,"parents":["HP:0011000"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Underdeveloped optic tract"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007097","name":"Cranial nerve motor loss","obsolete":false,"parents":["HP:0001291"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002351"],"definition":"Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements.","id":"HP:0007098","name":"Paroxysmal choreoathetosis","obsolete":false,"parents":["HP:0001266"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Choreoathetosis, episodic"},{"scope":"EXACT","text":"Choreoathetosis, intermittent"}]} +{"alt_ids":["HP:0002440"],"definition":"Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. 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Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. 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This term refers to a localized hyperintensity affecting a particular region of the basal ganglia.","id":"HP:0007183","name":"Focal T2 hyperintense basal ganglia lesion","obsolete":false,"parents":["HP:0012751"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Hyperintense lesions in the basal ganglia on MRI"}]} +{"alt_ids":[],"definition":"Loss of awareness of oneself or one's surroundings, involving (i) a loss of normal motor control is evident as flaccidity or stiffness, either of which can be accompanied by jerking movements, and postural control is lost so that patients fall if they are in an upright position; (ii) normal responsiveness is lost; and (iii) the patient experiences amnesia for the event. 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+{"alt_ids":[],"definition":null,"id":"HP:0007221","name":"Progressive truncal ataxia","obsolete":false,"parents":["HP:0002078"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007227","name":"obsolete Macrogyria","obsolete":true,"parents":[],"replaced_by":["HP:0001302"],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles.","id":"HP:0007229","name":"Intracerebral periventricular calcifications","obsolete":false,"parents":["HP:0002514"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies.","id":"HP:0007230","name":"Decreased distal sensory nerve action potential","obsolete":false,"parents":["HP:0007078"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007232","name":"Spinocerebellar tract disease in lower limbs","obsolete":false,"parents":["HP:0002503"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration.","id":"HP:0007233","name":"Clusters of axonal regeneration","obsolete":false,"parents":["HP:0003450"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007236","name":"Recurrent subcortical infarcts","obsolete":false,"parents":["HP:0010993"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007238","name":"Nonarteriosclerotic cerebral calcification","obsolete":false,"parents":["HP:0002514"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cerebral calcification, nonarteriosclerotic"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007239","name":"Congenital encephalopathy","obsolete":false,"parents":["HP:0001298"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002142"],"definition":"A type of gait ataxia displaying progression of clinical severity.","id":"HP:0007240","name":"Progressive gait ataxia","obsolete":false,"parents":["HP:0002066"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gait ataxia, progressive"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007249","name":"Decreased number of small peripheral myelinated nerve fibers","obsolete":false,"parents":["HP:0003380"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased number of small peripheral myelinated nerve fibres"}]} +{"alt_ids":[],"definition":"Alternating and recurrent weakness of the external ocular muscles.","id":"HP:0007250","name":"Recurrent external ophthalmoplegia","obsolete":false,"parents":["HP:0000544"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003488","HP:0007161","HP:0007225","HP:0007275","HP:0007324","HP:0007347"],"definition":"Functional neurological abnormalities related to dysfunction of the pyramidal tract.","id":"HP:0007256","name":"Abnormal pyramidal sign","obsolete":false,"parents":["HP:0002423","HP:0002493"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Corticospinal signs"},{"scope":"EXACT","text":"Pyramidal signs"},{"scope":"EXACT","text":"Pyramidal tract signs"}]} +{"alt_ids":[],"definition":"A severe loss of myelin from nerve fibers in the central nervous system.","id":"HP:0007258","name":"Severe demyelination of the white matter","obsolete":false,"parents":["HP:0007305"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006853"],"definition":"A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers.","id":"HP:0007260","name":"Type II lissencephaly","obsolete":false,"parents":["HP:0001339"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cobblestone lissencephaly"},{"scope":"EXACT","text":"Lissencephaly type II"},{"scope":"EXACT","text":"Type 2 lissencephaly"}]} +{"alt_ids":[],"definition":"A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.","id":"HP:0007262","name":"Symmetric peripheral demyelination","obsolete":false,"parents":["HP:0011096"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord.","id":"HP:0007263","name":"Spinocerebellar atrophy","obsolete":false,"parents":["HP:0001272"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Agenesis of the midbrain.","id":"HP:0007265","name":"Absent mesencephalon","obsolete":false,"parents":["HP:0034258"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007134","HP:0007217"],"definition":"Defective structure and function of myelin sheaths of the white matter of the brain.","id":"HP:0007266","name":"Cerebral dysmyelination","obsolete":false,"parents":["HP:0002500","HP:0011400"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Areas of dysmyelination on MRI"},{"scope":"EXACT","text":"Dysmyelination of the brain"},{"scope":"RELATED","text":"White matter dysmyelination/demyelination"}]} +{"alt_ids":["HP:0003446"],"definition":"An abnormality characterized by chronic impairment of the normal functioning of the axons.","id":"HP:0007267","name":"Chronic axonal neuropathy","obsolete":false,"parents":["HP:0003477"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic sural axonal neuropathy"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007268","name":"Aprosencephaly","obsolete":false,"parents":["HP:0007364"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.","id":"HP:0007269","name":"Spinal muscular atrophy","obsolete":false,"parents":["HP:0003202"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spinal muscle degeneration"},{"scope":"EXACT","text":"Spinal muscle wasting"}]} +{"alt_ids":[],"definition":"An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.","id":"HP:0007270","name":"Atypical absence seizure","obsolete":false,"parents":["HP:0002121"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atypical absence"},{"scope":"EXACT","text":"Atypical absence seizures"},{"scope":"EXACT","text":"Atypical petit mal seizures"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007271","name":"Occipital myelomeningocele","obsolete":false,"parents":["HP:0002436"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006856"],"definition":null,"id":"HP:0007272","name":"Progressive psychomotor deterioration","obsolete":false,"parents":["HP:0002344"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Progressive mental and motor deterioration"}]} +{"alt_ids":[],"definition":"An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis.","id":"HP:0007274","name":"Recurrent bacterial meningitis","obsolete":false,"parents":["HP:0006946","HP:5210217"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007277","name":"Paucity of anterior horn motor neurons","obsolete":false,"parents":["HP:0002450"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007280","name":"Acute infantile spinal muscular atrophy","obsolete":false,"parents":["HP:0007269"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007130","HP:0007198"],"definition":"A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills.","id":"HP:0007281","name":"Developmental stagnation","obsolete":false,"parents":["HP:0012759"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Developmental arrest"}]} +{"alt_ids":[],"definition":"Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve.","id":"HP:0007285","name":"Facial palsy secondary to cranial hyperostosis","obsolete":false,"parents":["HP:0005465"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Facial palsy caused by enlargement of cranial bones"},{"scope":"EXACT","text":"Facial palsy caused by excessive growth of facial bones"},{"scope":"EXACT","text":"Facial palsy caused by overgrowth of cranial bones"},{"scope":"EXACT","text":"Facial palsy secondary to hypertrophy of cranial bones"}]} +{"alt_ids":[],"definition":"Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other.","id":"HP:0007286","name":"Horizontal jerk nystagmus","obsolete":false,"parents":["HP:0000666"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007049"],"definition":"Fasciculations affecting the musculature of the arms and legs.","id":"HP:0007289","name":"Limb fasciculations","obsolete":false,"parents":["HP:0002380","HP:0010546","HP:0040064"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Limb fasciculation"}]} +{"alt_ids":["HP:0006985"],"definition":"A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle.","id":"HP:0007291","name":"Posterior fossa cyst","obsolete":false,"parents":["HP:0000932","HP:0010576"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007293","name":"Anterior sacral meningocele","obsolete":false,"parents":["HP:0005765"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007295","name":"Chaotic rapid conjugate ocular movements","obsolete":false,"parents":["HP:0012547"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007299","name":"Dysfunction of lateral corticospinal tracts","obsolete":false,"parents":["HP:0002493"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control.","id":"HP:0007301","name":"Oromotor apraxia","obsolete":false,"parents":["HP:0002186"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Oral-motor apraxia"}]} +{"alt_ids":["HP:0000755"],"definition":"Bipolar disorder is an illness of mood characterized by alternating episodes of elevated and depressed moods, which are interspersed with euthymic periods.","id":"HP:0007302","name":"Bipolar affective disorder","obsolete":false,"parents":["HP:0025783"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bipolar depression"},{"scope":"EXACT","text":"Bipolar disorder"},{"scope":"EXACT","text":"Manic depressive"}]} +{"alt_ids":["HP:0007222"],"definition":"A loss of myelin from nerve fibers in the central nervous system.","id":"HP:0007305","name":"CNS demyelination","obsolete":false,"parents":["HP:0011400"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Demyelination in central white matter"}]} +{"alt_ids":[],"definition":"Loss of neurological function in a time frame that is considered relatively quick, for instance, loss of a develomental milestone or substantial exacerbation of neurological complications such as seizures or feeding difficulties within a few months.","id":"HP:0007307","name":"Rapid neurologic deterioration","obsolete":false,"parents":["HP:0002344"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007308","name":"Extrapyramidal dyskinesia","obsolete":false,"parents":["HP:0002071","HP:0100660"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007311","name":"Short stepped shuffling gait","obsolete":false,"parents":["HP:0002362"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short stepped shuffling walk"}]} +{"alt_ids":["HP:0006874"],"definition":null,"id":"HP:0007313","name":"Cerebral degeneration","obsolete":false,"parents":["HP:0007369"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neuroaxonal degeneration in the brain"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007314","name":"obsolete White matter neuronal heterotopia","obsolete":true,"parents":[],"replaced_by":["HP:0002282"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007316","name":"obsolete Involuntary writhing movements","obsolete":true,"parents":[],"replaced_by":["HP:0002305"],"synonyms":[]} +{"alt_ids":[],"definition":"Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter.","id":"HP:0007321","name":"Deep white matter hypodensities","obsolete":false,"parents":["HP:0007103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deep cerebral white matter hypodensities"}]} +{"alt_ids":[],"definition":"A type of dystonia that affects all or most of the body.","id":"HP:0007325","name":"Generalized dystonia","obsolete":false,"parents":["HP:0001332"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised dystonia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007326","name":"Progressive choreoathetosis","obsolete":false,"parents":["HP:0001266"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007327","name":"Mixed demyelinating and axonal polyneuropathy","obsolete":false,"parents":["HP:0009830","HP:0012447"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002713"],"definition":"Reduced ability to perceive painful stimuli.","id":"HP:0007328","name":"Impaired pain sensation","obsolete":false,"parents":["HP:0010832"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased pain sensation"},{"scope":"EXACT","text":"Decreased pinprick sensation"},{"scope":"EXACT","text":"Impaired pain sensation"}]} +{"alt_ids":["HP:0004478"],"definition":"A type of anterior encephalocele in which there is a protrusion of the contents of the skull through a breach at the point where the frontal and ethmoidal bones meet. Frontoethmoidal encephalocele can be divided further into three distinct categories: nasofrontal, nasoethmoidal, and nasoorbital.","id":"HP:0007330","name":"Frontoethmoidal encephalocele","obsolete":false,"parents":["HP:0007035"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Frontal encephalocele"}]} +{"alt_ids":[],"definition":"Focal seizure characterized at onset by clonic movements affecting half of the face.","id":"HP:0007332","name":"Focal hemifacial clonic seizure","obsolete":false,"parents":["HP:0002266"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hemifacial seizures"}]} +{"alt_ids":["HP:0002424"],"definition":"Underdevelopment of the frontal lobe of the cerebrum.","id":"HP:0007333","name":"Hypoplasia of the frontal lobes","obsolete":false,"parents":["HP:0002538","HP:0006872"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Frontal lobe hypoplasia"},{"scope":"EXACT","text":"Hypoplastic frontal lobes"},{"scope":"EXACT","text":"Underdeveloped frontal lobe"}]} +{"alt_ids":["HP:0002602"],"definition":"A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.","id":"HP:0007334","name":"Bilateral tonic-clonic seizure with focal onset","obsolete":false,"parents":["HP:0002069","HP:0007359"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal seizure with secondary generalisation"},{"scope":"EXACT","text":"Focal seizure with secondary generalization"},{"scope":"EXACT","text":"Focal to bilateral tonic-clonic seizure"},{"scope":"EXACT","text":"Generalised tonic-clonic seizure with focal onset"},{"scope":"EXACT","text":"Generalised tonic-clonic seizure with partial onset"},{"scope":"EXACT","text":"Generalised tonic-clonic seizures with focal onset"},{"scope":"EXACT","text":"Generalized tonic-clonic seizure with focal onset"},{"scope":"EXACT","text":"Generalized tonic-clonic seizure with partial onset"},{"scope":"EXACT","text":"Generalized tonic-clonic seizures with focal onset"},{"scope":"EXACT","text":"Partial seizure with secondary generalisation"},{"scope":"EXACT","text":"Partial seizure with secondary generalization"},{"scope":"EXACT","text":"Partial seizures with secondary generalisation"},{"scope":"EXACT","text":"Partial seizures with secondary generalization"},{"scope":"EXACT","text":"Secondarily generalised tonic-clonic seizure"},{"scope":"EXACT","text":"Secondarily generalised tonic-clonic seizures"},{"scope":"EXACT","text":"Secondarily generalized tonic-clonic seizure"},{"scope":"EXACT","text":"Secondarily generalized tonic-clonic seizures"},{"scope":"EXACT","text":"Secondary generalised tonic clonic seizures"},{"scope":"EXACT","text":"Secondary generalised tonic-clonic seizures"},{"scope":"EXACT","text":"Secondary generalized tonic clonic seizures"},{"scope":"EXACT","text":"Secondary generalized tonic-clonic seizures"}]} +{"alt_ids":["HP:0006947"],"definition":"Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections.","id":"HP:0007335","name":"Recurrent encephalopathy","obsolete":false,"parents":["HP:0001298"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent cerebellar and extrapyramidal encephalopathy"}]} +{"alt_ids":[],"definition":"A saccade that overshoots the target with the dynamic saccade.","id":"HP:0007338","name":"Hypermetric saccades","obsolete":false,"parents":["HP:0000570"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002065","HP:0002477","HP:0009047"],"definition":"Weakness of the muscles of the legs.","id":"HP:0007340","name":"Lower limb muscle weakness","obsolete":false,"parents":["HP:0003690"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Leg weakness"},{"scope":"EXACT","text":"Lower extremity weakness"},{"scope":"EXACT","text":"Lower limb muscle weakness"},{"scope":"EXACT","text":"Lower limb weakness"},{"scope":"EXACT","text":"Muscle weakness in lower limbs"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007341","name":"Diffuse swelling of cerebral white matter","obsolete":false,"parents":["HP:0002500"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. 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+{"alt_ids":[],"definition":null,"id":"HP:0007407","name":"Excessive skin wrinkling on dorsum of hands and fingers","obsolete":false,"parents":["HP:0007392"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excessive skin wrinkling on back of hands and fingers"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infection by the protozan parasite of the genus Leishmania.","id":"HP:0007408","name":"Tegumentary leishmaniasis susceptibility","obsolete":false,"parents":["HP:0005386"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007409","name":"obsolete Absence of subcutaneous fat over entire body except buttocks, hips, and thighs","obsolete":true,"parents":[],"replaced_by":["HP:0003758"],"synonyms":[]} +{"alt_ids":["HP:0007624"],"definition":"An abnormally increased perspiration on palms and soles.","id":"HP:0007410","name":"Palmoplantar 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feet","obsolete":false,"parents":["HP:0100678"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wrinkled skin of hands and feet in newborn"}]} +{"alt_ids":["HP:0000981"],"definition":"Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy.","id":"HP:0007417","name":"Discoid lupus rash","obsolete":false,"parents":["HP:0000988"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Discoid lupus erythematosus"}]} +{"alt_ids":[],"definition":"Loss of all scalp hair.","id":"HP:0007418","name":"Alopecia totalis","obsolete":false,"parents":["HP:0001596"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Total alopecia"}]} +{"alt_ids":[],"definition":"Spontaneous development of hematomas (hematoma) or bruises without significant trauma.","id":"HP:0007420","name":"Spontaneous hematomas","obsolete":false,"parents":["HP:0001933"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks.","id":"HP:0007421","name":"Telangiectases of the cheeks","obsolete":false,"parents":["HP:0007380"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Telangiectasia on the cheeks"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007425","name":"Hyperextensible skin of face","obsolete":false,"parents":["HP:0007458"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperelastic face skin"},{"scope":"EXACT","text":"Stretchable face skin"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007427","name":"Reticulated skin pigmentation","obsolete":false,"parents":["HP:0001000"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Reticular pigmentation pattern"},{"scope":"RELATED","text":"Reticulate skin pigmentation"}]} +{"alt_ids":[],"definition":"Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa.","id":"HP:0007428","name":"Telangiectasia of the oral mucosa","obsolete":false,"parents":["HP:0000228"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Angioectasia of the oral mucosa"},{"scope":"EXACT","text":"Angioectasia of the oral mucous membrane"},{"scope":"EXACT","text":"Spider veins of the oral mucosa"},{"scope":"EXACT","text":"Telangiectasia of the oral mucous membrane"}]} +{"alt_ids":[],"definition":"The presence of two to five cafe-au-lait macules.","id":"HP:0007429","name":"Few cafe-au-lait spots","obsolete":false,"parents":["HP:0000957"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007575"],"definition":"Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","id":"HP:0007430","name":"Generalized edema","obsolete":false,"parents":["HP:0000969"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised oedema"},{"scope":"EXACT","text":"Generalised tissue oedema"},{"scope":"EXACT","text":"Generalized tissue edema"}]} +{"alt_ids":["HP:0007478","HP:0007484"],"definition":"An ichthyosiform abnormality of the skin with congenital onset.","id":"HP:0007431","name":"Congenital ichthyosiform erythroderma","obsolete":false,"parents":["HP:0008064"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital ichthyosis"},{"scope":"EXACT","text":"Ichthyosis, congenital"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007432","name":"Intermittent generalized erythematous papular rash","obsolete":false,"parents":["HP:0200034"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intermittent generalised erythematous papular rash"}]} +{"alt_ids":[],"definition":"Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology.","id":"HP:0007434","name":"Plaque-like facial hemangioma","obsolete":false,"parents":["HP:0000329"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hemangioma, facial, plaque-like"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007435","name":"obsolete Diffuse palmoplantar keratoderma","obsolete":true,"parents":[],"replaced_by":["HP:0007447"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007436","name":"obsolete Hair-nail ectodermal dysplasia","obsolete":true,"parents":[],"replaced_by":["HP:0000968"],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of multiple leiomyomas of the skin.","id":"HP:0007437","name":"Multiple cutaneous leiomyomas","obsolete":false,"parents":["HP:0008069"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007438","name":"Mottled pigmentation of the trunk and proximal extremities","obsolete":false,"parents":["HP:0001070"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007439","name":"Generalized keratosis follicularis","obsolete":false,"parents":["HP:0011368"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised keratosis follicularis"}]} +{"alt_ids":["HP:0007540"],"definition":null,"id":"HP:0007440","name":"Generalized hyperpigmentation","obsolete":false,"parents":["HP:0000953"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised hyperpigmentation"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007441","name":"Hyperpigmented/hypopigmented macules","obsolete":false,"parents":["HP:0009123","HP:0012733"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001044"],"definition":"Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.","id":"HP:0007443","name":"Partial albinism","obsolete":false,"parents":["HP:0001010"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital partial albinism on face, trunk, or limbs"},{"scope":"EXACT","text":"Congenital partial leucoderma"},{"scope":"EXACT","text":"Partial absent skin pigmentation"}]} +{"alt_ids":[],"definition":"A type of blistering that affects the skin of the palms of the hands and the soles of the feet.","id":"HP:0007446","name":"Palmoplantar blistering","obsolete":false,"parents":["HP:0033800","HP:0040211","HP:0100872"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007435"],"definition":"Diffuse abnormal thickening of the skin on the palms and soles.","id":"HP:0007447","name":"Diffuse palmoplantar hyperkeratosis","obsolete":false,"parents":["HP:0000972"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Diffuse palmoplantar keratoderma"},{"scope":"EXACT","text":"Hyperkeratosis, diffuse palmoplantar"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007448","name":"Hyperkeratosis over edematous areas","obsolete":false,"parents":["HP:0000962","HP:0000969"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007449","name":"Confetti-like hypopigmented macules","obsolete":false,"parents":["HP:0020073"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007450","name":"Increased groin pigmentation with raindrop depigmentation","obsolete":false,"parents":["HP:0007400","HP:0009123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inability to sweat on the same side of the face that is affected by ptosis and miosis. This is a feature of Horner syndrome.","id":"HP:0007451","name":"Ipsilateral lack of facial sweating","obsolete":false,"parents":["HP:0025276"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007611"],"definition":null,"id":"HP:0007452","name":"Midface capillary hemangioma","obsolete":false,"parents":["HP:0000996"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Midfacial capillary hemangioma"}]} +{"alt_ids":[],"definition":"Lichenification affecting primarily flexural areas of the skin.","id":"HP:0007453","name":"Flexural lichenification","obsolete":false,"parents":["HP:0100725"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lichenification in skin folds"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007455","name":"Adermatoglyphia","obsolete":false,"parents":["HP:0007477"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007456","name":"Progressive reticulate hyperpigmentation","obsolete":false,"parents":["HP:0007400"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Prominent thoracic and abdominal veins.","id":"HP:0007457","name":"Prominent veins on trunk","obsolete":false,"parents":["HP:0001015"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007458","name":"Focal hyperextensible skin","obsolete":false,"parents":["HP:0000974"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007459","name":"Generalized anhidrosis","obsolete":false,"parents":["HP:0025276"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised anhidrosis"},{"scope":"EXACT","text":"Generalised anhydrosis"},{"scope":"EXACT","text":"Generalised inability to sweat"},{"scope":"EXACT","text":"Generalized anhydrosis"},{"scope":"EXACT","text":"Generalized inability to sweat"}]} +{"alt_ids":[],"definition":"The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology.","id":"HP:0007460","name":"Autoamputation of digits","obsolete":false,"parents":["HP:0001218","HP:0005922"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007461","name":"Hemangiomatosis","obsolete":false,"parents":["HP:0001028"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot.","id":"HP:0007462","name":"Bitot spots of the conjunctiva","obsolete":false,"parents":["HP:0000502"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Bitot's spots"}]} +{"alt_ids":[],"definition":"Reduced number or density of facial hair.","id":"HP:0007464","name":"Sparse facial hair","obsolete":false,"parents":["HP:0008070"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sparse facial hair"}]} +{"alt_ids":[],"definition":"Abnormal thickening of the skin on the palms and soles with an honeycomb pattern.","id":"HP:0007465","name":"Honeycomb palmoplantar hyperkeratosis","obsolete":false,"parents":["HP:0000972"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007466","name":"Midfrontal capillary hemangioma","obsolete":false,"parents":["HP:0000996"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased amount of keratin (visible as white scales) surrounding hair follicles.","id":"HP:0007468","name":"Perifollicular hyperkeratosis","obsolete":false,"parents":["HP:0000962","HP:0031285"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cutis gyrata of palms and soles.","id":"HP:0007469","name":"Palmoplantar cutis gyrata","obsolete":false,"parents":["HP:0007477","HP:0040211","HP:0100872"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cutis gyrata of palms and soles"}]} +{"alt_ids":[],"definition":"Subcutaneous nodules that are located in the vicinity of joints.","id":"HP:0007470","name":"Periarticular subcutaneous nodules","obsolete":false,"parents":["HP:0001482"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007471","name":"Axillary and groin hyperpigmentation and hypopigmentation","obsolete":false,"parents":["HP:0009123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007473","name":"Crusting erythematous dermatitis","obsolete":false,"parents":["HP:0011123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet.","id":"HP:0007475","name":"Congenital bullous ichthyosiform erythroderma","obsolete":false,"parents":["HP:0007431"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullous congenital ichthyosiform erythroderma"},{"scope":"EXACT","text":"Epidermolytic hyperkeratosis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007476","name":"obsolete Anhidrotic ectodermal dysplasia","obsolete":true,"parents":[],"replaced_by":["HP:0000968"],"synonyms":[]} +{"alt_ids":["HP:0007422"],"definition":"An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.","id":"HP:0007477","name":"Abnormal dermatoglyphics","obsolete":false,"parents":["HP:0011356"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal fingerprints"},{"scope":"EXACT","text":"Dermatoglyphic abnormalities"}]} +{"alt_ids":["HP:0001021","HP:0007388","HP:0007512","HP:0007619","HP:0007625"],"definition":"The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.","id":"HP:0007479","name":"Congenital nonbullous ichthyosiform erythroderma","obsolete":false,"parents":["HP:0007431"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Collodion baby"},{"scope":"EXACT","text":"Congenital lamellar ichthyosis"},{"scope":"EXACT","text":"Congenital non-bullous ichthyosis"},{"scope":"EXACT","text":"Ichthyosis lammellaris"},{"scope":"EXACT","text":"Ichthyosis, congenital, nonblistering"},{"scope":"EXACT","text":"Nonbullous congenital ichthyosiform erythroderma"},{"scope":"EXACT","text":"Nonbullous congenital ichthyosis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007480","name":"Decreased sweating due to autonomic dysfunction","obsolete":false,"parents":["HP:0000966"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007481","name":"Hyperpigmented nevi","obsolete":false,"parents":["HP:0000995"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007482","name":"Generalized papillary lesions","obsolete":false,"parents":["HP:0011354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised papillary lesions"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007483","name":"Depigmentation/hyperpigmentation of skin","obsolete":false,"parents":["HP:0001000"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007519"],"definition":"Lack of subcutaneous adipose tissue.","id":"HP:0007485","name":"Absence of subcutaneous fat","obsolete":false,"parents":["HP:0008887"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent fat below the skin"},{"scope":"EXACT","text":"General absence of subcutaneous fat"},{"scope":"EXACT","text":"Lack of fatty tissue below the skin"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007486","name":"Cavernous hemangioma of the face","obsolete":false,"parents":["HP:0001048"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007488","name":"Diffuse skin atrophy","obsolete":false,"parents":["HP:0004334"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007405"],"definition":"Telangiectases (small dilated blood vessels) with a diffuse localization.","id":"HP:0007489","name":"Diffuse telangiectasia","obsolete":false,"parents":["HP:0001009"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Diffuse telangiectases"},{"scope":"EXACT","text":"Telangiectases, random body distribution"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007490","name":"Linear arrays of macular hyperkeratoses in flexural areas","obsolete":false,"parents":["HP:0000962"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007494","name":"Discrete 2 to 5-mm hyper- and hypopigmented macules","obsolete":false,"parents":["HP:0007441"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001599"],"definition":null,"id":"HP:0007495","name":"Prematurely aged appearance","obsolete":false,"parents":["HP:0011354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Precociously senile appearance"},{"scope":"EXACT","text":"Prematurely aged appearance"}]} +{"alt_ids":[],"definition":"Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction.","id":"HP:0007497","name":"Focal friction-related palmoplantar hyperkeratosis","obsolete":false,"parents":["HP:0000972"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperkeratosis, palmoplantar, focal friction-related"}]} +{"alt_ids":[],"definition":"Increased susceptibility to staphylococcal infections as manifested by recurrent episodes of staphylococcal infections.","id":"HP:0007499","name":"Recurrent staphylococcal infections","obsolete":false,"parents":["HP:0002718"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent staphylococcal infections"}]} +{"alt_ids":["HP:0007555","HP:0007594"],"definition":"The presence of fewer than normal sweat glands.","id":"HP:0007500","name":"Decreased number of sweat glands","obsolete":false,"parents":["HP:0000971"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased sweat glands"},{"scope":"EXACT","text":"Decreased sweat pores"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007501","name":"Streaks of hyperkeratosis along each finger onto the palm","obsolete":false,"parents":["HP:0000962"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007600"],"definition":"A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.","id":"HP:0007502","name":"Follicular hyperkeratosis","obsolete":false,"parents":["HP:0000962"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperkeratosis follicularis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007503","name":"Generalized ichthyosis","obsolete":false,"parents":["HP:0008064"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised ichthyosis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007504","name":"Diffuse slow skin atrophy","obsolete":false,"parents":["HP:0007488"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007505","name":"Progressive hyperpigmentation","obsolete":false,"parents":["HP:0000953"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007506","name":"Congenital absence of skin of limbs","obsolete":false,"parents":["HP:0007383"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Missing skin on limbs since birth"}]} +{"alt_ids":[],"definition":"Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands.","id":"HP:0007508","name":"Punctate palmar hyperkeratosis","obsolete":false,"parents":["HP:0010765"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007487"],"definition":null,"id":"HP:0007509","name":"Patchy hypo- and hyperpigmentation","obsolete":false,"parents":["HP:0009123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Patchy hypo- and hyper-pigmentation"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007510","name":"Focal dermal aplasia/hypoplasia","obsolete":false,"parents":["HP:0008065"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007511","name":"Mottled pigmentation of photoexposed areas","obsolete":false,"parents":["HP:0001070"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0000984","HP:0007419"],"definition":null,"id":"HP:0007513","name":"Generalized hypopigmentation","obsolete":false,"parents":["HP:0001010"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fair skin"},{"scope":"EXACT","text":"Generalised hypopigmentation"},{"scope":"EXACT","text":"Pale pigmentation"}]} +{"alt_ids":["HP:0007528"],"definition":"An abnormal accumulation of fluid beneath the skin on the back of the hands.","id":"HP:0007514","name":"Edema of the dorsum of hands","obsolete":false,"parents":["HP:0000969"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Edema of dorsum of hands"},{"scope":"EXACT","text":"Oedema of dorsum of hands"},{"scope":"EXACT","text":"Oedema of the dorsum of hands"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007515","name":"Hypoplastic pilosebaceous units","obsolete":false,"parents":["HP:0008065"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Loose and sagging skin of the fingers.","id":"HP:0007516","name":"Redundant skin on fingers","obsolete":false,"parents":["HP:0001582"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extra skin on fingers"}]} +{"alt_ids":["HP:0001016"],"definition":"Loose, wrinkled skin of hands and feet.","id":"HP:0007517","name":"Palmoplantar cutis laxa","obsolete":false,"parents":["HP:0000973","HP:0007605","HP:0100872"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excessive wrinkled skin of palms and soles"},{"scope":"EXACT","text":"Furrowed palms and soles"},{"scope":"EXACT","text":"Increased wrinkles of palms and soles"},{"scope":"EXACT","text":"Wrinkled palms and soles"},{"scope":"EXACT","text":"Wrinkled skin of hands and feet"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007519","name":"obsolete Lack of subcutaneous fatty tissue","obsolete":true,"parents":[],"replaced_by":["HP:0007485"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007521","name":"Irregular hyperpigmentation of back","obsolete":false,"parents":["HP:0007400"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007522","name":"Increased number of skin folds","obsolete":false,"parents":["HP:0008067"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased number of skin folds"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007524","name":"Atypical neurofibromatosis","obsolete":false,"parents":["HP:0001067"],"replaced_by":[],"synonyms":[]} 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onset.","id":"HP:0007534","name":"Congenital posterior occipital alopecia","obsolete":false,"parents":["HP:0011361"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007535","name":"Hypopigmented streaks","obsolete":false,"parents":["HP:0001010"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007536","name":"Aplasia cutis congenita of midline scalp vertex","obsolete":false,"parents":["HP:0004471"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A severe degree of photosensitivity of the skin.","id":"HP:0007537","name":"Severe photosensitivity","obsolete":false,"parents":["HP:0000992"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Severe sun sensitivity"}]} +{"alt_ids":[],"definition":"Presence of a cutaneous lipoma on the forehead.","id":"HP:0007541","name":"Frontal cutaneous lipoma","obsolete":false,"parents":["HP:0008069","HP:0012032"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lack of skin pigmentation (coloring) of the anterior chest.","id":"HP:0007542","name":"Absent pigmentation of the ventral chest","obsolete":false,"parents":["HP:0040007"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007543","name":"obsolete Epidermal hyperkeratosis","obsolete":true,"parents":[],"replaced_by":["HP:0000962"],"synonyms":[{"scope":"EXACT","text":"Increased thickness of skin epidermis"}]} +{"alt_ids":[],"definition":"Congenital large depigmented (white) macule of irergular rhomboid shape. 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+{"alt_ids":[],"definition":null,"id":"HP:0007607","name":"obsolete Hypohidrotic ectodermal dysplasia","obsolete":true,"parents":[],"replaced_by":["HP:0000968"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007608","name":"Abnormal palmar dermal ridges","obsolete":false,"parents":["HP:0001018"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia).","id":"HP:0007609","name":"Hypoproteinemic edema","obsolete":false,"parents":["HP:0000969"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoproteinemic oedema"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007610","name":"Blotching pigmentation of the skin","obsolete":false,"parents":["HP:0001000"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007613","name":"Spinous keratoses of palms and soles","obsolete":false,"parents":["HP:0000972"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Naevus flammeus localized in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns.","id":"HP:0007616","name":"Nevus flammeus nuchae","obsolete":false,"parents":["HP:0001052"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Angel's kiss"},{"scope":"EXACT","text":"Port-wine stain on neck"},{"scope":"RELATED","text":"Salmon patch"},{"scope":"EXACT","text":"Stork bite"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007617","name":"Fine, reticulate skin pigmentation","obsolete":false,"parents":["HP:0001000"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).","id":"HP:0007618","name":"Subcutaneous calcification","obsolete":false,"parents":["HP:0010766","HP:0011354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Skin calcification"}]} +{"alt_ids":["HP:0007507"],"definition":"The presence of leiomyoma of the skin.","id":"HP:0007620","name":"Cutaneous leiomyoma","obsolete":false,"parents":["HP:0008069"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cutaneous leiomyomas"},{"scope":"EXACT","text":"Cutaneous leiomyomata"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007621","name":"Telangiectasia of extensor surfaces","obsolete":false,"parents":["HP:0100585"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007623","name":"Pigmentation anomalies of sun-exposed skin","obsolete":false,"parents":["HP:0001000"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal pigmentation in sun-exposed skin"}]} +{"alt_ids":["HP:0005869"],"definition":"Osteomyelitis of the lower jaw.","id":"HP:0007626","name":"Mandibular osteomyelitis","obsolete":false,"parents":["HP:0000277","HP:0002754"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lower jaw bone infection"},{"scope":"EXACT","text":"Osteomyelitis, especially of the mandible"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007627","name":"Mandibular condyle aplasia","obsolete":false,"parents":["HP:0005790"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Absence of the condylar head of mandible"},{"scope":"NARROW","text":"Absence of the condylar neck of mandible"},{"scope":"NARROW","text":"Absence of the condylar process of mandible"},{"scope":"RELATED","text":"Agenesis of condylar head of mandible"},{"scope":"RELATED","text":"Agenesis of condylar neck of mandible"},{"scope":"RELATED","text":"Agenesis of condylar process of mandible"},{"scope":"NARROW","text":"Failure of development of condylar head of mandible"},{"scope":"NARROW","text":"Failure of development of condylar neck of mandible"},{"scope":"NARROW","text":"Failure of development of the condylar process of mandible"},{"scope":"NARROW","text":"Underdevelopment of condylar head of mandible"},{"scope":"NARROW","text":"Underdevelopment of condylar neck of mandible"},{"scope":"EXACT","text":"Underdevelopment of condylar process of mandible"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007628","name":"Mandibular condyle hypoplasia","obsolete":false,"parents":["HP:0005790"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased size of condylar process of mandible"},{"scope":"EXACT","text":"Decreased size of mandibular condyle"},{"scope":"NARROW","text":"Hypoplasia of condylar head of mandible"},{"scope":"NARROW","text":"Hypoplasia of condylar neck of mandible"},{"scope":"EXACT","text":"Hypoplasia of condylar process of mandible"},{"scope":"EXACT","text":"Hypoplasia of mandibular condyle"},{"scope":"EXACT","text":"Hypoplasia of subcondylar region of mandible"},{"scope":"RELATED","text":"Hypotrophic condylar process of mandible"},{"scope":"RELATED","text":"Hypotrophic mandibular condyle"},{"scope":"NARROW","text":"Small condylar head of mandible"},{"scope":"NARROW","text":"Small condylar neck of mandible"},{"scope":"EXACT","text":"Small mandibular condyle"}]} +{"alt_ids":["HP:0001143","HP:0001585"],"definition":"A developmental anomaly characterized by abnormal smallness of both eyes.","id":"HP:0007633","name":"Bilateral microphthalmos","obsolete":false,"parents":["HP:0000568"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormally small eyeball on both sides"},{"scope":"NARROW","text":"Bilateral nanophthalmos"},{"scope":"BROAD","text":"Decreased size of both eyeballs"},{"scope":"BROAD","text":"Decreased size of globes of eyes"},{"scope":"EXACT","text":"Microphthalmia, bilateral"}]} +{"alt_ids":[],"definition":"An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disk or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates.","id":"HP:0007634","name":"Nonarteritic anterior ischemic optic neuropathy","obsolete":false,"parents":["HP:0001138"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nonarteritic anterior ischaemic optic neuropathy"}]} +{"alt_ids":[],"definition":"A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.","id":"HP:0007641","name":"Dyschromatopsia","obsolete":false,"parents":["HP:0000551"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Color blindness"},{"scope":"EXACT","text":"Colour blindness"}]} +{"alt_ids":["HP:0007684","HP:0007861","HP:0007953","HP:0030638","HP:0030639","HP:0030640","HP:0030641"],"definition":"A usually nonprogressive (i.e., stationary) form of night blindness with early (presumed to be congenital) onset.","id":"HP:0007642","name":"Early-onset non-progressive night blindness","obsolete":false,"parents":["HP:0000662"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital night blindness"},{"scope":"EXACT","text":"Congenital stationary night blindness"},{"scope":"EXACT","text":"Night blindness since birth"},{"scope":"RELATED","text":"Night blindness, congenital"},{"scope":"RELATED","text":"Night blindness, congenital stationary"},{"scope":"RELATED","text":"Night blindness, congenital stationary, complete"},{"scope":"RELATED","text":"Night blindness, stationary"}]} +{"alt_ids":[],"definition":"Tractional retinal detachment at the periphery of the retina.","id":"HP:0007643","name":"Peripheral tractional retinal detachment","obsolete":false,"parents":["HP:0007917"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Peripheral traction retinal detachment"},{"scope":"EXACT","text":"Tractional retinal detachment at the periphery of the retina"}]} +{"alt_ids":[],"definition":"Lack of eyelashes on the lower lid.","id":"HP:0007646","name":"Absent lower eyelashes","obsolete":false,"parents":["HP:0000561"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent lower eyelashes"},{"scope":"NARROW","text":"Agenesis of lower eyelashes"},{"scope":"NARROW","text":"Aplasia of lower eyelashes"},{"scope":"EXACT","text":"Atrichia of lower eyelashes"},{"scope":"EXACT","text":"Failure of development of lower eyelashes"}]} +{"alt_ids":[],"definition":"Congenital abnormality of the extraocular muscles.","id":"HP:0007647","name":"Congenital extraocular muscle anomaly","obsolete":false,"parents":["HP:0008049"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of cataract with punctate opacities of the lens.","id":"HP:0007648","name":"Punctate cataract","obsolete":false,"parents":["HP:0010920"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Punctate lenticular opacities"}]} +{"alt_ids":[],"definition":"Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium. It can be solitary, clustered or multifocal, uni- or bilateral.","id":"HP:0007649","name":"Congenital hypertrophy of retinal pigment epithelium","obsolete":false,"parents":["HP:0011512"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007650","name":"Progressive ophthalmoplegia","obsolete":false,"parents":["HP:0000602"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007651","name":"Ectropion of lower eyelids","obsolete":false,"parents":["HP:0000656"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Everted lower eyelids"},{"scope":"BROAD","text":"Lower eyelid folded out"},{"scope":"EXACT","text":"Lower eyelid turned out"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007654","name":"obsolete Retinal striation","obsolete":true,"parents":[],"replaced_by":["HP:0007922"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007655","name":"Eversion of lateral third of lower eyelids","obsolete":false,"parents":["HP:0000656"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital defect of development characterized by absence of the lacrimal gland.","id":"HP:0007656","name":"Lacrimal gland aplasia","obsolete":false,"parents":["HP:0008038"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent tear gland"}]} +{"alt_ids":[],"definition":"Opacity of the entire lens nucleus.","id":"HP:0007657","name":"Diffuse nuclear cataract","obsolete":false,"parents":["HP:0100018"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007658","name":"Large hyperpigmented retinal spots","obsolete":false,"parents":["HP:0011512"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007659","name":"obsolete Decreased retinal pigmentation with dispersion","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007661","name":"Abnormality of chorioretinal pigmentation","obsolete":false,"parents":["HP:0000532"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001091","HP:0007693","HP:0007739","HP:0007969","HP:0008008"],"definition":null,"id":"HP:0007663","name":"Reduced visual acuity","obsolete":false,"parents":["HP:0000505"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased central vision"},{"scope":"EXACT","text":"Decreased clarity of vision"},{"scope":"EXACT","text":"Decreased visual acuity"},{"scope":"EXACT","text":"Poor visual acuity"}]} +{"alt_ids":[],"definition":"Abnormally curly or curved eyelashes.","id":"HP:0007665","name":"Curly eyelashes","obsolete":false,"parents":["HP:0000499"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curly eyelashes"}]} +{"alt_ids":[],"definition":"Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. 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Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude.","id":"HP:0007670","name":"Abnormal vestibulo-ocular reflex","obsolete":false,"parents":["HP:0001751"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal vestibuloocular reflex"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007675","name":"Progressive night blindness","obsolete":false,"parents":["HP:0000662"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Progressive night blindness"}]} +{"alt_ids":["HP:0000638","HP:0007724","HP:0007998"],"definition":"Congenital underdevelopment of the iris.","id":"HP:0007676","name":"Hypoplasia of the iris","obsolete":false,"parents":["HP:0008053"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic iris"},{"scope":"EXACT","text":"Iris hypoplasia"},{"scope":"EXACT","text":"Underdeveloped iris"}]} +{"alt_ids":["HP:0007878"],"definition":"Egg yolk-like (vitelliform) maculopathy is a lesion caused by the accumulation of material, often lipofuscin, in the subretinal space underlying the macula. 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These structures are mainly of mesenchymal origin.","id":"HP:0007700","name":"Ocular anterior segment dysgenesis","obsolete":false,"parents":["HP:0004328"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anterior chamber cleavage defect"},{"scope":"EXACT","text":"Anterior chamber cleavage disorder"},{"scope":"EXACT","text":"Anterior chamber malformation"},{"scope":"EXACT","text":"Anterior chamber mesodermal anomalies"},{"scope":"EXACT","text":"Anterior segment developmental abnormality"},{"scope":"EXACT","text":"Anterior segment dysgenesis"},{"scope":"EXACT","text":"Anterior segment mesencyhmal dysgenesis"},{"scope":"EXACT","text":"Anterior segment ocular dysgenesis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007702","name":"obsolete Pigmentary retinal deposits","obsolete":true,"parents":[],"replaced_by":["HP:0000580"],"synonyms":[]} +{"alt_ids":["HP:0007741","HP:0007743","HP:0008051"],"definition":"Any deviation from the normal pigmentation of the retina.","id":"HP:0007703","name":"Abnormal retinal pigmentation","obsolete":false,"parents":["HP:0000479"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of RPE"},{"scope":"EXACT","text":"Abnormality of retinal pigment epithelium"},{"scope":"EXACT","text":"Abnormality of retinal pigmentation"},{"scope":"RELATED","text":"Abnormality of the retinal pigment epithelium"},{"scope":"EXACT","text":"Retinal pigmentary anomaly"}]} +{"alt_ids":[],"definition":"Sudden-onset episode of abnormal, involuntary eye movements.","id":"HP:0007704","name":"Paroxysmal involuntary eye movements","obsolete":false,"parents":["HP:0012547"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal eye movements, paroxysmal"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007705","name":"Corneal degeneration","obsolete":false,"parents":["HP:0000481"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the crystalline lens of the eye as a result of a developmental defect.","id":"HP:0007707","name":"Congenital aphakia","obsolete":false,"parents":["HP:0008063","HP:6001302"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lens agenesis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007708","name":"Absent inner eyelashes","obsolete":false,"parents":["HP:0000561"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent inner eyelashes"}]} +{"alt_ids":[],"definition":"A type of genetically determined disease of the cornea with corneal lesions with a band-like shape.","id":"HP:0007709","name":"Band-shaped corneal dystrophy","obsolete":false,"parents":["HP:0001131"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007710","name":"Peripheral vitreous opacities","obsolete":false,"parents":["HP:0004327"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007712","name":"obsolete Choroidal dystrophy","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007713","name":"obsolete Juvenile zonular cataracts","obsolete":true,"parents":[],"replaced_by":["HP:0010920"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007715","name":"Weak extraocular muscles","obsolete":false,"parents":["HP:0000597"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A malignant melanoma originating within the eye. 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rows","obsolete":false,"parents":["HP:0000527"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Long eyelashes in irregular rows"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007744","name":"obsolete Iridoretinal coloboma","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007747","name":"Monocular horizontal nystagmus","obsolete":false,"parents":["HP:0000666"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007748","name":"obsolete Irido-fundal coloboma","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of the fovea centralis.","id":"HP:0007750","name":"Hypoplasia of the fovea","obsolete":false,"parents":["HP:0008060"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foveal hypoplasia"}]} +{"alt_ids":["HP:0007638","HP:0007798","HP:0007914","HP:0007919","HP:0007999"],"definition":"Macular dystrophy is a nonspecific term for retinal 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eyelashes"},{"scope":"EXACT","text":"Sparse lower eyelashes"},{"scope":"EXACT","text":"Thin lower eyelashes"}]} +{"alt_ids":[],"definition":"Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye.","id":"HP:0007777","name":"Chorioretinal scar","obsolete":false,"parents":["HP:0000532","HP:0100699"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of retinal neovascularization that affects the posterior pole of the retina.","id":"HP:0007778","name":"Posterior retinal neovascularization","obsolete":false,"parents":["HP:0030666"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neovascularization of peripheral and posterior retina"},{"scope":"EXACT","text":"Posterior retinal neovascularisation"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007779","name":"Anterior segment of eye aplasia","obsolete":false,"parents":["HP:0008062"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens.","id":"HP:0007780","name":"Cortical pulverulent cataract","obsolete":false,"parents":["HP:0010693"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cataracts, cortical pulverulent"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007782","name":"obsolete Peripheral retinal cone degeneration","obsolete":true,"parents":[],"replaced_by":["HP:0007769"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007783","name":"obsolete Butterfly retinal pigment epithelial dystrophy","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007786","name":"obsolete Lacunar retinal depigmentation","obsolete":true,"parents":[],"replaced_by":["HP:0007858"],"synonyms":[]} +{"alt_ids":["HP:0007666","HP:0007857"],"definition":"A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.","id":"HP:0007787","name":"Posterior subcapsular cataract","obsolete":false,"parents":["HP:0000523"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Posterior subcapsular cataracts"},{"scope":"EXACT","text":"Posterior subcapsular opacities of the lens"}]} +{"alt_ids":[],"definition":"A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) that occurs in small, isolated areas.","id":"HP:0007791","name":"Patchy atrophy of the retinal pigment epithelium","obsolete":false,"parents":["HP:0007722"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007792","name":"Microsaccadic pursuit","obsolete":false,"parents":["HP:0001152"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula.","id":"HP:0007793","name":"Granular macular 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May be related to calcinosis.","id":"HP:0007799","name":"Conjunctival whitish salt-like deposits","obsolete":false,"parents":["HP:0000502"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean.","id":"HP:0007800","name":"Increased axial length of the globe","obsolete":false,"parents":["HP:0001090"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Globe elongated"},{"scope":"EXACT","text":"Increased axial globe length"},{"scope":"EXACT","text":"Increased front to back length of eyeball"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007801","name":"obsolete Fishnet retinal pigmentation","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material.","id":"HP:0007802","name":"Granular corneal dystrophy","obsolete":false,"parents":["HP:0001131"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007954"],"definition":"Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray.","id":"HP:0007803","name":"Monochromacy","obsolete":false,"parents":["HP:0000551"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete achromatopsia"},{"scope":"RELATED","text":"Total colorblindness"}]} +{"alt_ids":["HP:0008495"],"definition":null,"id":"HP:0007807","name":"Optic nerve compression","obsolete":false,"parents":["HP:0000587","HP:0001293"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007808","name":"obsolete Bilateral retinal coloboma","obsolete":true,"parents":[],"replaced_by":["HP:0000480"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007809","name":"Punctate corneal dystrophy","obsolete":false,"parents":["HP:0001131"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007810","name":"obsolete Progressive bifocal chorioretinal atrophy","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0200069"],"definition":"Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity.","id":"HP:0007811","name":"Horizontal pendular nystagmus","obsolete":false,"parents":["HP:0000666","HP:0006934","HP:0012043"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining.","id":"HP:0007812","name":"Herpetiform corneal ulceration","obsolete":false,"parents":["HP:0012804"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dendritic corneal epithelial ulcer"},{"scope":"EXACT","text":"Herpetiform corneal ulcers"}]} +{"alt_ids":[],"definition":"A form of uveitis that is not associated with the formation of granulomas.","id":"HP:0007813","name":"Nongranulomatous uveitis","obsolete":false,"parents":["HP:0000554"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001124"],"definition":"Mottling (spots or blotches of different shades) of the retinal pigment epithelium, i.e., localized or generalized fundus pigment granularity associated with processes at the level of the retinal pigment epithelium.","id":"HP:0007814","name":"Retinal pigment epithelial mottling","obsolete":false,"parents":["HP:0007703"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal hypopigmentation of the retinal pigment epithelium"},{"scope":"EXACT","text":"RPE irregularity"},{"scope":"EXACT","text":"RPE mottling"},{"scope":"EXACT","text":"Retinal pigment epithelium irregularity"},{"scope":"EXACT","text":"Salt and pepper retinal pigmentation"},{"scope":"EXACT","text":"Salt and pepper retinopathy"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007815","name":"Abnormal distribution of retinal arterioles and venules","obsolete":true,"parents":[],"replaced_by":["HP:0008046"],"synonyms":[]} +{"alt_ids":[],"definition":"A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.","id":"HP:0007817","name":"Horizontal supranuclear gaze palsy","obsolete":false,"parents":["HP:0000605"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone.","id":"HP:0007818","name":"Central heterochromia","obsolete":false,"parents":["HP:0001100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ring iris heterochromia"}]} +{"alt_ids":["HP:0007848"],"definition":"Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual.","id":"HP:0007819","name":"Presenile cataracts","obsolete":false,"parents":["HP:0000518"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Presenile cataract"}]} +{"alt_ids":[],"definition":"Congenital absence or closure of the opening of the lacrimal punctum.","id":"HP:0007820","name":"Lacrimal punctal atresia","obsolete":false,"parents":["HP:0011479"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atretic lacrimal puncta"},{"scope":"EXACT","text":"Atretic lacrimal punctum"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007822","name":"Central retinal exudate","obsolete":false,"parents":["HP:0001147"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Paralysis of both the extrinsic and intrinsic ocular muscles.","id":"HP:0007824","name":"Total ophthalmoplegia","obsolete":false,"parents":["HP:0000602"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete ophthalmoplegia"},{"scope":"EXACT","text":"Global paralysis of gaze"},{"scope":"EXACT","text":"Total internal and external ophthalmoplegia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007825","name":"obsolete Cataracts develop in second or third decade","obsolete":true,"parents":[],"replaced_by":["HP:0000518"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007827","name":"Nodular corneal dystrophy","obsolete":false,"parents":["HP:0011494"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007829","name":"obsolete Diffuse retinal cone degeneration","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inability to see well at night or in poor light with onset in adulthood.","id":"HP:0007830","name":"Adult-onset night blindness","obsolete":false,"parents":["HP:0000662"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Adult-onset night blindness"}]} +{"alt_ids":["HP:0007682"],"definition":"Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.","id":"HP:0007831","name":"Nonprogressive restrictive external ophthalmoplegia","obsolete":false,"parents":["HP:0000544"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007832","name":"Pigmentation of the sclera","obsolete":false,"parents":["HP:0000591"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Pigmentation of the outer white part of the eyeball"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007833","name":"Anterior chamber synechiae","obsolete":false,"parents":["HP:0000593"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007828"],"definition":"A kind of cataract that progresses with age.","id":"HP:0007834","name":"Progressive cataract","obsolete":false,"parents":["HP:0000518"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cataract, progressive"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007835","name":"S-shaped palpebral fissures","obsolete":false,"parents":["HP:0200005"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"S-shaped eyes"},{"scope":"EXACT","text":"S-shaped opening between the eyelids"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007836","name":"Mosaic corneal dystrophy","obsolete":false,"parents":["HP:0001131"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A progressive form of ptosis.","id":"HP:0007838","name":"Progressive ptosis","obsolete":false,"parents":["HP:0000508"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Progressive drooping of upper eyelid"}]} +{"alt_ids":[],"definition":"Increased length of the upper eyelashes.","id":"HP:0007840","name":"Long upper eyelashes","obsolete":false,"parents":["HP:0000527","HP:0040051"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ciliary trichomegaly of upper eyelashes"},{"scope":"EXACT","text":"Increased length of upper eyelashes"},{"scope":"EXACT","text":"Long upper eyelashes"}]} +{"alt_ids":[],"definition":"Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity.","id":"HP:0007841","name":"Amyloid deposition in the vitreous humor","obsolete":false,"parents":["HP:0004327","HP:0020015"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Amyloid deposition in the vitreous humour"},{"scope":"EXACT","text":"Vitreous amyloid deposits"}]} +{"alt_ids":[],"definition":"Narrowing of the retinal blood vessels, both arterioles and venules.","id":"HP:0007843","name":"Attenuation of retinal blood vessels","obsolete":false,"parents":["HP:0008046"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrowing of blood vessels in back of eye"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007850","name":"obsolete Retinal vascular proliferation","obsolete":true,"parents":[],"replaced_by":["HP:0030666"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007851","name":"obsolete Temporal displacement of maculae","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007852","name":"obsolete Pericentral pigmentary retinopathy","obsolete":true,"parents":[],"replaced_by":["HP:0000580"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007854","name":"Glaucomatous visual field defect","obsolete":false,"parents":["HP:0001123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008004"],"definition":"Punctate opacification (reduced transparency) of the corneal stroma.","id":"HP:0007856","name":"Punctate opacification of the cornea","obsolete":false,"parents":["HP:0007759"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Punctate corneal opacities"}]} +{"alt_ids":["HP:0007786"],"definition":"Punched out lesions in the pigmented layer of the retina.","id":"HP:0007858","name":"Chorioretinal lacunae","obsolete":false,"parents":["HP:0000532"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Lacunar retinal depigmentation"}]} +{"alt_ids":[],"definition":"Horizontal nystagmus dating from or present at birth.","id":"HP:0007859","name":"Congenital horizontal nystagmus","obsolete":false,"parents":["HP:0000666","HP:0006934"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nystagmus, congenital horizontal"}]} +{"alt_ids":[],"definition":"Deposition of calcium salts in the retina.","id":"HP:0007862","name":"Retinal calcification","obsolete":false,"parents":["HP:0010766","HP:0030506"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007866","name":"Retinal infarction","obsolete":false,"parents":["HP:0000479"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position.","id":"HP:0007867","name":"Restrictive partial external ophthalmoplegia","obsolete":false,"parents":["HP:0007936"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007868","name":"obsolete Age-related macular degeneration","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007869","name":"obsolete Peripheral retinopathy","obsolete":true,"parents":[],"replaced_by":["HP:0000580"],"synonyms":[]} +{"alt_ids":[],"definition":"Benign choroidal tumour, seen in the fundus as a reddish or orange choroidal lesion and usually associated with cystoid edema, and less commonly with Subretinal fluid.","id":"HP:0007872","name":"Choroidal hemangioma","obsolete":false,"parents":["HP:0000610","HP:0001028"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007940"],"definition":null,"id":"HP:0007873","name":"Abnormally prominent line of Schwalbe","obsolete":false,"parents":["HP:0008048"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prominent Schwalbe lines"}]} +{"alt_ids":[],"definition":"A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point.","id":"HP:0007874","name":"Almond-shaped palpebral fissure","obsolete":false,"parents":["HP:0200005"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Almond shaped eyes"},{"scope":"EXACT","text":"Almond-shaped opening between the eyelids"}]} +{"alt_ids":["HP:0007706"],"definition":"Blindness with onset at birth.","id":"HP:0007875","name":"Congenital blindness","obsolete":false,"parents":["HP:0000618"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blindness present at birth"},{"scope":"EXACT","text":"Congenital amaurosis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007876","name":"obsolete Juvenile cortical cataract","obsolete":true,"parents":[],"replaced_by":["HP:0100019"],"synonyms":[]} +{"alt_ids":[],"definition":"Allergic Conjunctivitis is an allergic inflammation of the conjunctiva.","id":"HP:0007879","name":"Allergic conjunctivitis","obsolete":false,"parents":["HP:0000509","HP:0012393"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007880","name":"Marginal corneal dystrophy","obsolete":false,"parents":["HP:0001131"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007881","name":"Central corneal dystrophy","obsolete":false,"parents":["HP:0011493"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally slow velocity of horizontal saccadic eye movements.","id":"HP:0007885","name":"Slowed horizontal saccades","obsolete":false,"parents":["HP:0000514"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Congenital absence of the extraocular muscles.","id":"HP:0007886","name":"Absent extraocular muscles","obsolete":false,"parents":["HP:0008049"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Absent ocular muscles"},{"scope":"EXACT","text":"Missing eye muscles"}]} +{"alt_ids":[],"definition":"A type of posterior subcapsular cataract characterized by an iridescent color.","id":"HP:0007889","name":"Iridescent posterior subcapsular cataract","obsolete":false,"parents":["HP:0007787"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cataracts, posterior, subcapsular, iridescent"}]} +{"alt_ids":[],"definition":"Underdevelopment of the lacrimal puncta.","id":"HP:0007892","name":"Hypoplasia of the lacrimal punctum","obsolete":false,"parents":["HP:0011479"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplasia of the lacrimal puncta"},{"scope":"EXACT","text":"Hypoplastic lacrimal puncta"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007893","name":"obsolete Progressive retinal degeneration","obsolete":true,"parents":[],"replaced_by":["HP:0000546"],"synonyms":[]} +{"alt_ids":["HP:0001111","HP:0001487","HP:0007680","HP:0007746","HP:0007752"],"definition":"Generalized or focal reduced pigmentation of the fundus, evaluated in the context of skin and hair color. Fundoscopy may reveal a low level pigment.","id":"HP:0007894","name":"Fundus hypopigmentation","obsolete":false,"parents":["HP:0031605"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased fundus pigmentation"},{"scope":"EXACT","text":"Depigmented fundus"},{"scope":"EXACT","text":"Hypopigmentation of the fundus"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007898","name":"obsolete Exudative retinopathy","obsolete":true,"parents":[],"replaced_by":["HP:0012231"],"synonyms":[]} +{"alt_ids":["HP:0007849"],"definition":"Retinal nonattachment is a developmental (congenital) condition in which persistent fetal blood vessels appear to proliferate more dramatically during infancy, causing complete perinatal detachment of the retina. This may occur during or shortly after neurogenesis, since the pathology is apparent at birth, and it may have a tractional basis, involving fibrovascular strands between the retina, posterior lens and hyaloid vessels.","id":"HP:0007899","name":"Retinal nonattachment","obsolete":false,"parents":["HP:0000541"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Congenital retinal detachment"},{"scope":"EXACT","text":"Congenital retinal non-attachment"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007900","name":"Hypoplastic lacrimal duct","obsolete":false,"parents":["HP:0011481"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Underdeveloped tear duct"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007901","name":"obsolete Retinal malformation","obsolete":true,"parents":[],"replaced_by":["HP:0000479"],"synonyms":[]} +{"alt_ids":[],"definition":"Bleeding within the vitreous compartment of the eye.","id":"HP:0007902","name":"Vitreous 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IOP"},{"scope":"EXACT","text":"Increased intraocular pressure"},{"scope":"EXACT","text":"Raised IOP"},{"scope":"EXACT","text":"Raised intraocular pressure"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007910","name":"obsolete Nonprogressive congenital retinal dystrophy","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007719","HP:0007955"],"definition":null,"id":"HP:0007911","name":"Congenital bilateral ptosis","obsolete":false,"parents":["HP:0001488","HP:0007970"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital drooping of both upper eyelids"},{"scope":"EXACT","text":"Ptosis, bilateral congenital"},{"scope":"EXACT","text":"Ptosis, congenital bilateral"}]} +{"alt_ids":[],"definition":"A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation.","id":"HP:0007913","name":"Reticular retinal dystrophy","obsolete":false,"parents":["HP:0007963"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma.","id":"HP:0007915","name":"Polymorphous posterior corneal dystrophy","obsolete":false,"parents":["HP:0011489","HP:0011491"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007916","name":"obsolete Small anterior lens surface opacities","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes, in the absence of a full-thickness retinal defect.","id":"HP:0007917","name":"Tractional retinal detachment","obsolete":false,"parents":["HP:0000541"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007920","name":"obsolete Congenital chorioretinal dystrophy","obsolete":true,"parents":[],"replaced_by":["HP:0001135"],"synonyms":[]} +{"alt_ids":["HP:0007654"],"definition":"Myelinated retinal nerve fiber (MRNF) layer is a rare and mostly benign congenital anomaly in which the retinal nerve fibers anterior to the lamina cribrosa have a myelin sheath.","id":"HP:0007922","name":"Hypermyelinated retinal nerve fibers","obsolete":false,"parents":["HP:0012447","HP:0020119","HP:0032028"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypermyelinated retinal nerve fibres"},{"scope":"EXACT","text":"MRNF"},{"scope":"EXACT","text":"Retinal striation"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007923","name":"obsolete Foveal hyperplasia","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007652"],"definition":null,"id":"HP:0007924","name":"Slow decrease in visual acuity","obsolete":false,"parents":["HP:0000529"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Decreased visual acuity, slowly progressive"},{"scope":"EXACT","text":"Slow decrease in sharpness of vision"},{"scope":"EXACT","text":"Subacute deterioration of visual acuity"}]} +{"alt_ids":[],"definition":"A congenital defect resulting in absence of the lacrimal duct.","id":"HP:0007925","name":"Lacrimal duct aplasia","obsolete":false,"parents":["HP:0011481"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent tear duct"}]} +{"alt_ids":[],"definition":"Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room.","id":"HP:0007928","name":"Abnormal flash visual evoked potentials","obsolete":false,"parents":["HP:0000649"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Separation of the inner layers of the retina (neural retina) from the pigment epithelium occurring near the outer limit (periphery) of the retina.","id":"HP:0007929","name":"Peripheral retinal detachment","obsolete":false,"parents":["HP:0000541"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007930","name":"obsolete Prominent epicanthal folds","obsolete":true,"parents":[],"replaced_by":["HP:0000286"],"synonyms":[]} +{"alt_ids":[],"definition":"Congenital abnormal dilation of the pupil on both sides.","id":"HP:0007932","name":"Bilateral congenital mydriasis","obsolete":false,"parents":["HP:0011499"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Regional increase in the width (height) of the lateral eyebrow.","id":"HP:0007933","name":"Broad lateral eyebrow","obsolete":false,"parents":["HP:0011229"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lateral eyebrow flare"},{"scope":"EXACT","text":"Wide lateral eyebrow"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007935","name":"Juvenile posterior subcapsular lenticular opacities","obsolete":false,"parents":["HP:0007787"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007846","HP:0007959","HP:0008025"],"definition":"Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.","id":"HP:0007936","name":"Restrictive external ophthalmoplegia","obsolete":false,"parents":["HP:0000544"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Restrictive external ophthalmoplegia, bilateral"},{"scope":"EXACT","text":"Restrictive ophthalmoplegia"}]} +{"alt_ids":[],"definition":"A pattern of peripheral netlike retinal pigmentation that forms a polygonal arrangement of hyperpigmented lines forming geometric patterns in the fundus.","id":"HP:0007937","name":"Reticular pigmentary degeneration","obsolete":false,"parents":["HP:0007769","HP:0011512"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fishnet retinal pigmentation"},{"scope":"EXACT","text":"Honeycomb retinal degeneration"},{"scope":"EXACT","text":"Reticular degeneration of the RPE"}]} +{"alt_ids":[],"definition":"A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors.","id":"HP:0007939","name":"Blue cone monochromacy","obsolete":false,"parents":["HP:0011517"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blue cone monochromatism"},{"scope":"EXACT","text":"Incomplete achromatopsia"},{"scope":"EXACT","text":"S-cone monochromacy"}]} +{"alt_ids":[],"definition":"Limited mobility of the eye within its socket.","id":"HP:0007941","name":"Limited extraocular movements","obsolete":false,"parents":["HP:0000496"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Limited extraocular movement"}]} +{"alt_ids":[],"definition":"Paralysis of the iris and ciliary apparatus.","id":"HP:0007942","name":"Internal ophthalmoplegia","obsolete":false,"parents":["HP:0000602"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of stapes ankylosis with congenital onset.","id":"HP:0007943","name":"Congenital stapes ankylosis","obsolete":false,"parents":["HP:0000381"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007944","name":"Intermittent microsaccadic pursuits","obsolete":false,"parents":["HP:0001152"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007945","name":"obsolete Choroidal degeneration","obsolete":true,"parents":[],"replaced_by":["HP:0000533"],"synonyms":[]} +{"alt_ids":[],"definition":"A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only.","id":"HP:0007946","name":"Unilateral narrow palpebral fissure","obsolete":false,"parents":["HP:0000581"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrow palpebral fissure, unilateral"},{"scope":"RELATED","text":"Unequal size of opening between the eyelids"}]} +{"alt_ids":[],"definition":"A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery.","id":"HP:0007947","name":"Pericentral retinitis pigmentosa","obsolete":false,"parents":["HP:0000510"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of posterior cortical cataract characterized by dense lenticular opacities.","id":"HP:0007948","name":"Dense posterior cortical cataract","obsolete":false,"parents":["HP:0010924"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007949","name":"obsolete Progressive macular scarring","obsolete":true,"parents":[],"replaced_by":["HP:0200056"],"synonyms":[]} +{"alt_ids":[],"definition":"Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head).","id":"HP:0007950","name":"Peripapillary chorioretinal atrophy","obsolete":false,"parents":["HP:0000533"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007956","name":"obsolete Bilateral choroid coloboma","obsolete":true,"parents":[],"replaced_by":["HP:0000567"],"synonyms":[]} +{"alt_ids":["HP:0007844","HP:0007883","HP:0008502"],"definition":"A reduction of corneal clarity.","id":"HP:0007957","name":"Corneal opacity","obsolete":false,"parents":["HP:0000481"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Corneal clouding"},{"scope":"EXACT","text":"Corneal opacities"},{"scope":"EXACT","text":"Reduction of corneal clarity"},{"scope":"EXACT","text":"Scarring or clouding of the cornea of the eye"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007958","name":"Optic atrophy from cranial nerve compression","obsolete":false,"parents":["HP:0000648","HP:0001293"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007961","name":"obsolete Rarefaction of retinal pigmentation","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007962","name":"Speckled corneal dystrophy","obsolete":false,"parents":["HP:0001131"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation).","id":"HP:0007963","name":"Pattern dystrophy of the retina","obsolete":false,"parents":["HP:0007754"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007964","name":"Degenerative vitreoretinopathy","obsolete":false,"parents":["HP:0007773"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007965","name":"Undetectable visual evoked potentials","obsolete":false,"parents":["HP:0000649"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of visual evoked potentials"},{"scope":"EXACT","text":"Non-detectable VEP"},{"scope":"EXACT","text":"Undetectable VEP"}]} +{"alt_ids":[],"definition":"Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.","id":"HP:0007968","name":"Remnants of the hyaloid vascular system","obsolete":false,"parents":["HP:0004327"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital retinal septum"},{"scope":"EXACT","text":"Persistent fetal vasculature"},{"scope":"EXACT","text":"Persistent foetal vasculature"},{"scope":"EXACT","text":"Persistent hyperplasia of primary vitreous"},{"scope":"EXACT","text":"Persistent hyperplastic primary vitreous"},{"scope":"EXACT","text":"Persistent hypertrophic primary vitreous"},{"scope":"EXACT","text":"Persistent posterior fetal fibrovascular sheath of the lens"},{"scope":"EXACT","text":"Persistent posterior foetal fibrovascular sheath of the lens"},{"scope":"EXACT","text":"Persistent tunica vasculosa lentis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007970","name":"Congenital ptosis","obsolete":false,"parents":["HP:0000508"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital drooping upper eyelid"}]} +{"alt_ids":[],"definition":"A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens.","id":"HP:0007971","name":"Lamellar cataract","obsolete":false,"parents":["HP:0010920"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007770","HP:0008022"],"definition":"Abnormal growth and differentiation, structure and appearance of the retina present from birth.","id":"HP:0007973","name":"Retinal dysplasia","obsolete":false,"parents":["HP:0000479"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dysplasia/hypoplasia of the retina"},{"scope":"EXACT","text":"Retinal dysgenesis"},{"scope":"NARROW","text":"Retinal hypoplasia"}]} +{"alt_ids":[],"definition":"Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.","id":"HP:0007975","name":"Hypometric horizontal saccades","obsolete":false,"parents":["HP:0000571"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary.","id":"HP:0007976","name":"Cerulean cataract","obsolete":false,"parents":["HP:0007648"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cataracts, congenital, cerulean"}]} +{"alt_ids":["HP:0007639"],"definition":"Horizontal nystagmus made apparent by looking to the right or to the left.","id":"HP:0007979","name":"Gaze-evoked horizontal nystagmus","obsolete":false,"parents":["HP:0000640","HP:0000666"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Nystagmus, horizontal gaze-evoked"},{"scope":"EXACT","text":"Nystagmus, horizontal, gaze-evoked"}]} +{"alt_ids":[],"definition":"Discrete areas of pallor in which the pigment epithelium, choriocapillaris and choroidal pigment are absent.","id":"HP:0007980","name":"Absent retinal pigment epithelium","obsolete":false,"parents":["HP:0007894"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007981","name":"obsolete Concentric narrowing of visual field","obsolete":true,"parents":[],"replaced_by":["HP:0001133"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007982","name":"obsolete Central tapetoretinal dystrophy","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave.","id":"HP:0007984","name":"ERG: Reduced dark-adapted b-wave amplitude","obsolete":false,"parents":["HP:0030478"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Electronegative ERG"},{"scope":"EXACT","text":"Electroretinogram: reduced b-wave amplitude"},{"scope":"EXACT","text":"Reduced ERG amplitude of b-wave"},{"scope":"EXACT","text":"Reduced amplitude of dark-adapted bright flash electroretinogram b-wave"},{"scope":"EXACT","text":"Reduced electroretinogram rod b-wave"}]} +{"alt_ids":[],"definition":"Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina. This can affect the inner or mid-retinal structures.","id":"HP:0007985","name":"Retinal arteriolar occlusion","obsolete":false,"parents":["HP:0000630"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blocked retinal arteriole"},{"scope":"EXACT","text":"Blocked retinal artery"}]} +{"alt_ids":[],"definition":null,"id":"HP:0007986","name":"Increased retinal vascularity","obsolete":false,"parents":["HP:0008046"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0007987","name":"Progressive visual field defects","obsolete":false,"parents":["HP:0001123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased amount of pigmentation in the macula.","id":"HP:0007988","name":"Macular hypopigmentation","obsolete":false,"parents":["HP:0008002"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Macular depigmentation"}]} +{"alt_ids":[],"definition":"Retinal exudate within the retinal tissue itself.","id":"HP:0007989","name":"Intraretinal exudate","obsolete":false,"parents":["HP:0001147"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007991","HP:0008027"],"definition":"Underdevelopment of the stroma of iris.","id":"HP:0007990","name":"Hypoplastic iris stroma","obsolete":false,"parents":["HP:0007676"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic iris stoma"},{"scope":"EXACT","text":"Iris stromal hypoplasia"},{"scope":"EXACT","text":"Underdeveloped iris stroma"}]} +{"alt_ids":[],"definition":"A pattern of white lines and dots in the far periphery of the retina.","id":"HP:0007992","name":"Lattice retinal degeneration","obsolete":false,"parents":["HP:0007769"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies.","id":"HP:0007993","name":"Malformed lacrimal duct","obsolete":false,"parents":["HP:0011481"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Malformed tear ducts"}]} +{"alt_ids":[],"definition":"Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.","id":"HP:0007994","name":"Peripheral visual field loss","obsolete":false,"parents":["HP:0001133"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Kalnienk vision"},{"scope":"EXACT","text":"Loss of peripheral vision"},{"scope":"RELATED","text":"Tunnel vision"}]} +{"alt_ids":[],"definition":"An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.","id":"HP:0008000","name":"Decreased corneal reflex","obsolete":false,"parents":["HP:0034251"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased blink reflex"},{"scope":"EXACT","text":"Reduced corneal reflex"}]} +{"alt_ids":[],"definition":"Increased amount of pigmentation in the fovea.","id":"HP:0008001","name":"Foveal hyperpigmentation","obsolete":false,"parents":["HP:0030493"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal, uniform distribution or appearance of pigment within the macular region of the retina.","id":"HP:0008002","name":"Abnormal macular pigmentation","obsolete":false,"parents":["HP:0001103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of macular pigmentation"},{"scope":"RELATED","text":"Macular pigmentary changes"}]} +{"alt_ids":["HP:0007897"],"definition":null,"id":"HP:0008003","name":"Jerky ocular pursuit movements","obsolete":false,"parents":["HP:0000617"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Jerky smooth pursuit"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008005","name":"obsolete Congenital corneal dystrophy","obsolete":true,"parents":[],"replaced_by":["HP:0001131"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008007","name":"Primary congenital glaucoma","obsolete":false,"parents":["HP:0001087"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008008","name":"obsolete Progressive central visual loss","obsolete":true,"parents":[],"replaced_by":["HP:0007663"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008009","name":"Three rows of eyelashes","obsolete":false,"parents":["HP:0008496"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Three rows of eyelashes"},{"scope":"EXACT","text":"Triple row of eyelashes"}]} +{"alt_ids":[],"definition":"Reduced transparency of the peripheral region of the cornea.","id":"HP:0008011","name":"Peripheral opacification of the cornea","obsolete":false,"parents":["HP:0007759"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Peripheral corneal opacity"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008012","name":"obsolete Congenital myopia","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008014","name":"obsolete Central fundal arteriolar microaneurysms","obsolete":true,"parents":[],"replaced_by":["HP:0032416"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008017","name":"obsolete Depigmented lesions of the retinal pigment epithelium","obsolete":true,"parents":[],"replaced_by":["HP:0007722"],"synonyms":[]} +{"alt_ids":[],"definition":"Partial dislocation of the lens in a superior direction.","id":"HP:0008019","name":"Superior lens subluxation","obsolete":false,"parents":["HP:0001132"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Superior subluxated lens"}]} +{"alt_ids":["HP:0007789"],"definition":"Inherited progressive cone degeneration.","id":"HP:0008020","name":"Cone dystrophy","obsolete":false,"parents":["HP:0000556"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Progressive cone degeneration"},{"scope":"EXACT","text":"Progressive cone dystrophy"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008024","name":"obsolete Congenital nuclear cataract","obsolete":true,"parents":[],"replaced_by":["HP:0100018"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008026","name":"Horizontal opticokinetic nystagmus","obsolete":false,"parents":["HP:0000666"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007673"],"definition":"A form of macular degeneration characterized by the presence of multiple cystoid spaces in the macula.","id":"HP:0008028","name":"Cystoid macular degeneration","obsolete":false,"parents":["HP:0000608"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cystic macular degeneration"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008030","name":"Retinal arteritis","obsolete":false,"parents":["HP:0000630","HP:0012089","HP:0025188"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of sutural cataract in which the opacity follows the posterior Y suture.","id":"HP:0008031","name":"Posterior Y-sutural cataract","obsolete":false,"parents":["HP:0010695"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Posterior Y-sutural cataracts"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008033","name":"obsolete Congenital exotropia","obsolete":true,"parents":[],"replaced_by":["HP:0000577"],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal pigmentation of the iris.","id":"HP:0008034","name":"Abnormal iris pigmentation","obsolete":false,"parents":["HP:0000525"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008035","name":"obsolete Retinitis pigmentosa inversa","obsolete":true,"parents":[],"replaced_by":["HP:0000546"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008036","name":"obsolete Rod-cone dystrophy","obsolete":true,"parents":[],"replaced_by":["HP:0000510"],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the anterior chamber of the eye owing to a developmental defect.","id":"HP:0008037","name":"Absent anterior chamber of the eye","obsolete":false,"parents":["HP:0000593"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the lacrimal gland.","id":"HP:0008038","name":"Aplastic/hypoplastic lacrimal glands","obsolete":false,"parents":["HP:0011482"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/underdeveloped lacrimal glands"},{"scope":"EXACT","text":"Absent/underdeveloped tear glands"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008039","name":"Subepithelial corneal opacities","obsolete":false,"parents":["HP:0007727"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008041","name":"Late onset congenital glaucoma","obsolete":false,"parents":["HP:0001087"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007952","HP:0008510"],"definition":"Focal decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina.","id":"HP:0008043","name":"Focal retinal arteriolar constriction","obsolete":false,"parents":["HP:0000630"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Constricted retinal arterioles"},{"scope":"EXACT","text":"Narrow retinal arterioles"},{"scope":"EXACT","text":"Retinal arteriolar constriction"},{"scope":"EXACT","text":"Retinal arteriolar narrowing"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008045","name":"Enlarged flash visual evoked potentials","obsolete":false,"parents":["HP:0030462"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High flash visual evoked potentials"}]} +{"alt_ids":["HP:0007815"],"definition":"A structural abnormality of retinal vasculature.","id":"HP:0008046","name":"Abnormal retinal vascular morphology","obsolete":false,"parents":["HP:0000479","HP:0008047"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of retina blood vessels"},{"scope":"EXACT","text":"Abnormality of the retinal vasculature"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008047","name":"Abnormality of the vasculature of the eye","obsolete":false,"parents":["HP:0002597","HP:0012372"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of eye blood vessels"}]} +{"alt_ids":[],"definition":"An abnormality of the line of Schwalbe.","id":"HP:0008048","name":"Abnormal line of Schwalbe morphology","obsolete":false,"parents":["HP:0000481"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the line of Schwalbe"}]} +{"alt_ids":[],"definition":"An abnormality of an extraocular muscle.","id":"HP:0008049","name":"Abnormality of the extraocular muscles","obsolete":false,"parents":["HP:0030669","HP:0040286"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the space between the medial and lateral canthi of the two open eyelids.","id":"HP:0008050","name":"Abnormality of the palpebral fissures","obsolete":false,"parents":["HP:0000492"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the opening between the eyelids"},{"scope":"EXACT","text":"Abnormality of the palpebral fissures"},{"scope":"NARROW","text":"Deformity of the palpebral fissures"},{"scope":"NARROW","text":"Malformation of the palpebral fissures"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008051","name":"obsolete Abnormality of the retinal pigment epithelium","obsolete":true,"parents":[],"replaced_by":["HP:0007703"],"synonyms":[]} +{"alt_ids":[],"definition":"A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.","id":"HP:0008052","name":"Retinal fold","obsolete":false,"parents":["HP:0000479"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Retinal folds"}]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the iris.","id":"HP:0008053","name":"Aplasia/Hypoplasia of the iris","obsolete":false,"parents":["HP:0000525","HP:0008055","HP:0008062"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small iris"},{"scope":"EXACT","text":"Absent/underdeveloped iris"}]} +{"alt_ids":[],"definition":"Any abnormality of the blood vessels of the conjunctiva.","id":"HP:0008054","name":"Abnormal morphology of the conjunctival vasculature","obsolete":false,"parents":["HP:0000502","HP:0008047"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal morphology of the conjunctiva vasculature"},{"scope":"EXACT","text":"Abnormal vasculature of the conjunctiva morphology"},{"scope":"EXACT","text":"Abnormality of the vasculature of the conjunctiva"}]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid.","id":"HP:0008055","name":"Aplasia/Hypoplasia affecting the uvea","obsolete":false,"parents":["HP:0000553","HP:0008056"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/underdeveloped uvea"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008056","name":"Aplasia/Hypoplasia affecting the eye","obsolete":false,"parents":["HP:0012372"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small eye"},{"scope":"EXACT","text":"Absent/underdeveloped eye"}]} +{"alt_ids":[],"definition":"A developmental defect characterized by lack of development or underdevelopment of the fundus/fovea.","id":"HP:0008057","name":"Aplasia/Hypoplasia affecting the fundus","obsolete":false,"parents":["HP:0001098","HP:0008056"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small fundus"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008058","name":"Aplasia/Hypoplasia of the optic nerve","obsolete":false,"parents":["HP:0000587","HP:0008057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small optic nerve"},{"scope":"EXACT","text":"Absent/underdeveloped optic nerve"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008059","name":"Aplasia/Hypoplasia of the macula","obsolete":false,"parents":["HP:0001103","HP:0008061"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/underdeveloped macula"}]} +{"alt_ids":[],"definition":"Congenital absence or underdevelopment of the fovea.","id":"HP:0008060","name":"Aplasia/Hypoplasia of the fovea","obsolete":false,"parents":["HP:0000493"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/underdeveloped fovea"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008061","name":"Aplasia/Hypoplasia of the 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+{"alt_ids":[],"definition":"Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum.","id":"HP:0008072","name":"Maternal virilization in pregnancy","obsolete":false,"parents":["HP:0002686"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally low concentration of serum conjugated estriol as compared to normal values for gestational-age.","id":"HP:0008073","name":"Low maternal circulating estriol concentration","obsolete":false,"parents":["HP:0011436"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low maternal serum estriol"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008074","name":"Metatarsal periosteal thickening","obsolete":false,"parents":["HP:0001832","HP:0030313"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008075","name":"obsolete Progressive pes 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+{"alt_ids":[],"definition":"Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially.","id":"HP:0008080","name":"Hallux varus","obsolete":false,"parents":["HP:0010051"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hitchhiker hallux"},{"scope":"EXACT","text":"Hyperabducted big toe"},{"scope":"EXACT","text":"Medially deviated halluces"}]} +{"alt_ids":[],"definition":"An outward (valgus) deviation of the calcaneus relative to the longitudinal axis of the lower leg at the talocalcaneal (subtalar) joint, such that the heel is everted.","id":"HP:0008081","name":"Pes valgus","obsolete":false,"parents":["HP:5210430"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Everted heel"},{"scope":"NARROW","text":"Heel valgus"},{"scope":"NARROW","text":"Valgus deformity of the hindfoot"},{"scope":"EXACT","text":"Valgus foot deformity"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008082","name":"Medial deviation of the foot","obsolete":false,"parents":["HP:0001760"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008083","name":"2nd-5th toe middle phalangeal hypoplasia","obsolete":false,"parents":["HP:0003795"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Underdeveloped 2nd-5th middle toe bones"}]} +{"alt_ids":[],"definition":"The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible.","id":"HP:0008087","name":"Nonossified fifth metatarsal","obsolete":false,"parents":["HP:0008371"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the fifth metatarsal bone.","id":"HP:0008089","name":"Abnormality of the fifth metatarsal bone","obsolete":false,"parents":["HP:0001832"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the 5th long bone of foot"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008090","name":"Ankylosis of feet small 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between the first and second toe.","id":"HP:0008107","name":"Plantar crease between first and second toes","obsolete":false,"parents":["HP:0001869"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008137"],"definition":"Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.","id":"HP:0008108","name":"Advanced tarsal ossification","obsolete":false,"parents":["HP:0008369"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Accelerated ankle bone maturation"},{"scope":"EXACT","text":"Precociously ossified tarsal bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008110","name":"Equinovarus deformity","obsolete":false,"parents":["HP:5210430"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008111","name":"Broad distal hallux","obsolete":false,"parents":["HP:0010055"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad distal big toe"}]} +{"alt_ids":[],"definition":"A type of contracture in which the plantar flexion muscles are contracted.","id":"HP:0008112","name":"Plantar flexion contracture","obsolete":false,"parents":["HP:0034677"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Plantar flexion contractures"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008113","name":"Multiple plantar creases","obsolete":false,"parents":["HP:0100872"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones.","id":"HP:0008114","name":"Metatarsal diaphyseal endosteal sclerosis","obsolete":false,"parents":["HP:0000940","HP:0001832","HP:0100925"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe).","id":"HP:0008115","name":"Clinodactyly of the 3rd 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congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus.","id":"HP:0008124","name":"Talipes calcaneovarus","obsolete":false,"parents":["HP:0001883"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008125","name":"Second metatarsal posteriorly placed","obsolete":false,"parents":["HP:0001832"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008104","HP:0008130","HP:0008146"],"definition":"A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification.","id":"HP:0008127","name":"Bipartite calcaneus","obsolete":false,"parents":["HP:0008364"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delayed coalescence of bipartite calcanei"},{"scope":"EXACT","text":"Delayed coalescence of calcaneal ossification centers"},{"scope":"EXACT","text":"Delayed coalescence of calcaneal ossification centres"},{"scope":"EXACT","text":"Delayed fusion of bipartite calcanei"},{"scope":"EXACT","text":"Double calcaneal ossification center"},{"scope":"EXACT","text":"Double calcaneal ossification centre"},{"scope":"EXACT","text":"Extra calcaneal ossification center"},{"scope":"EXACT","text":"Extra calcaneal ossification centre"}]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones.","id":"HP:0008131","name":"Tarsal stippling","obsolete":false,"parents":["HP:0008369","HP:0010766","HP:0031051"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Punctate calcifications of tarsals"},{"scope":"EXACT","text":"Punctate tarsal calcification"}]} +{"alt_ids":[],"definition":"Hindfoot valgus (posterior part of the foot turns outward) in combination with forefoot abduction (front part of the foot (the forefoot) is angled outwards away from the midline of the body, relative to the hindfoot) and lowering of the midfoot.","id":"HP:0008132","name":"Medial rotation of the medial malleolus","obsolete":false,"parents":["HP:0001760"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008133","name":"Distal tapering of metatarsals","obsolete":false,"parents":["HP:0001832"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008140"],"definition":"Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.","id":"HP:0008134","name":"Irregular tarsal ossification","obsolete":false,"parents":["HP:0008369"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Irregular ankle bone maturation"},{"scope":"EXACT","text":"Irregular tarsal centers"},{"scope":"EXACT","text":"Irregular tarsal centres"}]} +{"alt_ids":[],"definition":"Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees.","id":"HP:0008138","name":"Equinus calcaneus","obsolete":false,"parents":["HP:0008364","HP:5210430"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Equinus deformity of the calcaneus"},{"scope":"EXACT","text":"Hindfoot equinus"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008141","name":"Dislocation of toes","obsolete":false,"parents":["HP:0001780","HP:0030311"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dislocation of toes"}]} +{"alt_ids":[],"definition":"Delayed maturation and calcification of the calcaneus.","id":"HP:0008142","name":"Delayed calcaneal ossification","obsolete":false,"parents":["HP:0008103","HP:0008364"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Delayed heel bone maturation"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008144","name":"Flattening of the talar dome","obsolete":false,"parents":["HP:0001850"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine.","id":"HP:0008148","name":"Impaired epinephrine-induced platelet aggregation","obsolete":false,"parents":["HP:0003540"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections.","id":"HP:0008150","name":"Elevated serum transaminases during infections","obsolete":false,"parents":["HP:0002910"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0012201"],"definition":"Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.","id":"HP:0008151","name":"Prolonged prothrombin time","obsolete":false,"parents":["HP:0032199"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased INR"},{"scope":"EXACT","text":"Increased international normalised ratio"},{"scope":"EXACT","text":"Increased international normalized ratio"},{"scope":"EXACT","text":"Low factor II activity"},{"scope":"EXACT","text":"Prolonged PT"},{"scope":"EXACT","text":"Reduced factor II activity"},{"scope":"EXACT","text":"Reduced prothrombin activity"}]} +{"alt_ids":[],"definition":"Episodes of muscle weakness associated with reduced levels of potassium in the blood.","id":"HP:0008153","name":"Periodic hypokalemic paresis","obsolete":false,"parents":["HP:0003768"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypokalemic periodic paresis"}]} +{"alt_ids":["HP:0003567"],"definition":"Excessive amounts of mucopolysaccharide in the urine.","id":"HP:0008155","name":"Mucopolysacchariduria","obsolete":false,"parents":["HP:0003541"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein.","id":"HP:0008158","name":"Hyperapobetalipoproteinemia","obsolete":false,"parents":["HP:0003119"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of 2-hydroxydicarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0008160","name":"3-hydroxydicarboxylic aciduria","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Alkaline phosphatase levels measured within leukocytes is below detectable levels.","id":"HP:0008161","name":"Absent leukocyte alkaline phosphatase","obsolete":false,"parents":["HP:0004852"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent leukocyte ALP"}]} +{"alt_ids":[],"definition":"An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy.","id":"HP:0008162","name":"Asymptomatic hyperammonemia","obsolete":false,"parents":["HP:0001987"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperammonemia, asymptomatic"}]} +{"alt_ids":["HP:0000874","HP:0003291","HP:0004317","HP:0008220"],"definition":"Abnormally reduced concentration of cortisol in the blood.","id":"HP:0008163","name":"Decreased circulating cortisol level","obsolete":false,"parents":["HP:0011731"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased cortisol production"},{"scope":"EXACT","text":"Glucocorticoid insufficiency"},{"scope":"EXACT","text":"Hypocortisolemia"},{"scope":"RELATED","text":"Hypocortisolism"},{"scope":"EXACT","text":"Low blood cortisol level"},{"scope":"EXACT","text":"Low to undetectable plasma cortisol"},{"scope":"EXACT","text":"Plasma cortisol low"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008165","name":"obsolete Decreased helper T cell proportion","obsolete":true,"parents":[],"replaced_by":["HP:0032218"],"synonyms":[]} +{"alt_ids":["HP:0003644","HP:0008300"],"definition":"Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma.","id":"HP:0008166","name":"Decreased beta-galactosidase activity","obsolete":false,"parents":["HP:0004342"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Beta-galactosidase deficiency in fibroblasts and white blood cells"},{"scope":"EXACT","text":"Beta-galactosidase-1 deficiency"},{"scope":"EXACT","text":"Decreased beta galactosidase activity"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008167","name":"Very long chain fatty acid accumulation","obsolete":false,"parents":["HP:0032243"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X.","id":"HP:0008169","name":"Reduced factor VII activity","obsolete":false,"parents":["HP:0010988"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Factor VII deficiency"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008176","name":"Neonatal unconjugated hyperbilirubinemia","obsolete":false,"parents":["HP:0002904"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008178","name":"Abnormal cartilage matrix","obsolete":false,"parents":["HP:0002763"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record.","id":"HP:0008179","name":"Decreased Arden ratio of electrooculogram","obsolete":false,"parents":["HP:0030454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased Arden ratio of EOG"}]} +{"alt_ids":["HP:0003211"],"definition":null,"id":"HP:0008180","name":"Mildly elevated creatine kinase","obsolete":false,"parents":["HP:0003236"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mildly elevated CPK"},{"scope":"EXACT","text":"Mildly elevated creatine phosphokinase"},{"scope":"EXACT","text":"Mildly elevated serum CK"},{"scope":"EXACT","text":"Mildly elevated serum CPK"},{"scope":"EXACT","text":"Mildly elevated serum phospho-CK"},{"scope":"EXACT","text":"Mildly increased creatine kinase"},{"scope":"EXACT","text":"Mildly increased serum creatine kinase"},{"scope":"EXACT","text":"Moderately elevated serum CK"},{"scope":"EXACT","text":"Moderately elevated serum CPK"},{"scope":"EXACT","text":"Moderately increased serum creatine kinase"}]} +{"alt_ids":[],"definition":"An absence of low-density lipoprotein cholesterol in the blood.","id":"HP:0008181","name":"Abetalipoproteinemia","obsolete":false,"parents":["HP:0003563"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008182","name":"Adrenocortical hypoplasia","obsolete":false,"parents":["HP:0000849"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small adrenal cortex"}]} +{"alt_ids":[],"definition":"The onset of puberty before the age of 9 years in boys.","id":"HP:0008185","name":"Precocious puberty in males","obsolete":false,"parents":["HP:0000826"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Early onset of puberty in males"},{"scope":"EXACT","text":"Male precocious puberty"}]} +{"alt_ids":[],"definition":"The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex.","id":"HP:0008186","name":"Adrenocortical cytomegaly","obsolete":false,"parents":["HP:0011732"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008674"],"definition":"No secondary sexual characteristics are present at puberty.","id":"HP:0008187","name":"Absence of secondary sex characteristics","obsolete":false,"parents":["HP:0008373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"No secondary sexual characteristics at puberty"}]} +{"alt_ids":[],"definition":"Thyroid dysgenesis is a descriptive term that should be avoided if more precise information is available. However, the HPO keeps retains this term because it is commonly used in the medical literature. In humans, the process of thyroid morphogenesis occurs from the 3rd to 16th week of gestation. Alterations occurring during this period may result in a thyroid gland that is absent (thyroid agenesis or athyreosis), hypoplastic (thyroid hypoplasia), or located in an unusual position (thyroid ectopy). All these entities are grouped under the term thyroid dysgenesis.","id":"HP:0008188","name":"Thyroid dysgenesis","obsolete":false,"parents":["HP:0011772"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thyroid dysplasia"}]} +{"alt_ids":[],"definition":"Decreased sensitivity toward insulin.","id":"HP:0008189","name":"Insulin insensitivity","obsolete":false,"parents":["HP:0011014"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The congenital absence of the thyroid gland.","id":"HP:0008191","name":"Thyroid agenesis","obsolete":false,"parents":["HP:0033079"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Athyroidal hypothyroidism"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008193","name":"Primary gonadal insufficiency","obsolete":false,"parents":["HP:0008373"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of multiple pancreatic islet cell adenomas.","id":"HP:0008194","name":"Multiple pancreatic beta-cell adenomas","obsolete":false,"parents":["HP:0008261"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008197","name":"Absence of pubertal development","obsolete":false,"parents":["HP:0008373"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008199","HP:0008201"],"definition":"Deficiency of parathyroid hormone with congenital onset.","id":"HP:0008198","name":"Congenital hypoparathyroidism","obsolete":false,"parents":["HP:0000829"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neonatal hypoparathyroidism"}]} +{"alt_ids":["HP:0008254"],"definition":"A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia.","id":"HP:0008200","name":"Primary hyperparathyroidism","obsolete":false,"parents":["HP:0000843"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production.","id":"HP:0008202","name":"Reduced circulating prolactin concentration","obsolete":false,"parents":["HP:0040086"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prolactin deficiency"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008204","name":"Precocious puberty with Sertoli cell tumor","obsolete":false,"parents":["HP:0000826","HP:0100619"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Precocious puberty with Sertoli cell tumour"}]} +{"alt_ids":[],"definition":"Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin.","id":"HP:0008205","name":"Insulin-dependent but ketosis-resistant diabetes","obsolete":false,"parents":["HP:0005978"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0000862","HP:0008219","HP:0008252"],"definition":"Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.","id":"HP:0008207","name":"Primary adrenal insufficiency","obsolete":false,"parents":["HP:0000846"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Addison disease"},{"scope":"RELATED","text":"Addison's disease"},{"scope":"EXACT","text":"Adrenocortical insufficiency"},{"scope":"EXACT","text":"Primary adrenocortical failure"}]} +{"alt_ids":[],"definition":"Hyperplasia of the parathyroid gland.","id":"HP:0008208","name":"Parathyroid hyperplasia","obsolete":false,"parents":["HP:0011766"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged parathyroid glands"}]} +{"alt_ids":["HP:0001587","HP:0100805"],"definition":"Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.","id":"HP:0008209","name":"Premature ovarian insufficiency","obsolete":false,"parents":["HP:0031066"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Climacterium praecox"},{"scope":"EXACT","text":"Early menopause"},{"scope":"EXACT","text":"Hypergonadotropic amenorrhea"},{"scope":"EXACT","text":"Menopause praecox"},{"scope":"EXACT","text":"Premature menopause"},{"scope":"EXACT","text":"Premature ovarian failure"},{"scope":"EXACT","text":"Primary ovarian insufficiency"}]} +{"alt_ids":[],"definition":"Aplasia of the parathyroid gland.","id":"HP:0008211","name":"Parathyroid agenesis","obsolete":false,"parents":["HP:0011768"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Parathyroid absence"},{"scope":"EXACT","text":"Parathyroid aplasia"}]} +{"alt_ids":["HP:0008192"],"definition":"A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH).","id":"HP:0008213","name":"Gonadotropin deficiency","obsolete":false,"parents":["HP:0000830"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pituitary gonadotropin deficiency"}]} +{"alt_ids":[],"definition":"A reduction below normal concentration of estradiol in the circulation.","id":"HP:0008214","name":"Decreased serum estradiol","obsolete":false,"parents":["HP:0025133"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased serum estradiol"}]} +{"alt_ids":[],"definition":"Abnormal development of the adrenal gland.","id":"HP:0008216","name":"Adrenal gland dysgenesis","obsolete":false,"parents":["HP:0011732"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Adrenal gland dysplasia"},{"scope":"EXACT","text":"Dysplastic adrenal glands"}]} +{"alt_ids":[],"definition":"Enlargement of the adrenal gland.","id":"HP:0008221","name":"Adrenal hyperplasia","obsolete":false,"parents":["HP:0011732"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged adrenal glands"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008222","name":"Female infertility","obsolete":false,"parents":["HP:0000789","HP:0000868"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Female infertility"}]} +{"alt_ids":[],"definition":"Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4).","id":"HP:0008223","name":"Compensated hypothyroidism","obsolete":false,"parents":["HP:0000821"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mild hypothyroidism"},{"scope":"EXACT","text":"Subclinical hypothyroidism"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008225","name":"Thyroid follicular hyperplasia","obsolete":false,"parents":["HP:0008249"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Insufficient amount of androgenic activity.","id":"HP:0008226","name":"Androgen insufficiency","obsolete":false,"parents":["HP:0008373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoandrogenism"}]} +{"alt_ids":[],"definition":"A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal.","id":"HP:0008227","name":"Pituitary resistance to thyroid hormone","obsolete":false,"parents":["HP:0011747"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008235"],"definition":"The presence of lymphangiectasis of the thyroid gland.","id":"HP:0008229","name":"Thyroid lymphangiectasia","obsolete":false,"parents":["HP:0011772","HP:0031842"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thyroid lymphangiectasis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008230","name":"obsolete Decreased testosterone in males","obsolete":true,"parents":[],"replaced_by":["HP:0040171"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008231","name":"Macronodular adrenal hyperplasia","obsolete":false,"parents":["HP:0008221"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008324"],"definition":"An elevated concentration of follicle-stimulating hormone in the blood.","id":"HP:0008232","name":"Elevated circulating follicle stimulating hormone level","obsolete":false,"parents":["HP:0000837","HP:0030346"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated FSH level"},{"scope":"EXACT","text":"Elevated follicle stimulating hormone"},{"scope":"EXACT","text":"Elevated follicle-stimulating hormone"},{"scope":"EXACT","text":"Elevated plasma follicle stimulating hormone"},{"scope":"EXACT","text":"Increased circulating follicle stimulating hormone level"}]} +{"alt_ids":[],"definition":"An reduced concentration of progesterone in the blood.","id":"HP:0008233","name":"Decreased circulating progesterone","obsolete":false,"parents":["HP:0031212"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased serum progesterone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008236","name":"Isosexual precocious puberty","obsolete":false,"parents":["HP:0000826"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity.","id":"HP:0008237","name":"Hypothalamic hypothyroidism","obsolete":false,"parents":["HP:0011787","HP:0012285"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tertiary hypothyroidism"}]} +{"alt_ids":[],"definition":"Developmental hypoplasia of the adrenal medulla.","id":"HP:0008239","name":"Adrenal medullary hypoplasia","obsolete":false,"parents":["HP:0000835"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small adrenal medulla"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008240","name":"Secondary growth hormone deficiency","obsolete":false,"parents":["HP:0000824"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008228"],"definition":"A state of renal tubular unresponsiveness or resistance to the action of aldosterone.","id":"HP:0008242","name":"Pseudohypoaldosteronism","obsolete":false,"parents":["HP:0011733"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008246"],"definition":"A type of adrenal hypoplasia with congenital onset.","id":"HP:0008244","name":"Congenital adrenal hypoplasia","obsolete":false,"parents":["HP:0000835"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital adrenal gland hypoplasia"}]} +{"alt_ids":["HP:0008248"],"definition":"A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion.","id":"HP:0008245","name":"Pituitary hypothyroidism","obsolete":false,"parents":["HP:0000830","HP:0011787"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low thyroid gland function due to abnormal pituitary gland"},{"scope":"EXACT","text":"Secondary hypothyroidism"},{"scope":"EXACT","text":"TSH deficient hypothyroidism"},{"scope":"EXACT","text":"Thyroid stimulating hormone deficiency"},{"scope":"EXACT","text":"Thyrotropin deficiency"}]} +{"alt_ids":["HP:0008212"],"definition":"Increased levels of thyroxine without evidence of clinical thyroid disease.","id":"HP:0008247","name":"Euthyroid hyperthyroxinemia","obsolete":false,"parents":["HP:0002926"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Asymptomatic hyperthyroxinemia"}]} +{"alt_ids":[],"definition":"Hyperplasia of the thyroid gland.","id":"HP:0008249","name":"Thyroid hyperplasia","obsolete":false,"parents":["HP:0011772"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Large thyroid"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008250","name":"obsolete Infantile hypercalcemia","obsolete":true,"parents":[],"replaced_by":["HP:0003072"],"synonyms":[]} +{"alt_ids":[],"definition":"An enlargement of the thyroid gland with congenital onset.","id":"HP:0008251","name":"Congenital goiter","obsolete":false,"parents":["HP:0000853"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital goitre"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008255","name":"Transient neonatal diabetes mellitus","obsolete":false,"parents":["HP:0000857"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008196"],"definition":"Adrenocortical adenomas are benign tumors of the adrenal cortex.","id":"HP:0008256","name":"Adrenocortical adenoma","obsolete":false,"parents":["HP:0100641"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Adrenocortical adenomas"}]} +{"alt_ids":[],"definition":"A type of adrenal hyperplasia with congenital onset.","id":"HP:0008258","name":"Congenital adrenal hyperplasia","obsolete":false,"parents":["HP:0008221"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Adrenal insufficiency secondary to a defect in the ACTH receptor.","id":"HP:0008259","name":"Adrenocorticotropin receptor defect","obsolete":false,"parents":["HP:0011734"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ACTH receptor defect"},{"scope":"EXACT","text":"ACTHR defect"},{"scope":"EXACT","text":"Adrenocorticotropic hormone-resistant adrenal insufficiency"}]} +{"alt_ids":[],"definition":"The presence of an adenoma of the pancreas with origin in a pancreatic B cell.","id":"HP:0008261","name":"Pancreatic islet cell adenoma","obsolete":false,"parents":["HP:0002894","HP:0006476","HP:0030405"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008263","name":"Thyroid defect in oxidation and organification of iodide","obsolete":false,"parents":["HP:0002926"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001932"],"definition":"The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies.","id":"HP:0008264","name":"Neutrophil inclusion bodies","obsolete":false,"parents":["HP:0011992"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008265","name":"Mitochondrial lysine transport defect","obsolete":false,"parents":["HP:0003287"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008269","name":"Increased red cell hemolysis by shear stress","obsolete":false,"parents":["HP:0001878"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix.","id":"HP:0008271","name":"Abnormal cartilage collagen","obsolete":false,"parents":["HP:0002763"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormal hyaline collagen"},{"scope":"RELATED","text":"Abnormal type II collagen"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008272","name":"Renal tubular lysine transport defect","obsolete":false,"parents":["HP:0000124"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008273","name":"Transient aminoaciduria","obsolete":false,"parents":["HP:0003355"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008275","name":"Abnormal light-adapted electroretinogram","obsolete":false,"parents":["HP:0030466"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal cone-mediated electroretinogram"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of zinc in the blood circulation.","id":"HP:0008277","name":"Abnormal circulating zinc concentration","obsolete":false,"parents":["HP:0011030"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal blood zinc concentration"},{"scope":"RELATED","text":"Abnormal zinc metabolism"},{"scope":"EXACT","text":"Abnormal zinc(2+) level"},{"scope":"EXACT","text":"Abnormality of zinc homeostasis"}]} +{"alt_ids":[],"definition":"Atrophy (wasting) of the cerebellar cortex.","id":"HP:0008278","name":"Cerebellar cortical atrophy","obsolete":false,"parents":["HP:0001272"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cerebellar cortex degeneration"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008279","name":"Transient hyperlipidemia","obsolete":false,"parents":["HP:0003077"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of ammonia in the blood with sudden onset.","id":"HP:0008281","name":"Acute hyperammonemia","obsolete":false,"parents":["HP:0001987"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperammonemia, acute"}]} +{"alt_ids":["HP:0008289"],"definition":"An increased amount of unconjugated (indirect) bilurubin in the blood.","id":"HP:0008282","name":"Unconjugated hyperbilirubinemia","obsolete":false,"parents":["HP:0002904"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake.","id":"HP:0008283","name":"Fasting hyperinsulinemia","obsolete":false,"parents":["HP:0000842"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High blood insulin levels while fasting"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008285","name":"obsolete Transient hypophosphatemia","obsolete":true,"parents":[],"replaced_by":["HP:0002148"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008288","name":"Nonketotic hyperglycinemia","obsolete":false,"parents":["HP:0002154"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A partial reduction in level of the complement component Factor H in circulation.","id":"HP:0008290","name":"Partial complement factor H deficiency","obsolete":false,"parents":["HP:0005369"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH).","id":"HP:0008291","name":"Pituitary corticotropic cell adenoma","obsolete":false,"parents":["HP:0002893"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ACTH-producing pituitary adenoma"},{"scope":"EXACT","text":"Corticotropin-secreting pituitary adenoma"}]} +{"alt_ids":[],"definition":"An increase in the level of long-chain dicarboxylic acid in the urine.","id":"HP:0008293","name":"Long-chain dicarboxylic aciduria","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine).","id":"HP:0008297","name":"Transient hyperphenylalaninemia","obsolete":false,"parents":["HP:0010893"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of dermatan sulfate in the urine.","id":"HP:0008301","name":"Dermatan sulfate excretion in urine","obsolete":false,"parents":["HP:0008155"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dermatan sulphate excretion in urine"}]} +{"alt_ids":[],"definition":"Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata.","id":"HP:0008303","name":"Olivary degeneration","obsolete":false,"parents":["HP:0011441"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008319"],"definition":"Presence of myoglobin in the urine following exercise.","id":"HP:0008305","name":"Exercise-induced myoglobinuria","obsolete":false,"parents":["HP:0002913"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Exercise-induced myoglobinuria in adults"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008306","name":"Abnormal iron deposition in mitochondria","obsolete":false,"parents":["HP:0003287"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in the level of medium chain dicarboxylic acid in the urine.","id":"HP:0008309","name":"Medium chain dicarboxylic aciduria","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lower than normal amount of myelin in the dorsal (posterior) tract of the spinal cord white matter.","id":"HP:0008311","name":"Spinal cord dorsal column hypomyelination","obsolete":false,"parents":["HP:0007305","HP:0011397"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spinal cord posterior columns myelin loss"}]} +{"alt_ids":[],"definition":"A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria.","id":"HP:0008314","name":"Decreased activity of mitochondrial complex II","obsolete":false,"parents":["HP:0008972"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Respiratory complex II deficiency"}]} +{"alt_ids":[],"definition":"A decreased concentration of free (unbound) carnitine in the blood.","id":"HP:0008315","name":"Decreased plasma free carnitine","obsolete":false,"parents":["HP:0003234"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the mitochondria in muscle tissue.","id":"HP:0008316","name":"Abnormal mitochondria in muscle tissue","obsolete":false,"parents":["HP:0003287","HP:0011805"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal mitochondria in muscle"}]} +{"alt_ids":[],"definition":"Increased alkaline phosphatase measured within leukocytes.","id":"HP:0008318","name":"Elevated leukocyte alkaline phosphatase","obsolete":false,"parents":["HP:0003155"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated leukocyte ALP"}]} +{"alt_ids":[],"definition":"Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.","id":"HP:0008320","name":"Impaired collagen-induced platelet aggregation","obsolete":false,"parents":["HP:0003540"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa).","id":"HP:0008321","name":"Reduced factor X activity","obsolete":false,"parents":["HP:0010990"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased factor x activity"},{"scope":"RELATED","text":"Factor X deficiency"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the mitochondria.","id":"HP:0008322","name":"Abnormal mitochondrial morphology","obsolete":false,"parents":["HP:0012103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal mitochondrion morphology"}]} +{"alt_ids":[],"definition":"An abnormality of the combined rod-and-cone response on electroretinogram.","id":"HP:0008323","name":"Abnormal light- and dark-adapted electroretinogram","obsolete":false,"parents":["HP:0030466"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal rod and cone electroretinogram"}]} +{"alt_ids":[],"definition":"An abnormally decreased concentration of vitamin B6 in the blood circulation.","id":"HP:0008326","name":"Reduced circulating vitamin B6 circulating","obsolete":false,"parents":["HP:0032476"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced circulating vitamin B6 level"},{"scope":"EXACT","text":"Reduced vitamin b6 levels"},{"scope":"EXACT","text":"Vitamin B6 deficiency"}]} +{"alt_ids":[],"definition":"The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma.","id":"HP:0008327","name":"Microscopic nephrocalcinosis","obsolete":false,"parents":["HP:0000121"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.","id":"HP:0008330","name":"Reduced von Willebrand factor activity","obsolete":false,"parents":["HP:0012146"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased von willebrand factor activity"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008331","name":"Elevated creatine kinase after exercise","obsolete":false,"parents":["HP:0003236"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated CK after exercise"},{"scope":"EXACT","text":"Elevated CPK after exercise"},{"scope":"EXACT","text":"Elevated creatine phosphokinase after exercise"},{"scope":"EXACT","text":"Elevated phospho-CK after exercise"},{"scope":"EXACT","text":"Elevated phospho-creatine kinase after exercise"},{"scope":"EXACT","text":"Increased CK after exercise"},{"scope":"EXACT","text":"Increased creatine kinase after exercise"},{"scope":"EXACT","text":"Increased creatine phosphokinase after exercise"},{"scope":"EXACT","text":"Increased phospho-CK after exercise"},{"scope":"EXACT","text":"Increased phospho-creatine kinase after exercise"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008335","name":"obsolete Renal aminoaciduria","obsolete":true,"parents":[],"replaced_by":["HP:0003355"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008336","name":"Complex organic aciduria","obsolete":false,"parents":["HP:0001992"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A partial reduction in level of the complement component Factor D in circulation.","id":"HP:0008338","name":"Partial functional complement factor D deficiency","obsolete":false,"parents":["HP:0004431"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial functional adipsin deficiency"},{"scope":"EXACT","text":"Partial functional factor d deficiency"}]} +{"alt_ids":[],"definition":"An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine).","id":"HP:0008339","name":"Diaminoaciduria","obsolete":false,"parents":["HP:0033100"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia.","id":"HP:0008341","name":"Distal renal tubular acidosis","obsolete":false,"parents":["HP:0001947"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Renal tubular acidosis, type I"}]} +{"alt_ids":[],"definition":"The concentration of branched-chain amino acid in the blood circulation is above the upper limit of normal.","id":"HP:0008344","name":"Elevated circulating branched-chain amino acid concentration","obsolete":false,"parents":["HP:0010892"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated branched-chain amino acid concentration"},{"scope":"EXACT","text":"Elevated branched-chain amino acid level"},{"scope":"EXACT","text":"Elevated branched-chain amino acid level in blood"},{"scope":"EXACT","text":"Increased branched-chain amino acid concentration"},{"scope":"EXACT","text":"Increased branched-chain amino acid level"},{"scope":"EXACT","text":"Increased branched-chain amino acid level in blood"}]} +{"alt_ids":[],"definition":"Underdevelopment of the dilatator pupillae.","id":"HP:0008345","name":"Hypoplasia of the iris dilator muscle","obsolete":false,"parents":["HP:0007676"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplasia of the pupil dilator muscle"},{"scope":"EXACT","text":"Underdeveloped iris dilator muscle"},{"scope":"EXACT","text":"Underdeveloped pupil dilator muscle"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008346","name":"Increased red cell sickling tendency","obsolete":false,"parents":["HP:0011895"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased sickling of erythrocytes"},{"scope":"EXACT","text":"Increased sickling of red cells"}]} +{"alt_ids":[],"definition":"A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.","id":"HP:0008347","name":"Decreased activity of mitochondrial complex IV","obsolete":false,"parents":["HP:0008972"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Respiratory complex IV deficiency"}]} +{"alt_ids":["HP:0008310"],"definition":"A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation.","id":"HP:0008348","name":"Decreased circulating IgG2 concentration","obsolete":false,"parents":["HP:0032135"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased IgG2 level in blood"},{"scope":"EXACT","text":"Decreased circulating IgG2 level"},{"scope":"EXACT","text":"Immunoglobulin IgG2 deficiency"},{"scope":"EXACT","text":"Reduced IgG2 levels"}]} +{"alt_ids":[],"definition":"An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation.","id":"HP:0008352","name":"Impaired platelet adhesion","obsolete":false,"parents":["HP:0011869"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Impaired thrombocytes adhesion"}]} +{"alt_ids":[],"definition":"The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine.","id":"HP:0008353","name":"Neutral hyperaminoaciduria","obsolete":false,"parents":["HP:0033100"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced ability to transform factor X into its activated form factor Xa.","id":"HP:0008354","name":"Factor X activation deficiency","obsolete":false,"parents":["HP:0008321"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008356","name":"obsolete Combined hyperlipidemia","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot.","id":"HP:0008357","name":"Reduced factor XIII activity","obsolete":false,"parents":["HP:0010990"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of proline in the blood circulation is above the upper limit of normal.","id":"HP:0008358","name":"Hyperprolinemia","obsolete":false,"parents":["HP:0010907"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated proline concentration"},{"scope":"EXACT","text":"Elevated proline level"},{"scope":"EXACT","text":"Elevated proline level in blood"},{"scope":"EXACT","text":"Increased proline concentration"},{"scope":"EXACT","text":"Increased proline level"},{"scope":"EXACT","text":"Increased proline level in blood"},{"scope":"EXACT","text":"Prolinemia"}]} +{"alt_ids":[],"definition":"A neonatal decreased concentration of proteins in the blood.","id":"HP:0008360","name":"Neonatal hypoproteinemia","obsolete":false,"parents":["HP:0003075"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008361","name":"Corticospinal tract pallor","obsolete":false,"parents":["HP:0002492"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004694","HP:0008118","HP:0008126"],"definition":"Absence or underdevelopment of the big toe.","id":"HP:0008362","name":"Aplasia/Hypoplasia of the hallux","obsolete":false,"parents":["HP:0001844","HP:0010760"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small big toe"},{"scope":"EXACT","text":"Absent/underdeveloped big toe"},{"scope":"EXACT","text":"Aplastic/hypoplastic halluces"}]} +{"alt_ids":["HP:0008109"],"definition":"Absence or underdevelopment of the tarsal bones.","id":"HP:0008363","name":"Aplasia/Hypoplasia of the tarsal bones","obsolete":false,"parents":["HP:0001850","HP:0006494"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small ankle bone"},{"scope":"EXACT","text":"Absent/underdeveloped ankle bone"},{"scope":"EXACT","text":"Aplastic/hypoplastic tarsals"}]} +{"alt_ids":[],"definition":"An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel.","id":"HP:0008364","name":"Abnormality of the calcaneus","obsolete":false,"parents":["HP:0001850"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal heel bone"}]} +{"alt_ids":[],"definition":"An abnormality of the talus.","id":"HP:0008365","name":"Abnormal talus morphology","obsolete":false,"parents":["HP:0001850"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal large bone of ankle"}]} +{"alt_ids":["HP:0100492"],"definition":"Contractures of one or more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue.","id":"HP:0008366","name":"Foot joint contracture","obsolete":false,"parents":["HP:0001760","HP:0005750"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Contractures involving the joints of the feet"},{"scope":"EXACT","text":"Contractures of the foot joints"},{"scope":"EXACT","text":"Joint contractures involving the joints of the feet"}]} +{"alt_ids":["HP:0001851","HP:0001957","HP:0008092","HP:0100330"],"definition":"Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).","id":"HP:0008368","name":"Tarsal synostosis","obsolete":false,"parents":["HP:0001850","HP:0009140","HP:0100266"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused ankle bones"},{"scope":"EXACT","text":"Synostosis involving tarsal bones"},{"scope":"EXACT","text":"Synostosis of tarsal bones"},{"scope":"EXACT","text":"Tarsal bone fusion"},{"scope":"EXACT","text":"Tarsal bone synostosis"},{"scope":"EXACT","text":"Tarsal fusion"},{"scope":"EXACT","text":"Tarsal fusions"}]} +{"alt_ids":[],"definition":"An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.","id":"HP:0008369","name":"Abnormal tarsal ossification","obsolete":false,"parents":["HP:0001850","HP:0010675"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormal maturation of ankle bones"},{"scope":"EXACT","text":"Abnormal ossification of tarsal bones"},{"scope":"EXACT","text":"Hardening of ankle bones"}]} +{"alt_ids":[],"definition":"Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years.","id":"HP:0008371","name":"Abnormal metatarsal ossification","obsolete":false,"parents":["HP:0001832","HP:0010675"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormal maturation of long bone of foot"},{"scope":"EXACT","text":"Abnormal ossification involving metatarsal bones"}]} +{"alt_ids":[],"definition":"Concentration of vitamin A in the blood circulation outside limits of normal.","id":"HP:0008372","name":"Abnormal circulating vitamin A concentration","obsolete":false,"parents":["HP:0020350"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0000827"],"definition":null,"id":"HP:0008373","name":"Puberty and gonadal disorders","obsolete":false,"parents":["HP:0000818"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Puberty and gonadal disorders"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008376","name":"Nasal dysarthria","obsolete":false,"parents":["HP:0001260"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Breathy speech"}]} +{"alt_ids":["HP:0008411"],"definition":"Nails whose growth is slower than normal.","id":"HP:0008383","name":"Slow-growing nails","obsolete":false,"parents":["HP:0030807"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Slow-growing nails"}]} +{"alt_ids":["HP:0008385"],"definition":"Aplasia or developmental hypoplasia of the nail.","id":"HP:0008386","name":"Aplasia/Hypoplasia of the nails","obsolete":false,"parents":["HP:0001597"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/hypoplastic nails"},{"scope":"EXACT","text":"Absent/small nails"},{"scope":"EXACT","text":"Absent/underdeveloped nails"},{"scope":"EXACT","text":"Nail aplasia/hypoplasia"}]} +{"alt_ids":[],"definition":"An anomaly of the toenail.","id":"HP:0008388","name":"Abnormal toenail 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+{"alt_ids":[],"definition":"A thickening of the stratum corneum in the region beneath the nails.","id":"HP:0008392","name":"Subungual hyperkeratosis","obsolete":false,"parents":["HP:0000962","HP:0009723"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thickened, discolored skin under nail"},{"scope":"EXACT","text":"Thickened, discoloured skin under nail"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008393","name":"Congenital curved nail of fourth toe","obsolete":false,"parents":["HP:0008388"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008394","name":"Congenital onychodystrophy","obsolete":false,"parents":["HP:0002164"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Congenital malformed nails"}]} +{"alt_ids":[],"definition":"Chronic infection of the nails by Candida species.","id":"HP:0008396","name":"Chronic monilial nail infection","obsolete":false,"parents":["HP:0001597"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fungal infection of the nail"}]} +{"alt_ids":["HP:0200103"],"definition":"A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger.","id":"HP:0008398","name":"Hypoplastic fifth fingernail","obsolete":false,"parents":["HP:0001804"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Underdeveloped fifth fingernail"},{"scope":"EXACT","text":"Underdeveloped fingernail of little finger"},{"scope":"EXACT","text":"Underdeveloped fingernail of pinkie finger"},{"scope":"EXACT","text":"Underdeveloped fingernail of pinky finger"}]} +{"alt_ids":[],"definition":"A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails.","id":"HP:0008399","name":"Circumungual hyperkeratosis","obsolete":false,"parents":["HP:0000962","HP:0100803"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thick skin around nails"}]} +{"alt_ids":[],"definition":"Detachment of the distal fingernails from the nail bed.","id":"HP:0008400","name":"Onycholysis of distal fingernails","obsolete":false,"parents":["HP:0040039"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Detachment of outermost fingernails"}]} +{"alt_ids":["HP:0008395","HP:0008405"],"definition":"Thickened toenails.","id":"HP:0008401","name":"Onychogryphosis of toenails","obsolete":false,"parents":["HP:0001805"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Overgrowth and curving of toenails"}]} +{"alt_ids":[],"definition":"Longitudinal, linear prominences in the fingernail plate.","id":"HP:0008402","name":"Ridged fingernail","obsolete":false,"parents":["HP:0001231","HP:0001807"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Longitudinally grooved fingernails"},{"scope":"EXACT","text":"Ridged fingernail"},{"scope":"RELATED","text":"Ridged fingernails"}]} +{"alt_ids":["HP:0008382","HP:0008397","HP:0008408"],"definition":"Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.","id":"HP:0008404","name":"Nail dystrophy","obsolete":false,"parents":["HP:0001597"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dystrophic nails"},{"scope":"EXACT","text":"Onychodystrophy"},{"scope":"EXACT","text":"Poor nail formation"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008407","name":"Hyperconvex thumb nails","obsolete":false,"parents":["HP:0001795"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tightly curved thumb nail"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008410","name":"Subungual hyperkeratotic fragments","obsolete":false,"parents":["HP:0000962","HP:0009723"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008414","name":"Lumbar kyphosis in infancy","obsolete":false,"parents":["HP:0008454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hunched back in infancy"},{"scope":"EXACT","text":"Round back in infancy"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008416","name":"Six lumbar vertebrae","obsolete":false,"parents":["HP:0002946"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008431"],"definition":"Small, underdeveloped vertebral bodies.","id":"HP:0008417","name":"Vertebral hypoplasia","obsolete":false,"parents":["HP:0008515"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Underdeveloped vertebrae"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008418","name":"Squared-off platyspondyly","obsolete":false,"parents":["HP:0000926"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of degenerative changes of intervertebral disk.","id":"HP:0008419","name":"Intervertebral disk degeneration","obsolete":false,"parents":["HP:0005108"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Degeneration of intervertebral discs"},{"scope":"EXACT","text":"Degeneration of intervertebral disks"},{"scope":"EXACT","text":"Degenerative disc disease"},{"scope":"EXACT","text":"Degenerative disk disease"},{"scope":"EXACT","text":"Degenerative intervertebral disc"},{"scope":"EXACT","text":"Degenerative intervertebral disk"}]} +{"alt_ids":[],"definition":"The presence of punctiform calcification of the bone of the vertebral bodies.","id":"HP:0008420","name":"Punctate vertebral calcifications","obsolete":false,"parents":["HP:0003468"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008421","name":"Tall lumbar vertebral bodies","obsolete":false,"parents":["HP:0004570"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.","id":"HP:0008422","name":"Vertebral wedging","obsolete":false,"parents":["HP:0003312"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wedge-shaped vertebrae"},{"scope":"EXACT","text":"Wedged vertebrae"},{"scope":"EXACT","text":"anterior wedging"}]} +{"alt_ids":[],"definition":"The presence of developmental dysplasia of the vertebral column.","id":"HP:0008423","name":"Spinal dysplasia","obsolete":false,"parents":["HP:0000925"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008424","name":"Hypoplastic 5th lumbar vertebrae","obsolete":false,"parents":["HP:0008417"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Underdeveloped 5th lumbar vertebrae"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008425","name":"Cuboid-shaped thoracolumbar vertebral bodies","obsolete":false,"parents":["HP:0004634"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0000942"],"definition":"Schisis (cleft or cleavage) of vertebral bodies.","id":"HP:0008428","name":"Vertebral clefting","obsolete":false,"parents":["HP:0003312"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vertebral clefts"}]} +{"alt_ids":["HP:0005664"],"definition":"Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine.","id":"HP:0008430","name":"Anterior beaking of lumbar vertebrae","obsolete":false,"parents":["HP:0004568"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anterior tongue-like protrusion of lumbar vertebral bodies"}]} +{"alt_ids":[],"definition":"An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front).","id":"HP:0008432","name":"Anterior wedging of L1","obsolete":false,"parents":["HP:0008422"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008433","name":"Reversed usual vertebral column curves","obsolete":false,"parents":["HP:0000925"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008415"],"definition":null,"id":"HP:0008434","name":"Hypoplastic cervical vertebrae","obsolete":false,"parents":["HP:0008417","HP:0011041"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cervical vertebrae hypoplasia"},{"scope":"EXACT","text":"Underdeveloped cervical vertebrae"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008435","name":"Absent in utero ossification of vertebral bodies","obsolete":false,"parents":["HP:0004606"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008436","name":"Absent/hypoplastic coccyx","obsolete":false,"parents":["HP:0008517"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small tailbone"},{"scope":"EXACT","text":"Absent/underdeveloped tailbone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008437","name":"Bifid thoracic vertebrae","obsolete":false,"parents":["HP:0003312"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra.","id":"HP:0008438","name":"Vertebral arch anomaly","obsolete":false,"parents":["HP:0003312"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vertebral arch abnormalities"}]} +{"alt_ids":[],"definition":"Absence of one half of the vertebral body in the lumbar spine.","id":"HP:0008439","name":"Lumbar hemivertebrae","obsolete":false,"parents":["HP:0002937"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality of the atlas and the axis.","id":"HP:0008440","name":"C1-C2 vertebral abnormality","obsolete":false,"parents":["HP:0003319"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of one or more herniated nucleus pulposus of intervertebral disk.","id":"HP:0008441","name":"Herniation of intervertebral nuclei","obsolete":false,"parents":["HP:0005108"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Herniated disc"},{"scope":"BROAD","text":"Herniated disk"},{"scope":"EXACT","text":"Herniated intervertebral nuclei"}]} +{"alt_ids":[],"definition":"Excessive growth of the bones of the vertebral bodies.","id":"HP:0008442","name":"Vertebral hyperostosis","obsolete":false,"parents":["HP:0003468","HP:0100774"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. 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sensorineural hearing impairment with onset after the acquisition of speech.","id":"HP:0008596","name":"Postlingual sensorineural hearing impairment","obsolete":false,"parents":["HP:0011474"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A mild form of conductive hearing impairment.","id":"HP:0008598","name":"Mild conductive hearing impairment","obsolete":false,"parents":["HP:0000405","HP:0012712"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Conductive hearing loss, mild"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008605","name":"Unilateral external ear deformity","obsolete":false,"parents":["HP:0000377"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deformed external ear on one side"}]} +{"alt_ids":[],"definition":"Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit.","id":"HP:0008606","name":"Supraauricular 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malformation"},{"scope":"EXACT","text":"Morphological abnormality of the middle ear"}]} +{"alt_ids":[],"definition":"A form of sensorineural hearing impairment with infantile onset.","id":"HP:0008610","name":"Infantile sensorineural hearing impairment","obsolete":false,"parents":["HP:0011474"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Infantile sensorineural hearing loss"}]} +{"alt_ids":["HP:0008532","HP:0008599"],"definition":"The presence of sensorineural deafness with late onset.","id":"HP:0008615","name":"Adult onset sensorineural hearing impairment","obsolete":false,"parents":["HP:0000407"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Late sensorineural hearing loss"},{"scope":"EXACT","text":"Sensorineural deafness, late-onset"}]} +{"alt_ids":["HP:0008530","HP:0008539","HP:0008579","HP:0008585"],"definition":"A form of sensorineural hearing impairment that affects both ears.","id":"HP:0008619","name":"Bilateral sensorineural hearing 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+{"alt_ids":["HP:0000361"],"definition":"Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation.","id":"HP:0008629","name":"Pulsatile tinnitus","obsolete":false,"parents":["HP:0000360"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental anomaly of the ureter.","id":"HP:0008631","name":"Ureteral dysgenesis","obsolete":false,"parents":["HP:0025633"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females).","id":"HP:0008633","name":"Agonadism","obsolete":false,"parents":["HP:0000812"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent gonadal tissue"},{"scope":"EXACT","text":"Gonadal agenesis"}]} +{"alt_ids":[],"definition":"Increase in thickness of the wall of the urinary bladder. This finding may be seen in conditions such as bladder outlet obstruction and may be accompanied by increased trabeculation of the bladder wall musculature.","id":"HP:0008635","name":"Urinary bladder wall hypertrophy","obsolete":false,"parents":["HP:0025487"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypertrophic urinary bladder"},{"scope":"EXACT","text":"Hypertrophy of the urinary bladder wall"},{"scope":"EXACT","text":"Urinary bladder wall thickening"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008636","name":"obsolete Lobular glomerulopathy","obsolete":true,"parents":[],"replaced_by":["HP:0100820"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008639","name":"Gonadal hypoplasia","obsolete":false,"parents":["HP:0000812"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Underdeveloped gonad"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008640","name":"Congenital macroorchidism","obsolete":false,"parents":["HP:0000053"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood.","id":"HP:0008643","name":"Nephroblastomatosis","obsolete":false,"parents":["HP:0011794"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008647","name":"Pubertal developmental failure in females","obsolete":false,"parents":["HP:0008197"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008648","name":"obsolete Anteriorly displaced urethral meatus","obsolete":true,"parents":[],"replaced_by":["HP:0100627"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008651","name":"Uric acid urolithiasis independent of gout","obsolete":false,"parents":["HP:0000791"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system.","id":"HP:0008652","name":"Autonomic erectile dysfunction","obsolete":false,"parents":["HP:0012332","HP:0100639"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Impotence due to autonomic dysfunction"}]} +{"alt_ids":[],"definition":"A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation.","id":"HP:0008653","name":"Crescentic glomerulonephritis","obsolete":false,"parents":["HP:0000099"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Aplasia or developmental hypoplasia of the fallopian tube.","id":"HP:0008655","name":"Aplasia/Hypoplasia of the fallopian tube","obsolete":false,"parents":["HP:0011027"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Absent or rudimentary fallopian tubes"},{"scope":"EXACT","text":"Absent/small fallopian tube"},{"scope":"EXACT","text":"Absent/underdeveloped fallopian tube"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008656","name":"Incomplete male pseudohermaphroditism","obsolete":false,"parents":["HP:0000037"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005569","HP:0100956"],"definition":"The presence of many cysts in the medulla of the kidney.","id":"HP:0008659","name":"Multiple small medullary renal cysts","obsolete":false,"parents":["HP:0000107","HP:0100957"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Medullary cystic disease"},{"scope":"RELATED","text":"Medullary sponge kidney disease"}]} +{"alt_ids":[],"definition":"A developmental defect characterized by absence or poor development of proximal renal tubules.","id":"HP:0008660","name":"Renotubular dysgenesis","obsolete":false,"parents":["HP:0000091"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Renal tubular dysgenesis"}]} +{"alt_ids":[],"definition":"Abnormal narrowing of the urethra.","id":"HP:0008661","name":"Urethral stenosis","obsolete":false,"parents":["HP:0000796"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrowing of the urethra"}]} +{"alt_ids":[],"definition":"A sarcoma of the kidney.","id":"HP:0008663","name":"Renal sarcoma","obsolete":false,"parents":["HP:0009726","HP:0100242"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008664","name":"Urethral sphincter sclerosis","obsolete":false,"parents":["HP:0008661"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0000057","HP:0008728"],"definition":"Hypertrophy of the clitoris.","id":"HP:0008665","name":"Clitoral hypertrophy","obsolete":false,"parents":["HP:0040253"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Clitoral enlargement"},{"scope":"EXACT","text":"Clitoromegaly"},{"scope":"EXACT","text":"Enlarged clitoris"},{"scope":"EXACT","text":"Hypertrophic clitoris"},{"scope":"EXACT","text":"Prominent clitoris"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008666","name":"Impaired histidine renal tubular absorption","obsolete":false,"parents":["HP:0011038"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation.","id":"HP:0008668","name":"Gonadal dysgenesis, male","obsolete":false,"parents":["HP:0000133"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"46,xy gonadal dysgenesis"}]} +{"alt_ids":[],"definition":"Incomplete maturation or aberrant formation of the male gametes.","id":"HP:0008669","name":"Abnormal spermatogenesis","obsolete":false,"parents":["HP:0000025"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormal sperm development"},{"scope":"EXACT","text":"Impaired spermatogenesis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008670","name":"Partial vaginal septum","obsolete":false,"parents":["HP:0001153"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008700","HP:0008725"],"definition":"The presence of calcium- and oxalate-containing calculi (stones) in the kidneys.","id":"HP:0008672","name":"Calcium oxalate nephrolithiasis","obsolete":false,"parents":["HP:0004724"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ca oxalate kidney stone"},{"scope":"EXACT","text":"Ca oxalate nephrolithiasis"},{"scope":"EXACT","text":"Ca oxalate urolithiasis"},{"scope":"EXACT","text":"Ca2+ oxalate kidney stone"},{"scope":"EXACT","text":"Ca2+ oxalate nephrolithiasis"},{"scope":"EXACT","text":"Ca2+ oxalate urolithiasis"},{"scope":"EXACT","text":"Calcium oxalate kidney stones"},{"scope":"RELATED","text":"Calcium oxalate urolithiasis"},{"scope":"EXACT","text":"Oxalate nephrolithiasis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008675","name":"Enlarged polycystic ovaries","obsolete":false,"parents":["HP:0000147","HP:0100879"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged ovaries with cysts"}]} +{"alt_ids":[],"definition":"A developmental disturbance with extreme ureteral dilatation.","id":"HP:0008676","name":"Congenital megaureter","obsolete":false,"parents":["HP:0000072"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital megaloureter"},{"scope":"EXACT","text":"Primary megaloureter"},{"scope":"EXACT","text":"Primary megaureter"}]} +{"alt_ids":[],"definition":"Nephrotic syndrome with onset within the first three months of life.","id":"HP:0008677","name":"Congenital nephrotic syndrome","obsolete":false,"parents":["HP:0000100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital nephrosis"}]} +{"alt_ids":["HP:0004744","HP:0008701"],"definition":"Absence or underdevelopment of the kidney.","id":"HP:0008678","name":"Renal hypoplasia/aplasia","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small kidney"},{"scope":"EXACT","text":"Absent/underdeveloped kidney"},{"scope":"EXACT","text":"Renal agenesis/hypoplasia"},{"scope":"EXACT","text":"Renal aplasia/hypoplasia"}]} +{"alt_ids":[],"definition":"Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%).","id":"HP:0008682","name":"Renal tubular epithelial necrosis","obsolete":false,"parents":["HP:0000091","HP:0032618"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acute tubular necrosis"},{"scope":"EXACT","text":"Renal tubular necrosis"}]} +{"alt_ids":["HP:0008662","HP:0008694"],"definition":"Increase in size of the folds of skin between the outer labia.","id":"HP:0008683","name":"Enlarged labia minora","obsolete":false,"parents":["HP:0000065","HP:0012880"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypertrophic labia minora"},{"scope":"EXACT","text":"Labia minora hypertrophy"}]} +{"alt_ids":[],"definition":"Absence or developmental hypoplasia of the uterus.","id":"HP:0008684","name":"Aplasia/hypoplasia of the uterus","obsolete":false,"parents":["HP:0000130"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small uterus"},{"scope":"EXACT","text":"Absent/underdeveloped uterus"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008687","name":"Hypoplasia of the prostate","obsolete":false,"parents":["HP:0008775"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic prostate"},{"scope":"EXACT","text":"Underdeveloped prostate"}]} +{"alt_ids":["HP:0008686"],"definition":"Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","id":"HP:0008689","name":"Bilateral cryptorchidism","obsolete":false,"parents":["HP:0000028"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cryptorchidism, bilateral"}]} +{"alt_ids":[],"definition":"Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder.","id":"HP:0008691","name":"Solitary bladder diverticulum","obsolete":false,"parents":["HP:0000015"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008694","name":"obsolete Hypertrophic labia minora","obsolete":true,"parents":[],"replaced_by":["HP:0008683"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008695","name":"Transient nephrotic syndrome","obsolete":false,"parents":["HP:0000100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Transient nephrosis"}]} +{"alt_ids":[],"definition":"A disordered proliferation of mature tissues that are native to the kidneys.","id":"HP:0008696","name":"Renal hamartoma","obsolete":false,"parents":["HP:0009726","HP:0010566"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Developmental hypoplasia of the fallopian tube.","id":"HP:0008697","name":"Hypoplasia of the fallopian tube","obsolete":false,"parents":["HP:0008655"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rudimentary fallopian tubes"},{"scope":"EXACT","text":"Underdeveloped fallopian tube"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008702","name":"Absent internal genitalia","obsolete":false,"parents":["HP:0000812"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deposition of calcium salts in gonadal tissue.","id":"HP:0008703","name":"Gonadal calcification","obsolete":false,"parents":["HP:0000812","HP:0010766"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008705","name":"Ureteral triplication","obsolete":false,"parents":["HP:0000073"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008706","name":"Distal urethral duplication","obsolete":false,"parents":["HP:0000795"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Congenital absence of the scrotum.","id":"HP:0008707","name":"Absent scrotum","obsolete":false,"parents":["HP:0000045"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent scrotum"}]} +{"alt_ids":[],"definition":"A congenital condition of the external male genitalia in which the shaft of the penis fails to fully develop.","id":"HP:0008708","name":"Partial development of the penile shaft","obsolete":false,"parents":["HP:0000036"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of non-malignant hyperplasia of the prostate.","id":"HP:0008711","name":"Benign prostatic hyperplasia","obsolete":false,"parents":["HP:0008775"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Benign prostatic hypertrophy"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008714","name":"Ureterovesical stenosis","obsolete":false,"parents":["HP:0000071"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008715","name":"obsolete Testicular dysgenesis","obsolete":true,"parents":[],"replaced_by":["HP:0008733"],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a fistula between the vagina and the urethra.","id":"HP:0008716","name":"Urethrovaginal fistula","obsolete":false,"parents":["HP:0004320","HP:0010480"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Urethrovaginal fistulae"}]} +{"alt_ids":[],"definition":"A unilateral form of atrophy of the kidney.","id":"HP:0008717","name":"Unilateral renal atrophy","obsolete":false,"parents":["HP:0012585"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Kidney degeneration on one side"},{"scope":"EXACT","text":"Unilateral kidney wasting"}]} +{"alt_ids":[],"definition":"A unilateral form of developmental dysplasia of the kidney.","id":"HP:0008718","name":"Unilateral renal dysplasia","obsolete":false,"parents":["HP:0000110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008720","name":"Primary testicular failure","obsolete":false,"parents":["HP:0000035"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a diverticulum (sac or pouch) in the wall of the urethra.","id":"HP:0008722","name":"Urethral diverticulum","obsolete":false,"parents":["HP:0000795"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation.","id":"HP:0008723","name":"Gonadal dysgenesis with female appearance, male","obsolete":false,"parents":["HP:0000133"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Xy female gonadal dysgenesis"}]} +{"alt_ids":[],"definition":"Developmental hypoplasia of the ovary.","id":"HP:0008724","name":"Hypoplasia of the ovary","obsolete":false,"parents":["HP:0010462"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic ovary"},{"scope":"EXACT","text":"Underdeveloped ovary"}]} +{"alt_ids":["HP:0011938"],"definition":"Developmental hypoplasia of the vagina.","id":"HP:0008726","name":"Hypoplasia of the vagina","obsolete":false,"parents":["HP:0011026"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic vagina"},{"scope":"EXACT","text":"Rudimentary vagina"},{"scope":"EXACT","text":"Underdeveloped vagina"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008729","name":"Absence of labia majora","obsolete":false,"parents":["HP:0012881"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent vaginal lips"}]} +{"alt_ids":["HP:0008719"],"definition":"The presence of female external genitalia in a person with a male karyotype.","id":"HP:0008730","name":"Female external genitalia in individual with 46,XY karyotype","obsolete":false,"parents":["HP:0000032"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Males with female external genitalia"}]} +{"alt_ids":[],"definition":"Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion.","id":"HP:0008732","name":"Renal hypophosphatemia","obsolete":false,"parents":["HP:0002148"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008715"],"definition":"A descriptive term denoting a developmental anomaly of the male gonad characterized by architectural disorganization of the testicular parenchyma, which may include irregular or poorly formed seminiferous tubules, a thinned tunica albuginea, and increased or fibrotic interstitial tissue. Macroscopically, the testis may range from near-normal in size and appearance to a small, firm, or streak-like structure.","id":"HP:0008733","name":"Dysplastic testis","obsolete":false,"parents":["HP:0000035"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Dysgenetic testis"},{"scope":"EXACT","text":"Dysplastic testes"},{"scope":"RELATED","text":"Testicular dysgenesis"}]} +{"alt_ids":["HP:0000043"],"definition":"Reduced volume of the testicle (the male gonad).","id":"HP:0008734","name":"Decreased testicular size","obsolete":false,"parents":["HP:0000050","HP:0010468"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased testicular size"},{"scope":"EXACT","text":"Decreased testicular volume"},{"scope":"EXACT","text":"Hypoplastic testes"},{"scope":"EXACT","text":"Reduced testicular volume"},{"scope":"EXACT","text":"Small testes"},{"scope":"EXACT","text":"Small testis"},{"scope":"EXACT","text":"Testicular hypoplasia"}]} +{"alt_ids":["HP:0008632"],"definition":null,"id":"HP:0008736","name":"Hypoplasia of penis","obsolete":false,"parents":["HP:0000036","HP:0000050"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Underdeveloped penis"}]} +{"alt_ids":[],"definition":"The presence of a partially duplicated kidney.","id":"HP:0008738","name":"Partially duplicated kidney","obsolete":false,"parents":["HP:0000075"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partially duplicated kidney"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008739","name":"Labial pseudohypertrophy","obsolete":false,"parents":["HP:0000065"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008698"],"definition":"The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication.","id":"HP:0008740","name":"Longitudinal vaginal septum","obsolete":false,"parents":["HP:0001153"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vertical vaginal septum"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008742","name":"Prominent prostate median bar","obsolete":false,"parents":["HP:0008775"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A mild form of hypospadias in which the urethra opens just under the corona glandis, that is, where the head of the penis meets the shaft.","id":"HP:0008743","name":"Coronal hypospadias","obsolete":false,"parents":["HP:0003244"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Subcoronal hypospadias"}]} +{"alt_ids":[],"definition":"An abnormality of the aryepiglottic fold.","id":"HP:0008744","name":"Abnormal aryepiglottic fold morphology","obsolete":false,"parents":["HP:0025423"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal aryepiglottic folds"},{"scope":"EXACT","text":"Abnormality of the aryepiglottic fold"}]} +{"alt_ids":[],"definition":"Ossification affecting the set of cartilages of larynx.","id":"HP:0008747","name":"Cartilaginous ossification of larynx","obsolete":false,"parents":["HP:0025423"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005935"],"definition":"Underdevelopment of the larynx.","id":"HP:0008749","name":"Laryngeal hypoplasia","obsolete":false,"parents":["HP:0025423"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic larynx"}]} +{"alt_ids":[],"definition":"Congenital absence of the lumen of the larynx. Laryngeal atresia is a rare condition. If the laryngeal opening fails to develop, fluid secreted by the lungs cannot be expelled. In a fetus with laryngeal atresia, the lungs are either normal or hyperplastic, not hypoplastic. Mortality is reported as 100%. At obstetric US examination, views of the fetal neck demonstrate a dilated trachea filled with trapped fluid. Views of the fetal chest show enlarged, hyperechoic lungs, with dilated fluid-filled bronchi. Fetal ascites is usually present.","id":"HP:0008750","name":"Laryngeal atresia","obsolete":false,"parents":["HP:0025423"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esophagus.","id":"HP:0008751","name":"Laryngeal cleft","obsolete":false,"parents":["HP:0025423"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Laryngotracheal cleft"},{"scope":"EXACT","text":"Laryngotracheoesophageal cleft i"}]} +{"alt_ids":["HP:0008375"],"definition":"A malformation of the laryngeal cartilage.","id":"HP:0008752","name":"Laryngeal cartilage malformation","obsolete":false,"parents":["HP:0025423"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vocal impairment, severe, due to laryngeal cartilage abnormalities"}]} +{"alt_ids":[],"definition":"Absence of the epiglottis.","id":"HP:0008753","name":"Aplasia of the epiglottis","obsolete":false,"parents":["HP:0010565"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent epiglottis"}]} +{"alt_ids":["HP:0008748"],"definition":"Calcification (abnormal deposits of calcium) in the laryngeal tissues.","id":"HP:0008754","name":"Laryngeal calcification","obsolete":false,"parents":["HP:0010766","HP:0025423"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Laryngeal calcifications"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008755","name":"Laryngotracheomalacia","obsolete":false,"parents":["HP:0002779"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bowing (abnormal curvature) of the vocal folds.","id":"HP:0008756","name":"Bowing of the vocal cords","obsolete":false,"parents":["HP:0008777"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A loss of the ability to move the vocal fold on one side.","id":"HP:0008757","name":"Unilateral vocal cord paralysis","obsolete":false,"parents":["HP:0001605"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unilateral paralysis of the vocal cord"}]} +{"alt_ids":[],"definition":"Conduct and/or behavior, both verbal and non-verbal, including but not limited to verbal and/or physical aggression, attacks, threats, harassment, intimidation, and other disruptive behaviors in any form or through any medium, that cause or have the potential to cause a reasonable person to fear physical harm from any individual(s) or group(s) towards any person(s) or property. This is commonly defined as a violent act characterized by the use of physical force, anger, or sudden intense activity.","id":"HP:0008760","name":"Violent behavior","obsolete":false,"parents":["HP:0000718"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Violent behavior"},{"scope":"EXACT","text":"Violent behaviour"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008762","name":"Repetitive compulsive behavior","obsolete":false,"parents":["HP:0031432"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Repetitive compulsive behavior"},{"scope":"EXACT","text":"Repetitive compulsive behaviour"}]} +{"alt_ids":[],"definition":"Lack of intentional participation in interactions with another person.","id":"HP:0008763","name":"No social interaction","obsolete":false,"parents":["HP:5200024"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"No social interaction"}]} +{"alt_ids":["HP:0000714"],"definition":"Perception of sounds without auditory stimulus.","id":"HP:0008765","name":"Auditory hallucination","obsolete":false,"parents":["HP:0000738"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hallucinations of sound"},{"scope":"EXACT","text":"Hearing sounds"}]} +{"alt_ids":[],"definition":"Uncontrolled movements result in tissue damage to the tongue and lips.","id":"HP:0008767","name":"Self-mutilation of tongue and lips due to involuntary movements","obsolete":false,"parents":["HP:0004305","HP:0100716"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Self-mutilation of tongue and lips due to involuntary movements"}]} +{"alt_ids":[],"definition":"A deviation of sexual behaviors from the personal norms of the individual in the context of socially and culturally recognized patterns of human sexual behaviors.","id":"HP:0008768","name":"Abnormal sexual behavior","obsolete":false,"parents":["HP:0000708"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inappropriate sexual behavior"},{"scope":"EXACT","text":"Inappropriate sexual behaviour"}]} +{"alt_ids":["HP:0008761"],"definition":"The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant.","id":"HP:0008770","name":"Obsessive-compulsive trait","obsolete":false,"parents":["HP:0000722"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Obsessive-compulsive trait"},{"scope":"EXACT","text":"Obsessive-compulsive traits"}]} +{"alt_ids":[],"definition":"The presence of aplasia or developmental hypoplasia of the ear.","id":"HP:0008771","name":"Aplasia/Hypoplasia of the ear","obsolete":false,"parents":["HP:0031703"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small ear"},{"scope":"EXACT","text":"Absent/underdeveloped ear"}]} +{"alt_ids":[],"definition":"The presence of aplasia or developmental hypoplasia of all or part of the external ear.","id":"HP:0008772","name":"Aplasia/Hypoplasia of the external ear","obsolete":false,"parents":["HP:0000377","HP:0008771"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small external ear"},{"scope":"EXACT","text":"Absent/underdeveloped external ear"}]} +{"alt_ids":["HP:0008533","HP:0008548"],"definition":"Aplasia or developmental hypoplasia of all or part of the middle ear.","id":"HP:0008773","name":"Aplasia/Hypoplasia of the middle ear","obsolete":false,"parents":["HP:0008609","HP:0008771"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small middle ear"},{"scope":"EXACT","text":"Absent/underdeveloped middle ear"},{"scope":"EXACT","text":"Hypoplastic/aplastic middle ear structures"},{"scope":"EXACT","text":"Middle ear hypoplasia/aplasia"}]} +{"alt_ids":[],"definition":"Aplasia or developmental hypoplasia of the inner ear.","id":"HP:0008774","name":"Aplasia/Hypoplasia of the inner ear","obsolete":false,"parents":["HP:0008771","HP:0011390"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small inner ear"},{"scope":"EXACT","text":"Absent/underdeveloped inner ear"}]} +{"alt_ids":[],"definition":"An abnormality of the prostate.","id":"HP:0008775","name":"Abnormal prostate morphology","obsolete":false,"parents":["HP:0000022"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the prostate"}]} +{"alt_ids":[],"definition":"Any structural abnormality of the renal artery.","id":"HP:0008776","name":"Abnormal renal artery morphology","obsolete":false,"parents":["HP:0020317","HP:0033836"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal kidney artery"},{"scope":"EXACT","text":"Abnormality of the renal artery"}]} +{"alt_ids":[],"definition":"An abnormality of the vocal cord.","id":"HP:0008777","name":"Abnormal vocal cord morphology","obsolete":false,"parents":["HP:0025423"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the vocal cords"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008780","name":"Congenital bilateral hip dislocation","obsolete":false,"parents":["HP:0001374"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008790"],"definition":"Increased width of the proximal part of the shaft (metaphysis) of the femur.","id":"HP:0008783","name":"Wide proximal femoral metaphysis","obsolete":false,"parents":["HP:0006417","HP:0006431"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide metaphysis of innermost thighbone"}]} +{"alt_ids":[],"definition":"Abnormally wide morphology of the proximal epiphysis of the femur.","id":"HP:0008784","name":"Wide capital femoral epiphyses","obsolete":false,"parents":["HP:0010574"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide end part of innermost thighbone"}]} +{"alt_ids":[],"definition":"Delayed maturation and calcification of the rami (branches) of the pubic bone.","id":"HP:0008785","name":"Delayed ossification of pubic rami","obsolete":false,"parents":["HP:0009105"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008825"],"definition":"Irregularities of the iliac crest that produce the appearance of a lace border around it.","id":"HP:0008786","name":"Iliac crest serration","obsolete":false,"parents":["HP:0003796"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular lacy iliac crest"},{"scope":"EXACT","text":"Lacy appearance of iliac crest"}]} +{"alt_ids":["HP:0008795","HP:0008827"],"definition":"Delayed maturation and calcification of the pubic bone.","id":"HP:0008788","name":"Delayed pubic bone ossification","obsolete":false,"parents":["HP:0009105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent pubic ossification in infancy"},{"scope":"RELATED","text":"Delayed maturation of pubic bone"},{"scope":"RELATED","text":"Delayed mineralization of pubic bone"}]} +{"alt_ids":[],"definition":"A cone-shaped deformity of the proximal epiphysis of the femur.","id":"HP:0008789","name":"Cone-shaped capital femoral epiphysis","obsolete":false,"parents":["HP:0010574","HP:0010579"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of innermost thighbone"},{"scope":"EXACT","text":"Tear drop-shaped capital femoral epiphysis"}]} +{"alt_ids":[],"definition":"A general term that describes a congenital defect in the iliac wing resulting from abnormal development.","id":"HP:0008794","name":"Dysplastic iliac wing","obsolete":false,"parents":["HP:0011867"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dysplastic iliac wings"}]} +{"alt_ids":["HP:0003783","HP:0031070"],"definition":"An abnormal backward rotation of the hip relative to the knee such that the hips are externally rotated with the foot pointed outward instead of straight ahead (out-toeing).","id":"HP:0008796","name":"Femoral retroversion","obsolete":false,"parents":["HP:0031069"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased femoral torsion"},{"scope":"EXACT","text":"Externally rotated hips"}]} +{"alt_ids":[],"definition":"Developmental acceleration of ossification of the proximal epiphysis of the femur.","id":"HP:0008797","name":"Early ossification of capital femoral epiphyses","obsolete":false,"parents":["HP:0009107","HP:0010574","HP:0010656"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0010457"],"definition":"The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch.","id":"HP:0008798","name":"Widened greater sciatic notch","obsolete":false,"parents":["HP:0010456"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Widened sacrosciatic notch"},{"scope":"EXACT","text":"Widening of the sacrosciatic notch"}]} +{"alt_ids":[],"definition":"A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip.","id":"HP:0008800","name":"Limited hip movement","obsolete":false,"parents":["HP:0001376"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Limited hip movement"}]} +{"alt_ids":[],"definition":"Underdevelopment of the lesser trochanter.","id":"HP:0008801","name":"Hypoplasia of the lesser trochanter","obsolete":false,"parents":["HP:0003366"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lesser trochanter hypoplasia"}]} +{"alt_ids":["HP:0008831"],"definition":"Underdevelopment of the femoral head.","id":"HP:0008802","name":"Hypoplasia of the femoral head","obsolete":false,"parents":["HP:0003368","HP:0009108"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic femoral head"},{"scope":"EXACT","text":"Small femoral heads"},{"scope":"EXACT","text":"Small head of thigh bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008803","name":"obsolete Narrow sacroiliac notch","obsolete":true,"parents":[],"replaced_by":["HP:0003375"],"synonyms":[]} +{"alt_ids":[],"definition":"Increased width of the femoral head.","id":"HP:0008804","name":"Broad femoral head","obsolete":false,"parents":["HP:0003368"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide head of thigh bone"}]} +{"alt_ids":["HP:0008799"],"definition":"A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain.","id":"HP:0008807","name":"Acetabular dysplasia","obsolete":false,"parents":["HP:0003170"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Decreased femoral head coverage by acetabulum"},{"scope":"EXACT","text":"Dysplastic acetabulae"}]} +{"alt_ids":["HP:0008778"],"definition":"Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).","id":"HP:0008808","name":"High iliac wing","obsolete":false,"parents":["HP:0011867"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High iliac wings"},{"scope":"EXACT","text":"Narrow, high iliac wings"}]} +{"alt_ids":[],"definition":"An abnormally flattened femoral head.","id":"HP:0008812","name":"Flattened femoral head","obsolete":false,"parents":["HP:0003368"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flat head of thigh bone"},{"scope":"RELATED","text":"Flattened femoral heads"}]} +{"alt_ids":[],"definition":"A developmental defect characterized by lack of development of the pubis bone.","id":"HP:0008817","name":"Aplastic pubic bone","obsolete":false,"parents":["HP:0009104"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent pubic bones"},{"scope":"EXACT","text":"Aplastic pubic bones"}]} +{"alt_ids":[],"definition":"Increased size of the ilium ala.","id":"HP:0008818","name":"Large iliac wing","obsolete":false,"parents":["HP:0011867"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Large iliac wings"}]} +{"alt_ids":[],"definition":"An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).","id":"HP:0008819","name":"Narrow femoral neck","obsolete":false,"parents":["HP:0003367"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Narrow femoral necks"},{"scope":"EXACT","text":"Narrow neck of thigh bone"}]} +{"alt_ids":[],"definition":"Lack of ossification of the proximal epiphysis of the femur.","id":"HP:0008820","name":"Absent ossification of capital femoral epiphysis","obsolete":false,"parents":["HP:0005003","HP:0009107","HP:0010656"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent ossification of femoral capital epiphyses"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008821","name":"Hypoplastic inferior ilia","obsolete":false,"parents":["HP:0000946"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium.","id":"HP:0008822","name":"Hypoplastic ischiopubic ramus","obsolete":false,"parents":["HP:0003173","HP:0003175"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic ischiopubic rami"}]} +{"alt_ids":[],"definition":"Underdevelopment of the lower branch of the pubis bone (inferior pubic ramus).","id":"HP:0008823","name":"Inferior pubic ramus hypoplasia","obsolete":false,"parents":["HP:0008830"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic inferior pubic rami"}]} +{"alt_ids":["HP:0005740"],"definition":"Underdevelopment of the body of ilium.","id":"HP:0008824","name":"Hypoplastic iliac body","obsolete":false,"parents":["HP:0000946"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic iliac bodies"},{"scope":"EXACT","text":"Small iliac bodies"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008826","name":"obsolete Dislocation of the femoral head","obsolete":true,"parents":[],"replaced_by":["HP:0002827"],"synonyms":[]} +{"alt_ids":[],"definition":"Developmental delay of ossification of the proximal epiphysis of the femur.","id":"HP:0008828","name":"Delayed proximal femoral epiphyseal ossification","obsolete":false,"parents":["HP:0002663","HP:0009107","HP:0010574"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delayed ossification of the proximal femoral epiphysis"},{"scope":"EXACT","text":"Delayed ossification proximal femoral epiphyses"}]} +{"alt_ids":[],"definition":"Delayed ossification of the femoral head.","id":"HP:0008829","name":"Delayed femoral head ossification","obsolete":false,"parents":["HP:0003368","HP:0009107"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Delayed maturation of the head of the thigh bone"}]} +{"alt_ids":[],"definition":"Underdevelopment of a ramus (branch) of the pubic bone.","id":"HP:0008830","name":"Hypoplastic pubic ramus","obsolete":false,"parents":["HP:0003173"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic pubic rami"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008833","name":"Irregular acetabular roof","obsolete":false,"parents":["HP:0003170"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers.","id":"HP:0008835","name":"Multicentric femoral head ossification","obsolete":false,"parents":["HP:0009107"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008838","name":"Stippled calcification proximal humeral epiphyses","obsolete":false,"parents":["HP:0003901"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in end part of innermost long bone of upper arm"}]} +{"alt_ids":["HP:0003373","HP:0008816"],"definition":"Underdevelopment of the bony pelvis.","id":"HP:0008839","name":"Hypoplastic pelvis","obsolete":false,"parents":["HP:0009103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic pelvic bones"},{"scope":"EXACT","text":"Small pelvis"}]} +{"alt_ids":["HP:0008809"],"definition":null,"id":"HP:0008843","name":"Hip osteoarthritis","obsolete":false,"parents":["HP:0002758"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Osteoarthritis of hip"}]} +{"alt_ids":["HP:0008896","HP:0008903","HP:0008910"],"definition":"A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg).","id":"HP:0008845","name":"Mesomelic short stature","obsolete":false,"parents":["HP:0008873"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dwarfism, short limb mesomelic"},{"scope":"EXACT","text":"Mesomelic dwarfism"},{"scope":"EXACT","text":"Short stature, disproportionate mesomelic"},{"scope":"EXACT","text":"Short stature, mesomelic"}]} +{"alt_ids":["HP:0008899","HP:0008906"],"definition":"Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age.","id":"HP:0008846","name":"Severe intrauterine growth retardation","obsolete":false,"parents":["HP:0001511"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intrauterine growth retardation, severe"},{"scope":"EXACT","text":"Severe prenatal growth deficiency"}]} +{"alt_ids":["HP:0008891"],"definition":"A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex.","id":"HP:0008848","name":"Moderately short stature","obsolete":false,"parents":["HP:0003508"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Moderate short stature"},{"scope":"RELATED","text":"Short stature, moderate"}]} +{"alt_ids":["HP:0001521","HP:0008854","HP:0008911","HP:0008932"],"definition":"Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms.","id":"HP:0008850","name":"Severe postnatal growth retardation","obsolete":false,"parents":["HP:0008897"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Marked growth retardation"},{"scope":"EXACT","text":"Severe growth delay in children"},{"scope":"EXACT","text":"Severe postnatal growth deficiency"},{"scope":"EXACT","text":"Severe postnatal growth failure"}]} +{"alt_ids":[],"definition":"A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms.","id":"HP:0008855","name":"Moderate postnatal growth retardation","obsolete":false,"parents":["HP:0008897"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Moderate growth delay in children"}]} +{"alt_ids":[],"definition":"A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth.","id":"HP:0008857","name":"Neonatal short-trunk short stature","obsolete":false,"parents":["HP:0003521"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short-trunk dwarfism identifiable at birth"}]} +{"alt_ids":[],"definition":"Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections.","id":"HP:0008866","name":"Failure to thrive secondary to recurrent infections","obsolete":false,"parents":["HP:0001508"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Faltering weight secondary to recurrent infections"},{"scope":"EXACT","text":"Weight faltering secondary to recurrent infections"}]} +{"alt_ids":["HP:0002016","HP:0002022","HP:0002568"],"definition":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","id":"HP:0008872","name":"Feeding difficulties in infancy","obsolete":false,"parents":["HP:0011968"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001523","HP:0003505","HP:0003509","HP:0008858","HP:0008869","HP:0008875","HP:0008880","HP:0008881","HP:0008889","HP:0008912","HP:0008914","HP:0008928"],"definition":"A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.","id":"HP:0008873","name":"Disproportionate short-limb short stature","obsolete":false,"parents":["HP:0003498"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brachymelic dwarfism"},{"scope":"EXACT","text":"Disproportionate short limb dwarfism"},{"scope":"EXACT","text":"Dwarfism, short-limbed"},{"scope":"EXACT","text":"Micromelic dwarfism"},{"scope":"RELATED","text":"Short limb dwarfism"},{"scope":"EXACT","text":"Short limb dwarfism, disproportionate"},{"scope":"EXACT","text":"Short stature, disproportionate short limb"},{"scope":"EXACT","text":"Short stature, disproportionate short-limb"},{"scope":"EXACT","text":"Short-limb dwarfism"},{"scope":"EXACT","text":"Short-limbed dwarfism"}]} +{"alt_ids":["HP:0008861"],"definition":"Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age.","id":"HP:0008883","name":"Mild intrauterine growth retardation","obsolete":false,"parents":["HP:0001511"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mild prenatal growth deficiency"}]} +{"alt_ids":["HP:0008938"],"definition":"A reduction in the amount of adipose tissue (fat) compared with the amount previously present in an individual.","id":"HP:0008887","name":"Adipose tissue loss","obsolete":false,"parents":["HP:0040063"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Loss of fat tissue"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008890","name":"Severe short-limb dwarfism","obsolete":false,"parents":["HP:0008873"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008844","HP:0008865","HP:0008868","HP:0008901","HP:0008918"],"definition":"Slow or limited growth after birth.","id":"HP:0008897","name":"Postnatal growth retardation","obsolete":false,"parents":["HP:0001510"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Growth delay as children"},{"scope":"EXACT","text":"Growth retardation as children"},{"scope":"EXACT","text":"Postnatal growth deceleration"},{"scope":"EXACT","text":"Postnatal growth deficiency"},{"scope":"EXACT","text":"Postnatal growth failure"}]} +{"alt_ids":["HP:0002968","HP:0003520","HP:0008852","HP:0008877"],"definition":"Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).","id":"HP:0008905","name":"Rhizomelia","obsolete":false,"parents":["HP:0008873","HP:0009826"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disproportionately short upper portion of limb"},{"scope":"EXACT","text":"Rhizomelic dwarfism"},{"scope":"EXACT","text":"Rhizomelic limb shortening"},{"scope":"EXACT","text":"Rhizomelic short limbs"},{"scope":"EXACT","text":"Rhizomelic short stature"},{"scope":"EXACT","text":"Rhizomelic shortening"},{"scope":"EXACT","text":"Short stature, rhizomelic"},{"scope":"EXACT","text":"Symmetrical rhizomelic limb shortening"}]} +{"alt_ids":["HP:0003506"],"definition":null,"id":"HP:0008909","name":"Lethal short-limbed short stature","obsolete":false,"parents":["HP:0008873"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lethal micromelic dwarfism"},{"scope":"EXACT","text":"Lethal short-limbed dwarfism"}]} +{"alt_ids":["HP:0008874"],"definition":"Truncal obesity with onset during childhood, defined as between 2 and 10 years of age.","id":"HP:0008915","name":"Childhood-onset truncal obesity","obsolete":false,"parents":["HP:0001956"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Truncal obesity apparent in childhood"}]} +{"alt_ids":["HP:0001536","HP:0008894","HP:0008902","HP:0008924"],"definition":"A type of short-limbed dwarfism that is manifest beginning in the neonatal period.","id":"HP:0008921","name":"Neonatal short-limb short stature","obsolete":false,"parents":["HP:0008873"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dwarfism, neonatal short-limbed"},{"scope":"EXACT","text":"Neonatal short-limbed dwarfism"},{"scope":"EXACT","text":"Short limb dwarfism recognisable at birth"},{"scope":"EXACT","text":"Short limb dwarfism recognizable at birth"},{"scope":"EXACT","text":"Short-limb dwarfism identifiable at birth"},{"scope":"EXACT","text":"Short-limb dwarfism identifiable neonatally"},{"scope":"EXACT","text":"Short-limbed dwarfism identifiable at birth"}]} +{"alt_ids":["HP:0003522"],"definition":"A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood.","id":"HP:0008922","name":"Childhood-onset short-trunk short stature","obsolete":false,"parents":["HP:0003521"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Childhood-onset short-trunk short stature"},{"scope":"EXACT","text":"Disproportionate short-trunk short stature, identifiable in childhood"},{"scope":"EXACT","text":"Short-trunk dwarfism identifiable during childhood"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008929","name":"Asymmetric short stature","obsolete":false,"parents":["HP:0004322"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature.","id":"HP:0008935","name":"Generalized neonatal hypotonia","obsolete":false,"parents":["HP:0001319"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised low muscle tone in neonate"},{"scope":"EXACT","text":"Generalised neonatal hypotonia"},{"scope":"EXACT","text":"Generalized low muscle tone in neonate"},{"scope":"EXACT","text":"Hypotonia, neonatal, generalised"},{"scope":"EXACT","text":"Hypotonia, neonatal, generalized"}]} +{"alt_ids":["HP:0002320","HP:0009062"],"definition":"Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.","id":"HP:0008936","name":"Axial hypotonia","obsolete":false,"parents":["HP:0001252"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low muscle tone in trunk"},{"scope":"EXACT","text":"Muscular hypotonia of the trunk"},{"scope":"EXACT","text":"Truncal hypotonia"}]} +{"alt_ids":[],"definition":"A generalized form of lymphadenopathy.","id":"HP:0008940","name":"Generalized lymphadenopathy","obsolete":false,"parents":["HP:0002716"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised lymphadenopathy"},{"scope":"EXACT","text":"Generalised swelling of lymph nodes"},{"scope":"EXACT","text":"Generalized swelling of lymph nodes"},{"scope":"EXACT","text":"Swollen lymph nodes affecting all regions of the body"}]} +{"alt_ids":[],"definition":"An acute form of rhabdomyolysis.","id":"HP:0008942","name":"Acute rhabdomyolysis","obsolete":false,"parents":["HP:0003201"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rhabdomyolysis, acute"}]} +{"alt_ids":["HP:0003442","HP:0003714","HP:0006975","HP:0008949","HP:0009001"],"definition":"Muscular atrophy of distal leg muscles.","id":"HP:0008944","name":"Distal lower limb amyotrophy","obsolete":false,"parents":["HP:0003693","HP:0007210"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lower leg amyotrophy"},{"scope":"RELATED","text":"Lower limb atrophy"},{"scope":"EXACT","text":"Lower limb degeneration"},{"scope":"RELATED","text":"Lower limb muscle hypotrophy"},{"scope":"EXACT","text":"Muscle atrophy, lower limb, distal"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008945","name":"Loss of ability to walk in early childhood","obsolete":false,"parents":["HP:0002505"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle.","id":"HP:0008946","name":"Pelvic girdle amyotrophy","obsolete":false,"parents":["HP:0003797"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hip girdle amyotrophy"}]} +{"alt_ids":["HP:0002449","HP:0002523","HP:0010572"],"definition":"Floppiness/hypotonia is defined as reduced resistance to passive movement of joints. Physical examination of floppy/hypotonic infants shows head lag, lack of shoulder and elbow muscle contraction on traction response, inability to tighten the shoulder girdle muscles (or slipping through) when held under the axillae, scarf sign (when the arm is pulled to the opposite side, the arm wraps around the neck with the elbow crossing midline), hyperdorsiflexion of the feet, easy apposition of the thumb against the forearm, feet touching the cheek with ease and without discomfort, frog leg position, and inverted U sign on ventral suspension (head, arms, and legs hanging down without elbow or knee flexion and the trunk rounded in a dome shape).","id":"HP:0008947","name":"Floppy infant","obsolete":false,"parents":["HP:0001252"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased muscle tone in infant"},{"scope":"EXACT","text":"Hypotonia early"},{"scope":"EXACT","text":"Hypotonia in infancy"},{"scope":"EXACT","text":"Hypotonia, early"},{"scope":"EXACT","text":"Infantile hypotonia"},{"scope":"EXACT","text":"Infantile muscular hypotonia"}]} +{"alt_ids":["HP:0008995"],"definition":"Muscular atrophy affecting proximally located muscles of the arms.","id":"HP:0008948","name":"Proximal upper limb amyotrophy","obsolete":false,"parents":["HP:0001457","HP:0007126"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Proximal muscle atrophy in upper limbs"},{"scope":"EXACT","text":"Proximal upper limb muscle atrophy"}]} +{"alt_ids":[],"definition":"Underdevelopment of muscles of the shoulder.","id":"HP:0008952","name":"Shoulder muscle hypoplasia","obsolete":false,"parents":["HP:0001464","HP:0009004"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Underdeveloped shoulder muscle"}]} +{"alt_ids":[],"definition":"Underdevelopment of the pectoralis major.","id":"HP:0008953","name":"Pectoralis major hypoplasia","obsolete":false,"parents":["HP:0011957"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pectoralis major muscle hypoplasia"}]} +{"alt_ids":[],"definition":"Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles.","id":"HP:0008954","name":"Intrinsic hand muscle atrophy","obsolete":false,"parents":["HP:0009130"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Progressive muscular atrophy affecting muscles in the distal portions of the extremities.","id":"HP:0008955","name":"Progressive distal muscular atrophy","obsolete":false,"parents":["HP:0003693"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003748","HP:0008974"],"definition":"Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.","id":"HP:0008956","name":"Proximal lower limb amyotrophy","obsolete":false,"parents":["HP:0001441","HP:0007126"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Amyotrophy involving the thigh"},{"scope":"EXACT","text":"Amyotrophy of the thigh musculature"},{"scope":"EXACT","text":"Proximal lower limb muscle atrophy"},{"scope":"EXACT","text":"Thigh muscle atrophy"},{"scope":"EXACT","text":"Wasting of thigh muscle"}]} +{"alt_ids":[],"definition":"Reduced strength of the distal musculature of the arms.","id":"HP:0008959","name":"Distal upper limb muscle weakness","obsolete":false,"parents":["HP:0002460","HP:0003484"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of the muscuklature of the calf.","id":"HP:0008962","name":"Calf muscle hypoplasia","obsolete":false,"parents":["HP:0001430","HP:0009004"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic calf muscles"},{"scope":"EXACT","text":"Underdeveloped calf muscles"}]} +{"alt_ids":[],"definition":"Muscle weakness affecting the tibialis anterior muscle.","id":"HP:0008963","name":"Tibialis muscle weakness","obsolete":false,"parents":["HP:0009053"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Muscular atrophy that does not display a progression in severity with time.","id":"HP:0008964","name":"Nonprogressive muscular atrophy","obsolete":false,"parents":["HP:0003202"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003633"],"definition":"A type of muscle stiffness that occurs following physical exertion.","id":"HP:0008967","name":"Exercise-induced muscle stiffness","obsolete":false,"parents":["HP:0003552"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Exercise-induced muscle stiffness"},{"scope":"EXACT","text":"Muscle stiffness with exercise"},{"scope":"EXACT","text":"Muscle stiffness, exercise-induced"}]} +{"alt_ids":[],"definition":"Muscle hypertrophy primarily affecting the legs.","id":"HP:0008968","name":"Muscle hypertrophy of the lower extremities","obsolete":false,"parents":["HP:0001437","HP:0003712"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008969","name":"Leg muscle stiffness","obsolete":false,"parents":["HP:0001437","HP:0003552"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0008970","name":"Scapulohumeral muscular dystrophy","obsolete":false,"parents":["HP:0003560"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased activity of the mitochondrial respiratory chain.","id":"HP:0008972","name":"Decreased activity of mitochondrial respiratory chain","obsolete":false,"parents":["HP:0011922"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Decreased activities of mitochondrial-encoded respiratory chain complexes"},{"scope":"RELATED","text":"Decreased activity of mitochondrial respiratory complexes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0008978","name":"Necrotizing myopathy","obsolete":false,"parents":["HP:0003198"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003703","HP:0009024"],"definition":"Muscle hypertrophy affecting the calf muscles.","id":"HP:0008981","name":"Calf muscle hypertrophy","obsolete":false,"parents":["HP:0001430","HP:0008968"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Calf hypertrophy"},{"scope":"EXACT","text":"Increased size of calf muscles"},{"scope":"EXACT","text":"Muscular hypertrophy of the calf muscles"}]} +{"alt_ids":[],"definition":"Underdevelopment of muscles of the neck.","id":"HP:0008984","name":"Neck muscle hypoplasia","obsolete":false,"parents":["HP:0009004","HP:0025668"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased size of neck muscle"},{"scope":"RELATED","text":"Deficiency of neck muscle"},{"scope":"RELATED","text":"Hypotrophic neck muscle"},{"scope":"EXACT","text":"Small neck muscle"},{"scope":"EXACT","text":"Underdevelopment of neck muscle"}]} +{"alt_ids":[],"definition":"An abnormal increase in the amount of intramuscular fat tissue.","id":"HP:0008985","name":"Increased intramuscular fat","obsolete":false,"parents":["HP:0009126","HP:0011805"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased IM fat"},{"scope":"EXACT","text":"Increased intramuscular fat"}]} +{"alt_ids":[],"definition":"Congenital lack, i.e., aplasia of the diaphragm.","id":"HP:0008986","name":"Agenesis of the diaphragm","obsolete":false,"parents":["HP:0010315"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent diaphragm"},{"scope":"RELATED","text":"Agenesis of diaphragm"}]} +{"alt_ids":["HP:0008992"],"definition":"Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles).","id":"HP:0008988","name":"Pelvic girdle muscle atrophy","obsolete":false,"parents":["HP:0001445","HP:0001471"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pelvic girdle muscle wasting"}]} +{"alt_ids":[],"definition":"Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion.","id":"HP:0008991","name":"Exercise-induced leg cramps","obsolete":false,"parents":["HP:0003710"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal increase in the amount of intraabdominal fat tissue.","id":"HP:0008993","name":"Increased intraabdominal fat","obsolete":false,"parents":["HP:0009126"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002455","HP:0008941"],"definition":"A lack of strength of the proximal muscles of the legs.","id":"HP:0008994","name":"Proximal lower limb muscle weakness","obsolete":false,"parents":["HP:0003690","HP:0003701"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle weakness, proximal, lower limbs"},{"scope":"EXACT","text":"Proximal muscle weakness in lower limbs"}]} +{"alt_ids":[],"definition":"A lack of strength of the proximal muscles of the arms.","id":"HP:0008997","name":"Proximal upper limb muscle weakness","obsolete":false,"parents":["HP:0001446","HP:0003484","HP:0003701"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Proximal muscle weakness in upper limbs"}]} +{"alt_ids":[],"definition":"Underdevelopment of the pectoral muscle.","id":"HP:0008998","name":"Pectoralis hypoplasia","obsolete":false,"parents":["HP:0005258","HP:0009004"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic pectoral muscle"},{"scope":"EXACT","text":"Small pec muscle"},{"scope":"EXACT","text":"Underdeveloped pec muscle"}]} +{"alt_ids":["HP:0008989"],"definition":"Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk.","id":"HP:0009002","name":"Loss of truncal subcutaneous adipose tissue","obsolete":false,"parents":["HP:0008887"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Loss of fat tissue in trunk"},{"scope":"EXACT","text":"Loss of subcutaneous truncal adipose tissue"},{"scope":"EXACT","text":"Loss of truncal adipose tissue"}]} +{"alt_ids":[],"definition":"The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body.","id":"HP:0009003","name":"Increased subcutaneous truncal adipose tissue","obsolete":false,"parents":["HP:0001001","HP:0009126"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abundant adipose panniculus"},{"scope":"EXACT","text":"Increased fat below the skin in trunk"}]} +{"alt_ids":["HP:0009034"],"definition":"Underdevelopment of the musculature.","id":"HP:0009004","name":"Hypoplasia of the musculature","obsolete":false,"parents":["HP:0001460"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle hypoplasia"},{"scope":"EXACT","text":"Poorly developed skeletal musculature"},{"scope":"EXACT","text":"Underdeveloped muscle"},{"scope":"EXACT","text":"Underdeveloped muscles"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009005","name":"Weakness of the intrinsic hand muscles","obsolete":false,"parents":["HP:0001421"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Intrinsic hand muscle weakness"}]} +{"alt_ids":[],"definition":"Underdevelopment of the biceps muscle.","id":"HP:0009007","name":"Biceps hypoplasia","obsolete":false,"parents":["HP:0009782","HP:0030239"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic biceps"},{"scope":"EXACT","text":"Underdeveloped biceps"}]} +{"alt_ids":[],"definition":"Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula.","id":"HP:0009011","name":"Hypoplasia of serratus anterior muscle","obsolete":false,"parents":["HP:0009131"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0009013","name":"Congenital absence of gluteal muscles","obsolete":false,"parents":["HP:0001443","HP:0001471"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of muscles of the arm.","id":"HP:0009016","name":"Upper limb muscle hypoplasia","obsolete":false,"parents":["HP:0001467","HP:0009004"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Underdevelopment of upper limb muscles"}]} +{"alt_ids":[],"definition":"Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region.","id":"HP:0009017","name":"Loss of gluteal subcutaneous adipose tissue","obsolete":false,"parents":["HP:0008887"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Loss of fat tissue below the skin in gluts"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009019","name":"Progressive loss of facial adipose tissue","obsolete":false,"parents":["HP:0000292"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atrophy of facial adipose tissue"},{"scope":"EXACT","text":"Facial fat atrophy"},{"scope":"EXACT","text":"Facial fat wasting"},{"scope":"EXACT","text":"Loss of subcutaneous adipose tissue from face, progressive"},{"scope":"EXACT","text":"Progressive loss of facial fat"},{"scope":"EXACT","text":"Progressive loss of facial subcutaneous adipose tissue"},{"scope":"EXACT","text":"Progressive loss of subcutaneous adipose tissue from face"}]} +{"alt_ids":[],"definition":"An abnormally increased tendency towards muscle fatigue induced by physical exercise.","id":"HP:0009020","name":"Exercise-induced muscle fatigue","obsolete":false,"parents":["HP:0003750"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001546","HP:0004873"],"definition":"Decreased strength of the abdominal musculature.","id":"HP:0009023","name":"Abdominal wall muscle weakness","obsolete":false,"parents":["HP:0001324"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lax abdominal musculature"}]} +{"alt_ids":[],"definition":"The presence of an abnormally increased amount of connective tissue.","id":"HP:0009025","name":"Increased connective tissue","obsolete":false,"parents":["HP:0003549"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula.","id":"HP:0009026","name":"Hypoplasia of latissimus dorsi muscle","obsolete":false,"parents":["HP:0009131"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003377"],"definition":"Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.","id":"HP:0009027","name":"Foot dorsiflexor weakness","obsolete":false,"parents":["HP:0003690"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foot drop"},{"scope":"EXACT","text":"Foot extensor weakness"},{"scope":"EXACT","text":"Footdrop"},{"scope":"EXACT","text":"Inability to heel walk"},{"scope":"EXACT","text":"Inability to walk on heels"}]} +{"alt_ids":[],"definition":"Generalized weakness of the muscles of the arms and legs.","id":"HP:0009028","name":"Generalized weakness of limb muscles","obsolete":false,"parents":["HP:0009127"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised weakness of limb muscles"}]} +{"alt_ids":[],"definition":"Atrophy of the muscles of the ankle.","id":"HP:0009031","name":"Amyotrophy of ankle musculature","obsolete":false,"parents":["HP:0001436"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0009037","name":"Segmental spinal muscular atrophy","obsolete":false,"parents":["HP:0007269"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0009042","name":"obsolete Marked muscular hypertrophy","obsolete":true,"parents":[],"replaced_by":["HP:0003712"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0009044","name":"obsolete Hypoplasia of deltoid muscle","obsolete":true,"parents":[],"replaced_by":["HP:0030241"],"synonyms":[]} +{"alt_ids":[],"definition":"Rhabdomyolysis induced by exercise.","id":"HP:0009045","name":"Exercise-induced rhabdomyolysis","obsolete":false,"parents":["HP:0003201"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rhabdomyolysis with exercise"}]} +{"alt_ids":[],"definition":"Reduced ability to run.","id":"HP:0009046","name":"Difficulty running","obsolete":false,"parents":["HP:0004302"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Difficulty running"}]} +{"alt_ids":["HP:0008939","HP:0008982"],"definition":"Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius).","id":"HP:0009049","name":"Peroneal muscle atrophy","obsolete":false,"parents":["HP:0001430","HP:0003202"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Peroneal atrophy"}]} +{"alt_ids":[],"definition":"Muscular atrophy involving the quadriceps muscle.","id":"HP:0009050","name":"Quadriceps muscle atrophy","obsolete":false,"parents":["HP:0008956"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wasting of quad muscles"}]} +{"alt_ids":[],"definition":"An increased amount of glycogen in muscle tissue.","id":"HP:0009051","name":"Increased muscle glycogen content","obsolete":false,"parents":["HP:0012269"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003485","HP:0009035"],"definition":"Reduced strength of the distal musculature of the legs.","id":"HP:0009053","name":"Distal lower limb muscle weakness","obsolete":false,"parents":["HP:0002460","HP:0007340"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Distal muscle weakness in lower limbs"},{"scope":"EXACT","text":"Muscle weakness, lower limb, distal"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009054","name":"Scapuloperoneal myopathy","obsolete":false,"parents":["HP:0001430","HP:0001465"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003788"],"definition":"Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations.","id":"HP:0009055","name":"Generalized limb muscle atrophy","obsolete":false,"parents":["HP:0003700"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised limb muscle atrophy"},{"scope":"EXACT","text":"Generalised muscle atrophy, proximal and distal"},{"scope":"EXACT","text":"Generalised muscle wasting"},{"scope":"EXACT","text":"Generalized muscle atrophy, proximal and distal"},{"scope":"EXACT","text":"Generalized muscle wasting"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009056","name":"Loss of subcutaneous adipose tissue from upper limbs","obsolete":false,"parents":["HP:0003635"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Loss of fat tissue below the skin from upper limbs"}]} +{"alt_ids":["HP:0100949"],"definition":"An abnormal accumulation of lipids in skeletal muscle.","id":"HP:0009058","name":"Increased muscle lipid content","obsolete":false,"parents":["HP:0034370"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fat accumulation in muscle fibers"},{"scope":"EXACT","text":"Fat accumulation in muscle fibres"},{"scope":"EXACT","text":"Fat deposits in muscle fibers"},{"scope":"EXACT","text":"Fat deposits in muscle fibres"},{"scope":"EXACT","text":"Increased muscle lipid content"},{"scope":"EXACT","text":"Lipid accumulation in skeletal muscle"},{"scope":"EXACT","text":"Muscle lipidosis"},{"scope":"EXACT","text":"Skeletal muscle lipid accumulation"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009059","name":"Congenital generalized lipodystrophy","obsolete":false,"parents":["HP:0009125"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital generalised lipodystrophy"}]} +{"alt_ids":[],"definition":"Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle.","id":"HP:0009060","name":"Scapular muscle atrophy","obsolete":false,"parents":["HP:0001465"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0009062","name":"obsolete Infantile axial hypotonia","obsolete":true,"parents":[],"replaced_by":["HP:0008936"],"synonyms":[]} +{"alt_ids":["HP:0008933","HP:0009022","HP:0009057"],"definition":"Progressively reduced strength of the distal musculature.","id":"HP:0009063","name":"Progressive distal muscle weakness","obsolete":false,"parents":["HP:0002460"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle weakness, distal, progressive"},{"scope":"EXACT","text":"Muscle weakness, progressive, distal"}]} +{"alt_ids":["HP:0008966"],"definition":"Generalized degenerative changes of the fat tissue.","id":"HP:0009064","name":"Generalized lipodystrophy","obsolete":false,"parents":["HP:0009125"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised lipodystrophy"},{"scope":"EXACT","text":"Lipodystrophy, generalised"},{"scope":"EXACT","text":"Lipodystrophy, generalized"}]} +{"alt_ids":[],"definition":"Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.","id":"HP:0009067","name":"Progressive spinal muscular atrophy","obsolete":false,"parents":["HP:0007269"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Progressive spinal muscle degeneration"},{"scope":"EXACT","text":"Progressive spinal muscle wasting"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009069","name":"Lethal infantile mitochondrial myopathy","obsolete":false,"parents":["HP:0003737"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Chronic muscle inflammation accompanied by muscle weakness.","id":"HP:0009071","name":"Inflammatory myopathy","obsolete":false,"parents":["HP:0003198"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed.","id":"HP:0009072","name":"Decreased Achilles reflex","obsolete":false,"parents":["HP:0002600"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyporeflexia at ankle joints"}]} +{"alt_ids":["HP:0008965"],"definition":"Lack of strength of the proximal muscles that becomes progressively more severe.","id":"HP:0009073","name":"Progressive proximal muscle weakness","obsolete":false,"parents":["HP:0003323","HP:0003701"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle weakness, progressive, proximal"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009077","name":"Weakness of long finger extensor muscles","obsolete":false,"parents":["HP:0030237"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0009084","name":"Midline notch of upper alveolar ridge","obsolete":false,"parents":["HP:0006477"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Midline cleft of maxillary alveolar process"},{"scope":"EXACT","text":"Midline cleft of upper alveolar ridge"},{"scope":"EXACT","text":"Midline notch of maxillary alveolar process"},{"scope":"EXACT","text":"Midline notch of maxillary alveolar ridge"},{"scope":"EXACT","text":"Midline notch of upper gum ridge"}]} +{"alt_ids":["HP:0009078","HP:0009083"],"definition":"Increased width of the alveolar ridges.","id":"HP:0009085","name":"Alveolar ridge overgrowth","obsolete":false,"parents":["HP:0006477"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Alveolar ridge excess"},{"scope":"EXACT","text":"Enlarged alveolar ridge"},{"scope":"EXACT","text":"Hyperplasia of alveolar process of jaw"},{"scope":"EXACT","text":"Hyperplasia of alveolar ridge"},{"scope":"RELATED","text":"Hypertrophied alveolar ridge"},{"scope":"EXACT","text":"Increased size of alveolar ridge"},{"scope":"BROAD","text":"Increased size of gum ridge"},{"scope":"EXACT","text":"Overgrowth of alveolar ridge"},{"scope":"EXACT","text":"Overgrowth of gum ridge"},{"scope":"EXACT","text":"Thick alveolar ridges"},{"scope":"EXACT","text":"Thickened alveolar ridges"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009087","name":"Posteriorly placed tongue","obsolete":false,"parents":["HP:0030809"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Posteriorly placed tongue"}]} +{"alt_ids":[],"definition":"Impairment in the physical production of speech sounds.","id":"HP:0009088","name":"Speech articulation difficulties","obsolete":false,"parents":["HP:0001608","HP:0002463"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0009090","name":"obsolete Facial diplegic appearance","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0009092","name":"Progressive alveolar ridge hypertrophy","obsolete":false,"parents":["HP:0006477"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Increasing overgrowth of gum ridge"},{"scope":"EXACT","text":"Increasing size of gum ridge"},{"scope":"EXACT","text":"Progressive hypertrophy of alveolar process of jaw"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009094","name":"Cleft lower alveolar ridge","obsolete":false,"parents":["HP:0006477"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Cleft of lower alveolar process"},{"scope":"NARROW","text":"Cleft of lower gingiva"},{"scope":"EXACT","text":"Cleft of lower gum ridge"},{"scope":"NARROW","text":"Cleft of mandibular alveolar process"},{"scope":"NARROW","text":"Cleft of mandibular gingiva"},{"scope":"NARROW","text":"Notch of lower alveolar process"},{"scope":"EXACT","text":"Notch of lower alveolar ridge"},{"scope":"EXACT","text":"Notch of lower gum ridge"},{"scope":"NARROW","text":"Notch of mandibular alveolar process"},{"scope":"EXACT","text":"Notch of mandibular alveolar ridge"}]} +{"alt_ids":[],"definition":"Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.","id":"HP:0009098","name":"Recurrent oral thrush","obsolete":false,"parents":["HP:0002728","HP:5210252"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic oral candidiasis"},{"scope":"EXACT","text":"Chronic oral thrush"},{"scope":"EXACT","text":"Persistent oral thrush"}]} +{"alt_ids":["HP:0008501","HP:0009089"],"definition":"Cleft palate of the midline of the palate.","id":"HP:0009099","name":"Median cleft palate","obsolete":false,"parents":["HP:0000175"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Central cleft palate"},{"scope":"EXACT","text":"Midline cleft palate"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009100","name":"Thick anterior alveolar ridges","obsolete":false,"parents":["HP:0009085"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thick anterior alveolar process of jaw"}]} +{"alt_ids":[],"definition":"A cleft of the lip with overlying mucous membrane.","id":"HP:0009101","name":"Submucous cleft lip","obsolete":false,"parents":["HP:5201010"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Submucous labial cleft"}]} +{"alt_ids":["HP:0200095"],"definition":"Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion.","id":"HP:0009102","name":"Anterior open-bite malocclusion","obsolete":false,"parents":["HP:0000689","HP:0010807"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"AOB"},{"scope":"EXACT","text":"Absence of overlap of anterior upper and lower teeth"},{"scope":"EXACT","text":"Anterior open bite"},{"scope":"EXACT","text":"Anterior open bite between upper and lower teeth"},{"scope":"EXACT","text":"Anterior openbite"},{"scope":"EXACT","text":"Apertognathia malocclusion"},{"scope":"EXACT","text":"Gap between upper and lower front teeth when biting"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009103","name":"Aplasia/Hypoplasia involving the pelvis","obsolete":false,"parents":["HP:0002644"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small pelvis"},{"scope":"EXACT","text":"Absent/underdeveloped pelvis"}]} +{"alt_ids":["HP:0008841"],"definition":"Absence or underdevelopment of the pubic bone.","id":"HP:0009104","name":"Aplasia/Hypoplasia of the pubic bone","obsolete":false,"parents":["HP:0003172","HP:0009103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small pubic bones"},{"scope":"EXACT","text":"Absent/underdeveloped pubic bones"},{"scope":"EXACT","text":"Hypoplastic/aplastic pubic bones"}]} +{"alt_ids":[],"definition":"Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis.","id":"HP:0009105","name":"Abnormal ossification of the pubic bone","obsolete":false,"parents":["HP:0003172","HP:0009106"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormal maturation of the pubic bone"}]} +{"alt_ids":[],"definition":"An abnormality of the formation and mineralization of any bone of the bony pelvis.","id":"HP:0009106","name":"Abnormal pelvis bone ossification","obsolete":false,"parents":["HP:0002644","HP:0003336"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormal maturation of the pelvis bone"},{"scope":"EXACT","text":"Abnormal ossification involving the bones of the pelvis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009107","name":"Abnormal ossification involving the femoral head and neck","obsolete":false,"parents":["HP:0003336","HP:0003366"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormal maturation of thigh bone head and neck"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009108","name":"Aplasia/Hypoplasia involving the femoral head and neck","obsolete":false,"parents":["HP:0003366","HP:0005613","HP:0009103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small head and neck of thighbone"},{"scope":"EXACT","text":"Absent/underdeveloped head and neck of thighbone"}]} +{"alt_ids":[],"definition":"Interruption of the innervation of the diaphragm.","id":"HP:0009109","name":"Denervation of the diaphragm","obsolete":false,"parents":["HP:0000775"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0009114"],"definition":"A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development.","id":"HP:0009110","name":"Diaphragmatic eventration","obsolete":false,"parents":["HP:0000775"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Eventration of the diaphragm"}]} +{"alt_ids":["HP:0040048"],"definition":"Congenital absence of the left half of the diaphragm.","id":"HP:0009112","name":"Aplasia of the left hemidiaphragm","obsolete":false,"parents":["HP:0000776","HP:0040046"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent left hemidiaphragm"},{"scope":"EXACT","text":"Left diaphragmatic hernia"}]} +{"alt_ids":["HP:0005953","HP:0009111"],"definition":"A decrease in the strength of the diaphragm.","id":"HP:0009113","name":"Diaphragmatic weakness","obsolete":false,"parents":["HP:0001324"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Diaphragmatic paraparesis"},{"scope":"RELATED","text":"Diminished diaphragmatic motion"},{"scope":"EXACT","text":"Weak diaphragm"}]} +{"alt_ids":[],"definition":"Absence (due to failure to form) or underdevelopment of one or more components of the skeleton.","id":"HP:0009115","name":"Aplasia/hypoplasia involving the skeleton","obsolete":false,"parents":["HP:0011842"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small skeleton"},{"scope":"EXACT","text":"Absent/underdeveloped skeleton"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009116","name":"Aplasia/Hypoplasia involving bones of the skull","obsolete":false,"parents":["HP:0000929","HP:0009122"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the maxilla.","id":"HP:0009117","name":"Aplasia/Hypoplasia of the maxilla","obsolete":false,"parents":["HP:0000326","HP:0009116"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Underdevelopment of maxilla"},{"scope":"EXACT","text":"Underdevelopment of upper jaw bones"}]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the mandible.","id":"HP:0009118","name":"Aplasia/Hypoplasia of the mandible","obsolete":false,"parents":["HP:0000277","HP:0009116"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence or underdevelopment of frontal sinus.","id":"HP:0009119","name":"Aplasia/Hypoplasia of the frontal sinuses","obsolete":false,"parents":["HP:0002687","HP:0009120"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormally small frontal sinus"}]} +{"alt_ids":[],"definition":"Absence or underdevelopment of a cranial sinus or sinuses.","id":"HP:0009120","name":"Aplasia/Hypoplasia involving the sinuses","obsolete":false,"parents":["HP:0000245","HP:0009116"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum.","id":"HP:0009121","name":"Abnormal axial skeleton morphology","obsolete":false,"parents":["HP:0011842"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormality of the axial skeleton"}]} +{"alt_ids":[],"definition":"Absence (due to failure to form) or underdevelopment of bones of the axial skeleton.","id":"HP:0009122","name":"Aplasia/hypoplasia affecting bones of the axial skeleton","obsolete":false,"parents":["HP:0009115","HP:0009121"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0009123","name":"Mixed hypo- and hyperpigmentation of the skin","obsolete":false,"parents":["HP:0000953","HP:0001010"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes.","id":"HP:0009124","name":"Abnormal adipose tissue 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+{"alt_ids":[],"definition":"A structural anomaly of the appendicular musculature, comprising muscles of the upper limb and pectoral girdle as well as muscles of the lower limb and pelvic girdle.","id":"HP:0009127","name":"Abnormal appendicular muscle morphology","obsolete":false,"parents":["HP:0011805","HP:0040064"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal limb muscles"},{"scope":"EXACT","text":"Muscle issues in the arms and/or legs"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009128","name":"Aplasia/Hypoplasia involving the musculature of the extremities","obsolete":false,"parents":["HP:0001460","HP:0009127"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small muscles of extremities"},{"scope":"EXACT","text":"Absent/underdeveloped muscles of extremities"}]} +{"alt_ids":["HP:0003471"],"definition":"Muscular atrophy involving the muscles of the upper limbs.","id":"HP:0009129","name":"Upper limb amyotrophy","obsolete":false,"parents":["HP:0001446","HP:0003202"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Amyotrophy involving the upper limbs"}]} +{"alt_ids":["HP:0006967","HP:0008934","HP:0008951","HP:0009038"],"definition":"Muscular atrophy involving the muscles of the hand.","id":"HP:0009130","name":"Hand muscle atrophy","obsolete":false,"parents":["HP:0001421","HP:0007149"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Amyotrophy involving the musculature of the hand"},{"scope":"EXACT","text":"Amyotrophy of hand muscles"},{"scope":"EXACT","text":"Hand muscle degeneration"},{"scope":"EXACT","text":"Hand muscle wasting"},{"scope":"EXACT","text":"Hand muscle wasting, bilateral"}]} +{"alt_ids":[],"definition":"A disease or lesion affecting the muscles of the thorax.","id":"HP:0009131","name":"Abnormality of the musculature of the thorax","obsolete":false,"parents":["HP:0040286"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone.","id":"HP:0009132","name":"Abnormal tarsal bone mineral density","obsolete":false,"parents":["HP:0001850","HP:0004348"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of bone mineral density involving tarsal bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009134","name":"Osteolysis involving bones of the feet","obsolete":false,"parents":["HP:0001760","HP:0009139"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0009136","name":"Duplication involving bones of the feet","obsolete":false,"parents":["HP:0001760","HP:0040069"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplication involving bones of the feet"}]} +{"alt_ids":[],"definition":"An abnormal union between bones or parts of bones lower limbs.","id":"HP:0009138","name":"Synostosis involving bones of the lower limbs","obsolete":false,"parents":["HP:0040069","HP:0100240","HP:0100491"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fusion involving the bones of the lower limbs"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009139","name":"Osteolysis involving bones of the lower limbs","obsolete":false,"parents":["HP:0002797","HP:0040069"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0009140","name":"Synostosis involving bones of the feet","obsolete":false,"parents":["HP:0001760","HP:0009138"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fusion involving the bones of the feet"}]} +{"alt_ids":["HP:0009070"],"definition":null,"id":"HP:0009141","name":"Depletion of mitochondrial DNA in muscle tissue","obsolete":false,"parents":["HP:0003800","HP:0030059"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Depletion of mitochondrial dna in skeletal muscle tissue"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009142","name":"Duplication of bones involving the upper extremities","obsolete":false,"parents":["HP:0002817"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplication of bones involving the upper extremities"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009144","name":"Supernumerary bones of the axial skeleton","obsolete":false,"parents":["HP:0009121"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery.","id":"HP:0009145","name":"Abnormal cerebral artery morphology","obsolete":false,"parents":["HP:0011004","HP:0100659"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of cerebral artery"},{"scope":"EXACT","text":"Abnormality of the cerebral arteries"}]} +{"alt_ids":[],"definition":"Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms.","id":"HP:0009147","name":"Enlarged epiphysis of the distal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009198","HP:0009385","HP:0010249"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of the outermost bone of little finger"},{"scope":"EXACT","text":"Enlarged end part of the outermost bone of pinkie finger"},{"scope":"EXACT","text":"Enlarged end part of the outermost bone of pinky finger"}]} +{"alt_ids":[],"definition":"Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms.","id":"HP:0009148","name":"Small epiphysis of the distal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009198","HP:0009390","HP:0010254"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of the outermost bone of little finger"},{"scope":"EXACT","text":"Small end part of the outermost bone of pinkie finger"},{"scope":"EXACT","text":"Small end part of the outermost bone of pinky finger"}]} +{"alt_ids":["HP:0009137"],"definition":"A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.","id":"HP:0009149","name":"Triangular epiphysis of the distal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009198","HP:0009392","HP:0010256"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delta-shaped epiphysis of the distal phalanx of the 5th finger"},{"scope":"EXACT","text":"Triangular end part of the outermost bone of little finger"},{"scope":"EXACT","text":"Triangular end part of the outermost bone of pinkie finger"},{"scope":"EXACT","text":"Triangular end part of the outermost bone of pinky finger"}]} +{"alt_ids":[],"definition":"Abnormality of the proximal phalanx of the little (5th) finger.","id":"HP:0009150","name":"Abnormality of the proximal phalanx of the 5th finger","obsolete":false,"parents":["HP:0004213"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the innermost bone little finger"},{"scope":"EXACT","text":"Abnormality of the innermost bone pinkie finger"},{"scope":"EXACT","text":"Abnormality of the innermost bone pinky finger"}]} +{"alt_ids":[],"definition":"Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger.","id":"HP:0009152","name":"Abnormality of the epiphyses of the 5th finger","obsolete":false,"parents":["HP:0004207","HP:0005920"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of end part of little finger bone"},{"scope":"EXACT","text":"Abnormality of end part of pinkie finger bone"},{"scope":"EXACT","text":"Abnormality of end part of pinky finger bone"}]} +{"alt_ids":[],"definition":"Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.","id":"HP:0009153","name":"Abnormality of the epiphysis of the proximal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009150","HP:0009152","HP:0010245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of end part of the innermost bone of little finger"},{"scope":"EXACT","text":"Abnormality of end part of the innermost bone of pinkie finger"},{"scope":"EXACT","text":"Abnormality of end part of the innermost bone of pinky finger"}]} +{"alt_ids":["HP:0009156"],"definition":"A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.","id":"HP:0009154","name":"Triangular epiphysis of the proximal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009153","HP:0009392","HP:0010278"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delta-shaped epiphysis of the proximal phalanx of the 5th finger"},{"scope":"EXACT","text":"Triangular end part of the innermost bone of little finger"},{"scope":"EXACT","text":"Triangular end part of the innermost bone of pinkie finger"},{"scope":"EXACT","text":"Triangular end part of the innermost bone of pinky finger"}]} +{"alt_ids":[],"definition":"A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.","id":"HP:0009155","name":"Cone-shaped epiphysis of the proximal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009153","HP:0009384","HP:0010270"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Angel-shaped epiphysis of the proximal phalanx of the 5th finger"},{"scope":"EXACT","text":"Cone-shaped end part of the innermost bone of little finger"},{"scope":"EXACT","text":"Cone-shaped end part of the innermost bone of pinkie finger"},{"scope":"EXACT","text":"Cone-shaped end part of the innermost bone of pinky finger"},{"scope":"RELATED","text":"Cone-shaped epiphysis of the proximal phalanx of the little finger"}]} +{"alt_ids":[],"definition":"Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.","id":"HP:0009157","name":"Ivory epiphysis of the proximal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009153","HP:0009388","HP:0010274"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the innermost bone of little finger"},{"scope":"EXACT","text":"Increased bone density of end part of the innermost bone of pinkie finger"},{"scope":"EXACT","text":"Increased bone density of end part of the innermost bone of pinky finger"},{"scope":"RELATED","text":"Ivory epiphysis of the proximal phalanx of the little finger"}]} +{"alt_ids":[],"definition":"Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms.","id":"HP:0009158","name":"Enlarged epiphysis of the proximal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009385"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of the innermost bone of little finger"},{"scope":"EXACT","text":"Enlarged end part of the innermost bone of pinkie finger"},{"scope":"EXACT","text":"Enlarged end part of the innermost bone of pinky finger"}]} +{"alt_ids":[],"definition":"Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms.","id":"HP:0009159","name":"Small epiphysis of the proximal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009153","HP:0009390","HP:0010276"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of the innermost bone of little finger"},{"scope":"EXACT","text":"Small end part of the innermost bone of pinkie finger"},{"scope":"EXACT","text":"Small end part of the innermost bone of pinky finger"}]} +{"alt_ids":[],"definition":"Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger.","id":"HP:0009160","name":"Absent epiphysis of the proximal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009153","HP:0009382","HP:0010268"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of the innermost bone of little finger"},{"scope":"EXACT","text":"Absent end part of the innermost bone of pinkie finger"},{"scope":"EXACT","text":"Absent end part of the innermost bone of pinky finger"}]} +{"alt_ids":["HP:0006242"],"definition":"Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger.","id":"HP:0009161","name":"Aplasia/Hypoplasia of the middle phalanx of the 5th finger","obsolete":false,"parents":["HP:0004219","HP:0009376"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/hypoplastic middle phalanx of 5th finger"},{"scope":"EXACT","text":"Absent/small middle bone of pinky finger"},{"scope":"EXACT","text":"Absent/underdeveloped middle bone of little finger"},{"scope":"EXACT","text":"Absent/underdeveloped middle bone of pinkie finger"},{"scope":"EXACT","text":"Absent/underdeveloped middle bone of pinky finger"}]} +{"alt_ids":["HP:0005774"],"definition":"Absence of the middle phalanx of the little (5th) finger.","id":"HP:0009162","name":"Absent middle phalanx of 5th finger","obsolete":false,"parents":["HP:0009161","HP:0009238","HP:0010239"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent middle bone of little finger"},{"scope":"EXACT","text":"Absent middle bone of pinkie finger"},{"scope":"EXACT","text":"Absent middle bone of pinky finger"},{"scope":"EXACT","text":"Aplasia of the middle phalanx of the 5th finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009163","name":"obsolete Abnormal form of the 5th finger","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006154"],"definition":null,"id":"HP:0009164","name":"Abnormal calcification of the carpal bones","obsolete":false,"parents":["HP:0006257","HP:0010766"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal calcification of the wrist bones"},{"scope":"EXACT","text":"Carpal calcifications"}]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger.","id":"HP:0009165","name":"Stippling of the epiphysis of the distal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009198","HP:0009391","HP:0010255"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in end part of the outermost bone of little finger"},{"scope":"EXACT","text":"Speckled calcifications in end part of the outermost bone of pinkie finger"},{"scope":"EXACT","text":"Speckled calcifications in end part of the outermost bone of pinky finger"}]} +{"alt_ids":[],"definition":"Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger.","id":"HP:0009166","name":"Fragmentation of the epiphysis of the distal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009198","HP:0009386","HP:0010250"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of end part of the outermost bone of little finger"},{"scope":"EXACT","text":"Fragmentation of end part of the outermost bone of pinkie finger"},{"scope":"EXACT","text":"Fragmentation of end part of the outermost bone of pinky finger"}]} +{"alt_ids":[],"definition":"Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger.","id":"HP:0009167","name":"Irregular epiphysis of the distal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009198","HP:0009387","HP:0010251"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of the outermost bone of little finger"},{"scope":"EXACT","text":"Irregular end part of the outermost bone of pinkie finger"},{"scope":"EXACT","text":"Irregular end part of the outermost bone of pinky finger"}]} +{"alt_ids":[],"definition":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected.","id":"HP:0009168","name":"Bullet-shaped middle phalanx of the 5th finger","obsolete":false,"parents":["HP:0004219","HP:0009375","HP:0009845"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped middle little finger bone"},{"scope":"EXACT","text":"Bullet-shaped middle pinkie finger bone"},{"scope":"EXACT","text":"Bullet-shaped middle pinky finger bone"}]} +{"alt_ids":[],"definition":"Increased width of the middle phalanx of the 5th finger.","id":"HP:0009169","name":"Broad middle phalanx of the 5th finger","obsolete":false,"parents":["HP:0004219","HP:0009374","HP:0009844"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad middle bone of little finger"},{"scope":"EXACT","text":"Broad middle bone of pinkie finger"},{"scope":"EXACT","text":"Broad middle bone of pinky finger"},{"scope":"EXACT","text":"Wide middle phalanx of the 5th finger"}]} +{"alt_ids":[],"definition":"Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger.","id":"HP:0009170","name":"Osteolytic defects of the middle phalanx of the 5th finger","obsolete":false,"parents":["HP:0004216","HP:0004219","HP:0009847"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A triangular appearance of the epiphyses of the metacarpals. These epiphyses are located at the distal end of the metacarpals.","id":"HP:0009171","name":"Triangular epiphyses of the metacarpals","obsolete":false,"parents":["HP:0005913","HP:0010587"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular end part of the long bone of hand"}]} +{"alt_ids":["HP:0004191"],"definition":"Abnormality of the phalanges of the 4th (ring) finger.","id":"HP:0009172","name":"Abnormal 4th finger phalanx morphology","obsolete":false,"parents":["HP:0004188","HP:0005918"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal bones of 4th finger"},{"scope":"EXACT","text":"Abnormality of the phalanges of the ring finger"}]} +{"alt_ids":[],"definition":"Curved appearance of the middle phalanx of the 5th finger.","id":"HP:0009173","name":"Curved middle phalanx of the 5th finger","obsolete":false,"parents":["HP:0004214","HP:0004219","HP:0009846"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved middle bone of little finger"},{"scope":"EXACT","text":"Curved middle bone of pinkie finger"},{"scope":"EXACT","text":"Curved middle bone of pinky finger"}]} +{"alt_ids":[],"definition":"Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger.","id":"HP:0009174","name":"Abnormality of the epiphyses of the 4th finger","obsolete":false,"parents":["HP:0004188","HP:0005920"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the ring finger"}]} +{"alt_ids":[],"definition":"Patchy increase in bone density of the middle phalanx of the 5th finger.","id":"HP:0009175","name":"Patchy sclerosis of the middle phalanx of the 5th finger","obsolete":false,"parents":["HP:0004219","HP:0009377","HP:0009848","HP:0100907"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uneven increase in bone density in the middle bone of the little finger"},{"scope":"EXACT","text":"Uneven increase in bone density in the middle bone of the pinkie finger"},{"scope":"EXACT","text":"Uneven increase in bone density in the middle bone of the pinky finger"}]} +{"alt_ids":["HP:0005835","HP:0006025","HP:0009232","HP:0009235"],"definition":"Fusion of the proximal and middle phalanges of the 5th finger.","id":"HP:0009177","name":"Proximal fifth finger symphalangism","obsolete":false,"parents":["HP:0004218","HP:0006152"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused innermost and middle bones of little finger"},{"scope":"EXACT","text":"Fused innermost and middle bones of pinkie finger"},{"scope":"EXACT","text":"Fused innermost and middle bones of pinky finger"},{"scope":"EXACT","text":"Proximal 5th finger symphalangism"},{"scope":"EXACT","text":"Symphalangism of the proximal and middle phalanges of the 5th finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009178","name":"obsolete Symphalangism of middle phalanx of 5th finger","obsolete":true,"parents":[],"replaced_by":["HP:0004218"],"synonyms":[]} +{"alt_ids":["HP:0006036"],"definition":"Displacement of the 5th finger from its normal position.","id":"HP:0009179","name":"Deviation of the 5th finger","obsolete":false,"parents":["HP:0004097","HP:0004207"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Displaced little finger"},{"scope":"EXACT","text":"Displaced pinkie finger"},{"scope":"EXACT","text":"Displaced pinky finger"},{"scope":"EXACT","text":"Laterally displaced fifth finger"}]} +{"alt_ids":[],"definition":"Displacement of the 5th finger towards the ulnar side.","id":"HP:0009180","name":"Ulnar deviation of the 5th finger","obsolete":false,"parents":["HP:0009179","HP:0009465"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.","id":"HP:0009182","name":"Triangular shaped middle phalanx of the 5th finger","obsolete":false,"parents":["HP:0004219","HP:0009378","HP:0009850"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped middle little finger bone"},{"scope":"EXACT","text":"Triangular shaped middle pinkie finger bone"},{"scope":"EXACT","text":"Triangular shaped middle pinky finger bone"}]} +{"alt_ids":["HP:0001184"],"definition":"Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected.","id":"HP:0009183","name":"Joint contracture of the 5th finger","obsolete":false,"parents":["HP:0004207","HP:0012785"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"5th finger camptodactyly"},{"scope":"RELATED","text":"Fifth finger camptodactyly"}]} +{"alt_ids":[],"definition":"Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue.","id":"HP:0009184","name":"Contracture of the distal interphalangeal joint of the 5th finger","obsolete":false,"parents":["HP:0009183","HP:0009697"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005047","HP:0006062"],"definition":"Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.","id":"HP:0009185","name":"Contracture of the proximal interphalangeal joint of the 5th finger","obsolete":false,"parents":["HP:0009183","HP:0100490"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Camptodactyly of 5th finger"},{"scope":"EXACT","text":"Camptodactyly of the fifth finger"}]} +{"alt_ids":[],"definition":"Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue.","id":"HP:0009186","name":"Contracture of the metacarpophalangeal joint of the 5th finger","obsolete":false,"parents":["HP:0009183"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the distal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.","id":"HP:0009187","name":"Bracket epiphysis of the distal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009198","HP:0009383","HP:0010247"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of the outermost little finger bone"},{"scope":"EXACT","text":"Bracket shaped end part of the outermost pinkie finger bone"},{"scope":"EXACT","text":"Bracket shaped end part of the outermost pinky finger bone"}]} +{"alt_ids":[],"definition":"A secondary ossification center in the distal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.","id":"HP:0009188","name":"Pseudoepiphysis of the distal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009198","HP:0009389","HP:0010253"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fragmented appearance of the epiphyses of the metacarpals.","id":"HP:0009189","name":"Fragmented metacarpal epiphysis","obsolete":false,"parents":["HP:0003841","HP:0005913"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of end part of the long bone of hand"},{"scope":"EXACT","text":"Fragmentation of the metacarpal epiphyses"}]} +{"alt_ids":[],"definition":"Irregular radiographic opacity of the epiphyses of the metacarpals.","id":"HP:0009190","name":"Irregular epiphyses of the metacarpals","obsolete":false,"parents":["HP:0003842","HP:0005913"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of the long bone of hand"}]} +{"alt_ids":[],"definition":"Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.","id":"HP:0009191","name":"Ivory epiphyses of the metacarpals","obsolete":false,"parents":["HP:0005913","HP:0010583","HP:0011001"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the long bone of hands"}]} +{"alt_ids":[],"definition":"Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger.","id":"HP:0009192","name":"Aplasia/Hypoplasia of the proximal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009150","HP:0009376"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small innermost little finger bone"},{"scope":"EXACT","text":"Absent/small innermost pinkie finger bone"},{"scope":"EXACT","text":"Absent/small innermost pinky finger bone"},{"scope":"EXACT","text":"Absent/underdeveloped innermost pinky finger bone"}]} +{"alt_ids":["HP:0006091","HP:0006164"],"definition":"A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone.","id":"HP:0009193","name":"Metacarpal pseudoepiphysis","obsolete":false,"parents":["HP:0004288","HP:0005913"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Accessory proximal metacarpal ossification centers"},{"scope":"EXACT","text":"Accessory proximal metacarpal ossification centres"},{"scope":"EXACT","text":"Metacarpal pseudoepiphyses"},{"scope":"EXACT","text":"Pseudoepiphyses of the metacarpals"}]} +{"alt_ids":[],"definition":"Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms.","id":"HP:0009194","name":"Small epiphyses of the metacarpals","obsolete":false,"parents":["HP:0005913","HP:0010585"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of the long bone of hand"}]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals.","id":"HP:0009195","name":"Epiphyseal stippling of the metacarpals","obsolete":false,"parents":["HP:0005913","HP:0010655","HP:0010660"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in end part of the long bone of hand"},{"scope":"EXACT","text":"Stippling of the epiphyses of the metacarpals"}]} +{"alt_ids":["HP:0006013"],"definition":"Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals.","id":"HP:0009196","name":"Absent metacarpal epiphyses","obsolete":false,"parents":["HP:0005913","HP:0010577"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of the long bone of hand"},{"scope":"EXACT","text":"Absent metacarpal ossification center"},{"scope":"EXACT","text":"Absent metacarpal ossification centre"}]} +{"alt_ids":[],"definition":"An abnormality of the proximal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.","id":"HP:0009197","name":"Bracket epiphysis of the proximal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009153","HP:0009383","HP:0010269"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of the innermost bone of the little finger"},{"scope":"EXACT","text":"Bracket shaped end part of the innermost bone of the pinkie finger"},{"scope":"EXACT","text":"Bracket shaped end part of the innermost bone of the pinky finger"}]} +{"alt_ids":["HP:0004228"],"definition":"Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.","id":"HP:0009198","name":"Abnormality of the epiphysis of the distal phalanx of the 5th finger","obsolete":false,"parents":["HP:0004225","HP:0009152","HP:0010243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of end part of the outermost bone of the little finger"},{"scope":"EXACT","text":"Abnormality of end part of the outermost bone of the pinkie finger"},{"scope":"EXACT","text":"Abnormality of end part of the outermost bone of the pinky finger"},{"scope":"EXACT","text":"Abnormality of the epiphysis of the terminal phalanx of the little finger"}]} +{"alt_ids":[],"definition":"Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger.","id":"HP:0009199","name":"Irregular epiphysis of the proximal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009153","HP:0009387","HP:0010273"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of the innermost little finger bone"},{"scope":"EXACT","text":"Irregular end part of the innermost pinkie finger bone"},{"scope":"EXACT","text":"Irregular end part of the innermost pinky finger bone"}]} +{"alt_ids":[],"definition":"A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.","id":"HP:0009200","name":"Pseudoepiphysis of the proximal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009153","HP:0009389","HP:0010275"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger.","id":"HP:0009201","name":"Stippling of the epiphysis of the proximal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009153","HP:0009391","HP:0010277"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in end part of the innnermost bone of the little finger"},{"scope":"EXACT","text":"Speckled calcifications in end part of the innnermost bone of the pinkie finger"},{"scope":"EXACT","text":"Speckled calcifications in end part of the innnermost bone of the pinky finger"}]} +{"alt_ids":[],"definition":"Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger.","id":"HP:0009202","name":"Fragmentation of the epiphysis of the proximal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009153","HP:0009386","HP:0010272"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of end part of the innermost bone of the little finger"},{"scope":"EXACT","text":"Fragmentation of end part of the innermost bone of the pinkie finger"},{"scope":"EXACT","text":"Fragmentation of end part of the innermost bone of the pinky finger"}]} +{"alt_ids":[],"definition":"Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger.","id":"HP:0009203","name":"Absent epiphysis of the middle phalanx of the 5th finger","obsolete":false,"parents":["HP:0004224","HP:0009382","HP:0010257"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of the middle bone of the little finger"},{"scope":"EXACT","text":"Absent end part of the middle bone of the pinkie finger"},{"scope":"EXACT","text":"Absent end part of the middle bone of the pinky finger"}]} +{"alt_ids":[],"definition":"An abnormality of the middle phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.","id":"HP:0009204","name":"Bracket epiphysis of the middle phalanx of the 5th finger","obsolete":false,"parents":["HP:0004224","HP:0009383","HP:0010258"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of the middle bone of the little finger"},{"scope":"EXACT","text":"Bracket shaped end part of the middle bone of the pinkie finger"},{"scope":"EXACT","text":"Bracket shaped end part of the middle bone of the pinky finger"}]} +{"alt_ids":[],"definition":"A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.","id":"HP:0009205","name":"Cone-shaped epiphysis of the middle phalanx of the 5th finger","obsolete":false,"parents":["HP:0004224","HP:0009384","HP:0010259"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of the middle bone of the little finger"},{"scope":"EXACT","text":"Cone-shaped end part of the middle bone of the pinkie finger"},{"scope":"EXACT","text":"Cone-shaped end part of the middle bone of the pinky finger"}]} +{"alt_ids":[],"definition":"Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms.","id":"HP:0009206","name":"Enlarged epiphysis of the middle phalanx of the 5th finger","obsolete":false,"parents":["HP:0004224","HP:0009385","HP:0010260"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of the middle bone of the little finger"},{"scope":"EXACT","text":"Enlarged end part of the middle bone of the pinkie finger"},{"scope":"EXACT","text":"Enlarged end part of the middle bone of the pinky finger"}]} +{"alt_ids":[],"definition":"Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger.","id":"HP:0009207","name":"Fragmentation of the epiphysis of the middle phalanx of the 5th finger","obsolete":false,"parents":["HP:0004224","HP:0009386","HP:0010261"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of end part of the middle bone of the little finger"},{"scope":"EXACT","text":"Fragmentation of end part of the middle bone of the pinkie finger"},{"scope":"EXACT","text":"Fragmentation of end part of the middle bone of the pinky finger"}]} +{"alt_ids":[],"definition":"Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger.","id":"HP:0009208","name":"Irregular epiphysis of the middle phalanx of the 5th finger","obsolete":false,"parents":["HP:0004224","HP:0009387","HP:0010262"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of the middle bone of the little finger"},{"scope":"EXACT","text":"Irregular end part of the middle bone of the pinkie finger"},{"scope":"EXACT","text":"Irregular end part of the middle bone of the pinky finger"}]} +{"alt_ids":[],"definition":"Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.","id":"HP:0009209","name":"Ivory epiphysis of the middle phalanx of the 5th finger","obsolete":false,"parents":["HP:0004224","HP:0009388","HP:0010263"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the middle bone of little finger"},{"scope":"EXACT","text":"Increased bone density of end part of the middle bone of pinkie finger"},{"scope":"EXACT","text":"Increased bone density of end part of the middle bone of pinky finger"}]} +{"alt_ids":[],"definition":"A secondary ossification center in the middle phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.","id":"HP:0009210","name":"Pseudoepiphysis of the middle phalanx of the 5th finger","obsolete":false,"parents":["HP:0004224","HP:0009389","HP:0010264"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms.","id":"HP:0009211","name":"Small epiphysis of the middle phalanx of the 5th finger","obsolete":false,"parents":["HP:0004224","HP:0009390","HP:0010265"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of the middle bone of the little finger"},{"scope":"EXACT","text":"Small end part of the middle bone of the pinkie finger"},{"scope":"EXACT","text":"Small end part of the middle bone of the pinky finger"}]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger.","id":"HP:0009212","name":"Stippling of the epiphysis of the middle phalanx of the 5th finger","obsolete":false,"parents":["HP:0004224","HP:0009391","HP:0010266"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in end part of the middle bone of the little finger"},{"scope":"EXACT","text":"Speckled calcifications in end part of the middle bone of the pinkie finger"},{"scope":"EXACT","text":"Speckled calcifications in end part of the middle bone of the pinky finger"}]} +{"alt_ids":[],"definition":"A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.","id":"HP:0009213","name":"Triangular epiphysis of the middle phalanx of the 5th finger","obsolete":false,"parents":["HP:0004224","HP:0009392","HP:0010267"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delta-shaped epiphysis of the middle phalanx of the 5th finger"},{"scope":"EXACT","text":"Triangular end part of the middle bone of the little finger"},{"scope":"EXACT","text":"Triangular end part of the middle bone of the pinkie finger"},{"scope":"EXACT","text":"Triangular end part of the middle bone of the pinky finger"}]} +{"alt_ids":[],"definition":"Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger.","id":"HP:0009214","name":"Absent epiphysis of the middle phalanx of the 4th finger","obsolete":false,"parents":["HP:0009247","HP:0009393","HP:0010257"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of the middle bone of the ring finger"}]} +{"alt_ids":[],"definition":"An abnormality of the middle phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.","id":"HP:0009215","name":"Bracket epiphysis of the middle phalanx of the 4th finger","obsolete":false,"parents":["HP:0009247","HP:0009394","HP:0010258"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of the middle bone of the ring finger"}]} +{"alt_ids":[],"definition":"A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.","id":"HP:0009216","name":"Cone-shaped epiphysis of the middle phalanx of the 4th finger","obsolete":false,"parents":["HP:0009247","HP:0009395","HP:0010259"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of the middle bone of the ring finger"}]} +{"alt_ids":[],"definition":"Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms.","id":"HP:0009217","name":"Enlarged epiphysis of the middle phalanx of the 4th finger","obsolete":false,"parents":["HP:0009247","HP:0009396","HP:0010260"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of the middle bone of the ring finger"}]} +{"alt_ids":[],"definition":"Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger.","id":"HP:0009218","name":"Fragmentation of the epiphysis of the middle phalanx of the 4th finger","obsolete":false,"parents":["HP:0009247","HP:0009397","HP:0010261"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of end part of the middle bone of the ring finger"}]} +{"alt_ids":[],"definition":"Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger.","id":"HP:0009219","name":"Irregular epiphysis of the middle phalanx of the 4th finger","obsolete":false,"parents":["HP:0009247","HP:0009398","HP:0010262"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of the middle bone of the ring finger"}]} +{"alt_ids":[],"definition":"Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.","id":"HP:0009220","name":"Ivory epiphysis of the middle phalanx of the 4th finger","obsolete":false,"parents":["HP:0009247","HP:0009399","HP:0010263"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the middle ring finger bone"}]} +{"alt_ids":[],"definition":"A secondary ossification center in the middle phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.","id":"HP:0009221","name":"Pseudoepiphysis of the middle phalanx of the 4th finger","obsolete":false,"parents":["HP:0009247","HP:0009400","HP:0010264"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms.","id":"HP:0009222","name":"Small epiphysis of the middle phalanx of the 4th finger","obsolete":false,"parents":["HP:0009247","HP:0009401","HP:0010265"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of the middle bone of the ring finger"}]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger.","id":"HP:0009223","name":"Stippling of the epiphysis of the middle phalanx of the 4th finger","obsolete":false,"parents":["HP:0009247","HP:0009402","HP:0010266"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in end part of the middle bone of the ring finger"}]} +{"alt_ids":[],"definition":"A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.","id":"HP:0009224","name":"Triangular epiphysis of the middle phalanx of the 4th finger","obsolete":false,"parents":["HP:0009247","HP:0009403","HP:0010267"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delta-shaped epiphysis of the middle phalanx of the 4th finger"},{"scope":"EXACT","text":"Triangular end part of the middle bone of the ring finger"}]} +{"alt_ids":[],"definition":"Absence of the proximal phalanx of the little (5th) finger.","id":"HP:0009225","name":"Aplasia of the proximal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009192","HP:0009238","HP:0010242"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent innermost bone of little finger"},{"scope":"EXACT","text":"Absent innermost bone of pinkie finger"},{"scope":"EXACT","text":"Absent innermost bone of pinky finger"}]} +{"alt_ids":[],"definition":"Hypoplastic/small proximal phalanx of the fifth finger.","id":"HP:0009226","name":"Short proximal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009192","HP:0009237","HP:0010241"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic/small proximal phalanx of the 5th finger"},{"scope":"EXACT","text":"Short innermost little finger bone"},{"scope":"EXACT","text":"Short innermost pinkie finger bone"},{"scope":"EXACT","text":"Short innermost pinky finger bone"},{"scope":"EXACT","text":"Short proximal phalanx of the fifth finger"}]} +{"alt_ids":[],"definition":"Increased width of the proximal phalanx of the 5th finger.","id":"HP:0009227","name":"Broad proximal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009150","HP:0009374","HP:0009852"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad innermost little finger bone"},{"scope":"EXACT","text":"Broad innermost pinkie finger bone"},{"scope":"EXACT","text":"Broad innermost pinky finger bone"},{"scope":"EXACT","text":"Wide proximal phalanx of the 5th finger"}]} +{"alt_ids":[],"definition":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected.","id":"HP:0009228","name":"Bullet-shaped proximal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009150","HP:0009375","HP:0009853"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped innermost little finger bone"},{"scope":"EXACT","text":"Bullet-shaped innermost pinkie finger bone"},{"scope":"EXACT","text":"Bullet-shaped innermost pinky finger bone"}]} +{"alt_ids":[],"definition":"Curved appearance of the proximal phalanx of the 5th finger.","id":"HP:0009229","name":"Curved proximal phalanx of the 5th finger","obsolete":false,"parents":["HP:0004214","HP:0009150","HP:0009854"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved innermost bone of little finger"},{"scope":"EXACT","text":"Curved innermost bone of pinkie finger"},{"scope":"EXACT","text":"Curved innermost bone of pinky finger"}]} +{"alt_ids":[],"definition":"Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger.","id":"HP:0009230","name":"Osteolytic defects of the proximal phalanx of the 5th finger","obsolete":false,"parents":["HP:0004216","HP:0009150","HP:0009855"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Patchy increase in bone density of the proximal phalanx of the 5th finger.","id":"HP:0009231","name":"Patchy sclerosis of the proximal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009150","HP:0009377","HP:0009856","HP:0100911"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uneven increase in bone density in the innermost bone of little finger"},{"scope":"EXACT","text":"Uneven increase in bone density in the innermost bone of pinkie finger"},{"scope":"EXACT","text":"Uneven increase in bone density in the innermost bone of pinky finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009232","name":"obsolete Symphalangism affecting the proximal phalanx of the 5th finger","obsolete":true,"parents":[],"replaced_by":["HP:0009177"],"synonyms":[]} +{"alt_ids":[],"definition":"Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.","id":"HP:0009233","name":"Triangular shaped proximal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009150","HP:0009378","HP:0009858"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped innermost little finger bone"},{"scope":"EXACT","text":"Triangular shaped innermost pinkie finger bone"},{"scope":"EXACT","text":"Triangular shaped innermost pinky finger bone"}]} +{"alt_ids":[],"definition":"Congenital fusion of the fifth metacarpal bone with the proximal phalanx of the fifth finger.","id":"HP:0009234","name":"Fifth ray metacarpophalangeal synostosis","obsolete":false,"parents":["HP:0005880","HP:0009708"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused innermost bone of little finger with 5th long bone of hand"},{"scope":"EXACT","text":"Fused innermost bone of pinkie finger with 5th long bone of hand"},{"scope":"EXACT","text":"Fused innermost bone of pinky finger with 5th long bone of hand"}]} +{"alt_ids":[],"definition":"Rhomboid or triangular shaped 5th (little) finger proximal phalanx.","id":"HP:0009236","name":"Rhomboid or triangular shaped 5th finger proximal phalanx","obsolete":false,"parents":["HP:0009233"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rhomboid or triangular shaped innermost bone of little finger"},{"scope":"EXACT","text":"Rhomboid or triangular shaped innermost bone of pinkie finger"},{"scope":"EXACT","text":"Rhomboid or triangular shaped innermost bone of pinky finger"}]} +{"alt_ids":["HP:0001205","HP:0004208","HP:0004210","HP:0004211","HP:0004215","HP:0004217","HP:0005804","HP:0005888"],"definition":"Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.","id":"HP:0009237","name":"Short 5th finger","obsolete":false,"parents":["HP:0006262","HP:0009381"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fifth finger brachydactyly"},{"scope":"EXACT","text":"Hypoplastic phalanges of the little finger"},{"scope":"EXACT","text":"Hypoplastic/small 5th finger"},{"scope":"EXACT","text":"Hypoplastic/small little finger"},{"scope":"EXACT","text":"Short 5th finger"},{"scope":"EXACT","text":"Short fifth finger"},{"scope":"EXACT","text":"Short fifth fingers"},{"scope":"EXACT","text":"Short little finger"},{"scope":"EXACT","text":"Short phalanges of the little finger"},{"scope":"EXACT","text":"Short pinkie finger"},{"scope":"EXACT","text":"Short pinky finger"}]} +{"alt_ids":[],"definition":"Absent 5th (little) finger.","id":"HP:0009238","name":"Aplasia of the 5th finger","obsolete":false,"parents":["HP:0006262","HP:0009380"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent little finger"},{"scope":"EXACT","text":"Absent pinkie finger"},{"scope":"EXACT","text":"Absent pinky finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009239","name":"Aplasia/Hypoplasia of the distal phalanx of the 5th finger","obsolete":false,"parents":["HP:0004225","HP:0009376"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small outermost bone of little finger"},{"scope":"EXACT","text":"Absent/small outermost bone of pinkie finger"},{"scope":"EXACT","text":"Absent/small outermost bone of pinky finger"},{"scope":"EXACT","text":"Absent/underdeveloped outermost bone of pinky finger"}]} +{"alt_ids":[],"definition":"Increased width of the distal phalanx of the 5th finger.","id":"HP:0009240","name":"Broad distal phalanx of the 5th finger","obsolete":false,"parents":["HP:0004225","HP:0009374","HP:0009836"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad outermost little finger bone"},{"scope":"EXACT","text":"Broad outermost pinkie finger bone"},{"scope":"EXACT","text":"Broad outermost pinky finger bone"},{"scope":"EXACT","text":"Wide outermost pinky finger bone"}]} +{"alt_ids":[],"definition":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected.","id":"HP:0009241","name":"Bullet-shaped distal phalanx of the 5th finger","obsolete":false,"parents":["HP:0004225","HP:0009375","HP:0009837"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped outermost little finger bone"},{"scope":"EXACT","text":"Bullet-shaped outermost pinkie finger bone"},{"scope":"EXACT","text":"Bullet-shaped outermost pinky finger bone"}]} +{"alt_ids":[],"definition":"Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger.","id":"HP:0009242","name":"Osteolytic defects of the distal phalanx of the 5th finger","obsolete":false,"parents":["HP:0004216","HP:0004225","HP:0009839"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Patchy increase in bone density of the distal phalanx of the 5th finger.","id":"HP:0009243","name":"Patchy sclerosis of the distal phalanx of the 5th finger","obsolete":false,"parents":["HP:0004225","HP:0009377","HP:0009840","HP:0100903"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uneven increase in bone density in the outermost bone of little finger"},{"scope":"EXACT","text":"Uneven increase in bone density in the outermost bone of pinkie finger"},{"scope":"EXACT","text":"Uneven increase in bone density in the outermost bone of pinky finger"}]} +{"alt_ids":["HP:0006250","HP:0009176"],"definition":"Fusion of the terminal/distal and middle phalanges of the 5th finger.","id":"HP:0009244","name":"Distal fifth finger symphalangism","obsolete":false,"parents":["HP:0001204","HP:0004218","HP:0004225"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fifth finger distal interphalangeal joint symphalangism"},{"scope":"EXACT","text":"Fused end and middle bones of little finger"},{"scope":"EXACT","text":"Fused end and middle bones of pinkie finger"},{"scope":"EXACT","text":"Fused end and middle bones of pinky finger"},{"scope":"RELATED","text":"Fusion of the terminal and middle phalanges of the 5th finger"},{"scope":"EXACT","text":"Symphalangism of the distal and middle phalanges of the 5th finger"},{"scope":"EXACT","text":"Symphalangism of the terminal and middle phalanges of the 5th finger"}]} +{"alt_ids":[],"definition":"Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.","id":"HP:0009245","name":"Triangular shaped distal phalanx of the 5th finger","obsolete":false,"parents":["HP:0004225","HP:0009378","HP:0009875"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped outermost little finger bone"},{"scope":"EXACT","text":"Triangular shaped outermost pinkie finger bone"},{"scope":"EXACT","text":"Triangular shaped outermost pinky finger bone"}]} +{"alt_ids":[],"definition":"Absence of the distal phalanx of the little (5th) finger.","id":"HP:0009246","name":"Aplasia of the distal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009238","HP:0009239","HP:0009881"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent outermost little finger bone"},{"scope":"EXACT","text":"Absent outermost pinkie finger bone"},{"scope":"EXACT","text":"Absent outermost pinky finger bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009247","name":"Abnormality of the epiphysis of the middle phalanx of the 4th finger","obsolete":false,"parents":["HP:0009174","HP:0009283","HP:0010244"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the middle bone of the ring finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009248","name":"Abnormality of the epiphysis of the proximal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009174","HP:0009284","HP:0010245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the innermost bone of the ring finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009249","name":"Abnormality of the epiphysis of the distal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009174","HP:0009282","HP:0010243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the outermost bone of the ring finger"}]} +{"alt_ids":[],"definition":"Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger.","id":"HP:0009250","name":"Absent epiphysis of the distal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009249","HP:0009393","HP:0010246"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of the outermost bone of the ring finger"}]} +{"alt_ids":[],"definition":"An abnormality of the distal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.","id":"HP:0009251","name":"Bracket epiphysis of the distal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009249","HP:0009394","HP:0010247"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of the outermost bone of the ring finger"}]} +{"alt_ids":[],"definition":"A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.","id":"HP:0009252","name":"Cone-shaped epiphysis of the distal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009249","HP:0009395","HP:0010248"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of the outermost bone of the ring finger"}]} +{"alt_ids":[],"definition":"Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms.","id":"HP:0009253","name":"Enlarged epiphysis of the distal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009249","HP:0009396","HP:0010249"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of the outermost bone of the ring finger"}]} +{"alt_ids":[],"definition":"Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger.","id":"HP:0009254","name":"Fragmentation of the epiphysis of the distal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009249","HP:0009397","HP:0010250"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of end part of the outermost bone of the ring finger"}]} +{"alt_ids":[],"definition":"Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger.","id":"HP:0009255","name":"Irregular epiphysis of the distal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009249","HP:0009398","HP:0010251"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of the outermost bone of the ring finger"}]} +{"alt_ids":[],"definition":"Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.","id":"HP:0009256","name":"Ivory epiphysis of the distal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009249","HP:0009399","HP:0010252"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the outermost ring finger bone"}]} +{"alt_ids":[],"definition":"A secondary ossification center in the distal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.","id":"HP:0009257","name":"Pseudoepiphysis of the distal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009249","HP:0009400","HP:0010253"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms.","id":"HP:0009258","name":"Small epiphysis of the distal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009249","HP:0009401","HP:0010254"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of the outermost bone of the ring finger"}]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger.","id":"HP:0009259","name":"Stippling of the epiphysis of the distal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009249","HP:0009402","HP:0010255"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in the end part of the outermost bone of the ring finger"}]} +{"alt_ids":[],"definition":"A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.","id":"HP:0009260","name":"Triangular epiphysis of the distal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009249","HP:0009403","HP:0010256"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delta-shaped epiphysis of the distal phalanx of the 4th finger"},{"scope":"EXACT","text":"Triangular end part of the outermost bone of ring finger"}]} +{"alt_ids":[],"definition":"Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger.","id":"HP:0009261","name":"Absent epiphysis of the proximal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009248","HP:0009393","HP:0010268"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of the innermost bone of the ring finger"}]} +{"alt_ids":["HP:0004200"],"definition":"An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.","id":"HP:0009262","name":"Bracket epiphysis of the proximal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009248","HP:0009394","HP:0010269"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket proximal epiphysis of the ring finger"},{"scope":"EXACT","text":"Bracket shaped end part of the innermost bone of the ring finger"}]} +{"alt_ids":[],"definition":"A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.","id":"HP:0009263","name":"Cone-shaped epiphysis of the proximal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009248","HP:0009395","HP:0010270"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of the innermost bone of the ring finger"}]} +{"alt_ids":[],"definition":"Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms.","id":"HP:0009264","name":"Enlarged epiphysis of the proximal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009248","HP:0009396","HP:0010271"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of the innermost bone of the ring finger"}]} +{"alt_ids":[],"definition":"Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger.","id":"HP:0009265","name":"Fragmentation of the epiphysis of the proximal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009248","HP:0009397","HP:0010272"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of end part of the innermost bone of the ring finger"}]} +{"alt_ids":[],"definition":"Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger.","id":"HP:0009266","name":"Irregular epiphysis of the proximal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009248","HP:0009398","HP:0010273"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of the innermost bone of the ring finger"}]} +{"alt_ids":[],"definition":"Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.","id":"HP:0009267","name":"Ivory epiphysis of the proximal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009248","HP:0009399","HP:0010274"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the innermost ring finger bone"}]} +{"alt_ids":[],"definition":"A secondary ossification center in the proximal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.","id":"HP:0009268","name":"Pseudoepiphysis of the proximal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009248","HP:0009400","HP:0010275"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms.","id":"HP:0009269","name":"Small epiphysis of the proximal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009248","HP:0009401","HP:0010276"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of the innermost bone of the ring finger"}]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger.","id":"HP:0009270","name":"Stippling of the epiphysis of the proximal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009248","HP:0009402","HP:0010277"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in end part of the innermost bone of ring finger"}]} +{"alt_ids":[],"definition":"A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.","id":"HP:0009271","name":"Triangular epiphysis of the proximal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009248","HP:0009403","HP:0010278"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delta-shaped epiphysis of the proximal phalanx of the 4th finger"},{"scope":"EXACT","text":"Triangular end part of the innermost bone of ring finger"}]} +{"alt_ids":[],"definition":"A small/hypoplastic or absent/aplastic 4th (ring) finger.","id":"HP:0009272","name":"Aplasia/Hypoplasia of the 4th finger","obsolete":false,"parents":["HP:0004188","HP:0006265"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small ring finger bone"},{"scope":"EXACT","text":"Absent/underdeveloped ring finger bone"}]} +{"alt_ids":[],"definition":"Displacement of the 4th finger from its normal position.","id":"HP:0009273","name":"Deviation of the 4th finger","obsolete":false,"parents":["HP:0004097","HP:0004188"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deviation of the ring finger"}]} +{"alt_ids":["HP:0004189"],"definition":"Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected.","id":"HP:0009274","name":"Joint contracture of the 4th finger","obsolete":false,"parents":["HP:0004188","HP:0012785"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Joint contractures of the fourth finger"}]} +{"alt_ids":[],"definition":"Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue.","id":"HP:0009275","name":"Contracture of the distal interphalangeal joint of the 4th finger","obsolete":false,"parents":["HP:0009274","HP:0009697"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005845"],"definition":"Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.","id":"HP:0009276","name":"Contracture of the proximal interphalangeal joint of the 4th finger","obsolete":false,"parents":["HP:0009274","HP:0100490"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"4th finger camptodactyly"},{"scope":"EXACT","text":"Camptodactyly of the 4th finger"},{"scope":"EXACT","text":"Camptodactyly of the ring finger"}]} +{"alt_ids":[],"definition":"Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue.","id":"HP:0009277","name":"Contracture of the metacarpophalangeal joint of the 4th finger","obsolete":false,"parents":["HP:0009274"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Displacement of the 4th finger towards the ulnar side (i.e., towards the 5th finger).","id":"HP:0009278","name":"Ulnar deviation of the 4th finger","obsolete":false,"parents":["HP:0009273","HP:0009465"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ulnar deviation of the ring finger"}]} +{"alt_ids":[],"definition":"Displacement of the 4th finger towards the radial side (i.e., towards the thumb).","id":"HP:0009279","name":"Radial deviation of the 4th finger","obsolete":false,"parents":["HP:0009273","HP:0009466"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Radial deviation of the ring finger"}]} +{"alt_ids":["HP:0004190","HP:0006211"],"definition":"Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger.","id":"HP:0009280","name":"Short 4th finger","obsolete":false,"parents":["HP:0009272","HP:0009381"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic/small 4th finger"},{"scope":"EXACT","text":"Short ring finger"}]} +{"alt_ids":[],"definition":"Absent 4th finger.","id":"HP:0009281","name":"Aplasia of the 4th finger","obsolete":false,"parents":["HP:0009272","HP:0009380"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent ring finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009282","name":"Abnormality of the distal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009172"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the outermost bone of ring finger"}]} +{"alt_ids":["HP:0004204"],"definition":null,"id":"HP:0009283","name":"Abnormality of the middle phalanx of the 4th finger","obsolete":false,"parents":["HP:0009172"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal middle bone of ring finger"},{"scope":"EXACT","text":"Abnormality of the middle phalanx of the ring finger"}]} +{"alt_ids":["HP:0004199"],"definition":null,"id":"HP:0009284","name":"Abnormality of the proximal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009172"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal innermost bone of ring finger"},{"scope":"EXACT","text":"Abnormality of the proximal phalanx of the ring finger"}]} +{"alt_ids":[],"definition":"Curved appearance of the phalanges of the 4th (ring) finger.","id":"HP:0009285","name":"Curved phalanges of the 4th finger","obsolete":false,"parents":["HP:0004095","HP:0009172","HP:0009770"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved ring finger bone"}]} +{"alt_ids":[],"definition":"Curved appearance of the distal phalanx of the 4th (ring) finger.","id":"HP:0009286","name":"Curved distal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009282","HP:0009285","HP:0009838"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved outermost ring finger bone"}]} +{"alt_ids":[],"definition":"Curved appearance of the middle phalanx of the 4th (ring) finger.","id":"HP:0009287","name":"Curved middle phalanx of the 4th finger","obsolete":false,"parents":["HP:0009283","HP:0009285","HP:0009846"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved middle ring finger bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009288","name":"Curved proximal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009284","HP:0009285","HP:0009854"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved innermost ring finger bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009289","name":"Aplasia/Hypoplasia of the distal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009282","HP:0009408"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small outermost ring finger bone"},{"scope":"EXACT","text":"Absent/underdeveloped outermost ring finger bone"}]} +{"alt_ids":[],"definition":"Hypoplastic/small distal phalanx of the fourth finger.","id":"HP:0009290","name":"Short distal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009280","HP:0009289","HP:0009882"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic/small distal phalanx of the 4th finger"},{"scope":"EXACT","text":"Short distal phalanx of the fourth finger"},{"scope":"EXACT","text":"Short outermost bone of ring finger"}]} +{"alt_ids":[],"definition":"Absence of the distal phalanx of the ring (4th) finger.","id":"HP:0009291","name":"Aplasia of the distal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009281","HP:0009289","HP:0009881"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent outermost bone of ring finger"}]} +{"alt_ids":[],"definition":"Increased width of the distal phalanx of the 4th finger.","id":"HP:0009292","name":"Broad distal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009282","HP:0009404","HP:0009836"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad outermost bone of ring finger"},{"scope":"EXACT","text":"Wide outermost bone of ring finger"}]} +{"alt_ids":[],"definition":"Increased width of the middle phalanx of the 4th finger.","id":"HP:0009293","name":"Broad middle phalanx of the 4th finger","obsolete":false,"parents":["HP:0009283","HP:0009404","HP:0009844"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad middle bone of the 4th finger"}]} +{"alt_ids":[],"definition":"Absence of the middle phalanx of the ring (4th) finger.","id":"HP:0009294","name":"Absent middle phalanx of 4th finger","obsolete":false,"parents":["HP:0009281","HP:0009299","HP:0010239"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent middle bone of 4th finger"},{"scope":"EXACT","text":"Aplasia of the middle phalanx of the 4th finger"}]} +{"alt_ids":["HP:0004205","HP:0004206"],"definition":"Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger.","id":"HP:0009295","name":"Short middle phalanx of the 4th finger","obsolete":false,"parents":["HP:0005819","HP:0009280","HP:0009299"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brachymesophalangy IV (finger)"},{"scope":"EXACT","text":"Hypoplastic/small middle phalanx of ring finger"},{"scope":"EXACT","text":"Hypoplastic/small middle phalanx of the 4th finger"},{"scope":"EXACT","text":"Short middle bone of 4th finger"},{"scope":"EXACT","text":"Short middle phalanx of ring finger"}]} +{"alt_ids":[],"definition":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected.","id":"HP:0009296","name":"Bullet-shaped middle phalanx of the 4th finger","obsolete":false,"parents":["HP:0009283","HP:0009405","HP:0009845"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped middle bone of the 4th finger"}]} +{"alt_ids":[],"definition":"Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger.","id":"HP:0009297","name":"Osteolytic defects of the middle phalanx of the 4th finger","obsolete":false,"parents":["HP:0004195","HP:0009283","HP:0009847"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the proximal phalanx of the ring (4th) finger.","id":"HP:0009298","name":"Aplasia of the proximal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009281","HP:0009300","HP:0010242"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent innermost ring finger bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009299","name":"Aplasia/Hypoplasia of the middle phalanx of the 4th finger","obsolete":false,"parents":["HP:0009283","HP:0009408"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small middle ring finger bone"},{"scope":"EXACT","text":"Absent/underdeveloped middle ring finger bone"}]} +{"alt_ids":["HP:0004203"],"definition":null,"id":"HP:0009300","name":"Aplasia/Hypoplasia of the proximal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009284","HP:0009408"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small innermost ring finger bone"},{"scope":"EXACT","text":"Absent/underdeveloped innermost ring finger bone"}]} +{"alt_ids":[],"definition":"Hypoplastic/small proximal phalanx of the fourth finger.","id":"HP:0009301","name":"Short proximal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009280","HP:0009300","HP:0010241"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic/small proximal phalanx of the 4th finger"},{"scope":"EXACT","text":"Short innermost bone of the ring finger"},{"scope":"EXACT","text":"Short proximal phalanx of the fourth finger"}]} +{"alt_ids":[],"definition":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected.","id":"HP:0009302","name":"Bullet-shaped distal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009282","HP:0009405","HP:0009837"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped outermost bone of ring finger"}]} +{"alt_ids":[],"definition":"Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger.","id":"HP:0009303","name":"Osteolytic defects of the distal phalanx of the 4th finger","obsolete":false,"parents":["HP:0004195","HP:0009282","HP:0009839"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger.","id":"HP:0009304","name":"Patchy sclerosis of the distal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009282","HP:0009406","HP:0009840","HP:0100902"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uneven increase in bone density in the outermost bone of the ring finger"}]} +{"alt_ids":["HP:0009474","HP:0009475"],"definition":"Bony fusion of the middle and distal phalanges of the 4th finger.","id":"HP:0009305","name":"Distal fourth finger symphalangism","obsolete":false,"parents":["HP:0001204","HP:0004197","HP:0009282"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused outermost and middle bones of ring finger"},{"scope":"EXACT","text":"Symphalangism of the distal and middle phalanges of the 4th finger"}]} +{"alt_ids":[],"definition":"Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.","id":"HP:0009306","name":"Triangular shaped distal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009282","HP:0009407","HP:0009875"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped outermost bone of the ring finger"}]} +{"alt_ids":[],"definition":"Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger.","id":"HP:0009307","name":"Patchy sclerosis of the middle phalanx of the 4th finger","obsolete":false,"parents":["HP:0009283","HP:0009406","HP:0009848","HP:0100906"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uneven increase in bone density in the middle bone of the ring finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009308","name":"obsolete Symphalangism of middle phalanx of 4th finger","obsolete":true,"parents":[],"replaced_by":["HP:0004197"],"synonyms":[]} +{"alt_ids":[],"definition":"Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.","id":"HP:0009309","name":"Triangular shaped middle phalanx of the 4th finger","obsolete":false,"parents":["HP:0009283","HP:0009407","HP:0009850"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped middle bone of the ring finger"}]} +{"alt_ids":["HP:0004201"],"definition":"Increased width of the proximal phalanx of the 4th finger.","id":"HP:0009310","name":"Broad proximal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009284","HP:0009404","HP:0009852"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad innermost ring finger bone"}]} +{"alt_ids":[],"definition":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected.","id":"HP:0009311","name":"Bullet-shaped proximal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009284","HP:0009405","HP:0009853"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped innermost ring finger bone"}]} +{"alt_ids":["HP:0004202"],"definition":"Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger.","id":"HP:0009312","name":"Osteolytic defects of the proximal phalanx of the 4th finger","obsolete":false,"parents":["HP:0004195","HP:0009284","HP:0009855"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger.","id":"HP:0009313","name":"Patchy sclerosis of the proximal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009284","HP:0009406","HP:0009856","HP:0100910"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uneven increase in bone density in the innermost bone of the ring finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009314","name":"obsolete Symphalangism affecting the proximal phalanx of the 4th finger","obsolete":true,"parents":[],"replaced_by":["HP:0009477"],"synonyms":[]} +{"alt_ids":[],"definition":"Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.","id":"HP:0009315","name":"Triangular shaped proximal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009284","HP:0009407","HP:0009858"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped innermost bone of the 4th finger"},{"scope":"EXACT","text":"Triangular shaped innermost bone of the ring finger"}]} +{"alt_ids":["HP:0004155"],"definition":"Abnormality of the phalanges of the 3rd (middle) finger.","id":"HP:0009316","name":"Abnormal 3rd finger phalanx morphology","obsolete":false,"parents":["HP:0004150","HP:0005918"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of 3rd finger phalanges"},{"scope":"EXACT","text":"Abnormality of middle finger phalanges"},{"scope":"EXACT","text":"Abnormality of the middle finger bones"},{"scope":"EXACT","text":"Abnormality of the phalanges of the 3rd finger"}]} +{"alt_ids":["HP:0004152"],"definition":"Displacement of the 3rd finger from its normal position.","id":"HP:0009317","name":"Deviation of the 3rd finger","obsolete":false,"parents":["HP:0004097","HP:0004150"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deviated middle finger"}]} +{"alt_ids":[],"definition":"A small/hypoplastic or absent/aplastic 3rd (middle) finger.","id":"HP:0009318","name":"Aplasia/Hypoplasia of the 3rd finger","obsolete":false,"parents":["HP:0004150","HP:0006265"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small middle finger"},{"scope":"EXACT","text":"Absent/underdeveloped middle finger"}]} +{"alt_ids":["HP:0004151"],"definition":"Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected.","id":"HP:0009319","name":"Joint contracture of the 3rd finger","obsolete":false,"parents":["HP:0004150","HP:0012785"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Camptodactyly of middle finger"}]} +{"alt_ids":[],"definition":"Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger.","id":"HP:0009320","name":"Abnormality of the epiphyses of the 3rd finger","obsolete":false,"parents":["HP:0004150","HP:0005920"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of end part of the middle bone of the middle finger"}]} +{"alt_ids":[],"definition":"Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger.","id":"HP:0009321","name":"Absent epiphysis of the middle phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009334","HP:0009410","HP:0010257"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of the middle bone of the middle finger"}]} +{"alt_ids":[],"definition":"An abnormality of the middle phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.","id":"HP:0009322","name":"Bracket epiphysis of the middle phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009334","HP:0009411","HP:0010258"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of the middle bone of the middle finger"}]} +{"alt_ids":[],"definition":"A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.","id":"HP:0009323","name":"Cone-shaped epiphysis of the middle phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009334","HP:0009412","HP:0010259"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of the middle bone of the middle finger"}]} +{"alt_ids":[],"definition":"Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms.","id":"HP:0009324","name":"Enlarged epiphysis of the middle phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009334","HP:0009413","HP:0010260"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of the middle bone of the middle finger"}]} +{"alt_ids":[],"definition":"Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger.","id":"HP:0009325","name":"Fragmentation of the epiphysis of the middle phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009334","HP:0009414","HP:0010261"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of end part of the middle bone of the middle finger"}]} +{"alt_ids":[],"definition":"Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger.","id":"HP:0009326","name":"Irregular epiphysis of the middle phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009334","HP:0009415","HP:0010262"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of the middle bone of the middle finger"}]} +{"alt_ids":[],"definition":"Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.","id":"HP:0009327","name":"Ivory epiphysis of the middle phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009334","HP:0009416","HP:0010263"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the middle bone of the middle finger"}]} +{"alt_ids":["HP:0004176"],"definition":"A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.","id":"HP:0009328","name":"Pseudoepiphysis of the middle phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009334","HP:0009417","HP:0010264"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pseudoepiphyses of middle phalanx of middle-finger"}]} +{"alt_ids":[],"definition":"Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms.","id":"HP:0009329","name":"Small epiphysis of the middle phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009334","HP:0009418","HP:0010265"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of the middle bone of the middle finger"}]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger.","id":"HP:0009330","name":"Stippling of the epiphysis of the middle phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009334","HP:0009419","HP:0010266"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in end part of the middle bone of the middle finger"}]} +{"alt_ids":[],"definition":"A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.","id":"HP:0009331","name":"Triangular epiphysis of the middle phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009334","HP:0009420","HP:0010267"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delta-shaped epiphysis of the middle phalanx of the 3rd finger"},{"scope":"EXACT","text":"Triangular end part of the middle bone of the middle finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009332","name":"Abnormality of the epiphysis of the distal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009320","HP:0009357","HP:0010243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the outermost bone of the middle finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009333","name":"Abnormality of the epiphysis of the proximal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009320","HP:0009358","HP:0010245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the innermost bone of the middle finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009334","name":"Abnormality of the epiphysis of the middle phalanx of the 3rd finger","obsolete":false,"parents":["HP:0004172","HP:0009320","HP:0010244"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the middle part of the middle bone of the middle finger"}]} +{"alt_ids":[],"definition":"Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger.","id":"HP:0009335","name":"Absent epiphysis of the distal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009332","HP:0009410","HP:0010246"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of the outermost bone of the middle finger"}]} +{"alt_ids":[],"definition":"An abnormality of the distal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.","id":"HP:0009336","name":"Bracket epiphysis of the distal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009332","HP:0009411","HP:0010247"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of the outermost bone of the middle finger"}]} +{"alt_ids":[],"definition":"A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.","id":"HP:0009337","name":"Cone-shaped epiphysis of the distal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009332","HP:0009412","HP:0010248"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of the outermost bone of the middle finger"}]} +{"alt_ids":[],"definition":"Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms.","id":"HP:0009338","name":"Enlarged epiphysis of the distal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009332","HP:0009413","HP:0010249"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of the outermost bone of the 3rd finger"}]} +{"alt_ids":[],"definition":"Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger.","id":"HP:0009339","name":"Fragmentation of the epiphysis of the distal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009332","HP:0009414","HP:0010250"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of end part of the outermost bone of the middle finger"}]} +{"alt_ids":[],"definition":"Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger.","id":"HP:0009340","name":"Irregular epiphysis of the distal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009332","HP:0009415","HP:0010251"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of the outermost long bone of the middle finger"}]} +{"alt_ids":[],"definition":"Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.","id":"HP:0009341","name":"Ivory epiphysis of the distal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009332","HP:0009416","HP:0010252"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the outermost middle finger bone"}]} +{"alt_ids":[],"definition":"A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.","id":"HP:0009342","name":"Pseudoepiphysis of the distal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009332","HP:0009417","HP:0010253"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pseudoepiphysis of the outermost bone of the middle finger"}]} +{"alt_ids":[],"definition":"Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms.","id":"HP:0009343","name":"Small epiphysis of the distal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009332","HP:0009418","HP:0010254"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of the outermost long bone of the middle finger"}]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger.","id":"HP:0009344","name":"Stippling of the epiphysis of the distal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009332","HP:0009419","HP:0010255"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in end part of the outermost long bone of the middle finger"}]} +{"alt_ids":[],"definition":"A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.","id":"HP:0009345","name":"Triangular epiphysis of the distal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009332","HP:0009420","HP:0010256"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delta-shaped epiphysis of the distal phalanx of the 3rd finger"},{"scope":"EXACT","text":"Triangular end part of the outermost long bone of the middle finger"}]} +{"alt_ids":[],"definition":"Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger.","id":"HP:0009346","name":"Absent epiphysis of the proximal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009333","HP:0009410","HP:0010268"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of innermost long bone of the middle finger"}]} +{"alt_ids":[],"definition":"An abnormality of the proximal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.","id":"HP:0009347","name":"Bracket epiphysis of the proximal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009333","HP:0009411","HP:0010269"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of innermost long bone of the middle finger"}]} +{"alt_ids":[],"definition":"A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.","id":"HP:0009348","name":"Cone-shaped epiphysis of the proximal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009333","HP:0009412","HP:0010270"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of the innermost bone of the middle finger"}]} +{"alt_ids":["HP:0004171"],"definition":"Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms.","id":"HP:0009349","name":"Enlarged epiphysis of the proximal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009333","HP:0009413","HP:0010271"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of innermost long bone of the middle finger"},{"scope":"EXACT","text":"Large epiphysis of proximal middle-finger phalanx"}]} +{"alt_ids":[],"definition":"Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger.","id":"HP:0009350","name":"Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009333","HP:0009414","HP:0010272"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of end part of innermost long bone of the middle finger"}]} +{"alt_ids":[],"definition":"Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger.","id":"HP:0009351","name":"Irregular epiphysis of the proximal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009333","HP:0009415","HP:0010273"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of innermost long bone of the middle finger"}]} +{"alt_ids":[],"definition":"Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.","id":"HP:0009352","name":"Ivory epiphysis of the proximal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009333","HP:0009416","HP:0010274"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the innermost middle finger bone"}]} +{"alt_ids":[],"definition":"A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.","id":"HP:0009353","name":"Pseudoepiphysis of the proximal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009333","HP:0009417","HP:0010275"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms.","id":"HP:0009354","name":"Small epiphysis of the proximal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009333","HP:0009418","HP:0010276"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of innermost long bone of the middle finger"}]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger.","id":"HP:0009355","name":"Stippling of the epiphysis of the proximal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009333","HP:0009419","HP:0010277"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in end part of innermost long bone of the middle finger"}]} +{"alt_ids":[],"definition":"A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.","id":"HP:0009356","name":"Triangular epiphysis of the proximal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009333","HP:0009420","HP:0010278"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delta-shaped epiphysis of the proximal phalanx of the 3rd finger"},{"scope":"EXACT","text":"Triangular end part of innermost long bone of the middle finger"}]} +{"alt_ids":["HP:0004179"],"definition":null,"id":"HP:0009357","name":"Abnormality of the distal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009316"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of terminal phalanx of middle-finger"},{"scope":"EXACT","text":"Abnormality of the outermost bone of the 3rd finger"}]} +{"alt_ids":["HP:0004167"],"definition":null,"id":"HP:0009358","name":"Abnormality of the proximal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009316"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal innermost bone of middle finger"},{"scope":"EXACT","text":"Abnormality of proximal middle-finger phalanx"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009370","name":"Type A brachydactyly","obsolete":false,"parents":["HP:0001156"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0009371","name":"Type A1 brachydactyly","obsolete":false,"parents":["HP:0009370"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0009372","name":"Type A2 brachydactyly","obsolete":false,"parents":["HP:0009370"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short index fingers and second toes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009373","name":"Type C brachydactyly","obsolete":false,"parents":["HP:0001156"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased width of the phalanges of the 5th finger.","id":"HP:0009374","name":"Broad phalanges of the 5th finger","obsolete":false,"parents":["HP:0004213","HP:0009768"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad little finger bones"},{"scope":"EXACT","text":"Broad pinkie finger bones"},{"scope":"EXACT","text":"Broad pinky finger bones"}]} +{"alt_ids":[],"definition":"A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.","id":"HP:0009375","name":"Bullet-shaped phalanges of the 5th finger","obsolete":false,"parents":["HP:0004213","HP:0009769"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped little finger bones"},{"scope":"EXACT","text":"Bullet-shaped pinkie finger bones"},{"scope":"EXACT","text":"Bullet-shaped pinky finger bones"}]} +{"alt_ids":[],"definition":"Aplasia/Hypoplasia of the phalanges of the 5th finger.","id":"HP:0009376","name":"Aplasia/Hypoplasia of the phalanges of the 5th finger","obsolete":false,"parents":["HP:0004213","HP:0009767"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small little finger bones"},{"scope":"EXACT","text":"Absent/small pinkie finger bones"},{"scope":"EXACT","text":"Absent/small pinky finger bones"},{"scope":"EXACT","text":"Absent/underdeveloped pinky finger bones"}]} +{"alt_ids":[],"definition":"Uneven increase in bone density of one or more of the phalanges of the 5th finger.","id":"HP:0009377","name":"Patchy sclerosis of 5th finger phalanx","obsolete":false,"parents":["HP:0009772","HP:0100921"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Patchy sclerosis of the phalanges of the 5th finger"},{"scope":"EXACT","text":"Uneven increase in bone density in little finger bone"},{"scope":"EXACT","text":"Uneven increase in bone density in pinkie finger bone"},{"scope":"EXACT","text":"Uneven increase in bone density in pinky finger bone"}]} +{"alt_ids":[],"definition":"Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.","id":"HP:0009378","name":"Triangular shaped phalanges of the 5th finger","obsolete":false,"parents":["HP:0004213","HP:0009774"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped little finger bones"},{"scope":"EXACT","text":"Triangular shaped pinkie finger bones"},{"scope":"EXACT","text":"Triangular shaped pinky finger bones"}]} +{"alt_ids":[],"definition":"Rhomboid or triangular shaped 5th (little) finger distal phalanx.","id":"HP:0009379","name":"Rhomboid or triangular shaped 5th finger distal phalanx","obsolete":false,"parents":["HP:0009245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rhomboid or triangular shaped little finger bone"},{"scope":"EXACT","text":"Rhomboid or triangular shaped pinkie finger bone"},{"scope":"EXACT","text":"Rhomboid or triangular shaped pinky finger bone"}]} +{"alt_ids":["HP:0001180","HP:0004093"],"definition":"A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers).","id":"HP:0009380","name":"Finger aplasia","obsolete":false,"parents":["HP:0006265"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent fingers"},{"scope":"EXACT","text":"Aplasia of the fingers"},{"scope":"EXACT","text":"Hand has less than 5 fingers"},{"scope":"EXACT","text":"Hand oligodactyly"}]} +{"alt_ids":["HP:0004098","HP:0006015"],"definition":"Abnormally short finger associated with developmental hypoplasia.","id":"HP:0009381","name":"Short finger","obsolete":false,"parents":["HP:0006265","HP:0011927"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic digits"},{"scope":"EXACT","text":"Hypoplastic fingers"},{"scope":"EXACT","text":"Hypoplastic/small fingers"},{"scope":"EXACT","text":"Short finger"},{"scope":"EXACT","text":"Stubby finger"},{"scope":"EXACT","text":"Stubby fingers"}]} +{"alt_ids":[],"definition":"Absence of one or more epiphyses of the 5th finger.","id":"HP:0009382","name":"Absent epiphyses of the 5th finger","obsolete":false,"parents":["HP:0009152","HP:0010228"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of little finger bone"},{"scope":"EXACT","text":"Absent end part of pinkie finger bone"},{"scope":"EXACT","text":"Absent end part of pinky finger bone"}]} +{"alt_ids":[],"definition":"An abnormality of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.","id":"HP:0009383","name":"Bracket epiphyses of the 5th finger","obsolete":false,"parents":["HP:0009152","HP:0010229"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of little finger bone"},{"scope":"EXACT","text":"Bracket shaped end part of pinkie finger bone"},{"scope":"EXACT","text":"Bracket shaped end part of pinky finger bone"}]} +{"alt_ids":[],"definition":"A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.","id":"HP:0009384","name":"Cone-shaped epiphyses of the 5th finger","obsolete":false,"parents":["HP:0009152","HP:0010230"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of the little finger bones"},{"scope":"EXACT","text":"Cone-shaped end part of the pinkie finger bones"},{"scope":"EXACT","text":"Cone-shaped end part of the pinky finger bones"}]} +{"alt_ids":[],"definition":"Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms.","id":"HP:0009385","name":"Enlarged epiphyses of the 5th finger","obsolete":false,"parents":["HP:0009152","HP:0010231"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of the little finger bones"},{"scope":"EXACT","text":"Enlarged end part of the pinkie finger bones"},{"scope":"EXACT","text":"Enlarged end part of the pinky finger bones"}]} +{"alt_ids":[],"definition":"Fragmented appearance of the epiphyses of the 5th finger.","id":"HP:0009386","name":"Fragmentation of the epiphyses of the 5th finger","obsolete":false,"parents":["HP:0009152","HP:0010232"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of the end part of the little finger bones"},{"scope":"EXACT","text":"Fragmentation of the end part of the pinkie finger bones"},{"scope":"EXACT","text":"Fragmentation of the end part of the pinky finger bones"}]} +{"alt_ids":[],"definition":"Irregular radiographic opacity of the epiphyses of the 5th finger.","id":"HP:0009387","name":"Irregular epiphyses of the 5th finger","obsolete":false,"parents":["HP:0009152","HP:0010233"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of the little finger bones"},{"scope":"EXACT","text":"Irregular end part of the pinkie finger bones"},{"scope":"EXACT","text":"Irregular end part of the pinky finger bones"}]} +{"alt_ids":[],"definition":"Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.","id":"HP:0009388","name":"Ivory epiphyses of the 5th finger","obsolete":false,"parents":["HP:0009152","HP:0010234","HP:0100921"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the little finger"},{"scope":"EXACT","text":"Increased bone density of end part of the pinkie finger"},{"scope":"EXACT","text":"Increased bone density of end part of the pinky finger"}]} +{"alt_ids":[],"definition":"A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.","id":"HP:0009389","name":"Pseudoepiphyses of the 5th finger","obsolete":false,"parents":["HP:0009152","HP:0010235"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms.","id":"HP:0009390","name":"Small epiphyses of the 5th finger","obsolete":false,"parents":["HP:0009152","HP:0010236"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of little finger bone"},{"scope":"EXACT","text":"Small end part of pinkie finger bone"},{"scope":"EXACT","text":"Small end part of pinky finger bone"}]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger.","id":"HP:0009391","name":"Stippling of the epiphyses of the 5th finger","obsolete":false,"parents":["HP:0009152","HP:0010237"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in end part of little finger bone"},{"scope":"EXACT","text":"Speckled calcifications in end part of pinkie finger bone"},{"scope":"EXACT","text":"Speckled calcifications in end part of pinky finger bone"}]} +{"alt_ids":[],"definition":"A triangular appearance of the epiphyses of the 5th finger of the hand.","id":"HP:0009392","name":"Triangular epiphyses of the 5th finger","obsolete":false,"parents":["HP:0009152","HP:0010238"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delta-shaped epiphyses of the 5th finger"},{"scope":"EXACT","text":"Triangular end part of the little finger"},{"scope":"EXACT","text":"Triangular end part of the pinkie finger"},{"scope":"EXACT","text":"Triangular end part of the pinky finger"}]} +{"alt_ids":[],"definition":"Absence of one or more epiphyses of the 4th finger.","id":"HP:0009393","name":"Absent epiphyses of the 4th finger","obsolete":false,"parents":["HP:0009174","HP:0010228"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of the ring finger bone"}]} +{"alt_ids":["HP:0004192"],"definition":"An abnormality of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.","id":"HP:0009394","name":"Bracket epiphyses of the 4th finger","obsolete":false,"parents":["HP:0009174","HP:0010229"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of ring finger bones"}]} +{"alt_ids":[],"definition":"A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.","id":"HP:0009395","name":"Cone-shaped epiphyses of the 4th finger","obsolete":false,"parents":["HP:0009174","HP:0010230"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of the ring finger bones"}]} +{"alt_ids":[],"definition":"Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms.","id":"HP:0009396","name":"Enlarged epiphyses of the 4th finger","obsolete":false,"parents":["HP:0009174","HP:0010231"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of the ring finger bones"}]} +{"alt_ids":[],"definition":"Fragmented appearance of the epiphyses of the 4th finger.","id":"HP:0009397","name":"Fragmentation of the epiphyses of the 4th finger","obsolete":false,"parents":["HP:0009174","HP:0010232"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of the end part of the ring finger bones"}]} +{"alt_ids":[],"definition":"Irregular radiographic opacity of the epiphyses of the 4th finger.","id":"HP:0009398","name":"Irregular epiphyses of the 4th finger","obsolete":false,"parents":["HP:0009174","HP:0010233"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of the ring finger bones"}]} +{"alt_ids":[],"definition":"Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.","id":"HP:0009399","name":"Ivory epiphyses of the 4th finger","obsolete":false,"parents":["HP:0009174","HP:0010234","HP:0100920"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the ring finger bone"}]} +{"alt_ids":[],"definition":"A secondary ossification center in the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.","id":"HP:0009400","name":"Pseudoepiphyses of the 4th finger","obsolete":false,"parents":["HP:0009174","HP:0010235"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms.","id":"HP:0009401","name":"Small epiphyses of the 4th finger","obsolete":false,"parents":["HP:0009174","HP:0010236"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of ring finger bone"}]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger.","id":"HP:0009402","name":"Stippling of the epiphyses of the 4th finger","obsolete":false,"parents":["HP:0009174","HP:0010237"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in end part of ring finger bone"}]} +{"alt_ids":[],"definition":"A triangular appearance of the epiphyses of the 4th finger of the hand.","id":"HP:0009403","name":"Triangular epiphyses of the 4th finger","obsolete":false,"parents":["HP:0009174","HP:0010238"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delta-shaped epiphyses of the 4th finger"},{"scope":"EXACT","text":"Triangular end part of ring finger bone"}]} +{"alt_ids":[],"definition":"Increased width of the phalanges of the 4th finger.","id":"HP:0009404","name":"Broad phalanges of the 4th finger","obsolete":false,"parents":["HP:0009172","HP:0009768"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad bones of ring finger"}]} +{"alt_ids":[],"definition":"A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.","id":"HP:0009405","name":"Bullet-shaped phalanges of the 4th finger","obsolete":false,"parents":["HP:0009172","HP:0009769"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped of bone of ring finger"}]} +{"alt_ids":[],"definition":"Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger.","id":"HP:0009406","name":"Patchy sclerosis of 4th finger phalanx","obsolete":false,"parents":["HP:0009772","HP:0100920"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Patchy sclerosis of the phalanges of the 4th finger"},{"scope":"EXACT","text":"Uneven increase in bone density in ring finger bone"}]} +{"alt_ids":[],"definition":"Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.","id":"HP:0009407","name":"Triangular shaped phalanges of the 4th finger","obsolete":false,"parents":["HP:0009172","HP:0009774"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped bone of ring finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009408","name":"Aplasia/Hypoplasia of the phalanges of the 4th finger","obsolete":false,"parents":["HP:0009172","HP:0009767"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small ring finger bones"},{"scope":"EXACT","text":"Absent/underdeveloped ring finger bones"}]} +{"alt_ids":[],"definition":"Absence of the epiphyses of the 3rd finger.","id":"HP:0009410","name":"Absent epiphyses of the 3rd finger","obsolete":false,"parents":["HP:0009320","HP:0010228"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of middle finger bone"}]} +{"alt_ids":[],"definition":"An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.","id":"HP:0009411","name":"Bracket epiphyses of the 3rd finger","obsolete":false,"parents":["HP:0009320","HP:0010229"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of middle finger bone"}]} +{"alt_ids":[],"definition":"A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.","id":"HP:0009412","name":"Cone-shaped epiphyses of the 3rd finger","obsolete":false,"parents":["HP:0009320","HP:0010230"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of middle finger bone"}]} +{"alt_ids":[],"definition":"Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms.","id":"HP:0009413","name":"Enlarged epiphyses of the 3rd finger","obsolete":false,"parents":["HP:0009320","HP:0010231"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of middle finger bone"}]} +{"alt_ids":[],"definition":"Fragmented appearance of the epiphyses of the 3rd finger.","id":"HP:0009414","name":"Fragmentation of the epiphyses of the 3rd finger","obsolete":false,"parents":["HP:0009320","HP:0010232"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of end part of middle finger bone"}]} +{"alt_ids":[],"definition":"Irregular radiographic opacity of the epiphyses of the 3rd finger.","id":"HP:0009415","name":"Irregular epiphyses of the 3rd finger","obsolete":false,"parents":["HP:0009320","HP:0010233"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of middle finger bone"}]} +{"alt_ids":[],"definition":"Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.","id":"HP:0009416","name":"Ivory epiphyses of the 3rd finger","obsolete":false,"parents":["HP:0009320","HP:0010234","HP:0100919"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the middle finger bone"}]} +{"alt_ids":["HP:0004163"],"definition":"A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.","id":"HP:0009417","name":"Pseudoepiphyses of the 3rd finger","obsolete":false,"parents":["HP:0009320","HP:0010235"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pseudoepiphyses of middle finger phalanges"}]} +{"alt_ids":[],"definition":"Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms.","id":"HP:0009418","name":"Small epiphyses of the 3rd finger","obsolete":false,"parents":["HP:0009320","HP:0010236"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of middle finger bone"}]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger.","id":"HP:0009419","name":"Stippling of the epiphyses of the 3rd finger","obsolete":false,"parents":["HP:0009320","HP:0010237"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in end part of middle finger bone"}]} +{"alt_ids":[],"definition":"A triangular appearance of the epiphyses of the 3rd finger of the hand.","id":"HP:0009420","name":"Triangular epiphyses of the 3rd finger","obsolete":false,"parents":["HP:0009320","HP:0010238"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delta-shaped epiphyses of the 3rd finger"},{"scope":"EXACT","text":"Triangular end part of middle finger bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009421","name":"Aplasia/Hypoplasia of the distal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009357","HP:0009447"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small outermost middle finger bone"},{"scope":"EXACT","text":"Absent/underdeveloped outermost middle finger bone"}]} +{"alt_ids":[],"definition":"Increased width of the distal phalanx of the 3rd finger.","id":"HP:0009422","name":"Broad distal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009357","HP:0009440","HP:0009836"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad outermost bone of middle finger"}]} +{"alt_ids":[],"definition":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected.","id":"HP:0009423","name":"Bullet-shaped distal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009357","HP:0009441","HP:0009837"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped outermost bone of the middle finger"}]} +{"alt_ids":["HP:0004181"],"definition":"Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger.","id":"HP:0009424","name":"Osteolytic defects of the distal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009357","HP:0009443","HP:0009839"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lytic defect of terminal phalanx of middle finger"}]} +{"alt_ids":[],"definition":"Uneven (irregular) increase in bone density of the distal phalanx of the third finger.","id":"HP:0009425","name":"Patchy sclerosis of the distal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009357","HP:0009444","HP:0009840","HP:0100901"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uneven increase in bone density in the outermost bone of the 3rd finger"}]} +{"alt_ids":["HP:0009479","HP:0009480"],"definition":"Fusion of the terminal/distal and middle phalanges of the 3rd finger.","id":"HP:0009426","name":"Distal third finger symphalangism","obsolete":false,"parents":["HP:0001204","HP:0009445"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused outermost and middle bones of middle finger"},{"scope":"EXACT","text":"Symphalangism of the distal and middle phalanges of the 3rd finger"}]} +{"alt_ids":[],"definition":"Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.","id":"HP:0009427","name":"Triangular shaped distal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009357","HP:0009446","HP:0009875"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped outermost bone of the middle finger"}]} +{"alt_ids":[],"definition":"Curved appearance of the distal phalanx of the 3rd finger.","id":"HP:0009428","name":"Curved distal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009357","HP:0009442","HP:0009838"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved outermost bone of the 3rd finger"}]} +{"alt_ids":[],"definition":"Absence of the distal phalanx of the middle (3rd) finger.","id":"HP:0009429","name":"Aplasia of the distal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009421","HP:0009460","HP:0009881"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent of the outermost bone of the middle finger"}]} +{"alt_ids":["HP:0004178"],"definition":"Increased width of the middle phalanx of the 3rd finger.","id":"HP:0009430","name":"Broad middle phalanx of the 3rd finger","obsolete":false,"parents":["HP:0004172","HP:0009440","HP:0009844"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad middle bone of middle finger"},{"scope":"EXACT","text":"Wide/broad middle phalanx of middle-finger"}]} +{"alt_ids":[],"definition":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected.","id":"HP:0009431","name":"Bullet-shaped middle phalanx of the 3rd finger","obsolete":false,"parents":["HP:0004172","HP:0009441","HP:0009845"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped middle bone of middle finger"}]} +{"alt_ids":[],"definition":"Curved appearance of the middle phalanx of the 3rd (middle) finger.","id":"HP:0009432","name":"Curved middle phalanx of the 3rd finger","obsolete":false,"parents":["HP:0004172","HP:0009442","HP:0009846"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved middle bone of the middle finger"}]} +{"alt_ids":[],"definition":"Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger.","id":"HP:0009433","name":"Osteolytic defects of the middle phalanx of the 3rd finger","obsolete":false,"parents":["HP:0004172","HP:0009443","HP:0009847"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Uneven (irregular) increase in bone density of the middle phalanx of the third finger.","id":"HP:0009434","name":"Patchy sclerosis of the middle phalanx of the 3rd finger","obsolete":false,"parents":["HP:0004172","HP:0009444","HP:0009848","HP:0100905"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uneven increase in bone density in the middle bone of the middle finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009435","name":"obsolete Symphalangism of middle phalanx of 3rd finger","obsolete":true,"parents":[],"replaced_by":["HP:0009445"],"synonyms":[]} +{"alt_ids":[],"definition":"Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.","id":"HP:0009436","name":"Triangular shaped middle phalanx of the 3rd finger","obsolete":false,"parents":["HP:0004172","HP:0009446","HP:0009850"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped middle bone of the middle finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009437","name":"Aplasia/Hypoplasia of the middle phalanx of the 3rd finger","obsolete":false,"parents":["HP:0004172","HP:0009447"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small middle bone of the middle finger"},{"scope":"EXACT","text":"Absent/underdeveloped middle bone of the middle finger"}]} +{"alt_ids":["HP:0004173"],"definition":"Absence of the middle phalanx of the middle (3rd) finger.","id":"HP:0009438","name":"Absent middle phalanx of 3rd finger","obsolete":false,"parents":["HP:0009437","HP:0009460","HP:0010239"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent middle bone of middle finger"},{"scope":"EXACT","text":"Absent middle phalanx of middle finger"},{"scope":"EXACT","text":"Aplasia of the middle phalanx of the 3rd finger"}]} +{"alt_ids":["HP:0004177","HP:0006212"],"definition":"Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger.","id":"HP:0009439","name":"Short middle phalanx of the 3rd finger","obsolete":false,"parents":["HP:0005819","HP:0009437","HP:0009461"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brachymesophalangy III (finger)"},{"scope":"EXACT","text":"Hypoplastic/small middle phalanx of the 3rd finger"},{"scope":"EXACT","text":"Short middle bone of middle finger"}]} +{"alt_ids":["HP:0004166"],"definition":"Increased width of the phalanges of the 3rd finger.","id":"HP:0009440","name":"Broad phalanges of the 3rd finger","obsolete":false,"parents":["HP:0009316","HP:0009768"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide bones of middle finger"},{"scope":"EXACT","text":"Wide/broad middle finger phalanges"}]} +{"alt_ids":[],"definition":"A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.","id":"HP:0009441","name":"Bullet-shaped phalanges of the 3rd finger","obsolete":false,"parents":["HP:0009316","HP:0009769"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped bones of middle finger"}]} +{"alt_ids":[],"definition":"Curved appearance of the phalanges of the 3rd finger.","id":"HP:0009442","name":"Curved phalanges of the 3rd finger","obsolete":false,"parents":["HP:0004095","HP:0009316","HP:0009770"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved bones of middle finger"}]} +{"alt_ids":["HP:0004159"],"definition":"Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger.","id":"HP:0009443","name":"Osteolytic defects of the phalanges of the 3rd finger","obsolete":false,"parents":["HP:0009316","HP:0009771"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lytic defects of middle finger phalanges"}]} +{"alt_ids":["HP:0004160"],"definition":"Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger.","id":"HP:0009444","name":"Patchy sclerosis of 3rd finger phalanx","obsolete":false,"parents":["HP:0009772","HP:0100919"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Patchy sclerosis of middle finger phalanges"},{"scope":"EXACT","text":"Patchy sclerosis of the phalanges of the 3rd finger"},{"scope":"EXACT","text":"Uneven increase in bone density in middle finger bone"}]} +{"alt_ids":["HP:0009435"],"definition":"Congenital bony fusion of two adjacent phalanges of the third finger.","id":"HP:0009445","name":"Third finger symphalangism","obsolete":false,"parents":["HP:0009316","HP:0009700"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused middle finger"}]} +{"alt_ids":[],"definition":"Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.","id":"HP:0009446","name":"Triangular shaped phalanges of the 3rd finger","obsolete":false,"parents":["HP:0009316","HP:0009774"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped bone of the middle finger"}]} +{"alt_ids":["HP:0004156","HP:0004158","HP:0004164","HP:0004165","HP:0009449"],"definition":null,"id":"HP:0009447","name":"Aplasia/Hypoplasia of the phalanges of the 3rd finger","obsolete":false,"parents":["HP:0009316","HP:0009767"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small middle finger bone"},{"scope":"EXACT","text":"Absent/underdeveloped middle finger bone"},{"scope":"EXACT","text":"Hypoplastic middle finger phalanges"},{"scope":"EXACT","text":"Short middle finger phalanges"},{"scope":"EXACT","text":"Small middle finger phalanges"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009448","name":"obsolete Aplasia of the phalanges of the 3rd finger","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0009449","name":"obsolete Hypoplastic/small phalanges of the 3rd finger","obsolete":true,"parents":[],"replaced_by":["HP:0009447"],"synonyms":[]} +{"alt_ids":[],"definition":"Increased width of the proximal phalanx of the 3rd finger.","id":"HP:0009450","name":"Broad proximal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009358","HP:0009440","HP:0009852"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad innermost bone of middle finger"}]} +{"alt_ids":[],"definition":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected.","id":"HP:0009451","name":"Bullet-shaped proximal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009358","HP:0009441","HP:0009853"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped innermost bone of the middle finger"}]} +{"alt_ids":[],"definition":"Curved appearance of the proximal phalanx of the 3rd finger.","id":"HP:0009452","name":"Curved proximal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009358","HP:0009442","HP:0009854"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved innermost bone of middle finger"}]} +{"alt_ids":[],"definition":"Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger.","id":"HP:0009453","name":"Osteolytic defects of the proximal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009358","HP:0009443","HP:0009855"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Uneven (irregular) increase in bone density of the proximal phalanx of the third finger.","id":"HP:0009454","name":"Patchy sclerosis of the proximal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009358","HP:0009444","HP:0009856","HP:0100909"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uneven increase in bone density in the innermost bone of the middle finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009455","name":"obsolete Symphalangism affecting the proximal phalanx of the 3rd finger","obsolete":true,"parents":[],"replaced_by":["HP:0009482"],"synonyms":[]} +{"alt_ids":[],"definition":"Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.","id":"HP:0009456","name":"Triangular shaped proximal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009358","HP:0009446","HP:0009858"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped innermost bone of middle finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009457","name":"Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009358","HP:0009447"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small innermost bone of middle finger"},{"scope":"EXACT","text":"Absent/underdeveloped innermost bone of middle finger"}]} +{"alt_ids":[],"definition":"Absence of the proximal phalanx of the 3rd finger.","id":"HP:0009458","name":"Aplasia of the proximal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009457","HP:0009460","HP:0010242"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent innermost bone of middle finger"}]} +{"alt_ids":["HP:0004169","HP:0004170"],"definition":"Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger.","id":"HP:0009459","name":"Short proximal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009457","HP:0009461","HP:0010241"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic/small proximal phalanx of the 3rd finger"},{"scope":"EXACT","text":"Short innermost bone of middle finger"},{"scope":"EXACT","text":"Short proximal middle-finger phalanx"},{"scope":"EXACT","text":"Short proximal phalanx of the third finger"},{"scope":"EXACT","text":"Small proximal middle-finger phalanx"}]} +{"alt_ids":[],"definition":"Absent 3rd finger.","id":"HP:0009460","name":"Aplasia of the 3rd finger","obsolete":false,"parents":["HP:0009318","HP:0009380"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent middle finger"}]} +{"alt_ids":["HP:0004154"],"definition":"Hypoplastic/small 3rd (middle) finger.","id":"HP:0009461","name":"Short 3rd finger","obsolete":false,"parents":["HP:0009318","HP:0009381"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic/small 3rd finger"},{"scope":"EXACT","text":"Short 3rd finger"},{"scope":"EXACT","text":"Short middle finger"}]} +{"alt_ids":[],"definition":"Displacement of the 3rd finger towards the radial side (i.e., towards the thumb).","id":"HP:0009462","name":"Radial deviation of the 3rd finger","obsolete":false,"parents":["HP:0009317","HP:0009466"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inward turned middle finger"}]} +{"alt_ids":["HP:0005865","HP:0006022"],"definition":"Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger).","id":"HP:0009463","name":"Ulnar deviation of the 3rd finger","obsolete":false,"parents":["HP:0009317","HP:0009465"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ulnar deviation of middle fingers"}]} +{"alt_ids":["HP:0004102","HP:0005811"],"definition":"Displacement of the 2nd (index) finger towards the ulnar side.","id":"HP:0009464","name":"Ulnar deviation of the 2nd finger","obsolete":false,"parents":["HP:0009465","HP:0009468"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Medially deviated index finger"},{"scope":"EXACT","text":"Second finger ulnar deviation"},{"scope":"EXACT","text":"Ulnar angulation of the index finger"},{"scope":"EXACT","text":"Ulnar deviation of index fingers"}]} +{"alt_ids":["HP:0001200","HP:0004096"],"definition":"Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.","id":"HP:0009465","name":"Ulnar deviation of finger","obsolete":false,"parents":["HP:0001193","HP:0004097"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Finger bends toward pinky"},{"scope":"EXACT","text":"Ulnar Drift"}]} +{"alt_ids":["HP:0001157","HP:0001213","HP:0001503"],"definition":"Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.","id":"HP:0009466","name":"Radial deviation of finger","obsolete":false,"parents":["HP:0004097","HP:0009485"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Radially deviated fingers"},{"scope":"EXACT","text":"Radially deviated phalanges"}]} +{"alt_ids":["HP:0004103","HP:0006053"],"definition":"Displacement of the 2nd finger towards the radial side.","id":"HP:0009467","name":"Radial deviation of the 2nd finger","obsolete":false,"parents":["HP:0009466","HP:0009468"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Radially deviated index finger"}]} +{"alt_ids":["HP:0004101"],"definition":"Displacement of the 2nd finger from its normal position.","id":"HP:0009468","name":"Deviation of the 2nd finger","obsolete":false,"parents":["HP:0004097","HP:0004100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deviated index finger"},{"scope":"EXACT","text":"Displaced index finger"}]} +{"alt_ids":[],"definition":"Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.","id":"HP:0009469","name":"Contracture of the distal interphalangeal joint of the 3rd finger","obsolete":false,"parents":["HP:0009319","HP:0009697"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Contracture of the outermost hinge joint of the 3rd finger"}]} +{"alt_ids":[],"definition":"Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue.","id":"HP:0009470","name":"Contracture of the metacarpophalangeal joint of the 3rd finger","obsolete":false,"parents":["HP:0009319"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.","id":"HP:0009471","name":"Contracture of the proximal interphalangeal joint of the 3rd finger","obsolete":false,"parents":["HP:0009319","HP:0100490"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Camptodactyly of the 3rd finger"},{"scope":"EXACT","text":"Camptodactyly of the third finger"}]} +{"alt_ids":["HP:0001160","HP:0001237","HP:0004094","HP:0005814","HP:0006096","HP:0006173","HP:0006215","HP:0006238","HP:0006255","HP:0009409","HP:0009472","HP:0010563"],"definition":"Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.","id":"HP:0009473","name":"Joint contracture of the hand","obsolete":false,"parents":["HP:0001155","HP:0009810","HP:0100360"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Contractures involving the hands"},{"scope":"EXACT","text":"Contractures of the hands"}]} +{"alt_ids":["HP:0009314","HP:0009476"],"definition":"Fusion of the proximal and middle phalanges of the 4th finger.","id":"HP:0009477","name":"Proximal fourth finger symphalangism","obsolete":false,"parents":["HP:0004197","HP:0006152"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused innermost and middle bone of fourth finger"}]} +{"alt_ids":[],"definition":"Congenital fusion of the fourth metacarpal bone with the proximal phalanx of the fourth finger.","id":"HP:0009478","name":"Fourth ray metacarpophalangeal synostosis","obsolete":false,"parents":["HP:0005880","HP:0009707"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused innermost bone of ring finger with 4th long bone of hand"}]} +{"alt_ids":["HP:0009455","HP:0009481"],"definition":"Fusion of the proximal and middle phalanges of the 3rd finger.","id":"HP:0009482","name":"Proximal third finger symphalangism","obsolete":false,"parents":["HP:0006152","HP:0009445"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused of innermost and middle bones of middle finger"}]} +{"alt_ids":[],"definition":"Congenital fusion of the third metacarpal bone with the proximal phalanx of the third finger.","id":"HP:0009483","name":"Third ray metacarpophalangeal synostosis","obsolete":false,"parents":["HP:0005880","HP:0009706"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused innermost bones of middle finger with middle long bone of hand"}]} +{"alt_ids":[],"definition":"Displacement of the hand or of fingers of the hand from their normal position.","id":"HP:0009484","name":"Deviation of the hand or of fingers of the hand","obsolete":false,"parents":["HP:0005922"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Displaced hand or fingers of the hand"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009485","name":"Radial deviation of the hand or of fingers of the hand","obsolete":false,"parents":["HP:0009484"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001203"],"definition":"An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb).","id":"HP:0009486","name":"Radial deviation of the hand","obsolete":false,"parents":["HP:0009485"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Radial deviation of hands"}]} +{"alt_ids":[],"definition":"Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).","id":"HP:0009487","name":"Ulnar deviation of the hand","obsolete":false,"parents":["HP:0001193"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ulnar deviation of hands"},{"scope":"EXACT","text":"Ulnar deviation of the hands"}]} +{"alt_ids":[],"definition":"Absence of the epiphyses of the 2nd finger.","id":"HP:0009488","name":"Absent epiphyses of the 2nd finger","obsolete":false,"parents":["HP:0006263","HP:0010228"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of index finger"}]} +{"alt_ids":["HP:0004109"],"definition":"An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.","id":"HP:0009489","name":"Bracket epiphyses of the 2nd finger","obsolete":false,"parents":["HP:0006263","HP:0010229"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of index finger"},{"scope":"EXACT","text":"Bracket-epiphyses of index finger"}]} +{"alt_ids":[],"definition":"A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.","id":"HP:0009490","name":"Cone-shaped epiphyses of the 2nd finger","obsolete":false,"parents":["HP:0006263","HP:0010230"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of the index finger"}]} +{"alt_ids":[],"definition":"Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms.","id":"HP:0009491","name":"Enlarged epiphyses of the 2nd finger","obsolete":false,"parents":["HP:0006263","HP:0010231"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of the index finger"}]} +{"alt_ids":[],"definition":"Fragmented appearance of the epiphyses of the 2nd finger.","id":"HP:0009492","name":"Fragmentation of the epiphyses of the 2nd finger","obsolete":false,"parents":["HP:0006263","HP:0010232"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of end part of the index finger"}]} +{"alt_ids":[],"definition":"Irregular radiographic opacity of the epiphyses of the 2nd finger.","id":"HP:0009493","name":"Irregular epiphyses of the 2nd finger","obsolete":false,"parents":["HP:0006263","HP:0010233"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of the index finger"}]} +{"alt_ids":[],"definition":"Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.","id":"HP:0009494","name":"Ivory epiphyses of the 2nd finger","obsolete":false,"parents":["HP:0006263","HP:0010234","HP:0100918"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the index finger bone"}]} +{"alt_ids":["HP:0004107","HP:0006142"],"definition":"A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.","id":"HP:0009495","name":"Pseudoepiphysis of the 2nd finger","obsolete":false,"parents":["HP:0006263","HP:0010235"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Accessory index finger epiphysis"}]} +{"alt_ids":[],"definition":"Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms.","id":"HP:0009496","name":"Small epiphyses of the 2nd finger","obsolete":false,"parents":["HP:0006263","HP:0010236"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of the index finger"}]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger.","id":"HP:0009497","name":"Stippling of the epiphyses of the 2nd finger","obsolete":false,"parents":["HP:0006263","HP:0010237"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in end part of the index finger"}]} +{"alt_ids":[],"definition":"A triangular appearance of the epiphyses of the 2nd finger of the hand.","id":"HP:0009498","name":"Triangular epiphyses of the 2nd finger","obsolete":false,"parents":["HP:0006263","HP:0010238"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular end part of the index finger"}]} +{"alt_ids":["HP:0004146"],"definition":null,"id":"HP:0009499","name":"Abnormality of the epiphysis of the distal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0006263","HP:0009542","HP:0010243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the outermost bone of the index finger"},{"scope":"EXACT","text":"Epiphyseal abnormality of terminal index finger phalanx"}]} +{"alt_ids":["HP:0004135"],"definition":null,"id":"HP:0009500","name":"Abnormality of the epiphysis of the middle phalanx of the 2nd finger","obsolete":false,"parents":["HP:0006263","HP:0009543","HP:0010244"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of end part of the middle bone of the index finger"},{"scope":"EXACT","text":"Epiphyseal abnormality of middle phalanx of the 2nd finger"}]} +{"alt_ids":["HP:0004127"],"definition":null,"id":"HP:0009501","name":"Abnormality of the epiphysis of the proximal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0006263","HP:0009544","HP:0010245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Epiphyseal abnormality of the proximal phalanx of the 2nd finger"}]} +{"alt_ids":["HP:0004147"],"definition":"Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger.","id":"HP:0009502","name":"Absent epiphysis of the distal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009488","HP:0009499","HP:0010246"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of the outermost bone of the index finger"},{"scope":"EXACT","text":"Absent ossification/absent epiphysis of terminal index finger phalanx"}]} +{"alt_ids":[],"definition":"An abnormality of the distal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.","id":"HP:0009503","name":"Bracket epiphysis of the distal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009489","HP:0009499","HP:0010247"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of the outermost bone of the index finger"}]} +{"alt_ids":[],"definition":"A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.","id":"HP:0009504","name":"Cone-shaped epiphysis of the distal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009490","HP:0009499","HP:0010248"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of the outermost bone of the index finger"}]} +{"alt_ids":[],"definition":"Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms.","id":"HP:0009505","name":"Enlarged epiphysis of the distal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009491","HP:0009499","HP:0010249"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of the outermost bone of the index finger"}]} +{"alt_ids":[],"definition":"Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger.","id":"HP:0009506","name":"Fragmentation of the epiphysis of the distal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009492","HP:0009499","HP:0010250"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of end part of the outermost bone of the index finger"}]} +{"alt_ids":[],"definition":"Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger.","id":"HP:0009507","name":"Irregular epiphysis of the distal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009493","HP:0009499","HP:0010251"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of the outermost bone of the index finger"}]} +{"alt_ids":["HP:0004148"],"definition":"Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.","id":"HP:0009508","name":"Ivory epiphysis of the distal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009494","HP:0009499","HP:0010252"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the outermost bone of the index finger"},{"scope":"EXACT","text":"Ivory epiphysis of terminal index finger phalanx"}]} +{"alt_ids":[],"definition":"A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.","id":"HP:0009509","name":"Pseudoepiphysis of the distal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009495","HP:0009499","HP:0010253"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms.","id":"HP:0009510","name":"Small epiphysis of the distal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009496","HP:0009499","HP:0010254"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of the outermost bone of the index finger"}]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger.","id":"HP:0009511","name":"Stippling of the epiphysis of the distal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009497","HP:0009499","HP:0010255"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in end part of the outermost bone of the index finger"}]} +{"alt_ids":[],"definition":"A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.","id":"HP:0009512","name":"Triangular epiphysis of the distal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009498","HP:0009499","HP:0010256"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular end part of the outermost bone of the index finger"}]} +{"alt_ids":["HP:0004136"],"definition":null,"id":"HP:0009513","name":"Absent epiphysis of the middle phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009488","HP:0009500","HP:0010257"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent epiphyses of middle phalanx of index finger"},{"scope":"EXACT","text":"Missing end part of the middle long bone of the index finger"}]} +{"alt_ids":[],"definition":"An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.","id":"HP:0009514","name":"Bracket epiphysis of the middle phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009489","HP:0009500","HP:0010258"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of the middle long bone of the index finger"}]} +{"alt_ids":["HP:0004137"],"definition":null,"id":"HP:0009515","name":"Cone-shaped epiphysis of the middle phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009490","HP:0009500","HP:0010259"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of the middle long bone of the index finger"},{"scope":"EXACT","text":"Cone-shaped epiphyses of middle phalanx of index finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009516","name":"Enlarged epiphysis of the middle phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009491","HP:0009500","HP:0010260"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of the middle bone of the index finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009517","name":"Fragmentation of the epiphysis of the middle phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009492","HP:0009500","HP:0010261"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of end part of the middle long bone of the index finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009518","name":"Irregular epiphysis of the middle phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009493","HP:0009500","HP:0010262"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of the middle long bone of the index finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009519","name":"Ivory epiphysis of the middle phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009494","HP:0009500","HP:0010263"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the middle bone of the index finger"}]} +{"alt_ids":[],"definition":"A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.","id":"HP:0009520","name":"Pseudoepiphysis of the middle phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009495","HP:0009500","HP:0010264"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0009521","name":"Small epiphysis of the middle phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009496","HP:0009500","HP:0010265"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of the innermost long bone of index finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009522","name":"Stippling of the epiphysis of the middle phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009497","HP:0009500","HP:0010266"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in end part of the middle bone of the index finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009523","name":"Triangular epiphysis of the middle phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009498","HP:0009500","HP:0010267"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular end part of the middle bone of the index finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009524","name":"Absent epiphysis of the proximal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009488","HP:0009501","HP:0010268"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of innermost long bone of index finger"}]} +{"alt_ids":["HP:0004120"],"definition":"An abnormality of the proximal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.","id":"HP:0009525","name":"Bracket epiphysis of the proximal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009489","HP:0009501","HP:0010269"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket epiphyses of proximal index finger phalanx"},{"scope":"EXACT","text":"Bracket shaped end part of innermost long bone of index finger"}]} +{"alt_ids":["HP:0004128"],"definition":null,"id":"HP:0009526","name":"Cone-shaped epiphysis of the proximal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009490","HP:0009501","HP:0010270"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of innermost long bone of index finger"},{"scope":"EXACT","text":"Cone-shaped epiphysis of proximal index finger phalanx"}]} +{"alt_ids":["HP:0004129"],"definition":null,"id":"HP:0009527","name":"Enlarged epiphysis of the proximal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009491","HP:0009501","HP:0010271"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of innermost long bone of index finger"},{"scope":"EXACT","text":"Large epiphysis of proximal index finger phalanx"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009528","name":"Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009492","HP:0009501","HP:0010272"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of end part of innermost long bone of index finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009529","name":"Irregular epiphysis of the proximal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009493","HP:0009501","HP:0010273"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of innermost long bone of index finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009530","name":"Ivory epiphysis of the proximal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009494","HP:0009501","HP:0010274"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the innermost bone of the index finger"}]} +{"alt_ids":[],"definition":"A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.","id":"HP:0009531","name":"Pseudoepiphysis of the proximal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009495","HP:0009501","HP:0010275"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0009532","name":"Small epiphysis of the proximal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009496","HP:0009501","HP:0010276"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of proximal long bond of index finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009533","name":"Stippling of the epiphysis of the proximal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009497","HP:0009501","HP:0010277"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in end part of the innermost long bone of index finger"}]} +{"alt_ids":["HP:0004130"],"definition":null,"id":"HP:0009534","name":"Triangular epiphysis of the proximal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009498","HP:0009501","HP:0010278"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular end part of innermost long bone of index finger"},{"scope":"EXACT","text":"Triangular epiphysis of proximal index finger phalanx"}]} +{"alt_ids":["HP:0004106"],"definition":"Absent 2nd (index) finger.","id":"HP:0009535","name":"Aplasia of the 2nd finger","obsolete":false,"parents":["HP:0006264","HP:0009380"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent index finger"},{"scope":"EXACT","text":"Absent index finger phalanges"},{"scope":"EXACT","text":"Aplasia of the index finger"}]} +{"alt_ids":["HP:0004104","HP:0004113","HP:0004115","HP:0005796"],"definition":"Hypoplasia of the second finger, also known as the index finger.","id":"HP:0009536","name":"Short 2nd finger","obsolete":false,"parents":["HP:0006264","HP:0009381"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic index finger phalanges"},{"scope":"EXACT","text":"Hypoplastic/small index finger"},{"scope":"EXACT","text":"Short index finger"},{"scope":"EXACT","text":"Short index finger phalanges"},{"scope":"EXACT","text":"Short index fingers"}]} +{"alt_ids":[],"definition":"Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected.","id":"HP:0009537","name":"Flexion contracture of the 2nd finger","obsolete":false,"parents":["HP:0004100","HP:0012785"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Joint contractures of the 2nd finger"}]} +{"alt_ids":[],"definition":"Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.","id":"HP:0009538","name":"Contracture of the distal interphalangeal joint of the 2nd finger","obsolete":false,"parents":["HP:0009537","HP:0009697"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue.","id":"HP:0009539","name":"Contracture of the metacarpophalangeal joint of the 2nd finger","obsolete":false,"parents":["HP:0009537"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.","id":"HP:0009540","name":"Contracture of the proximal interphalangeal joint of the 2nd finger","obsolete":false,"parents":["HP:0009537","HP:0100490"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Camptodactyly of 2nd finger"},{"scope":"EXACT","text":"Camptodactyly of index finger"},{"scope":"EXACT","text":"Camptodactyly of second finger"}]} +{"alt_ids":["HP:0004105"],"definition":"Abnormality of the phalanges of the 2nd (index) finger.","id":"HP:0009541","name":"Abnormality of the phalanges of the 2nd finger","obsolete":false,"parents":["HP:0004100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal index finger bones"},{"scope":"EXACT","text":"Abnormality of 2nd finger phalanges"}]} +{"alt_ids":["HP:0004111","HP:0004140"],"definition":null,"id":"HP:0009542","name":"Abnormality of the distal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009541"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of terminal index finger phalanx"},{"scope":"EXACT","text":"Abnormality of the outermost bone of the 2nd finger"}]} +{"alt_ids":["HP:0004131"],"definition":null,"id":"HP:0009543","name":"Abnormality of the middle phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009541"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal middle index finger bone"},{"scope":"EXACT","text":"Abnormality of middle 2nd finger phalanx"}]} +{"alt_ids":["HP:0004119"],"definition":null,"id":"HP:0009544","name":"Abnormality of the proximal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009541"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal innermost index finger bone"},{"scope":"EXACT","text":"Abnormality of the proximal 2nd finger phalanx"}]} +{"alt_ids":["HP:0004116","HP:0009574"],"definition":"Congenital bony fusion of two adjacent phalanges of the second finger.","id":"HP:0009545","name":"Second finger symphalangism","obsolete":false,"parents":["HP:0009541","HP:0009700"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused index finger bones"},{"scope":"EXACT","text":"Symphalangism of index finger phalanges"}]} +{"alt_ids":["HP:0004117"],"definition":"Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.","id":"HP:0009546","name":"Triangular shaped phalanges of the 2nd finger","obsolete":false,"parents":["HP:0009541"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular bones of index finger"},{"scope":"EXACT","text":"Triangular index finger phalanges"}]} +{"alt_ids":["HP:0004118"],"definition":null,"id":"HP:0009547","name":"Broad phalanges of the 2nd finger","obsolete":false,"parents":["HP:0009541","HP:0009768"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide index finger bones"},{"scope":"EXACT","text":"Wide/broad index finger phalanges"}]} +{"alt_ids":[],"definition":"A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.","id":"HP:0009548","name":"Bullet-shaped phalanges of the 2nd finger","obsolete":false,"parents":["HP:0009769"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped index finger bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009549","name":"Curved phalanges of the 2nd finger","obsolete":false,"parents":["HP:0004095","HP:0009541","HP:0009770"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved index finger bones"}]} +{"alt_ids":["HP:0004114"],"definition":null,"id":"HP:0009550","name":"Osteolytic defects of the phalanges of the 2nd finger","obsolete":false,"parents":["HP:0009541","HP:0009771"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lytic defect in index finger phalanges"}]} +{"alt_ids":[],"definition":"Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger.","id":"HP:0009551","name":"Patchy sclerosis of 2nd finger phalanx","obsolete":false,"parents":["HP:0009772","HP:0100918"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Patchy sclerosis of the phalanges of the 2nd finger"},{"scope":"EXACT","text":"Uneven increase in bone density in index finger bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009552","name":"Aplasia/Hypoplasia of the phalanges of the 2nd finger","obsolete":false,"parents":["HP:0009541","HP:0009767"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small index finger bone"},{"scope":"EXACT","text":"Absent/underdeveloped index finger bone"}]} +{"alt_ids":[],"definition":"The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair.","id":"HP:0009553","name":"Abnormality of the hairline","obsolete":false,"parents":["HP:0011361","HP:0100037"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the hairline"}]} +{"alt_ids":[],"definition":"An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones.","id":"HP:0009554","name":"Preauricular hair displacement","obsolete":false,"parents":["HP:0009553"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hair displacement, preauricular, towards lateral cheekbone"},{"scope":"EXACT","text":"Hair growing down to cheek"},{"scope":"EXACT","text":"Projection of scalp hair onto lateral cheek"}]} +{"alt_ids":[],"definition":"Underdevelopment of the pharynx.","id":"HP:0009555","name":"Hypoplasia of the pharynx","obsolete":false,"parents":["HP:0033151"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Decreased diameter of pharynx"},{"scope":"NARROW","text":"Decreased length of pharynx"},{"scope":"EXACT","text":"Decreased size of pharynx"},{"scope":"NARROW","text":"Decreased volume of pharynx"},{"scope":"NARROW","text":"Decreased width of pharynx"},{"scope":"RELATED","text":"Hypotrophic pharynx"},{"scope":"BROAD","text":"Small pharynx"},{"scope":"EXACT","text":"Underdevelopment of pharynx"}]} +{"alt_ids":[],"definition":"Absence of the tibia.","id":"HP:0009556","name":"Absent tibia","obsolete":false,"parents":["HP:0005772","HP:0009817"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent shankbone"},{"scope":"EXACT","text":"Absent shinbone"},{"scope":"EXACT","text":"Aplasia of the tibia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009557","name":"Aplasia/Hypoplasia of the distal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009542","HP:0009552"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small outermost index finger bone"},{"scope":"EXACT","text":"Absent/underdeveloped outermost index finger bone"}]} +{"alt_ids":[],"definition":"Increased width of the distal phalanx of the 2nd finger.","id":"HP:0009558","name":"Broad distal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009542","HP:0009547","HP:0009836"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide outermost bone of the index finger"}]} +{"alt_ids":[],"definition":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected.","id":"HP:0009559","name":"Bullet-shaped distal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009542","HP:0009548","HP:0009837"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped outermost bone of the index finger"}]} +{"alt_ids":[],"definition":"Curved appearance of the distal phalanx of the 2nd finger.","id":"HP:0009560","name":"Curved distal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009542","HP:0009549","HP:0009838"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved outermost bone of the index finger"}]} +{"alt_ids":["HP:0004108","HP:0004142"],"definition":"Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger.","id":"HP:0009561","name":"Osteolytic defects of the distal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009542","HP:0009550","HP:0009839"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acro-osteolysis of index finger"},{"scope":"EXACT","text":"Acro-osteolysis of terminal index finger phalanx"},{"scope":"EXACT","text":"Osteolytic defects of the outermost bone of the 2nd finger"}]} +{"alt_ids":[],"definition":"Uneven (irregular) increase in bone density of the distal phalanx of the second finger.","id":"HP:0009562","name":"Patchy sclerosis of the distal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009542","HP:0009551","HP:0009840","HP:0100900"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uneven increase in bone density in the outermost bone of the 2nd finger"}]} +{"alt_ids":["HP:0009567","HP:0009578"],"definition":"Bony fusion of the terminal/distal and middle phalanges of the 2nd finger.","id":"HP:0009563","name":"Distal second finger symphalangism","obsolete":false,"parents":["HP:0001204","HP:0009545"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused outermost and middle index finger bones"},{"scope":"EXACT","text":"Symphalangism of the distal and middle phalanges of the 2nd finger"}]} +{"alt_ids":[],"definition":"Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.","id":"HP:0009564","name":"Triangular shaped distal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009542","HP:0009546","HP:0009875"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped outermost bone of the 2nd finger"}]} +{"alt_ids":["HP:0004141","HP:0005748"],"definition":null,"id":"HP:0009565","name":"Aplasia of the distal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009535","HP:0009557","HP:0009881"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent outermost index finger bone"},{"scope":"EXACT","text":"Absent terminal index finger phalanx"}]} +{"alt_ids":["HP:0004145"],"definition":"Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger.","id":"HP:0009566","name":"Short distal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009536","HP:0009557","HP:0009882"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic terminal index finger phalanx"},{"scope":"EXACT","text":"Hypoplastic/small distal phalanx of the 2nd finger"},{"scope":"EXACT","text":"Short distal phalanx of the second finger"},{"scope":"EXACT","text":"Short outermost bone of the index finger"},{"scope":"EXACT","text":"Short terminal index finger phalanx"}]} +{"alt_ids":["HP:0006221"],"definition":null,"id":"HP:0009568","name":"Aplasia/Hypoplasia of the middle phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009543","HP:0009552"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/hypoplastic middle phalanx of 2nd finger"},{"scope":"EXACT","text":"Absent/small middle index finger bone"},{"scope":"EXACT","text":"Absent/underdeveloped middle index finger bone"},{"scope":"EXACT","text":"Hypoplastic/aplastic middle phalanx of index finger"}]} +{"alt_ids":[],"definition":"Increased width of the middle phalanx of the second finger.","id":"HP:0009569","name":"Broad middle phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009543","HP:0009547","HP:0009844"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad middle bone of the index finger"}]} +{"alt_ids":[],"definition":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected.","id":"HP:0009570","name":"Bullet-shaped middle phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009543","HP:0009548","HP:0009845"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped middle bone of index finger"}]} +{"alt_ids":[],"definition":"Curved appearance of the middle phalanx of the 2nd finger.","id":"HP:0009571","name":"Curved middle phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009543","HP:0009549","HP:0009846"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved middle bone of the index finger"}]} +{"alt_ids":["HP:0004134"],"definition":"Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger.","id":"HP:0009572","name":"Osteolytic defects of the middle phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009543","HP:0009550","HP:0009847"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lytic defects of middle index finger phalanx"}]} +{"alt_ids":[],"definition":"Uneven (irregular) increase in bone density of the middle phalanx of the second finger.","id":"HP:0009573","name":"Patchy sclerosis of the middle phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009543","HP:0009551","HP:0009848","HP:0100904"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uneven increase in bone density in the middle bone of the index finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009574","name":"obsolete Symphalangism of middle phalanx of 2nd finger","obsolete":true,"parents":[],"replaced_by":["HP:0009545"],"synonyms":[]} +{"alt_ids":[],"definition":"Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.","id":"HP:0009575","name":"Triangular shaped middle phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009543","HP:0009546","HP:0009850"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped middle bone of index finger"}]} +{"alt_ids":["HP:0005760"],"definition":"Absence of the middle phalanx of the index (2nd) finger.","id":"HP:0009576","name":"Absent middle phalanx of 2nd finger","obsolete":false,"parents":["HP:0009535","HP:0009568","HP:0010239"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent middle bone of index finger"},{"scope":"EXACT","text":"Absent middle phalanx of index finger"},{"scope":"EXACT","text":"Aplasia of the middle phalanx of the 2nd finger"}]} +{"alt_ids":["HP:0004133"],"definition":"Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.","id":"HP:0009577","name":"Short middle phalanx of the 2nd finger","obsolete":false,"parents":["HP:0005819","HP:0009536","HP:0009568"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brachymesophalangy II (finger)"},{"scope":"EXACT","text":"Hypoplastic middle index finger phalanx"},{"scope":"EXACT","text":"Hypoplastic/small middle phalanx of the 2nd finger"},{"scope":"EXACT","text":"Short middle bone of index finger"}]} +{"alt_ids":["HP:0009586"],"definition":"Fusion of the proximal and middle phalanges of the 2nd finger.","id":"HP:0009579","name":"Proximal second finger symphalangism","obsolete":false,"parents":["HP:0006152","HP:0009545"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused innermost and middle index finger bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009580","name":"Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009544","HP:0009552"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small innermost index finger bone"},{"scope":"EXACT","text":"Absent/underdeveloped innermost index finger bone"}]} +{"alt_ids":["HP:0004126"],"definition":"Increased width of the proximal phalanx of the 2nd finger.","id":"HP:0009581","name":"Broad proximal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009544","HP:0009547","HP:0009852"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide innermost bone of index finger"},{"scope":"EXACT","text":"Wide/broad proximal index finger phalanx"}]} +{"alt_ids":[],"definition":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected.","id":"HP:0009582","name":"Bullet-shaped proximal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009544","HP:0009548","HP:0009853"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped innermost bone of index finger"}]} +{"alt_ids":[],"definition":"Curved appearance of the proximal phalanx of the 2nd finger.","id":"HP:0009583","name":"Curved proximal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009544","HP:0009549","HP:0009854"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved innermost bone of index finger"}]} +{"alt_ids":["HP:0004123"],"definition":"Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger.","id":"HP:0009584","name":"Osteolytic defects of the proximal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009544","HP:0009550","HP:0009855"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lytic defects of proximal index finger phalanx"}]} +{"alt_ids":[],"definition":"Uneven (irregular) increase in bone density of the proximal phalanx of the second finger.","id":"HP:0009585","name":"Patchy sclerosis of the proximal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009544","HP:0009551","HP:0009856","HP:0100908"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uneven increase in bone density in innermost index finger bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009586","name":"obsolete Symphalangism affecting the proximal phalanx of the 2nd finger","obsolete":true,"parents":[],"replaced_by":["HP:0009579"],"synonyms":[]} +{"alt_ids":["HP:0004125"],"definition":"Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.","id":"HP:0009587","name":"Triangular shaped proximal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009544","HP:0009546","HP:0009858"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular proximal index finger phalanx"},{"scope":"EXACT","text":"Triangular shaped innermost bone of index finger"}]} +{"alt_ids":[],"definition":"A vestibular schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear.","id":"HP:0009588","name":"Vestibular schwannoma","obsolete":false,"parents":["HP:0009591","HP:0040096","HP:0100008"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acoustic Neuroma"},{"scope":"EXACT","text":"Vestibular Schwann cell tumor"},{"scope":"EXACT","text":"Vestibular Schwann cell tumour"},{"scope":"EXACT","text":"Vestibular neurilemmoma"},{"scope":"EXACT","text":"Vestibular neurinoma"},{"scope":"EXACT","text":"Vestibular neurolemmoma"}]} +{"alt_ids":[],"definition":"A bilateral vestibular schwannoma (acoustic neurinoma).","id":"HP:0009589","name":"Bilateral vestibular schwannoma","obsolete":false,"parents":["HP:0009588"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bilateral acoustic neuromas"}]} +{"alt_ids":[],"definition":"A unilateral vestibular schwannoma (acoustic neurinoma).","id":"HP:0009590","name":"Unilateral vestibular schwannoma","obsolete":false,"parents":["HP:0009588"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the vestibulocochlear nerve. The vestibulocochlear nerve consists of the vestibular and cochlear nerves, also known as cranial nerve eight (CN VIII). Each nerve has distinct nuclei within the brainstem. The vestibular nerve is primarily responsible for maintaining body balance and eye movements, while the cochlear nerve is responsible for hearing.","id":"HP:0009591","name":"Abnormal vestibulocochlear nerve morphology","obsolete":false,"parents":["HP:0001291"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal eighth cranial nerve morphology"},{"scope":"EXACT","text":"Abnormality of the VIIIth cranial nerve"},{"scope":"EXACT","text":"Abnormality of the vestibulocochlear nerve"}]} +{"alt_ids":[],"definition":"Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.","id":"HP:0009592","name":"Astrocytoma","obsolete":false,"parents":["HP:0009733","HP:0100707"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a peripheral schwannoma.","id":"HP:0009593","name":"Peripheral schwannoma","obsolete":false,"parents":["HP:0008069","HP:0100008"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina.","id":"HP:0009594","name":"Retinal hamartoma","obsolete":false,"parents":["HP:0000479","HP:0010568"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0009595","name":"obsolete Occasional neurofibromas","obsolete":true,"parents":[],"replaced_by":["HP:0001067"],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the proximal phalanx of the 2nd finger.","id":"HP:0009596","name":"Aplasia of the proximal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009535","HP:0009580","HP:0010242"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent innermost bone of index finger"}]} +{"alt_ids":["HP:0004124"],"definition":"Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger.","id":"HP:0009597","name":"Short proximal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009536","HP:0009580","HP:0010241"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic/small proximal phalanx of the 2nd finger"},{"scope":"EXACT","text":"Short proximal index finger phalanx"},{"scope":"EXACT","text":"Short proximal phalanx of the second finger"}]} +{"alt_ids":[],"definition":"Congenital fusion of the second metacarpal bone with the proximal phalanx of the second finger.","id":"HP:0009598","name":"Second ray metacarpophalangeal synostosis","obsolete":false,"parents":["HP:0005880","HP:0009705"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused innermost bone of index finger with 2nd long bone of hand"}]} +{"alt_ids":["HP:0004074"],"definition":"Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal.","id":"HP:0009599","name":"Abnormality of thumb epiphysis","obsolete":false,"parents":["HP:0001172","HP:0005920"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of end part of thumb long bone"},{"scope":"EXACT","text":"Abnormality of the epiphyses of the thumb"},{"scope":"EXACT","text":"Abnormality of thumb epiphyses"}]} +{"alt_ids":["HP:0004061","HP:0006043"],"definition":"Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the thumb joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected.","id":"HP:0009600","name":"Thumb contracture","obsolete":false,"parents":["HP:0001172"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Contracture of thumb"},{"scope":"EXACT","text":"Flexion deformities of thumbs"},{"scope":"EXACT","text":"Joint contractures of the thumb"},{"scope":"EXACT","text":"Thumb joint contracture"}]} +{"alt_ids":["HP:0002950","HP:0006225"],"definition":"Hypoplastic/small or absent thumb.","id":"HP:0009601","name":"Aplasia/Hypoplasia of the thumb","obsolete":false,"parents":["HP:0001172","HP:0006265"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent or hypoplastic thumbs"},{"scope":"EXACT","text":"Absent/hypoplastic thumb"},{"scope":"EXACT","text":"Absent/hypoplastic thumbs"},{"scope":"EXACT","text":"Absent/small thumb"},{"scope":"EXACT","text":"Absent/underdeveloped thumb"},{"scope":"EXACT","text":"Aplasia/hypoplasia of thumbs"},{"scope":"EXACT","text":"Aplastic/hypoplastic thumbs"},{"scope":"EXACT","text":"Hypoplastic to aplastic thumbs"},{"scope":"EXACT","text":"Hypoplastic/absent thumb"},{"scope":"EXACT","text":"Thumb aplasia/hypoplasia"}]} +{"alt_ids":["HP:0004063","HP:0004064"],"definition":"A structural anomaly of one or more phalanges of the thumb.","id":"HP:0009602","name":"Abnormality of thumb phalanx","obsolete":false,"parents":["HP:0001172"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the thumb bones"},{"scope":"EXACT","text":"Abnormality of thumb phalanges"}]} +{"alt_ids":["HP:0004062"],"definition":"Displacement of the thumb from its normal position.","id":"HP:0009603","name":"Deviation of the thumb","obsolete":false,"parents":["HP:0001172","HP:0004097"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal thumb placement"},{"scope":"EXACT","text":"Deviated thumb"},{"scope":"EXACT","text":"Displacement of the thumb"}]} +{"alt_ids":["HP:0004084","HP:0005784"],"definition":"Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side.","id":"HP:0009606","name":"Complete duplication of distal phalanx of the thumb","obsolete":false,"parents":["HP:0009612","HP:0009943","HP:0010001"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of outermost bone of the thumb"}]} +{"alt_ids":["HP:0004078"],"definition":"Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.","id":"HP:0009608","name":"Complete duplication of proximal phalanx of the thumb","obsolete":false,"parents":["HP:0009613","HP:0009943","HP:0010002"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of the innermost bone of the thumb"}]} +{"alt_ids":[],"definition":"Partail or complete duplication of the first metacarpal bone.","id":"HP:0009609","name":"Duplication of the 1st metacarpal","obsolete":false,"parents":["HP:0010006","HP:0010009"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial/complete duplication of the 1st long bone of hand"},{"scope":"EXACT","text":"Partial/complete duplication of the 1st metacarpal"}]} +{"alt_ids":["HP:0004086","HP:0005703","HP:0005827","HP:0005848","HP:0006090"],"definition":"Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones.","id":"HP:0009611","name":"Bifid distal phalanx of the thumb","obsolete":false,"parents":["HP:0009612","HP:0009944","HP:0010004"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bifid distal phalanx of thumb"},{"scope":"EXACT","text":"Bifid terminal phalanges of thumbs"},{"scope":"EXACT","text":"Bifid thumb distal phalanx"},{"scope":"EXACT","text":"Incipient distal thumb phalanx duplication"},{"scope":"EXACT","text":"Notched outermost bone of the thumb"},{"scope":"EXACT","text":"Notched outermost bone of thumb"},{"scope":"EXACT","text":"Notched terminal thumb phalanx"}]} +{"alt_ids":[],"definition":"Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side.","id":"HP:0009612","name":"Duplication of the distal phalanx of the thumb","obsolete":false,"parents":["HP:0009617","HP:0009883","HP:0009942"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Double thumb distal phalanges"},{"scope":"EXACT","text":"Duplicated terminal phalanx of thumb"},{"scope":"EXACT","text":"Duplication of distal thumb phalanx"},{"scope":"EXACT","text":"Duplication of terminal thumb phalanx"},{"scope":"EXACT","text":"Duplication of the outermost bone of the thumb"},{"scope":"EXACT","text":"Partial/complete duplication of the distal phalanx of the thumb"}]} +{"alt_ids":[],"definition":"Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.","id":"HP:0009613","name":"Duplication of the proximal phalanx of the thumb","obsolete":false,"parents":["HP:0009618","HP:0009942","HP:0010008"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Notched innermost bone of thumb"},{"scope":"EXACT","text":"Partial/complete duplication of the proximal phalanx of the thumb"}]} +{"alt_ids":[],"definition":"This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.","id":"HP:0009614","name":"Bifid proximal phalanx of the thumb","obsolete":false,"parents":["HP:0009613","HP:0009944","HP:0010005"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Notched thumb bone"}]} +{"alt_ids":[],"definition":"Complete duplication of the first metacarpal bone.","id":"HP:0009615","name":"Complete duplication of the first metacarpal","obsolete":false,"parents":["HP:0009609","HP:0010000"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of the first long bone of hand"}]} +{"alt_ids":[],"definition":"Partial duplication of the first metacarpal bone.","id":"HP:0009616","name":"Bifid first metacarpal","obsolete":false,"parents":["HP:0009609","HP:0010003"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Notched first long bone of hand"},{"scope":"EXACT","text":"partial duplication of the first metacarpal"}]} +{"alt_ids":["HP:0004081"],"definition":"Any anomaly of the distal phalanx of thumb.","id":"HP:0009617","name":"Abnormality of the distal phalanx of the thumb","obsolete":false,"parents":["HP:0009602"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of terminal thumb phalanx"},{"scope":"EXACT","text":"Abnormality of the outermost bone of the thumb"}]} +{"alt_ids":["HP:0004076"],"definition":"An anomaly of the shape or form of the proximal phalanx of the thumb.","id":"HP:0009618","name":"Abnormality of the proximal phalanx of the thumb","obsolete":false,"parents":["HP:0009602"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal innermost thumb bone"},{"scope":"EXACT","text":"Abnormality of proximal thumb phalanx"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009620","name":"obsolete Radial deviation of the thumb","obsolete":true,"parents":[],"replaced_by":["HP:0001234"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0009621","name":"obsolete Ulnar deviation of the thumb","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005755"],"definition":"Insertion of thumb at a more distal location than normal.","id":"HP:0009622","name":"Distally placed thumb","obsolete":false,"parents":["HP:0009603"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001170","HP:0005668"],"definition":"Proximal mislocalization of the thumb.","id":"HP:0009623","name":"Proximal placement of thumb","obsolete":false,"parents":["HP:0009603"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Attachment of thumb close to wrist"},{"scope":"EXACT","text":"Low implantation of the thumb"},{"scope":"EXACT","text":"Low-set thumb"},{"scope":"EXACT","text":"Proximally placed thumbs"}]} +{"alt_ids":[],"definition":"Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint.","id":"HP:0009624","name":"Carpometacarpal thumb joint contracture","obsolete":false,"parents":["HP:0009600"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Contracture of the carpometacarpal joint of the thumb"}]} +{"alt_ids":[],"definition":"Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis.","id":"HP:0009625","name":"Metacarpophalangeal thumb joint contracture","obsolete":false,"parents":["HP:0009600"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Contracture of the metacarpophalangeal joint of the thumb"}]} +{"alt_ids":["HP:0005697"],"definition":"Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis.","id":"HP:0009626","name":"Interphalangeal thumb joint contracture","obsolete":false,"parents":["HP:0001220","HP:0009600"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Contracture of the interphalangeal joint of the thumb"},{"scope":"EXACT","text":"Interphalangeal extension contractures of thumbs"}]} +{"alt_ids":[],"definition":"This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.","id":"HP:0009629","name":"Aplasia/Hypoplasia of the proximal phalanx of the thumb","obsolete":false,"parents":["HP:0009618","HP:0009658"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small innermost thumb bone"},{"scope":"EXACT","text":"Absent/underdeveloped innermost thumb bone"}]} +{"alt_ids":[],"definition":"Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.","id":"HP:0009630","name":"Broad proximal phalanx of the thumb","obsolete":false,"parents":["HP:0009618","HP:0009844","HP:0009852","HP:0011304"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad innermost thumb bone"}]} +{"alt_ids":[],"definition":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected.","id":"HP:0009631","name":"Bullet-shaped proximal phalanx of the thumb","obsolete":false,"parents":["HP:0009618","HP:0009652","HP:0009845"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped innermost thumb bone"}]} +{"alt_ids":[],"definition":"A deviation from the normal straight shape of the proximal phalanx of the thumb.","id":"HP:0009632","name":"Curved proximal phalanx of the thumb","obsolete":false,"parents":["HP:0009618","HP:0009653","HP:0009846","HP:0009854"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved innermost thumb bone"}]} +{"alt_ids":[],"definition":"Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb.","id":"HP:0009633","name":"Osteolytic defect of the proximal phalanx of the thumb","obsolete":false,"parents":["HP:0009618","HP:0009654","HP:0009847"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Osteolytic defects of the proximal phalanx of the thumb"}]} +{"alt_ids":[],"definition":"An uneven increase in bone density of the proximal phalanx of the thumb.","id":"HP:0009634","name":"Patchy sclerosis of the proximal phalanx of the thumb","obsolete":false,"parents":["HP:0009618","HP:0009655","HP:0009848","HP:0100913"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uneven increase in bone density in the innermost thumb bone"}]} +{"alt_ids":[],"definition":"Fusion of a phalanx of the thumb with another bone.","id":"HP:0009635","name":"Synostosis of thumb phalanx","obsolete":false,"parents":["HP:0009618"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fusion of thumb bone"}]} +{"alt_ids":["HP:0004080"],"definition":"Triangular shaped proximal phalanx of the thumb.","id":"HP:0009636","name":"Triangular shaped proximal phalanx of the thumb","obsolete":false,"parents":["HP:0009618","HP:0009657","HP:0009850","HP:0009858"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular innermost thumb bone"},{"scope":"EXACT","text":"Triangular proximal thumb phalanx"}]} +{"alt_ids":["HP:0004077"],"definition":"Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.","id":"HP:0009637","name":"Absent proximal phalanx of thumb","obsolete":false,"parents":["HP:0009629","HP:0009659","HP:0010239"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent innermost thumb bone"},{"scope":"EXACT","text":"Absent ossification/absent proximal thumb phalanx"},{"scope":"EXACT","text":"Aplasia of the proximal phalanx of the thumb"}]} +{"alt_ids":["HP:0004079","HP:0006073"],"definition":"Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.","id":"HP:0009638","name":"Short proximal phalanx of thumb","obsolete":false,"parents":["HP:0005819","HP:0009617","HP:0009629","HP:0009660"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic/small proximal phalanx of the thumb"},{"scope":"EXACT","text":"Short proximal phalanges of thumb"},{"scope":"EXACT","text":"Short proximal thumb bone"},{"scope":"EXACT","text":"Short proximal thumb phalanx"}]} +{"alt_ids":[],"definition":"Congenital fusion of the first metacarpal bone with the proximal phalanx of the thumb.","id":"HP:0009640","name":"First ray metacarpophalangeal synostosis","obsolete":false,"parents":["HP:0005880","HP:0009635","HP:0009703"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ankylosis of the metacarpophalangeal joint of the thumb"},{"scope":"EXACT","text":"Fusion of the innermost bone of the thumb with the 1st long bone of hand"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009641","name":"Aplasia/Hypoplasia of the distal phalanx of the thumb","obsolete":false,"parents":["HP:0009617"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small outermost thumb bone"},{"scope":"EXACT","text":"Absent/underdeveloped outermost thumb bone"}]} +{"alt_ids":["HP:0004088","HP:0006198"],"definition":"Increased width of the distal phalanx of thumb.","id":"HP:0009642","name":"Broad distal phalanx of the thumb","obsolete":false,"parents":["HP:0009617","HP:0009836","HP:0011304"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad outermost bone of the thumb"},{"scope":"EXACT","text":"Broad terminal thumb phalanx"},{"scope":"EXACT","text":"Wide distal phalanx of thumb"},{"scope":"EXACT","text":"Wide outermost bone of thumb"}]} +{"alt_ids":[],"definition":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected.","id":"HP:0009643","name":"Bullet-shaped distal phalanx of the thumb","obsolete":false,"parents":["HP:0009617","HP:0009652","HP:0009837"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped outermost bone of the thumb"}]} +{"alt_ids":[],"definition":"A deviation from the normal straight shape of the distal phalanx of the thumb.","id":"HP:0009644","name":"Curved distal phalanx of the thumb","obsolete":false,"parents":["HP:0009617","HP:0009653","HP:0009838"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved outermost bone of the thumb"}]} +{"alt_ids":[],"definition":"Dissolution or degeneration of bone tissue of the distal phalanx of the thumb.","id":"HP:0009645","name":"Osteolytic defect of the distal phalanx of the thumb","obsolete":false,"parents":["HP:0009617","HP:0009654","HP:0009839"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Osteolytic defects of the distal phalanx of the thumb"},{"scope":"EXACT","text":"Osteolytic defects of the outermost bone of the thumb"}]} +{"alt_ids":[],"definition":"An uneven increase in bone density of the distal phalanx of the thumb.","id":"HP:0009646","name":"Patchy sclerosis of the distal phalanx of the thumb","obsolete":false,"parents":["HP:0009617","HP:0009655","HP:0009840","HP:0100912"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uneven increase in bone density in the outermost bone of the thumb"}]} +{"alt_ids":[],"definition":"Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.","id":"HP:0009648","name":"Triangular shaped distal phalanx of the thumb","obsolete":false,"parents":["HP:0009617","HP:0009657","HP:0009875"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped outermost bone of the thumb"}]} +{"alt_ids":["HP:0004082"],"definition":"Absence of the distal/terminal phalanx of the thumb.","id":"HP:0009649","name":"Aplasia of the distal phalanx of the thumb","obsolete":false,"parents":["HP:0009641","HP:0009659","HP:0009881"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of the outermost bone of the thumb"},{"scope":"EXACT","text":"Absent ossification/absent terminal thumb phalanx"},{"scope":"EXACT","text":"Aplasia of the outermost bone of the thumb"}]} +{"alt_ids":["HP:0004085","HP:0004087"],"definition":"Hypoplastic (short) distal phalanx of the thumb.","id":"HP:0009650","name":"Short distal phalanx of the thumb","obsolete":false,"parents":["HP:0009641","HP:0009660","HP:0009882"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic terminal thumb phalanx"},{"scope":"EXACT","text":"Hypoplastic/small distal phalanx of the thumb"},{"scope":"EXACT","text":"Short outermost bone of the thumb"},{"scope":"EXACT","text":"Short terminal thumb phalanx"},{"scope":"EXACT","text":"Short thumb terminal phalanx"},{"scope":"EXACT","text":"Small terminal thumb phalanx"}]} +{"alt_ids":[],"definition":"An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.","id":"HP:0009652","name":"Bullet-shaped thumb phalanx","obsolete":false,"parents":["HP:0009602","HP:0009769"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped phalanges of the thumb"},{"scope":"EXACT","text":"Bullet-shaped thumb bone"}]} +{"alt_ids":[],"definition":"A deviation from the normal straight shape of a thumb phalanx.","id":"HP:0009653","name":"Curved thumb phalanx","obsolete":false,"parents":["HP:0004095","HP:0009602","HP:0009770"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved phalanges of the thumb"},{"scope":"EXACT","text":"Curved thumb bone"}]} +{"alt_ids":[],"definition":"Dissolution or degeneration of bone tissue of one or more phalanges of the thumb.","id":"HP:0009654","name":"Osteolytic defect of thumb phalanx","obsolete":false,"parents":["HP:0009602","HP:0009771"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Osteolytic defects of the phalanges of the thumb"}]} +{"alt_ids":[],"definition":"An uneven increase in bone density of one or more of the phalanges of the thumb.","id":"HP:0009655","name":"Patchy sclerosis of thumb phalanx","obsolete":false,"parents":["HP:0009772","HP:0100922"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Patchy sclerosis of the phalanges of the thumb"},{"scope":"EXACT","text":"Uneven increase in bone density in thumb bone"}]} +{"alt_ids":["HP:0004068","HP:0009639","HP:0009647"],"definition":"Congenital fusion (ankylosis) of the interphalangeal joint of the thumb.","id":"HP:0009656","name":"Thumb symphalangism","obsolete":false,"parents":["HP:0001204","HP:0009617","HP:0009635"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused thumb bones"},{"scope":"EXACT","text":"Fused thumb phalanges"},{"scope":"EXACT","text":"Symphalangism of the distal and proximal phalanges of the thumb"}]} +{"alt_ids":["HP:0004072"],"definition":"Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle.","id":"HP:0009657","name":"Triangular shaped thumb phalanx","obsolete":false,"parents":["HP:0009602"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped phalanges of the thumb"},{"scope":"EXACT","text":"Triangular shaped thumb bone"},{"scope":"EXACT","text":"Triangular thumb phalanges"}]} +{"alt_ids":["HP:0005834"],"definition":null,"id":"HP:0009658","name":"Aplasia/Hypoplasia of the phalanges of the thumb","obsolete":false,"parents":["HP:0009602","HP:0009767"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small thumb bones"},{"scope":"EXACT","text":"Absent/underdeveloped thumb bones"}]} +{"alt_ids":["HP:0004065"],"definition":"The absence of a phalangeal segment of a thumb.","id":"HP:0009659","name":"Partial absence of thumb","obsolete":false,"parents":["HP:0009601","HP:0009658"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Aplasia of the phalanges of the thumb"},{"scope":"EXACT","text":"Partial absence of thumb"}]} +{"alt_ids":["HP:0004069","HP:0004071"],"definition":"Hypoplastic (short) thumb phalanx.","id":"HP:0009660","name":"Short phalanx of the thumb","obsolete":false,"parents":["HP:0009658","HP:0009778"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic thumb phalanges"},{"scope":"EXACT","text":"Hypoplastic/small phalanges of the thumb"},{"scope":"EXACT","text":"Short thumb bone"},{"scope":"EXACT","text":"Short thumb phalanges"}]} +{"alt_ids":["HP:0004089"],"definition":"Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx.","id":"HP:0009662","name":"Abnormality of the epiphysis of the distal phalanx of the thumb","obsolete":false,"parents":["HP:0009599","HP:0009617","HP:0010243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of terminal thumb epiphysis"},{"scope":"EXACT","text":"Abnormality of the end part of the outermost bone of the thumb"}]} +{"alt_ids":[],"definition":"This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.","id":"HP:0009663","name":"Abnormality of the epiphysis of the proximal phalanx of the thumb","obsolete":false,"parents":["HP:0009599","HP:0009618","HP:0010244"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of end part of thumb innermost long bone"}]} +{"alt_ids":[],"definition":"Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.","id":"HP:0009664","name":"Absent epiphysis of the proximal phalanx of the thumb","obsolete":false,"parents":["HP:0009663","HP:0009686","HP:0010257"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of thumb innermost long bone"}]} +{"alt_ids":[],"definition":"An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.","id":"HP:0009665","name":"Bracket epiphysis of the proximal phalanx of the thumb","obsolete":false,"parents":["HP:0009663","HP:0009687","HP:0010258"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of thumb innermost long bone"}]} +{"alt_ids":[],"definition":"A cone-shaped appearance of the epiphysis of the proximal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.","id":"HP:0009666","name":"Cone-shaped epiphysis of the proximal phalanx of the thumb","obsolete":false,"parents":["HP:0009663","HP:0009688","HP:0010259"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of thumb innermost long bone"}]} +{"alt_ids":[],"definition":"Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.","id":"HP:0009667","name":"Enlarged epiphysis of the proximal phalanx of the thumb","obsolete":false,"parents":["HP:0009663","HP:0009689","HP:0010260"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of thumb innermost long bone"}]} +{"alt_ids":[],"definition":"Epiphysis of the proximal phalanx of the thumb having multiple bony fragments.","id":"HP:0009668","name":"Fragmentation of the epiphysis of the proximal phalanx of the thumb","obsolete":false,"parents":["HP:0009663","HP:0009690","HP:0010261"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of end part of thumb innermost long bone"}]} +{"alt_ids":[],"definition":"Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.","id":"HP:0009669","name":"Irregular epiphysis of the proximal phalanx of the thumb","obsolete":false,"parents":["HP:0009663","HP:0009691","HP:0010262"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of thumb innermost long bone"}]} +{"alt_ids":[],"definition":"Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.","id":"HP:0009670","name":"Ivory epiphysis of the proximal phalanx of the thumb","obsolete":false,"parents":["HP:0009663","HP:0009692","HP:0010263"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the innermost bone of the thumb"}]} +{"alt_ids":[],"definition":"A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb.","id":"HP:0009671","name":"Pseudoepiphysis of the proximal phalanx of the thumb","obsolete":false,"parents":["HP:0009663","HP:0009693","HP:0010264"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms.","id":"HP:0009672","name":"Small epiphysis of the proximal phalanx of the thumb","obsolete":false,"parents":["HP:0009663","HP:0009694","HP:0010265"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of thumb innermost long bone"}]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.","id":"HP:0009673","name":"Stippling of the epiphysis of the proximal phalanx of the thumb","obsolete":false,"parents":["HP:0009663","HP:0009695","HP:0010266"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in end part of thumb innermost long bone"}]} +{"alt_ids":[],"definition":"A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.","id":"HP:0009674","name":"Triangular epiphysis of the proximal phalanx of the thumb","obsolete":false,"parents":["HP:0009663","HP:0009696","HP:0010267"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular end part of thumb innermost long bone"}]} +{"alt_ids":[],"definition":"Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb.","id":"HP:0009675","name":"Absent epiphysis of the distal phalanx of the thumb","obsolete":false,"parents":["HP:0009662","HP:0009686","HP:0010246"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of thumb outermost long bone"}]} +{"alt_ids":[],"definition":"An abnormality of the distal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.","id":"HP:0009676","name":"Bracket epiphysis of the distal phalanx of the thumb","obsolete":false,"parents":["HP:0009662","HP:0009687","HP:0010247"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of thumb outermost long bone"}]} +{"alt_ids":["HP:0004091"],"definition":"A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.","id":"HP:0009677","name":"Cone-shaped epiphysis of the distal phalanx of the thumb","obsolete":false,"parents":["HP:0009662","HP:0009688","HP:0010248"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of thumb outermost long bone"},{"scope":"EXACT","text":"Cone-shaped terminal thumb phalanx epiphysis"}]} +{"alt_ids":["HP:0004092"],"definition":"Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.","id":"HP:0009678","name":"Enlarged epiphysis of the distal phalanx of the thumb","obsolete":false,"parents":["HP:0009662","HP:0009689","HP:0010249"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of thumb outermost long bone"},{"scope":"EXACT","text":"Large terminal thumb phalanx epiphysis"}]} +{"alt_ids":[],"definition":"Epiphysis of the distal phalanx of the thumb having multiple bony fragments.","id":"HP:0009679","name":"Fragmentation of the epiphysis of the distal phalanx of the thumb","obsolete":false,"parents":["HP:0009662","HP:0009690","HP:0010250"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of end part thumb outermost long bone"}]} +{"alt_ids":[],"definition":"Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb.","id":"HP:0009680","name":"Irregular epiphysis of the distal phalanx of the thumb","obsolete":false,"parents":["HP:0009662","HP:0009691","HP:0010251"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of thumb outermost bone"}]} +{"alt_ids":[],"definition":"Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.","id":"HP:0009681","name":"Ivory epiphysis of the distal phalanx of the thumb","obsolete":false,"parents":["HP:0009662","HP:0009692","HP:0010252"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the outermost bone of the thumb"}]} +{"alt_ids":[],"definition":"A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb.","id":"HP:0009682","name":"Pseudoepiphysis of the distal phalanx of the thumb","obsolete":false,"parents":["HP:0009662","HP:0009693","HP:0010253"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pseudoepiphysis of the outermost bone of the thumb"}]} +{"alt_ids":[],"definition":"Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.","id":"HP:0009683","name":"Small epiphysis of the distal phalanx of the thumb","obsolete":false,"parents":["HP:0009662","HP:0009694","HP:0010254"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of thumb outermost bone"}]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb.","id":"HP:0009684","name":"Stippling of the epiphysis of the distal phalanx of the thumb","obsolete":false,"parents":["HP:0009662","HP:0009695","HP:0010255"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in the end part of the outermost thumb bone"}]} +{"alt_ids":[],"definition":"A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.","id":"HP:0009685","name":"Triangular epiphysis of the distal phalanx of the thumb","obsolete":false,"parents":["HP:0009662","HP:0009696","HP:0010256"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular end part of thumb outermost bone"},{"scope":"EXACT","text":"Triangular epiphysis of the outermost bone of the thumb"}]} +{"alt_ids":[],"definition":"Absence of one or more epiphyses of the thumb.","id":"HP:0009686","name":"Absent epiphyses of the thumb","obsolete":false,"parents":["HP:0009599","HP:0010228"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.","id":"HP:0009687","name":"Bracket epiphyses of the thumb","obsolete":false,"parents":["HP:0009599","HP:0010229"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of the thumb bone"}]} +{"alt_ids":["HP:0004075"],"definition":"A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.","id":"HP:0009688","name":"Cone-shaped epiphysis of the thumb","obsolete":false,"parents":["HP:0009599","HP:0010230"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of thumb long bone"},{"scope":"EXACT","text":"Cone-shaped epiphyses of the thumb"},{"scope":"EXACT","text":"Cone-shaped thumb epiphyses"}]} +{"alt_ids":[],"definition":"Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms.","id":"HP:0009689","name":"Enlarged thumb epiphysis","obsolete":false,"parents":["HP:0009599","HP:0010231"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of thumb long bone"},{"scope":"EXACT","text":"Enlarged epiphyses of the thumb"}]} +{"alt_ids":[],"definition":"Epiphysis of the thumb having multiple bony fragments.","id":"HP:0009690","name":"Fragmentation of thumb epiphysis","obsolete":false,"parents":["HP:0009599","HP:0010232"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of end part of long bone of thumb"},{"scope":"EXACT","text":"Fragmentation of the epiphyses of the thumb"}]} +{"alt_ids":[],"definition":"Uneven radiographic opacity of the one or more epiphyses of the thumb.","id":"HP:0009691","name":"Irregular thumb epiphysis","obsolete":false,"parents":["HP:0009599","HP:0010233"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of thumb long bone"},{"scope":"EXACT","text":"Irregular epiphyses of the thumb"}]} +{"alt_ids":[],"definition":"Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.","id":"HP:0009692","name":"Ivory epiphysis of the thumb","obsolete":false,"parents":["HP:0009599","HP:0010234","HP:0100922"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the thumb"},{"scope":"EXACT","text":"Ivory epiphyses of the thumb"}]} +{"alt_ids":[],"definition":"A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb.","id":"HP:0009693","name":"Pseudoepiphysis of the thumb","obsolete":false,"parents":["HP:0009599","HP:0010235"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pseudoepiphyses of the thumb"}]} +{"alt_ids":[],"definition":"Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms.","id":"HP:0009694","name":"Small thumb epiphysis","obsolete":false,"parents":["HP:0009599","HP:0010236"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of thumb long bone"},{"scope":"EXACT","text":"Small epiphyses of the thumb"}]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb.","id":"HP:0009695","name":"Stippling of thumb epiphysis","obsolete":false,"parents":["HP:0009599","HP:0010237"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in end part of thumb bone"},{"scope":"EXACT","text":"Stippling of the epiphyses of the thumb"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009696","name":"Triangular epiphyses of the thumb","obsolete":false,"parents":["HP:0009599","HP:0010238"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular end part of the thumb bone"}]} +{"alt_ids":[],"definition":"Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers.","id":"HP:0009697","name":"Contracture of the distal interphalangeal joint of the fingers","obsolete":false,"parents":["HP:0001220"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004282","HP:0006082"],"definition":null,"id":"HP:0009699","name":"Osteolytic defects of the hand bones","obsolete":false,"parents":["HP:0005922","HP:0045039"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lytic defects of hand bones"}]} +{"alt_ids":["HP:0006187","HP:0006258","HP:0009773","HP:0009849","HP:0009872"],"definition":"An abnormal union between bones or parts of bones of the fingers. The synonymous term \"symphalangism of the hand\" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as \"Symphalangism\" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as \"bony\" Syndactyly.","id":"HP:0009700","name":"Finger symphalangism","obsolete":false,"parents":["HP:0004278","HP:0005918","HP:0100262"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused finger bones"},{"scope":"EXACT","text":"Symphalangism of the hand"},{"scope":"EXACT","text":"Synostosis involving bones of the fingers"}]} +{"alt_ids":["HP:0005915","HP:0006041"],"definition":"Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx).","id":"HP:0009701","name":"Metacarpal synostosis","obsolete":false,"parents":["HP:0004278","HP:0005916","HP:0100265"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused long bones of hand"},{"scope":"EXACT","text":"Synostosis involving metacarpal bones"},{"scope":"EXACT","text":"Synostosis involving the metacarpal bones"}]} +{"alt_ids":["HP:0001192","HP:0005799"],"definition":"Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).","id":"HP:0009702","name":"Carpal synostosis","obsolete":false,"parents":["HP:0001191","HP:0004278","HP:0100266"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Carpal bone fusion"},{"scope":"EXACT","text":"Carpal fusion"},{"scope":"EXACT","text":"Fused carpal bones"},{"scope":"BROAD","text":"Fused wrist bones"},{"scope":"EXACT","text":"Fusion of carpal bones"},{"scope":"EXACT","text":"Synostosis involving the carpal bones"}]} +{"alt_ids":["HP:0005614","HP:0010032"],"definition":"Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.","id":"HP:0009703","name":"Synostosis involving the 1st metacarpal","obsolete":false,"parents":["HP:0009701","HP:0010009"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"First metacarpophalangeal joint synostosis"},{"scope":"EXACT","text":"Fusion involving 1st long bone of hand"},{"scope":"EXACT","text":"Symphalangism affecting the 1st metacarpal"}]} +{"alt_ids":[],"definition":"Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter.","id":"HP:0009704","name":"Chronic CSF lymphocytosis","obsolete":false,"parents":["HP:0200149"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic cerebrospinal fluid lymphocytosis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009705","name":"Synostosis involving the 2nd metacarpal","obsolete":false,"parents":["HP:0009701","HP:0010010"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fusion involving the 2nd long bone of hand"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009706","name":"Synostosis involving the 3rd metacarpal","obsolete":false,"parents":["HP:0009701","HP:0010011"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fusion involving the 3rd long bone of hand"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009707","name":"Synostosis involving the 4th metacarpal","obsolete":false,"parents":["HP:0009701","HP:0010012"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fusion involving the 4th long bone of hand"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009708","name":"Synostosis involving the 5th metacarpal","obsolete":false,"parents":["HP:0009701","HP:0010013"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fusion involving the 5th long bone of hand"}]} +{"alt_ids":[],"definition":"Increased concentration of interferon alpha in the cerebrospinal fluid (CSF).","id":"HP:0009709","name":"Increased CSF interferon alpha","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks.","id":"HP:0009710","name":"Chilblains","obsolete":false,"parents":["HP:0011123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chilblain lesions"}]} +{"alt_ids":[],"definition":"A benign vascular tumor of the retina without any neoplastic characteristics.","id":"HP:0009711","name":"Retinal capillary hemangioma","obsolete":false,"parents":["HP:0001028","HP:0009594","HP:0010797"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A hemangioblastoma of the spinal cord.","id":"HP:0009713","name":"Spinal hemangioblastoma","obsolete":false,"parents":["HP:0010302","HP:0010797"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the epididymis.","id":"HP:0009714","name":"Abnormal epididymis morphology","obsolete":false,"parents":["HP:0000022"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the epididymis"}]} +{"alt_ids":["HP:0030422"],"definition":"A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.","id":"HP:0009715","name":"Papillary cystadenoma of the epididymis","obsolete":false,"parents":["HP:0009714","HP:0030421"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis.","id":"HP:0009716","name":"Subependymal nodules","obsolete":false,"parents":["HP:0002118","HP:0009731"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients.","id":"HP:0009717","name":"Cortical tubers","obsolete":false,"parents":["HP:0002538","HP:0009731"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis.","id":"HP:0009718","name":"Subependymal giant-cell astrocytoma","obsolete":false,"parents":["HP:0009592"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hypomelanotic macules (\"ash leaf spots\") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis.","id":"HP:0009719","name":"Hypomelanotic macule","obsolete":false,"parents":["HP:0001010","HP:0020073"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypomelanotic macules"}]} +{"alt_ids":[],"definition":"The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin.","id":"HP:0009720","name":"Adenoma sebaceum","obsolete":false,"parents":["HP:0008069","HP:0010615","HP:0011799"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Facial angiofibromas"},{"scope":"EXACT","text":"Sebaceous adenoma"},{"scope":"RELATED","text":"Sebaceous adenomas"}]} +{"alt_ids":[],"definition":"A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled. The word shagreen refers to a type of roughened untanned leather.","id":"HP:0009721","name":"Shagreen patch","obsolete":false,"parents":["HP:0100898"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of small depressions in the dental enamel.","id":"HP:0009722","name":"Dental enamel pits","obsolete":false,"parents":["HP:0000682"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dental enamel pits"},{"scope":"EXACT","text":"Dental enamel pitting"},{"scope":"EXACT","text":"Pitting of tooth enamel"},{"scope":"EXACT","text":"Tooth enamel pits"}]} +{"alt_ids":[],"definition":"A lesion located beneath a fingernail or toenail.","id":"HP:0009723","name":"Abnormal subungual morphology","obsolete":false,"parents":["HP:0001597"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the subungual region"}]} +{"alt_ids":[],"definition":"The presence of fibromata beneath finger or toenails.","id":"HP:0009724","name":"Subungual fibromas","obsolete":false,"parents":["HP:0009723","HP:0010614"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Subungual fibroma"}]} +{"alt_ids":[],"definition":"The presence of a neoplasm of the urinary bladder.","id":"HP:0009725","name":"Bladder neoplasm","obsolete":false,"parents":["HP:0010786"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bladder cancer"},{"scope":"RELATED","text":"Bladder tumor"},{"scope":"RELATED","text":"Bladder tumour"}]} +{"alt_ids":["HP:0005933"],"definition":"The presence of a neoplasm of the kidney.","id":"HP:0009726","name":"Renal neoplasm","obsolete":false,"parents":["HP:0000077","HP:0010786"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Kidney cancer"},{"scope":"EXACT","text":"Neoplasia of the kidneys"},{"scope":"RELATED","text":"Renal neoplasia"},{"scope":"EXACT","text":"Renal tumors"},{"scope":"EXACT","text":"Renal tumours"}]} +{"alt_ids":[],"definition":"Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disk diameter in size and tending to be located in the midperiphery of the retina.","id":"HP:0009727","name":"Achromatic retinal patches","obsolete":false,"parents":["HP:0007894"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Punched out areas of chorioretinal hypopigmentation"}]} +{"alt_ids":[],"definition":"A benign or malignant neoplasm (tumor) originating in striated muscle, either skeletal muscle or cardiac muscle.","id":"HP:0009728","name":"Neoplasm of striated muscle","obsolete":false,"parents":["HP:0003011","HP:0011793"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tumors of striated muscle"},{"scope":"EXACT","text":"Tumours of striated muscle"}]} +{"alt_ids":[],"definition":"A benign tumor of cardiac striated muscle.","id":"HP:0009729","name":"Cardiac rhabdomyoma","obsolete":false,"parents":["HP:0009730","HP:0100544"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign tumor of striated muscle.","id":"HP:0009730","name":"Rhabdomyoma","obsolete":false,"parents":["HP:0009728"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a hamartoma of the cerebrum.","id":"HP:0009731","name":"Cerebral hamartoma","obsolete":false,"parents":["HP:0010566","HP:0100835"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cerebral hamartomata"}]} +{"alt_ids":[],"definition":"A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure.","id":"HP:0009732","name":"Plexiform neurofibroma","obsolete":false,"parents":["HP:0001067"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes).","id":"HP:0009733","name":"Glioma","obsolete":false,"parents":["HP:0030063","HP:0100705","HP:0100836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A glioma originating in the optic nerve or optic chiasm.","id":"HP:0009734","name":"Optic nerve glioma","obsolete":false,"parents":["HP:0009733"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Optic glioma"}]} +{"alt_ids":["HP:0007077"],"definition":"A neurofibroma (benign peripheral nerve sheath tumor) localized in the spine.","id":"HP:0009735","name":"Spinal neurofibroma","obsolete":false,"parents":["HP:0034761"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spinal neurofibromas"}]} +{"alt_ids":[],"definition":"Pseudarthrosis, or \"false joint\" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life.","id":"HP:0009736","name":"Tibial pseudarthrosis","obsolete":false,"parents":["HP:0002992","HP:0005864"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tibial pseudoarthrosis"}]} +{"alt_ids":[],"definition":"The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..","id":"HP:0009737","name":"Lisch nodules","obsolete":false,"parents":["HP:0010568","HP:0034819"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Iris hamartomas"}]} +{"alt_ids":[],"definition":"An abnormality of the antihelix.","id":"HP:0009738","name":"Abnormal antihelix morphology","obsolete":false,"parents":["HP:0000377"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal antehelix"},{"scope":"EXACT","text":"Abnormal anthelix"},{"scope":"EXACT","text":"Abnormal antihelix"}]} +{"alt_ids":[],"definition":"Developmental hypoplasia of the antihelix.","id":"HP:0009739","name":"Hypoplasia of the antihelix","obsolete":false,"parents":["HP:0009738"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic antihelix"}]} +{"alt_ids":[],"definition":"Absence of the parotid gland.","id":"HP:0009740","name":"Aplasia of the parotid gland","obsolete":false,"parents":["HP:0000197"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormally small parotid gland"},{"scope":"RELATED","text":"Absence of the parotid gland"},{"scope":"RELATED","text":"Hypoplasia of parotid gland"},{"scope":"EXACT","text":"Underdevelopment of parotid gland"}]} +{"alt_ids":[],"definition":"Nephrosclerosis refers to thickening or scarring (\"sclerosis\") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries.","id":"HP:0009741","name":"Nephrosclerosis","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Scarring of kidney arteries"},{"scope":"EXACT","text":"Thickening of kidney artiries"}]} +{"alt_ids":[],"definition":"Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity.","id":"HP:0009742","name":"Stiff shoulders","obsolete":false,"parents":["HP:0001387","HP:0033129"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Stiff shoulders"}]} +{"alt_ids":[],"definition":"Double rows of eyelashes.","id":"HP:0009743","name":"Distichiasis","obsolete":false,"parents":["HP:0008496"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Distichiasis of eyelid eyelashes"}]} +{"alt_ids":[],"definition":"An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord.","id":"HP:0009744","name":"Abnormal spinal dura mater morphology","obsolete":false,"parents":["HP:0010303","HP:0010652"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the spinal dura mater"}]} +{"alt_ids":[],"definition":"Presence of arachnoid cysts of the spinal canal extradurally in the epidural space.","id":"HP:0009745","name":"Spinal arachnoid cyst","obsolete":false,"parents":["HP:0010303","HP:0100702"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Epidural arachnoid cysts of the spinal canal"}]} +{"alt_ids":[],"definition":"Abnormally increased thickness of the nasal septum.","id":"HP:0009746","name":"Thick nasal septum","obsolete":false,"parents":["HP:0000419"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad nasal septum"},{"scope":"EXACT","text":"Broad septum of nose"},{"scope":"EXACT","text":"Thick nasal septum"},{"scope":"EXACT","text":"Thick septum of nose"},{"scope":"EXACT","text":"Wide nasal septum"},{"scope":"EXACT","text":"Wide septum of nose"}]} +{"alt_ids":[],"definition":"Abnormally increased hair growth in the lumbosacral region.","id":"HP:0009747","name":"Lumbosacral hirsutism","obsolete":false,"parents":["HP:0009889"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004449","HP:0004456"],"definition":"Increased volume of the earlobe, that is, abnormally prominent ear lobules.","id":"HP:0009748","name":"Large earlobe","obsolete":false,"parents":["HP:0000363"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fleshy earlobe"},{"scope":"EXACT","text":"Fleshy earlobes"},{"scope":"EXACT","text":"Large earlobe"},{"scope":"EXACT","text":"Prominent ear lobes"},{"scope":"EXACT","text":"Prominent ear lobules"}]} +{"alt_ids":[],"definition":"Absence of the pectoralis major muscle.","id":"HP:0009751","name":"Aplasia of the pectoralis major muscle","obsolete":false,"parents":["HP:0005258","HP:0100854"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent pectoralis major muscle"}]} +{"alt_ids":[],"definition":"A bony defect in the skull base.","id":"HP:0009752","name":"Cleft in skull base","obsolete":false,"parents":["HP:0002693"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cleft in cranial base"},{"scope":"EXACT","text":"Cleft in skull base"}]} +{"alt_ids":[],"definition":"Complete or nearly complete soft tissue fusion of the alveolar ridges.","id":"HP:0009754","name":"Fibrous syngnathia","obsolete":false,"parents":["HP:0000277","HP:0006477"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Alveolar synechiae"},{"scope":"EXACT","text":"Fusion of the alveolar ridges"}]} +{"alt_ids":[],"definition":"Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.","id":"HP:0009755","name":"Ankyloblepharon","obsolete":false,"parents":["HP:0000492"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Adhesion of eyelids"},{"scope":"EXACT","text":"Ankyloblepharon filiforme adnatum"},{"scope":"EXACT","text":"Eyelid synechiae"},{"scope":"EXACT","text":"Eyelids stuck together"},{"scope":"EXACT","text":"Fused eyelid"}]} +{"alt_ids":[],"definition":"A pterygium (or pterygia) occurring in the popliteal region (the back of the knee).","id":"HP:0009756","name":"Popliteal pterygium","obsolete":false,"parents":["HP:0001059"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A pterygium (or pterygia) in the intercrural (groin) region.","id":"HP:0009757","name":"Intercrural pterygium","obsolete":false,"parents":["HP:0001059"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome.","id":"HP:0009758","name":"Pyramidal skinfold extending from the base to the top of the nails","obsolete":false,"parents":["HP:0001597"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pterygia affecting the neck.","id":"HP:0009759","name":"Neck pterygia","obsolete":false,"parents":["HP:0001059"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neck pterygium"}]} +{"alt_ids":[],"definition":"Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric.","id":"HP:0009760","name":"Antecubital pterygium","obsolete":false,"parents":["HP:0001059"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pterygium cubitale"},{"scope":"EXACT","text":"Webbed elbow"}]} +{"alt_ids":[],"definition":"Anterior schisis (cleft or cleavage) of vertebral bodies.","id":"HP:0009761","name":"Anterior clefting of vertebral bodies","obsolete":false,"parents":["HP:0008428"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excessive wrinkling of the skin of the face.","id":"HP:0009762","name":"Facial wrinkling","obsolete":false,"parents":["HP:0100678"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Facial wrinkling"}]} +{"alt_ids":[],"definition":"Chronic pain in the limbs with no clear focal etiology.","id":"HP:0009763","name":"Limb pain","obsolete":false,"parents":["HP:0011843","HP:0012531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Limb pain"},{"scope":"RELATED","text":"Pain in extremities"}]} +{"alt_ids":["HP:0009766"],"definition":"Columella extending inferior to the level of the nasal base, when viewed from the side.","id":"HP:0009765","name":"Low hanging columella","obsolete":false,"parents":["HP:0009929"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Columella extends below the ala nasi"},{"scope":"EXACT","text":"Columella, low"},{"scope":"EXACT","text":"Columella, low hanging"},{"scope":"EXACT","text":"Extension of the columella below the ala nasi"},{"scope":"EXACT","text":"Low-hanging columella"},{"scope":"RELATED","text":"Prominent columella"},{"scope":"RELATED","text":"Rounded columella"}]} +{"alt_ids":["HP:0006056","HP:0006100","HP:0009801"],"definition":"Small or missing phalangeal bones of the fingers of the hand.","id":"HP:0009767","name":"Aplasia/Hypoplasia of the phalanges of the hand","obsolete":false,"parents":["HP:0005918"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aplastic/hypoplastic phalanges"},{"scope":"EXACT","text":"Aplastic/hypoplastic phalanges of the hand"},{"scope":"EXACT","text":"Hypoplastic/absent phalanges"}]} +{"alt_ids":["HP:0001246","HP:0006260"],"definition":"Increased width of the phalanges of the hand.","id":"HP:0009768","name":"Broad phalanges of the hand","obsolete":false,"parents":["HP:0001500","HP:0005918","HP:0006009","HP:0040070"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide hand bones"},{"scope":"EXACT","text":"Widening of phalanges of the hand"}]} +{"alt_ids":["HP:0004270","HP:0006139"],"definition":"The presence of short and wide phalanges which taper distally (\"bullet shaped\").","id":"HP:0009769","name":"Bullet-shaped phalanges of the hand","obsolete":false,"parents":["HP:0005918"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped hand bones"},{"scope":"EXACT","text":"Bullet-shaped phalanges of the hands"},{"scope":"EXACT","text":"Conical bullet-shaped distal ends of phalanges"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009770","name":"Curved phalanges of the hand","obsolete":false,"parents":["HP:0005918"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved hand bones"}]} +{"alt_ids":["HP:0001179"],"definition":"Dissolution or degeneration of bone tissue of the phalanges of the hand.","id":"HP:0009771","name":"Osteolytic defects of the phalanges of the hand","obsolete":false,"parents":["HP:0005918","HP:0009699"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acro-osteolysis"},{"scope":"EXACT","text":"Acroosteolysis"},{"scope":"EXACT","text":"Breakdown of small bones of fingers"}]} +{"alt_ids":["HP:0006071"],"definition":"Uneven (irregular) increase in bone density of one or more of the phalanges of the hand.","id":"HP:0009772","name":"Patchy sclerosis of finger phalanx","obsolete":false,"parents":["HP:0004286","HP:0005686","HP:0100899"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Patchy sclerosis of the phalanges of the hand"},{"scope":"EXACT","text":"Phalangeal sclerosis"},{"scope":"EXACT","text":"Uneven increase in bone density in finger bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009773","name":"obsolete Symphalangism affecting the phalanges of the hand","obsolete":true,"parents":[],"replaced_by":["HP:0009700"],"synonyms":[]} +{"alt_ids":["HP:0006085","HP:0009874"],"definition":null,"id":"HP:0009774","name":"Triangular shaped phalanges of the hand","obsolete":false,"parents":["HP:0005918"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delta phalanx/delta-like phalanx"},{"scope":"EXACT","text":"Triangular shaped hand bones"}]} +{"alt_ids":["HP:0001078"],"definition":"Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands.","id":"HP:0009775","name":"Amniotic constriction ring","obsolete":false,"parents":["HP:0011409"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Amniotic bands"},{"scope":"RELATED","text":"Amniotic constriction band"},{"scope":"EXACT","text":"Congenital constriction band sequence"},{"scope":"EXACT","text":"Pseudoainhum"}]} +{"alt_ids":[],"definition":"The absence of all phalanges of all the digits of a limb and the associated soft tissues.","id":"HP:0009776","name":"Adactyly","obsolete":false,"parents":["HP:0009380","HP:0010760","HP:6000818"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Absent fingers or toes"},{"scope":"EXACT","text":"Aphalangy"}]} +{"alt_ids":["HP:0001185","HP:0002802","HP:0009627"],"definition":"Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.","id":"HP:0009777","name":"Absent thumb","obsolete":false,"parents":["HP:0009380","HP:0009601"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent thumb"},{"scope":"EXACT","text":"Absent thumbs"},{"scope":"EXACT","text":"Aplasia of the thumb"},{"scope":"EXACT","text":"Thumb aplasia"}]} +{"alt_ids":["HP:0001183","HP:0001186","HP:0001589","HP:0005699","HP:0006151","HP:0009628"],"definition":"Hypoplasia (congenital reduction in size) of the thumb.","id":"HP:0009778","name":"Short thumb","obsolete":false,"parents":["HP:0009381","HP:0009601"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic thumb"},{"scope":"EXACT","text":"Hypoplastic thumbs"},{"scope":"EXACT","text":"Hypoplastic/small thumb"},{"scope":"EXACT","text":"Short thumb"},{"scope":"EXACT","text":"Short thumbs"},{"scope":"EXACT","text":"Small thumbs"},{"scope":"EXACT","text":"Thumb brachydactyly"},{"scope":"EXACT","text":"Thumb hypoplasia"}]} +{"alt_ids":["HP:0004708"],"definition":"Syndactyly with fusion of toes three and four.","id":"HP:0009779","name":"3-4 toe syndactyly","obsolete":false,"parents":["HP:0001770"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Webbed 3rd-4th toes"},{"scope":"EXACT","text":"syndactyly of 3rd - 4th toes"}]} +{"alt_ids":[],"definition":"Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic.","id":"HP:0009780","name":"Iliac horns","obsolete":false,"parents":["HP:0003796"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape.","id":"HP:0009781","name":"Lester's sign","obsolete":false,"parents":["HP:0001100"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the biceps muscle.","id":"HP:0009782","name":"Aplasia/Hypoplasia of the biceps","obsolete":false,"parents":["HP:0001468"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small biceps"},{"scope":"EXACT","text":"Absent/underdeveloped biceps"}]} +{"alt_ids":[],"definition":"Absence of the biceps muscle.","id":"HP:0009783","name":"Biceps aplasia","obsolete":false,"parents":["HP:0009782","HP:0100854"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent biceps"}]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the triceps muscle.","id":"HP:0009784","name":"Aplasia/Hypoplasia of the triceps","obsolete":false,"parents":["HP:0001468"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small triceps"},{"scope":"EXACT","text":"Absent/underdeveloped triceps"}]} +{"alt_ids":[],"definition":"Absence of the triceps muscle.","id":"HP:0009785","name":"Triceps aplasia","obsolete":false,"parents":["HP:0009784","HP:0100854"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent triceps"}]} +{"alt_ids":[],"definition":"Absence or underdevelopment involving the musculature of the thigh.","id":"HP:0009786","name":"Aplasia/Hypoplasia of the musculature of the thigh","obsolete":false,"parents":["HP:0001441","HP:0009128"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small thigh muscles"},{"scope":"EXACT","text":"Absent/underdeveloped thigh muscles"}]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the quadriceps muscle.","id":"HP:0009787","name":"Aplasia/Hypoplasia of the quadriceps","obsolete":false,"parents":["HP:0009786"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small quadriceps"},{"scope":"EXACT","text":"Absent/underdeveloped quadriceps"}]} +{"alt_ids":[],"definition":"Absence of the quadriceps muscle.","id":"HP:0009788","name":"Quadriceps aplasia","obsolete":false,"parents":["HP:0009787","HP:0100854"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent quads"}]} +{"alt_ids":[],"definition":"The presence of an abscess located around the anus.","id":"HP:0009789","name":"Perianal abscess","obsolete":false,"parents":["HP:0031292","HP:0034915"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5.","id":"HP:0009790","name":"Hemisacrum","obsolete":false,"parents":["HP:0008490"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of a bifid sacral bone.","id":"HP:0009791","name":"Bifid sacrum","obsolete":false,"parents":["HP:0008490"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a teratoma.","id":"HP:0009792","name":"Teratoma","obsolete":false,"parents":["HP:0002898","HP:0100728"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV).","id":"HP:0009793","name":"Presacral teratoma","obsolete":false,"parents":["HP:0030736"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Altman type IV sacrococcygeal teratoma"},{"scope":"EXACT","text":"Retrorectal teratoma"}]} +{"alt_ids":[],"definition":"Congenital developmental defect arising from the primitive branchial apparatus.","id":"HP:0009794","name":"Branchial anomaly","obsolete":false,"parents":["HP:0025668"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of branchial apparatus"},{"scope":"EXACT","text":"Abnormality of branchial arch"},{"scope":"EXACT","text":"Branchial abnormality"},{"scope":"EXACT","text":"Branchial anomalies"}]} +{"alt_ids":[],"definition":"A congenital fistula in the neck resulting from incomplete closure of a branchial cleft.","id":"HP:0009795","name":"Branchial fistula","obsolete":false,"parents":["HP:0009794"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Branchial cleft fistula"}]} +{"alt_ids":[],"definition":"A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region.","id":"HP:0009796","name":"Branchial cyst","obsolete":false,"parents":["HP:0009794"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Branchial cleft cyst"},{"scope":"EXACT","text":"Branchial cysts"}]} +{"alt_ids":[],"definition":"Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.","id":"HP:0009797","name":"Cholesteatoma","obsolete":false,"parents":["HP:0008609","HP:0100799"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A goiter that is not associated with functional thyroid abnormalities.","id":"HP:0009798","name":"Euthyroid goiter","obsolete":false,"parents":["HP:0000853"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Euthyroid goitre"}]} +{"alt_ids":[],"definition":"The presence of two or more accessory spleens.","id":"HP:0009799","name":"Supernumerary spleens","obsolete":false,"parents":["HP:0025408"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extra spleen"}]} +{"alt_ids":[],"definition":"Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes.","id":"HP:0009800","name":"Maternal diabetes","obsolete":false,"parents":["HP:0002686"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Maternal diabetes"},{"scope":"EXACT","text":"gestational diabetes"},{"scope":"NARROW","text":"maternal hyperglycemia"}]} +{"alt_ids":[],"definition":"Absence of one or more of the phalanges of the hand.","id":"HP:0009802","name":"Aplasia of the phalanges of the hand","obsolete":false,"parents":["HP:0009767","HP:0009823"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Absent finger bone of the hand"}]} +{"alt_ids":["HP:0001168","HP:0005771","HP:0006087","HP:0006126"],"definition":"Short (hypoplastic) phalanx of finger, affecting one or more phalanges.","id":"HP:0009803","name":"Short phalanx of finger","obsolete":false,"parents":["HP:0009767"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic phalanges"},{"scope":"EXACT","text":"Hypoplastic phalanges of hands"},{"scope":"EXACT","text":"Hypoplastic/small phalanges of the hand"},{"scope":"EXACT","text":"Phalangeal hypoplasia"},{"scope":"EXACT","text":"Rudimentary phalanges"},{"scope":"EXACT","text":"Short finger bones"},{"scope":"EXACT","text":"Short phalanges"},{"scope":"EXACT","text":"Shortened phalanges"}]} +{"alt_ids":[],"definition":"The absence of one or more teeth from the normal series by a failure to develop","id":"HP:0009804","name":"Tooth agenesis","obsolete":false,"parents":["HP:0006483"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Decreased number of teeth"},{"scope":"EXACT","text":"Decreased tooth count"},{"scope":"EXACT","text":"Dental agenesis"},{"scope":"EXACT","text":"Failure of development of some teeth"},{"scope":"RELATED","text":"Fewer teeth than normal"},{"scope":"RELATED","text":"Missing some teeth"},{"scope":"EXACT","text":"Reduced number of teeth"},{"scope":"EXACT","text":"Teeth, agenesis"}]} +{"alt_ids":[],"definition":"A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes.","id":"HP:0009805","name":"Low-output congestive heart failure","obsolete":false,"parents":["HP:0001635"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP).","id":"HP:0009806","name":"Nephrogenic diabetes insipidus","obsolete":false,"parents":["HP:0000873"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003857"],"definition":"A structural abnormality of a diaphysis of the arm.","id":"HP:0009808","name":"Anomaly of the upper limb diaphyses","obsolete":false,"parents":["HP:0000940","HP:0002817"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality involving the diaphyses of the upper limbs"},{"scope":"EXACT","text":"Abnormality of shaft of long bone of the upper limbs"},{"scope":"EXACT","text":"Diaphyseal abnormality of the upper limbs"}]} +{"alt_ids":["HP:0003847"],"definition":"An anomaly of one or more metaphyses of the arms.","id":"HP:0009809","name":"Abnormal upper limb metaphysis morphology","obsolete":false,"parents":["HP:0000944","HP:0002817"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the wide portion of upper limb bone"},{"scope":"EXACT","text":"Abnormality of upper limb metaphysis"},{"scope":"EXACT","text":"Metaphyseal abnormality of the upper limbs"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009810","name":"Abnormality of upper limb joint","obsolete":false,"parents":["HP:0001367","HP:0002817"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the joints of the upper limbs"},{"scope":"EXACT","text":"Abnormality of upper limb joint"}]} +{"alt_ids":["HP:0002966"],"definition":"An anomaly of the joint that connects the upper and the lower arm.","id":"HP:0009811","name":"Abnormality of the elbow","obsolete":false,"parents":["HP:0009810"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the elbow"},{"scope":"EXACT","text":"Abnormality of the elbows"}]} +{"alt_ids":[],"definition":"Amelia of one or both upper limbs.","id":"HP:0009812","name":"Amelia involving the upper limbs","obsolete":false,"parents":["HP:0006496","HP:0009827","HP:6000918"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).","id":"HP:0009813","name":"Upper limb phocomelia","obsolete":false,"parents":["HP:0006496","HP:0009829"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation.","id":"HP:0009814","name":"Upper limb peromelia","obsolete":false,"parents":["HP:0006496","HP:0009828"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002969","HP:0006497"],"definition":"Absence (due to failure to form) or underdevelopment of the extremities.","id":"HP:0009815","name":"Aplasia/hypoplasia of the extremities","obsolete":false,"parents":["HP:0009115","HP:0040064"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small extremities"},{"scope":"EXACT","text":"Absent/underdeveloped extremities"},{"scope":"EXACT","text":"Short or absent limbs"},{"scope":"EXACT","text":"Shortened limbs"}]} +{"alt_ids":["HP:0003087","HP:0005884","HP:0006399"],"definition":"Leg shortening because of underdevelopment of one or more bones of the lower extremity.","id":"HP:0009816","name":"Lower limb undergrowth","obsolete":false,"parents":["HP:0006493","HP:0009826"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplasia involving bones of the lower limbs"},{"scope":"EXACT","text":"Hypoplasia of the lower limbs"},{"scope":"EXACT","text":"Lower limb undergrowth"},{"scope":"EXACT","text":"Underdeveloped lower limb bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009817","name":"Aplasia involving bones of the lower limbs","obsolete":false,"parents":["HP:0006493","HP:0009825"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent bones of the lower limbs"}]} +{"alt_ids":[],"definition":"Complete or near-complete absence of a leg.","id":"HP:0009818","name":"Amelia involving the lower limbs","obsolete":false,"parents":["HP:0006493","HP:0009827","HP:6000946"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Phocomelia affecting only the lower limbs.","id":"HP:0009819","name":"Lower limb phocomelia","obsolete":false,"parents":["HP:0006493","HP:0009829"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation.","id":"HP:0009820","name":"Lower limb peromelia","obsolete":false,"parents":["HP:0006494","HP:0009828"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003024","HP:0003968","HP:0006405"],"definition":"Forearm shortening because of underdevelopment of one or more bones of the forearm.","id":"HP:0009821","name":"Forearm undergrowth","obsolete":false,"parents":["HP:0003026","HP:0006503","HP:0009824"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Forearm undergrowth"},{"scope":"EXACT","text":"Hypoplasia involving forearm bones"},{"scope":"EXACT","text":"Short forearm bones"},{"scope":"EXACT","text":"Short forearms"},{"scope":"EXACT","text":"Shortened forearm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009822","name":"obsolete Aplasia involving forearm bones","obsolete":true,"parents":[],"replaced_by":["HP:0003953"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0009823","name":"Aplasia involving bones of the upper limbs","obsolete":false,"parents":["HP:0006496","HP:0009825"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent bones of the upper limbs"}]} +{"alt_ids":["HP:0003056","HP:0006364"],"definition":"Arm shortening because of underdevelopment of one or more bones of the upper extremity.","id":"HP:0009824","name":"Upper limb undergrowth","obsolete":false,"parents":["HP:0006496","HP:0009826"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplasia involving bones of the upper limbs"},{"scope":"EXACT","text":"Short arms"},{"scope":"EXACT","text":"Shortening of the arms"},{"scope":"EXACT","text":"Upper limb undergrowth"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009825","name":"Aplasia involving bones of the extremities","obsolete":false,"parents":["HP:0045060"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent bones of the extremities"}]} +{"alt_ids":["HP:0003058","HP:0005049","HP:0005057"],"definition":"Limb shortening because of underdevelopment of one or more bones of the extremities.","id":"HP:0009826","name":"Limb undergrowth","obsolete":false,"parents":["HP:0009815"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplasia involving bones of the extremities"},{"scope":"EXACT","text":"Limb undergrowth"},{"scope":"EXACT","text":"Short limb"},{"scope":"EXACT","text":"Short limbs"},{"scope":"EXACT","text":"limb shortening"}]} +{"alt_ids":[],"definition":"Congenital absence (aplasia) of one or more limbs.","id":"HP:0009827","name":"Amelia","obsolete":false,"parents":["HP:0009815"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The distal parts of the limbs are missing leading to a stump formation.","id":"HP:0009828","name":"Peromelia","obsolete":false,"parents":["HP:0009815"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002994"],"definition":"Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the entire limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).","id":"HP:0009829","name":"Phocomelia","obsolete":false,"parents":["HP:0009815","HP:0011314"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003157","HP:0003407","HP:0007088","HP:0007235","HP:0007355"],"definition":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","id":"HP:0009830","name":"Peripheral neuropathy","obsolete":false,"parents":["HP:0032120"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Neuropathy"},{"scope":"EXACT","text":"Peripheral nerve damage"},{"scope":"EXACT","text":"Peripheral neuritis"}]} +{"alt_ids":[],"definition":"A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution.","id":"HP:0009831","name":"Mononeuropathy","obsolete":false,"parents":["HP:0009830"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Single damaged nerve"}]} +{"alt_ids":["HP:0005919"],"definition":"Any anomaly of distal phalanx of finger.","id":"HP:0009832","name":"Abnormal distal phalanx morphology of finger","obsolete":false,"parents":["HP:0005918"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal terminal phalanges of the hand"},{"scope":"EXACT","text":"Abnormality of the distal phalanges of the hand"},{"scope":"EXACT","text":"Abnormality of the distal phalanx of finger"},{"scope":"EXACT","text":"Abnormality of the outermost finger bone"}]} +{"alt_ids":[],"definition":"An anomaly of middle phalanx of finger.","id":"HP:0009833","name":"Abnormal middle phalanx morphology of the hand","obsolete":false,"parents":["HP:0005918"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the middle finger bones of the hand"},{"scope":"EXACT","text":"Abnormality of the middle phalanges of the hand"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009834","name":"Abnormal proximal phalanx morphology of the hand","obsolete":false,"parents":["HP:0005918"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the innermost finger bones of the hand"},{"scope":"EXACT","text":"Abnormality of the proximal phalanges of the hand"}]} +{"alt_ids":["HP:0005635","HP:0006037","HP:0006066","HP:0006235"],"definition":"Absence or underdevelopment of the distal phalanges.","id":"HP:0009835","name":"Aplasia/Hypoplasia of the distal phalanges of the hand","obsolete":false,"parents":["HP:0009767","HP:0009832"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/hypoplastic distal phalanges"},{"scope":"EXACT","text":"Absent/small outermost finger bone of the hand"},{"scope":"EXACT","text":"Absent/underdeveloped outermost finger bone of the hand"},{"scope":"EXACT","text":"Aplasia/Hypoplasia of the distal phalanges"},{"scope":"EXACT","text":"Aplastic/hypoplastic distal phalanges"},{"scope":"EXACT","text":"Hypoplastic to absent terminal phalanges"},{"scope":"EXACT","text":"Hypoplastic/aplastic distal phalanges"},{"scope":"EXACT","text":"Hypoplastic/aplastic distal phalanx"},{"scope":"RELATED","text":"Small or absent distal phalanges"}]} +{"alt_ids":["HP:0003120","HP:0006113","HP:0006197","HP:0006241","HP:0009859"],"definition":"Abnormally wide (broad) distal phalanx of finger.","id":"HP:0009836","name":"Broad distal phalanx of finger","obsolete":false,"parents":["HP:0009768","HP:0009832"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad distal phalanges"},{"scope":"EXACT","text":"Broad distal phalanges of the hand"},{"scope":"EXACT","text":"Broad distal phalanx"},{"scope":"EXACT","text":"Broad outermost finger bone"},{"scope":"EXACT","text":"Broad terminal phalanges"},{"scope":"EXACT","text":"Broad, square ends of distal phalanges"},{"scope":"EXACT","text":"Spatulate terminal phalanges"}]} +{"alt_ids":["HP:0009860"],"definition":"Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.","id":"HP:0009837","name":"Bullet-shaped distal phalanges of the hand","obsolete":false,"parents":["HP:0009769","HP:0009832"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped outermost finger bone of the hand"}]} +{"alt_ids":["HP:0009862"],"definition":null,"id":"HP:0009838","name":"Curved distal phalanges of the hand","obsolete":false,"parents":["HP:0009770","HP:0009832"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved outermost finger bone of the hand"}]} +{"alt_ids":["HP:0001219","HP:0009865"],"definition":null,"id":"HP:0009839","name":"Osteolytic defects of the distal phalanges of the hand","obsolete":false,"parents":["HP:0009771","HP:0009832"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acro-osteolysis of distal phalanges"},{"scope":"EXACT","text":"Acroosteolysis of distal phalanges"},{"scope":"EXACT","text":"Osteolytic defects of the outermost finger bone of the hand"}]} +{"alt_ids":["HP:0009868"],"definition":"Uneven (irregular) increase in bone density of the distal phalanges of the hand.","id":"HP:0009840","name":"Patchy sclerosis of distal phalanx of finger","obsolete":false,"parents":["HP:0009772","HP:0100915"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Patchy sclerosis of the distal phalanges of the hand"},{"scope":"EXACT","text":"Uneven increase in bone density in outermost finger bone"}]} +{"alt_ids":["HP:0005810","HP:0006063","HP:0006148"],"definition":null,"id":"HP:0009843","name":"Aplasia/Hypoplasia of the middle phalanges of the hand","obsolete":false,"parents":["HP:0009767","HP:0009833"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/hypoplastic middle phalanges"},{"scope":"EXACT","text":"Absent/small middle finger bone of the hand"},{"scope":"EXACT","text":"Absent/underdeveloped middle finger bone of the hand"},{"scope":"EXACT","text":"Aplasia/hypoplasia of middle phalanges"},{"scope":"EXACT","text":"Aplastic/hypoplastic middle phalanges"},{"scope":"EXACT","text":"Hypoplastic/aplastic middle phalanx"},{"scope":"EXACT","text":"Short to absent middle phalanges"},{"scope":"EXACT","text":"Short/absent middle phalanges"}]} +{"alt_ids":[],"definition":"Increased width of the middle phalanx of finger.","id":"HP:0009844","name":"Broad middle phalanx of finger","obsolete":false,"parents":["HP:0009768","HP:0009833"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad middle finger bones"},{"scope":"EXACT","text":"Broad middle phalanges of finger"},{"scope":"EXACT","text":"Broad middle phalanges of the hand"}]} +{"alt_ids":["HP:0006038"],"definition":"Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.","id":"HP:0009845","name":"Bullet-shaped middle phalanges of the hand","obsolete":false,"parents":["HP:0009769","HP:0009833"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0009863"],"definition":null,"id":"HP:0009846","name":"Curved middle phalanges of the hand","obsolete":false,"parents":["HP:0009770","HP:0009833"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved middle finger bonds of the hand"}]} +{"alt_ids":["HP:0009866"],"definition":null,"id":"HP:0009847","name":"Osteolytic defects of the middle phalanges of the hand","obsolete":false,"parents":["HP:0009771","HP:0009833"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0009870"],"definition":"Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand.","id":"HP:0009848","name":"Patchy sclerosis of middle phalanx of finger","obsolete":false,"parents":["HP:0009772","HP:0100916"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Patchy sclerosis of the middle phalanges of the hand"},{"scope":"EXACT","text":"Uneven increase in bone density in the middle finger bones of the hand"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009849","name":"obsolete Symphalangism of middle phalanx of finger","obsolete":true,"parents":[],"replaced_by":["HP:0009700"],"synonyms":[]} +{"alt_ids":["HP:0009876"],"definition":null,"id":"HP:0009850","name":"Triangular shaped middle phalanges of the hand","obsolete":false,"parents":["HP:0009774","HP:0009833"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped middle finger bones of the hand"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009851","name":"Aplasia/Hypoplasia of the proximal phalanges of the hand","obsolete":false,"parents":["HP:0009767","HP:0009834"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small innermost finger bones of the hand"},{"scope":"EXACT","text":"Absent/underdeveloped innermost finger bones of the hand"}]} +{"alt_ids":["HP:0006168"],"definition":"Increased width of the proximal phalanges of the finger.","id":"HP:0009852","name":"Broad proximal phalanges of the hand","obsolete":false,"parents":["HP:0009768","HP:0009834"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad innermost finger bones of the hand"},{"scope":"EXACT","text":"Wide innermost finger bones of the hand"}]} +{"alt_ids":["HP:0009861"],"definition":"Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction.","id":"HP:0009853","name":"Bullet-shaped proximal phalanges of the hand","obsolete":false,"parents":["HP:0009769","HP:0009834"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped innermost finger bones of the hand"}]} +{"alt_ids":["HP:0009864"],"definition":null,"id":"HP:0009854","name":"Curved proximal phalanges of the hand","obsolete":false,"parents":["HP:0009770","HP:0009834"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved innermost finger bones of the hand"}]} +{"alt_ids":["HP:0006050","HP:0009867"],"definition":null,"id":"HP:0009855","name":"Osteolytic defects of the proximal phalanges of the hand","obsolete":false,"parents":["HP:0009771","HP:0009834"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Proximal phalanges osteolysis"}]} +{"alt_ids":["HP:0009869"],"definition":"Uneven increase in bone density of the proximal phalanges of the hand.","id":"HP:0009856","name":"Patchy sclerosis of proximal phalanx of finger","obsolete":false,"parents":["HP:0009772","HP:0100917"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Patchy sclerosis of the proximal phalanges of the hand"},{"scope":"EXACT","text":"Uneven increase in bone density in innermost finger bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009857","name":"obsolete Symphalangism affecting the proximal phalanges of the hand","obsolete":true,"parents":[],"replaced_by":["HP:0006152"],"synonyms":[]} +{"alt_ids":["HP:0009877"],"definition":null,"id":"HP:0009858","name":"Triangular shaped proximal phalanges of the hand","obsolete":false,"parents":["HP:0009774","HP:0009834"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Triangular shaped innermost finger bone"}]} +{"alt_ids":["HP:0006061","HP:0009842"],"definition":null,"id":"HP:0009875","name":"Triangular shaped distal phalanges of the hand","obsolete":false,"parents":["HP:0009774","HP:0009832"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped outermost bone of the hand"}]} +{"alt_ids":[],"definition":"The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight).","id":"HP:0009878","name":"Cerebellar ataxia associated with quadrupedal gait","obsolete":false,"parents":["HP:0001251","HP:0001288"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.","id":"HP:0009879","name":"Simplified gyral pattern","obsolete":false,"parents":["HP:0002536"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cortical gyral simplification"}]} +{"alt_ids":["HP:0005816"],"definition":"Abnormally wide (broad) distal phalanx of finger of all fingers.","id":"HP:0009880","name":"Broad distal phalanges of all fingers","obsolete":false,"parents":["HP:0009836"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad outermost hand bones"}]} +{"alt_ids":["HP:0005807"],"definition":null,"id":"HP:0009881","name":"Aplasia of distal finger phalanx","obsolete":false,"parents":["HP:0009380","HP:0009802","HP:0009835"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent distal finger phalanges"},{"scope":"EXACT","text":"Absent distal finger phalanx"},{"scope":"EXACT","text":"Absent distal phalanges of the hand"},{"scope":"EXACT","text":"Absent outermost hand bone"},{"scope":"EXACT","text":"Aplasia of outermost hand bone"},{"scope":"EXACT","text":"Aplasia of the distal phalanges of the hand"}]} +{"alt_ids":["HP:0001198","HP:0001202","HP:0001221","HP:0001229","HP:0005669","HP:0006075","HP:0006076","HP:0006132","HP:0006199","HP:0006223"],"definition":"Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.","id":"HP:0009882","name":"Short distal phalanx of finger","obsolete":false,"parents":["HP:0009381","HP:0009803","HP:0009835"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brachytelophalangy"},{"scope":"EXACT","text":"Distal phalangeal hypoplasia"},{"scope":"EXACT","text":"Hypoplasia of the distal phalanges"},{"scope":"EXACT","text":"Hypoplasia of the distal phalanges of the hand"},{"scope":"EXACT","text":"Hypoplastic distal phalanges"},{"scope":"EXACT","text":"Hypoplastic terminal phalanges"},{"scope":"EXACT","text":"Short distal phalanges"},{"scope":"EXACT","text":"Short outermost finger bone"},{"scope":"EXACT","text":"Terminal phalangeal hypoplasia of hand"}]} +{"alt_ids":["HP:0001228","HP:0010007"],"definition":"This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.","id":"HP:0009883","name":"Duplication of the distal phalanx of hand","obsolete":false,"parents":["HP:0009832","HP:0009997"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bifid terminal phalanges"},{"scope":"EXACT","text":"Duplication of the outermost bone of hand"},{"scope":"EXACT","text":"Notched outermost bone of hand"},{"scope":"EXACT","text":"Partial/complete duplication of the distal phalanges of the hand"}]} +{"alt_ids":["HP:0006052"],"definition":"A reduction in diameter of the distal phalanx of finger towards the distal end.","id":"HP:0009884","name":"Tapered distal phalanges of finger","obsolete":false,"parents":["HP:0009832"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tapered distal phalanges"},{"scope":"EXACT","text":"Tapered distal phalanges of the hand"},{"scope":"EXACT","text":"Tapered outermost finger bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009885","name":"obsolete Prenatal short stature","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair.","id":"HP:0009886","name":"Trichorrhexis nodosa","obsolete":false,"parents":["HP:0003328"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of hair pigmentation (color).","id":"HP:0009887","name":"Abnormality of hair pigmentation","obsolete":false,"parents":["HP:0001595"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of hair color"},{"scope":"EXACT","text":"Abnormality of hair colour"},{"scope":"EXACT","text":"Abnormality of hair pigmentation"}]} +{"alt_ids":[],"definition":"Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair.","id":"HP:0009888","name":"Abnormality of secondary sexual hair","obsolete":false,"parents":["HP:0001595"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of secondary sexual hair"}]} +{"alt_ids":[],"definition":"Abnormally increased hair growth with a localized distribution.","id":"HP:0009889","name":"Localized hirsutism","obsolete":false,"parents":["HP:0001007"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Localised abnormal hair growth"},{"scope":"EXACT","text":"Localised hirsutism"},{"scope":"EXACT","text":"Localized abnormal hair growth"}]} +{"alt_ids":[],"definition":"Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella.","id":"HP:0009890","name":"High anterior hairline","obsolete":false,"parents":["HP:0000599"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High frontal hairline"}]} +{"alt_ids":["HP:0004667","HP:0004672","HP:0005337"],"definition":"Flatness of the supraorbital portion of the frontal bones.","id":"HP:0009891","name":"Underdeveloped supraorbital ridges","obsolete":false,"parents":["HP:0100538"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Depressed supraorbital margins"},{"scope":"EXACT","text":"Depressed supraorbital ridge"},{"scope":"EXACT","text":"Flat supraorbital margins"},{"scope":"EXACT","text":"Flat supraorbital ridge"},{"scope":"EXACT","text":"Flattened bony protrusion above eyes"},{"scope":"EXACT","text":"Hypoplasia of supraorbital margins"},{"scope":"EXACT","text":"Hypoplasia of the supraorbital ridges"},{"scope":"EXACT","text":"Hypoplastic supraorbital ridges"},{"scope":"EXACT","text":"Shallow orbital ridges"},{"scope":"EXACT","text":"Shallow supraorbital ridge"},{"scope":"RELATED","text":"Underdeveloped brows"}]} +{"alt_ids":[],"definition":"Complete absence of any auricular structures.","id":"HP:0009892","name":"Anotia","obsolete":false,"parents":["HP:0008772"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Absent ear"},{"scope":"RELATED","text":"Absent ears"},{"scope":"RELATED","text":"Congenital absence of external ear"}]} +{"alt_ids":[],"definition":"The presence of telangiectasia of the ear.","id":"HP:0009893","name":"Telangiectasia of the ear","obsolete":false,"parents":["HP:0000377","HP:0100585"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased thickness of the external ear.","id":"HP:0009894","name":"Thickened ears","obsolete":false,"parents":["HP:0000377"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thickened ears"}]} +{"alt_ids":[],"definition":"An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear.","id":"HP:0009895","name":"Abnormality of the crus of the helix","obsolete":false,"parents":["HP:0011039","HP:3000022"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the crus of the ear"}]} +{"alt_ids":[],"definition":"An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch.","id":"HP:0009896","name":"Abnormal antitragus morphology","obsolete":false,"parents":["HP:0000377"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly.","id":"HP:0009897","name":"Horizontal crus of helix","obsolete":false,"parents":["HP:0009895"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Helix, crus, horizontal"},{"scope":"EXACT","text":"Horizontal orientation of the crus of helix"},{"scope":"EXACT","text":"Horizontal orientation of the ear crus"},{"scope":"RELATED","text":"Railroad track ears"},{"scope":"RELATED","text":"Railroad track sign"}]} +{"alt_ids":[],"definition":"Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average.","id":"HP:0009898","name":"Underdeveloped crus of the helix","obsolete":false,"parents":["HP:0009895"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplasia of the crus of the ear"},{"scope":"EXACT","text":"Underdeveloped crus of the ear"}]} +{"alt_ids":[],"definition":"The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix.","id":"HP:0009899","name":"Prominent crus of helix","obsolete":false,"parents":["HP:0009895"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal prominence of the crus of the ear"},{"scope":"EXACT","text":"Helix, crus, prominent"},{"scope":"EXACT","text":"Hyperplastic helix crus"},{"scope":"EXACT","text":"Hypertrophic helix crus"}]} +{"alt_ids":[],"definition":"A unilateral absence of sensory perception of sound.","id":"HP:0009900","name":"Unilateral deafness","obsolete":false,"parents":["HP:0000365"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deafness in one ear"},{"scope":"EXACT","text":"Deafness, unilateral"}]} +{"alt_ids":[],"definition":"Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds.","id":"HP:0009901","name":"Crumpled ear","obsolete":false,"parents":["HP:0000377"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Cauliflower ear"},{"scope":"EXACT","text":"Crumpled ear"}]} +{"alt_ids":[],"definition":"A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length.","id":"HP:0009902","name":"Cleft helix","obsolete":false,"parents":["HP:0011039"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Notched helix"},{"scope":"EXACT","text":"Notching of the ear helix"}]} +{"alt_ids":[],"definition":"Presence of nodules in the conjunctiva of the eye.","id":"HP:0009903","name":"Conjunctival nodule","obsolete":false,"parents":["HP:0000502"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally prominent ear helix.","id":"HP:0009904","name":"Prominent ear helix","obsolete":false,"parents":["HP:0011039"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Large helix"}]} +{"alt_ids":[],"definition":"Decreased thickness of the helix of the ear.","id":"HP:0009905","name":"Thin ear helix","obsolete":false,"parents":["HP:0011039"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the ear lobes.","id":"HP:0009906","name":"Aplasia/Hypoplasia of the earlobes","obsolete":false,"parents":["HP:0000363"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small ear lobes"},{"scope":"EXACT","text":"Absent/underdeveloped ear lobes"}]} +{"alt_ids":[],"definition":"Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward.","id":"HP:0009907","name":"Attached earlobe","obsolete":false,"parents":["HP:0000363"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Adherent earlobe"},{"scope":"EXACT","text":"Attached earlobe"}]} +{"alt_ids":["HP:0008604"],"definition":"Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.","id":"HP:0009908","name":"Anterior creases of earlobe","obsolete":false,"parents":["HP:0000363"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Earlobe crease"},{"scope":"EXACT","text":"Transverse earlobe creases"}]} +{"alt_ids":["HP:0009764"],"definition":"An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly.","id":"HP:0009909","name":"Uplifted earlobe","obsolete":false,"parents":["HP:0000363"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fleshy upturned lobules"},{"scope":"EXACT","text":"Lobe, uplifted"},{"scope":"EXACT","text":"Uplifted earlobe"},{"scope":"RELATED","text":"Uplifted earlobes"},{"scope":"EXACT","text":"Upturned earlobe"},{"scope":"RELATED","text":"Upturned earlobes"}]} +{"alt_ids":[],"definition":"Absence of the middle ear ossicles, malleus, incus, and stapes.","id":"HP:0009910","name":"Aplasia of the middle ear ossicles","obsolete":false,"parents":["HP:0004452"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent middle ear bones"},{"scope":"EXACT","text":"Absent middle ear ossicles"}]} +{"alt_ids":[],"definition":"Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple.","id":"HP:0009911","name":"Abnormal temporal bone morphology","obsolete":false,"parents":["HP:0000929"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the temporal bone"}]} +{"alt_ids":[],"definition":"An abnormality of the tragus.","id":"HP:0009912","name":"Abnormal tragus morphology","obsolete":false,"parents":["HP:0000377"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the tragus"}]} +{"alt_ids":[],"definition":"Aplasia or developmental hypoplasia of the tragus.","id":"HP:0009913","name":"Aplasia/Hypoplasia of the tragus","obsolete":false,"parents":["HP:0009912"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small tragus"},{"scope":"EXACT","text":"Absent/underdeveloped tragus"}]} +{"alt_ids":[],"definition":"Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose.","id":"HP:0009914","name":"Cyclopia","obsolete":false,"parents":["HP:0100886"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cyclops eye"},{"scope":"EXACT","text":"Single central eye"}]} +{"alt_ids":[],"definition":"The presence of a size difference between the left and right cornea.","id":"HP:0009915","name":"Corneal asymmetry","obsolete":false,"parents":["HP:0001120"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Asymmetry of the corneas"}]} +{"alt_ids":[],"definition":"Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.","id":"HP:0009916","name":"Anisocoria","obsolete":false,"parents":["HP:0000615"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Asymmetric pupil sizes"},{"scope":"EXACT","text":"Asymmetry of the pupils"},{"scope":"EXACT","text":"Unequal pupil dilatation"},{"scope":"EXACT","text":"Unequal pupil size"}]} +{"alt_ids":[],"definition":"The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.","id":"HP:0009917","name":"Persistent pupillary membrane","obsolete":false,"parents":["HP:0000615"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A malposition of the pupil owing to a developmental defect of the iris.","id":"HP:0009918","name":"Ectopia pupillae","obsolete":false,"parents":["HP:0000615"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Corectopia"},{"scope":"EXACT","text":"Displaced pupil"}]} +{"alt_ids":[],"definition":"A tumor of the eye originating from cells of the retina.","id":"HP:0009919","name":"Retinoblastoma","obsolete":false,"parents":["HP:0002898","HP:0012777","HP:0030063"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Retina tumor"},{"scope":"BROAD","text":"Retina tumour"}]} +{"alt_ids":[],"definition":"A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera.","id":"HP:0009920","name":"Nevus of Ota","obsolete":false,"parents":["HP:0003764"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital melanosis bulbi"},{"scope":"EXACT","text":"Mongolian spot"},{"scope":"EXACT","text":"Naevus fuscoceruleus ophthalmomaxillaris"},{"scope":"EXACT","text":"Nevus fuscoceruleus ophthalmomaxillaris"},{"scope":"EXACT","text":"Nevus of Ito"},{"scope":"EXACT","text":"Oculodermal melanocytosis"}]} +{"alt_ids":["HP:0001109"],"definition":"A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction","id":"HP:0009921","name":"Duane anomaly","obsolete":false,"parents":["HP:0025068"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Globe retraction and deviation on adduction"},{"scope":"EXACT","text":"Limited eye motility from Duane anomaly"},{"scope":"EXACT","text":"Limited eye movement from Duane anomaly"}]} +{"alt_ids":[],"definition":"Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth.","id":"HP:0009922","name":"Vascular remnant arising from the disk","obsolete":false,"parents":["HP:0007968"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Persistence of the hyaloid artery"},{"scope":"EXACT","text":"Persistent hyaloid artery"}]} +{"alt_ids":[],"definition":"Underdevelopment or absence of the nose or parts thereof.","id":"HP:0009924","name":"Aplasia/Hypoplasia involving the nose","obsolete":false,"parents":["HP:0005105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased nasal size"},{"scope":"EXACT","text":"Decreased size of nose"},{"scope":"NARROW","text":"Hypoplasia of the nose"},{"scope":"NARROW","text":"Hypotrophic nose"}]} +{"alt_ids":["HP:0001486"],"definition":"Abnormally increased lacrimation, that is, excessive tearing (watering eye).","id":"HP:0009926","name":"Epiphora","obsolete":false,"parents":["HP:0000632"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased lacrimation"},{"scope":"EXACT","text":"Increased tears"},{"scope":"EXACT","text":"Tearing"},{"scope":"EXACT","text":"Watery eyes"}]} +{"alt_ids":[],"definition":"Complete absence of all nasal structures.","id":"HP:0009927","name":"Aplasia of the nose","obsolete":false,"parents":["HP:0009924"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent nose"},{"scope":"EXACT","text":"Arrhinia"},{"scope":"EXACT","text":"Failure of development of nose"},{"scope":"NARROW","text":"Missing nose"},{"scope":"EXACT","text":"Nasal underdevelopment"},{"scope":"EXACT","text":"Underdevelopment of nose"}]} +{"alt_ids":[],"definition":"Increase in bulk of the ala nasi.","id":"HP:0009928","name":"Thick nasal alae","obsolete":false,"parents":["HP:0000429"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ala nasi, thick"},{"scope":"EXACT","text":"Thickening of the alae nasi"}]} +{"alt_ids":[],"definition":"A structural abnormality of the columella.","id":"HP:0009929","name":"Abnormal columella morphology","obsolete":false,"parents":["HP:0010938"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the columella"},{"scope":"EXACT","text":"Anomaly of the columella"},{"scope":"NARROW","text":"Deformity of the columella"},{"scope":"NARROW","text":"Malformation of the columella"}]} +{"alt_ids":[],"definition":"Asymmetry or size difference between the left and right nostril.","id":"HP:0009930","name":"Asymmetry of the nares","obsolete":false,"parents":["HP:0005288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Asymmetry in the implantation of nares"},{"scope":"EXACT","text":"Asymmetry of nostrils"},{"scope":"EXACT","text":"Crooked nostrils"},{"scope":"EXACT","text":"Unequal nostril shape"},{"scope":"EXACT","text":"Unequal nostril size"},{"scope":"EXACT","text":"Uneven nostril shape"},{"scope":"EXACT","text":"Uneven nostril size"}]} +{"alt_ids":[],"definition":"Increased aperture of the nostril.","id":"HP:0009931","name":"Enlarged naris","obsolete":false,"parents":["HP:0005288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad nostril"},{"scope":"EXACT","text":"Dilated nares"},{"scope":"EXACT","text":"Dilated nostril"},{"scope":"EXACT","text":"Enlarged nares"},{"scope":"EXACT","text":"Enlarged nostril"},{"scope":"EXACT","text":"Increased diameter of nares"},{"scope":"EXACT","text":"Increased diameter of nostril"},{"scope":"EXACT","text":"Increased width of nares"},{"scope":"EXACT","text":"Large nares"},{"scope":"EXACT","text":"Naris, broad"},{"scope":"EXACT","text":"Naris, enlarged"},{"scope":"EXACT","text":"Wide nares"},{"scope":"EXACT","text":"Wide nostril"}]} +{"alt_ids":[],"definition":"The presence of only a single nostril.","id":"HP:0009932","name":"Single naris","obsolete":false,"parents":["HP:0005288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mono nostril"},{"scope":"EXACT","text":"One nostril"},{"scope":"EXACT","text":"Single nare"},{"scope":"EXACT","text":"Single nostril"}]} +{"alt_ids":[],"definition":"Slender, slit-like aperture of the nostril.","id":"HP:0009933","name":"Narrow naris","obsolete":false,"parents":["HP:0005288"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Collapsed nostrils"},{"scope":"EXACT","text":"Naris, narrow"},{"scope":"EXACT","text":"Naris, slit-like"},{"scope":"EXACT","text":"Narrow nares"},{"scope":"EXACT","text":"Narrow nostrils"},{"scope":"EXACT","text":"Slit-like nostrils"},{"scope":"EXACT","text":"Small nostrils"},{"scope":"EXACT","text":"Thin nares"},{"scope":"EXACT","text":"Thin nostrils"}]} +{"alt_ids":[],"definition":"The presence of more than two nostrils.","id":"HP:0009934","name":"Supernumerary naris","obsolete":false,"parents":["HP:0005288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Accessory nares"},{"scope":"EXACT","text":"Accessory nostril"},{"scope":"EXACT","text":"Extra nostril"},{"scope":"EXACT","text":"Supernumerary nares"},{"scope":"EXACT","text":"Supernumerary nostrils"}]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the nasal septum.","id":"HP:0009935","name":"Aplasia/Hypoplasia of the nasal septum","obsolete":false,"parents":["HP:0000419","HP:0009924"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ageneis of nasal septum"},{"scope":"NARROW","text":"Failure of development of nasal septum"},{"scope":"EXACT","text":"Underdevelopment of nasal septum"}]} +{"alt_ids":[],"definition":"Abnormally narrow nasal septum.","id":"HP:0009936","name":"Narrow nasal septum","obsolete":false,"parents":["HP:0000419"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased width of nasal septum"},{"scope":"EXACT","text":"Narrow nasal septum"},{"scope":"EXACT","text":"Narrow septum of nose"},{"scope":"EXACT","text":"Thin nasal septum"},{"scope":"EXACT","text":"Thin septum of nose"}]} +{"alt_ids":[],"definition":"Excess facial hair.","id":"HP:0009937","name":"Facial hirsutism","obsolete":false,"parents":["HP:0009889"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Excessive face hair"}]} +{"alt_ids":[],"definition":"Lack or loss of the soft tissues between the zygomata and mandible.","id":"HP:0009938","name":"Sunken cheeks","obsolete":false,"parents":["HP:0004426"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Depressed cheeks"},{"scope":"EXACT","text":"Hollow cheeks"},{"scope":"EXACT","text":"Sunken cheeks"}]} +{"alt_ids":[],"definition":"Absence of the mandible.","id":"HP:0009939","name":"Mandibular aplasia","obsolete":false,"parents":["HP:0009118"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of lower jaw"},{"scope":"EXACT","text":"Absence of lower jaw bone"},{"scope":"NARROW","text":"Absence of lower jaw bones"},{"scope":"EXACT","text":"Absence of mandible"},{"scope":"EXACT","text":"Absent mandible"},{"scope":"EXACT","text":"Agenesis of the mandible"},{"scope":"BROAD","text":"Agnathia"},{"scope":"EXACT","text":"Aplasia of the lower jaw bone"},{"scope":"EXACT","text":"Failure of development of lower jaw"},{"scope":"EXACT","text":"Failure of development of mandible"},{"scope":"EXACT","text":"Missing lower jaw"}]} +{"alt_ids":[],"definition":"Lack of symmetry between the left and right mandible.","id":"HP:0009940","name":"Asymmetry of the mandible","obsolete":false,"parents":["HP:0000277"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Asymmetry of lower jaw"},{"scope":"EXACT","text":"Canted lower jaw"},{"scope":"EXACT","text":"Canted mandible"},{"scope":"EXACT","text":"Crooked lower jaw"},{"scope":"EXACT","text":"Deviation of lower jaw"},{"scope":"EXACT","text":"Deviation of mandible"},{"scope":"RELATED","text":"Deviation of the lower jaw"},{"scope":"RELATED","text":"Deviation of the mandible"},{"scope":"EXACT","text":"Lower jaw shifted to one side"},{"scope":"EXACT","text":"Tilted lower jaw"},{"scope":"BROAD","text":"Tilted mandible"},{"scope":"EXACT","text":"Uneven lower jaw"},{"scope":"EXACT","text":"Uneven mandible"}]} +{"alt_ids":[],"definition":"The presence of an asymmetric mouth.","id":"HP:0009941","name":"Asymmetry of the mouth","obsolete":false,"parents":["HP:0011338"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Asymmetry of oral cavity"},{"scope":"EXACT","text":"Asymmetry of the mouth"},{"scope":"EXACT","text":"Canted mouth"},{"scope":"EXACT","text":"Crooked mouth"},{"scope":"EXACT","text":"Tilted mouth"},{"scope":"EXACT","text":"Uneven mouth"}]} +{"alt_ids":["HP:0009661"],"definition":"Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.","id":"HP:0009942","name":"Duplication of thumb phalanx","obsolete":false,"parents":["HP:0009602","HP:0009997"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete/partial duplication of phalanges of the thumb"},{"scope":"RELATED","text":"Duplicated thumb"},{"scope":"EXACT","text":"Duplicated thumbs"},{"scope":"EXACT","text":"Duplication of phalanx of thumb"}]} +{"alt_ids":["HP:0002801","HP:0004067"],"definition":"A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.","id":"HP:0009943","name":"Complete duplication of thumb phalanx","obsolete":false,"parents":["HP:0009942","HP:0009998"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of the phalanges of the thumb"},{"scope":"EXACT","text":"Complete duplication of thumb bones"},{"scope":"EXACT","text":"Digitalization of thumb"},{"scope":"EXACT","text":"Digitalization of thumbs"}]} +{"alt_ids":["HP:0001244","HP:0004070"],"definition":"A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.","id":"HP:0009944","name":"Partial duplication of thumb phalanx","obsolete":false,"parents":["HP:0009942","HP:0009999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bifid thumb"},{"scope":"EXACT","text":"Notching of thumb phalanges"},{"scope":"EXACT","text":"Partial duplication of the phalanges of the thumb"},{"scope":"EXACT","text":"Partial duplication of the thumb bones"}]} +{"alt_ids":[],"definition":"This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.","id":"HP:0009945","name":"Duplication of phalanx of 2nd finger","obsolete":false,"parents":["HP:0009541","HP:0009946"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplication of the bones of index finger"},{"scope":"EXACT","text":"Partial/complete duplication of phalanges of the 2nd finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009946","name":"Polydactyly affecting the 2nd finger","obsolete":false,"parents":["HP:0004100","HP:0006159"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extra index finger"}]} +{"alt_ids":[],"definition":"Partial or complete duplication of the second proximal phalanx of hand.","id":"HP:0009947","name":"Duplication of the proximal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009544","HP:0009945","HP:0010006"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplication of the proximal bone of the index finger"},{"scope":"EXACT","text":"Partial/complete duplication of the proximal phalanx of the 2nd finger"}]} +{"alt_ids":["HP:0004144"],"definition":"Partial or complete duplication of the distal phalanx of index finger.","id":"HP:0009948","name":"Duplication of the distal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009542","HP:0009883","HP:0009945"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial/complete duplication of the distal phalanx of the 2nd finger"},{"scope":"EXACT","text":"Partial/complete duplication of the outermost bone of the index finger"}]} +{"alt_ids":[],"definition":"Partial or complete duplication of the middle phalanx of index finger.","id":"HP:0009949","name":"Duplication of the middle phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009543","HP:0009945","HP:0010008"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial/complete duplication of the middle bone of the index finger"},{"scope":"EXACT","text":"Partial/complete duplication of the middle phalanx of the 2nd finger"}]} +{"alt_ids":[],"definition":"Complete duplication of the distal phalanx of index finger.","id":"HP:0009950","name":"Complete duplication of the distal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009948","HP:0009957","HP:0010001"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of the outermost bone of the index finger"}]} +{"alt_ids":[],"definition":"Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.","id":"HP:0009951","name":"Partial duplication of the distal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009948","HP:0009956","HP:0010004"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bifid terminal phalanx of the 2nd finger"},{"scope":"EXACT","text":"Notched outermost bone of the index finger"},{"scope":"EXACT","text":"Partial duplication of the outermost bone of the 2nd finger"}]} +{"alt_ids":[],"definition":"Complete duplication of the middle phalanx of index finger.","id":"HP:0009952","name":"Complete duplication of the middle phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009949","HP:0009957","HP:0010002"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of the middle bone of the index finger"}]} +{"alt_ids":[],"definition":"Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.","id":"HP:0009953","name":"Partial duplication of the middle phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009949","HP:0009956","HP:0010005"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial duplication of the middle bone of the index finger"}]} +{"alt_ids":[],"definition":"Complete duplication of the second proximal phalanx of hand.","id":"HP:0009954","name":"Complete duplication of the proximal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009947","HP:0009957","HP:0010000"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of the proximal bone of the index finger"}]} +{"alt_ids":[],"definition":"Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.","id":"HP:0009955","name":"Partial duplication of the proximal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0009947","HP:0009956","HP:0010003"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial duplication of the proximal bones of the index finger"}]} +{"alt_ids":[],"definition":"A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.","id":"HP:0009956","name":"Partial duplication of the phalanges of the 2nd finger","obsolete":false,"parents":["HP:0009945","HP:0009999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial duplication of the bones of the index finger"}]} +{"alt_ids":[],"definition":"A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.","id":"HP:0009957","name":"Complete duplication of the phalanges of the 2nd finger","obsolete":false,"parents":["HP:0009945","HP:0009998"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of the bones of the index finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009958","name":"Polydactyly affecting the 3rd finger","obsolete":false,"parents":["HP:0004150","HP:0006159"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extra middle finger"}]} +{"alt_ids":[],"definition":"This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.","id":"HP:0009959","name":"Duplication of phalanx of 3rd finger","obsolete":false,"parents":["HP:0009316","HP:0009958"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplication of middle finger bone"},{"scope":"EXACT","text":"Partial/complete duplication of phalanges of the 3rd finger"}]} +{"alt_ids":[],"definition":"A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.","id":"HP:0009960","name":"Complete duplication of the phalanges of the 3rd finger","obsolete":false,"parents":["HP:0009959","HP:0009998"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of middle finger bones"}]} +{"alt_ids":[],"definition":"A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.","id":"HP:0009961","name":"Partial duplication of the phalanges of the 3rd finger","obsolete":false,"parents":["HP:0009959","HP:0009999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial duplication of middle finger bones"}]} +{"alt_ids":[],"definition":"Partial or complete duplication of the distal phalanx of middle finger.","id":"HP:0009962","name":"Duplication of the distal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009357","HP:0009883","HP:0009959"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial/complete duplication of the distal phalanx of the 3rd finger"},{"scope":"EXACT","text":"Partial/complete duplication of the outermost bone of the middle finger"}]} +{"alt_ids":["HP:0004157","HP:0004174"],"definition":"Partial or complete duplication of the middle phalanx of middle finger.","id":"HP:0009963","name":"Duplication of the middle phalanx of the 3rd finger","obsolete":false,"parents":["HP:0004172","HP:0009959","HP:0010008"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplication of the middle bone of the middle finger"},{"scope":"EXACT","text":"Partial/complete duplication of the middle phalanx of the 3rd finger"}]} +{"alt_ids":[],"definition":"Partial or complete duplication of the third proximal phalanx of hand.","id":"HP:0009964","name":"Duplication of the proximal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009358","HP:0009959","HP:0010006"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplication of the proximal bone of the middle finger"},{"scope":"EXACT","text":"Partial/complete duplication of the proximal phalanx of the 3rd finger"}]} +{"alt_ids":[],"definition":"Complete duplication of the distal phalanx of middle finger","id":"HP:0009965","name":"Complete duplication of the distal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009960","HP:0009962","HP:0010001"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of the outermost bone of the 3rd finger"}]} +{"alt_ids":[],"definition":"Complete duplication of the middle phalanx of middle finger.","id":"HP:0009966","name":"Complete duplication of the middle phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009960","HP:0009963","HP:0010002"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of the middle bone of the middle finger"}]} +{"alt_ids":[],"definition":"Complete duplication of the third proximal phalanx of hand.","id":"HP:0009967","name":"Complete duplication of the proximal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009960","HP:0009964","HP:0010000"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of the innermost bone of the 3rd finger"}]} +{"alt_ids":[],"definition":"Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx.","id":"HP:0009968","name":"Partial duplication of the distal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009961","HP:0009962","HP:0010004"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bifid terminal phalanx of the 3rd finger"},{"scope":"EXACT","text":"Notched outermost bone of the middle finger"},{"scope":"EXACT","text":"Partial duplication of the outermost bone of the middle finger"}]} +{"alt_ids":[],"definition":"Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx.","id":"HP:0009969","name":"Partial duplication of the middle phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009961","HP:0009963","HP:0010005"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial duplication of the middle bone of the 3rd finger"}]} +{"alt_ids":[],"definition":"Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.","id":"HP:0009970","name":"Partial duplication of the proximal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0009961","HP:0009964","HP:0010003"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial duplication of the proximal bone of the middle finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0009971","name":"Polydactyly affecting the 4th finger","obsolete":false,"parents":["HP:0004188","HP:0006159"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extra ring finger"}]} +{"alt_ids":[],"definition":"This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.","id":"HP:0009972","name":"Duplication of phalanx of 4th finger","obsolete":false,"parents":["HP:0009172","HP:0009971"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplication of bones of the ring finger"},{"scope":"EXACT","text":"Partial/complete duplication of phalanges of the 4th finger"}]} +{"alt_ids":[],"definition":"A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.","id":"HP:0009973","name":"Complete duplication of the phalanges of the 4th finger","obsolete":false,"parents":["HP:0009972","HP:0009998"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of the bones of the ring finger"}]} +{"alt_ids":[],"definition":"A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.","id":"HP:0009974","name":"Partial duplication of the phalanges of the 4th finger","obsolete":false,"parents":["HP:0009972","HP:0009999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial duplication of the bones of the ring finger"}]} +{"alt_ids":[],"definition":"Partial or complete duplication of the distal phalanx of ring finger.","id":"HP:0009975","name":"Duplication of the distal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009282","HP:0009883","HP:0009972"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial/complete duplication of the distal phalanx of the 4th finger"},{"scope":"EXACT","text":"Partial/complete duplication of the outermost bone of the ring finger"}]} +{"alt_ids":[],"definition":"Partial or complete duplication of the middle phalanx of ring finger.","id":"HP:0009976","name":"Duplication of the middle phalanx of the 4th finger","obsolete":false,"parents":["HP:0009283","HP:0009972","HP:0010008"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial/complete duplication of the middle bone of the ring finger"},{"scope":"EXACT","text":"Partial/complete duplication of the middle phalanx of the 4th finger"}]} +{"alt_ids":[],"definition":"Partial or complete duplication of the fourth proximal phalanx of hand.","id":"HP:0009977","name":"Duplication of the proximal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009284","HP:0009972","HP:0010006"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplication of the proximal bone of the ring finger"},{"scope":"EXACT","text":"Partial/complete duplication of the proximal phalanx of the 4th finger"}]} +{"alt_ids":[],"definition":"Complete duplication of the distal phalanx of ring finger.","id":"HP:0009978","name":"Complete duplication of the distal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009973","HP:0009975","HP:0010001"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of the outermost bone of the ring finger"}]} +{"alt_ids":[],"definition":"Complete duplication of the middle phalanx of ring finger.","id":"HP:0009979","name":"Complete duplication of the middle phalanx of the 4th finger","obsolete":false,"parents":["HP:0009973","HP:0009976","HP:0010002"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of the middle bone of the ring finger"}]} +{"alt_ids":[],"definition":"Complete duplication of the fourth proximal phalanx of hand.","id":"HP:0009980","name":"Complete duplication of the proximal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009973","HP:0009977","HP:0010000"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of the proximal bone of the ring finger"}]} +{"alt_ids":[],"definition":"Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx.","id":"HP:0009981","name":"Partial duplication of the distal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009974","HP:0009975","HP:0010004"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bifid terminal phalanx of the 4th finger"},{"scope":"EXACT","text":"Notched outermost bone of the ring finger"},{"scope":"EXACT","text":"Partial duplication of the outermost bone of the ring finger"}]} +{"alt_ids":[],"definition":"Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx.","id":"HP:0009982","name":"Partial duplication of the middle phalanx of the 4th finger","obsolete":false,"parents":["HP:0009974","HP:0009976","HP:0010005"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial duplication of the middle bone of the ring finger"}]} +{"alt_ids":[],"definition":"Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.","id":"HP:0009983","name":"Partial duplication of the proximal phalanx of the 4th finger","obsolete":false,"parents":["HP:0009974","HP:0009977","HP:0010003"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial duplication of the innermost bone of the ring finger"}]} +{"alt_ids":[],"definition":"This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.","id":"HP:0009985","name":"Duplication of phalanx of 5th finger","obsolete":false,"parents":["HP:0004213","HP:0009997"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial/complete duplication of little finger bone"},{"scope":"EXACT","text":"Partial/complete duplication of phalanges of the 5th finger"},{"scope":"EXACT","text":"Partial/complete duplication of pinkie finger bone"},{"scope":"EXACT","text":"Partial/complete duplication of pinky finger bone"}]} +{"alt_ids":[],"definition":"A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.","id":"HP:0009986","name":"Complete duplication of the phalanges of the 5th finger","obsolete":false,"parents":["HP:0009985","HP:0009998"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of the little finger bone"},{"scope":"EXACT","text":"Complete duplication of the pinkie finger bone"},{"scope":"EXACT","text":"Complete duplication of the pinky finger bone"}]} +{"alt_ids":[],"definition":"A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.","id":"HP:0009987","name":"Partial duplication of the phalanges of the 5th finger","obsolete":false,"parents":["HP:0009985","HP:0009999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial duplication of the little finger bone"},{"scope":"EXACT","text":"Partial duplication of the pinkie finger bone"},{"scope":"EXACT","text":"Partial duplication of the pinky finger bone"}]} +{"alt_ids":[],"definition":"Partial or complete duplication of the distal phalanx of little finger.","id":"HP:0009988","name":"Duplication of the distal phalanx of the 5th finger","obsolete":false,"parents":["HP:0004225","HP:0009883","HP:0009985"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplication of the outermost little finger bone"},{"scope":"EXACT","text":"Duplication of the outermost pinkie finger bone"},{"scope":"EXACT","text":"Duplication of the outermost pinky finger bone"},{"scope":"EXACT","text":"Partial/complete duplication of the distal phalanx of the 5th finger"}]} +{"alt_ids":[],"definition":"Partial or complete duplication of the fifth middle phalanx of hand.","id":"HP:0009989","name":"Duplication of the middle phalanx of the 5th finger","obsolete":false,"parents":["HP:0004219","HP:0009985","HP:0010008"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplication of the middle little finger bone"},{"scope":"EXACT","text":"Duplication of the middle pinkie finger bone"},{"scope":"EXACT","text":"Duplication of the middle pinky finger bone"},{"scope":"EXACT","text":"Partial/complete duplication of the middle phalanx of the 5th finger"}]} +{"alt_ids":[],"definition":"Partial or complete duplication of the fifth proximal phalanx of hand.","id":"HP:0009990","name":"Duplication of the proximal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009150","HP:0009985","HP:0010006"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplication of the innermost little finger bone"},{"scope":"EXACT","text":"Duplication of the innermost pinkie finger bone"},{"scope":"EXACT","text":"Duplication of the innermost pinky finger bone"},{"scope":"EXACT","text":"Partial/complete duplication of the proximal phalanx of the 5th finger"}]} +{"alt_ids":[],"definition":"Complete duplication of the distal phalanx of little finger.","id":"HP:0009991","name":"Complete duplication of the distal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009986","HP:0009988","HP:0010001"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of the outermost little finger bone"},{"scope":"EXACT","text":"Complete duplication of the outermost pinkie finger bone"},{"scope":"EXACT","text":"Complete duplication of the outermost pinky finger bone"}]} +{"alt_ids":[],"definition":"Complete duplication of the fifth middle phalanx of hand.","id":"HP:0009992","name":"Complete duplication of the middle phalanx of the 5th finger","obsolete":false,"parents":["HP:0009986","HP:0009989","HP:0010002"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of the middle little finger bone"},{"scope":"EXACT","text":"Complete duplication of the middle pinkie finger bone"},{"scope":"EXACT","text":"Complete duplication of the middle pinky finger bone"}]} +{"alt_ids":[],"definition":"Complete duplication of the fifth proximal phalanx of hand.","id":"HP:0009993","name":"Complete duplication of the proximal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009986","HP:0009990","HP:0010000"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of the innermost little finger bone"},{"scope":"EXACT","text":"Complete duplication of the innermost pinkie finger bone"},{"scope":"EXACT","text":"Complete duplication of the innermost pinky finger bone"}]} +{"alt_ids":[],"definition":"Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx.","id":"HP:0009994","name":"Partial duplication of the distal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009987","HP:0009988","HP:0010004"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bifid terminal phalanx of the 5th finger"},{"scope":"EXACT","text":"Notched outermost pinky finger bone"},{"scope":"EXACT","text":"Partial duplication of outermost little finger bone"},{"scope":"EXACT","text":"Partial duplication of outermost pinkie finger bone"},{"scope":"EXACT","text":"Partial duplication of outermost pinky finger bone"}]} +{"alt_ids":[],"definition":"Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.","id":"HP:0009995","name":"Partial duplication of the middle phalanx of the 5th finger","obsolete":false,"parents":["HP:0009987","HP:0009989","HP:0010005"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial duplication of the middle little finger bone"},{"scope":"EXACT","text":"Partial duplication of the middle pinkie finger bone"},{"scope":"EXACT","text":"Partial duplication of the middle pinky finger bone"}]} +{"alt_ids":[],"definition":"Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.","id":"HP:0009996","name":"Partial duplication of the proximal phalanx of the 5th finger","obsolete":false,"parents":["HP:0009987","HP:0009990","HP:0010003"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial duplication of the innermost little finger bone"},{"scope":"EXACT","text":"Partial duplication of the innermost pinkie finger bone"},{"scope":"EXACT","text":"Partial duplication of the innermost pinky finger bone"}]} +{"alt_ids":["HP:0009143"],"definition":"This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.","id":"HP:0009997","name":"Duplication of phalanx of hand","obsolete":false,"parents":["HP:0004275","HP:0005918"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplication of finger bones"}]} +{"alt_ids":[],"definition":"A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.","id":"HP:0009998","name":"Complete duplication of phalanx of hand","obsolete":false,"parents":["HP:0009997"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of hand bones"}]} +{"alt_ids":[],"definition":"A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.","id":"HP:0009999","name":"Partial duplication of the phalanx of hand","obsolete":false,"parents":["HP:0009997"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial duplication of hand bones"}]} +{"alt_ids":[],"definition":"A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.","id":"HP:0010000","name":"Complete duplication of the proximal phalanges of the hand","obsolete":false,"parents":["HP:0009998","HP:0010006"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of the innermost bones of the hand"}]} +{"alt_ids":[],"definition":"A complete duplication affecting one or more of the distal phalanges of the hand.","id":"HP:0010001","name":"Complete duplication of the distal phalanges of the hand","obsolete":false,"parents":["HP:0009883","HP:0009998"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of the outermost bones of the hand"}]} +{"alt_ids":[],"definition":"A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism.","id":"HP:0010002","name":"Complete duplication of the middle phalanges of the hand","obsolete":false,"parents":["HP:0009998","HP:0010008"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of the middle bones of the hand"}]} +{"alt_ids":[],"definition":"A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.","id":"HP:0010003","name":"Partial duplication of the proximal phalanges of the hand","obsolete":false,"parents":["HP:0009999","HP:0010006"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial duplication of the innermost bones of the hand"}]} +{"alt_ids":["HP:0006196"],"definition":"A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.","id":"HP:0010004","name":"Partial duplication of the distal phalanges of the hand","obsolete":false,"parents":["HP:0009883","HP:0009999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bifid terminal phalanges of the hand"},{"scope":"EXACT","text":"Partial duplication of the outermost bone of the hand"}]} +{"alt_ids":[],"definition":"A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.","id":"HP:0010005","name":"Partial duplication of the middle phalanges of the hand","obsolete":false,"parents":["HP:0009999","HP:0010008"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial duplication of the middle bones of hand"}]} +{"alt_ids":[],"definition":"This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.","id":"HP:0010006","name":"Duplication of the proximal phalanx of hand","obsolete":false,"parents":["HP:0009997"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplication of the innermost bones of hand"},{"scope":"EXACT","text":"Partial/complete duplication of the proximal phalanges of the hand"}]} +{"alt_ids":[],"definition":"This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.","id":"HP:0010008","name":"Duplication of the middle phalanx of hand","obsolete":false,"parents":["HP:0009833","HP:0009834","HP:0009997"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplication of the middle bones of hand"},{"scope":"EXACT","text":"Partial/complete duplication of the middle phalanges of the hand"}]} +{"alt_ids":[],"definition":"A structural anomaly of the first metacarpal.","id":"HP:0010009","name":"Abnormal 1st metacarpal morphology","obsolete":false,"parents":["HP:0005916"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the 1st long bone of hand"},{"scope":"EXACT","text":"Abnormality of the 1st metacarpal"}]} +{"alt_ids":[],"definition":"Any abnormality of the second metacarpal bone.","id":"HP:0010010","name":"Abnormal 2nd metacarpal morphology","obsolete":false,"parents":["HP:0005916"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the 2nd long bone of hand"},{"scope":"EXACT","text":"Abnormality of the 2nd metacarpal"}]} +{"alt_ids":[],"definition":"Any abnormality of the third metacarpal bone.","id":"HP:0010011","name":"Abnormal 3rd metacarpal morphology","obsolete":false,"parents":["HP:0005916"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the 3rd long bone of hand"},{"scope":"EXACT","text":"Abnormality of the 3rd metacarpal"}]} +{"alt_ids":[],"definition":"Any abnormality of the fourth metacarpal bone.","id":"HP:0010012","name":"Abnormal 4th metacarpal morphology","obsolete":false,"parents":["HP:0005916"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the 4th long bone of hand"},{"scope":"EXACT","text":"Abnormality of the 4th metacarpal"}]} +{"alt_ids":[],"definition":"Any abnormality of the fifth metacarpal bone.","id":"HP:0010013","name":"Abnormal 5th metacarpal morphology","obsolete":false,"parents":["HP:0005916"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the 5th long bone of hand"},{"scope":"EXACT","text":"Abnormality of the 5th metacarpal"}]} +{"alt_ids":[],"definition":"In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays.","id":"HP:0010014","name":"Abnormality of the epiphysis of the 1st metacarpal","obsolete":false,"parents":["HP:0005913","HP:0010009","HP:0010245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the 1st long bone of hand"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010015","name":"Absent epiphysis of the 1st metacarpal","obsolete":false,"parents":["HP:0009196","HP:0010014","HP:0010268"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of the 1st long bone of hand"}]} +{"alt_ids":[],"definition":"An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate.","id":"HP:0010016","name":"Bracket epiphysis of the 1st metacarpal","obsolete":false,"parents":["HP:0010014","HP:0010269","HP:0200050"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of 1st long bone of hand"}]} +{"alt_ids":[],"definition":"A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance.","id":"HP:0010017","name":"Cone-shaped epiphysis of the 1st metacarpal","obsolete":false,"parents":["HP:0006059","HP:0010014","HP:0010270"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of the 1st long bone of hand"}]} +{"alt_ids":[],"definition":"Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms.","id":"HP:0010018","name":"Enlarged epiphysis of the 1st metacarpal","obsolete":false,"parents":["HP:0006134","HP:0010014","HP:0010271"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of the 1st long bone of hand"}]} +{"alt_ids":[],"definition":"Epiphysis of the 1st metacarpal having multiple bony fragments.","id":"HP:0010019","name":"Fragmentation of the epiphysis of the 1st metacarpal","obsolete":false,"parents":["HP:0009189","HP:0010014","HP:0010272"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of the end part of the 1st long bone of hand"}]} +{"alt_ids":[],"definition":"Uneven radiographic opacity of the epiphysis of the 1st metacarpal.","id":"HP:0010020","name":"Irregular epiphysis of the 1st metacarpal","obsolete":false,"parents":["HP:0009190","HP:0010014","HP:0010273"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of the 1st long bone of hand"}]} +{"alt_ids":[],"definition":"The epiphysis of the 1st metacarpal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs.","id":"HP:0010021","name":"Ivory epiphysis of the 1st metacarpal","obsolete":false,"parents":["HP:0009191","HP:0010014","HP:0010274"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the 1st long bone of hand"}]} +{"alt_ids":[],"definition":"The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal.","id":"HP:0010022","name":"Pseudoepiphysis of the 1st metacarpal","obsolete":false,"parents":["HP:0009193","HP:0010014","HP:0010275"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms.","id":"HP:0010023","name":"Small epiphysis of the 1st metacarpal","obsolete":false,"parents":["HP:0009194","HP:0010014","HP:0010276"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of the 1st long bone of hand"}]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone.","id":"HP:0010024","name":"Epiphyseal stippling of the first metacarpal","obsolete":false,"parents":["HP:0009195","HP:0010014","HP:0010277"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in the end part of the first long bone of hand"},{"scope":"EXACT","text":"Stippling of the epiphysis of the 1st metacarpal"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010025","name":"Triangular epiphysis of the 1st metacarpal","obsolete":false,"parents":["HP:0009171","HP:0009696","HP:0010014"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular end part of the 1st long bone of hand"}]} +{"alt_ids":[],"definition":"Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).","id":"HP:0010026","name":"Aplasia/Hypoplasia of the 1st metacarpal","obsolete":false,"parents":["HP:0005914","HP:0009658","HP:0010009"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small 1st long bone of hand"},{"scope":"EXACT","text":"Absent/underdeveloped 1st long bone of hand"}]} +{"alt_ids":[],"definition":"Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.","id":"HP:0010027","name":"Broad 1st metacarpal","obsolete":false,"parents":["HP:0001230","HP:0009852","HP:0010009"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide 1st long bone of hand"}]} +{"alt_ids":[],"definition":"The presence of short and wide 1st metacarpal which tapers distally (\"bullet shaped\").","id":"HP:0010028","name":"Bullet-shaped 1st metacarpal","obsolete":false,"parents":["HP:0010009"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped 1st long bone of hand"},{"scope":"RELATED","text":"Tapered 1st metacarpal"}]} +{"alt_ids":[],"definition":"A deviation from the normal straight shape of the first metacarpal.","id":"HP:0010029","name":"Curved 1st metacarpal","obsolete":false,"parents":["HP:0010009"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved 1st long bone of hand"}]} +{"alt_ids":[],"definition":"Dissolution or degeneration of bone tissue of the 1st metacarpal.","id":"HP:0010030","name":"Osteolytic defects of the 1st metacarpal","obsolete":false,"parents":["HP:0001504","HP:0010009"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Uneven increase in bone density within the 1st metacarpal.","id":"HP:0010031","name":"Patchy sclerosis of the 1st metacarpal","obsolete":false,"parents":["HP:0010009","HP:0100914"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uneven increase in bone density in 1st long bone of hand"}]} +{"alt_ids":[],"definition":"This term applies to a triangular shaped 1st metacarpal.","id":"HP:0010033","name":"Triangular shaped 1st metacarpal","obsolete":false,"parents":["HP:0010009"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped 1st long bone of hand"}]} +{"alt_ids":["HP:0001190","HP:0001499","HP:0005898","HP:0006141"],"definition":"A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.","id":"HP:0010034","name":"Short 1st metacarpal","obsolete":false,"parents":["HP:0009660","HP:0010026","HP:0010049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"First metacarpal hypoplasia"},{"scope":"EXACT","text":"First metacarpals hypoplastic"},{"scope":"EXACT","text":"Hypoplastic 1st metacarpal"},{"scope":"EXACT","text":"Short first metacarpal"},{"scope":"EXACT","text":"Short first metacarpals"},{"scope":"EXACT","text":"Shortened 1st long bone of hand"}]} +{"alt_ids":["HP:0006027"],"definition":"Absent first metacarpal (long bone) of the hand.","id":"HP:0010035","name":"Aplasia of the 1st metacarpal","obsolete":false,"parents":["HP:0009659","HP:0010026","HP:0010048","HP:0010242"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent 1st long bone of hand"},{"scope":"EXACT","text":"Absent first metacarpal"}]} +{"alt_ids":[],"definition":"Aplasia or Hypoplasia affecting the 2nd metacarpal.","id":"HP:0010036","name":"Aplasia/Hypoplasia of the 2nd metacarpal","obsolete":false,"parents":["HP:0005914","HP:0010010"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small 2nd long bone of hand"},{"scope":"EXACT","text":"Absent/underdeveloped 2nd long bone of hand"}]} +{"alt_ids":[],"definition":"Absence of the second long bone of the hand.","id":"HP:0010037","name":"Aplasia of the 2nd metacarpal","obsolete":false,"parents":["HP:0010036","HP:0010048"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent 2nd long bone of hand"}]} +{"alt_ids":["HP:0006231"],"definition":"Short second metacarpal bone because of developmental hypoplasia.","id":"HP:0010038","name":"Short 2nd metacarpal","obsolete":false,"parents":["HP:0010036","HP:0010049"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Hypoplastic 2nd metacarpal"},{"scope":"EXACT","text":"Rudimentary 2nd metacarpal"},{"scope":"EXACT","text":"Shortened 2nd long bone of hand"}]} +{"alt_ids":[],"definition":"Aplasia or Hypoplasia affecting the 3rd metacarpal.","id":"HP:0010039","name":"Aplasia/Hypoplasia of the 3rd metacarpal","obsolete":false,"parents":["HP:0005914","HP:0010011"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small 3rd long bone of hand"},{"scope":"EXACT","text":"Absent/underdeveloped 3rd long bone of hand"}]} +{"alt_ids":[],"definition":"Absence of the third long bone of the hand.","id":"HP:0010040","name":"Aplasia of the 3rd metacarpal","obsolete":false,"parents":["HP:0010039","HP:0010048"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent 3rd long bone of hand"}]} +{"alt_ids":["HP:0005624","HP:0006074","HP:0006120"],"definition":"Short third metacarpal bone.","id":"HP:0010041","name":"Short 3rd metacarpal","obsolete":false,"parents":["HP:0010039","HP:0010049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic 3rd metacarpal"},{"scope":"EXACT","text":"Short third metacarpals"},{"scope":"EXACT","text":"Shortened 3rd long bone of hand"},{"scope":"EXACT","text":"Small 3rd metacarpals"}]} +{"alt_ids":[],"definition":"Aplasia or Hypoplasia affecting the 4th metacarpal.","id":"HP:0010042","name":"Aplasia/Hypoplasia of the 4th metacarpal","obsolete":false,"parents":["HP:0005914","HP:0010012"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small 4th long bone of hand"},{"scope":"EXACT","text":"Absent/underdeveloped 4th long bone of hand"}]} +{"alt_ids":[],"definition":"Absence of the fourth long bone of the hand.","id":"HP:0010043","name":"Aplasia of the 4th metacarpal","obsolete":false,"parents":["HP:0010042","HP:0010048"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent 4th long bone of hand"}]} +{"alt_ids":["HP:0005094"],"definition":"Short fourth metacarpal bone.","id":"HP:0010044","name":"Short 4th metacarpal","obsolete":false,"parents":["HP:0010042","HP:0010049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic fourth metacarpal"},{"scope":"EXACT","text":"Short 4th metacarpals"},{"scope":"EXACT","text":"Short fourth metacarpals"},{"scope":"EXACT","text":"Shortened 4th long bone of hand"}]} +{"alt_ids":[],"definition":"Aplasia or Hypoplasia affecting the 5th metacarpal.","id":"HP:0010045","name":"Aplasia/Hypoplasia of the 5th metacarpal","obsolete":false,"parents":["HP:0005914","HP:0010013"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small 5th long bone of hand"},{"scope":"EXACT","text":"Absent/underdeveloped 5th long bone of hand"}]} +{"alt_ids":["HP:0006103"],"definition":"Absence of the fifth long bone of the hand.","id":"HP:0010046","name":"Aplasia of the 5th metacarpal","obsolete":false,"parents":["HP:0010045","HP:0010048"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent 5th long bone of hand"},{"scope":"EXACT","text":"Absent 5th metacarpal"}]} +{"alt_ids":["HP:0005737","HP:0006004","HP:0006222"],"definition":"Short fifth metacarpal bone.","id":"HP:0010047","name":"Short 5th metacarpal","obsolete":false,"parents":["HP:0010045","HP:0010049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fifth metacarpal hypoplasia"},{"scope":"EXACT","text":"Hypoplastic 5th metacarpal"},{"scope":"EXACT","text":"Short fifth metacarpal"},{"scope":"EXACT","text":"Short fifth metacarpals"},{"scope":"EXACT","text":"Shortened 5th long bone of hand"}]} +{"alt_ids":["HP:0005911"],"definition":"Developmental defect associated with absence of one or more metacarpal bones.","id":"HP:0010048","name":"Aplasia of metacarpal bones","obsolete":false,"parents":["HP:0005914"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent long bone of hand"},{"scope":"EXACT","text":"Absent metacarpal"},{"scope":"EXACT","text":"Absent metacarpals"}]} +{"alt_ids":["HP:0001164","HP:0005695","HP:0005717","HP:0005909","HP:0006047","HP:0006183","HP:0006186"],"definition":"Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.","id":"HP:0010049","name":"Short metacarpal","obsolete":false,"parents":["HP:0003026","HP:0005914"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brachymetacarpalia"},{"scope":"EXACT","text":"Hypoplastic metacarpal"},{"scope":"EXACT","text":"Metacarpal hypoplasia"},{"scope":"RELATED","text":"Short metacarpal bones"},{"scope":"EXACT","text":"Short metacarpals"},{"scope":"EXACT","text":"Shortened long bone of hand"},{"scope":"EXACT","text":"Shortened long bones of hand"},{"scope":"EXACT","text":"Shortened metacarpals"},{"scope":"EXACT","text":"Shortening of metacarpals"}]} +{"alt_ids":["HP:0004700"],"definition":"Displacement of the big toe from its normal position.","id":"HP:0010051","name":"Deviation of the hallux","obsolete":false,"parents":["HP:0001844","HP:0100498"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Displacement of big toe"},{"scope":"EXACT","text":"Displacement of the hallux"}]} +{"alt_ids":[],"definition":"An abnormal shape or form of the proximal phalanx of the big toe.","id":"HP:0010052","name":"Abnormal morphology of the proximal phalanx of the hallux","obsolete":false,"parents":["HP:0010057","HP:0010183"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal innermost big toe bone"},{"scope":"EXACT","text":"Abnormality of the proximal phalanx of the hallux"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010053","name":"Abnormality of the distal phalanx of the hallux","obsolete":false,"parents":["HP:0010057","HP:0010182"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the outermost bone of the big toe"}]} +{"alt_ids":[],"definition":"An anomaly of the first metatarsal bone.","id":"HP:0010054","name":"Abnormality of the first metatarsal bone","obsolete":false,"parents":["HP:0001832"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the 1st long bone of foot"}]} +{"alt_ids":["HP:0001834","HP:0003094","HP:0004710","HP:0005883"],"definition":"Visible increase in width of the hallux without an increase in the dorso-ventral dimension.","id":"HP:0010055","name":"Broad hallux","obsolete":false,"parents":["HP:0001837","HP:0001844"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormally broad great toes"},{"scope":"EXACT","text":"Broad big toe"},{"scope":"EXACT","text":"Broad great toe"},{"scope":"EXACT","text":"Broad great toes"},{"scope":"EXACT","text":"Broad halluces"},{"scope":"EXACT","text":"Wide big toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010056","name":"Abnormality of the epiphyses of the hallux","obsolete":false,"parents":["HP:0001844","HP:0010160"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the big toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010057","name":"Abnormal hallux phalanx morphology","obsolete":false,"parents":["HP:0001844","HP:0010161"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal big toe bones"},{"scope":"EXACT","text":"Abnormality of the phalanges of the hallux"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010058","name":"Aplasia/Hypoplasia of the phalanges of the hallux","obsolete":false,"parents":["HP:0008362","HP:0010057","HP:0010173"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small big toe bone"},{"scope":"EXACT","text":"Absent/underdeveloped big toe bone"}]} +{"alt_ids":[],"definition":"An increase in width in one or more phalanges of the big toe.","id":"HP:0010059","name":"Broad hallux phalanx","obsolete":false,"parents":["HP:0010057","HP:0010174"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad bone of big toe"},{"scope":"EXACT","text":"Broad phalanges of the hallux"},{"scope":"EXACT","text":"Wide bone of big toe"}]} +{"alt_ids":[],"definition":"An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.","id":"HP:0010060","name":"Bullet-shaped hallux phalanx","obsolete":false,"parents":["HP:0010057","HP:0010175"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped bone of big toe"},{"scope":"EXACT","text":"Bullet-shaped phalanges of the hallux"}]} +{"alt_ids":[],"definition":"A deviation from the normal straight form of one or more phalanges of the big toe.","id":"HP:0010061","name":"Curved hallux phalanx","obsolete":false,"parents":["HP:0010057","HP:0010176"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curve bones of big toe"},{"scope":"EXACT","text":"Curved phalanges of the hallux"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010062","name":"Osteolytic defects of the phalanges of the hallux","obsolete":false,"parents":["HP:0010057","HP:0010177"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.","id":"HP:0010063","name":"Patchy sclerosis of hallux phalanx","obsolete":false,"parents":["HP:0010057","HP:0010178","HP:0100930"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Patchy sclerosis of the phalanges of the hallux"},{"scope":"EXACT","text":"Uneven increase in bone density in big toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010064","name":"obsolete Symphalangism affecting the phalanges of the hallux","obsolete":true,"parents":[],"replaced_by":["HP:0010091"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0010065","name":"Triangular shaped phalanges of the hallux","obsolete":false,"parents":["HP:0010057","HP:0010180"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped bones of big toe"}]} +{"alt_ids":["HP:0001784","HP:0005785","HP:0005851"],"definition":"Partial or complete duplication of one or more phalanx of big toe.","id":"HP:0010066","name":"Duplication of phalanx of hallux","obsolete":false,"parents":["HP:0010057","HP:0010181"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplicated hallux"},{"scope":"EXACT","text":"Duplication of big toe bone"},{"scope":"EXACT","text":"Duplication of great toes"},{"scope":"EXACT","text":"Duplication of phalanx of big toe"},{"scope":"EXACT","text":"Hallucal duplication"},{"scope":"NARROW","text":"Partial/complete duplication of the phalanges of the hallux"}]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the first metatarsal bone.","id":"HP:0010067","name":"Aplasia/hypoplasia of the 1st metatarsal","obsolete":false,"parents":["HP:0010054"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small 1st long bone of foot"},{"scope":"EXACT","text":"Absent/underdeveloped 1st long bone of foot"}]} +{"alt_ids":["HP:0004709","HP:0008085","HP:0008139"],"definition":"Increased side-to-side width of the first metatarsal bone.","id":"HP:0010068","name":"Broad first metatarsal","obsolete":false,"parents":["HP:0001783","HP:0010054"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad 1st metatarsal"},{"scope":"EXACT","text":"Enlarged first metatarsal"},{"scope":"EXACT","text":"Wide 1st long bone of foot"}]} +{"alt_ids":[],"definition":"An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction.","id":"HP:0010069","name":"Bullet-shaped 1st metatarsal","obsolete":false,"parents":["HP:0010054"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped 1st long bone of foot"}]} +{"alt_ids":[],"definition":"A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone.","id":"HP:0010070","name":"Curved 1st metatarsal","obsolete":false,"parents":["HP:0010054"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved 1st long bone of foot"}]} +{"alt_ids":[],"definition":"Dissolution or degeneration of bone tissue of the first metatarsal.","id":"HP:0010071","name":"Osteolytic defects of the 1st metatarsal","obsolete":false,"parents":["HP:0001473","HP:0010054","HP:0010062"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0010072","name":"Patchy sclerosis of the 1st metatarsal","obsolete":false,"parents":["HP:0010054","HP:0010063","HP:0010208","HP:0100945"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uneven increase in bone density of the 1st long bone of foot"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010073","name":"Synostosis involving the 1st metatarsal","obsolete":false,"parents":["HP:0010054"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fusion involving the 1st long bone of foot"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010074","name":"Triangular shaped 1st metatarsal","obsolete":false,"parents":["HP:0010054","HP:0010065"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped 1st long bone of foot"}]} +{"alt_ids":[],"definition":"A developmental defect consisting in the duplication of the first metatarsal bone.","id":"HP:0010075","name":"Duplication of the 1st metatarsal","obsolete":false,"parents":["HP:0001449","HP:0010054"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplicated 1st long bone of foot"},{"scope":"EXACT","text":"Duplicated first metatarsals"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010076","name":"Aplasia/Hypoplasia of the distal phalanx of the hallux","obsolete":false,"parents":["HP:0010053","HP:0010058","HP:0010185"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small outermost big toe bone"},{"scope":"EXACT","text":"Absent/underdeveloped outermost big toe bone"}]} +{"alt_ids":[],"definition":"An increase in width of the distal phalanx of the big toe.","id":"HP:0010077","name":"Broad distal phalanx of the hallux","obsolete":false,"parents":["HP:0010053","HP:0010059","HP:0010186"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad outermost bone of big toe"},{"scope":"EXACT","text":"Wide outermost bone of big toe"}]} +{"alt_ids":[],"definition":"An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.","id":"HP:0010078","name":"Bullet-shaped distal phalanx of the hallux","obsolete":false,"parents":["HP:0010053","HP:0010060","HP:0010187"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped outermost bone of big toe"}]} +{"alt_ids":[],"definition":"A deviation from the normal straight form of the distal phalanx of the big toe.","id":"HP:0010079","name":"Curved distal phalanx of the hallux","obsolete":false,"parents":["HP:0010053","HP:0010061","HP:0010188"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved outermost bone of big toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010080","name":"Osteolytic defects of the distal phalanx of the hallux","obsolete":false,"parents":["HP:0010053","HP:0010062","HP:0010189"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0010081","name":"Patchy sclerosis of the distal phalanx of the hallux","obsolete":false,"parents":["HP:0010063","HP:0010190","HP:0100944"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uneven increase in bone density in the outermost bone of big toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010082","name":"obsolete Symphalangism affecting the distal phalanx of the hallux","obsolete":true,"parents":[],"replaced_by":["HP:0010091"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0010083","name":"Triangular shaped distal phalanx of the hallux","obsolete":false,"parents":["HP:0010053","HP:0010065","HP:0010192"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped outermost bone of the big toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010084","name":"Duplication of the distal phalanx of the hallux","obsolete":false,"parents":["HP:0010053","HP:0010066","HP:0010193"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplication of the outermost bone of big toe"},{"scope":"EXACT","text":"Partial/complete duplication of the distal phalanx of the hallux"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010085","name":"Aplasia/Hypoplasia of the proximal phalanx of the hallux","obsolete":false,"parents":["HP:0010052","HP:0010058","HP:0010194"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small innermost big toe bone"},{"scope":"EXACT","text":"Absent/underdeveloped innermost big toe bone"}]} +{"alt_ids":[],"definition":"Increased width of proximal phalanx of big toe.","id":"HP:0010086","name":"Broad proximal phalanx of the hallux","obsolete":false,"parents":["HP:0010052","HP:0010059","HP:0010204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad innermost bone of the big toe"},{"scope":"EXACT","text":"Broad proximal phalanx of the big toe"}]} +{"alt_ids":[],"definition":"An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.","id":"HP:0010087","name":"Bullet-shaped proximal phalanx of the hallux","obsolete":false,"parents":["HP:0010052","HP:0010060","HP:0010205"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped innermost bone of the big toe"}]} +{"alt_ids":[],"definition":"A deviation from the normal straight form of the proximal phalanx of the big toe.","id":"HP:0010088","name":"Curved proximal phalanx of the hallux","obsolete":false,"parents":["HP:0010052","HP:0010061","HP:0010206"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved innermost bone of the big toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010089","name":"Osteolytic defects of the proximal phalanx of the hallux","obsolete":false,"parents":["HP:0010052","HP:0010062","HP:0010198"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0010090","name":"Patchy sclerosis of the proximal phalanx of the 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duplication of the distal phalanx of the hallux","obsolete":false,"parents":["HP:0010084","HP:0010100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of the outermost bone of the big toe"}]} +{"alt_ids":["HP:0008091"],"definition":null,"id":"HP:0010097","name":"Partial duplication of the distal phalanx of the hallux","obsolete":false,"parents":["HP:0010084","HP:0010101"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bifid distal phalanx of hallux"},{"scope":"EXACT","text":"Notched outermost bone of big toe"},{"scope":"EXACT","text":"Partial duplication of the outermost bone of big toe"}]} +{"alt_ids":["HP:0008121"],"definition":"A developmental defect consisting in the complete duplication of the first metatarsal bone.","id":"HP:0010098","name":"Complete duplication of the 1st metatarsal","obsolete":false,"parents":["HP:0010075"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of the 1st long bone of foot"}]} +{"alt_ids":[],"definition":"A developmental defect consisting in the duplication of part of the first metatarsal bone.","id":"HP:0010099","name":"Partial duplication of the 1st metatarsal","obsolete":false,"parents":["HP:0010075","HP:0010101"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial duplication of the 1st long bone of foot"}]} +{"alt_ids":[],"definition":"Complete duplication of one or more phalanx of big toe.","id":"HP:0010100","name":"Complete duplication of hallux phalanx","obsolete":false,"parents":["HP:0010066"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of big toe bones"},{"scope":"EXACT","text":"Complete duplication of the phalanges of the hallux"}]} +{"alt_ids":["HP:0004678"],"definition":null,"id":"HP:0010101","name":"Partial duplication of the phalanges of the hallux","obsolete":false,"parents":["HP:0010066"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial duplication of big toe"},{"scope":"EXACT","text":"partial duplication of hallux"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010102","name":"Aplasia of the distal phalanx of the hallux","obsolete":false,"parents":["HP:0010076","HP:0010110","HP:0010645"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent outermost bone of big toe"}]} +{"alt_ids":[],"definition":"Underdevelopment (hypoplasia) of the distal phalanx of big toe.","id":"HP:0010103","name":"Short distal phalanx of hallux","obsolete":false,"parents":["HP:0010076","HP:0010111"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic/small distal phalanx of the hallux"},{"scope":"EXACT","text":"Small distal phalanx of big toe"},{"scope":"EXACT","text":"Small distal phalanx of hallux"},{"scope":"EXACT","text":"Small outermost bone of big toe"}]} +{"alt_ids":["HP:0006124"],"definition":"A developmental defect characterized by the absence of the first metatarsal bone.","id":"HP:0010104","name":"Absent first 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phalanx of big toe.","id":"HP:0010107","name":"Short proximal phalanx of hallux","obsolete":false,"parents":["HP:0010085","HP:0010111"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic proximal phalanx of the hallux"},{"scope":"EXACT","text":"Short innermost big toe bone"},{"scope":"EXACT","text":"Short proximal phalanges of halluces"},{"scope":"EXACT","text":"Short proximal phalanx of halluces"},{"scope":"EXACT","text":"Small proximal phalanx of big toe"},{"scope":"EXACT","text":"Small proximal phalanx of hallux"}]} +{"alt_ids":["HP:0001843","HP:0001861","HP:0005610","HP:0008105"],"definition":"Underdevelopment (hypoplasia) of the big toe.","id":"HP:0010109","name":"Short hallux","obsolete":false,"parents":["HP:0001831","HP:0008362"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic big toes"},{"scope":"EXACT","text":"Hypoplastic hallux"},{"scope":"EXACT","text":"Short big toe"},{"scope":"EXACT","text":"Short halluces"},{"scope":"EXACT","text":"Small hallux"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010110","name":"Aplasia of the phalanges of the hallux","obsolete":false,"parents":["HP:0010058","HP:0010745"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent bone of big toe"}]} +{"alt_ids":[],"definition":"Underdevelopment (hypoplasia) of a phalanx of big toe.","id":"HP:0010111","name":"Short phalanx of hallux","obsolete":false,"parents":["HP:0010058","HP:0010109","HP:0010746"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic phalanges of the hallux"},{"scope":"EXACT","text":"Short bone of big toe"}]} +{"alt_ids":[],"definition":"The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly.","id":"HP:0010112","name":"Mesoaxial foot polydactyly","obsolete":false,"parents":["HP:0001829","HP:0100260"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Central polydactyly of feet"}]} +{"alt_ids":[],"definition":"Failure to form (agenesis) of one or more epiphyses of the big toe.","id":"HP:0010113","name":"Absent hallux epiphysis","obsolete":false,"parents":["HP:0010056","HP:0010162"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of big toe bone"},{"scope":"EXACT","text":"Absent epiphyses of the hallux"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010114","name":"Bracket epiphyses of the hallux","obsolete":false,"parents":["HP:0010056","HP:0010163"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of big toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010115","name":"Cone-shaped epiphyses of the hallux","obsolete":false,"parents":["HP:0010056","HP:0010164"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of the big toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010116","name":"Enlarged epiphyses of the hallux","obsolete":false,"parents":["HP:0010056","HP:0010165"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of the big toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010117","name":"Fragmentation of the epiphyses of the hallux","obsolete":false,"parents":["HP:0010056","HP:0010166"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of the end part of the big toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010118","name":"Irregular epiphyses of the hallux","obsolete":false,"parents":["HP:0010056","HP:0010167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of big toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010119","name":"Ivory epiphyses of the hallux","obsolete":false,"parents":["HP:0010056","HP:0010168"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the big toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010120","name":"Pseudoepiphyses of the hallux","obsolete":false,"parents":["HP:0010056","HP:0010169"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0010121","name":"Small epiphyses of the hallux","obsolete":false,"parents":["HP:0010056","HP:0010170"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of the big toe bone"}]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux.","id":"HP:0010122","name":"Stippling of the epiphyses of the hallux","obsolete":false,"parents":["HP:0010056","HP:0010171"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in the end part of the big toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010123","name":"Triangular epiphyses of the 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This term applies to abnormalities of the epiphysis of the first metatarsal bone.","id":"HP:0010125","name":"Abnormality of the epiphysis of the 1st metatarsal","obsolete":false,"parents":["HP:0010056"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the 1st long bone of foot"}]} +{"alt_ids":[],"definition":"In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux.","id":"HP:0010126","name":"Abnormality of the epiphysis of the proximal phalanx of the hallux","obsolete":false,"parents":["HP:0010056"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the innermost bone of the big toe"}]} +{"alt_ids":[],"definition":"Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux.","id":"HP:0010127","name":"Absent epiphysis of the proximal phalanx of the hallux","obsolete":false,"parents":["HP:0010113","HP:0010126"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of the innermost bone of the big toe"}]} +{"alt_ids":[],"definition":"The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.","id":"HP:0010128","name":"Bracket epiphysis of the proximal phalanx of the 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the hallux","obsolete":false,"parents":["HP:0010123","HP:0010126"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular end part of the innermost bone of the big toe"}]} +{"alt_ids":[],"definition":"Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux.","id":"HP:0010138","name":"Absent epiphysis of the distal phalanx of the hallux","obsolete":false,"parents":["HP:0010113","HP:0010124"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of the outermost bone of the big toe"}]} +{"alt_ids":[],"definition":"The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.","id":"HP:0010139","name":"Bracket epiphysis of the distal phalanx of the hallux","obsolete":false,"parents":["HP:0010114","HP:0010124"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of the outermost bone of big toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010140","name":"Cone-shaped epiphysis of the distal phalanx of the hallux","obsolete":false,"parents":["HP:0010115","HP:0010124"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of the outermost bone of the big toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010141","name":"Enlarged epiphysis of the distal phalanx of the hallux","obsolete":false,"parents":["HP:0010116","HP:0010124"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of the outermost bone of the big toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010142","name":"Fragmentation of the epiphysis of the distal phalanx of the hallux","obsolete":false,"parents":["HP:0010117","HP:0010124"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of the end part of the outermost bone of the big toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010143","name":"Irregular epiphysis of the distal phalanx of the 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abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux.","id":"HP:0010147","name":"Stippling of the epiphysis of the distal phalanx of the hallux","obsolete":false,"parents":["HP:0010122","HP:0010124"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in the end part of the outermost bone of the big toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010148","name":"Triangular epiphysis of the distal phalanx of the hallux","obsolete":false,"parents":["HP:0010123","HP:0010124"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular end part of the outermost bone of the big toe"}]} +{"alt_ids":[],"definition":"Failure to form (agenesis) of the epiphysis of the 1st metatarsal.","id":"HP:0010149","name":"Absent epiphysis of the 1st metatarsal","obsolete":false,"parents":["HP:0010125"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of the 1st long bone of foot"}]} +{"alt_ids":[],"definition":"The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form.","id":"HP:0010150","name":"Bracket epiphysis of the 1st metatarsal","obsolete":false,"parents":["HP:0010125"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of 1st long bone of foot"}]} +{"alt_ids":[],"definition":"A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot.","id":"HP:0010151","name":"Cone-shaped epiphysis of the 1st metatarsal","obsolete":false,"parents":["HP:0010054","HP:0010125","HP:0010630"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of the 1st long bone of foot"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010152","name":"Enlarged epiphysis of the 1st metatarsal","obsolete":false,"parents":["HP:0010116","HP:0010125"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of the 1st long bone of foot"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010153","name":"Fragmentation of the epiphysis of the 1st metatarsal","obsolete":false,"parents":["HP:0010117","HP:0010125"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of the end part of the 1st long bone of foot"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010154","name":"Irregular epiphysis of the 1st metatarsal","obsolete":false,"parents":["HP:0010118","HP:0010125"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of the 1st long bone of foot"}]} +{"alt_ids":[],"definition":"The epiphysis of the 1st metatarsal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs.","id":"HP:0010155","name":"Ivory epiphysis of the 1st metatarsal","obsolete":false,"parents":["HP:0010119","HP:0010125"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the 1st long bone of foot"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010156","name":"Pseudoepiphysis of the 1st metatarsal","obsolete":false,"parents":["HP:0010125"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0010157","name":"Small epiphysis of the 1st metatarsal","obsolete":false,"parents":["HP:0010125"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of the 1st long bone of foot"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010158","name":"Stippling of the epiphysis of the 1st metatarsal","obsolete":false,"parents":["HP:0010125"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in the end part of the 1st long bone of foot"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010159","name":"Triangular epiphysis of the 1st metatarsal","obsolete":false,"parents":["HP:0010125"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular end part of the 1st long bone of foot"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010160","name":"Abnormal toe epiphysis morphology","obsolete":false,"parents":["HP:0001780","HP:0010631"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the toe bones"},{"scope":"EXACT","text":"Abnormality of the epiphyses of the toes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010161","name":"Abnormal toe phalanx morphology","obsolete":false,"parents":["HP:0001780"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the long bones of the toes"},{"scope":"EXACT","text":"Abnormality of the phalanges of the toes"}]} +{"alt_ids":[],"definition":"Absence of the epiphyses of the phalanges of the toes.","id":"HP:0010162","name":"Absent epiphyses of the toes","obsolete":false,"parents":["HP:0010160","HP:0010577"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of the toe bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010163","name":"Bracket epiphyses of the toes","obsolete":false,"parents":["HP:0010160","HP:0010578"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of the toe bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010164","name":"Cone-shaped epiphyses of the toes","obsolete":false,"parents":["HP:0010160","HP:0034281"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of the toe bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010165","name":"Enlarged epiphyses of the toes","obsolete":false,"parents":["HP:0010160","HP:0010580"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of the toe bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010166","name":"Fragmentation of the epiphyses of the toes","obsolete":false,"parents":["HP:0010160","HP:0100168"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of the end part of the toe bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010167","name":"Irregular epiphyses of the toes","obsolete":false,"parents":["HP:0010160","HP:0010582"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of the toe bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010168","name":"Ivory epiphyses of the toes","obsolete":false,"parents":["HP:0010160","HP:0010583"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the toes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010169","name":"Pseudoepiphyses of the toes","obsolete":false,"parents":["HP:0010160","HP:0010584"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0010170","name":"Small epiphyses of the toes","obsolete":false,"parents":["HP:0010160","HP:0010585"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of the toe bones"}]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes.","id":"HP:0010171","name":"Epiphyseal stippling of toe phalanges","obsolete":false,"parents":["HP:0010160","HP:0010655"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in long toe bones"},{"scope":"EXACT","text":"Stippling of the epiphyses of the toes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010172","name":"Triangular epiphyses of the toes","obsolete":false,"parents":["HP:0010160","HP:0010587"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular end part of the toe bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010173","name":"Aplasia/Hypoplasia of the phalanges of the toes","obsolete":false,"parents":["HP:0006494","HP:0010161"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small toe bones"},{"scope":"EXACT","text":"Absent/underdeveloped toe bones"}]} +{"alt_ids":[],"definition":"Increased width of phalanx of one or more toes.","id":"HP:0010174","name":"Broad phalanx of the toes","obsolete":false,"parents":["HP:0006009","HP:0010161","HP:0040069"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide toe bones"}]} +{"alt_ids":[],"definition":"An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.","id":"HP:0010175","name":"Bullet-shaped toe phalanx","obsolete":false,"parents":["HP:0010161"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped phalanges of the toes"},{"scope":"EXACT","text":"Bullet-shaped toe bone"}]} +{"alt_ids":[],"definition":"A deviation from the normal straight form of one or more toe phalanges.","id":"HP:0010176","name":"Curved toe phalanx","obsolete":false,"parents":["HP:0010161"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved phalanges of the toes"},{"scope":"EXACT","text":"Curved toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010177","name":"Osteolytic defects of the phalanges of the toes","obsolete":false,"parents":["HP:0009134","HP:0010161"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Uneven (irregular) increase in bone density of one or more of the phalanges of the foot.","id":"HP:0010178","name":"Patchy sclerosis of toe phalanx","obsolete":false,"parents":["HP:0005686","HP:0100924"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Patchy sclerosis of the phalanges of the toes"},{"scope":"EXACT","text":"Uneven increase in bone density in toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010179","name":"Toe symphalangism","obsolete":false,"parents":["HP:0010161","HP:0100235"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused toe bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010180","name":"Triangular shaped phalanges of the toes","obsolete":false,"parents":["HP:0010161"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped toe bones"}]} +{"alt_ids":[],"definition":"Partial/complete duplication of one or more phalanx of toe.","id":"HP:0010181","name":"Duplication of phalanx of toe","obsolete":false,"parents":["HP:0010161"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplicated toe bone"},{"scope":"EXACT","text":"Partial/complete duplication of the phalanges of the toes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010182","name":"Abnormal distal toe phalanx morphology","obsolete":false,"parents":["HP:0010161"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the outermost bone of the toes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010183","name":"Abnormality of the middle phalanges of the toes","obsolete":false,"parents":["HP:0010161"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal middle bones of toe"}]} +{"alt_ids":[],"definition":"A morphological anomaly of one or more proximal phalanges of one or more toes.","id":"HP:0010184","name":"Abnormality of toe proximal phalanx","obsolete":false,"parents":["HP:0010161"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal innermost toe bone"},{"scope":"EXACT","text":"Abnormality of the proximal phalanges of the toes"}]} +{"alt_ids":["HP:0005735","HP:0005818"],"definition":"Absence or underdevelopment of the distal phalanges of the toes.","id":"HP:0010185","name":"Aplasia/Hypoplasia of the distal phalanges of the toes","obsolete":false,"parents":["HP:0010173","HP:0010182","HP:0010760"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/hypoplastic terminal phalanges of toes"},{"scope":"EXACT","text":"Absent/small outermost bones of toe"},{"scope":"EXACT","text":"Absent/underdeveloped outermost bones of toe"},{"scope":"RELATED","text":"Hypoplasia/agenesis of distal phalanges of toes"}]} +{"alt_ids":[],"definition":"Increased width of the distal phalanx of toe of one or more toes.","id":"HP:0010186","name":"Broad distal phalanx of the toes","obsolete":false,"parents":["HP:0010174","HP:0010182"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad outermost bone of the toe"},{"scope":"EXACT","text":"Wide outermost bone of the toe"}]} +{"alt_ids":[],"definition":"An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.","id":"HP:0010187","name":"Bullet-shaped distal toe phalanx","obsolete":false,"parents":["HP:0010175","HP:0010182"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped distal phalanges of the toes"},{"scope":"EXACT","text":"Bullet-shaped outermost bone of the toe"}]} +{"alt_ids":[],"definition":"A deviation from the normal straight form of one or more distal toe phalanges.","id":"HP:0010188","name":"Curved distal toe phalanx","obsolete":false,"parents":["HP:0010176","HP:0010182"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved distal phalanges of the toes"},{"scope":"EXACT","text":"Curved outermost bone of the toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010189","name":"Osteolytic defects of the distal phalanges of the toes","obsolete":false,"parents":["HP:0010177","HP:0010182"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.","id":"HP:0010190","name":"Patchy sclerosis of distal toe phalanx","obsolete":false,"parents":["HP:0010178","HP:0100948"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Patchy sclerosis of the distal phalanges of the toes"},{"scope":"EXACT","text":"Uneven increase in bone density in outermost toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010191","name":"obsolete Symphalangism affecting the distal phalanges of the toes","obsolete":true,"parents":[],"replaced_by":["HP:0001859"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0010192","name":"Triangular shaped distal phalanges of the toes","obsolete":false,"parents":["HP:0010180","HP:0010182"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped outermost bone of the toes"}]} +{"alt_ids":[],"definition":"A partial or complete duplication of one or more distal phalanx of toe.","id":"HP:0010193","name":"Duplication of distal phalanx of toe","obsolete":false,"parents":["HP:0010182"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplication of outermost bone of toe"},{"scope":"EXACT","text":"Partial/complete duplication of the distal phalanges of the toes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010194","name":"Aplasia/Hypoplasia of the middle phalanges of the toes","obsolete":false,"parents":["HP:0010173","HP:0010183"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small middle bones of toe"},{"scope":"EXACT","text":"Absent/underdeveloped middle bones of toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010195","name":"Broad middle phalanges of the toes","obsolete":false,"parents":["HP:0010174","HP:0010183"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad middle bones of the toes"}]} +{"alt_ids":[],"definition":"An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.","id":"HP:0010196","name":"Bullet-shaped middle phalanx of toe","obsolete":false,"parents":["HP:0010175","HP:0010183"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped middle bones of the toes"},{"scope":"EXACT","text":"Bullet-shaped middle phalanges of the toes"}]} +{"alt_ids":[],"definition":"A deviation from the normal straight form of one or more middle toe phalanges.","id":"HP:0010197","name":"Curved middle phalanx of toe","obsolete":false,"parents":["HP:0010176","HP:0010183"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved middle bones of the toes"},{"scope":"EXACT","text":"Curved middle phalanges of the toes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010198","name":"Osteolytic defects of the middle phalanges of the toes","obsolete":false,"parents":["HP:0010177","HP:0010183"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.","id":"HP:0010199","name":"Patchy sclerosis of middle phalanx of toe","obsolete":false,"parents":["HP:0010178","HP:0100947"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Patchy sclerosis of the middle phalanges of the toes"},{"scope":"EXACT","text":"Uneven increase in bone density in middle toe bone"}]} +{"alt_ids":["HP:0010209","HP:0100237"],"definition":"Bony fusion at the proximal interphalangeal joint of a toe other than the hallux (end-to-end fusion of the proximal and medial phalanx of a toe).","id":"HP:0010200","name":"Proximal toe symphalangism","obsolete":false,"parents":["HP:0010179","HP:0100264"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused middle bones of toes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010201","name":"Triangular shaped middle phalanges of the toes","obsolete":false,"parents":["HP:0010180","HP:0010183"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped middle bones of toes"}]} +{"alt_ids":[],"definition":"Partial or complete duplication of a middle phalanx of toe.","id":"HP:0010202","name":"Duplication of middle phalanx of toe","obsolete":false,"parents":["HP:0010183"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial/complete duplication of the middle bones of the toes"},{"scope":"EXACT","text":"Partial/complete duplication of the middle phalanges of the toes"}]} +{"alt_ids":[],"definition":"Absence (agenesis) or underdevelopment of the proximal phalanx of the toe.","id":"HP:0010203","name":"Aplasia/hypoplasia of proximal toe phalanx","obsolete":false,"parents":["HP:0010173","HP:0010184"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small innermost toe bones"},{"scope":"EXACT","text":"Absent/underdeveloped innermost toe bones"},{"scope":"EXACT","text":"Aplasia/Hypoplasia of the proximal phalanges of the toes"}]} +{"alt_ids":[],"definition":"An increase in width of one ore more proximal toe phalanges.","id":"HP:0010204","name":"Broad proximal phalanx of toe","obsolete":false,"parents":["HP:0010174","HP:0010184"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad innermost toe bone"}]} +{"alt_ids":[],"definition":"An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.","id":"HP:0010205","name":"Bullet-shaped proximal toe phalanx","obsolete":false,"parents":["HP:0010175","HP:0010184"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullet-shaped innermost toe bone"},{"scope":"EXACT","text":"Bullet-shaped proximal phalanges of the toes"},{"scope":"EXACT","text":"Bullet-shaped proximal phalanges of toe"}]} +{"alt_ids":[],"definition":"A deviation from the normal straight shape of a proximal phalanx of one or more toes.","id":"HP:0010206","name":"Curved proximal toe phalanx","obsolete":false,"parents":["HP:0010176","HP:0010184"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Curved innermost toe bones"},{"scope":"EXACT","text":"Curved proximal phalanges of the toes"}]} +{"alt_ids":[],"definition":"Dissolution or degeneration of bone tissue of the proximal toe phalanx.","id":"HP:0010207","name":"Osteolytic defect of the proximal toe phalanx","obsolete":false,"parents":["HP:0010177","HP:0010184"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Osteolytic defects of the proximal phalanges of the toes"}]} +{"alt_ids":[],"definition":"Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.","id":"HP:0010208","name":"Patchy sclerosis of proximal toe phalanx","obsolete":false,"parents":["HP:0010178","HP:0100946"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Patchy sclerosis of the proximal phalanges of the toes"},{"scope":"EXACT","text":"Uneven increase in bone density in innermost toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010209","name":"obsolete Symphalangism affecting the proximal phalanges of the toes","obsolete":true,"parents":[],"replaced_by":["HP:0010200"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0010210","name":"Triangular shaped proximal phalanges of the toes","obsolete":false,"parents":["HP:0010180","HP:0010184"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped innermost toe bones"}]} +{"alt_ids":[],"definition":"Partial/complete duplication of a proximal phalanx of toe.","id":"HP:0010211","name":"Duplication of proximal phalanx of toe","obsolete":false,"parents":["HP:0010184"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplication of innermost toe bones"},{"scope":"EXACT","text":"Partial/complete duplication of the proximal phalanges of the toes"}]} +{"alt_ids":[],"definition":"One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively.","id":"HP:0010212","name":"Flexion contracture of the hallux","obsolete":false,"parents":["HP:0001844","HP:0005830"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Joint contracture of the big toe"},{"scope":"EXACT","text":"Joint contracture of the hallux"}]} +{"alt_ids":[],"definition":"Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints.","id":"HP:0010213","name":"Contracture of the tarsometatarsal joint of the hallux","obsolete":false,"parents":["HP:0010212"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The interphalangeal joint of the big toe cannot be straightened actively or passively.","id":"HP:0010214","name":"Contracture of the interphalangeal joint of the hallux","obsolete":false,"parents":["HP:0010212"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively.","id":"HP:0010215","name":"Contractures of the metatarsophalangeal joint of the hallux","obsolete":false,"parents":["HP:0010212"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies.","id":"HP:0010219","name":"Structural foot deformity","obsolete":false,"parents":["HP:0001760"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality of the epiphysis of the second metacarpal bone.","id":"HP:0010220","name":"Abnormality of the epiphysis of the 2nd metacarpal","obsolete":false,"parents":["HP:0010010"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the 2nd long bone of hand"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010221","name":"obsolete Pseudoepiphysis of the 2nd metacarpal","obsolete":true,"parents":[],"replaced_by":["HP:0006179"],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality of the epiphysis of the third metacarpal bone.","id":"HP:0010222","name":"Abnormal 3rd metacarpal epiphysis morphology","obsolete":false,"parents":["HP:0010011"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the 3rd long bone of hand"},{"scope":"EXACT","text":"Abnormality of the epiphysis of the 3rd metacarpal"}]} +{"alt_ids":[],"definition":"The normal epiphysis of the third metacarpal is localized at the distal end of the metacarpal bone. This term applies if an accessory epiphysis, located at the proximal end of the metacarpal bone, is present.","id":"HP:0010223","name":"Pseudoepiphysis of the 3rd metacarpal","obsolete":false,"parents":["HP:0009193","HP:0010222"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality of the epiphysis of the 4th metacarpal bone.","id":"HP:0010224","name":"Abnormal 4th metacarpal epiphysis morphology","obsolete":false,"parents":["HP:0010012"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the 4th long bone of hand"},{"scope":"EXACT","text":"Abnormality of the epiphysis of the 4th metacarpal"}]} +{"alt_ids":[],"definition":"The normal epiphysis of the fourth metacarpal is localized at the distal end of the metacarpal bone. This term applies if an accessory epiphysis, located at the proximal end of the metacarpal bone, is present.","id":"HP:0010225","name":"Pseudoepiphysis of the 4th metacarpal","obsolete":false,"parents":["HP:0009193","HP:0010224"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality of the epiphysis of the fifth metacarpal bone.","id":"HP:0010226","name":"Abnormal 5th metacarpal epiphysis morphology","obsolete":false,"parents":["HP:0010013"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the long bone of little finger"},{"scope":"EXACT","text":"Abnormality of the end part of the long bone of pinkie finger"},{"scope":"EXACT","text":"Abnormality of the end part of the long bone of pinky finger"},{"scope":"EXACT","text":"Abnormality of the epiphysis of the 5th metacarpal"}]} +{"alt_ids":[],"definition":"The normal epiphysis of the fifth metacarpal is localized at the distal end of the metacarpal bone. This term applies if an accessory epiphysis, located at the proximal end of the metacarpal bone, is present.","id":"HP:0010227","name":"Pseudoepiphysis of the 5th metacarpal","obsolete":false,"parents":["HP:0009193","HP:0010226"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0009359"],"definition":"Absence of one or more epiphyses of the phalanges of the fingers.","id":"HP:0010228","name":"Absent epiphyses of the phalanges of the hand","obsolete":false,"parents":["HP:0005920","HP:0010577"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of fingers"},{"scope":"EXACT","text":"Absent epiphyses of the fingers"}]} +{"alt_ids":["HP:0009360"],"definition":"Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.","id":"HP:0010229","name":"Bracket epiphyses of the phalanges of the hand","obsolete":false,"parents":["HP:0005920","HP:0010578"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket epiphyses of the fingers"},{"scope":"EXACT","text":"Bracket shaped end part of finger bones"}]} +{"alt_ids":["HP:0001175","HP:0001207","HP:0001242","HP:0003766","HP:0005803","HP:0009361"],"definition":"A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.","id":"HP:0010230","name":"Cone-shaped epiphyses of the phalanges of the hand","obsolete":false,"parents":["HP:0005920","HP:0034281"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of finger bones"},{"scope":"EXACT","text":"Cone-shaped epiphyses of hand"},{"scope":"EXACT","text":"Cone-shaped epiphyses of the fingers"},{"scope":"EXACT","text":"Coned epiphyses of hands"},{"scope":"EXACT","text":"Conical phalangeal epiphyses"}]} +{"alt_ids":["HP:0006023","HP:0009362"],"definition":"Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.","id":"HP:0010231","name":"Enlarged epiphyses of the phalanges of the hand","obsolete":false,"parents":["HP:0005920","HP:0010580"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of finger bones"},{"scope":"EXACT","text":"Enlarged epiphyses of the fingers"},{"scope":"EXACT","text":"Enlarged phalangeal epiphyses"}]} +{"alt_ids":["HP:0009363"],"definition":"Fragmented appearance of the epiphyses of the phalanges of the fingers.","id":"HP:0010232","name":"Fragmented finger phalanx epiphysis","obsolete":false,"parents":["HP:0003841","HP:0005920"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of end part of finger bones"},{"scope":"EXACT","text":"Fragmentation of the epiphyses of the fingers"},{"scope":"EXACT","text":"Fragmentation of the epiphyses of the phalanges of the hand"}]} +{"alt_ids":["HP:0009364"],"definition":"Irregular radiographic opacity of the epiphyses of the phalanges of the fingers.","id":"HP:0010233","name":"Irregular epiphyses of the phalanges of the hand","obsolete":false,"parents":["HP:0003842","HP:0005920"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of finger bones"},{"scope":"EXACT","text":"Irregular epiphyses of the fingers"}]} +{"alt_ids":["HP:0001210","HP:0009365"],"definition":"Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.","id":"HP:0010234","name":"Ivory epiphyses of the phalanges of the hand","obsolete":false,"parents":["HP:0005920","HP:0010583","HP:0100899"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the hand bones"},{"scope":"EXACT","text":"Ivory epiphyses of the fingers"},{"scope":"EXACT","text":"Sclerotic ivory phalangeal epiphyses"}]} +{"alt_ids":["HP:0009366"],"definition":"A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.","id":"HP:0010235","name":"Pseudoepiphyses of the phalanges of the hand","obsolete":false,"parents":["HP:0004288","HP:0005920"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pseudoepiphysis of the fingers"}]} +{"alt_ids":["HP:0009367"],"definition":"Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.","id":"HP:0010236","name":"Small epiphyses of the phalanges of the hand","obsolete":false,"parents":["HP:0005920","HP:0010585"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of finger bones"},{"scope":"EXACT","text":"Small epiphyses of the fingers"}]} +{"alt_ids":["HP:0009368"],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers.","id":"HP:0010237","name":"Epiphyseal stippling of finger phalanges","obsolete":false,"parents":["HP:0005920","HP:0010655","HP:0010660"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in end part of finger bones"},{"scope":"EXACT","text":"Stippling of the epiphyses of the fingers"},{"scope":"EXACT","text":"Stippling of the epiphyses of the phalanges of the hand"}]} +{"alt_ids":["HP:0009369"],"definition":"A triangular appearance of the epiphyses of the phalanges of the fingers of the hand.","id":"HP:0010238","name":"Triangular epiphyses of the phalanges of the hand","obsolete":false,"parents":["HP:0005920","HP:0010587"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delta-shaped epiphyses of the fingers"},{"scope":"EXACT","text":"Triangular end part of finger bones"},{"scope":"EXACT","text":"Triangular epiphyses of the fingers"}]} +{"alt_ids":["HP:0005778"],"definition":"Absence of one or more middle phalanx of a finger.","id":"HP:0010239","name":"Aplasia of the middle phalanx of the hand","obsolete":false,"parents":["HP:0009380","HP:0009802","HP:0009843"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent middle bones of hand"},{"scope":"EXACT","text":"Absent middle phalanges"},{"scope":"EXACT","text":"Missing middle phalanges"}]} +{"alt_ids":["HP:0005670","HP:0006138"],"definition":"Congenital hypoplasia of one or more proximal phalanx of finger.","id":"HP:0010241","name":"Short proximal phalanx of finger","obsolete":false,"parents":["HP:0009381","HP:0009803","HP:0009851"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplasia of the proximal phalanges of the hand"},{"scope":"EXACT","text":"Short innermost finger bones"},{"scope":"EXACT","text":"Short proximal phalanges"},{"scope":"EXACT","text":"Short proximal phalanx of finger"},{"scope":"EXACT","text":"Shortening in proximal phalanges"}]} +{"alt_ids":["HP:0006102"],"definition":null,"id":"HP:0010242","name":"Aplasia of the proximal phalanges of the hand","obsolete":false,"parents":["HP:0009380","HP:0009802","HP:0009851"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent innermost bones"},{"scope":"EXACT","text":"Absent proximal phalanges"}]} +{"alt_ids":[],"definition":"Any anomaly of distal epiphysis of phalanx of finger.","id":"HP:0010243","name":"Abnormality of the epiphyses of the distal phalanx of finger","obsolete":false,"parents":["HP:0005920","HP:0009832"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the outermost bone of finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010244","name":"Abnormality of the epiphyses of the middle phalanges of the hand","obsolete":false,"parents":["HP:0005920","HP:0009833"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the middle hand bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010245","name":"Abnormality of the epiphyses of the proximal phalanges of the hand","obsolete":false,"parents":["HP:0005920","HP:0009834"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the innermost hand bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010246","name":"Absent epiphyses of the distal phalanges of the hand","obsolete":false,"parents":["HP:0010228","HP:0010243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of the outermost hand bones"}]} +{"alt_ids":[],"definition":"An abnormality of the distal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.","id":"HP:0010247","name":"Bracket epiphyses of the distal phalanges of the hand","obsolete":false,"parents":["HP:0010229","HP:0010243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of the outermost hand bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010248","name":"Cone-shaped epiphyses of the distal phalanges of the hand","obsolete":false,"parents":["HP:0010230","HP:0010243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of the outermost hand bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010249","name":"Enlarged epiphyses of the distal phalanges of the hand","obsolete":false,"parents":["HP:0010231","HP:0010243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of the outermost hand bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010250","name":"Fragmentation of the epiphyses of the distal phalanges of the hand","obsolete":false,"parents":["HP:0010232","HP:0010243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of the end part of the outermost hand bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010251","name":"Irregular epiphyses of the distal phalanges of the hand","obsolete":false,"parents":["HP:0010233","HP:0010243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of the outermost hand bones"}]} +{"alt_ids":["HP:0006105"],"definition":"Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.","id":"HP:0010252","name":"Ivory epiphyses of the distal phalanges of the hand","obsolete":false,"parents":["HP:0010234","HP:0010243","HP:0100915"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eburnated epiphyses of distal phalanges"},{"scope":"EXACT","text":"Increased bone density of end part of the outermost hand bones"}]} +{"alt_ids":[],"definition":"A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.","id":"HP:0010253","name":"Pseudoepiphyses of the distal phalanges of the hand","obsolete":false,"parents":["HP:0010235","HP:0010243"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0010254","name":"Small epiphyses of the distal phalanges of the hand","obsolete":false,"parents":["HP:0010236","HP:0010243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of the outermost hand bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010255","name":"Stippling of the epiphyses of the distal phalanges of the hand","obsolete":false,"parents":["HP:0010237","HP:0010243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in the end part of the outermost hand bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010256","name":"Triangular epiphyses of the distal phalanges of the hand","obsolete":false,"parents":["HP:0010238","HP:0010243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular end part of the outermost hand bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010257","name":"Absent epiphyses of the middle phalanges of the hand","obsolete":false,"parents":["HP:0010228","HP:0010244"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of the middle hand bones"}]} +{"alt_ids":[],"definition":"An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.","id":"HP:0010258","name":"Bracket epiphyses of the middle phalanges of the hand","obsolete":false,"parents":["HP:0010229","HP:0010244"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of the middle hand bones"}]} +{"alt_ids":["HP:0006033","HP:0006058"],"definition":null,"id":"HP:0010259","name":"Cone-shaped epiphyses of the middle phalanges of the hand","obsolete":false,"parents":["HP:0010230","HP:0010244"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of the middle hand bones"},{"scope":"EXACT","text":"Cone-shaped epiphyses of middle phalanges"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010260","name":"Enlarged epiphyses of the middle phalanges of the hand","obsolete":false,"parents":["HP:0010231","HP:0010244"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of the middle hand bones"}]} +{"alt_ids":[],"definition":"Fragmented appearance of the epiphyses of the middle phalanges of the hand.","id":"HP:0010261","name":"Fragmentation of the epiphyses of the middle phalanges of the hand","obsolete":false,"parents":["HP:0010232","HP:0010244"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of the end part of the middle hand bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010262","name":"Irregular epiphyses of the middle phalanges of the hand","obsolete":false,"parents":["HP:0010233","HP:0010244"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of middle hand bones"}]} +{"alt_ids":[],"definition":"Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.","id":"HP:0010263","name":"Ivory epiphyses of the middle phalanges of the hand","obsolete":false,"parents":["HP:0010234","HP:0010244","HP:0100916"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the middle hand bones"}]} +{"alt_ids":[],"definition":"A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.","id":"HP:0010264","name":"Pseudoepiphyses of the middle phalanges of the hand","obsolete":false,"parents":["HP:0010235","HP:0010244"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0010265","name":"Small epiphyses of the middle phalanges of the hand","obsolete":false,"parents":["HP:0010236","HP:0010244"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of the middle hand bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010266","name":"Stippling of the epiphyses of the middle phalanges of the hand","obsolete":false,"parents":["HP:0010237","HP:0010244"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in the end part of the middle hand bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010267","name":"Triangular epiphyses of the middle phalanges of the hand","obsolete":false,"parents":["HP:0010238","HP:0010244"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular end part of the middle hand bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010268","name":"Absent epiphyses of the proximal phalanges of the hand","obsolete":false,"parents":["HP:0010228","HP:0010245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of the innermost hand bones"}]} +{"alt_ids":[],"definition":"An abnormality of the proximal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.","id":"HP:0010269","name":"Bracket epiphyses of the proximal phalanges of the hand","obsolete":false,"parents":["HP:0010229","HP:0010245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of the innermost hand bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010270","name":"Cone-shaped epiphyses of the proximal phalanges of the hand","obsolete":false,"parents":["HP:0010230","HP:0010245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of the innermost hand bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010271","name":"Enlarged epiphyses of the proximal phalanges of the hand","obsolete":false,"parents":["HP:0010231","HP:0010245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of the innermost hand bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010272","name":"Fragmentation of the epiphyses of the proximal phalanges of the hand","obsolete":false,"parents":["HP:0010232","HP:0010245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of the end part of the innermost hand bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010273","name":"Irregular epiphyses of the proximal phalanges of the hand","obsolete":false,"parents":["HP:0010233","HP:0010245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of the innermost hand bones"}]} +{"alt_ids":[],"definition":"Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.","id":"HP:0010274","name":"Ivory epiphyses of the proximal phalanges of the hand","obsolete":false,"parents":["HP:0010234","HP:0010245","HP:0100917"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the innermost hand bones"}]} +{"alt_ids":[],"definition":"A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.","id":"HP:0010275","name":"Pseudoepiphyses of the proximal phalanges of the hand","obsolete":false,"parents":["HP:0010235","HP:0010245"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0010276","name":"Small epiphyses of the proximal phalanges of the hand","obsolete":false,"parents":["HP:0010236","HP:0010245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of the innermost hand bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010277","name":"Stippling of the epiphyses of the proximal phalanges of the hand","obsolete":false,"parents":["HP:0010237","HP:0010245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in the end part of the innermost hand bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010278","name":"Triangular epiphyses of the proximal phalanges of the hand","obsolete":false,"parents":["HP:0010238","HP:0010245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular end part of the innermost hand bones"}]} +{"alt_ids":[],"definition":"Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.","id":"HP:0010280","name":"Stomatitis","obsolete":false,"parents":["HP:0011830","HP:0012649"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Gingivostomatitis"},{"scope":"EXACT","text":"Inflammation of the mouth"}]} +{"alt_ids":[],"definition":"A gap in the lower lip.","id":"HP:0010281","name":"Cleft lower lip","obsolete":false,"parents":["HP:0000178","HP:0410030"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cleft lower lip"},{"scope":"EXACT","text":"Cleft of the lower lip"},{"scope":"EXACT","text":"Lower labial cleft"}]} +{"alt_ids":[],"definition":"Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective).","id":"HP:0010282","name":"Thin lower lip vermilion","obsolete":false,"parents":["HP:0000178","HP:0000233"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased height of lower lip vermilion"},{"scope":"EXACT","text":"Decreased volume of lower lip"},{"scope":"EXACT","text":"Decreased volume of lower lip vermilion"},{"scope":"EXACT","text":"Thin lower lip"},{"scope":"NARROW","text":"Thin red part of the lower lip"},{"scope":"EXACT","text":"Thin vermilion border of lower lip"}]} +{"alt_ids":[],"definition":"Increased pigmentation, either focal or generalized, of the mucosa of the mouth.","id":"HP:0010284","name":"Intra-oral hyperpigmentation","obsolete":false,"parents":["HP:0100669"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Dark color of gums"},{"scope":"NARROW","text":"Dark colour of gums"},{"scope":"NARROW","text":"Gingival hyperpigmentation"},{"scope":"NARROW","text":"Gingival melanin pigmentation"},{"scope":"EXACT","text":"Hyperpigmentation of oral mucosa"},{"scope":"EXACT","text":"Oral mucosa melanin pigmentation"},{"scope":"EXACT","text":"Oral racial pigmentation"},{"scope":"NARROW","text":"Pigmented gums"}]} +{"alt_ids":[],"definition":"Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges.","id":"HP:0010285","name":"Oral synechia","obsolete":false,"parents":["HP:0011830"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Oral fibrous bands"},{"scope":"EXACT","text":"Synechiae of the mouth"}]} +{"alt_ids":[],"definition":"Any abnormality of the salivary glands, the exocrine glands that produce saliva.","id":"HP:0010286","name":"Abnormal salivary gland morphology","obsolete":false,"parents":["HP:0000163"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the salivary glands"},{"scope":"RELATED","text":"Salivary gland disease"}]} +{"alt_ids":[],"definition":"Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles.","id":"HP:0010287","name":"Abnormality of the submandibular glands","obsolete":false,"parents":["HP:0010286"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the submaxillary glands"}]} +{"alt_ids":[],"definition":"Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands.","id":"HP:0010288","name":"Abnormality of the sublingual glands","obsolete":false,"parents":["HP:0010286"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0410003"],"definition":"A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine.","id":"HP:0010289","name":"Cleft maxillary alveolar ridge","obsolete":false,"parents":["HP:0000202"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Alveolar cleft"},{"scope":"EXACT","text":"Alveolar ridge cleft"},{"scope":"EXACT","text":"Cleft anterior maxilla"},{"scope":"EXACT","text":"Cleft maxillary alveolus"},{"scope":"NARROW","text":"Cleft of alveolar process"},{"scope":"EXACT","text":"Cleft of alveolar ridge of maxilla"},{"scope":"EXACT","text":"Cleft of gum ridge"},{"scope":"NARROW","text":"Notch of alveolar process"},{"scope":"EXACT","text":"Notch of alveolar ridge"},{"scope":"EXACT","text":"Notch of gum ridge"}]} +{"alt_ids":[],"definition":"Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective).","id":"HP:0010290","name":"Short hard palate","obsolete":false,"parents":["HP:0100737"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased length of hard palate"},{"scope":"RELATED","text":"Hypoplastic palate"},{"scope":"RELATED","text":"Short palate"}]} +{"alt_ids":[],"definition":"Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge.","id":"HP:0010291","name":"Prominent palatine ridges","obsolete":false,"parents":["HP:0000174"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Large lateral palatal folds"},{"scope":"EXACT","text":"Large lateral palatal ridges"},{"scope":"EXACT","text":"Prominent lateral palatal folds"},{"scope":"EXACT","text":"Prominent lateral palatal ridges"},{"scope":"EXACT","text":"Prominent palatine folds"}]} +{"alt_ids":[],"definition":"Lack of the uvula.","id":"HP:0010292","name":"Absent uvula","obsolete":false,"parents":["HP:0010293"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent palatine uvula"},{"scope":"RELATED","text":"Agenesis of uvula"},{"scope":"EXACT","text":"Congenital absence of uvula"},{"scope":"EXACT","text":"Missing uvula"},{"scope":"EXACT","text":"Uvula aplasia"}]} +{"alt_ids":[],"definition":"Underdevelopment or absence of the uvula.","id":"HP:0010293","name":"Aplasia/Hypoplasia of the uvula","obsolete":false,"parents":["HP:0000172"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aplasia/hypoplasia of palatine uvula"}]} +{"alt_ids":[],"definition":"A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate.","id":"HP:0010294","name":"Palate fistula","obsolete":false,"parents":["HP:0000174"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Hole in roof of mouth"},{"scope":"BROAD","text":"Palatal hole"},{"scope":"BROAD","text":"Palatal perforation"}]} +{"alt_ids":[],"definition":"Absence 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phalanx of the 2nd toe","obsolete":false,"parents":["HP:0010193","HP:0010355","HP:0010356"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplication of the outermost bone of the 2nd toe"},{"scope":"EXACT","text":"Partial/complete duplication of the distal phalanx of the 2nd toe"}]} +{"alt_ids":[],"definition":"Complete duplication of proximal phalanx of second toe.","id":"HP:0010422","name":"Complete duplication of the proximal phalanx of the 2nd toe","obsolete":false,"parents":["HP:0010403","HP:0010429"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of the innermost 2nd toe bone"},{"scope":"EXACT","text":"Complete duplication of the proximal phalanx of the second toe"}]} +{"alt_ids":[],"definition":"Partial duplication of proximal phalanx of second toe.","id":"HP:0010423","name":"Partial duplication of the proximal phalanx of the 2nd 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middle phalanx of second toe.","id":"HP:0010426","name":"Complete duplication of the middle phalanx of the 2nd toe","obsolete":false,"parents":["HP:0010412","HP:0010429"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of the middle bone of the 2nd toe"}]} +{"alt_ids":[],"definition":"Partial duplication of middle phalanx of second toe.","id":"HP:0010427","name":"Partial duplication of the middle phalanx of the 2nd toe","obsolete":false,"parents":["HP:0010412","HP:0010428"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial duplication of the middle bone of the 2nd toe"}]} +{"alt_ids":[],"definition":"Partial duplication of a phalanx of second toe.","id":"HP:0010428","name":"Partial duplication of phalanx of the 2nd toe","obsolete":false,"parents":["HP:0010355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial duplication of 2nd toe bone"}]} +{"alt_ids":[],"definition":"Complete duplication of a phalanx of second toe.","id":"HP:0010429","name":"Complete duplication of the phalanges of the 2nd toe","obsolete":false,"parents":["HP:0010355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete duplication of the 2nd toe bones"}]} +{"alt_ids":["HP:0100361"],"definition":null,"id":"HP:0010430","name":"Aplasia of the phalanges of the 2nd toe","obsolete":false,"parents":["HP:0010325","HP:0010347","HP:0010745"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent 2nd toe bones"}]} +{"alt_ids":["HP:0100365"],"definition":"Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia.","id":"HP:0010431","name":"Short phalanx of the 2nd toe","obsolete":false,"parents":["HP:0010325","HP:0010347","HP:0010746"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic/small phalanges of the 2nd toe"},{"scope":"EXACT","text":"Short 2nd toe bone"},{"scope":"EXACT","text":"Short phalanx of the second toe"}]} +{"alt_ids":[],"definition":"Absence of distal phalanx of the second toe as a result of developmental aplasia.","id":"HP:0010432","name":"Absent distal phalanx of the 2nd toe","obsolete":false,"parents":["HP:0010413","HP:0010430","HP:0010645"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent distal phalanx of the second toe"},{"scope":"EXACT","text":"Absent outermost bone of the 2nd toe"},{"scope":"EXACT","text":"Aplasia of the distal phalanx of the 2nd toe"}]} +{"alt_ids":[],"definition":"Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia.","id":"HP:0010433","name":"Short distal phalanx of the 2nd toe","obsolete":false,"parents":["HP:0010413","HP:0010431"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic/small distal phalanx of the 2nd toe"},{"scope":"EXACT","text":"Short distal phalanx of the second toe"},{"scope":"EXACT","text":"Short outermost bone of the 2nd toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010434","name":"Aplasia of the middle phalanx of the 2nd toe","obsolete":false,"parents":["HP:0010404","HP:0010430","HP:0100388"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent middle bone of 2nd toe"}]} +{"alt_ids":[],"definition":"Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia.","id":"HP:0010435","name":"Short middle phalanx of the 2nd toe","obsolete":false,"parents":["HP:0010404","HP:0010431"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic/small middle phalanx of the 2nd toe"},{"scope":"EXACT","text":"Short middle 2nd toe bone"},{"scope":"EXACT","text":"Short middle phalanx of the second toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010436","name":"Aplasia of the proximal phalanx of the 2nd toe","obsolete":false,"parents":["HP:0010395","HP:0010430"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent innermost 2nd toe bone"}]} +{"alt_ids":[],"definition":"Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia.","id":"HP:0010437","name":"Short proximal phalanx of the 2nd toe","obsolete":false,"parents":["HP:0010395","HP:0010431"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic/small proximal phalanx of the 2nd toe"},{"scope":"EXACT","text":"Short innermost 2nd toe bone"},{"scope":"EXACT","text":"Short proximal phalanx of the second toe"}]} +{"alt_ids":["HP:0001628"],"definition":"A structural abnormality of the interventricular septum.","id":"HP:0010438","name":"Abnormal ventricular septum morphology","obsolete":false,"parents":["HP:0001671","HP:0001713"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal interventricular septum morphology"},{"scope":"EXACT","text":"Abnormality of the ventricular septum"},{"scope":"EXACT","text":"Ventricular septum abnormality"}]} +{"alt_ids":[],"definition":"In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).","id":"HP:0010440","name":"Ectopic accessory toe-like appendage","obsolete":false,"parents":["HP:0001829"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).","id":"HP:0010441","name":"Ectopic accessory finger-like appendage","obsolete":false,"parents":["HP:0001161"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006034","HP:0006046","HP:0006123","HP:0009605"],"definition":"A congenital anomaly characterized by the presence of supernumerary fingers or toes.","id":"HP:0010442","name":"Polydactyly","obsolete":false,"parents":["HP:0011297"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"More than five fingers or toes on hands or feet"}]} +{"alt_ids":[],"definition":"A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side.","id":"HP:0010443","name":"Bifid femur","obsolete":false,"parents":["HP:0002823"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Notched thighbone"},{"scope":"EXACT","text":"Split thighbone"}]} +{"alt_ids":[],"definition":"The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.","id":"HP:0010444","name":"Pulmonic regurgitation","obsolete":false,"parents":["HP:0031654"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pulmonary incompetence"},{"scope":"EXACT","text":"Pulmonary valve insufficiency"},{"scope":"EXACT","text":"Pulmonary valve regurgitation"},{"scope":"EXACT","text":"Puolmonary valve insufficiency"}]} +{"alt_ids":[],"definition":"An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum.","id":"HP:0010445","name":"Primum atrial septal defect","obsolete":false,"parents":["HP:0001631"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atrial septal defect, primum type"},{"scope":"EXACT","text":"Ostium primum atrial septal defect"},{"scope":"EXACT","text":"Primum atrioventricular canal defect"},{"scope":"EXACT","text":"Septum primum defect"},{"scope":"EXACT","text":"ostium primum ASD"}]} +{"alt_ids":[],"definition":"A narrowing of the orifice of the tricuspid valve of the heart.","id":"HP:0010446","name":"Tricuspid stenosis","obsolete":false,"parents":["HP:0031651"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal connection between the epithelialised surface of the anal canal and the perianal skin.","id":"HP:0010447","name":"Anal fistula","obsolete":false,"parents":["HP:0034915","HP:0100819"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fistula in ano"}]} +{"alt_ids":[],"definition":"A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon.","id":"HP:0010448","name":"Colonic atresia","obsolete":false,"parents":["HP:0002250","HP:0011100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atresia of the large intestine"},{"scope":"EXACT","text":"Large intestinal atresia"}]} +{"alt_ids":[],"definition":"An abnormal narrowing of the lumen of the esophagus.","id":"HP:0010450","name":"Esophageal stenosis","obsolete":false,"parents":["HP:0002031"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrowing of the esophagus"},{"scope":"EXACT","text":"Narrowing of the oesophagus"}]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the spleen.","id":"HP:0010451","name":"Aplasia/Hypoplasia of the spleen","obsolete":false,"parents":["HP:0025408"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small spleen"},{"scope":"EXACT","text":"Absent/underdeveloped spleen"}]} +{"alt_ids":[],"definition":"An abnormal (non-anatomic) location of the spleen.","id":"HP:0010452","name":"Ectopia of the spleen","obsolete":false,"parents":["HP:0025408"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal spleen location"},{"scope":"EXACT","text":"Ectopic spleen"}]} +{"alt_ids":[],"definition":"Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology.","id":"HP:0010453","name":"Pelvic bone asymmetry","obsolete":false,"parents":["HP:0040163"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Asymmetric pelvis"},{"scope":"BROAD","text":"Pelvic asymmetry"}]} +{"alt_ids":[],"definition":"The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum.","id":"HP:0010454","name":"Acetabular spurs","obsolete":false,"parents":["HP:0003170"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance.","id":"HP:0010455","name":"Steep acetabular roof","obsolete":false,"parents":["HP:0003170"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0030266"],"definition":"An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.","id":"HP:0010456","name":"Abnormal greater sciatic notch morphology","obsolete":false,"parents":["HP:0002644"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of greater sciatic notch"},{"scope":"EXACT","text":"Abnormality of the greater sacrosciatic notch"},{"scope":"EXACT","text":"Abnormality of the sacroiliac notch"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010457","name":"obsolete Widening of the sacrosciatic notch","obsolete":true,"parents":[],"replaced_by":["HP:0008798"],"synonyms":[]} +{"alt_ids":[],"definition":"Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized.","id":"HP:0010458","name":"Female pseudohermaphroditism","obsolete":false,"parents":["HP:0000055"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003242"],"definition":"The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism.","id":"HP:0010459","name":"True hermaphroditism","obsolete":false,"parents":["HP:0000062"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Testicular and ovarian tissue present"}]} +{"alt_ids":[],"definition":"Abnormality of the female genital system.","id":"HP:0010460","name":"Abnormality of the female genitalia","obsolete":false,"parents":["HP:0012243"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormality of the male genital system.","id":"HP:0010461","name":"Abnormality of the male genitalia","obsolete":false,"parents":["HP:0012243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal male genitals"},{"scope":"EXACT","text":"Abnormality of the male genitalia"}]} +{"alt_ids":[],"definition":"Aplasia or developmental hypoplasia of the ovary.","id":"HP:0010462","name":"Aplasia/Hypoplasia of the ovary","obsolete":false,"parents":["HP:0031065"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small ovary"},{"scope":"EXACT","text":"Absent/underdeveloped ovary"}]} +{"alt_ids":[],"definition":"Aplasia, that is failure to develop, of the ovary.","id":"HP:0010463","name":"Aplasia of the ovary","obsolete":false,"parents":["HP:0010462"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent ovary"},{"scope":"RELATED","text":"Aplasia of the ovaries"},{"scope":"RELATED","text":"Bilateral absent ovaries"}]} +{"alt_ids":[],"definition":"A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.","id":"HP:0010464","name":"Streak ovary","obsolete":false,"parents":["HP:0008724"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The onset of puberty before the age of 8 years in girls.","id":"HP:0010465","name":"Precocious puberty in females","obsolete":false,"parents":["HP:0000826"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the testes.","id":"HP:0010468","name":"Aplasia/Hypoplasia of the testes","obsolete":false,"parents":["HP:0045058"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small testes"},{"scope":"EXACT","text":"Absent/underdeveloped testes"}]} +{"alt_ids":[],"definition":"Testis not palpable in the scrotum or inguinal canal.","id":"HP:0010469","name":"Absent testis","obsolete":false,"parents":["HP:0010468"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of palpable testicules"},{"scope":"EXACT","text":"Absent testes"},{"scope":"EXACT","text":"Aplasia of the testes"}]} +{"alt_ids":[],"definition":"The presence of more than two testes.","id":"HP:0010470","name":"Supernumerary testes","obsolete":false,"parents":["HP:0000035"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extra testes"},{"scope":"EXACT","text":"Polyorchidism"}]} +{"alt_ids":[],"definition":"Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins.","id":"HP:0010471","name":"Oligosacchariduria","obsolete":false,"parents":["HP:0031979"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of porphyrins in the blood circulation.","id":"HP:0010472","name":"Abnormal circulating porphyrin concentration","obsolete":false,"parents":["HP:0004364"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal porphyrins level"}]} +{"alt_ids":[],"definition":"Abnormally increased excretion of porphyrins in the urine.","id":"HP:0010473","name":"Porphyrinuria","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Buildups of minerals that form in the urinary bladder.","id":"HP:0010474","name":"Bladder stones","obsolete":false,"parents":["HP:0025487"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cystolithiasis"}]} +{"alt_ids":[],"definition":"Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus.","id":"HP:0010475","name":"Cloacal exstrophy","obsolete":false,"parents":["HP:0012620","HP:0100548"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the urinary bladder.","id":"HP:0010476","name":"Aplasia/Hypoplasia of the bladder","obsolete":false,"parents":["HP:0025487"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small bladder"},{"scope":"EXACT","text":"Absent/underdeveloped bladder"}]} +{"alt_ids":[],"definition":"Aplasia (absence) of the urinary bladder.","id":"HP:0010477","name":"Aplasia of the bladder","obsolete":false,"parents":["HP:0010476"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent bladder"}]} +{"alt_ids":[],"definition":"Abnormality of the urachus.","id":"HP:0010478","name":"Abnormality of the urachus","obsolete":false,"parents":["HP:0025487"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus.","id":"HP:0010479","name":"Patent urachus","obsolete":false,"parents":["HP:0010478"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Persistent urachus"}]} +{"alt_ids":[],"definition":"The presence of an abnormal connection between the urethra and another organ or the skin.","id":"HP:0010480","name":"Urethral fistula","obsolete":false,"parents":["HP:0000795","HP:0100589"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of an abnormal membrane obstructing the urethra.","id":"HP:0010481","name":"Urethral valve","obsolete":false,"parents":["HP:0000796"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments.","id":"HP:0010482","name":"Acromelia of the upper limbs","obsolete":false,"parents":["HP:0010884"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Amniotic constriction rings affecting the arms.","id":"HP:0010483","name":"Amniotic constriction rings of arms","obsolete":false,"parents":["HP:0002817","HP:0009775"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase in size of the upper limbs (due to an increase of the size of cells).","id":"HP:0010484","name":"Hypertrophy of the upper limb","obsolete":false,"parents":["HP:0002817"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased size of upper limb"}]} +{"alt_ids":[],"definition":"The ability of the elbow joint to move beyond its normal range of motion.","id":"HP:0010485","name":"Hyperextensibility at elbow","obsolete":false,"parents":["HP:0430046"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger).","id":"HP:0010486","name":"Abnormality of the hypothenar eminence","obsolete":false,"parents":["HP:0001421"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005721"],"definition":"Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence.","id":"HP:0010487","name":"Small hypothenar eminence","obsolete":false,"parents":["HP:0010486"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplasia of the hypothenar eminence"},{"scope":"EXACT","text":"Hypothenar hypoplasia"}]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the palmar creases.","id":"HP:0010488","name":"Aplasia/Hypoplasia of the palmar creases","obsolete":false,"parents":["HP:0010490"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small palm crease"},{"scope":"EXACT","text":"Absent/underdeveloped palm crease"}]} +{"alt_ids":[],"definition":"The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease).","id":"HP:0010489","name":"Absent palmar crease","obsolete":false,"parents":["HP:0010488"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of the palmar creases"},{"scope":"EXACT","text":"Absent palm lines"},{"scope":"EXACT","text":"Aplasia of the palmar creases"}]} +{"alt_ids":[],"definition":"An abnormality of the creases of the skin of palm of hand.","id":"HP:0010490","name":"Abnormal palmar crease morphology","obsolete":false,"parents":["HP:0001018"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the palm lines"},{"scope":"EXACT","text":"Abnormality of the palmar creases"}]} +{"alt_ids":[],"definition":"A narrow segment of significantly reduced circumference of a digit.","id":"HP:0010491","name":"Digital constriction ring","obsolete":false,"parents":["HP:0009775"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Amniotic constriction rings of digits"}]} +{"alt_ids":[],"definition":"Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones.","id":"HP:0010492","name":"Osseous finger syndactyly","obsolete":false,"parents":["HP:0006101"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Osseous syndactyly of the fingers"}]} +{"alt_ids":[],"definition":"An abnormally increased length of the metacarpal bones.","id":"HP:0010493","name":"Long metacarpals","obsolete":false,"parents":["HP:0005916"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elongated long bone of hand"},{"scope":"EXACT","text":"Increased length of metacarpals"}]} +{"alt_ids":[],"definition":"Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments.","id":"HP:0010494","name":"Acromelia of the lower limbs","obsolete":false,"parents":["HP:0006493","HP:0010884"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Amniotic constriction rings affecting the legs.","id":"HP:0010495","name":"Amniotic constriction rings of legs","obsolete":false,"parents":["HP:0002814","HP:0009775"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase in size of the lower limbs (due to an increase of the size of cells).","id":"HP:0010496","name":"Hypertrophy of the lower limb","obsolete":false,"parents":["HP:0002814"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect in which the legs are fused together.","id":"HP:0010497","name":"Sirenomelia","obsolete":false,"parents":["HP:0002814"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Sympodia"}]} +{"alt_ids":[],"definition":"A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood.","id":"HP:0010498","name":"Bipartite patella","obsolete":false,"parents":["HP:0003045"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella.","id":"HP:0010499","name":"Patellar subluxation","obsolete":false,"parents":["HP:0003045"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial knee cap dislocation"},{"scope":"EXACT","text":"Subluxation of patella"}]} +{"alt_ids":[],"definition":"The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh).","id":"HP:0010500","name":"Hyperextensibility of the knee","obsolete":false,"parents":["HP:0034670"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005030","HP:0005192"],"definition":"An abnormal limitation of knee joint mobility.","id":"HP:0010501","name":"Limitation of knee mobility","obsolete":false,"parents":["HP:0001376","HP:0034670"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Limitation of knee mobility"},{"scope":"EXACT","text":"Limited knee movement"}]} +{"alt_ids":[],"definition":"A bending or abnormal curvature of the fibula.","id":"HP:0010502","name":"Fibular bowing","obsolete":false,"parents":["HP:0002979","HP:0002991"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bowed calf bone"}]} +{"alt_ids":[],"definition":"Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition.","id":"HP:0010503","name":"Fibular duplication","obsolete":false,"parents":["HP:0002991"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplicated calf bone"}]} +{"alt_ids":[],"definition":"An abnormal increase in the length of the tibia.","id":"HP:0010504","name":"Increased length of the tibia","obsolete":false,"parents":["HP:0002992"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased length of shankbone"},{"scope":"EXACT","text":"Increased length of shinbone"}]} +{"alt_ids":[],"definition":"An abnormal limitation of the mobility of the ankle joint.","id":"HP:0010505","name":"Limitation of movement at ankles","obsolete":false,"parents":["HP:0001376","HP:0034674"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot.","id":"HP:0010506","name":"Abnormal plantar dermatoglyphics","obsolete":false,"parents":["HP:0007477","HP:0100872"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal dermatoglyphics on feet"},{"scope":"EXACT","text":"Abnormal prints on feet"}]} +{"alt_ids":[],"definition":"A difference in size or shape between the left and right foot.","id":"HP:0010507","name":"Foot asymmetry","obsolete":false,"parents":["HP:0001760"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight.","id":"HP:0010508","name":"Metatarsus valgus","obsolete":false,"parents":["HP:0001832"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the tarsal bones.","id":"HP:0010509","name":"Aplasia of the tarsal bones","obsolete":false,"parents":["HP:0008363"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent ankle bone"},{"scope":"EXACT","text":"Absent tarsals"}]} +{"alt_ids":[],"definition":"An ability of the toe joints to move beyond their normal range of motion.","id":"HP:0010510","name":"Hypermobility of toe joints","obsolete":false,"parents":["HP:0001780"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Toes that appear disproportionately long compared to the foot.","id":"HP:0010511","name":"Long toe","obsolete":false,"parents":["HP:0001780"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased length of toes"},{"scope":"EXACT","text":"Long toe"},{"scope":"EXACT","text":"Long toes"}]} +{"alt_ids":[],"definition":"Calcification within the adrenal glands.","id":"HP:0010512","name":"Adrenal calcification","obsolete":false,"parents":["HP:0010766","HP:0011732"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deposition of calcium salts in the pituitary gland.","id":"HP:0010513","name":"Pituitary calcification","obsolete":false,"parents":["HP:0011747","HP:0430048"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma.","id":"HP:0010514","name":"Hyperpituitarism","obsolete":false,"parents":["HP:0011747"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the thymus.","id":"HP:0010515","name":"Aplasia/Hypoplasia of the thymus","obsolete":false,"parents":["HP:0000777"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small thymus"},{"scope":"EXACT","text":"Absent/underdeveloped thymus"},{"scope":"RELATED","text":"Thymic hypoplasia or aplasia"}]} +{"alt_ids":[],"definition":"Enlargement of the thymus.","id":"HP:0010516","name":"Thymus hyperplasia","obsolete":false,"parents":["HP:0000777"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged thymus"},{"scope":"EXACT","text":"Thymic hyperplasia"}]} +{"alt_ids":[],"definition":"The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend.","id":"HP:0010517","name":"Ectopic thymus tissue","obsolete":false,"parents":["HP:0000777"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal thymus position"}]} +{"alt_ids":[],"definition":"An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct.","id":"HP:0010518","name":"Thyroglossal cyst","obsolete":false,"parents":["HP:0011772"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thyroglossal duct cyst"}]} +{"alt_ids":[],"definition":"An abnormal increase in quantity or strength of fetal movements.","id":"HP:0010519","name":"Increased fetal movement","obsolete":false,"parents":["HP:0001557"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fetal hyperkinesia"},{"scope":"EXACT","text":"Foetal hyperkinesia"},{"scope":"EXACT","text":"Increased foetal movement"}]} +{"alt_ids":[],"definition":"Gait apraxia affecting the ability to make walking movements with the legs.","id":"HP:0010521","name":"Gait apraxia","obsolete":false,"parents":["HP:0001288","HP:0002186"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006871"],"definition":"A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent).","id":"HP:0010522","name":"Dyslexia","obsolete":false,"parents":["HP:0001328"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reading disability"}]} +{"alt_ids":[],"definition":"An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read.","id":"HP:0010523","name":"Alexia","obsolete":false,"parents":["HP:0002167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Text blindness"},{"scope":"EXACT","text":"Word blindness"}]} +{"alt_ids":[],"definition":"Alteration or impairment in the processing or interpretation of sensory information can lead to abnormal perceptions or experiences.","id":"HP:0010524","name":"Disturbed sensory perception","obsolete":false,"parents":["HP:5200204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Agnosia"}]} +{"alt_ids":[],"definition":"The examiner identified the inability to name, move, or touch specific fingers.","id":"HP:0010525","name":"Finger agnosia","obsolete":false,"parents":["HP:0010524"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment.","id":"HP:0010526","name":"Dysgraphia","obsolete":false,"parents":["HP:0002167"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Agraphia"}]} +{"alt_ids":[],"definition":"Tactile agnosia refers to the inability to recognize objects by touch, while the inability to discriminate shape and size by touch is also a related condition.","id":"HP:0010527","name":"Astereognosis","obsolete":false,"parents":["HP:5200406"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Somatosensory agnosia"}]} +{"alt_ids":[],"definition":"Inability to recognize faces of familiar persons.","id":"HP:0010528","name":"Prosopagnosia","obsolete":false,"parents":["HP:0010524"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Face blindness"},{"scope":"EXACT","text":"Facial agnosia"}]} +{"alt_ids":[],"definition":"Echolalia is the automatic imitative repetition of sounds, words, or phrases in the absence of explicit awareness. The repeated words or phrases are typically odd or used in a non-social manner. These can be words or phrases that the affected individual has heard or invented.","id":"HP:0010529","name":"Echolalia","obsolete":false,"parents":["HP:4000074"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Echoing another person's speech"},{"scope":"EXACT","text":"Echologia"},{"scope":"EXACT","text":"Echophrasia"},{"scope":"EXACT","text":"Repeated speech"}]} +{"alt_ids":[],"definition":"Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. PT is a rare type of tremor involving the soft palate. It can be unilateral or bilateral.","id":"HP:0010530","name":"Palatal tremor","obsolete":false,"parents":["HP:0001336"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Palatal myoclonus"}]} +{"alt_ids":[],"definition":"Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia.","id":"HP:0010531","name":"Spinal myoclonus","obsolete":false,"parents":["HP:0001336"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Paroxysmal episodes of vertigo.","id":"HP:0010532","name":"Paroxysmal vertigo","obsolete":false,"parents":["HP:0002321"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The combination of pendular nystagmus, head nodding, and torticollis.","id":"HP:0010533","name":"Spasmus nutans","obsolete":false,"parents":["HP:0012043"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information.","id":"HP:0010534","name":"Transient global amnesia","obsolete":false,"parents":["HP:0002354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.","id":"HP:0010535","name":"Sleep apnea","obsolete":false,"parents":["HP:5200283"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pauses in breathing while sleeping"},{"scope":"EXACT","text":"Sleep apnoea"}]} +{"alt_ids":[],"definition":"Sleep apnea results from a temporary loss of the central drive to the muscles responsible for breathing.","id":"HP:0010536","name":"Central sleep apnea","obsolete":false,"parents":["HP:0010535"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Central sleep apnoea"}]} +{"alt_ids":[],"definition":"An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure).","id":"HP:0010537","name":"Wide cranial sutures","obsolete":false,"parents":["HP:0011329"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad cranial sutures"},{"scope":"EXACT","text":"Diastasis of cranial sutures"},{"scope":"EXACT","text":"Large cranial suture"},{"scope":"EXACT","text":"Persistent open cranial sutures"},{"scope":"EXACT","text":"Sutural diastasis"},{"scope":"EXACT","text":"Widened cranial sutures"},{"scope":"EXACT","text":"open cranial sutures"}]} +{"alt_ids":[],"definition":"An abnormally small sella turcica.","id":"HP:0010538","name":"Small sella turcica","obsolete":false,"parents":["HP:0002679"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Hypoplasia of hypophseal fossa"},{"scope":"NARROW","text":"Hypoplasia of pituitary fossa"},{"scope":"EXACT","text":"Hypoplasia of sella turcica"},{"scope":"NARROW","text":"Small hypophyseal fossa"},{"scope":"NARROW","text":"Small pituitary fossa"}]} +{"alt_ids":[],"definition":"The presence of an abnormally thin calvarium.","id":"HP:0010539","name":"Thin calvarium","obsolete":false,"parents":["HP:0002683"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thin cranial bone"},{"scope":"BROAD","text":"Thin skull bone"}]} +{"alt_ids":[],"definition":"A degree of pneumatization that is increased compared to age-related norms.","id":"HP:0010540","name":"Advanced pneumatization of cranial sinuses","obsolete":false,"parents":["HP:0000245"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction.","id":"HP:0010541","name":"Cutis gyrata of scalp","obsolete":false,"parents":["HP:0001965","HP:0011356"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cutis verticis gyrata"},{"scope":"EXACT","text":"Furrows in thickened skin on top of scalp"},{"scope":"BROAD","text":"Scalp folds"},{"scope":"BROAD","text":"Scalp furrows"},{"scope":"EXACT","text":"Scalp rugae"},{"scope":"EXACT","text":"Thickened folds on top of scalp"},{"scope":"RELATED","text":"Thickening of the scalp"}]} +{"alt_ids":[],"definition":"Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components.","id":"HP:0010542","name":"Vestibular nystagmus","obsolete":false,"parents":["HP:0000639","HP:0031910"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bursts of large-amplitude multidirectional saccades without intersaccadic interval","id":"HP:0010543","name":"Opsoclonus","obsolete":false,"parents":["HP:0012547","HP:0032104"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus.","id":"HP:0010544","name":"Vertical nystagmus","obsolete":false,"parents":["HP:0000639"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone.","id":"HP:0010545","name":"Downbeat nystagmus","obsolete":false,"parents":["HP:0010544"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole as ascertained by electromyography (EMG). If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG.","id":"HP:0010546","name":"Muscle fibrillation","obsolete":false,"parents":["HP:0100022"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EMG: fibrillations on electromyogram"},{"scope":"RELATED","text":"Twitching"}]} +{"alt_ids":[],"definition":"A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation.","id":"HP:0010547","name":"Muscle flaccidity","obsolete":false,"parents":["HP:0001324"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0004304"],"definition":"A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).","id":"HP:0010548","name":"Percussion myotonia","obsolete":false,"parents":["HP:0002486"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Transient swelling of muscle induced by percussion"}]} +{"alt_ids":[],"definition":"Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons.","id":"HP:0010549","name":"Weakness due to upper motor neuron dysfunction","obsolete":false,"parents":["HP:0002493"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Paralysis due to lesions of the principle motor tracts"}]} +{"alt_ids":[],"definition":"Severe or complete weakness of both lower extremities with sparing of the upper extremities.","id":"HP:0010550","name":"Paraplegia","obsolete":false,"parents":["HP:0010551"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Leg paralysis"}]} +{"alt_ids":[],"definition":"Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength.","id":"HP:0010551","name":"Paraplegia/paraparesis","obsolete":false,"parents":["HP:0010549"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications.","id":"HP:0010553","name":"Oculogyric crisis","obsolete":false,"parents":["HP:0001332"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001214","HP:0005637","HP:0006054","HP:0006220"],"definition":"A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.","id":"HP:0010554","name":"Cutaneous finger syndactyly","obsolete":false,"parents":["HP:0006101","HP:0012725"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cutaneous syndactyly of fingers"},{"scope":"EXACT","text":"Cutaneous syndactyly of hands"},{"scope":"EXACT","text":"Webbed fingers"},{"scope":"EXACT","text":"Webbed skin of fingers"}]} +{"alt_ids":[],"definition":"A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.","id":"HP:0010557","name":"Overlapping fingers","obsolete":false,"parents":["HP:0004097"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum.","id":"HP:0010558","name":"Abnormal clivus morphology","obsolete":false,"parents":["HP:0000932"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the clivus"}]} +{"alt_ids":[],"definition":"An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum).","id":"HP:0010559","name":"Vertical clivus","obsolete":false,"parents":["HP:0010558"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally wavy surface or edge of the clavicles.","id":"HP:0010560","name":"Undulate clavicle","obsolete":false,"parents":["HP:0000889"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Undulate clavicles"},{"scope":"EXACT","text":"Wavy clavicles"},{"scope":"EXACT","text":"Wavy collarbone"}]} +{"alt_ids":[],"definition":"An abnormally wavy surface or edge of the ribs.","id":"HP:0010561","name":"Undulate ribs","obsolete":false,"parents":["HP:0000772"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wavy ribs"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010562","name":"Keloids","obsolete":false,"parents":["HP:0000987"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation.","id":"HP:0010564","name":"Bifid epiglottis","obsolete":false,"parents":["HP:0005483"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This term applies if the Epiglottis is absent or hypoplastic.","id":"HP:0010565","name":"Aplasia/Hypoplasia of the Epiglottis","obsolete":false,"parents":["HP:0005483"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma.","id":"HP:0010566","name":"Hamartoma","obsolete":false,"parents":["HP:0011792"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly.","id":"HP:0010567","name":"Y-shaped metatarsals","obsolete":false,"parents":["HP:0001832"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Y-shaped long bone of foot"}]} +{"alt_ids":[],"definition":"A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye.","id":"HP:0010568","name":"Hamartoma of the eye","obsolete":false,"parents":["HP:0030670","HP:0100012"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of 7-dehydrocholesterol in the blood circulation is above the upper limit of normal.","id":"HP:0010569","name":"Elevated circulating 7-dehydrocholesterol concentration","obsolete":false,"parents":["HP:0034934"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated 7-dehydrocholesterol concentration"},{"scope":"EXACT","text":"Elevated 7-dehydrocholesterol level"},{"scope":"EXACT","text":"Elevated 7-dehydrocholesterol level in blood"},{"scope":"EXACT","text":"Elevated levels of cholesta-5,7-dien-3beta-ol"},{"scope":"EXACT","text":"Increased 7-dehydrocholesterol concentration"},{"scope":"EXACT","text":"Increased 7-dehydrocholesterol level"},{"scope":"EXACT","text":"Increased 7-dehydrocholesterol level in blood"}]} +{"alt_ids":[],"definition":"An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age.","id":"HP:0010570","name":"Low maternal circulating alpha-fetoprotein concentration","obsolete":false,"parents":["HP:0011436"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low maternal serum alpha-fetoprotein"}]} +{"alt_ids":[],"definition":"An abnormal elevation of phytanic acid.","id":"HP:0010571","name":"Elevated circulating phytanic acid concentration","obsolete":false,"parents":["HP:0010965"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated level of phytanic acid"},{"scope":"EXACT","text":"Elevated levels of phytanic acid"}]} +{"alt_ids":["HP:0010589"],"definition":"Any abnormality of the proximal epiphysis of the femur.","id":"HP:0010574","name":"Abnormality of the epiphysis of the femoral head","obsolete":false,"parents":["HP:0003368","HP:0006499"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the innermost thighbone"},{"scope":"EXACT","text":"Abnormality of the proximal femoral epiphysis"}]} +{"alt_ids":[],"definition":"The presence of developmental dysplasia of the femoral head.","id":"HP:0010575","name":"Dysplasia of the femoral head","obsolete":false,"parents":["HP:0003368"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Abnormality of femoral head development"},{"scope":"EXACT","text":"Dysplastic femoral head"}]} +{"alt_ids":[],"definition":"A cystic lesion originating within the brain.","id":"HP:0010576","name":"Intracranial cystic lesion","obsolete":false,"parents":["HP:0030724"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cerebral cystic malformation"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010577","name":"Absent epiphyses","obsolete":false,"parents":["HP:0005930"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010578","name":"Bracket epiphyses","obsolete":false,"parents":["HP:0005930"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of long bone"}]} +{"alt_ids":["HP:0000937","HP:0006078"],"definition":"Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.","id":"HP:0010579","name":"Cone-shaped epiphysis","obsolete":false,"parents":["HP:0005930"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of bone"},{"scope":"EXACT","text":"Cone-shaped epiphyses"},{"scope":"EXACT","text":"Coned epiphyses"}]} +{"alt_ids":["HP:0003018","HP:0003055","HP:0005082"],"definition":"Increased size of epiphyses.","id":"HP:0010580","name":"Enlarged epiphyses","obsolete":false,"parents":["HP:0005930"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Large end part of bone"},{"scope":"EXACT","text":"Large epiphyses"},{"scope":"EXACT","text":"Widened, distorted epiphyses"}]} +{"alt_ids":["HP:0002765","HP:0003039","HP:0005007","HP:0005023","HP:0005749","HP:0010581"],"definition":"An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.","id":"HP:0010582","name":"Irregular epiphyses","obsolete":false,"parents":["HP:0005930"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of long bone"}]} +{"alt_ids":[],"definition":"Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.","id":"HP:0010583","name":"Ivory epiphyses","obsolete":false,"parents":["HP:0005930"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Epiphyseal sclerosis"},{"scope":"EXACT","text":"Increased bone density in end part of bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010584","name":"Pseudoepiphyses","obsolete":false,"parents":["HP:0005930"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005730"],"definition":"Reduction in the size or volume of epiphyses.","id":"HP:0010585","name":"Small epiphyses","obsolete":false,"parents":["HP:0005930"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of bone"}]} +{"alt_ids":[],"definition":"Longitudinal epiphyseal bracket or bracket epiphysis is an uncommon disorder of growth. Alternatively known as a delta phalanx, it is due to an anomalous secondary ossification center that extends longitudinally along the diaphysis. Although rare, longitudinal epiphyseal bracket most commonly manifests in the hands as clinodactyly and in the feet as hallux varus.","id":"HP:0010587","name":"Triangular epiphysis","obsolete":false,"parents":["HP:0005930"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Longitudinal epiphyseal bracket"},{"scope":"EXACT","text":"Triangular end part of bone"},{"scope":"EXACT","text":"Triangular epiphyses"}]} +{"alt_ids":[],"definition":"Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.","id":"HP:0010588","name":"Premature epimetaphyseal fusion","obsolete":false,"parents":["HP:0005930"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Premature closure of epiphyses"}]} +{"alt_ids":[],"definition":"Any abnormality of the distal epiphysis of the femur.","id":"HP:0010590","name":"Abnormality of the distal femoral epiphysis","obsolete":false,"parents":["HP:0006499"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the outermost thighbone"}]} +{"alt_ids":[],"definition":"Any abnormality of the proximal epiphysis of the tibia.","id":"HP:0010591","name":"Abnormality of the proximal tibial epiphysis","obsolete":false,"parents":["HP:0006508"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of innermost shankbone"},{"scope":"EXACT","text":"Abnormality of the end part of innermost shinbone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010592","name":"Abnormality of the distal tibial epiphysis","obsolete":false,"parents":["HP:0006508"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of outermost shankbone"},{"scope":"EXACT","text":"Abnormality of the end part of outermost shinbone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010593","name":"Abnormal fibular epiphysis morphology","obsolete":false,"parents":["HP:0006500"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of fibular epiphyses"},{"scope":"EXACT","text":"Abnormality of the end part of the calf bone"}]} +{"alt_ids":[],"definition":"Any abnormality of the proximal epiphysis of the fibula.","id":"HP:0010594","name":"Abnormality of the proximal fibular epiphysis","obsolete":false,"parents":["HP:0010593"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the innermost end part of calf bone"}]} +{"alt_ids":[],"definition":"Any abnormality of the distal epiphysis of the fibula.","id":"HP:0010595","name":"Abnormality of the distal fibular epiphysis","obsolete":false,"parents":["HP:0010593"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the outermost end part of calf bone"}]} +{"alt_ids":[],"definition":"Any abnormality of the proximal epiphysis of the radius.","id":"HP:0010596","name":"Abnormal proximal radial epiphysis morphology","obsolete":false,"parents":["HP:0003946","HP:0003999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the proximal radial epiphysis"}]} +{"alt_ids":[],"definition":"Any abnormality of the distal epiphysis of the radius.","id":"HP:0010597","name":"Abnormality of the distal radial epiphysis","obsolete":false,"parents":["HP:0003999"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality of the proximal epiphysis of the humerus.","id":"HP:0010598","name":"Abnormality of the proximal humeral epiphysis","obsolete":false,"parents":["HP:0003891"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the innermost long bone in upper arm"}]} +{"alt_ids":[],"definition":"Any abnormality of the distal epiphysis of the humerus.","id":"HP:0010599","name":"Abnormal distal humeral epiphysis morphology","obsolete":false,"parents":["HP:0003891","HP:0003946"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the distal humeral epiphysis"},{"scope":"EXACT","text":"Abnormality of the end part of the outermost long bone in upper arm"}]} +{"alt_ids":[],"definition":"Any abnormality of the distal epiphysis of the ulna.","id":"HP:0010600","name":"Abnormal distal ulnar epiphysis morphology","obsolete":false,"parents":["HP:0004037"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the distal ulnar epiphysis"}]} +{"alt_ids":[],"definition":"Any abnormality of the proximal epiphysis of the ulna.","id":"HP:0010601","name":"Abnormal proximal ulnar epiphysis morphology","obsolete":false,"parents":["HP:0003946","HP:0004037"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the proximal ulnar epiphysis"}]} +{"alt_ids":[],"definition":"An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy).","id":"HP:0010602","name":"Type 2 muscle fiber predominance","obsolete":false,"parents":["HP:0033684"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Type 2 muscle fibre predominance"},{"scope":"EXACT","text":"Type II muscle fiber predominance"},{"scope":"EXACT","text":"Type II muscle fibre predominance"}]} +{"alt_ids":[],"definition":"A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behavior.","id":"HP:0010603","name":"Odontogenic keratocysts of the jaw","obsolete":false,"parents":["HP:0100612"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Keratocystic odontogenic tumor"},{"scope":"EXACT","text":"Keratocystic odontogenic tumour"},{"scope":"EXACT","text":"Keratocysts of the jaw"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010604","name":"Cyst of the eyelid","obsolete":false,"parents":["HP:0010732","HP:0200040"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cyst of the eyelid"},{"scope":"EXACT","text":"Eyelid bump"},{"scope":"EXACT","text":"Eyelid mass"},{"scope":"BROAD","text":"Lesion of the eyelid"}]} +{"alt_ids":[],"definition":"A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes.","id":"HP:0010605","name":"Chalazion","obsolete":false,"parents":["HP:0010604"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Meibomian gland lipogranuloma"}]} +{"alt_ids":[],"definition":"An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling.","id":"HP:0010606","name":"Hordeolum","obsolete":false,"parents":["HP:0010732"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Red bump on eyelid"},{"scope":"EXACT","text":"Stye of eyelid"}]} +{"alt_ids":[],"definition":"Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling.","id":"HP:0010607","name":"Hordeolum externum","obsolete":false,"parents":["HP:0010606"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling.","id":"HP:0010608","name":"Hordeolum internum","obsolete":false,"parents":["HP:0010606"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Red bump on inner eyelid"},{"scope":"EXACT","text":"Stye of inner eyelid"}]} +{"alt_ids":[],"definition":"Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.","id":"HP:0010609","name":"Skin tags","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acrochorda"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010610","name":"Palmar pits","obsolete":false,"parents":["HP:0040211","HP:0100276"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot.","id":"HP:0010612","name":"Plantar pits","obsolete":false,"parents":["HP:0100276","HP:0100872"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term \"fibroblastic\" or \"fibromatous\" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors.","id":"HP:0010614","name":"Fibroma","obsolete":false,"parents":["HP:0012316","HP:0030448"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Angiofibroma consist of many often dilated vessels.","id":"HP:0010615","name":"Angiofibromas","obsolete":false,"parents":["HP:0010614"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a lung fibroma, a benign neoplasm that can present as a mass causing airway obstruction, cough, and hemoptysis, or present without symptoms as a solitary pulmonary nodule.","id":"HP:0010616","name":"Lung fibroma","obsolete":false,"parents":["HP:0010614","HP:0100526"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A fibroma of the heart.","id":"HP:0010617","name":"Cardiac fibroma","obsolete":false,"parents":["HP:0010614","HP:0100544"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a fibroma of the ovary.","id":"HP:0010618","name":"Ovarian fibroma","obsolete":false,"parents":["HP:0010614","HP:0100615"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign biphasic tumor of the breast with epithelial and stromal components.","id":"HP:0010619","name":"Fibroadenoma of the breast","obsolete":false,"parents":["HP:0010614","HP:0100013"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Breast fibroadenoma"},{"scope":"EXACT","text":"Breast fibroadenomas"},{"scope":"EXACT","text":"Breast fibroadenosis"},{"scope":"EXACT","text":"Fibroadenosis - breast"},{"scope":"EXACT","text":"Fibroadenosis of breast"}]} +{"alt_ids":["HP:0000310"],"definition":"Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face.","id":"HP:0010620","name":"Malar prominence","obsolete":false,"parents":["HP:0010668"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Hyperplasia of malar bones"},{"scope":"EXACT","text":"Malar excess"},{"scope":"EXACT","text":"Malar hyperplasia"},{"scope":"EXACT","text":"Prominent malar region"}]} +{"alt_ids":["HP:0001990","HP:0004707","HP:0010555"],"definition":"A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria.","id":"HP:0010621","name":"Cutaneous syndactyly of toes","obsolete":false,"parents":["HP:0001770","HP:0012725"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cutaneous syndactyly of feet"},{"scope":"EXACT","text":"Webbed skin of toes"},{"scope":"EXACT","text":"soft tissue syndactyly of toes"}]} +{"alt_ids":[],"definition":"A tumor (abnormal growth of tissue) of the skeleton.","id":"HP:0010622","name":"Neoplasm of the skeletal system","obsolete":false,"parents":["HP:0011793","HP:0011842"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Bone neoplasm"},{"scope":"NARROW","text":"Neoplasia of the skeletal system"},{"scope":"EXACT","text":"Skeletal tumor"},{"scope":"EXACT","text":"Skeletal tumour"}]} +{"alt_ids":["HP:0008381","HP:0008389"],"definition":"Absence or underdevelopment of the toenail.","id":"HP:0010624","name":"Aplastic/hypoplastic toenail","obsolete":false,"parents":["HP:0008386","HP:0008388"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small toenails"},{"scope":"EXACT","text":"Absent/underdeveloped toenails"},{"scope":"EXACT","text":"Aplastic/hypoplastic toenails"},{"scope":"EXACT","text":"Hypoplastic-absent toenails"}]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis.","id":"HP:0010625","name":"Anterior pituitary dysgenesis","obsolete":false,"parents":["HP:0011747"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Adenohypophysis"}]} +{"alt_ids":[],"definition":"Absence of the anterior pituitary gland resulting from a developmental defect.","id":"HP:0010626","name":"Anterior pituitary agenesis","obsolete":false,"parents":["HP:0010625"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent pituitary gland"},{"scope":"EXACT","text":"Aplasia of the pituitary gland"}]} +{"alt_ids":["HP:0008238"],"definition":"Underdevelopment of the anterior pituitary gland.","id":"HP:0010627","name":"Anterior pituitary hypoplasia","obsolete":false,"parents":["HP:0010625"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Hypoplasia of the pituitary gland"},{"scope":"EXACT","text":"Hypoplastic adenohypophysis"},{"scope":"EXACT","text":"Small anterior pituitary lobe"},{"scope":"EXACT","text":"Underdeveloped pituitary gland"}]} +{"alt_ids":["HP:0000296","HP:0000302","HP:0000344","HP:0000353","HP:0002008","HP:0002259","HP:0002517","HP:0004670","HP:0007212","HP:0200004"],"definition":"Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.","id":"HP:0010628","name":"Facial palsy","obsolete":false,"parents":["HP:0001324","HP:0006824","HP:0010827","HP:0030319"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bell's palsy"},{"scope":"EXACT","text":"Cranial nerve VII palsy"},{"scope":"RELATED","text":"Facial muscle weakness of muscles innervated by CN VII"},{"scope":"EXACT","text":"Facial nerve palsy"},{"scope":"EXACT","text":"Facial nerve paralysis"},{"scope":"EXACT","text":"Facial palsy, unilateral or bilateral"},{"scope":"EXACT","text":"Seventh cranial nerve palsy"},{"scope":"EXACT","text":"VII th cranial nerve palsy"}]} +{"alt_ids":[],"definition":"Any abnormality affecting the cortex of the humerus.","id":"HP:0010629","name":"Abnormal morphology of the cortex of the humerus","obsolete":false,"parents":["HP:0003103","HP:0031095"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality of a metatarsal bone epiphysis.","id":"HP:0010630","name":"Abnormal metatarsal epiphysis morphology","obsolete":false,"parents":["HP:0001832","HP:0010631"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of end part of long bone of foot"},{"scope":"EXACT","text":"Abnormality of metatarsal epiphysis"},{"scope":"EXACT","text":"Abnormality of the epiphyses of the metatarsals"}]} +{"alt_ids":[],"definition":"Any abnormality of the epiphyses of the feet.","id":"HP:0010631","name":"Abnormality of the epiphyses of the feet","obsolete":false,"parents":["HP:0006500"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the foot bone"}]} +{"alt_ids":[],"definition":"Inability to detect any qualitative olfactory sensation.","id":"HP:0010632","name":"Total anosmia","obsolete":false,"parents":["HP:0000458"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).","id":"HP:0010633","name":"Partial anosmia","obsolete":false,"parents":["HP:0000458"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced ability to detect any qualitative olfactory sensation.","id":"HP:0010634","name":"Total hyposmia","obsolete":false,"parents":["HP:0004409"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).","id":"HP:0010635","name":"Partial hyposmia","obsolete":false,"parents":["HP:0004409"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area.","id":"HP:0010636","name":"Schizencephaly","obsolete":false,"parents":["HP:0002060"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of amyloidosis that affects the conjunctiva.","id":"HP:0010637","name":"Conjunctival amyloidosis","obsolete":false,"parents":["HP:0000502","HP:0020015"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.","id":"HP:0010638","name":"Elevated alkaline phosphatase of hepatic origin","obsolete":false,"parents":["HP:0010679"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated ALP of hepatic origin"}]} +{"alt_ids":["HP:0008266"],"definition":"An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.","id":"HP:0010639","name":"Elevated alkaline phosphatase of bone origin","obsolete":false,"parents":["HP:0010679"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated ALP of bone origin"},{"scope":"EXACT","text":"Elevated alkaline phosphatase of bone origin"},{"scope":"EXACT","text":"Increased serum bone-specific alkaline phosphatase"}]} +{"alt_ids":[],"definition":"Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures).","id":"HP:0010640","name":"Abnormal nasal cavity morphology","obsolete":false,"parents":["HP:0005105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the nasal cavity"}]} +{"alt_ids":[],"definition":"Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae.","id":"HP:0010641","name":"Abnormality of the midnasal cavity","obsolete":false,"parents":["HP:0010640"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence or abnormal closure of the midnasal cavity.","id":"HP:0010643","name":"Midnasal atresia","obsolete":false,"parents":["HP:0010644"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0010642"],"definition":"Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress.","id":"HP:0010644","name":"Midnasal stenosis","obsolete":false,"parents":["HP:0010641"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Midnasal atresia or stenosis"}]} +{"alt_ids":[],"definition":"Absence of the distal phalanges of the toes.","id":"HP:0010645","name":"Aplasia of the distal phalanges of the toes","obsolete":false,"parents":["HP:0010185","HP:0010745"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent outermost bone of the toes"}]} +{"alt_ids":[],"definition":"An abnormal lack of stability of the cervical spine.","id":"HP:0010646","name":"Cervical spine instability","obsolete":false,"parents":["HP:0003319"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormal increase or reduction in skin elasticity.","id":"HP:0010647","name":"Abnormal elasticity of skin","obsolete":false,"parents":["HP:0011121"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.","id":"HP:0010648","name":"Dermal translucency","obsolete":false,"parents":["HP:0011121"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Translucent skin"}]} +{"alt_ids":[],"definition":"An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae).","id":"HP:0010649","name":"Flat nasal alae","obsolete":false,"parents":["HP:0000429"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Depressed nasal alae"},{"scope":"NARROW","text":"Flat nasal alar cartilage"}]} +{"alt_ids":[],"definition":"An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures.","id":"HP:0010650","name":"Hypoplasia of the premaxilla","obsolete":false,"parents":["HP:0002692","HP:0010756"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased size of premaxilla"},{"scope":"EXACT","text":"Decreased size of the primary palate bone"},{"scope":"EXACT","text":"Hypoplasia of the intermaxillary bone"},{"scope":"EXACT","text":"Hypoplasia of the primary palate bone"},{"scope":"EXACT","text":"Premaxillary bone deficiency"},{"scope":"RELATED","text":"Premaxillary bone retrusion"},{"scope":"RELATED","text":"Premaxillary retrusion"},{"scope":"EXACT","text":"Premaxillary underdevelopment"},{"scope":"EXACT","text":"Primary palate bone deficiency"},{"scope":"RELATED","text":"Primary palate bone retrusion"},{"scope":"EXACT","text":"Small premaxilla"},{"scope":"EXACT","text":"Small primary palate bone"},{"scope":"EXACT","text":"Underdevelopment of premaxilla"},{"scope":"EXACT","text":"Underdevelopment of the premaxilla"},{"scope":"EXACT","text":"Underdevelopment of the primary palate bone"}]} +{"alt_ids":[],"definition":"An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater.","id":"HP:0010651","name":"Abnormal meningeal morphology","obsolete":false,"parents":["HP:0002011"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the meninges"}]} +{"alt_ids":[],"definition":"An abnormality of the Dura mater.","id":"HP:0010652","name":"Abnormal dura mater morphology","obsolete":false,"parents":["HP:0010651"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the dura mater"}]} +{"alt_ids":[],"definition":"An abnormality of the Falx cerebri.","id":"HP:0010653","name":"Abnormality of the falx cerebri","obsolete":false,"parents":["HP:0010652"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the cerebral falx"}]} +{"alt_ids":[],"definition":"A developmental defect characterized by aplasia of the Falx cerebri.","id":"HP:0010654","name":"Aplasia of the falx cerebri","obsolete":false,"parents":["HP:0010653"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent cerebral falx"}]} +{"alt_ids":["HP:0002658","HP:0010586"],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.","id":"HP:0010655","name":"Epiphyseal stippling","obsolete":false,"parents":["HP:0005930","HP:0010656","HP:0010766"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Epiphyseal punctate calcifications"},{"scope":"EXACT","text":"Speckled calcifications in end part of bone"},{"scope":"EXACT","text":"Stippled epiphyses"},{"scope":"EXACT","text":"Stippling of the epiphyses"}]} +{"alt_ids":[],"definition":"An abnormality of the formation and mineralization of an epiphysis.","id":"HP:0010656","name":"Abnormal epiphyseal ossification","obsolete":false,"parents":["HP:0003336"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormal maturation of the end part of a bone"},{"scope":"EXACT","text":"Abnormality of the mineralisation or ossification of the epiphyses"}]} +{"alt_ids":[],"definition":"Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.","id":"HP:0010657","name":"Patchy reduction of bone mineral density","obsolete":false,"parents":["HP:0002797","HP:0004349","HP:0010658"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density).","id":"HP:0010658","name":"Patchy changes of bone mineral density","obsolete":false,"parents":["HP:0004348"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays.","id":"HP:0010659","name":"Patchy variation in bone mineral density","obsolete":false,"parents":["HP:0004349","HP:0010658"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Patchy increased and decreased bone mineral density"}]} +{"alt_ids":["HP:0005921"],"definition":"An abnormality of the formation and mineralization of any bone of the skeleton of hand.","id":"HP:0010660","name":"Abnormal hand bone ossification","obsolete":false,"parents":["HP:0003336","HP:0005922"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormal maturation of the hand bones"},{"scope":"EXACT","text":"Abnormal ossification of hand bones"},{"scope":"EXACT","text":"Abnormality of the mineralisation and ossification of bones of the hand"}]} +{"alt_ids":[],"definition":"A developmental defect characterized by the absence of the third ventricle.","id":"HP:0010661","name":"Absence of the third cerebral ventricle","obsolete":false,"parents":["HP:0010951"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain.","id":"HP:0010662","name":"Abnormal diencephalon morphology","obsolete":false,"parents":["HP:0100547"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the diencephalon"}]} +{"alt_ids":[],"definition":"An abnormality of the thalamus.","id":"HP:0010663","name":"Abnormal thalamus morphology","obsolete":false,"parents":["HP:0010662"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of thalamus"},{"scope":"EXACT","text":"Abnormality of thalamus morphology"},{"scope":"EXACT","text":"Abnormality of the thalamus"}]} +{"alt_ids":[],"definition":"A developmental defect characterized by fusion of the left and right halves of the thalamus.","id":"HP:0010664","name":"Fusion of the left and right thalami","obsolete":false,"parents":["HP:0010663"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused thalami"},{"scope":"RELATED","text":"Fusion of thamali"},{"scope":"EXACT","text":"Undivided thalami"}]} +{"alt_ids":[],"definition":"The presence of bilateral coxa valga.","id":"HP:0010665","name":"Bilateral coxa valga","obsolete":false,"parents":["HP:0002673"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of the anterior nasal spine of maxilla.","id":"HP:0010666","name":"Hypoplasia of the anterior nasal spine","obsolete":false,"parents":["HP:0000327"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Decreased length of anterior nasal spine"},{"scope":"EXACT","text":"Decreased projection of anterior nasal spine"},{"scope":"EXACT","text":"Decreased size of anterior nasal spine"},{"scope":"RELATED","text":"Deficiency of anterior nasal spine"},{"scope":"RELATED","text":"Hypotrophic anterior nasal spine"},{"scope":"EXACT","text":"Small anterior nasal spine"},{"scope":"EXACT","text":"Underdevelopment of anterior nasal spine"}]} +{"alt_ids":[],"definition":"A congenital defect characterized by absence of the Maxilla.","id":"HP:0010667","name":"Aplasia of the maxilla","obsolete":false,"parents":["HP:0000326","HP:0040008"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of the maxilla"},{"scope":"EXACT","text":"Absence of upper jaw bones"},{"scope":"EXACT","text":"Agenesis of the maxilla"},{"scope":"EXACT","text":"Aplasia of the upper jaw bones"},{"scope":"EXACT","text":"Failure of development of maxilla"},{"scope":"BROAD","text":"Failure of development of upper jaw bones"},{"scope":"NARROW","text":"Missing upper jaw bones"}]} +{"alt_ids":["HP:0012369"],"definition":"An abnormality of the zygomatic bone.","id":"HP:0010668","name":"Abnormal zygomatic bone morphology","obsolete":false,"parents":["HP:0000309","HP:0011821"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal malar bone morphology"},{"scope":"EXACT","text":"Abnormality of the cheekbone"},{"scope":"EXACT","text":"Abnormality of the zygomatic bone"},{"scope":"NARROW","text":"Anomaly of the zygomatic bone"},{"scope":"NARROW","text":"Deformity of the cheekbone"},{"scope":"NARROW","text":"Deformity of the zygomatic bone"},{"scope":"NARROW","text":"Malformation of the zygomatic bone"}]} +{"alt_ids":[],"definition":"Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.","id":"HP:0010669","name":"Hypoplasia of the zygomatic bone","obsolete":false,"parents":["HP:0002692","HP:0010668"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cheekbone underdevelopment"},{"scope":"EXACT","text":"Decreased size of cheekbone"},{"scope":"EXACT","text":"Decreased size of zygomatic bone"},{"scope":"BROAD","text":"Depressed cheekbone"},{"scope":"BROAD","text":"Depressed zygomatic bone"},{"scope":"BROAD","text":"Flattening of the zygomatic bone"},{"scope":"EXACT","text":"Hypoplasia of cheekbone"},{"scope":"RELATED","text":"Hypotrophic cheekbone"},{"scope":"RELATED","text":"Hypotrophic zygomatic bone"},{"scope":"RELATED","text":"Hypotrophy of the cheekbone"},{"scope":"RELATED","text":"Hypotrophy of the zygomatic bone"},{"scope":"BROAD","text":"Small cheekbone"},{"scope":"BROAD","text":"Small malar bone"},{"scope":"BROAD","text":"Small zygomatic bone"},{"scope":"EXACT","text":"Underdevelopment of cheekbone"},{"scope":"EXACT","text":"Underdevelopment of zygomatic bone"}]} +{"alt_ids":[],"definition":"An abnormality of the third metatarsal bone.","id":"HP:0010672","name":"Abnormality of the third metatarsal bone","obsolete":false,"parents":["HP:0001832"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the 3rd long bone of foot"}]} +{"alt_ids":[],"definition":"The presence of an abnormal curvature of the vertebral column.","id":"HP:0010674","name":"Abnormal curvature of the vertebral column","obsolete":false,"parents":["HP:0000925"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal curve of the backbone"},{"scope":"EXACT","text":"Abnormal curve of the spine"},{"scope":"EXACT","text":"Abnormal curving of the spine"},{"scope":"EXACT","text":"Abnormality of the curvature of the vertebral column"},{"scope":"EXACT","text":"Curvature of spine"},{"scope":"EXACT","text":"Curved spine"}]} +{"alt_ids":["HP:0008370","HP:0009133"],"definition":"An abnormality of the formation and mineralization of any bone of the skeleton of foot.","id":"HP:0010675","name":"Abnormal foot bone ossification","obsolete":false,"parents":["HP:0001760","HP:0003336"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormal maturation of foot bones"},{"scope":"RELATED","text":"Abnormal ossification involving bones of the feet"},{"scope":"EXACT","text":"Abnormality of the mineralisation and ossification of bones of the feet"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010676","name":"Mechanical ileus","obsolete":false,"parents":["HP:0002595"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Enuresis occurring during sleeping hours.","id":"HP:0010677","name":"Enuresis nocturna","obsolete":false,"parents":["HP:0000805"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nocturnal enuresis"}]} +{"alt_ids":[],"definition":"Enuresis occurring during waking hours of the day.","id":"HP:0010678","name":"Enuresis diurna","obsolete":false,"parents":["HP:0000805"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.","id":"HP:0010679","name":"Elevated tissue non-specific alkaline phosphatase","obsolete":false,"parents":["HP:0003155"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated alkaline phosphatase, liver/bone/kidney"},{"scope":"EXACT","text":"Elevated tissue non-specific ALP"}]} +{"alt_ids":[],"definition":"An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.","id":"HP:0010680","name":"Elevated alkaline phosphatase of renal origin","obsolete":false,"parents":["HP:0010679","HP:0012211"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated ALP of renal origin"}]} +{"alt_ids":[],"definition":"An abnormally increased level of alkaline phosphatase, intestinal type in the blood.","id":"HP:0010681","name":"Elevated intestinal alkaline phosphatase","obsolete":false,"parents":["HP:0003155"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated intestinal ALP"}]} +{"alt_ids":[],"definition":"An abnormally increased level of alkaline phosphatase, placental type in the blood.","id":"HP:0010682","name":"Elevated placental alkaline phosphatase","obsolete":false,"parents":["HP:0003155"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated placental ALP"}]} +{"alt_ids":[],"definition":"An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.","id":"HP:0010683","name":"Low tissue non-specific alkaline phosphatase","obsolete":false,"parents":["HP:0003282"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low tissue non-specific ALP"}]} +{"alt_ids":[],"definition":"An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood.","id":"HP:0010684","name":"Low alkaline phosphatase of bone origin","obsolete":false,"parents":["HP:0003282"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low ALP of bone origin"}]} +{"alt_ids":[],"definition":"An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood.","id":"HP:0010685","name":"Low alkaline phosphatase of renal origin","obsolete":false,"parents":["HP:0003282","HP:0012211"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low ALP of renal origin"}]} +{"alt_ids":[],"definition":"An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood.","id":"HP:0010686","name":"Low alkaline phosphatase of hepatic origin","obsolete":false,"parents":["HP:0003282"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low ALP of hepatic origin"}]} +{"alt_ids":[],"definition":"An abnormally reduced level of alkaline phosphatase, intestinal type in the blood.","id":"HP:0010687","name":"Low intestinal alkaline phosphatase","obsolete":false,"parents":["HP:0003282"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low intestinal ALP"}]} +{"alt_ids":[],"definition":"An abnormally reduced level of alkaline phosphatase, placental type in the blood.","id":"HP:0010688","name":"Low placental alkaline phosphatase","obsolete":false,"parents":["HP:0003282"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low placental ALP"}]} +{"alt_ids":[],"definition":"A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand/foot typically resemble fifth fingers/toes.","id":"HP:0010689","name":"Mirror image polydactyly","obsolete":false,"parents":["HP:0010442"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mirror image duplication of digits"}]} +{"alt_ids":[],"definition":"Mirror image duplication of digits affecting the hands only.","id":"HP:0010690","name":"Mirror image hand polydactyly","obsolete":false,"parents":["HP:0001161","HP:0010689"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mirror image duplication of fingers"}]} +{"alt_ids":[],"definition":"Mirror image duplication of digits affecting the feet.","id":"HP:0010691","name":"Mirror image foot polydactyly","obsolete":false,"parents":["HP:0001829","HP:0010689"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mirror image duplication of toes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010692","name":"obsolete 2-5 finger syndactyly","obsolete":true,"parents":[],"replaced_by":["HP:0005650"],"synonyms":[]} +{"alt_ids":[],"definition":"A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally.","id":"HP:0010693","name":"Pulverulent cataract","obsolete":false,"parents":["HP:0007648"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pulverulent cataract"}]} +{"alt_ids":[],"definition":"A Lamellar cataract with a pulverulent (punctate, \"dust-like\" opacities) appearance.","id":"HP:0010694","name":"Lamellar pulverulent cataract","obsolete":false,"parents":["HP:0007971"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of congenital cataract in which the opacity follows the anterior or posterior Y suture.","id":"HP:0010695","name":"Sutural cataract","obsolete":false,"parents":["HP:0010920"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens.","id":"HP:0010696","name":"Polar cataract","obsolete":false,"parents":["HP:0000518"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of anterior polar cataract which projects as a conical opacity into the anterior chamber.","id":"HP:0010697","name":"Anterior pyramidal cataract","obsolete":false,"parents":["HP:0001134"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Pyramidal cataract"}]} +{"alt_ids":[],"definition":"A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus.","id":"HP:0010698","name":"Nuclear pulverulent cataract","obsolete":false,"parents":["HP:0010693","HP:0010925"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Central pulverulent cataract"},{"scope":"EXACT","text":"Coppock-like cataract"},{"scope":"EXACT","text":"Pulverulent nuclear cataract"},{"scope":"EXACT","text":"cataracta pulverulenta centralis"}]} +{"alt_ids":[],"definition":"A nuclear cataract with a triangular form.","id":"HP:0010699","name":"Triangular nuclear cataract","obsolete":false,"parents":["HP:0100018"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0010700","name":"obsolete Total cataract","obsolete":true,"parents":[],"replaced_by":["HP:0000518"],"synonyms":[]} +{"alt_ids":["HP:0002961","HP:0100032"],"definition":"An abnormal deviation from normal levels of immunoglobulins in blood.","id":"HP:0010701","name":"Abnormal circulating immunoglobulin concentration","obsolete":false,"parents":["HP:0005368","HP:0005372"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal immunoglobulin concentration"},{"scope":"EXACT","text":"Abnormal immunoglobulin level"},{"scope":"EXACT","text":"Abnormal serum immunoglobulin concentration"},{"scope":"EXACT","text":"Abnormal serum immunoglobulin levels"},{"scope":"EXACT","text":"Abnormal serum level of immunoglobulin"},{"scope":"EXACT","text":"Immunoglobulin abnormality"}]} +{"alt_ids":["HP:0002852","HP:0004314","HP:0004435"],"definition":"An increased level of gamma globulin (immunoglobulin) in the blood.","id":"HP:0010702","name":"Increased circulating immunoglobulin concentration","obsolete":false,"parents":["HP:0010701"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated immunoglobulin levels"},{"scope":"EXACT","text":"Hypergammaglobulinaemia"},{"scope":"EXACT","text":"Hypergammaglobulinemia"},{"scope":"EXACT","text":"Increased antibody level in blood"},{"scope":"EXACT","text":"Increased circulating antibody concentration"},{"scope":"EXACT","text":"Increased circulating antibody level"},{"scope":"EXACT","text":"Increased gamma globulin"},{"scope":"EXACT","text":"Increased immunoglobulin level"},{"scope":"EXACT","text":"Increased serum gamma globulin"},{"scope":"EXACT","text":"Raised immunoglobulin levels"}]} +{"alt_ids":[],"definition":"A soft tissue continuity in the anteroposterior axis between the thumb to the index finger that extends distally to at least the level of the proximal interphalangeal joints.","id":"HP:0010704","name":"1-2 finger cutaneous syndactyly","obsolete":false,"parents":["HP:0010554"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Webbed 1st-2nd finger"},{"scope":"EXACT","text":"Webbed thumb and index finger"}]} +{"alt_ids":[],"definition":"A soft tissue continuity in the anteroposterior axis between the fourth (ring) to the fifth (little) finger that extends distally to at least the level of the proximal interphalangeal joints.","id":"HP:0010705","name":"4-5 finger cutaneous syndactyly","obsolete":false,"parents":["HP:0010554"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Webbed 4th-5th finger"}]} +{"alt_ids":[],"definition":"A soft tissue continuity in the anteroposterior axis between the thumb to the middle finger that extends distally to at least the level of the proximal interphalangeal joints.","id":"HP:0010706","name":"1-3 finger cutaneous syndactyly","obsolete":false,"parents":["HP:0010554"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Webbed 1st-3rd finger"}]} +{"alt_ids":[],"definition":"A soft tissue continuity in the anteroposterior axis between the thumb to the ring finger that extends distally to at least the level of the proximal interphalangeal joints.","id":"HP:0010707","name":"1-4 finger cutaneous syndactyly","obsolete":false,"parents":["HP:0010554"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Webbed 1st-4th finger"}]} +{"alt_ids":[],"definition":"A soft tissue continuity in the anteroposterior axis between the thumb to the little finger that extends distally to at least the level of the proximal interphalangeal joints (complete syndactyly of all fingers of the hand).","id":"HP:0010708","name":"1-5 finger cutaneous syndactyly","obsolete":false,"parents":["HP:0010554"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Webbed 1-5 fingers"},{"scope":"EXACT","text":"Webbed 1st-5th fingers"}]} +{"alt_ids":["HP:0005797","HP:0006018"],"definition":"A soft tissue continuity in the anteroposterior axis between the second (index) to the fourth (ring) finger that extends distally to at least the level of the proximal interphalangeal joints.","id":"HP:0010709","name":"2-4 finger cutaneous syndactyly","obsolete":false,"parents":["HP:0010554"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Syndactyly of second to fourth fingers"},{"scope":"EXACT","text":"Webbed index through ring fingers"}]} +{"alt_ids":[],"definition":"A soft tissue continuity in the anteroposterior axis between the middle to little fingers that extends distally to at least the level of the proximal interphalangeal joints.","id":"HP:0010710","name":"3-5 finger syndactyly","obsolete":false,"parents":["HP:0010492"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Webbed third, fourth and fifth toes"}]} +{"alt_ids":[],"definition":"Syndactyly with fusion of toes one and two.","id":"HP:0010711","name":"1-2 toe syndactyly","obsolete":false,"parents":["HP:0001770"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Webbed 1st-2nd toes"},{"scope":"EXACT","text":"Webbed first and second toes"}]} +{"alt_ids":[],"definition":"Syndactyly with fusion of toes one to four.","id":"HP:0010712","name":"1-4 toe syndactyly","obsolete":false,"parents":["HP:0001770"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Webbed first through fourth toes"}]} +{"alt_ids":["HP:0005812"],"definition":"Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot).","id":"HP:0010713","name":"1-5 toe syndactyly","obsolete":false,"parents":["HP:0001770"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Syndactyly of all toes"},{"scope":"EXACT","text":"Webbed 1st-5th toes"}]} +{"alt_ids":["HP:0005642","HP:0005708"],"definition":"Syndactyly with fusion of toes two to four.","id":"HP:0010714","name":"2-4 toe syndactyly","obsolete":false,"parents":["HP:0001770"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Syndactyly of toes 2, 3 and 4"},{"scope":"EXACT","text":"Syndactyly toes 2-4"},{"scope":"EXACT","text":"Webbed 2nd-4th toes"}]} +{"alt_ids":[],"definition":"Syndactyly with fusion of toes two to five.","id":"HP:0010715","name":"2-5 toe syndactyly","obsolete":false,"parents":["HP:0001770"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Webbed 2nd-5th toes"}]} +{"alt_ids":[],"definition":"Syndactyly with fusion of toes three to five.","id":"HP:0010716","name":"3-5 toe syndactyly","obsolete":false,"parents":["HP:0001770"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Webbed 3rd-5th toes"}]} +{"alt_ids":[],"definition":"Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\".","id":"HP:0010717","name":"Osseous syndactyly of toes","obsolete":false,"parents":["HP:0001770","HP:0100235"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Osseous syndactyly of the toes"}]} +{"alt_ids":["HP:0002295","HP:0003776"],"definition":"An abnormality of the texture of the hair.","id":"HP:0010719","name":"Abnormality of hair texture","obsolete":false,"parents":["HP:0001595"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Abnormality of hair consistency"},{"scope":"NARROW","text":"Abnormality of hair curl pattern"},{"scope":"EXACT","text":"Abnormality of hair texture"},{"scope":"NARROW","text":"Abnormality of hair volume"}]} +{"alt_ids":[],"definition":"An abnormality of the distribution of hair growth.","id":"HP:0010720","name":"Abnormal hair pattern","obsolete":false,"parents":["HP:0001595"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal distribution of hair"},{"scope":"EXACT","text":"Abnormal hair pattern"}]} +{"alt_ids":[],"definition":"An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair).","id":"HP:0010721","name":"Abnormal hair whorl","obsolete":false,"parents":["HP:0011361"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal hair whorl"},{"scope":"EXACT","text":"Abnormal hair whorls"},{"scope":"EXACT","text":"Abnormal whorl of hair"}]} +{"alt_ids":[],"definition":"An asymmetriy, i.e., difference in size, shape or position between the left and right ear.","id":"HP:0010722","name":"Asymmetry of the ears","obsolete":false,"parents":["HP:0000357"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Asymmetric ears"}]} +{"alt_ids":["HP:0008557"],"definition":null,"id":"HP:0010723","name":"Cystic lesions of the pinnae","obsolete":false,"parents":["HP:0000377"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.","id":"HP:0010724","name":"Advanced pneumatization of the mastoid process","obsolete":false,"parents":["HP:0000264"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal prominence of the corneal nerve fibers.","id":"HP:0010726","name":"Prominent corneal nerve fibers","obsolete":false,"parents":["HP:0011492"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Myelinated corneal nerves"},{"scope":"EXACT","text":"Peripheral corneal nerve myelination"},{"scope":"EXACT","text":"Peripheral myelinating corneal nerve fibers"},{"scope":"EXACT","text":"Prominent corneal nerve fibres"},{"scope":"EXACT","text":"Visible corneal nerve fibers"},{"scope":"EXACT","text":"Visible corneal nerve fibres"}]} +{"alt_ids":[],"definition":"Rupture of the eyeball not due to trauma.","id":"HP:0010727","name":"Spontaneous rupture of the globe","obsolete":false,"parents":["HP:0012372"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect characterized by absence of the retina.","id":"HP:0010728","name":"Aplasia of the retina","obsolete":false,"parents":["HP:0008061"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent retina"}]} +{"alt_ids":[],"definition":"Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparency of the macula.","id":"HP:0010729","name":"Cherry red spot of the macula","obsolete":false,"parents":["HP:0000630","HP:0001103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Macular cherry red spot"}]} +{"alt_ids":[],"definition":"This may present as a partial or complete duplication of the eyebrows.","id":"HP:0010730","name":"Double eyebrow","obsolete":false,"parents":["HP:0000534"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Double eyebrow"},{"scope":"EXACT","text":"Duplication of eyebrow"}]} +{"alt_ids":[],"definition":"The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid.","id":"HP:0010731","name":"Extension of eyebrows towards upper eyelid","obsolete":false,"parents":["HP:0011229"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extension of eyebrows towards upper eyelid"}]} +{"alt_ids":[],"definition":"Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more.","id":"HP:0010732","name":"Nodular changes affecting the eyelids","obsolete":false,"parents":["HP:0000492","HP:0200036"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eyelid nodules"}]} +{"alt_ids":[],"definition":"Naevus flammeus localized in the skin of the eyelid.","id":"HP:0010733","name":"Naevus flammeus of the eyelid","obsolete":false,"parents":["HP:0001052"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Port-wine stain on eyelid"}]} +{"alt_ids":[],"definition":"replacement of normal bone with abnormal, structurally unsound fibro-osseous tissue, with concomitant obliteration of the hematopoietic bone marrow. The fibrous tissue is rich in fibroblast-like cells that express markers of early stages of osteogenic maturation","id":"HP:0010734","name":"Fibrous dysplasia of bone","obsolete":false,"parents":["HP:0003330"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fibrous dysplasia of the bones"},{"scope":"RELATED","text":"Osteitis fibrosa disseminata"}]} +{"alt_ids":[],"definition":"Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome.","id":"HP:0010735","name":"Polyostotic fibrous dysplasia","obsolete":false,"parents":["HP:0010734"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fibrous dysplasia of the bones were lesions are localized in only one bone.","id":"HP:0010736","name":"Monostotic fibrous dysplasia","obsolete":false,"parents":["HP:0010734"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake.","id":"HP:0010739","name":"Osteopoikilosis","obsolete":false,"parents":["HP:0011001"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance.","id":"HP:0010740","name":"Osteopathia striata","obsolete":false,"parents":["HP:0031367"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.","id":"HP:0010741","name":"Pedal edema","obsolete":false,"parents":["HP:0000969","HP:0002814"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Dependant edema"},{"scope":"RELATED","text":"Dependant oedema"},{"scope":"EXACT","text":"Edema of the lower limbs"},{"scope":"EXACT","text":"Fluid accumulation in lower limbs"},{"scope":"EXACT","text":"Leg edema"},{"scope":"EXACT","text":"Leg oedema"},{"scope":"EXACT","text":"Lower leg swelling"},{"scope":"EXACT","text":"Oedema of the lower limbs"},{"scope":"EXACT","text":"Pedal oedema"},{"scope":"EXACT","text":"Peripheral edema of lower extremity"},{"scope":"EXACT","text":"Peripheral oedema of lower extremity"}]} +{"alt_ids":[],"definition":"An abnormal accumulation of fluid beneath the skin of the arms.","id":"HP:0010742","name":"Edema of the upper limbs","obsolete":false,"parents":["HP:0000969","HP:0002817"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fluid accumulation in upper limbs"},{"scope":"EXACT","text":"Oedema of the upper limbs"}]} +{"alt_ids":["HP:0001779","HP:0001865","HP:0003092","HP:0004706","HP:0005754"],"definition":"Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.","id":"HP:0010743","name":"Short metatarsal","obsolete":false,"parents":["HP:0001964","HP:0003026"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplasia of the metatarsal bones"},{"scope":"EXACT","text":"Hypoplastic metatarsals"},{"scope":"EXACT","text":"Short long bone of foot"},{"scope":"EXACT","text":"Short metatarsal bone"},{"scope":"RELATED","text":"Short metatarsal bones"},{"scope":"EXACT","text":"Short metatarsals"},{"scope":"EXACT","text":"Shortened metatarsals"}]} +{"alt_ids":[],"definition":"A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone.","id":"HP:0010744","name":"Absent metatarsal bone","obsolete":false,"parents":["HP:0001964"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent long bone of foot"},{"scope":"EXACT","text":"Aplasia of the metatarsal bones"}]} +{"alt_ids":[],"definition":"Absence of a digit or of one or more phalanges of a toe.","id":"HP:0010745","name":"Aplasia of the phalanges of the toes","obsolete":false,"parents":["HP:0009817","HP:0010173"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent bones of the toes"},{"scope":"EXACT","text":"Aphalangia of the toes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010746","name":"Hypoplasia of the phalanges of the toes","obsolete":false,"parents":["HP:0010173"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small toe bones"}]} +{"alt_ids":[],"definition":"An abnormal distribution of eyebrow hair growth in the medial direction.","id":"HP:0010747","name":"Medial flaring of the eyebrow","obsolete":false,"parents":["HP:0000534"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Medially flared eyebrows"}]} +{"alt_ids":[],"definition":"Positioning of a lacrimal punctum other than at the medial margins of the eyelid.","id":"HP:0010748","name":"Ectopic lacrimal punctum","obsolete":false,"parents":["HP:0011479"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal position of the lacrimal punctum"}]} +{"alt_ids":[],"definition":"Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads.","id":"HP:0010749","name":"Blepharochalasis","obsolete":false,"parents":["HP:0100540"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Saggy upper eyelid skin"}]} +{"alt_ids":[],"definition":"Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge.","id":"HP:0010750","name":"Dermatochalasis","obsolete":false,"parents":["HP:0000492"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Baggy eyes"},{"scope":"EXACT","text":"Droopy eyelid skin"},{"scope":"EXACT","text":"Extra eyelid skin"},{"scope":"EXACT","text":"Eyelid dermatochalasia"},{"scope":"RELATED","text":"Hooding of eyelids"},{"scope":"EXACT","text":"Redundant eyelid skin"}]} +{"alt_ids":[],"definition":"A persistent midline depression of the skin over the fat pad of the chin.","id":"HP:0010751","name":"Dimple chin","obsolete":false,"parents":["HP:0000306"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chin butt"},{"scope":"EXACT","text":"Chin dent"},{"scope":"EXACT","text":"Chin dimple"},{"scope":"RELATED","text":"Chin dimples"},{"scope":"EXACT","text":"Chin skin dimple"},{"scope":"EXACT","text":"Dimple chin"},{"scope":"EXACT","text":"Gelasin of chin"},{"scope":"EXACT","text":"Indentation of chin"}]} +{"alt_ids":[],"definition":"Midline deficiency of the mandible and some or all overlying tissues.","id":"HP:0010752","name":"Cleft mandible","obsolete":false,"parents":["HP:0010753"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cleft lower jaw"},{"scope":"EXACT","text":"Mandibular cleft"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010753","name":"Midline defect of mandible","obsolete":false,"parents":["HP:0000277"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Midline cleft of mandible"}]} +{"alt_ids":[],"definition":"An anomaly of the temporomandibular joint.","id":"HP:0010754","name":"Abnormality of the temporomandibular joint","obsolete":false,"parents":["HP:0000277"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the jaw joint"},{"scope":"EXACT","text":"Anomaly of the temporomandibular joint"},{"scope":"EXACT","text":"Deformity of the jaw joint"},{"scope":"NARROW","text":"Deformity of the temporomandibular joint"},{"scope":"NARROW","text":"Derangement of the temporomandibular joint"},{"scope":"EXACT","text":"Malformation of jaw joint"},{"scope":"NARROW","text":"Malformation of the temporomandibular joint"}]} +{"alt_ids":[],"definition":"Asymmetry between the left and right sides of the maxilla.","id":"HP:0010755","name":"Asymmetry of the maxilla","obsolete":false,"parents":["HP:0000326"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Asymmetry of right and left side of the maxilla"},{"scope":"BROAD","text":"Asymmetry of the upper jaw"},{"scope":"BROAD","text":"Asymmetry of upper jaw"},{"scope":"EXACT","text":"Canted maxilla"},{"scope":"EXACT","text":"Canted upper jaw"},{"scope":"EXACT","text":"Crooked maxilla"},{"scope":"BROAD","text":"Crooked upper jaw"},{"scope":"RELATED","text":"Deviation of the maxilla"},{"scope":"RELATED","text":"Deviation of the upper jaw"},{"scope":"EXACT","text":"Tilted maxilla"},{"scope":"EXACT","text":"Tilted upper jaw"},{"scope":"EXACT","text":"Unequal sides of maxilla"},{"scope":"EXACT","text":"Uneven maxilla"},{"scope":"EXACT","text":"Uneven upper jaw"}]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the premaxilla.","id":"HP:0010756","name":"Aplasia/Hypoplasia of the premaxilla","obsolete":false,"parents":["HP:0010758"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aplasia/hypoplasia of the intermaxillary bone"},{"scope":"EXACT","text":"Aplasia/hypoplasia of the primary palate bone"}]} +{"alt_ids":[],"definition":"Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla.","id":"HP:0010757","name":"Aplasia of the premaxilla","obsolete":false,"parents":["HP:0010756","HP:0040008"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of the intermaxillary bone"},{"scope":"EXACT","text":"Absence of the premaxilla"},{"scope":"EXACT","text":"Absence of the primary palate bone"},{"scope":"EXACT","text":"Aplasia of the intermaxillary bone"},{"scope":"EXACT","text":"Aplasia of the primary palate bone"},{"scope":"EXACT","text":"Failure of development of premaxilla"},{"scope":"EXACT","text":"Failure of development of the primary palate bone"},{"scope":"EXACT","text":"Missing premaxilla"},{"scope":"EXACT","text":"Missing primary palate bone"}]} +{"alt_ids":[],"definition":"An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate.","id":"HP:0010758","name":"Abnormality of the premaxilla","obsolete":false,"parents":["HP:0000326"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the intermaxillary bone"},{"scope":"EXACT","text":"Abnormality of the intermaxillary segment of the maxilla"},{"scope":"EXACT","text":"Abnormality of the premaxillary bone"},{"scope":"EXACT","text":"Abnormality of the primary palate bone"}]} +{"alt_ids":[],"definition":"Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla.","id":"HP:0010759","name":"Prominence of the premaxilla","obsolete":false,"parents":["HP:0010758"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anterior position of the premaxilla"},{"scope":"EXACT","text":"Anterior position of the primary palate bone"},{"scope":"EXACT","text":"Premaxillary bone excess"},{"scope":"EXACT","text":"Prominence of the intermaxillary bone"},{"scope":"EXACT","text":"Prominence of the primary palate bone"},{"scope":"EXACT","text":"Prominent premaxilla"}]} +{"alt_ids":["HP:0008084","HP:0010108","HP:0011306"],"definition":"Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.","id":"HP:0010760","name":"Absent toe","obsolete":false,"parents":["HP:0001991"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent toe"},{"scope":"EXACT","text":"Absent toes"},{"scope":"RELATED","text":"Aplasia of the toes"},{"scope":"EXACT","text":"Aplasia of toe"}]} +{"alt_ids":[],"definition":"Increased width of the columella.","id":"HP:0010761","name":"Broad columella","obsolete":false,"parents":["HP:0009929"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Columella, broad"},{"scope":"EXACT","text":"Columella, wide"},{"scope":"EXACT","text":"Fullness of columella"},{"scope":"RELATED","text":"Hyperplasia of columella"},{"scope":"EXACT","text":"Increased width of columella"}]} +{"alt_ids":[],"definition":"A chordoma is a tumor that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis.","id":"HP:0010762","name":"Chordoma","obsolete":false,"parents":["HP:0010622"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Insertion of the posterior columella below the nasal base.","id":"HP:0010763","name":"Low insertion of columella","obsolete":false,"parents":["HP:0009929"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Ala higher than columella"},{"scope":"EXACT","text":"Columella, low insertion"}]} +{"alt_ids":[],"definition":"Decreased length of the eyelashes (subjective).","id":"HP:0010764","name":"Short eyelashes","obsolete":false,"parents":["HP:0000499"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased length of eyelashes"},{"scope":"EXACT","text":"Short eyelashes"}]} +{"alt_ids":[],"definition":"Abnormal thickening of the skin localized to the palm of the hand.","id":"HP:0010765","name":"Palmar hyperkeratosis","obsolete":false,"parents":["HP:0000962","HP:0040211"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deposition of calcium salts in a tissue or location in which calcification does not normally occur.","id":"HP:0010766","name":"Ectopic calcification","obsolete":false,"parents":["HP:0000924"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds.","id":"HP:0010767","name":"Sacrococcygeal pilonidal abnormality","obsolete":false,"parents":["HP:0005107"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0010768"],"definition":"A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris.","id":"HP:0010769","name":"Pilonidal sinus","obsolete":false,"parents":["HP:0010767"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pilonidal cyst"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010770","name":"Pilonidal fistula","obsolete":false,"parents":["HP:0010767"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A hair-containing cyst or sinus usually in the coccygeal region.","id":"HP:0010771","name":"Pilonidal abscess","obsolete":false,"parents":["HP:0010767","HP:0031292"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sacrococcygeal fistula"}]} +{"alt_ids":[],"definition":"A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood.","id":"HP:0010772","name":"Anomalous pulmonary venous return","obsolete":false,"parents":["HP:0030968"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung.","id":"HP:0010773","name":"Partial anomalous pulmonary venous return","obsolete":false,"parents":["HP:0010772"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"PAPVC"},{"scope":"EXACT","text":"PAPVD"},{"scope":"EXACT","text":"PAPVR"},{"scope":"EXACT","text":"Partial anomalous pulmonary venous connection"},{"scope":"EXACT","text":"Partial anomalous pulmonary venous drainage"}]} +{"alt_ids":[],"definition":"The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name).","id":"HP:0010774","name":"Cor triatriatum","obsolete":false,"parents":["HP:0005120"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triatrial heart"}]} +{"alt_ids":[],"definition":"A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails.","id":"HP:0010775","name":"Vascular ring","obsolete":false,"parents":["HP:0011587"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vascular ring of aorta"}]} +{"alt_ids":[],"definition":"Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection.","id":"HP:0010776","name":"Tracheobronchmegaly","obsolete":false,"parents":["HP:0010777","HP:0010778"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection.","id":"HP:0010777","name":"Bronchomegaly","obsolete":false,"parents":["HP:0025426"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Marked widening of the trachea.","id":"HP:0010778","name":"Tracheomegaly","obsolete":false,"parents":["HP:0002778"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of an abnormally large pelvis.","id":"HP:0010779","name":"Large pelvis bone","obsolete":false,"parents":["HP:0040163"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Large pelvis"},{"scope":"EXACT","text":"Large pelvis bone"}]} +{"alt_ids":[],"definition":"Over-sensitivity to certain frequency ranges of sound.","id":"HP:0010780","name":"Hyperacusis","obsolete":false,"parents":["HP:5200060"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation.","id":"HP:0010781","name":"Skin dimple","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Skin dimples"}]} +{"alt_ids":[],"definition":"A subtype of skin dimples occurring in the shoulder region.","id":"HP:0010782","name":"Shoulder dimple","obsolete":false,"parents":["HP:0010781"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acromial dimple"},{"scope":"EXACT","text":"Bi-acromial dimples"},{"scope":"EXACT","text":"Shoulder dimples"}]} +{"alt_ids":[],"definition":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","id":"HP:0010783","name":"Erythema","obsolete":false,"parents":["HP:0011276"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Redness of skin or mucous membrane"}]} +{"alt_ids":[],"definition":"A tumor (abnormal growth of tissue) of the uterus.","id":"HP:0010784","name":"Uterine neoplasm","obsolete":false,"parents":["HP:0031105","HP:0033020"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Uterine cancer"},{"scope":"RELATED","text":"Uterine neoplasia"},{"scope":"EXACT","text":"Uterine tumor"},{"scope":"EXACT","text":"Uterine tumour"}]} +{"alt_ids":[],"definition":"A tumor (abnormal growth of tissue) of a gonad.","id":"HP:0010785","name":"Gonadal neoplasm","obsolete":false,"parents":["HP:0010787"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gonadal neoplasia"}]} +{"alt_ids":[],"definition":"The presence of a neoplasm of the urinary system.","id":"HP:0010786","name":"Urinary tract neoplasm","obsolete":false,"parents":["HP:0007379"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Urinary tract neoplasia"}]} +{"alt_ids":[],"definition":"A tumor (abnormal growth of tissue) of the genital system.","id":"HP:0010787","name":"Genital neoplasm","obsolete":false,"parents":["HP:0000078","HP:0007379"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Genital neoplasia"},{"scope":"EXACT","text":"Genital tumor"},{"scope":"EXACT","text":"Genital tumour"}]} +{"alt_ids":[],"definition":"The presence of a neoplasm of the testis.","id":"HP:0010788","name":"Testicular neoplasm","obsolete":false,"parents":["HP:0000035","HP:0010785","HP:0100848"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Testicular cancer"},{"scope":"RELATED","text":"Testicular neoplasia"},{"scope":"EXACT","text":"Testicular tumor"},{"scope":"EXACT","text":"Testicular tumour"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010789","name":"Abnormality of the Leydig cells","obsolete":false,"parents":["HP:0000035"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.","id":"HP:0010790","name":"Hypoplasia of the Leydig cells","obsolete":false,"parents":["HP:0010789"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.","id":"HP:0010791","name":"Hyperplasia of the Leydig cells","obsolete":false,"parents":["HP:0010789"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A digit with two nails, with at least some soft tissue between them.","id":"HP:0010793","name":"Bifid nail","obsolete":false,"parents":["HP:0002164"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Notched nail"},{"scope":"EXACT","text":"duplicated nail"}]} +{"alt_ids":[],"definition":"Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities).","id":"HP:0010794","name":"Impaired visuospatial constructive cognition","obsolete":false,"parents":["HP:0001328"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A glioma affecting the cerebellum.","id":"HP:0010795","name":"Cerebellar glioma","obsolete":false,"parents":["HP:0009733"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A glioma affecting the brainstem.","id":"HP:0010796","name":"Brainstem glioma","obsolete":false,"parents":["HP:0009733"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter.","id":"HP:0010797","name":"Hemangioblastoma","obsolete":false,"parents":["HP:0100835"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Haemangioblastoma"}]} +{"alt_ids":[],"definition":"Increased focal pigmentation of the vermilion of the lips.","id":"HP:0010798","name":"Lip freckle","obsolete":false,"parents":["HP:0000159"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ephelis of lip"},{"scope":"EXACT","text":"Labial lentigo"},{"scope":"EXACT","text":"Lip freckle"},{"scope":"EXACT","text":"Lip lentigo"}]} +{"alt_ids":[],"definition":"A neoplasm of the pineal gland.","id":"HP:0010799","name":"Pinealoma","obsolete":false,"parents":["HP:0030063","HP:0030693"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lack of paramedian peaks and median notch of the upper lip vermilion.","id":"HP:0010800","name":"Absent cupid's bow","obsolete":false,"parents":["HP:0011339"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent cupid's bow"},{"scope":"EXACT","text":"Agenesis of cupid's bow"},{"scope":"RELATED","text":"Aplasia of cupid's bow"},{"scope":"EXACT","text":"Failure of development of cupid's bow"},{"scope":"EXACT","text":"Lack of cupid's bow"},{"scope":"EXACT","text":"Missing cupid's bow"}]} +{"alt_ids":[],"definition":"Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure).","id":"HP:0010801","name":"Underdeveloped nasolabial fold","obsolete":false,"parents":["HP:0005289"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flat nasolabial fold"},{"scope":"EXACT","text":"Nasolabial crease, hypoplastic"},{"scope":"EXACT","text":"Nasolabial crease, underdeveloped"},{"scope":"EXACT","text":"Nasolabial fold, hypoplastic"},{"scope":"EXACT","text":"Shallow nasolabial fold"}]} +{"alt_ids":[],"definition":"Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips.","id":"HP:0010802","name":"Perioral hyperpigmentation","obsolete":false,"parents":["HP:0001000"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Darkening of skin around the mouth"},{"scope":"EXACT","text":"Increased pigmentation around the mouth"}]} +{"alt_ids":[],"definition":"Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip.","id":"HP:0010803","name":"Everted upper lip vermilion","obsolete":false,"parents":["HP:0011339","HP:0012472"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Drooping upper lip"},{"scope":"EXACT","text":"Eclabium of upper lip"},{"scope":"EXACT","text":"Everted prominent upper lip"},{"scope":"EXACT","text":"Everted upper lip"},{"scope":"EXACT","text":"Outward turned upper lip"},{"scope":"RELATED","text":"Protruding upper lip"}]} +{"alt_ids":["HP:0100895"],"definition":"Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.","id":"HP:0010804","name":"Tented upper lip vermilion","obsolete":false,"parents":["HP:0011339"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inverted V-shaped upper lip"},{"scope":"RELATED","text":"Tented mouth"},{"scope":"RELATED","text":"Tented upper lip"}]} +{"alt_ids":[],"definition":"Oral commissures positioned superior to the midline labial fissure.","id":"HP:0010805","name":"Upturned corners of mouth","obsolete":false,"parents":["HP:0011338"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Upturned corners of mouth"},{"scope":"EXACT","text":"Upturned mouth"},{"scope":"EXACT","text":"Upturned oral commisures"}]} +{"alt_ids":["HP:0000186"],"definition":"Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures.","id":"HP:0010806","name":"U-Shaped upper lip vermilion","obsolete":false,"parents":["HP:0011339"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Carp-like mouth"},{"scope":"EXACT","text":"Carp-shaped mouth"},{"scope":"EXACT","text":"Fish mouth"},{"scope":"EXACT","text":"Large, carp-shaped mouth"},{"scope":"EXACT","text":"Wide, carp-shaped mouth"}]} +{"alt_ids":[],"definition":"Visible space between the dental arches in occlusion.","id":"HP:0010807","name":"Open bite","obsolete":false,"parents":["HP:0000692"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of overlap of upper and lower teeth"},{"scope":"EXACT","text":"Open bite"},{"scope":"EXACT","text":"Open bite between upper and lower teeth"}]} +{"alt_ids":[],"definition":"Tongue extending beyond the alveolar ridges or teeth at rest.","id":"HP:0010808","name":"Protruding tongue","obsolete":false,"parents":["HP:0030809"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lingual prolapse"},{"scope":"EXACT","text":"Lingual prominence"},{"scope":"EXACT","text":"Lingual protrusion"},{"scope":"EXACT","text":"Prolapse of tongue"},{"scope":"EXACT","text":"Prominent tongue"},{"scope":"EXACT","text":"Protruding tongue"},{"scope":"EXACT","text":"Tongue protrusion"},{"scope":"EXACT","text":"Tongue sticking out of mouth"}]} +{"alt_ids":[],"definition":"Increased width of the uvula (subjective finding).","id":"HP:0010809","name":"Broad uvula","obsolete":false,"parents":["HP:0000172"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide uvula"}]} +{"alt_ids":[],"definition":"Increased length of the uvula.","id":"HP:0010810","name":"Long uvula","obsolete":false,"parents":["HP:0000172"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Elongated uvula"},{"scope":"BROAD","text":"Hyperplasia of uvula"},{"scope":"EXACT","text":"Long palatine uvula"}]} +{"alt_ids":[],"definition":"Decreased width of the uvula.","id":"HP:0010811","name":"Narrow uvula","obsolete":false,"parents":["HP:0000172"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrow palatine uvula"},{"scope":"RELATED","text":"Thin uvula"}]} +{"alt_ids":[],"definition":"Decreased length of the uvula.","id":"HP:0010812","name":"Short uvula","obsolete":false,"parents":["HP:0010293"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Blunt uvula"},{"scope":"EXACT","text":"Hypoplastic uvula"},{"scope":"EXACT","text":"Short palatine uvula"}]} +{"alt_ids":[],"definition":"More than two clockwise hair whorls.","id":"HP:0010813","name":"Abnormal number of hair whorls","obsolete":false,"parents":["HP:0010721"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal number of hair swirls"},{"scope":"EXACT","text":"Abnormal number of hair whorls"},{"scope":"EXACT","text":"Double crown (hair whorls)"},{"scope":"EXACT","text":"Extra hair swirls"},{"scope":"EXACT","text":"Extra hair whorl"},{"scope":"EXACT","text":"Supernumary hair swirls"},{"scope":"EXACT","text":"Supernumary hair whorl"}]} +{"alt_ids":[],"definition":"Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull.","id":"HP:0010814","name":"Abnormal position of hair whorl","obsolete":false,"parents":["HP:0010721"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal location of hair swirl"},{"scope":"EXACT","text":"Abnormal position of hair whorl"}]} +{"alt_ids":[],"definition":"A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly.","id":"HP:0010815","name":"Nevus sebaceous","obsolete":false,"parents":["HP:0010816"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Naevus sebaceous"},{"scope":"EXACT","text":"Organoid nevus"},{"scope":"EXACT","text":"Sebaceous mole"},{"scope":"EXACT","text":"Sebaceous naevus"},{"scope":"EXACT","text":"Sebaceous nevus"}]} +{"alt_ids":[],"definition":"Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood.","id":"HP:0010816","name":"Epidermal nevus","obsolete":false,"parents":["HP:0003764"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Epidermal nevi"}]} +{"alt_ids":[],"definition":"A type of nevus sebaceous with a linear form, raised borders and yellowish color.","id":"HP:0010817","name":"Linear nevus sebaceous","obsolete":false,"parents":["HP:0010815"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002184"],"definition":"A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.","id":"HP:0010818","name":"Generalized tonic seizure","obsolete":false,"parents":["HP:0032677","HP:0032792"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised hypertonic seizure"},{"scope":"EXACT","text":"Generalised tonic seizure"},{"scope":"EXACT","text":"Generalised tonic seizures"},{"scope":"EXACT","text":"Generalized hypertonic seizure"},{"scope":"EXACT","text":"Generalized tonic seizures"},{"scope":"RELATED","text":"Hypertonic seizures"}]} +{"alt_ids":["HP:0002124"],"definition":"Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.","id":"HP:0010819","name":"Atonic seizure","obsolete":false,"parents":["HP:0020219"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Astatic seizure"},{"scope":"EXACT","text":"Astatic seizures"},{"scope":"EXACT","text":"Atonic seizures"},{"scope":"EXACT","text":"Drop attacks"},{"scope":"EXACT","text":"Drop seizures"},{"scope":"EXACT","text":"Hypotonic seizure"},{"scope":"RELATED","text":"Hypotonic seizures"},{"scope":"RELATED","text":"Sudden loss of muscle tone"}]} +{"alt_ids":[],"definition":"Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present.","id":"HP:0010820","name":"Focal emotional seizure with crying","obsolete":false,"parents":["HP:0025613"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dacrystic seizure"},{"scope":"EXACT","text":"Dacrystic seizures"}]} +{"alt_ids":[],"definition":"Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'.","id":"HP:0010821","name":"Focal emotional seizure with laughing","obsolete":false,"parents":["HP:0025613"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gelastic seizure"},{"scope":"EXACT","text":"Gelastic seizures"}]} +{"alt_ids":[],"definition":"A scintillating scotoma is a common visual aura that can precede a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights.","id":"HP:0010822","name":"Scintillating scotoma","obsolete":false,"parents":["HP:0000575"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An overlap of the bony plates of the skull in an infant, with or without early closure.","id":"HP:0010823","name":"Ridged cranial sutures","obsolete":false,"parents":["HP:0011329"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cranial suture ridges"}]} +{"alt_ids":[],"definition":"Any structural abnormality of the fifth cranial nerve.","id":"HP:0010824","name":"Abnormal fifth cranial nerve morphology","obsolete":false,"parents":["HP:0001291"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal trigeminal nerve morphology"},{"scope":"EXACT","text":"Abnormality of the fifth cranial nerve"},{"scope":"EXACT","text":"Abnormality of the nervus trigeminus"}]} +{"alt_ids":[],"definition":"Abnormality of the eleventh cranial nerve.","id":"HP:0010825","name":"Abnormality of the eleventh cranial nerve","obsolete":false,"parents":["HP:0001291"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of cranial nerve XI"},{"scope":"EXACT","text":"Abnormality of the accessory nerve"}]} +{"alt_ids":[],"definition":"Abnormality of the twelfth cranial nerve.","id":"HP:0010826","name":"Abnormality of the twelfth cranial nerve","obsolete":false,"parents":["HP:3000075"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of cranial nerve 12"},{"scope":"EXACT","text":"Abnormality of cranial nerve xii"},{"scope":"EXACT","text":"Abnormality of the hypoglossal nerve"}]} +{"alt_ids":[],"definition":"Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve.","id":"HP:0010827","name":"Abnormal seventh cranial physiology","obsolete":false,"parents":["HP:0031910"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the facial nerve"}]} +{"alt_ids":[],"definition":"Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions.","id":"HP:0010828","name":"Hemifacial spasm","obsolete":false,"parents":["HP:0003739"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Hemifacial spasms"},{"scope":"EXACT","text":"Spasms on one side of the face"}]} +{"alt_ids":["HP:0006901","HP:0100772"],"definition":"A reduced ability to discriminate between different temperatures.","id":"HP:0010829","name":"Impaired temperature sensation","obsolete":false,"parents":["HP:0033748"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of temperature sensation"},{"scope":"EXACT","text":"Impaired temperature sensation"},{"scope":"EXACT","text":"Impaired thermal sensitivity"},{"scope":"EXACT","text":"Loss of temperature sensation"}]} +{"alt_ids":[],"definition":"A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.","id":"HP:0010830","name":"Impaired tactile sensation","obsolete":false,"parents":["HP:0033748"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal thigmesthesia"},{"scope":"EXACT","text":"Impaired touch sensation"},{"scope":"EXACT","text":"Loss of tactile sensation"}]} +{"alt_ids":["HP:0010870"],"definition":"A loss or impairment of the sensation of the relative position of parts of the body and joint position.","id":"HP:0010831","name":"Impaired proprioception","obsolete":false,"parents":["HP:0003474"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of proprioception"}]} +{"alt_ids":[],"definition":"Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain.","id":"HP:0010832","name":"Abnormality of pain sensation","obsolete":false,"parents":["HP:0033747"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger.","id":"HP:0010833","name":"Spontaneous pain sensation","obsolete":false,"parents":["HP:0010832"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails.","id":"HP:0010834","name":"Trophic changes related to pain","obsolete":false,"parents":["HP:0010832"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Trophic changes"}]} +{"alt_ids":[],"definition":"A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa.","id":"HP:0010835","name":"Dissociated sensory loss","obsolete":false,"parents":["HP:0003474"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of copper cation in the blood circulation.","id":"HP:0010836","name":"Abnormal circulating copper concentration","obsolete":false,"parents":["HP:0011030"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal copper cation level"},{"scope":"RELATED","text":"Abnormal copper levels"}]} +{"alt_ids":[],"definition":"The concentration of ceruloplasmin in the blood circulation is below the lower limit of normal.","id":"HP:0010837","name":"Decreased circulating ceruloplasmin concentration","obsolete":false,"parents":["HP:0033144"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased ceruloplasmin concentration"},{"scope":"EXACT","text":"Decreased ceruloplasmin level"},{"scope":"EXACT","text":"Decreased ceruloplasmin level in blood"},{"scope":"EXACT","text":"Decreased serum ceruloplasmin"},{"scope":"EXACT","text":"Decreased serum ceruloplasminA"},{"scope":"EXACT","text":"Hypoceruloplasminaemia"},{"scope":"EXACT","text":"Hypoceruloplasminemia"},{"scope":"EXACT","text":"Reduced ceruloplasmin concentration"},{"scope":"EXACT","text":"Reduced ceruloplasmin level"},{"scope":"EXACT","text":"Reduced ceruloplasmin level in blood"}]} +{"alt_ids":[],"definition":"An increased concentration of non ceruloplasmin bound copper in the blood.","id":"HP:0010838","name":"High nonceruloplasmin-bound serum copper","obsolete":false,"parents":["HP:0010836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of copper in the urine.","id":"HP:0010839","name":"Increased urinary copper concentration","obsolete":false,"parents":["HP:0045036"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased urinary copper concentration"}]} +{"alt_ids":[],"definition":"An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci).","id":"HP:0010841","name":"Multifocal epileptiform discharges","obsolete":false,"parents":["HP:0011185"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multifocal EEG abnormality"}]} +{"alt_ids":[],"definition":"Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy).","id":"HP:0010843","name":"EEG with focal slow activity","obsolete":false,"parents":["HP:0011203"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EEG: focal slow activity"},{"scope":"EXACT","text":"EEG: localised slow activity"},{"scope":"EXACT","text":"EEG: localized slow activity"}]} +{"alt_ids":[],"definition":"Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).","id":"HP:0010844","name":"EEG with multifocal slow activity","obsolete":false,"parents":["HP:0011203"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).","id":"HP:0010845","name":"EEG with generalized slow activity","obsolete":false,"parents":["HP:0011203"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EEG with generalised slow activity"},{"scope":"EXACT","text":"EEG: generalised slow activity"},{"scope":"EXACT","text":"EEG: generalized slow activity"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010846","name":"EEG with persistent abnormal rhythmic activity","obsolete":false,"parents":["HP:0011176"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EEG: persistent abnormal rhythmic activity"}]} +{"alt_ids":[],"definition":"The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG).","id":"HP:0010847","name":"EEG with spike-wave complexes (<2.5 Hz)","obsolete":false,"parents":["HP:0010850"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Electroencephalogram demonstrated spike-slow wave discharges"}]} +{"alt_ids":[],"definition":"The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG).","id":"HP:0010848","name":"EEG with spike-wave complexes (2.5-3.5 Hz)","obsolete":false,"parents":["HP:0010850"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007261"],"definition":"The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG).","id":"HP:0010849","name":"EEG with spike-wave complexes (>3.5 Hz)","obsolete":false,"parents":["HP:0010850"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"EEG with 3-4-Hz spike waves"}]} +{"alt_ids":[],"definition":"Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).","id":"HP:0010850","name":"EEG with spike-wave complexes","obsolete":false,"parents":["HP:0011198"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.","id":"HP:0010851","name":"EEG with burst suppression","obsolete":false,"parents":["HP:0011198"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001330"],"definition":"EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns.","id":"HP:0010852","name":"EEG with photoparoxysmal response","obsolete":false,"parents":["HP:0002353"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Photoparoxysmal response on EEG"}]} +{"alt_ids":[],"definition":"Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds).","id":"HP:0010853","name":"EEG with periodic lateralized epileptiform discharges","obsolete":false,"parents":["HP:0011186"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EEG: periodic lateralized epileptiform discharges"}]} +{"alt_ids":[],"definition":"An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).","id":"HP:0010854","name":"EEG with generalized low amplitude activity","obsolete":false,"parents":["HP:0011201"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EEG with generalised low amplitude activity"},{"scope":"EXACT","text":"EEG: generalised low amplitude activity"},{"scope":"EXACT","text":"EEG: generalized low amplitude activity"}]} +{"alt_ids":[],"definition":"An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).","id":"HP:0010855","name":"EEG with localized low amplitude activity","obsolete":false,"parents":["HP:0011201"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EEG with localised low amplitude activity"},{"scope":"EXACT","text":"EEG: localised low amplitude activity"},{"scope":"EXACT","text":"EEG: localized low amplitude activity"}]} +{"alt_ids":[],"definition":"Periodically occurring generalized periodic complexes.","id":"HP:0010856","name":"EEG with periodic complexes","obsolete":false,"parents":["HP:0010857"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EEG: periodic complexes"},{"scope":"EXACT","text":"Radermecker complexes"}]} +{"alt_ids":[],"definition":"Periodically recurring abnormalities in the EEG.","id":"HP:0010857","name":"EEG with periodic abnormalities","obsolete":false,"parents":["HP:0011200"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EEG: periodic abnormalities"}]} +{"alt_ids":[],"definition":"Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).","id":"HP:0010858","name":"EEG with hyperventilation-induced epileptiform discharges","obsolete":false,"parents":["HP:0011182"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A kind of breech presentation in which the hips are flexed and the knees are extended.","id":"HP:0010859","name":"Frank breech presentation","obsolete":false,"parents":["HP:0001623"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A kind of breech presentation in which the hips are flexed and the knees are flexed.","id":"HP:0010860","name":"Complete breech presentation","obsolete":false,"parents":["HP:0001623"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal.","id":"HP:0010861","name":"Incomplete breech presentation","obsolete":false,"parents":["HP:0001623"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.","id":"HP:0010862","name":"Delayed fine motor development","obsolete":false,"parents":["HP:0001270"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A delay in the acquisition of the ability to understand the speech of others.","id":"HP:0010863","name":"Receptive language delay","obsolete":false,"parents":["HP:0000750"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007196"],"definition":"Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34.","id":"HP:0010864","name":"Severe intellectual disability","obsolete":false,"parents":["HP:0001249"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Early and severe mental retardation"},{"scope":"EXACT","text":"Intellectual disability, severe"},{"scope":"EXACT","text":"Mental retardation, severe"},{"scope":"EXACT","text":"Severe mental retardation"}]} +{"alt_ids":[],"definition":"A pervasive and characteristic pattern of arguing, defiance, and hostility toward others, particularly authority figures, that goes beyond the occasional oppositionality seen as a normal behavior in individuals at a certain age, e.g., during child and adolescent development.","id":"HP:0010865","name":"Age-inappropriate oppositional behavior","obsolete":false,"parents":["HP:0000718"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Developmentally inappropriate oppositional behavior"},{"scope":"EXACT","text":"Excessive oppositional behavior"},{"scope":"RELATED","text":"ODD"},{"scope":"RELATED","text":"Oppositional defiant disorder"}]} +{"alt_ids":[],"definition":"An incomplete closure of the abdominal wall.","id":"HP:0010866","name":"Abdominal wall defect","obsolete":false,"parents":["HP:0004298"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abdominal wall defect"},{"scope":"EXACT","text":"Congenital anterior abdominal wall defect"}]} +{"alt_ids":[],"definition":"A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts.","id":"HP:0010867","name":"Dyssynergia","obsolete":false,"parents":["HP:0001251"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field.","id":"HP:0010868","name":"Ocular dyssynergia","obsolete":false,"parents":["HP:0010867"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed.","id":"HP:0010869","name":"Asynergia","obsolete":false,"parents":["HP:0010867"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms.","id":"HP:0010871","name":"Sensory ataxia","obsolete":false,"parents":["HP:0010831"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Afferent ataxia"},{"scope":"EXACT","text":"Ataxia, sensory"},{"scope":"EXACT","text":"Spinal ataxia"}]} +{"alt_ids":[],"definition":"An inversion of the T-wave (which is normally positive).","id":"HP:0010872","name":"T-wave inversion","obsolete":false,"parents":["HP:0005135"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EKG: T-wave inversion"}]} +{"alt_ids":[],"definition":"Atrophy of the cervical segment of the spinal cord.","id":"HP:0010873","name":"Cervical spinal cord atrophy","obsolete":false,"parents":["HP:0006827"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).","id":"HP:0010874","name":"Tendon xanthomatosis","obsolete":false,"parents":["HP:0000991","HP:0100261"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tendon xanthomas"}]} +{"alt_ids":[],"definition":"A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract.","id":"HP:0010875","name":"Chaddock reflex","obsolete":false,"parents":["HP:0007256"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal level of a circulating protein in the blood.","id":"HP:0010876","name":"Abnormal circulating protein concentration","obsolete":false,"parents":["HP:0430071"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal circulating protein level"},{"scope":"EXACT","text":"Abnormality of circulating protein level"},{"scope":"RELATED","text":"Blood protein disease"},{"scope":"RELATED","text":"Serum protein abnormality"}]} +{"alt_ids":[],"definition":"A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times.","id":"HP:0010877","name":"Monocular strabismus","obsolete":false,"parents":["HP:0000486"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unilateral strabismus"}]} +{"alt_ids":[],"definition":"The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. Increased NT refers to a measurement above the 95th centile, and the term is used irrespective of whether the collection of fluid is septated or not, and whether it is confined to the neck or envelopes the whole fetus. After 14 weeks, increased NT usually resolves, but in some cases it evolves into nuchal edema or cystic hygromas.","id":"HP:0010878","name":"Fetal cystic hygroma","obsolete":false,"parents":["HP:0000476","HP:0025667"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foetal cystic hygroma"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010879","name":"Postnatal cystic hygroma","obsolete":false,"parents":["HP:0000476"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy).","id":"HP:0010880","name":"Increased nuchal translucency","obsolete":false,"parents":["HP:0000969","HP:0025667"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta.","id":"HP:0010881","name":"Abnormality of the umbilical cord","obsolete":false,"parents":["HP:0001194"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Umbilical cord issue"}]} +{"alt_ids":[],"definition":"A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop.","id":"HP:0010882","name":"Pulmonary valve atresia","obsolete":false,"parents":["HP:0001641"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital disorder of the aortic valve in which the orifice of the valve fails to develop.","id":"HP:0010883","name":"Aortic valve atresia","obsolete":false,"parents":["HP:0001646"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aortic atresia"}]} +{"alt_ids":[],"definition":"Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs.","id":"HP:0010884","name":"Acromelia","obsolete":false,"parents":["HP:0009815"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.","id":"HP:0010885","name":"Avascular necrosis","obsolete":false,"parents":["HP:0011843"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aseptic bone necrosis"},{"scope":"EXACT","text":"Aseptic necrosis"},{"scope":"EXACT","text":"Bone infarction"},{"scope":"EXACT","text":"Death of bone due to decreased blood supply"},{"scope":"EXACT","text":"Ischaemic bone necrosis"},{"scope":"EXACT","text":"Ischemic bone necrosis"},{"scope":"EXACT","text":"Osteochondronecrosis"},{"scope":"EXACT","text":"Osteonecrosis"}]} +{"alt_ids":[],"definition":"A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage.","id":"HP:0010886","name":"Osteochondritis dissecans","obsolete":false,"parents":["HP:0040188"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Osteochondrosis dissecans"}]} +{"alt_ids":[],"definition":"Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis.","id":"HP:0010888","name":"Morbus Koehler","obsolete":false,"parents":["HP:0100323","HP:0100339"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum.","id":"HP:0010889","name":"Morbus Kienboeck","obsolete":false,"parents":["HP:0004248","HP:0100323"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Kienboeck's disease"},{"scope":"EXACT","text":"Kienböck's disease"},{"scope":"EXACT","text":"Lunatomalacia"}]} +{"alt_ids":[],"definition":"Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae.","id":"HP:0010890","name":"Morbus Osgood-Schlatter","obsolete":false,"parents":["HP:0002992","HP:0100323"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Osgood Schlatter disease"}]} +{"alt_ids":[],"definition":"A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays).","id":"HP:0010891","name":"Morbus Scheuermann","obsolete":false,"parents":["HP:0003468","HP:0100323"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Calve disease"},{"scope":"EXACT","text":"Juvenile osteochondrosis of the spine"},{"scope":"EXACT","text":"Scheuermann disease"},{"scope":"EXACT","text":"Scheuermann kyphosis"},{"scope":"EXACT","text":"Sherman's Disease"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of branched-chain amino acid in the blood circulation.","id":"HP:0010892","name":"Abnormal circulating branched-chain amino acid concentration","obsolete":false,"parents":["HP:0033107"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal branched-chain amino acid level"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of phenylalanine in the blood circulation.","id":"HP:0010893","name":"Abnormal circulating phenylalanine concentration","obsolete":false,"parents":["HP:0004338"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal phenylalanine level"},{"scope":"EXACT","text":"Abnormality of phenylalanine metabolism"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of serine family amino acid in the blood circulation.","id":"HP:0010894","name":"Abnormal circulating serine family amino acid concentration","obsolete":false,"parents":["HP:0033107"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal serine family amino acid level"},{"scope":"EXACT","text":"Abnormality of serine family amino acid metabolism"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of glycine in the blood circulation.","id":"HP:0010895","name":"Abnormal circulating glycine concentration","obsolete":false,"parents":["HP:0010894"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevated plasma concentration of sarcosine.","id":"HP:0010896","name":"Hypersarcosinemia","obsolete":false,"parents":["HP:0010898"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High plasma sarcosine levels"}]} +{"alt_ids":[],"definition":"An elevated urinary concentration of sarcosine.","id":"HP:0010897","name":"Hypersarcosinuria","obsolete":false,"parents":["HP:0033100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High urine sarcosine levels"}]} +{"alt_ids":[],"definition":"An deviation from the normal concentration of sarcosine in the blood circulation.","id":"HP:0010898","name":"Abnormal circulating sarcosine concentration","obsolete":false,"parents":["HP:0010894"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of aspartate family amino acid in the blood circulation.","id":"HP:0010899","name":"Abnormal circulating aspartate family amino acid concentration","obsolete":false,"parents":["HP:0033107"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal aspartate family amino acid level"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of threonine in the blood circulation.","id":"HP:0010900","name":"Abnormal circulating threonine concentration","obsolete":false,"parents":["HP:0010899"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal threonine level"},{"scope":"EXACT","text":"Abnormality of threonine metabolism"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of methionine in the blood circulation.","id":"HP:0010901","name":"Abnormal circulating methionine concentration","obsolete":false,"parents":["HP:0004339","HP:0010899"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of methionine metabolism"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of glutamine family amino acid in the blood circulation.","id":"HP:0010902","name":"Abnormal circulating glutamine family amino acid concentration","obsolete":false,"parents":["HP:0033107"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal glutamine family amino acid level"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of glutamine in the blood circulation.","id":"HP:0010903","name":"Abnormal circulating glutamine concentration","obsolete":false,"parents":["HP:0010902"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal glutamine level"}]} +{"alt_ids":["HP:0010905"],"definition":"Any deviation from the normal concentration of histidine in the blood circulation.","id":"HP:0010904","name":"Abnormal circulating histidine concentration","obsolete":false,"parents":["HP:0004338"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal histidine level"},{"scope":"EXACT","text":"Abnormality of histidine metabolism"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010905","name":"obsolete Abnormality of histidine metabolism","obsolete":true,"parents":[],"replaced_by":["HP:0010904"],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of histidine in the blood circulation is above the upper limit of normal.","id":"HP:0010906","name":"Hyperhistidinemia","obsolete":false,"parents":["HP:0010904"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated histidine concentration"},{"scope":"EXACT","text":"Elevated histidine level"},{"scope":"EXACT","text":"Elevated histidine level in blood"},{"scope":"EXACT","text":"High blood histidine level"},{"scope":"RELATED","text":"Histidinemia"},{"scope":"EXACT","text":"Increased histidine concentration"},{"scope":"EXACT","text":"Increased histidine level"},{"scope":"EXACT","text":"Increased histidine level in blood"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of proline in the blood circulation.","id":"HP:0010907","name":"Abnormal circulating proline concentration","obsolete":false,"parents":["HP:0010902"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal proline level"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of lysine in the blood circulation.","id":"HP:0010908","name":"Abnormal circulating lysine concentration","obsolete":false,"parents":["HP:0010899"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal lysine level"},{"scope":"EXACT","text":"Abnormality of lysine metabolism"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of arginine in the blood circulation.","id":"HP:0010909","name":"Abnormal circulating arginine concentration","obsolete":false,"parents":["HP:0010902"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal arginine level"},{"scope":"EXACT","text":"Abnormality of arginine metabolism"}]} +{"alt_ids":[],"definition":"The concentration of valine in the blood circulation is above the upper limit of normal.","id":"HP:0010910","name":"Hypervalinemia","obsolete":false,"parents":["HP:0010914"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated valine concentration"},{"scope":"EXACT","text":"Elevated valine level"},{"scope":"EXACT","text":"Elevated valine level in blood"},{"scope":"EXACT","text":"High blood valine concentration"},{"scope":"EXACT","text":"Increased valine concentration"},{"scope":"EXACT","text":"Increased valine level"},{"scope":"EXACT","text":"Increased valine level in blood"}]} +{"alt_ids":[],"definition":"The concentration of leucine in the blood circulation is above the upper limit of normal.","id":"HP:0010911","name":"Hyperleucinemia","obsolete":false,"parents":["HP:0004357"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated leucine concentration"},{"scope":"EXACT","text":"Elevated leucine level"},{"scope":"EXACT","text":"Elevated leucine level in blood"},{"scope":"EXACT","text":"High blood leucine concentration"},{"scope":"EXACT","text":"Increased leucine concentration"},{"scope":"EXACT","text":"Increased leucine level"},{"scope":"EXACT","text":"Increased leucine level in blood"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of isoleucine in the blood circulation.","id":"HP:0010912","name":"Abnormal circulating isoleucine concentration","obsolete":false,"parents":["HP:0010892"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal isoleucine level"}]} +{"alt_ids":[],"definition":"The concentration of isoleucine in the blood circulation is above the upper limit of normal.","id":"HP:0010913","name":"Hyperisoleucinemia","obsolete":false,"parents":["HP:0010912"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated isoleucine concentration"},{"scope":"EXACT","text":"Elevated isoleucine level"},{"scope":"EXACT","text":"Elevated isoleucine level in blood"},{"scope":"EXACT","text":"High blood isoleucine concentration"},{"scope":"EXACT","text":"Increased isoleucine concentration"},{"scope":"EXACT","text":"Increased isoleucine level"},{"scope":"EXACT","text":"Increased isoleucine level in blood"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of valine in the blood circulation.","id":"HP:0010914","name":"Abnormal circulating valine concentration","obsolete":false,"parents":["HP:0010892"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal valine level"},{"scope":"EXACT","text":"Abnormality of valine metabolism"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of pyruvate family amino acid in the blood circulation.","id":"HP:0010915","name":"Abnormal circulating pyruvate family amino acid concentration","obsolete":false,"parents":["HP:0033107","HP:0033108"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal pyruvate family amino acid level"},{"scope":"EXACT","text":"Abnormality of pyruvate family amino acid metabolism"}]} +{"alt_ids":[],"definition":"An abnormality of an alanine metabolic process.","id":"HP:0010916","name":"Abnormal circulating alanine concentration","obsolete":false,"parents":["HP:0010915"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of alanine metabolism"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of tyrosine in the blood circulation.","id":"HP:0010917","name":"Abnormal circulating tyrosine concentration","obsolete":false,"parents":["HP:0004338"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal tyrosine level"}]} +{"alt_ids":[],"definition":"An abnormality of a cysteine metabolic process.","id":"HP:0010918","name":"Abnormal circulating cysteine concentration","obsolete":false,"parents":["HP:0004339"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of homocysteine in the blood circulation.","id":"HP:0010919","name":"Abnormal circulating homocysteine concentration","obsolete":false,"parents":["HP:0004339"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal homocysteine level"}]} +{"alt_ids":["HP:0007713"],"definition":"Zonular cataracts are defined to be cataracts that affect specific regions of the lens.","id":"HP:0010920","name":"Zonular cataract","obsolete":false,"parents":["HP:0000518"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form.","id":"HP:0010921","name":"Coralliform cataract","obsolete":false,"parents":["HP:0010920"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens.","id":"HP:0010922","name":"Membranous cataract","obsolete":false,"parents":["HP:0000518"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule.","id":"HP:0010923","name":"Anterior subcapsular cataract","obsolete":false,"parents":["HP:0000523"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A cataract that affects the posterior part of the cortex of the lens.","id":"HP:0010924","name":"Posterior cortical cataract","obsolete":false,"parents":["HP:0100019"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0010925","name":"Nuclear punctate cataract","obsolete":false,"parents":["HP:0007648","HP:0100018"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens.","id":"HP:0010926","name":"Aculeiform cataract","obsolete":false,"parents":["HP:0100018"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fasciculiform cataract"},{"scope":"EXACT","text":"Frosted cataract"},{"scope":"EXACT","text":"Needle-shaped cataract"}]} +{"alt_ids":[],"definition":"An abnormality of divalent inorganic cation homeostasis.","id":"HP:0010927","name":"Abnormal circulating inorganic divalent cation concentration","obsolete":false,"parents":["HP:0010929"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of divalent inorganic cation homeostasis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010928","name":"obsolete Increased urinary orotic acid concentration","obsolete":true,"parents":[],"replaced_by":["HP:0003218"],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of inorganic cation in the blood circulation.","id":"HP:0010929","name":"Abnormal circulating inorganic cation concentration","obsolete":false,"parents":["HP:0003111"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal blood cation concentration"},{"scope":"EXACT","text":"Abnormal inorganic cation level"},{"scope":"EXACT","text":"Abnormality of cation homeostasis"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of monovalent inorganic cation in the blood circulation.","id":"HP:0010930","name":"Abnormal circulating monovalent inorganic cation concentration","obsolete":false,"parents":["HP:0010929"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal blood monovalent inorganic cation concentration"},{"scope":"EXACT","text":"Abnormal monovalent inorganic cation level"},{"scope":"EXACT","text":"Abnormality of monovalent inorganic cation homeostasis"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of sodium in the blood circulation.","id":"HP:0010931","name":"Abnormal circulating sodium concentration","obsolete":false,"parents":["HP:0010930"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal blood Na+ levels"},{"scope":"EXACT","text":"Abnormal blood sodium concentration"},{"scope":"EXACT","text":"Abnormal circulating Na concentration"},{"scope":"EXACT","text":"Abnormal sodium(1+) level"},{"scope":"EXACT","text":"Abnormality of sodium homeostasis"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of nucleobase in the blood circulation.","id":"HP:0010932","name":"Abnormal circulating nucleobase concentration","obsolete":false,"parents":["HP:0004364"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal nucleobase level"},{"scope":"RELATED","text":"Abnormal nucleoside levels"}]} +{"alt_ids":[],"definition":"An increased level of xanthine in the blood circulation.","id":"HP:0010933","name":"Hyperxanthinemia","obsolete":false,"parents":["HP:0004368"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased circulating xanthine concentration"}]} +{"alt_ids":[],"definition":"An increased concentration of xanthine in the urine.","id":"HP:0010934","name":"Xanthinuria","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased urinary xanthine"}]} +{"alt_ids":[],"definition":"An abnormality of the upper urinary tract.","id":"HP:0010935","name":"Abnormality of the upper urinary tract","obsolete":false,"parents":["HP:0000079"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the upper urinary tract"}]} +{"alt_ids":[],"definition":"An abnormality of the lower urinary tract.","id":"HP:0010936","name":"Abnormality of the lower urinary tract","obsolete":false,"parents":["HP:0000079"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the nasal skeleton.","id":"HP:0010937","name":"Abnormal nasal skeleton morphology","obsolete":false,"parents":["HP:0005105","HP:0011842"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the nasal skeleton"},{"scope":"EXACT","text":"Anomaly of the nasal skeleton"},{"scope":"NARROW","text":"Deformity of the bones of the nose"},{"scope":"NARROW","text":"Deformity of the nasal skeleton"},{"scope":"NARROW","text":"Distortion of the bones of the nose"},{"scope":"NARROW","text":"Distortion of the nasal skeleton"},{"scope":"NARROW","text":"Malformation of the bones of the nose"},{"scope":"NARROW","text":"Malformation of the nasal skeleton"}]} +{"alt_ids":[],"definition":"An abnormality of the external nose.","id":"HP:0010938","name":"Abnormal external nose morphology","obsolete":false,"parents":["HP:0005105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the external nose"},{"scope":"EXACT","text":"Anomaly of the external nose"},{"scope":"NARROW","text":"Deformity of the external nose"},{"scope":"NARROW","text":"Malformation of the external nose"}]} +{"alt_ids":[],"definition":"An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone.","id":"HP:0010939","name":"Abnormal nasal bone morphology","obsolete":false,"parents":["HP:0010937"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the nasal bone"},{"scope":"EXACT","text":"Anomaly of the nasal bones"},{"scope":"NARROW","text":"Deformity of the nasal bones"},{"scope":"NARROW","text":"Malformation of the nasal bones"}]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the nasal bone.","id":"HP:0010940","name":"Aplasia/Hypoplasia of the nasal bone","obsolete":false,"parents":["HP:0010939"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the nasal bone.","id":"HP:0010941","name":"Aplasia of the nasal bone","obsolete":false,"parents":["HP:0010940"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Absence of the nasal bone"},{"scope":"NARROW","text":"Agenesis of the nasal bone"},{"scope":"EXACT","text":"Failure of development of the nasal bone"},{"scope":"EXACT","text":"Lack of development of the nasal bone"},{"scope":"NARROW","text":"Missing nasal bone"}]} +{"alt_ids":[],"definition":"A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart.","id":"HP:0010942","name":"Echogenic intracardiac focus","obsolete":false,"parents":["HP:0010948","HP:0011425"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone.","id":"HP:0010943","name":"Echogenic fetal bowel","obsolete":false,"parents":["HP:0011425","HP:0034207"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Echogenic bowel"},{"scope":"EXACT","text":"Echogenic foetal bowel"},{"scope":"EXACT","text":"Hyperechogenic fetal bowel"},{"scope":"EXACT","text":"Hyperechogenic foetal bowel"},{"scope":"EXACT","text":"Prenatal ultrasound: hyperechogenic bowel"}]} +{"alt_ids":[],"definition":"An abnormality of the renal pelvis.","id":"HP:0010944","name":"Abnormal renal pelvis morphology","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the renal pelvis"}]} +{"alt_ids":[],"definition":"Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement.","id":"HP:0010945","name":"Fetal pyelectasis","obsolete":false,"parents":["HP:0010944","HP:0011425","HP:0034242"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fetal renal pelvic dilatation"},{"scope":"EXACT","text":"Foetal pyelectasis"},{"scope":"EXACT","text":"Foetal renal pelvic dilatation"},{"scope":"EXACT","text":"Mild fetal hydronephrosis"},{"scope":"EXACT","text":"Mild foetal hydronephrosis"}]} +{"alt_ids":[],"definition":"The presence of dilatation of the renal pelvis.","id":"HP:0010946","name":"Dilatation of the renal pelvis","obsolete":false,"parents":["HP:0010944"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus.","id":"HP:0010947","name":"Abnormality of ductus venosus blood flow","obsolete":false,"parents":["HP:0034190"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural abnormality of the fetal circulation system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.","id":"HP:0010948","name":"Abnormal fetal cardiovascular morphology","obsolete":false,"parents":["HP:0030680","HP:0034058"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the fetal cardiovascular system"},{"scope":"EXACT","text":"Abnormality of the fetal circulation system"},{"scope":"EXACT","text":"Abnormality of the foetal cardiovascular system"},{"scope":"EXACT","text":"Abnormality of the foetal circulation system"}]} +{"alt_ids":[],"definition":"A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein.","id":"HP:0010949","name":"Abnormality of umbilical vein blood flow","obsolete":false,"parents":["HP:0025657"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the fourth ventricle.","id":"HP:0010950","name":"Abnormal fourth ventricle morphology","obsolete":false,"parents":["HP:0002118"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the fourth ventricle"}]} +{"alt_ids":[],"definition":"An abnormality of the third ventricle.","id":"HP:0010951","name":"Abnormal third ventricle morphology","obsolete":false,"parents":["HP:0002118"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the third ventricle"}]} +{"alt_ids":[],"definition":"A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637).","id":"HP:0010952","name":"Mild fetal ventriculomegaly","obsolete":false,"parents":["HP:0002119","HP:0011425","HP:0034206"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mild foetal ventriculomegaly"}]} +{"alt_ids":[],"definition":"A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed.","id":"HP:0010953","name":"Noncommunicating hydrocephalus","obsolete":false,"parents":["HP:0000238"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of the right ventricle.","id":"HP:0010954","name":"Hypoplastic right ventricle","obsolete":false,"parents":["HP:0001961","HP:0011723"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic right heart syndrome"},{"scope":"EXACT","text":"Underdeveloped right heart"}]} +{"alt_ids":[],"definition":"The presence of a dilated urinary bladder.","id":"HP:0010955","name":"Dilatation of the bladder","obsolete":false,"parents":["HP:0025487"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fetal megacystis is an abnormally enlarged bladder identified at any gestational age.","id":"HP:0010956","name":"Fetal megacystis","obsolete":false,"parents":["HP:0010955"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foetal megacystis"}]} +{"alt_ids":[],"definition":"A developmental defect resulting in an obstructing membrane in the posterior male urethra.","id":"HP:0010957","name":"Congenital posterior urethral valve","obsolete":false,"parents":["HP:0010481","HP:0034378"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"COPUM"},{"scope":"EXACT","text":"Congenital obstructing posterior urethral membranes"},{"scope":"EXACT","text":"Posterior urethral valve"},{"scope":"RELATED","text":"Posterior urethral valves"}]} +{"alt_ids":[],"definition":"A bilateral form of agenesis of the kidney.","id":"HP:0010958","name":"Bilateral renal agenesis","obsolete":false,"parents":["HP:0000104"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006540","HP:0006545"],"definition":"Congenital pulmonary airway malformation (CPAM) - previously known as congenital cystic adenomatoid malformation (CCAM) - is a relatively rare developmental malformation of the lower respiratory tract. It is a hamartomatous, dysplastic developmental abnormality of the lung characterized by abnormal airway patterning during lung branching morphogenesis and is formed by abnormal branching of the immature bronchioles.","id":"HP:0010959","name":"Congenital pulmonary airway malformation","obsolete":false,"parents":["HP:0005948","HP:0034243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CCAM"},{"scope":"EXACT","text":"Congenital cystic adenomatoid malformation"},{"scope":"EXACT","text":"Congenital cystic adenomatoid malformation of the lung"},{"scope":"EXACT","text":"Congenital cystic disease of the lung"},{"scope":"EXACT","text":"Cystic adenomatoid lung disease"}]} +{"alt_ids":[],"definition":null,"id":"HP:0010960","name":"obsolete Bronchopulmonary sequestration","obsolete":true,"parents":[],"replaced_by":["HP:0100632"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0010961","name":"obsolete Intralobar sequestration","obsolete":true,"parents":[],"replaced_by":["HP:0011278"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0010962","name":"obsolete Extralobar sequestration","obsolete":true,"parents":[],"replaced_by":["HP:0006544"],"synonyms":[]} +{"alt_ids":[],"definition":"By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation.","id":"HP:0010963","name":"Absence of stomach bubble on fetal sonography","obsolete":false,"parents":["HP:0011425","HP:0034207"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of stomach bubble on foetal sonography"},{"scope":"EXACT","text":"Absent stomach bubble"},{"scope":"EXACT","text":"Non-visualisation of the fetal stomach"},{"scope":"EXACT","text":"Non-visualisation of the foetal stomach"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation.","id":"HP:0010964","name":"Abnormal circulating long-chain fatty-acid concentration","obsolete":false,"parents":["HP:0004359"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of phytanic acid in the blood circulation.","id":"HP:0010965","name":"Abnormal circulating phytanic acid concentration","obsolete":false,"parents":["HP:0010964"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal circulating phytanic acid level"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of fatty acid anion in the blood circulation.","id":"HP:0010966","name":"Abnormal circulating fatty acid anion concentration","obsolete":false,"parents":["HP:0004359"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal fatty acid anion level"},{"scope":"EXACT","text":"Abnormality of fatty acid anion"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of carnitine in the blood circulation.","id":"HP:0010967","name":"Abnormal circulating carnitine concentration","obsolete":false,"parents":["HP:0010966"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal carnitine level"},{"scope":"RELATED","text":"Carnitine levels abnormal"}]} +{"alt_ids":[],"definition":"An abnormality of liposaccharide metabolism.","id":"HP:0010968","name":"Abnormality of liposaccharide metabolism","obsolete":false,"parents":["HP:0032243"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of glycolipid metabolism.","id":"HP:0010969","name":"Abnormality of glycolipid metabolism","obsolete":false,"parents":["HP:0032243"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of an erythrocyte cell surface molecule.","id":"HP:0010970","name":"Blood group antigen abnormality","obsolete":false,"parents":["HP:0001877"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells.","id":"HP:0010971","name":"Absence of Lutheran antigen on erythrocytes","obsolete":false,"parents":["HP:0010970"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005501","HP:0005504","HP:0005553"],"definition":"A kind of anemia characterized by inadequate production of erythrocytes.","id":"HP:0010972","name":"Anemia of inadequate production","obsolete":false,"parents":["HP:0001903"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anaemia of inadequate production"},{"scope":"EXACT","text":"Anemia, dyserythropoietic"},{"scope":"EXACT","text":"Defective erythropoiesis"},{"scope":"EXACT","text":"Dyserythropoietic anaemia"},{"scope":"EXACT","text":"Dyserythropoietic anemia"},{"scope":"EXACT","text":"Ineffective erythropoiesis"}]} +{"alt_ids":[],"definition":"An abnormality of myeloid leukocytes.","id":"HP:0010974","name":"Abnormal myeloid leukocyte morphology","obsolete":false,"parents":["HP:0001881"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of myeloid leukocytes"}]} +{"alt_ids":["HP:0025806"],"definition":"The absolute number of B cells in the blood, per microlitre is outside the limits of normal of the reference range for the appropriate sex and age-group.","id":"HP:0010975","name":"Abnormal total B cell count","obsolete":false,"parents":["HP:0002846","HP:0040088"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal B cell count"},{"scope":"EXACT","text":"Abnormal number of B cells"},{"scope":"EXACT","text":"Abnormal numbers of B cells"},{"scope":"EXACT","text":"Abnormality of B cell count"},{"scope":"EXACT","text":"Abnormality of B cell numbers"}]} +{"alt_ids":["HP:0002856","HP:0002956","HP:0005365","HP:0030251"],"definition":"The absolute number of B cells in the blood, per microlitre is below the lower limit of normal of the reference range for the appropriate sex and age-group.","id":"HP:0010976","name":"Decreased total B cell count","obsolete":false,"parents":["HP:0010975"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"B cell deficiency"},{"scope":"EXACT","text":"B cell lymphopenia"},{"scope":"EXACT","text":"B lymphocytopenia"},{"scope":"NARROW","text":"CD19 lymphocytes low"},{"scope":"EXACT","text":"Decreased B cell count"},{"scope":"EXACT","text":"Low B cell count"},{"scope":"EXACT","text":"Reduction in B cell number"}]} +{"alt_ids":[],"definition":"An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation.","id":"HP:0010977","name":"Abnormal phagocytosis","obsolete":false,"parents":["HP:0010978"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional abnormality of the immune system.","id":"HP:0010978","name":"Abnormality of immune system physiology","obsolete":false,"parents":["HP:0002715"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of lipoprotein cholesterol in the blood circulation.","id":"HP:0010979","name":"Abnormal circulating lipoprotein cholesterol concentration","obsolete":false,"parents":["HP:0003107"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal lipoprotein cholesterol level"},{"scope":"EXACT","text":"Abnormality of the level of lipoprotein cholesterol"}]} +{"alt_ids":[],"definition":"An abnormal increase in the level of lipoprotein cholesterol in the blood.","id":"HP:0010980","name":"Hyperlipoproteinemia","obsolete":false,"parents":["HP:0010979"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal decrease in the level of lipoprotein cholesterol in the blood.","id":"HP:0010981","name":"Hypolipoproteinemia","obsolete":false,"parents":["HP:0010979"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lack of fat in blood"}]} +{"alt_ids":[],"definition":"A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.","id":"HP:0010982","name":"Polygenic inheritance","obsolete":false,"parents":["HP:0001426"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Common, complex disease"},{"scope":"RELATED","text":"Complex disease"},{"scope":"RELATED","text":"Multifactorial inheritance"}]} +{"alt_ids":[],"definition":"A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform.","id":"HP:0010983","name":"Oligogenic inheritance","obsolete":false,"parents":["HP:0001426"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of multifactorial inheritance governed by the simultaneous action of two gene loci.","id":"HP:0010984","name":"Digenic inheritance","obsolete":false,"parents":["HP:0001426"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0010985","name":"obsolete Gonosomal inheritance","obsolete":true,"parents":[],"replaced_by":["HP:0000005"],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the morphology or counts of the cells that make up the immune system.","id":"HP:0010987","name":"Abnormal cellular immune system morphology","obsolete":false,"parents":["HP:0032251"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade.","id":"HP:0010988","name":"Abnormality of the extrinsic pathway","obsolete":false,"parents":["HP:0003256"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade.","id":"HP:0010989","name":"Abnormality of the intrinsic pathway","obsolete":false,"parents":["HP:0003256"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of blood coagulation, common pathway.","id":"HP:0010990","name":"Abnormality of the common coagulation pathway","obsolete":false,"parents":["HP:0003256"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the abdominal musculature.","id":"HP:0010991","name":"Abnormal morphology of the abdominal musculature","obsolete":false,"parents":["HP:0004298","HP:0040286"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the abdominal musculature"}]} +{"alt_ids":[],"definition":"Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing.","id":"HP:0010992","name":"Stress urinary incontinence","obsolete":false,"parents":["HP:0000020"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the cerebral subcortex.","id":"HP:0010993","name":"Abnormal cerebral subcortex morphology","obsolete":false,"parents":["HP:0002060"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the cerebral medulla"},{"scope":"EXACT","text":"Abnormality of the cerebral subcortex"}]} +{"alt_ids":[],"definition":"Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens.","id":"HP:0010994","name":"Abnormal corpus striatum morphology","obsolete":false,"parents":["HP:0002134"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the neostriatum"},{"scope":"EXACT","text":"Abnormality of the striate nucleus"},{"scope":"EXACT","text":"Abnormality of the striatum"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of dicarboxylic acid in the blood circulation.","id":"HP:0010995","name":"Abnormal circulating dicarboxylic acid concentration","obsolete":false,"parents":["HP:0004354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal dicarboxylic acid level"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of monocarboxylic acid in the blood circulation.","id":"HP:0010996","name":"Abnormal circulating monocarboxylic acid concentration","obsolete":false,"parents":["HP:0004354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal monocarboxylic acid level"}]} +{"alt_ids":[],"definition":"Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation.","id":"HP:0010997","name":"Chromosomal breakage induced by ionizing radiation","obsolete":false,"parents":["HP:0040012"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chromosomal breakage induced by ionising radiation"},{"scope":"EXACT","text":"Increased cellular radiosensitivity"},{"scope":"EXACT","text":"Radiation-induced chromosome instability"}]} +{"alt_ids":[],"definition":"An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells.","id":"HP:0010998","name":"Increased susceptibility to spontaneous sister chromatid exchange","obsolete":false,"parents":["HP:0003220"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0010999","name":"Aplasia of the optic tract","obsolete":false,"parents":["HP:0011000"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent optic tract"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011000","name":"Aplasia/Hypoplasia of the optic tract","obsolete":false,"parents":["HP:0002977"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small optic tract"},{"scope":"EXACT","text":"Absent/underdeveloped optic tract"}]} +{"alt_ids":["HP:0002796","HP:0004350","HP:0005711","HP:0005741","HP:0010738"],"definition":"An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.","id":"HP:0011001","name":"Increased bone mineral density","obsolete":false,"parents":["HP:0004348"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density"},{"scope":"EXACT","text":"Increased bone mineral density"},{"scope":"EXACT","text":"Osteosclerosis"},{"scope":"EXACT","text":"Osteosclerosis of bones"}]} +{"alt_ids":[],"definition":"Abnormally increased formation of dense trabecular bone tissue. 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primary lower central incisor"},{"scope":"EXACT","text":"Failure of development of deciduous mandibular central incisor"},{"scope":"EXACT","text":"Failure of development of primary mandibular central incisor"},{"scope":"RELATED","text":"Missing deciduous mandibular central incisor"},{"scope":"RELATED","text":"Missing lower central incisor milk tooth"},{"scope":"RELATED","text":"Missing lower front baby tooth"},{"scope":"RELATED","text":"Missing lower front milk tooth"},{"scope":"RELATED","text":"Missing lower front primary tooth"},{"scope":"RELATED","text":"Missing primary mandibular central incisor"}]} +{"alt_ids":[],"definition":"Agenesis of lower secondary incisor.","id":"HP:0011048","name":"Agenesis of permanent mandibular central incisor","obsolete":false,"parents":["HP:0006355"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Absence of permanent lower central incisor"},{"scope":"RELATED","text":"Absence of permanent lower front tooth"},{"scope":"RELATED","text":"Absence of permanent mandibular central incisor"},{"scope":"EXACT","text":"Agenesis of adult mandibular central incisor"},{"scope":"EXACT","text":"Failure of development of permanent mandibular central incisor"},{"scope":"RELATED","text":"Missing adult lower central incisor"},{"scope":"RELATED","text":"Missing permanent lower central incisor"},{"scope":"RELATED","text":"Missing permanent lower front tooth"},{"scope":"RELATED","text":"Missing permanent mandibular central incisor"}]} +{"alt_ids":[],"definition":"Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor.","id":"HP:0011049","name":"Agenesis of primary maxillary lateral incisor","obsolete":false,"parents":["HP:0000690"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Absence of deciduous maxillary lateral incisor"},{"scope":"RELATED","text":"Absence of primary maxillary lateral incisor"},{"scope":"EXACT","text":"Agenesis of deciduous maxillary lateral 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permanent upper lateral incisor"}]} +{"alt_ids":[],"definition":"Agenesis of premolar tooth.","id":"HP:0011051","name":"Agenesis of premolar","obsolete":false,"parents":["HP:0001592","HP:0011080"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Absence of bicuspid"},{"scope":"RELATED","text":"Absence of premolar"},{"scope":"EXACT","text":"Agenesis of bicuspid"},{"scope":"EXACT","text":"Failure of development of bicuspid"},{"scope":"EXACT","text":"Failure of development of premolar"},{"scope":"RELATED","text":"Missing bicuspid"},{"scope":"RELATED","text":"Missing premolar"}]} +{"alt_ids":[],"definition":"Agenesis of maxillary premolar.","id":"HP:0011052","name":"Agenesis of maxillary premolar","obsolete":false,"parents":["HP:0011051"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Absence of maxillary bicuspid"},{"scope":"RELATED","text":"Absence of maxillary premolar"},{"scope":"RELATED","text":"Absence of upper premolar"},{"scope":"EXACT","text":"Agenesis of maxillary 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incisors.","id":"HP:0011067","name":"Mesiodens","obsolete":false,"parents":["HP:0011069"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Extra tooth"},{"scope":"BROAD","text":"Extra tooth in the midline"},{"scope":"EXACT","text":"Median supernumary tooth"},{"scope":"NARROW","text":"Mesiodentes"},{"scope":"EXACT","text":"Midline supernumary tooth"}]} +{"alt_ids":[],"definition":"The presence of an odontoma.","id":"HP:0011068","name":"Odontoma","obsolete":false,"parents":["HP:0010566","HP:0100612"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Odontomas"}]} +{"alt_ids":["HP:0000672"],"definition":"The presence of one or more teeth additional to the normal number.","id":"HP:0011069","name":"Supernumerary tooth","obsolete":false,"parents":["HP:0006483"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extra teeth"},{"scope":"EXACT","text":"Hyperdontia"},{"scope":"EXACT","text":"Increased number of teeth"},{"scope":"EXACT","text":"Increased tooth count"},{"scope":"RELATED","text":"More teeth than normal"},{"scope":"NARROW","text":"Supernumary dentition"},{"scope":"NARROW","text":"Supernumary teeth"},{"scope":"EXACT","text":"Supernumerary teeth"},{"scope":"EXACT","text":"Supplemental dentition"},{"scope":"EXACT","text":"Supplemental teeth"},{"scope":"EXACT","text":"Tooth, supernumerary"}]} +{"alt_ids":["HP:0011077"],"definition":"An abnormality of morphology of molar tooth.","id":"HP:0011070","name":"Abnormal molar morphology","obsolete":false,"parents":["HP:0006482"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of molar tooth"},{"scope":"EXACT","text":"Abnormality of molar morphology"}]} +{"alt_ids":[],"definition":"An abnormality of morphology of permanent molar.","id":"HP:0011071","name":"Abnormal permanent molar morphology","obsolete":false,"parents":["HP:0011070"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of permanent molar morphology"},{"scope":"EXACT","text":"Abnormality of shape of adult molar"},{"scope":"EXACT","text":"Abnormality of shape of permanent molar"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011072","name":"Rootless teeth","obsolete":false,"parents":["HP:0006486"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of tooth root"},{"scope":"EXACT","text":"Agenesis of tooth root"},{"scope":"EXACT","text":"Aplasia of tooth root"},{"scope":"EXACT","text":"Missing tooth root"},{"scope":"EXACT","text":"Rootless teeth"},{"scope":"EXACT","text":"Teeth without roots"},{"scope":"RELATED","text":"Tooth with dentin dysplasia type i"}]} +{"alt_ids":[],"definition":"A developmental defect of tooth color.","id":"HP:0011073","name":"Abnormality of dental color","obsolete":false,"parents":["HP:0011061"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of dental color"},{"scope":"EXACT","text":"Abnormality of dental colour"},{"scope":"EXACT","text":"Abnormality of dental shade"},{"scope":"EXACT","text":"Abnormality of tooth color"},{"scope":"EXACT","text":"Abnormality of tooth colour"},{"scope":"EXACT","text":"Abnormality of tooth shade"}]} +{"alt_ids":[],"definition":"A localized form of developmental hypoplasia of the dental enamel.","id":"HP:0011074","name":"Localized hypoplasia of dental enamel","obsolete":false,"parents":["HP:0006297"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Localised dysplasia of tooth enamel"},{"scope":"EXACT","text":"Localised hypoplasia of dental enamel"},{"scope":"EXACT","text":"Localised hypoplasia of tooth enamel"},{"scope":"RELATED","text":"Localized dysplasia of tooth enamel"},{"scope":"EXACT","text":"Localized hypoplasia of tooth enamel"}]} +{"alt_ids":[],"definition":"A green staining of teeth.","id":"HP:0011075","name":"Green teeth","obsolete":false,"parents":["HP:0011073"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Green colored teeth"},{"scope":"EXACT","text":"Green coloured teeth"},{"scope":"EXACT","text":"Green teeth"},{"scope":"EXACT","text":"Green tooth shade"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011076","name":"obsolete Abnormality of premolar","obsolete":true,"parents":[],"replaced_by":["HP:0011080"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011077","name":"obsolete Abnormality of molar","obsolete":true,"parents":[],"replaced_by":["HP:0011070"],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of canine tooth.","id":"HP:0011078","name":"Abnormal canine tooth morphology","obsolete":false,"parents":["HP:0006482"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of canine"},{"scope":"EXACT","text":"Abnormality of eye tooth"}]} +{"alt_ids":[],"definition":"A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth).","id":"HP:0011079","name":"Impacted tooth","obsolete":false,"parents":["HP:0000706"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Buried tooth"},{"scope":"EXACT","text":"Impacted tooth"},{"scope":"EXACT","text":"Retained tooth"}]} +{"alt_ids":["HP:0011076"],"definition":"An abnormality of morphology of premolar tooth.","id":"HP:0011080","name":"Abnormal premolar morphology","obsolete":false,"parents":["HP:0006482"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of bicuspid morphology"},{"scope":"EXACT","text":"Abnormality of premolar morphology"},{"scope":"EXACT","text":"Abnormality of shape of bicuspid"},{"scope":"EXACT","text":"Abnormality of shape of premolar"}]} +{"alt_ids":[],"definition":"Increased size of the incisor tooth.","id":"HP:0011081","name":"Incisor macrodontia","obsolete":false,"parents":["HP:0001572","HP:0011063"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Hyperplasia of incisor"},{"scope":"BROAD","text":"Hypertrophy of incisor"},{"scope":"BROAD","text":"Increased size of incisor"},{"scope":"EXACT","text":"Increased width of incisor"},{"scope":"BROAD","text":"Large incisor"}]} +{"alt_ids":[],"definition":"An abnormal conical morphology of the primary incisor.","id":"HP:0011082","name":"Conical primary incisor","obsolete":false,"parents":["HP:0011065"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone shaped front baby tooth"},{"scope":"EXACT","text":"Conical deciduous incisor"},{"scope":"EXACT","text":"Conoid primary incisor"},{"scope":"RELATED","text":"Peg shaped front baby tooth"},{"scope":"RELATED","text":"Peg shaped primary incisor"},{"scope":"RELATED","text":"Pointed front baby tooth"},{"scope":"RELATED","text":"Pointed primary incisor"},{"scope":"EXACT","text":"Primary front shark tooth"}]} +{"alt_ids":[],"definition":"An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both.","id":"HP:0011083","name":"Conical maxillary incisor","obsolete":false,"parents":["HP:0011065"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone shaped maxillary incisor"},{"scope":"EXACT","text":"Cone shaped upper front tooth"},{"scope":"EXACT","text":"Conoid maxillary incisor"},{"scope":"RELATED","text":"Peg shaped upper front tooth"},{"scope":"RELATED","text":"Pointed maxillary incisor"},{"scope":"RELATED","text":"Pointed upper front tooth"},{"scope":"EXACT","text":"Upper front shark tooth"}]} +{"alt_ids":[],"definition":"A form of hypomineralization of enamel characterized by reduced calcification.","id":"HP:0011084","name":"Hypocalcification of dental enamel","obsolete":false,"parents":["HP:0006285"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased enamel calcification"},{"scope":"EXACT","text":"Poorly calcified tooth enamel"}]} +{"alt_ids":[],"definition":"A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color.","id":"HP:0011085","name":"Hypomature dental enamel","obsolete":false,"parents":["HP:0006285"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Immature tooth enamel"},{"scope":"NARROW","text":"Soft teeth"},{"scope":"NARROW","text":"Soft tooth enamel"}]} +{"alt_ids":[],"definition":"Developmental dysplasia of dentin or both the primary dentition and the permanent dentition.","id":"HP:0011086","name":"Dentinogenesis imperfecta of primary and permanent teeth","obsolete":false,"parents":["HP:0000703"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dentinogenesis imperfecta of adult and baby teeth"},{"scope":"EXACT","text":"Dentinogenesis imperfecta of both sets of teeth"}]} +{"alt_ids":[],"definition":"Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown).","id":"HP:0011087","name":"Talon cusp","obsolete":false,"parents":["HP:0033777"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dens evaginatus"},{"scope":"BROAD","text":"Extra cusp on inside of front tooth"},{"scope":"EXACT","text":"Talon cusps"}]} +{"alt_ids":[],"definition":"An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth.","id":"HP:0011088","name":"Dens in dente","obsolete":false,"parents":["HP:0011063"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dens invaginatus"},{"scope":"EXACT","text":"Tooth within a tooth"}]} +{"alt_ids":[],"definition":"Fusion of two adjacent teeth.","id":"HP:0011089","name":"Double tooth","obsolete":false,"parents":["HP:0006482"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Conjoined teeth"},{"scope":"EXACT","text":"Double tooth"},{"scope":"EXACT","text":"Teeth, double"},{"scope":"EXACT","text":"Twinning tooth"}]} +{"alt_ids":[],"definition":"The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch.","id":"HP:0011090","name":"Fused teeth","obsolete":false,"parents":["HP:0011089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused teeth"},{"scope":"EXACT","text":"Fusion of teeth"},{"scope":"EXACT","text":"Joined teeth"}]} +{"alt_ids":[],"definition":"The development of two teeth from a single tooth bud, leading to a larger fused tooth.","id":"HP:0011091","name":"Gemination","obsolete":false,"parents":["HP:0011089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gemination of tooth"},{"scope":"EXACT","text":"Splitting of crown of tooth"}]} +{"alt_ids":[],"definition":"Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry.","id":"HP:0011092","name":"Mulberry molar","obsolete":false,"parents":["HP:0011070","HP:0033777"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Syphilitic permanent first molar"}]} +{"alt_ids":[],"definition":"Increased size and molar morphology of premolar tooth.","id":"HP:0011093","name":"Molarization of premolar","obsolete":false,"parents":["HP:0011080"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Enlarged premolar"},{"scope":"RELATED","text":"Increased size of premolar"},{"scope":"EXACT","text":"Molar shape of bicuspid"},{"scope":"EXACT","text":"Molar shape of premolar"},{"scope":"EXACT","text":"Molarization of bicuspid"}]} +{"alt_ids":[],"definition":"Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm.","id":"HP:0011094","name":"Increased overbite","obsolete":false,"parents":["HP:0000692"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Deep bite"},{"scope":"NARROW","text":"Deep overbite"},{"scope":"EXACT","text":"Increased overlap of upper and lower incisors"},{"scope":"EXACT","text":"Overbite"},{"scope":"NARROW","text":"Scissors bite"},{"scope":"EXACT","text":"Supraocclusion"}]} +{"alt_ids":[],"definition":"An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure.","id":"HP:0011095","name":"Overjet","obsolete":false,"parents":["HP:0000692"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of horizontal incisor relationship"},{"scope":"RELATED","text":"Buck teeth"},{"scope":"RELATED","text":"Protrusion of the maxillary incisors"},{"scope":"EXACT","text":"Protrusion of upper teeth in front of lower teeth"},{"scope":"RELATED","text":"Upper teeth sticking out forward"}]} +{"alt_ids":["HP:0003381","HP:0006939","HP:0007282"],"definition":"A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.","id":"HP:0011096","name":"Peripheral demyelination","obsolete":false,"parents":["HP:0003130"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Demyelination"}]} +{"alt_ids":[],"definition":"A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages","id":"HP:0011097","name":"Epileptic spasm","obsolete":false,"parents":["HP:0020219"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Epileptic spasms"},{"scope":"EXACT","text":"Salaam convulsion"},{"scope":"EXACT","text":"Salaam convulsions"},{"scope":"EXACT","text":"Salaam seizure"},{"scope":"EXACT","text":"Salaam seizures"},{"scope":"RELATED","text":"West syndrome"}]} +{"alt_ids":[],"definition":"A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.","id":"HP:0011098","name":"Speech apraxia","obsolete":false,"parents":["HP:0002186"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Apraxia of speech"},{"scope":"RELATED","text":"Speech dyspraxia"},{"scope":"EXACT","text":"Verbal dyspraxia"}]} +{"alt_ids":[],"definition":"Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes.","id":"HP:0011099","name":"Spastic hemiparesis","obsolete":false,"parents":["HP:0001269","HP:0034353","HP:0100021"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spastic hemiplegia"}]} +{"alt_ids":[],"definition":"An abnormal closure, or atresia of the tubular structure of the intestine.","id":"HP:0011100","name":"Intestinal atresia","obsolete":false,"parents":["HP:0002242","HP:0002589"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal closure, or atresia of the tubular structure of the ileum.","id":"HP:0011102","name":"Ileal atresia","obsolete":false,"parents":["HP:0001549","HP:0011100"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the outflow tract of the left ventricle.","id":"HP:0011103","name":"Abnormal left ventricular outflow tract morphology","obsolete":false,"parents":["HP:0001711"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the left ventricular outflow tract"}]} +{"alt_ids":[],"definition":"An abnormality in the amount of volume occupied by intravascular blood.","id":"HP:0011104","name":"Abnormality of blood volume homeostasis","obsolete":false,"parents":["HP:0011028"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood.","id":"HP:0011105","name":"Hypervolemia","obsolete":false,"parents":["HP:0011104"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fluid overload in blood"}]} +{"alt_ids":[],"definition":"An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood.","id":"HP:0011106","name":"Hypovolemia","obsolete":false,"parents":["HP:0011104"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Depleted blood volume"}]} +{"alt_ids":[],"definition":"Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.","id":"HP:0011107","name":"Recurrent aphthous stomatitis","obsolete":false,"parents":["HP:0031446","HP:5210251"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Aphthous stomatitis"},{"scope":"RELATED","text":"Buccal aphthous ulcers"},{"scope":"RELATED","text":"Recurrent aphthous ulcers"},{"scope":"EXACT","text":"Recurrent canker sores"},{"scope":"EXACT","text":"Recurrent oral aphthae"}]} +{"alt_ids":[],"definition":"A recurrent form of sinusitis.","id":"HP:0011108","name":"Recurrent sinusitis","obsolete":false,"parents":["HP:0000246","HP:0002788"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Recurrent sinus disease"},{"scope":"EXACT","text":"Recurrent sinus infections"},{"scope":"EXACT","text":"Sinusitis, recurrent"}]} +{"alt_ids":[],"definition":"A chronic form of sinusitis.","id":"HP:0011109","name":"Chronic sinusitis","obsolete":false,"parents":["HP:0000246"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Chronic sinus disease"},{"scope":"RELATED","text":"Sinusitis, chronic"}]} +{"alt_ids":[],"definition":"Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis.","id":"HP:0011110","name":"Recurrent tonsillitis","obsolete":false,"parents":["HP:0002719","HP:0100765"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent inflammation of tonsils"}]} +{"alt_ids":[],"definition":"An abnormality of the concentration or function of circulating immune proteins.","id":"HP:0011111","name":"Abnormal immune serum protein physiology","obsolete":false,"parents":["HP:0010978"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of immune serum protein physiology"}]} +{"alt_ids":[],"definition":"Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells.","id":"HP:0011112","name":"Abnormal circulating cytokine concentration","obsolete":false,"parents":["HP:0011111"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of serum cytokine level"}]} +{"alt_ids":[],"definition":"An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells).","id":"HP:0011113","name":"Abnormality of cytokine secretion","obsolete":false,"parents":["HP:0011111"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha.","id":"HP:0011114","name":"Defective production of NFKB1-dependent cytokines","obsolete":false,"parents":["HP:0011113"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality in the production or cellular release of a chemokine (a class of cytokines).","id":"HP:0011115","name":"Abnormal circulating chemokine concentration","obsolete":false,"parents":["HP:0011112"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of chemokine secretion"}]} +{"alt_ids":["HP:0030354"],"definition":"The concentration of an interferon is outside the limits of normal.","id":"HP:0011116","name":"Abnormal circulating interferon concentration","obsolete":false,"parents":["HP:0011112"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal serum interferon level"},{"scope":"EXACT","text":"Abnormality of interferon secretion"}]} +{"alt_ids":["HP:0030782"],"definition":"The concentration of an interleukin (a class of cytokines) is outside the limits of normal.","id":"HP:0011117","name":"Abnormal circulating interleukin concentration","obsolete":false,"parents":["HP:0011112"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal serum IL level"},{"scope":"EXACT","text":"Abnormal serum interleukin level"},{"scope":"EXACT","text":"Abnormality of IL secretion"},{"scope":"EXACT","text":"Abnormality of interleukin secretion"}]} +{"alt_ids":[],"definition":"An abnormality in the production or cellular release of tumor necrosis factor.","id":"HP:0011118","name":"Abnormality of tumor necrosis factor secretion","obsolete":false,"parents":["HP:0011113"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of cachectin secretion"},{"scope":"EXACT","text":"Abnormality of cachexin secretion"},{"scope":"EXACT","text":"Abnormality of tumour necrosis factor secretion"}]} +{"alt_ids":[],"definition":"An abnormality of the nasal dorsum, also known as the nasal ridge.","id":"HP:0011119","name":"Abnormal nasal dorsum morphology","obsolete":false,"parents":["HP:0010938"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Abnormal morphology of dorsum of nose"},{"scope":"EXACT","text":"Abnormality of the dorsum of nose"},{"scope":"EXACT","text":"Abnormality of the nasal dorsum"},{"scope":"EXACT","text":"Abnormality of the nasal ridge"},{"scope":"EXACT","text":"Anomaly of the nasal ridge"},{"scope":"NARROW","text":"Crooked dorsum of nose"},{"scope":"NARROW","text":"Crooked nasal dorsum"},{"scope":"NARROW","text":"Crooked nasal ridge"},{"scope":"NARROW","text":"Deformity of the dorsum of the nose"},{"scope":"NARROW","text":"Deformity of the nasal dorsum"},{"scope":"NARROW","text":"Deformity of the nasal ridge"},{"scope":"NARROW","text":"Malformation of the dorsum of nose"},{"scope":"NARROW","text":"Malformation of the nasal dorsum"},{"scope":"NARROW","text":"Malformation of the nasal ridge"}]} +{"alt_ids":[],"definition":"Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.","id":"HP:0011120","name":"Concave nasal ridge","obsolete":false,"parents":["HP:0011119"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Boxer's nasal deformity"},{"scope":"EXACT","text":"Boxer's nose deformity"},{"scope":"EXACT","text":"Concave dorsum of nose"},{"scope":"EXACT","text":"Concave nasal dorsum"},{"scope":"EXACT","text":"Saddle nose"},{"scope":"RELATED","text":"Saddle nose deformity"},{"scope":"EXACT","text":"Saddle shaped nasal dorsum"},{"scope":"EXACT","text":"Ski jump nose"}]} +{"alt_ids":[],"definition":"Any morphological abnormality of the skin.","id":"HP:0011121","name":"Abnormal skin morphology","obsolete":false,"parents":["HP:0000951"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal skin structure"},{"scope":"EXACT","text":"Abnormality of skin morphology"}]} +{"alt_ids":[],"definition":"Any abnormality of the physiological function of the skin.","id":"HP:0011122","name":"Abnormal skin physiology","obsolete":false,"parents":["HP:0000951"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of skin physiology"}]} +{"alt_ids":["HP:0002727","HP:0007423"],"definition":"The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.","id":"HP:0011123","name":"Inflammatory abnormality of the skin","obsolete":false,"parents":["HP:0011122","HP:0012649"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal tendency to infections of the skin"},{"scope":"EXACT","text":"Inflammatory abnormality of the skin"},{"scope":"RELATED","text":"Inflammatory skin disease"},{"scope":"EXACT","text":"Skin inflammation"}]} +{"alt_ids":[],"definition":"An abnormality of the morphology of the epidermis.","id":"HP:0011124","name":"Abnormal epidermal morphology","obsolete":false,"parents":["HP:0011121"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of epidermal morphology"}]} +{"alt_ids":[],"definition":"An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis).","id":"HP:0011125","name":"Abnormal dermal melanosome morphology","obsolete":false,"parents":["HP:0001000"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of dermal melanosomes"}]} +{"alt_ids":[],"definition":"A significant descent of the kidney as the patient moves from the supine to the erect position.","id":"HP:0011126","name":"Nephroptosis","obsolete":false,"parents":["HP:0100542"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Floating kidney"},{"scope":"EXACT","text":"Renal ptosis"}]} +{"alt_ids":[],"definition":"A type of eczema that occurs in the lips and perioral area.","id":"HP:0011127","name":"Perioral eczema","obsolete":false,"parents":["HP:0000964"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eczema around the mouth"}]} +{"alt_ids":[],"definition":"A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction.","id":"HP:0011128","name":"Acute esophageal necrosis","obsolete":false,"parents":["HP:0002031"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A bilateral form of fetal pyelectasis.","id":"HP:0011129","name":"Bilateral fetal pyelectasis","obsolete":false,"parents":["HP:0010945"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bilateral fetal pyelectasia"},{"scope":"EXACT","text":"Bilateral foetal pyelectasia"},{"scope":"EXACT","text":"Bilateral foetal pyelectasis"}]} +{"alt_ids":[],"definition":"Any abnormality of the morphology of the major calices or minor calices of the kidney.","id":"HP:0011130","name":"Abnormal renal calyx morphology","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of renal calyx morphology"}]} +{"alt_ids":[],"definition":"The presence of a rash (change of color and texture) of the perianal skin.","id":"HP:0011131","name":"Perianal dermatitis","obsolete":false,"parents":["HP:0034915"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Perianal rash"}]} +{"alt_ids":[],"definition":"A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection.","id":"HP:0011132","name":"Chronic furunculosis","obsolete":false,"parents":["HP:0005406"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased sensitivity to the effects of ionizing radiation.","id":"HP:0011133","name":"Increased sensitivity to ionizing radiation","obsolete":false,"parents":["HP:0011017"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Mild fever that does not exceed 38.5 degrees centigrade.","id":"HP:0011134","name":"Low-grade fever","obsolete":false,"parents":["HP:0001945"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low-grade fever"},{"scope":"EXACT","text":"Mild fever"}]} +{"alt_ids":[],"definition":"Absence or developmental hypoplasia of the sweat glands.","id":"HP:0011135","name":"Aplasia/Hypoplasia of the sweat glands","obsolete":false,"parents":["HP:0000971"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small sweat glands"},{"scope":"EXACT","text":"Absent/underdeveloped sweat glands"}]} +{"alt_ids":[],"definition":"Absence of the sweat glands.","id":"HP:0011136","name":"Aplasia of the sweat glands","obsolete":false,"parents":["HP:0011135"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent sweat glands"},{"scope":"EXACT","text":"Lack of sweat glands"}]} +{"alt_ids":[],"definition":"Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus.","id":"HP:0011137","name":"Non-pruritic urticaria","obsolete":false,"parents":["HP:0011276"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Non-itchy hives"}]} +{"alt_ids":[],"definition":"An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.","id":"HP:0011138","name":"Abnormal skin adnexa morphology","obsolete":false,"parents":["HP:0001574"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal skin appendage"},{"scope":"EXACT","text":"Abnormality of skin adnexa morphology"}]} +{"alt_ids":[],"definition":"Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach.","id":"HP:0011139","name":"Gastric duplication","obsolete":false,"parents":["HP:0002577","HP:0011140"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gastric duplication cyst"}]} +{"alt_ids":[],"definition":"A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus.","id":"HP:0011140","name":"Gastrointestinal duplication","obsolete":false,"parents":["HP:0012718"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"GI duplication"}]} +{"alt_ids":[],"definition":"A type of cataract (opacification of the lens) that forms during the course of aging.","id":"HP:0011141","name":"Age-related cataract","obsolete":false,"parents":["HP:0000518"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Clouding of the lens of the eye with age"}]} +{"alt_ids":[],"definition":"A type of age-related cataract that primarily affects the nucleus of the lens.","id":"HP:0011142","name":"Age-related nuclear cataract","obsolete":false,"parents":["HP:0011141"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of age-related cataract that primarily affects the cortex of the lens.","id":"HP:0011143","name":"Age-related cortical cataract","obsolete":false,"parents":["HP:0011141"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule.","id":"HP:0011144","name":"Age-related posterior subcapsular cataract","obsolete":false,"parents":["HP:0011141"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed.","id":"HP:0011145","name":"Symptomatic seizures","obsolete":false,"parents":["HP:0001250"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A dialeptic seizure is a type of seizure characterized predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event.","id":"HP:0011146","name":"Dialeptic seizure","obsolete":false,"parents":["HP:0001250"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Behavioral arrest seizure with impairment of awareness irrespective of onset"},{"scope":"EXACT","text":"Behavioural arrest seizure with impairment of awareness irrespective of onset"},{"scope":"EXACT","text":"Unknown onset behavioral arrest seizure with impairment of awareness"},{"scope":"EXACT","text":"Unknown onset behavioural arrest seizure with impairment of awareness"}]} +{"alt_ids":[],"definition":"A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.","id":"HP:0011147","name":"Typical absence seizure","obsolete":false,"parents":["HP:0002121"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Typical absence"},{"scope":"EXACT","text":"Typical absence seizures"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011148","name":"obsolete Absence seizures with special features","obsolete":true,"parents":[],"replaced_by":["HP:0002121"],"synonyms":[]} +{"alt_ids":[],"definition":"An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterized by forced upward jerking of the eyelids during an absence seizure.","id":"HP:0011149","name":"Absence seizure with eyelid myoclonia","obsolete":false,"parents":["HP:0002121","HP:0032678"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence seizures with eyelid myoclonia"}]} +{"alt_ids":[],"definition":"Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017.","id":"HP:0011150","name":"Myoclonic absence seizure","obsolete":false,"parents":["HP:0002121"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Myoclonic absence"},{"scope":"EXACT","text":"Myoclonic absences"}]} +{"alt_ids":[],"definition":"Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure.","id":"HP:0011151","name":"Atypical absence status epilepticus","obsolete":false,"parents":["HP:0032860"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Obtundation status"}]} +{"alt_ids":[],"definition":"Typical absence seizures starting before the age of 4 years.","id":"HP:0011152","name":"Early onset absence seizures","obsolete":false,"parents":["HP:0011147"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Early onset petit mal seizures"}]} +{"alt_ids":[],"definition":"A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation.","id":"HP:0011153","name":"Focal motor seizure","obsolete":false,"parents":["HP:0007359","HP:0020219"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal motor seizures"},{"scope":"EXACT","text":"Localised motor seizure"},{"scope":"EXACT","text":"Localised motor seizures"},{"scope":"EXACT","text":"Localized motor seizure"},{"scope":"EXACT","text":"Localized motor seizures"},{"scope":"EXACT","text":"Partial motor seizure"},{"scope":"EXACT","text":"Partial motor seizures"},{"scope":"EXACT","text":"Segmental motor seizure"}]} +{"alt_ids":["HP:0011164"],"definition":"An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature.","id":"HP:0011154","name":"Focal autonomic seizure","obsolete":false,"parents":["HP:0032679"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal autonomic seizures"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011155","name":"obsolete Focal autonomic seizures with altered responsiveness","obsolete":true,"parents":[],"replaced_by":["HP:0032755"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011156","name":"obsolete Focal autonomic seizures without altered responsiveness","obsolete":true,"parents":[],"replaced_by":["HP:0032740"],"synonyms":[]} +{"alt_ids":[],"definition":"A focal sensory seizure is a type seizure beginning with a subjective sensation.","id":"HP:0011157","name":"Focal sensory seizure","obsolete":false,"parents":["HP:0033348"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal sensory seizures"},{"scope":"EXACT","text":"Partial sensory seizure"},{"scope":"EXACT","text":"Sensory aura"}]} +{"alt_ids":[],"definition":"A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation.","id":"HP:0011158","name":"Focal sensory seizure with auditory features","obsolete":false,"parents":["HP:0011157"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Auditory aura"},{"scope":"EXACT","text":"Focal auditory seizure"},{"scope":"EXACT","text":"Focal sensory auditory seizure"},{"scope":"EXACT","text":"Partial auditory seizure"}]} +{"alt_ids":[],"definition":"A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature.","id":"HP:0011159","name":"Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena","obsolete":false,"parents":["HP:0011154"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abdominal aura"},{"scope":"EXACT","text":"Epigastric aura"},{"scope":"EXACT","text":"Epigastric auras"},{"scope":"EXACT","text":"Localised seizure with epigastric sensation"},{"scope":"EXACT","text":"Localized seizure with epigastric sensation"},{"scope":"EXACT","text":"Partial seizure with epigastric sensation"},{"scope":"EXACT","text":"Visceral aura"}]} +{"alt_ids":[],"definition":"A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation.","id":"HP:0011160","name":"Focal sensory seizure with gustatory features","obsolete":false,"parents":["HP:0011157"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal gustatory seizure"},{"scope":"EXACT","text":"Focal sensory gustatory seizure"},{"scope":"EXACT","text":"Gustatory aura"},{"scope":"EXACT","text":"Gustatory auras"},{"scope":"EXACT","text":"Partial gustatory seizure"}]} +{"alt_ids":[],"definition":"Seizures characterized by olfactory phenomena as its first clinical manifestation.","id":"HP:0011161","name":"Focal sensory seizure with olfactory features","obsolete":false,"parents":["HP:0011157","HP:0033693"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal olfactory seizure"},{"scope":"EXACT","text":"Olfactory aura"},{"scope":"EXACT","text":"Olfactory auras"},{"scope":"EXACT","text":"Partial olfactory seizure"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011162","name":"obsolete Psychic auras","obsolete":true,"parents":[],"replaced_by":["HP:0032680"],"synonyms":[]} +{"alt_ids":[],"definition":"A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation.","id":"HP:0011163","name":"Focal sensory seizure with somatosensory features","obsolete":false,"parents":["HP:0011157"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal somatosensory seizure"},{"scope":"EXACT","text":"Partial somatosensory seizure"},{"scope":"EXACT","text":"Somatosensory aura"},{"scope":"EXACT","text":"Somatosensory auras"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011164","name":"obsolete Vegetative auras","obsolete":true,"parents":[],"replaced_by":["HP:0011154"],"synonyms":[]} +{"alt_ids":["HP:0007175","HP:0025121"],"definition":"A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation.","id":"HP:0011165","name":"Focal sensory seizure with visual features","obsolete":false,"parents":["HP:0011157"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal visual seizure"},{"scope":"EXACT","text":"Partial visual seizure"},{"scope":"RELATED","text":"Simple partial occipital seizures"},{"scope":"EXACT","text":"Visual aura"},{"scope":"EXACT","text":"Visual auras"}]} +{"alt_ids":["HP:0025191"],"definition":"A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.","id":"HP:0011166","name":"Focal myoclonic seizure","obsolete":false,"parents":["HP:0011153","HP:0032794"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal myoclonic seizures"},{"scope":"EXACT","text":"Local myoclonic seizures"},{"scope":"EXACT","text":"Localised myoclonic seizure"},{"scope":"EXACT","text":"Localized myoclonic seizure"},{"scope":"EXACT","text":"Partial myoclonic seizure"},{"scope":"EXACT","text":"Partial myoclonic seizures"},{"scope":"EXACT","text":"Segmental myoclonic seizure"},{"scope":"EXACT","text":"Segmental myoclonic seizures"}]} +{"alt_ids":[],"definition":"A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes.","id":"HP:0011167","name":"Focal tonic seizure","obsolete":false,"parents":["HP:0011153","HP:0032792"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal tonic seizures"},{"scope":"EXACT","text":"Local tonic seizures"},{"scope":"EXACT","text":"Localised tonic seizure"},{"scope":"EXACT","text":"Localized tonic seizure"},{"scope":"EXACT","text":"Partial tonic seizure"},{"scope":"EXACT","text":"Partial tonic seizures"},{"scope":"EXACT","text":"Segmental tonic seizure"}]} +{"alt_ids":[],"definition":"Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures.","id":"HP:0011168","name":"Focal seizure with eyelid myoclonia","obsolete":false,"parents":["HP:0011166"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.","id":"HP:0011169","name":"Generalized clonic seizure","obsolete":false,"parents":["HP:0020221","HP:0032677"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised clonic seizure"},{"scope":"EXACT","text":"Generalised clonic seizures"},{"scope":"EXACT","text":"Generalised onset clonic seizure"},{"scope":"EXACT","text":"Generalised-onset clonic seizure"},{"scope":"EXACT","text":"Generalized clonic seizures"},{"scope":"EXACT","text":"Generalized onset clonic seizure"},{"scope":"EXACT","text":"Generalized-onset clonic seizure"}]} +{"alt_ids":[],"definition":"A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component.","id":"HP:0011170","name":"Generalized myoclonic-atonic seizure","obsolete":false,"parents":["HP:0032677"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised myoclonic-atonic seizure"},{"scope":"EXACT","text":"Myoclonic atonic seizures"},{"scope":"EXACT","text":"Myoclonic-astatic seizure"}]} +{"alt_ids":[],"definition":"A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance.","id":"HP:0011171","name":"Simple febrile seizure","obsolete":false,"parents":["HP:0002373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Simple febrile convulsion"},{"scope":"EXACT","text":"Simple febrile seizures"},{"scope":"EXACT","text":"Simple fever fit"}]} +{"alt_ids":[],"definition":"A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period.","id":"HP:0011172","name":"Complex febrile seizure","obsolete":false,"parents":["HP:0002373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complex febrile convulsion"},{"scope":"EXACT","text":"Complex febrile seizures"},{"scope":"EXACT","text":"Complex fever fit"}]} +{"alt_ids":[],"definition":"A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure.","id":"HP:0011173","name":"Focal behavior arrest seizure","obsolete":false,"parents":["HP:0032679"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal behaviour arrest seizure"},{"scope":"EXACT","text":"Focal hypokinetic seizure"},{"scope":"EXACT","text":"Hypokinetic seizure"},{"scope":"EXACT","text":"Hypokinetic seizures"},{"scope":"EXACT","text":"Localised seizure with behavioral arrest"},{"scope":"EXACT","text":"Localised seizure with behavioural arrest"},{"scope":"EXACT","text":"Localized seizure with behavioral arrest"},{"scope":"EXACT","text":"Partial hypokinetic seizure"},{"scope":"EXACT","text":"Partial seizure with behavior arrest"},{"scope":"EXACT","text":"Partial seizure with behaviour arrest"}]} +{"alt_ids":[],"definition":"A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements.","id":"HP:0011174","name":"Focal hyperkinetic seizure","obsolete":false,"parents":["HP:0011153"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperkinetic seizures"},{"scope":"EXACT","text":"Localised hyperkinetic seizure"},{"scope":"EXACT","text":"Localized hyperkinetic seizure"},{"scope":"EXACT","text":"Partial hyperkinetic seizure"},{"scope":"EXACT","text":"Segmental hyperkinetic seizure"}]} +{"alt_ids":[],"definition":"A type of focal motor seizure characterized by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation.","id":"HP:0011175","name":"Focal motor seizure with version","obsolete":false,"parents":["HP:0011153"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Versive seizure"},{"scope":"EXACT","text":"Versive seizures"}]} +{"alt_ids":[],"definition":"An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic.","id":"HP:0011176","name":"EEG with constitutional variants","obsolete":false,"parents":["HP:0002353"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG background activity at 4-5/second.","id":"HP:0011177","name":"EEG with 4-5/second background activity","obsolete":false,"parents":["HP:0011176"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG dominated by diffuse alpha-waves (8-13Hz).","id":"HP:0011178","name":"Alpha-EEG","obsolete":false,"parents":["HP:0011176"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG dominated by diffuse beta-waves (>13 Hz).","id":"HP:0011179","name":"Beta-EEG","obsolete":false,"parents":["HP:0011176","HP:0011202"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Beta wave electroencephalography"}]} +{"alt_ids":[],"definition":"EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz).","id":"HP:0011180","name":"Partial beta-EEG","obsolete":false,"parents":["HP:0011179"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz).","id":"HP:0011181","name":"Low voltage EEG","obsolete":false,"parents":["HP:0011176"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.","id":"HP:0011182","name":"Interictal epileptiform activity","obsolete":false,"parents":["HP:0025373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Epileptiform EEG discharges"}]} +{"alt_ids":[],"definition":"Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).","id":"HP:0011183","name":"EEG with hyperventilation-induced focal epileptiform discharges","obsolete":false,"parents":["HP:0010858"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).","id":"HP:0011184","name":"EEG with hyperventilation-induced generalized epileptiform discharges","obsolete":false,"parents":["HP:0010858"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EEG with hyperventilation-induced generalised epileptiform discharges"}]} +{"alt_ids":["HP:0010840"],"definition":"EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).","id":"HP:0011185","name":"EEG with focal epileptiform discharges","obsolete":false,"parents":["HP:0011182"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal EEG Abnormality"}]} +{"alt_ids":[],"definition":"Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization.","id":"HP:0011186","name":"Focal epileptiform discharges with limited propagation to contralateral hemisphere","obsolete":false,"parents":["HP:0011185"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain.","id":"HP:0011187","name":"Focal EEG discharges with propagation to ipsilateral hemisphere","obsolete":false,"parents":["HP:0011185"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp.","id":"HP:0011188","name":"Focal EEG discharges with secondary generalization","obsolete":false,"parents":["HP:0011185"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal EEG discharges with secondary generalisation"}]} +{"alt_ids":[],"definition":"Epileptiform discharges being identified at multiple locations in both hemispheres.","id":"HP:0011189","name":"Bilateral multifocal epileptiform discharges","obsolete":false,"parents":["HP:0010841"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere.","id":"HP:0011190","name":"Uni- and bilateral multifocal epileptiform discharges","obsolete":false,"parents":["HP:0010841"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Epileptiform discharges being identified at multiple locations in one hemisphere.","id":"HP:0011191","name":"Unilateral multifocal epileptiform discharges","obsolete":false,"parents":["HP:0010841"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal epileptiform discharges of different shapes and frequencies.","id":"HP:0011192","name":"Polymorphic focal epileptiform discharges","obsolete":false,"parents":["HP:0011185"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG with focal sharp transient waves of a duration less than 80 msec.","id":"HP:0011193","name":"EEG with focal spikes","obsolete":false,"parents":["HP:0011185"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal spikes occurring for several seconds.","id":"HP:0011194","name":"EEG with series of focal spikes","obsolete":false,"parents":["HP:0011193"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.","id":"HP:0011195","name":"EEG with focal sharp slow waves","obsolete":false,"parents":["HP:0011185"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG with focal sharp transient waves of a duration between 80 and 200 msec.","id":"HP:0011196","name":"EEG with focal sharp waves","obsolete":false,"parents":["HP:0011185"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave.","id":"HP:0011197","name":"EEG with focal spike waves","obsolete":false,"parents":["HP:0011185"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0010842"],"definition":"EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.","id":"HP:0011198","name":"EEG with generalized epileptiform discharges","obsolete":false,"parents":["HP:0011182"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EEG with generalised epileptiform discharges"}]} +{"alt_ids":[],"definition":"EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.","id":"HP:0011199","name":"EEG with generalized sharp slow waves","obsolete":false,"parents":["HP:0011198"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EEG with generalised sharp slow waves"}]} +{"alt_ids":[],"definition":"Generalized epileptiform discharges of different shapes and frequencies.","id":"HP:0011200","name":"EEG with generalized polymorphic epileptiform discharges","obsolete":false,"parents":["HP:0011198"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EEG with generalised polymorphic epileptiform discharges"}]} +{"alt_ids":[],"definition":"EEG with abnormal amplitude.","id":"HP:0011201","name":"EEG with changes in voltage","obsolete":false,"parents":["HP:0002353"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG frequency is abnormally increased.","id":"HP:0011202","name":"EEG with diffuse acceleration","obsolete":false,"parents":["HP:0002353"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG with abnormally slow frequencies.","id":"HP:0011203","name":"EEG with abnormally slow frequencies","obsolete":false,"parents":["HP:0002353"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG showing diffuse slowing without interruption.","id":"HP:0011204","name":"EEG with continuous slow activity","obsolete":false,"parents":["HP:0010845"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Non-continuous diffuse slowing of electroencephalographic patterns.","id":"HP:0011205","name":"EEG with intermittent slow activity","obsolete":false,"parents":["HP:0010845"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Slowing at frequencies between 7.5 and 8.5 Hz.","id":"HP:0011206","name":"EEG with generalized slow activity grade 1","obsolete":false,"parents":["HP:0010845"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EEG with generalised slow activity grade 1"}]} +{"alt_ids":[],"definition":"Generalized slowing of EEG activity at frequencies between 4-7 Hz.","id":"HP:0011207","name":"EEG with generalized slow activity grade 2","obsolete":false,"parents":["HP:0010845"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EEG with generalised slow activity grade 2"}]} +{"alt_ids":[],"definition":"Generalized slowing of EEG activity at frequencies between 0.5-3 Hz.","id":"HP:0011208","name":"EEG with generalized slow activity grade 3","obsolete":false,"parents":["HP:0010845"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EEG with generalised slow activity grade 3"}]} +{"alt_ids":[],"definition":"EEG without electrical activity.","id":"HP:0011209","name":"EEG with generalized slow activity 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occipital, central, temporal and parietal regions during photic stimulation.","id":"HP:0011213","name":"EEG with photoparoxysmal response grade III","obsolete":false,"parents":["HP:0010852"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Occurrence of generalized epileptiform discharges during photic stimulation.","id":"HP:0011214","name":"EEG with photoparoxysmal response grade IV","obsolete":false,"parents":["HP:0010852"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hypsarrhythmia occurring in one hemisphere.","id":"HP:0011215","name":"Hemihypsarrhythmia","obsolete":false,"parents":["HP:0011185"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal shape of occiput.","id":"HP:0011217","name":"Abnormal shape of the occiput","obsolete":false,"parents":["HP:0012294"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of posterior cranium"},{"scope":"BROAD","text":"Abnormal shape of posterior 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face"},{"scope":"EXACT","text":"Decreased length of face"},{"scope":"EXACT","text":"Decreased vertical dimension of face"},{"scope":"EXACT","text":"Short face"},{"scope":"EXACT","text":"Short facies"},{"scope":"EXACT","text":"Vertical Facial Deficiency"},{"scope":"EXACT","text":"Vertical deficiency of face"},{"scope":"EXACT","text":"Vertical facial insufficiency"},{"scope":"EXACT","text":"Vertical hypoplasia of face"},{"scope":"EXACT","text":"Vertical insufficiency of face"},{"scope":"EXACT","text":"Vertical shortening of face"}]} +{"alt_ids":["HP:0200061"],"definition":"Forward prominence of the entire forehead, due to protrusion of the frontal bone.","id":"HP:0011220","name":"Prominent forehead","obsolete":false,"parents":["HP:0000290"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Bulging forehead"},{"scope":"EXACT","text":"Prominence of frontal region"},{"scope":"EXACT","text":"Prominent forehead"},{"scope":"EXACT","text":"Pronounced 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eyebrows"},{"scope":"EXACT","text":"Flat area between the eyebrows"},{"scope":"EXACT","text":"Flat glabella"},{"scope":"EXACT","text":"Hypoplasia of glabella"}]} +{"alt_ids":[],"definition":"Linear vertical groove in the midline of the forehead, extending from hairline to glabella.","id":"HP:0011223","name":"Metopic depression","obsolete":false,"parents":["HP:0005556"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Depression of frontal cranial suture"},{"scope":"EXACT","text":"Depression of metopic cranial suture"},{"scope":"EXACT","text":"Frontal suture depression"}]} +{"alt_ids":["HP:0009925"],"definition":"Absent eyelids.","id":"HP:0011224","name":"Ablepharon","obsolete":false,"parents":["HP:0011226"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ablepharon of eyelid"},{"scope":"EXACT","text":"Absent eyelids"},{"scope":"EXACT","text":"Agenesis of eyelids"},{"scope":"RELATED","text":"Aplasia of the eyelids"},{"scope":"EXACT","text":"Missing eyelids"}]} +{"alt_ids":[],"definition":"Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva.","id":"HP:0011225","name":"Epiblepharon","obsolete":false,"parents":["HP:0000492"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the eyelid.","id":"HP:0011226","name":"Aplasia/Hypoplasia of the eyelid","obsolete":false,"parents":["HP:0000492"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Failure of development of eyelid"},{"scope":"EXACT","text":"Hypotrophic eyelid"}]} +{"alt_ids":[],"definition":"The concentration of C-reactive protein in the blood circulation is above the upper limit of normal.","id":"HP:0011227","name":"Elevated circulating C-reactive protein concentration","obsolete":false,"parents":["HP:0032436","HP:0033331"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated C-reactive protein concentration"},{"scope":"EXACT","text":"Elevated C-reactive protein level"},{"scope":"EXACT","text":"Elevated C-reactive protein level in blood"},{"scope":"RELATED","text":"Elevated CRP"},{"scope":"EXACT","text":"Increased C-reactive protein concentration"},{"scope":"EXACT","text":"Increased C-reactive protein level"},{"scope":"EXACT","text":"Increased C-reactive protein level in blood"}]} +{"alt_ids":[],"definition":"An eyebrow that extends straight across the brow, without curve.","id":"HP:0011228","name":"Horizontal eyebrow","obsolete":false,"parents":["HP:0000534"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flat eyebrow"},{"scope":"EXACT","text":"Horizontal eyebrow"},{"scope":"BROAD","text":"Lack of eyebrow arch"},{"scope":"BROAD","text":"Lack of eyebrow curvature"},{"scope":"EXACT","text":"Straight eyebrow"},{"scope":"RELATED","text":"Straight eyebrows"}]} +{"alt_ids":[],"definition":"Regional increase in the width (height) of the eyebrow.","id":"HP:0011229","name":"Broad 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length and/or curl without meeting the criteria of trichomegaly.","id":"HP:0011231","name":"Prominent eyelashes","obsolete":false,"parents":["HP:0000499"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prominent eyelashes"},{"scope":"NARROW","text":"Thick eyelashes"}]} +{"alt_ids":[],"definition":"Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge.","id":"HP:0011232","name":"Infra-orbital fold","obsolete":false,"parents":["HP:0000606"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Dennie-Morgan fold"},{"scope":"EXACT","text":"Infraorbital fold"}]} +{"alt_ids":[],"definition":"Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha.","id":"HP:0011233","name":"Antihelical shelf","obsolete":false,"parents":["HP:0009738"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Conchal shelf"}]} +{"alt_ids":[],"definition":"No discernible ridge between concha and triangular fossa and helix.","id":"HP:0011234","name":"Absent antihelix","obsolete":false,"parents":["HP:0009738"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Supernumerary ridge or crus of the ear arising from the antihelix.","id":"HP:0011235","name":"Additional crus of antihelix","obsolete":false,"parents":["HP:0009738"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc.","id":"HP:0011236","name":"Angulated antihelix","obsolete":false,"parents":["HP:0009738"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased width of the inferred cross-section of the inferior crus.","id":"HP:0011237","name":"Broad inferior crus of antihelix","obsolete":false,"parents":["HP:0011243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Antihelix, inferior crus, broad"}]} 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antihelix","obsolete":false,"parents":["HP:0011244"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Antihelix, stem, underdeveloped"}]} +{"alt_ids":[],"definition":"An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa.","id":"HP:0011243","name":"Abnormality of inferior crus of antihelix","obsolete":false,"parents":["HP:0009738"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of anterior crus of antihelix"}]} +{"alt_ids":[],"definition":"An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura.","id":"HP:0011244","name":"Abnormality of stem of antihelix","obsolete":false,"parents":["HP:0009738"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the superior crus of the 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antihelix","obsolete":false,"parents":["HP:0011245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperplastic superior crus of antihelix"},{"scope":"EXACT","text":"Hypertrophic superior crus of antihelix"}]} +{"alt_ids":[],"definition":"Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear).","id":"HP:0011248","name":"Everted antitragus","obsolete":false,"parents":["HP:0009896"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.","id":"HP:0011249","name":"Absent antitragus","obsolete":false,"parents":["HP:0009896"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Double rather than single peak of the antitragus.","id":"HP:0011250","name":"Bifid antitragus","obsolete":false,"parents":["HP:0009896"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Double antitragus"}]} +{"alt_ids":[],"definition":"Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.","id":"HP:0011251","name":"Underdeveloped antitragus","obsolete":false,"parents":["HP:0009896"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic antitragus"},{"scope":"EXACT","text":"Hypotrophic antitragus"},{"scope":"EXACT","text":"Small antitragus"}]} +{"alt_ids":[],"definition":"Invagination of the superior part of the auricle under a fold of temporal skin.","id":"HP:0011252","name":"Cryptotia","obsolete":false,"parents":["HP:0000377"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Buried ear"},{"scope":"EXACT","text":"Hidden ear"}]} +{"alt_ids":[],"definition":"A type of cryptotia associated with reduction in size of the antihelix and superior crus.","id":"HP:0011253","name":"Type I 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lobe.","id":"HP:0011265","name":"Cleft earlobe","obsolete":false,"parents":["HP:0000363"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bifid earlobe"},{"scope":"EXACT","text":"Bifid lobe"},{"scope":"EXACT","text":"Cleft earlobe"},{"scope":"EXACT","text":"Notched earlobe"},{"scope":"EXACT","text":"Notched lobe"}]} +{"alt_ids":["HP:0000379"],"definition":"Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean.","id":"HP:0011266","name":"Microtia, first degree","obsolete":false,"parents":["HP:0008551"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"First-degree microtia"}]} +{"alt_ids":[],"definition":"Presence of some auricular structures, but none of these structures conform to recognized ear components.","id":"HP:0011267","name":"Microtia, third degree","obsolete":false,"parents":["HP:0008551"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Abnormal shape/structure of ear"},{"scope":"EXACT","text":"Third-degree microtia"}]} +{"alt_ids":[],"definition":"Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix.","id":"HP:0011268","name":"Absent tragus","obsolete":false,"parents":["HP:0009913"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak.","id":"HP:0011269","name":"Bifid tragus","obsolete":false,"parents":["HP:0009912"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Notched tragus"},{"scope":"EXACT","text":"Tragus, bifid"}]} +{"alt_ids":[],"definition":"A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus.","id":"HP:0011270","name":"Duplicated tragus","obsolete":false,"parents":["HP:0009912"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Accessory tragus"},{"scope":"EXACT","text":"Tragus, duplicated"}]} +{"alt_ids":[],"definition":"Increase posterolateral protrusion of the tragus.","id":"HP:0011271","name":"Prominent tragus","obsolete":false,"parents":["HP:0009912"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged tragus"},{"scope":"EXACT","text":"Hyperplastic tragus"},{"scope":"EXACT","text":"Hypertrophic tragus"},{"scope":"EXACT","text":"Large tragus"},{"scope":"EXACT","text":"Tragus, prominent"}]} +{"alt_ids":[],"definition":"Decreased posterolateral protrusion of the tragus.","id":"HP:0011272","name":"Underdeveloped tragus","obsolete":false,"parents":["HP:0009913"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic tragus"},{"scope":"EXACT","text":"Hypotrophic tragus"},{"scope":"EXACT","text":"Small tragus"}]} +{"alt_ids":[],"definition":"Abnormally increased variability in the size of erythrocytes.","id":"HP:0011273","name":"Anisocytosis","obsolete":false,"parents":["HP:0001877"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unequal size of red blood cells"}]} +{"alt_ids":[],"definition":"Increased susceptibility to mycobacterial infections as manifested by recurrent episodes of mycobacterial infection.","id":"HP:0011274","name":"Recurrent mycobacterial infections","obsolete":false,"parents":["HP:0002718","HP:5210110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to mycobacterial avium complex infections as manifested by recurrent episodes of mycobacterial infection.","id":"HP:0011275","name":"Recurrent mycobacterium avium complex infections","obsolete":false,"parents":["HP:0011274"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011276","name":"Vascular skin abnormality","obsolete":false,"parents":["HP:0002597","HP:0011354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Skin vascular malformation"},{"scope":"RELATED","text":"Vascular abnormalities restricted to skin"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011277","name":"Abnormality of the urinary system physiology","obsolete":false,"parents":["HP:0000079"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0010961"],"definition":"A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree.","id":"HP:0011278","name":"Intrapulmonary lobar sequestration","obsolete":false,"parents":["HP:0100632"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intralobar sequestration"},{"scope":"EXACT","text":"Intrapulmonary sequestration"}]} +{"alt_ids":[],"definition":"An abnormal amount of hydrogencarbonate in the urine.","id":"HP:0011279","name":"Abnormality of urine bicarbonate level","obsolete":false,"parents":["HP:6000531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of urine HCO3 concentration"}]} +{"alt_ids":[],"definition":"An abnormality of calcium concentration in the urine.","id":"HP:0011280","name":"Abnormality of urine calcium concentration","obsolete":false,"parents":["HP:0012591"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of urine Ca concentration"},{"scope":"EXACT","text":"Abnormality of urine Ca2+ concentration"}]} +{"alt_ids":[],"definition":"An abnormal amount of urinary catecholamine concentration.","id":"HP:0011281","name":"Abnormality of urine catecholamine level","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the hindbrain, also known as the rhombencephalon.","id":"HP:0011282","name":"Abnormal hindbrain morphology","obsolete":false,"parents":["HP:0012443"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of hindbrain"},{"scope":"EXACT","text":"Abnormality of hindbrain morphology"},{"scope":"EXACT","text":"Abnormality of the hindbrain"}]} +{"alt_ids":[],"definition":"An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum.","id":"HP:0011283","name":"Abnormal metencephalon morphology","obsolete":false,"parents":["HP:0011282"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the metencephalon"}]} +{"alt_ids":[],"definition":"A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid.","id":"HP:0011284","name":"Short-segment aganglionic megacolon","obsolete":false,"parents":["HP:0002251"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid.","id":"HP:0011285","name":"Long-segment aganglionic megacolon","obsolete":false,"parents":["HP:0002251"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon.","id":"HP:0011286","name":"Total colonic aganglionosis","obsolete":false,"parents":["HP:0002251"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.","id":"HP:0011287","name":"EEG with occipital sharp slow waves","obsolete":false,"parents":["HP:0011195","HP:0033720"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.","id":"HP:0011288","name":"EEG with parietal sharp slow waves","obsolete":false,"parents":["HP:0011195","HP:0033719"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.","id":"HP:0011289","name":"EEG with temporal sharp slow waves","obsolete":false,"parents":["HP:0011195","HP:0033717"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.","id":"HP:0011290","name":"EEG with frontal sharp slow waves","obsolete":false,"parents":["HP:0011195","HP:0033716"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.","id":"HP:0011291","name":"EEG with central sharp slow waves","obsolete":false,"parents":["HP:0011195","HP:0033718"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec.","id":"HP:0011292","name":"EEG with occipital sharp waves","obsolete":false,"parents":["HP:0011196","HP:0033720"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec.","id":"HP:0011293","name":"EEG with central sharp waves","obsolete":false,"parents":["HP:0011196","HP:0033718"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec.","id":"HP:0011294","name":"EEG with frontal sharp waves","obsolete":false,"parents":["HP:0011196","HP:0033716"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec.","id":"HP:0011295","name":"EEG with parietal sharp waves","obsolete":false,"parents":["HP:0011196","HP:0033719"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec.","id":"HP:0011296","name":"EEG with temporal sharp waves","obsolete":false,"parents":["HP:0011196","HP:0033717"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A morphological abnormality of a digit, i.e., of a finger or toe.","id":"HP:0011297","name":"Abnormal digit morphology","obsolete":false,"parents":["HP:0002813"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of digit"},{"scope":"EXACT","text":"Abnormality of fingers or toes"},{"scope":"EXACT","text":"Digital anomalies"}]} +{"alt_ids":[],"definition":"A soft tissue prominence of the ventral aspects of the fingertips or toe tips.","id":"HP:0011298","name":"Prominent digit pad","obsolete":false,"parents":["HP:0011356"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prominent digit pad"}]} +{"alt_ids":[],"definition":"The absence of a phalangeal segment of a finger.","id":"HP:0011299","name":"Partial absence of finger","obsolete":false,"parents":["HP:0005918"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial absence of finger"}]} +{"alt_ids":[],"definition":"Increased width of the distal segment of a finger.","id":"HP:0011300","name":"Broad fingertip","obsolete":false,"parents":["HP:0001211"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad fingertip"},{"scope":"EXACT","text":"Broad fingertips"}]} +{"alt_ids":[],"definition":"The total absence of the foot, with no bony elements distal to the tibia or fibula.","id":"HP:0011301","name":"Absent foot","obsolete":false,"parents":["HP:0006494","HP:6000946"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent foot"},{"scope":"EXACT","text":"Aplasia of the foot"},{"scope":"EXACT","text":"Apodia"}]} +{"alt_ids":["HP:0001502"],"definition":"For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length.","id":"HP:0011302","name":"Long palm","obsolete":false,"parents":["HP:0100871"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Long palm"}]} +{"alt_ids":[],"definition":"The contour of the foot in lateral profile has a convex shape.","id":"HP:0011303","name":"Convex contour of sole","obsolete":false,"parents":["HP:0100872"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001173","HP:0001240","HP:0004073","HP:0009651"],"definition":"Increased thumb width without increased dorso-ventral dimension.","id":"HP:0011304","name":"Broad thumb","obsolete":false,"parents":["HP:0009602","HP:0009768"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad phalanges of the thumb"},{"scope":"EXACT","text":"Broad thumb"},{"scope":"EXACT","text":"Broad thumbs"},{"scope":"EXACT","text":"Wide/broad thumb"},{"scope":"EXACT","text":"Wide/broad thumb phalanges"}]} +{"alt_ids":[],"definition":"The absence of a phalangeal segment of a toe or hallux.","id":"HP:0011305","name":"Partial absence of toe","obsolete":false,"parents":["HP:0010760"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypophalangy of toes"},{"scope":"EXACT","text":"Partial absence of toe"}]} +{"alt_ids":[],"definition":"Divergence of digits along the anteroposterior axis (in the plane of the sole).","id":"HP:0011307","name":"Splayed toes","obsolete":false,"parents":["HP:0001780"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Splayed toes"}]} +{"alt_ids":["HP:0200091"],"definition":"Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.","id":"HP:0011308","name":"Slender toe","obsolete":false,"parents":["HP:0001780"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrow toe"},{"scope":"EXACT","text":"Slender toe"}]} +{"alt_ids":["HP:0008088","HP:0200089"],"definition":"The gradual reduction in girth of the toe from proximal to distal.","id":"HP:0011309","name":"Tapered toe","obsolete":false,"parents":["HP:0001780"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tapered toe"},{"scope":"EXACT","text":"Tapering toes"}]} +{"alt_ids":[],"definition":"A crease that connects the proximal and distal transverse palmar creases.","id":"HP:0011310","name":"Bridged palmar crease","obsolete":false,"parents":["HP:0010490"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bridged palm line"},{"scope":"EXACT","text":"Transitional palmar crease"}]} +{"alt_ids":[],"definition":"Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm.","id":"HP:0011311","name":"Sydney crease","obsolete":false,"parents":["HP:0010490"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature.","id":"HP:0011312","name":"Fused nails","obsolete":false,"parents":["HP:0002164"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused nails"}]} +{"alt_ids":["HP:0200076"],"definition":"Decreased width of nail.","id":"HP:0011313","name":"Narrow nail","obsolete":false,"parents":["HP:0002164"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrow nail"}]} +{"alt_ids":["HP:0100713","HP:0100714","HP:0100715"],"definition":"An abnormality of size or shape of the long bones.","id":"HP:0011314","name":"Abnormal long bone 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suture.","id":"HP:0011317","name":"Right unicoronal synostosis","obsolete":false,"parents":["HP:0011315"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Synostosis affecting the right and the left coronal suture.","id":"HP:0011318","name":"Bicoronal synostosis","obsolete":false,"parents":["HP:0004440"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bilateral coronal craniosynostosis"},{"scope":"EXACT","text":"Bilateral coronal suture craniosynostosis"},{"scope":"EXACT","text":"Bilateral coronal suture synostosis"}]} +{"alt_ids":[],"definition":"Premature synostosis of both lambdoid sutures.","id":"HP:0011319","name":"Bilambdoid synostosis","obsolete":false,"parents":["HP:0004443"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bilateral lambdoid craniosynostosis"},{"scope":"EXACT","text":"Bilateral lambdoid suture synostosis"}]} +{"alt_ids":[],"definition":"Premature synostosis of only one lambdoid suture.","id":"HP:0011320","name":"Unilambdoid synostosis","obsolete":false,"parents":["HP:0004443"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unilateral lambdoid craniosynostosis"},{"scope":"EXACT","text":"Unilateral lambdoid suture synostosis"}]} +{"alt_ids":[],"definition":"Premature synostosis of only the left lambdoid suture.","id":"HP:0011321","name":"Left unilambdoid synostosis","obsolete":false,"parents":["HP:0011320"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Premature synostosis of only the right lambdoid suture.","id":"HP:0011322","name":"Right unilambdoid synostosis","obsolete":false,"parents":["HP:0011320"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin.","id":"HP:0011323","name":"Cleft of chin","obsolete":false,"parents":["HP:0000306"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cleft of chin"},{"scope":"EXACT","text":"Midline defect of chin"}]} +{"alt_ids":[],"definition":"Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified.","id":"HP:0011324","name":"Multiple suture craniosynostosis","obsolete":false,"parents":["HP:0001363"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multisutural craniosynostosis"}]} +{"alt_ids":[],"definition":"Craniosynostosis of all calvarial sutures.","id":"HP:0011325","name":"Pansynostosis","obsolete":false,"parents":["HP:0011324"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sysnostosis of all cranial sutures"}]} +{"alt_ids":[],"definition":"Asymmetry of the anterior part of the skull.","id":"HP:0011326","name":"Anterior plagiocephaly","obsolete":false,"parents":["HP:0001357"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anterior flat head syndrome"},{"scope":"RELATED","text":"Coronal synostosis"},{"scope":"NARROW","text":"Deformational anterior plagiocephaly"},{"scope":"EXACT","text":"Deformational frontal plagiocephaly"},{"scope":"EXACT","text":"Frontal plagiocephaly"},{"scope":"NARROW","text":"Positional anterior plagiocephaly"},{"scope":"NARROW","text":"Positional frontal plagiocephaly"},{"scope":"RELATED","text":"Unicoronal craniosynostosis"}]} +{"alt_ids":[],"definition":"Asymmetry of the posterior part of the skull.","id":"HP:0011327","name":"Posterior plagiocephaly","obsolete":false,"parents":["HP:0001357"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deformational posterior plagiocephaly"},{"scope":"EXACT","text":"Occipital plagiocephaly"}]} +{"alt_ids":[],"definition":"An abnormality of the fontanelle.","id":"HP:0011328","name":"Abnormal fontanelle morphology","obsolete":false,"parents":["HP:0000235"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Anomaly of the fontanelles"}]} +{"alt_ids":[],"definition":"Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.","id":"HP:0011329","name":"Abnormality of cranial sutures","obsolete":false,"parents":["HP:0000235"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of cranial sutures"},{"scope":"EXACT","text":"Abnormality of the bregma sutures"},{"scope":"EXACT","text":"Abnormality of the calvarium sutures"},{"scope":"EXACT","text":"Abnormality of the cranial sutures"},{"scope":"EXACT","text":"Abnormality of the skull suture"}]} +{"alt_ids":[],"definition":"Premature fusion of the metopic suture.","id":"HP:0011330","name":"Metopic synostosis","obsolete":false,"parents":["HP:0005556"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Metopic craniosynostosis"},{"scope":"EXACT","text":"Metopic suture craniosynostosis"}]} +{"alt_ids":[],"definition":"Unilateral atrophy of facial tissues, including muscles, bones and skin.","id":"HP:0011331","name":"Hemifacial atrophy","obsolete":false,"parents":["HP:0000324"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atrophy of half of face"},{"scope":"EXACT","text":"Atrophy of one side of the face"},{"scope":"EXACT","text":"Facial hemiatrophy"}]} +{"alt_ids":[],"definition":"Unilateral underdevelopment of the facial tissues, including muscles and bones.","id":"HP:0011332","name":"Hemifacial hypoplasia","obsolete":false,"parents":["HP:0000324"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decrease in size of half of face"},{"scope":"EXACT","text":"Decrease in size of one side of the face"},{"scope":"EXACT","text":"Decreased size of half of the face"},{"scope":"EXACT","text":"Decreased size of one side of the face"},{"scope":"RELATED","text":"Hemifacial microsomia"},{"scope":"EXACT","text":"Shrinking of half of face"},{"scope":"EXACT","text":"Shrinking of one side of the face"}]} +{"alt_ids":[],"definition":"Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side.","id":"HP:0011333","name":"Asymmetric crying face","obsolete":false,"parents":["HP:0000324"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Asymmetric crying face"},{"scope":"RELATED","text":"Hypoplasia of depressor angula oris muscle"},{"scope":"EXACT","text":"Partial unilateral facial paresis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011334","name":"Facial shape deformation","obsolete":false,"parents":["HP:0001999"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Distortion of facial shape"},{"scope":"EXACT","text":"Facial shape compression"},{"scope":"EXACT","text":"Facial shape deformation"}]} +{"alt_ids":[],"definition":"Excessive amount of hair growth on forehead.","id":"HP:0011335","name":"Frontal hirsutism","obsolete":false,"parents":["HP:0000290","HP:0009937"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hairy forehead"},{"scope":"EXACT","text":"Hirsute forehead"}]} +{"alt_ids":[],"definition":"Bilateral temporal scarlike defects, which are said to resemble forceps marks.","id":"HP:0011336","name":"Bitemporal forceps marks","obsolete":false,"parents":["HP:0000606"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bitemporal aplasia cutis congenita"},{"scope":"EXACT","text":"Congenital ectodermal dysplasia of the face"},{"scope":"EXACT","text":"Congenital, bilateral, scarlike facial lesions"},{"scope":"RELATED","text":"Focal facial dermal dysplasia"},{"scope":"RELATED","text":"Temporal skin defect"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011337","name":"Abnormality of mouth size","obsolete":false,"parents":["HP:0000163"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of mouth size"},{"scope":"EXACT","text":"Anomaly of mouth size"}]} +{"alt_ids":[],"definition":"An abnormality of the outline, configuration, or contour of the mouth.","id":"HP:0011338","name":"Abnormality of mouth shape","obsolete":false,"parents":["HP:0000163"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of mouth shape"},{"scope":"EXACT","text":"Anomaly of mouth shape"},{"scope":"NARROW","text":"Unusual mouth shape"}]} +{"alt_ids":[],"definition":"An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin.","id":"HP:0011339","name":"Abnormality of upper lip vermillion","obsolete":false,"parents":["HP:0000177"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Abnormality of the red part of the upper lip"},{"scope":"NARROW","text":"Anomaly of the upper lip vermillion"},{"scope":"NARROW","text":"Deformity of the upper lip vermillion"},{"scope":"NARROW","text":"Malformation of the upper lip vermillion"}]} +{"alt_ids":[],"definition":"Cleft of the upper lip that does not go all the way from the bottom of the upper lip until the nasal cavity.","id":"HP:0011340","name":"Incomplete cleft of the upper lip","obsolete":false,"parents":["HP:0000204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Forme fruste unilateral cleft lip"},{"scope":"EXACT","text":"Incomplete cheiloschisis"},{"scope":"EXACT","text":"Incomplete cleft of the upper lip"},{"scope":"EXACT","text":"Notched cleft of the upper lip"},{"scope":"EXACT","text":"Partial cleft of the upper lip"}]} +{"alt_ids":[],"definition":"Increased width of the upper lip.","id":"HP:0011341","name":"Long upper lip","obsolete":false,"parents":["HP:0000177"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elongation of upper lip"},{"scope":"EXACT","text":"Increased height of upper lip"},{"scope":"EXACT","text":"Increased vertical length of upper lip"},{"scope":"EXACT","text":"Long upper lip"}]} +{"alt_ids":[],"definition":"A mild delay in the achievement of motor or mental milestones in the domains of development of a child.","id":"HP:0011342","name":"Mild global developmental delay","obsolete":false,"parents":["HP:0001263"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Global developmental delay, mild"},{"scope":"RELATED","text":"Psychomotor retardation, mild"}]} +{"alt_ids":[],"definition":"A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.","id":"HP:0011343","name":"Moderate global developmental delay","obsolete":false,"parents":["HP:0001263"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Global developmental delay, moderate"},{"scope":"RELATED","text":"Psychomotor retardation, moderate"}]} +{"alt_ids":[],"definition":"A severe delay in the achievement of motor or mental milestones in the domains of development of a child.","id":"HP:0011344","name":"Severe global developmental delay","obsolete":false,"parents":["HP:0001263"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Global developmental delay, severe"},{"scope":"RELATED","text":"Severe psychomotor retardation"}]} +{"alt_ids":[],"definition":"A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.","id":"HP:0011345","name":"Moderate expressive language delay","obsolete":false,"parents":["HP:0002474"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.","id":"HP:0011346","name":"Mild expressive language delay","obsolete":false,"parents":["HP:0002474"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality involving the movement of the eye outwards.","id":"HP:0011347","name":"Abnormality of ocular abduction","obsolete":false,"parents":["HP:0000496"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural abnormality of the abducens nerve.","id":"HP:0011348","name":"Abnormal sixth cranial nerve morphology","obsolete":false,"parents":["HP:0001291"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal abducens nerve morphology"},{"scope":"EXACT","text":"Abnormality of the sixth cranial nerve"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011349","name":"obsolete Abducens palsy","obsolete":true,"parents":[],"replaced_by":["HP:0006897"],"synonyms":[]} +{"alt_ids":[],"definition":"A mild delay in the acquisition of the ability to understand the speech of others.","id":"HP:0011350","name":"Mild receptive language delay","obsolete":false,"parents":["HP:0010863"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A moderate delay in the acquisition of the ability to understand the speech of others.","id":"HP:0011351","name":"Moderate receptive language delay","obsolete":false,"parents":["HP:0010863"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A severe delay in the acquisition of the ability to understand the speech of others.","id":"HP:0011352","name":"Severe receptive language delay","obsolete":false,"parents":["HP:0010863"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries.","id":"HP:0011353","name":"Arterial intimal fibrosis","obsolete":false,"parents":["HP:0011004"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Intimal fibrosis"}]} +{"alt_ids":[],"definition":"An abnormality of the skin that is not localized to any one particular region.","id":"HP:0011354","name":"Generalized abnormality of skin","obsolete":false,"parents":["HP:0011121"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised abnormality of skin"},{"scope":"EXACT","text":"Generalized abnormality of skin"}]} +{"alt_ids":[],"definition":"A lesion of the skin that is located in a specific region rather than being generalized.","id":"HP:0011355","name":"Localized skin lesion","obsolete":false,"parents":["HP:0011121"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Localised skin lesion"},{"scope":"EXACT","text":"Localized skin lesion"}]} +{"alt_ids":[],"definition":"An abnormality of the skin that is restricted to a particular body region.","id":"HP:0011356","name":"Regional abnormality of skin","obsolete":false,"parents":["HP:0011121"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011357","name":"obsolete Abnormality of hair density","obsolete":true,"parents":[],"replaced_by":["HP:0011362"],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced pigmentation of hair diffusely.","id":"HP:0011358","name":"Generalized hypopigmentation of hair","obsolete":false,"parents":["HP:0005599"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised hypopigmentation of hair"}]} +{"alt_ids":["HP:0200077","HP:0200079","HP:0200080"],"definition":"Hair that lacks the luster (shine or gleam) of normal hair.","id":"HP:0011359","name":"Dry hair","obsolete":false,"parents":["HP:0010719"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dry hair"}]} +{"alt_ids":[],"definition":"An abnormality of the distribution of hair growth that is acquired during the course of life.","id":"HP:0011360","name":"Acquired abnormal hair pattern","obsolete":false,"parents":["HP:0010720"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acquired abnormal hair pattern"}]} +{"alt_ids":[],"definition":"A congenital abnormality of the distribution of hair growth.","id":"HP:0011361","name":"Congenital abnormal hair pattern","obsolete":false,"parents":["HP:0010720"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal hair pattern since birth"}]} +{"alt_ids":["HP:0002115","HP:0011357"],"definition":"An abnormal amount of hair.","id":"HP:0011362","name":"Abnormal hair quantity","obsolete":false,"parents":["HP:0001595"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal hair quantity"},{"scope":"EXACT","text":"Abnormality of hair density"}]} +{"alt_ids":[],"definition":"Hair whose growth rate deviates from the norm.","id":"HP:0011363","name":"Abnormality of hair growth rate","obsolete":false,"parents":["HP:0040170"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of hair growth rate"},{"scope":"EXACT","text":"Abnormality of pace of hair growth"},{"scope":"EXACT","text":"Abnormality of speed of hair growth"}]} +{"alt_ids":[],"definition":"Hypopigmented hair that appears white.","id":"HP:0011364","name":"White hair","obsolete":false,"parents":["HP:0011358"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"White hair"}]} +{"alt_ids":[],"definition":"Reduced pigmentation of hair in patches.","id":"HP:0011365","name":"Patchy hypopigmentation of hair","obsolete":false,"parents":["HP:0005599"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Yellowish discoloration of the nails.","id":"HP:0011367","name":"Yellow nails","obsolete":false,"parents":["HP:0100643"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Yellow nails"}]} +{"alt_ids":["HP:0001035"],"definition":"Thickening of the epidermal layer of the skin.","id":"HP:0011368","name":"Epidermal thickening","obsolete":false,"parents":["HP:0001072"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormality of keratinization"}]} +{"alt_ids":[],"definition":"Congenital deep dermal melanosis in the sacral area.","id":"HP:0011369","name":"Mongolian blue spot","obsolete":false,"parents":["HP:0001034"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to cutaneous fungal infections as manifested by recurrent episodes of cutaneous fungal infections.","id":"HP:0011370","name":"Recurrent cutaneous fungal infections","obsolete":false,"parents":["HP:0001581","HP:0002841"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to viral skin infections as manifested by recurrent episodes of viral skin infections.","id":"HP:0011371","name":"Recurrent viral skin infections","obsolete":false,"parents":["HP:0001581","HP:0004429"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent viral skin infections"}]} +{"alt_ids":[],"definition":"Absence of the inner ear due to a developmental defect.","id":"HP:0011372","name":"Aplasia of the inner ear","obsolete":false,"parents":["HP:0008774"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent inner ear"},{"scope":"EXACT","text":"Aplasia of the labyrinth"},{"scope":"EXACT","text":"Labyrinthine aplasia"},{"scope":"EXACT","text":"Michel deformity"}]} +{"alt_ids":[],"definition":"Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema.","id":"HP:0011373","name":"Incomplete partition of the cochlea","obsolete":false,"parents":["HP:0008554"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation.","id":"HP:0011374","name":"Incomplete partition of the cochlea type I","obsolete":false,"parents":["HP:0011373"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.","id":"HP:0011375","name":"Cochlear aplasia","obsolete":false,"parents":["HP:0011395"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent cochlea"}]} +{"alt_ids":[],"definition":"A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals.","id":"HP:0011376","name":"Abnormal morphology of the vestibule of the inner ear","obsolete":false,"parents":["HP:0011390"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Morphological abnormality of the vestibule of the inner ear"},{"scope":"EXACT","text":"Vestibular abnormality"}]} +{"alt_ids":[],"definition":"Complete absence of the vestibule of the inner ear.","id":"HP:0011377","name":"Aplasia of the vestibule","obsolete":false,"parents":["HP:0011376"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent vestibule"}]} +{"alt_ids":[],"definition":"Underdevelopment of the vestibule of the inner ear.","id":"HP:0011378","name":"Hypoplasia of the vestibule of the inner ear","obsolete":false,"parents":["HP:0011376"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Dilatation of the vestibule of the inner ear.","id":"HP:0011379","name":"Dilated vestibule of the inner ear","obsolete":false,"parents":["HP:0011376"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the morphology of the semicircular canal.","id":"HP:0011380","name":"Abnormal semicircular canal morphology","obsolete":false,"parents":["HP:0011376"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Morphological abnormality of the semicircular canal"}]} +{"alt_ids":[],"definition":"Absence of the semicircular canal.","id":"HP:0011381","name":"Aplasia of the semicircular canal","obsolete":false,"parents":["HP:0011380"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent semicircular canal"}]} +{"alt_ids":[],"definition":"Underdevelopment of the semicircular canal.","id":"HP:0011382","name":"Hypoplasia of the semicircular canal","obsolete":false,"parents":["HP:0011380"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Hypoplasia of the semicircular canals"},{"scope":"EXACT","text":"Small semicircular canal"}]} +{"alt_ids":[],"definition":"Increased size of the semicircular canal.","id":"HP:0011383","name":"Enlarged semicircular canal","obsolete":false,"parents":["HP:0011380"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dilated semicircular canal"}]} +{"alt_ids":[],"definition":"An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse.","id":"HP:0011384","name":"Abnormality of the internal auditory canal","obsolete":false,"parents":["HP:0011390"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the internal acoustic meatus"}]} +{"alt_ids":[],"definition":"Aplasia of the internal auditory canal.","id":"HP:0011385","name":"Absent internal auditory canal","obsolete":false,"parents":["HP:0011384"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduction in diameter of the internal auditory canal.","id":"HP:0011386","name":"Narrow internal auditory canal","obsolete":false,"parents":["HP:0011384"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased size of the vestibular aqueduct.","id":"HP:0011387","name":"Enlarged vestibular aqueduct","obsolete":false,"parents":["HP:0011376"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dilated vestibular aqueduct"},{"scope":"EXACT","text":"Widened vestibular aqueduct"}]} +{"alt_ids":[],"definition":"Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular.","id":"HP:0011388","name":"Enlarged cochlear aqueduct","obsolete":false,"parents":["HP:0000375"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dilated cochlear aqueduct"}]} +{"alt_ids":[],"definition":"An abnormality of the function of the inner ear.","id":"HP:0011389","name":"Functional abnormality of the inner ear","obsolete":false,"parents":["HP:0031704"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Functional abnormality of the inner ear"}]} +{"alt_ids":[],"definition":"A structural anomaly of the internal part of the ear.","id":"HP:0011390","name":"Abnormal inner ear morphology","obsolete":false,"parents":["HP:0000359"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Morphological abnormality of the inner ear"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011391","name":"Abnormal inner ear nerve morphology","obsolete":false,"parents":["HP:0011390"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Morphological abnormality of the nerves of the inner ear"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011392","name":"Abnormality of the vestibular nerve","obsolete":false,"parents":["HP:0011391"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the vestibular nerve","id":"HP:0011393","name":"Aplasia of the vestibular nerve","obsolete":false,"parents":["HP:0011392"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent cranial nerve viii"},{"scope":"EXACT","text":"Absent the eighth cranial nerve"},{"scope":"EXACT","text":"Absent vestribular nerve"},{"scope":"RELATED","text":"Aplasia of cranial nerve VIII"},{"scope":"EXACT","text":"Aplasia of the eighth cranial nerve"}]} +{"alt_ids":[],"definition":"Underdevelopment of the vestibular nerve.","id":"HP:0011394","name":"Hypoplasia of the vestibular nerve","obsolete":false,"parents":["HP:0011392"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Hypoplasia of cranial nerve VIII"},{"scope":"EXACT","text":"Hypoplasia of the eighth cranial nerve"},{"scope":"EXACT","text":"Thin vestibular nerve"}]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.","id":"HP:0011395","name":"Aplasia/Hypoplasia of the cochlea","obsolete":false,"parents":["HP:0000375","HP:0008774"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small cochlea"},{"scope":"EXACT","text":"Absent/underdeveloped cochlea"}]} +{"alt_ids":[],"definition":"Any anomaly of the cohclear nerve, which is the part of the vestibulocochlear nerve that is responsible for transmitting auditory signals from the inner ear to the cochlear nuclei within the brainstem and ultimately to the primary auditory cortex within the temporal lobe.","id":"HP:0011396","name":"Abnormality of the cochlear nerve","obsolete":false,"parents":["HP:0011391"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus.","id":"HP:0011397","name":"Abnormal spinal cord dorsal column morphology","obsolete":false,"parents":["HP:0020029"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the dorsal column of the spinal cord"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011398","name":"obsolete Central hypotonia","obsolete":true,"parents":[],"replaced_by":["HP:0001252"],"synonyms":[]} +{"alt_ids":[],"definition":"Wasting of the tibialis anterior muscle.","id":"HP:0011399","name":"Tibialis anterior muscle atrophy","obsolete":false,"parents":["HP:0008944"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sharp shin sign"},{"scope":"EXACT","text":"Tibialis anterior amyotrophy"},{"scope":"EXACT","text":"Tibialis muscle degeneration"}]} +{"alt_ids":["HP:0002520","HP:0004335"],"definition":"An abnormality of myelination of nerves in the central nervous system.","id":"HP:0011400","name":"Abnormal CNS myelination","obsolete":false,"parents":["HP:0002011","HP:0012447"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal formation of myelin sheaths"}]} +{"alt_ids":[],"definition":"Delayed myelination in the peripheral nervous system.","id":"HP:0011401","name":"Delayed peripheral myelination","obsolete":false,"parents":["HP:0003130","HP:0012448"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Demyelination of peripheral sensory nerves.","id":"HP:0011402","name":"Demyelinating sensory neuropathy","obsolete":false,"parents":["HP:0007108"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011403","name":"Abnormal umbilical cord blood vessel morphology","obsolete":false,"parents":["HP:0010881"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal umbilical cord blood vessels"}]} +{"alt_ids":[],"definition":"A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth.","id":"HP:0011404","name":"Lethal short-trunk short stature","obsolete":false,"parents":["HP:0003521"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lethal short-trunk dwarfism"}]} +{"alt_ids":["HP:0003523"],"definition":null,"id":"HP:0011405","name":"Childhood onset short-limb short stature","obsolete":false,"parents":["HP:0008873"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short-limb dwarfism identifiable during childhood"}]} +{"alt_ids":["HP:0008851"],"definition":"A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy.","id":"HP:0011406","name":"Infancy onset short-trunk short stature","obsolete":false,"parents":["HP:0003521"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short-trunk dwarfism, identifiable in infancy"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011407","name":"Proportionate tall stature","obsolete":false,"parents":["HP:0000098"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age.","id":"HP:0011408","name":"Moderate intrauterine growth retardation","obsolete":false,"parents":["HP:0001511"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix.","id":"HP:0011409","name":"Abnormal placental membrane morphology","obsolete":false,"parents":["HP:0001194"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of placental membranes"}]} +{"alt_ids":[],"definition":"Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy).","id":"HP:0011410","name":"Caesarean section","obsolete":false,"parents":["HP:0001787"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Caesarean section"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011411","name":"Forceps delivery","obsolete":false,"parents":["HP:0001787"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Forceps delivery"}]} +{"alt_ids":[],"definition":"Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labor has not progressed adequately.","id":"HP:0011412","name":"Ventouse delivery","obsolete":false,"parents":["HP:0001787"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vacuum extraction"},{"scope":"EXACT","text":"Vacuum-assisted vaginal delivery"}]} +{"alt_ids":[],"definition":"Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex.","id":"HP:0011413","name":"Shoulder dystocia","obsolete":false,"parents":["HP:0001787"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement.","id":"HP:0011414","name":"Hydropic placenta","obsolete":false,"parents":["HP:0006267"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hydrops of the placenta"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011415","name":"Calcified placenta","obsolete":false,"parents":["HP:0100767"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Placental calcification"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011416","name":"Placental infarction","obsolete":false,"parents":["HP:0100767"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Placental thromboembolism"}]} +{"alt_ids":[],"definition":"Increased length of the umbilical cord.","id":"HP:0011417","name":"Long umbilical cord","obsolete":false,"parents":["HP:0010881"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Long umbilical cord"}]} +{"alt_ids":[],"definition":"Anomalous location of the insertion of umbilical cord in the placenta. Normally, the insertion is at least two centimers distant from the edge of the placenta.","id":"HP:0011418","name":"Abnormal insertion of umbilical cord","obsolete":false,"parents":["HP:0010881"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Separation of the placenta from the uterus wall before delivery.","id":"HP:0011419","name":"Placental abruption","obsolete":false,"parents":["HP:0100767"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abruptio placentae"}]} +{"alt_ids":[],"definition":"The age group when the cessation of life happens.","id":"HP:0011420","name":"Age of death","obsolete":false,"parents":["HP:0040006"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 16 years).","id":"HP:0011421","name":"Death in adolescence","obsolete":false,"parents":["HP:0011420"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Death in adolescence"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of chloride in the blood circulation.","id":"HP:0011422","name":"Abnormal circulating chloride concentration","obsolete":false,"parents":["HP:0020330"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal blood Cl concentration"},{"scope":"EXACT","text":"Abnormal blood Cl- concentration"},{"scope":"EXACT","text":"Abnormal blood chloride concentration"},{"scope":"EXACT","text":"Abnormal chloride level"},{"scope":"EXACT","text":"Abnormality of chloride homeostasis"}]} +{"alt_ids":[],"definition":"The concentration of chloride in the blood circulation is above the upper limit of normal.","id":"HP:0011423","name":"Hyperchloremia","obsolete":false,"parents":["HP:0011422"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated chloride concentration"},{"scope":"EXACT","text":"Elevated chloride level"},{"scope":"EXACT","text":"Elevated chloride level in blood"},{"scope":"EXACT","text":"Increased chloride concentration"},{"scope":"EXACT","text":"Increased chloride level"},{"scope":"EXACT","text":"Increased chloride level in blood"}]} +{"alt_ids":[],"definition":"An increased concentration of zinc in the blood.","id":"HP:0011424","name":"Increased serum zinc","obsolete":false,"parents":["HP:0008277"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperzincemia"}]} +{"alt_ids":[],"definition":"An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders.","id":"HP:0011425","name":"Fetal ultrasound soft marker","obsolete":false,"parents":["HP:0034058"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foetal ultrasound soft marker"}]} +{"alt_ids":[],"definition":"Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637).","id":"HP:0011426","name":"Fetal choroid plexus cysts","obsolete":false,"parents":["HP:0011425","HP:0034206"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foetal choroid plexus cysts"}]} +{"alt_ids":[],"definition":"The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637).","id":"HP:0011427","name":"Enlarged fetal cisterna magna","obsolete":false,"parents":["HP:0011425","HP:0034206"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged foetal cisterna magna"}]} +{"alt_ids":[],"definition":"A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637).","id":"HP:0011428","name":"Short fetal femur length","obsolete":false,"parents":["HP:0011425","HP:0025662"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short fetal thigh bone length"},{"scope":"EXACT","text":"Short foetal femur length"},{"scope":"EXACT","text":"Short foetal thigh bone length"}]} +{"alt_ids":[],"definition":"A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637).","id":"HP:0011429","name":"Short fetal humerus length","obsolete":false,"parents":["HP:0011425","HP:0025662"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short fetal long bone in upper arm length"},{"scope":"EXACT","text":"Short foetal humerus length"},{"scope":"EXACT","text":"Short foetal long bone in upper arm length"}]} +{"alt_ids":[],"definition":"On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637).","id":"HP:0011430","name":"Hypoplasia of fetal nasal bone","obsolete":false,"parents":["HP:0011425","HP:0025662"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplasia of foetal nasal bone"},{"scope":"EXACT","text":"Underdeveloped fetal nose bone"},{"scope":"EXACT","text":"Underdeveloped foetal nose bone"}]} +{"alt_ids":[],"definition":"Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637).","id":"HP:0011431","name":"Fetal fifth finger clinodactyly","obsolete":false,"parents":["HP:0011425","HP:0025662"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Fetal little finger curvature"},{"scope":"BROAD","text":"Fetal pinkie finger curvature"},{"scope":"BROAD","text":"Fetal pinky finger curvature"},{"scope":"EXACT","text":"Foetal fifth finger clinodactyly"},{"scope":"BROAD","text":"Foetal little finger curvature"},{"scope":"BROAD","text":"Foetal pinkie finger curvature"},{"scope":"BROAD","text":"Foetal pinky finger curvature"}]} +{"alt_ids":["HP:0005984"],"definition":"Increase in the levels of maternal serum alpha-fetoprotein levels during pregnancy.","id":"HP:0011432","name":"Elevated maternal circulating alpha-fetoprotein concentration","obsolete":false,"parents":["HP:0011436"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated maternal serum alpha-fetoprotein"},{"scope":"EXACT","text":"High MSAFP MoM"},{"scope":"EXACT","text":"High maternal circulating alpha-fetoprotein concentration"},{"scope":"EXACT","text":"High maternal serum alpha-fetoprotein"},{"scope":"EXACT","text":"High maternal serum alpha-fetoprotein MoM"},{"scope":"EXACT","text":"Increased maternal serum alpha-fetoprotein level"},{"scope":"EXACT","text":"MSAFP MoM>2.5"}]} +{"alt_ids":[],"definition":"An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age.","id":"HP:0011433","name":"High maternal circulating chorionic gonadotropin concentration","obsolete":false,"parents":["HP:0011436"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High maternal serum chorionic gonadotropin"},{"scope":"EXACT","text":"High maternal serum hCG"}]} +{"alt_ids":[],"definition":"An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age.","id":"HP:0011434","name":"Low maternal circulating chorionic gonadotropin concentration","obsolete":false,"parents":["HP:0011436"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low maternal serum chorionic gonadotropin"},{"scope":"EXACT","text":"Low maternal serum hCG"}]} +{"alt_ids":[],"definition":"An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age.","id":"HP:0011435","name":"Low maternal circulating PAPP-A concentration","obsolete":false,"parents":["HP:0011436"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low maternal serum PAPP-A"}]} +{"alt_ids":[],"definition":"An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy.","id":"HP:0011436","name":"Abnormal maternal serum screening","obsolete":false,"parents":["HP:0002686"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A medical history of a fetus or child born to a mother with an autoimmune disease.","id":"HP:0011437","name":"Maternal autoimmune disease","obsolete":false,"parents":["HP:0002686"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy.","id":"HP:0011438","name":"Maternal teratogenic exposure","obsolete":false,"parents":["HP:0031437"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Rhabdomyolysis induced by anesthesia.","id":"HP:0011439","name":"Anesthetic-induced rhabdomylosis","obsolete":false,"parents":["HP:0003201"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Rhabdomyolysis induced by intake of alcohol.","id":"HP:0011440","name":"Alcohol-induced rhabdomyolysis","obsolete":false,"parents":["HP:0003201"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the medulla oblongata, the lower half of the brainstem.","id":"HP:0011441","name":"Abnormal medulla oblongata morphology","obsolete":false,"parents":["HP:0002363","HP:0011282"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the medulla oblongata"},{"scope":"EXACT","text":"Abnormality of the myencephalon"}]} +{"alt_ids":[],"definition":"An anomaly of the control or production of movement in the central nervous system.","id":"HP:0011442","name":"Abnormal central motor function","obsolete":false,"parents":["HP:0012638"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of central motor function"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011443","name":"Abnormality of coordination","obsolete":false,"parents":["HP:0011442"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of coordination"},{"scope":"EXACT","text":"Coordination issue"}]} +{"alt_ids":[],"definition":"A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus.","id":"HP:0011444","name":"Decorticate rigidity","obsolete":false,"parents":["HP:0002063"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone.","id":"HP:0011445","name":"Athetoid cerebral palsy","obsolete":false,"parents":["HP:0002071","HP:0100021"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Dyskinetic cerebral palsy"}]} +{"alt_ids":[],"definition":"Cognitive, psychiatric, or memory anomaly.","id":"HP:0011446","name":"Abnormality of mental function","obsolete":false,"parents":["HP:0012638"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of higher mental function"}]} +{"alt_ids":[],"definition":"Hyposegmented (hypolobulated) or bilobed neutrophil nuclei.","id":"HP:0011447","name":"Hyposegmentation of neutrophil nuclei","obsolete":false,"parents":["HP:0011992"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyposegmentation of neutrophil nuclei in peripheral blood"},{"scope":"RELATED","text":"Pelger-Huet anomaly"}]} +{"alt_ids":["HP:0002541"],"definition":"Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.","id":"HP:0011448","name":"Ankle clonus","obsolete":false,"parents":["HP:0002169","HP:0034674"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal rhythmic movements of ankle"}]} +{"alt_ids":["HP:0002325"],"definition":"Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes.","id":"HP:0011449","name":"Knee clonus","obsolete":false,"parents":["HP:0002169"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Patellar clonus"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infections of the central nervous system, as manifested by recurrent, severe, or invasive infections involving the brain, meninges, or spinal cord. This can include infections caused by opportunistic or atypical pathogens, or common pathogens presenting with unusual severity or in anatomical locations.","id":"HP:0011450","name":"Unusual CNS infection","obsolete":false,"parents":["HP:0002011","HP:0032158"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Central nervous system infection"}]} +{"alt_ids":[],"definition":"Head circumference below 2 standard deviations below the mean for age and gender at birth.","id":"HP:0011451","name":"Primary microcephaly","obsolete":false,"parents":["HP:0000252"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital decreased head circumference"},{"scope":"EXACT","text":"Congenital microcephaly"},{"scope":"BROAD","text":"Congenital small head"},{"scope":"BROAD","text":"Congenital small head circumference"},{"scope":"EXACT","text":"Congenital small skull"},{"scope":"EXACT","text":"Decreased head circumference present at birth"},{"scope":"RELATED","text":"Head circumference small for gestational age"},{"scope":"EXACT","text":"Microcephaly present at birth"},{"scope":"EXACT","text":"Small cranium present at birth"},{"scope":"BROAD","text":"Small head circumference present at birth"},{"scope":"BROAD","text":"Small head present at birth"},{"scope":"BROAD","text":"Small skull present at birth"}]} +{"alt_ids":[],"definition":"An abnormality of the function of the middle ear.","id":"HP:0011452","name":"Functional abnormality of the middle ear","obsolete":false,"parents":["HP:0000370"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Functional abnormality of the middle ear"}]} +{"alt_ids":[],"definition":"An abnormality of the incus, an ossicle in the middle ear.","id":"HP:0011453","name":"Abnormal incus morphology","obsolete":false,"parents":["HP:0004452"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the incus"}]} +{"alt_ids":[],"definition":"An abnormality of the malleus, an ossicle in the middle ear.","id":"HP:0011454","name":"Abnormal malleus morphology","obsolete":false,"parents":["HP:0004452"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the malleus"}]} +{"alt_ids":[],"definition":"Aplasia of the malleus.","id":"HP:0011455","name":"Absent malleus","obsolete":false,"parents":["HP:0011454"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Aplasia of the stapes.","id":"HP:0011456","name":"Absent stapes","obsolete":false,"parents":["HP:0008628"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This term refers to the loss of eyelashes that were previously present.","id":"HP:0011457","name":"Loss of eyelashes","obsolete":false,"parents":["HP:0000499"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ciliary Madarosis"},{"scope":"EXACT","text":"Eyelashes fell out"},{"scope":"EXACT","text":"Loss of eyelashes"},{"scope":"EXACT","text":"Milphosis"},{"scope":"EXACT","text":"Missing eyelashes"}]} +{"alt_ids":[],"definition":"A subjective manifestation of disease localized to the abdomen.","id":"HP:0011458","name":"Abdominal symptom","obsolete":false,"parents":["HP:0025032"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a carcinoma of the esophagus.","id":"HP:0011459","name":"Esophageal carcinoma","obsolete":false,"parents":["HP:0100751"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation).","id":"HP:0011460","name":"Embryonal onset","obsolete":false,"parents":["HP:0030674"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks).","id":"HP:0011461","name":"Fetal onset","obsolete":false,"parents":["HP:0030674"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foetal onset"}]} +{"alt_ids":[],"definition":"Onset of disease at the age of between 16 and 40 years.","id":"HP:0011462","name":"Young adult onset","obsolete":false,"parents":["HP:0003581"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0003586","HP:0003617"],"definition":"Onset of disease at the age of between 1 and 5 years.","id":"HP:0011463","name":"Childhood onset","obsolete":false,"parents":["HP:0410280"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Symptoms begin in childhood"}]} +{"alt_ids":[],"definition":"A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine.","id":"HP:0011464","name":"Aganglionosis of the small intestine","obsolete":false,"parents":["HP:0004362"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum.","id":"HP:0011465","name":"Duodenal aganglionosis","obsolete":false,"parents":["HP:0011464"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the gallbladder.","id":"HP:0011466","name":"Aplasia/Hypoplasia of the gallbladder","obsolete":false,"parents":["HP:0012437"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small gallbladder"},{"scope":"EXACT","text":"Absent/underdeveloped gallbladder"}]} +{"alt_ids":[],"definition":"A developmental defect in which the gallbladder fails to form.","id":"HP:0011467","name":"Absent gallbladder","obsolete":false,"parents":["HP:0011466"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent gallbladder"},{"scope":"EXACT","text":"Agenesis of the gallbladder"},{"scope":"EXACT","text":"Aplasia of the gallbladder"}]} +{"alt_ids":[],"definition":"Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face.","id":"HP:0011468","name":"Facial tics","obsolete":false,"parents":["HP:0005324"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cramping of facial muscles"},{"scope":"EXACT","text":"Facial spasms"},{"scope":"EXACT","text":"Facial tics"},{"scope":"RELATED","text":"Involuntary facial muscle spasms"},{"scope":"EXACT","text":"Jerking of facial muscles"},{"scope":"EXACT","text":"Mimic spasms"},{"scope":"RELATED","text":"Muscle spasm of face"},{"scope":"BROAD","text":"Myoclonus of facial muscles"},{"scope":"EXACT","text":"Spasms of facial muscles"},{"scope":"EXACT","text":"Twitching of facial muscles"}]} +{"alt_ids":[],"definition":"Regurgitation of milk through the nose.","id":"HP:0011469","name":"Nasal regurgitation","obsolete":false,"parents":["HP:0008872"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Feeding problem necessitating nasogastric tube feeding.","id":"HP:0011470","name":"Nasogastric tube feeding in infancy","obsolete":false,"parents":["HP:0008872","HP:0033454"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Feeding problem necessitating gastrostomy tube feeding.","id":"HP:0011471","name":"Gastrostomy tube feeding in infancy","obsolete":false,"parents":["HP:0008872","HP:0033454"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"PEG-fed in infancy"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011472","name":"Abnormal small intestinal villus morphology","obsolete":false,"parents":["HP:0025129"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of small intestinal villus"},{"scope":"EXACT","text":"Abnormality of small intestinal villus morphology"}]} +{"alt_ids":[],"definition":"The enteric villi are atrophic or absent.","id":"HP:0011473","name":"Villous atrophy","obsolete":false,"parents":["HP:0011472"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atrophy of small intestinal villi"},{"scope":"RELATED","text":"Biopsy shows villous atrophy"},{"scope":"RELATED","text":"Duodenal villous atrophy"},{"scope":"RELATED","text":"Small intestine biopsy shows villous atrophy"},{"scope":"RELATED","text":"Variable degree of villous atrophy"},{"scope":"EXACT","text":"Villous degeneration"}]} +{"alt_ids":[],"definition":"Sensorineural hearing impairment with childhood onset.","id":"HP:0011474","name":"Childhood onset sensorineural hearing impairment","obsolete":false,"parents":["HP:0000407"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Persistence of the stapedial artery, which normally regresses during embryonic life.","id":"HP:0011475","name":"Persistent stapedial artery","obsolete":false,"parents":["HP:0008609"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Complete loss of hearing related to a sensorineural defect.","id":"HP:0011476","name":"Profound sensorineural hearing impairment","obsolete":false,"parents":["HP:0000407","HP:0012715"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Profound sensorineural hearing loss"}]} +{"alt_ids":[],"definition":"In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient.","id":"HP:0011477","name":"Upbeat nystagmus","obsolete":false,"parents":["HP:0010544"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination.","id":"HP:0011478","name":"True anophthalmia","obsolete":false,"parents":["HP:0000528"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complete anophthalmia"},{"scope":"EXACT","text":"Complete anophthalmos"},{"scope":"EXACT","text":"Completely missing eyeball"},{"scope":"EXACT","text":"Total anophthalmia"},{"scope":"EXACT","text":"Total anophthalmos"}]} +{"alt_ids":[],"definition":"An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid.","id":"HP:0011479","name":"Abnormal lacrimal punctum morphology","obsolete":false,"parents":["HP:0000614"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the lacrimal punctum"}]} +{"alt_ids":[],"definition":"A developmental anomaly characterized by abnormal smallness of one eye.","id":"HP:0011480","name":"Unilateral microphthalmos","obsolete":false,"parents":["HP:0000568"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormally small eyeball on one side"},{"scope":"NARROW","text":"Unilateral nanophthalmos"}]} +{"alt_ids":[],"definition":"An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac.","id":"HP:0011481","name":"Abnormal lacrimal duct morphology","obsolete":false,"parents":["HP:0000614"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the lacrimal canaliculus"},{"scope":"EXACT","text":"Abnormality of the lacrimal duct"}]} +{"alt_ids":[],"definition":"Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye.","id":"HP:0011482","name":"Abnormal lacrimal gland morphology","obsolete":false,"parents":["HP:0000614"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the lacrimal gland"}]} +{"alt_ids":[],"definition":"Adhesions between the iris and the cornea.","id":"HP:0011483","name":"Anterior synechiae of the anterior chamber","obsolete":false,"parents":["HP:0007833"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anterior synechiae"},{"scope":"EXACT","text":"Cornea-iris adhesion"},{"scope":"EXACT","text":"Iridocorneal adhesions"},{"scope":"EXACT","text":"Iridocorneal synechia"}]} +{"alt_ids":[],"definition":"Adhesions between the iris and the lens.","id":"HP:0011484","name":"Posterior synechiae of the anterior chamber","obsolete":false,"parents":["HP:0007833"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Iridolenticular adhesions"},{"scope":"EXACT","text":"Posterior synechiae"}]} +{"alt_ids":[],"definition":"Developmental abnormality in which the lens and cornea are not separated.","id":"HP:0011485","name":"Corneolenticular adhesion","obsolete":false,"parents":["HP:0000593"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal anteroposterior thickness of the cornea.","id":"HP:0011486","name":"Abnormal corneal thickness","obsolete":false,"parents":["HP:0000481"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of corneal thickness"}]} +{"alt_ids":[],"definition":"A increased anteroposterior thickness of the cornea.","id":"HP:0011487","name":"Increased corneal thickness","obsolete":false,"parents":["HP:0011486"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea.","id":"HP:0011488","name":"Abnormal corneal endothelium morphology","obsolete":false,"parents":["HP:0000481"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of corneal endothelium"}]} +{"alt_ids":[],"definition":"Abnormal migration of corneal endothelium.","id":"HP:0011489","name":"Abnormal migration of corneal endothelium","obsolete":false,"parents":["HP:0011488"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium.","id":"HP:0011490","name":"Abnormal Descemet membrane morphology","obsolete":false,"parents":["HP:0011488"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of Descemet's membrane"}]} +{"alt_ids":[],"definition":"A reduction in the number of corneal endothelial cells.","id":"HP:0011491","name":"Reduced number of corneal endothelial cells","obsolete":false,"parents":["HP:0011488"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the stroma of cornea, also known as the substantia propria of cornea.","id":"HP:0011492","name":"Abnormal corneal stroma morphology","obsolete":false,"parents":["HP:0000481"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of corneal stroma"}]} +{"alt_ids":[],"definition":"Reduced transparency of the central portion of the corneal stroma.","id":"HP:0011493","name":"Central opacification of the cornea","obsolete":false,"parents":["HP:0007759"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Generalized reduced transparency of the stroma of the cornea.","id":"HP:0011494","name":"Generalized opacification of the cornea","obsolete":false,"parents":["HP:0007759"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised opacification of the cornea"}]} +{"alt_ids":[],"definition":"Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea.","id":"HP:0011495","name":"Abnormal corneal epithelium morphology","obsolete":false,"parents":["HP:0000481"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of corneal epithelium"}]} +{"alt_ids":[],"definition":"Ingrowth of new blood vessels into the cornea.","id":"HP:0011496","name":"Corneal neovascularization","obsolete":false,"parents":["HP:0000481"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Corneal neovascularisation"},{"scope":"NARROW","text":"Corneal pannus"},{"scope":"EXACT","text":"Corneal vascularization"},{"scope":"EXACT","text":"Limbal neovascularization"},{"scope":"EXACT","text":"New blood vessel formation in cornea"}]} +{"alt_ids":["HP:0025319"],"definition":"Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification.","id":"HP:0011497","name":"Rubeosis iridis","obsolete":false,"parents":["HP:0007905"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Iris neovascularization"},{"scope":"EXACT","text":"Neovascularization of the iris"},{"scope":"EXACT","text":"New blood vessel formation in iris"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011498","name":"obsolete Partial aniridia","obsolete":true,"parents":[],"replaced_by":["HP:0000526"],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal dilatation of the iris.","id":"HP:0011499","name":"Mydriasis","obsolete":false,"parents":["HP:0007686"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dilated pupil"}]} +{"alt_ids":[],"definition":"Multiple pupils.","id":"HP:0011500","name":"Polycoria","obsolete":false,"parents":["HP:0000615"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multiple pupils"}]} +{"alt_ids":[],"definition":"A conical projection of the anterior surface of the lens, occurring as a developmental anomaly.","id":"HP:0011501","name":"Anterior lenticonus","obsolete":false,"parents":["HP:0001142"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A conical projection of the posterior surface of the lens, occurring as a developmental anomaly.","id":"HP:0011502","name":"Posterior lenticonus","obsolete":false,"parents":["HP:0001142"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Congenital absence of the fovea.","id":"HP:0011503","name":"Aplasia of the fovea","obsolete":false,"parents":["HP:0008060"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent fovea"}]} +{"alt_ids":[],"definition":"Progressive maculopathy characterized by concentric regions of hyper- and hypopigmentation, with an initial foveal sparing and whose appearance is said to resemble the central target of a dart board.","id":"HP:0011504","name":"Bull's eye maculopathy","obsolete":false,"parents":["HP:0008002"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cystoid thickening of the retina that takes place due to accumulation of extracellular fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Histological studies show that radially orientated cystoid spaces consisting of ophthalmoscopically clear fluid are often clinically detectable in the macula area.","id":"HP:0011505","name":"Cystoid macular edema","obsolete":false,"parents":["HP:0040049"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Choroidal neovascularization (CNV) is the inward growth of new blood vessels arising from the choriocapillaris. Depending on the stage of development, they can be external (type 1 NV) or internal (type 2 NV) to the retinal pigment epithelium.","id":"HP:0011506","name":"Choroidal neovascularization","obsolete":false,"parents":["HP:0000610","HP:0001103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Choroidal neovascular membrane"}]} +{"alt_ids":[],"definition":"Pale, often indistinct, multiple lesions of the macula, of variable shape that is not round. The lesions can be notched, angular, or pisciform (said to resemble a fish).","id":"HP:0011507","name":"Macular flecks","obsolete":false,"parents":["HP:0030500"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A macular hole is a full thickness gap in the macula, located in the center of the retina.","id":"HP:0011508","name":"Macular hole","obsolete":false,"parents":["HP:0001103"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased amount of pigmentation in the macula.","id":"HP:0011509","name":"Macular hyperpigmentation","obsolete":false,"parents":["HP:0008002"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in the Bruch membrane of the eye.","id":"HP:0011510","name":"Drusen","obsolete":false,"parents":["HP:0030506"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Splitting of the retina in the macular region.","id":"HP:0011511","name":"Macular schisis","obsolete":false,"parents":["HP:0030502"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased pigmentation of the fundus","id":"HP:0011512","name":"Fundus hyperpigmentation","obsolete":false,"parents":["HP:0031605"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperpigmentation of the fundus"},{"scope":"EXACT","text":"Hyperpigmented fundi"},{"scope":"EXACT","text":"Hyperpigmented fundus"}]} +{"alt_ids":["HP:0030508"],"definition":"A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous hemangioma are described as having a 'cluster of grapes' appearance.","id":"HP:0011513","name":"Retinal cavernous hemangioma","obsolete":false,"parents":["HP:0007797"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Retinal cavernous angioma"},{"scope":"EXACT","text":"Retinal cavernous haemangioma"}]} +{"alt_ids":[],"definition":"An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth.","id":"HP:0011514","name":"Abnormality of binocular vision","obsolete":false,"parents":["HP:0000504"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head.","id":"HP:0011515","name":"Abnormal stereopsis","obsolete":false,"parents":["HP:0011514"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult.","id":"HP:0011516","name":"Achromatopsia","obsolete":false,"parents":["HP:0007803"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rod monochromacy"},{"scope":"EXACT","text":"Rod monochromatism"}]} +{"alt_ids":[],"definition":"The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors.","id":"HP:0011517","name":"Cone monochromacy","obsolete":false,"parents":["HP:0007803"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Individuals affected by dichromacy possess only two types of cones, instead of three.","id":"HP:0011518","name":"Dichromacy","obsolete":false,"parents":["HP:0007641"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones.","id":"HP:0011519","name":"Anomalous trichromacy","obsolete":false,"parents":["HP:0007641"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green.","id":"HP:0011520","name":"Deuteranomaly","obsolete":false,"parents":["HP:0000642","HP:0011519"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deuteranomoly"},{"scope":"EXACT","text":"Green-weak"}]} +{"alt_ids":[],"definition":"Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green.","id":"HP:0011521","name":"Deuteranopia","obsolete":false,"parents":["HP:0000642","HP:0011518"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Green-blind"}]} +{"alt_ids":[],"definition":"Blue and green cones only; no functional red cones.","id":"HP:0011522","name":"Protanopia","obsolete":false,"parents":["HP:0000642","HP:0011518"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Red-blind"}]} +{"alt_ids":[],"definition":"An iris cyst is composed of a single cell layer of epithelium and is filled with fluid.","id":"HP:0011523","name":"Iris cyst","obsolete":false,"parents":["HP:0000525"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Malignant tumor of melanocytes affecting the iris.","id":"HP:0011524","name":"Iris melanoma","obsolete":false,"parents":["HP:0000525","HP:0007716"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated.","id":"HP:0011525","name":"Iris nevus","obsolete":false,"parents":["HP:0000525"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eye freckle"}]} +{"alt_ids":[],"definition":"An abnormal shape of the lens.","id":"HP:0011526","name":"Abnormality of lens shape","obsolete":false,"parents":["HP:0000517"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of lens shape"}]} +{"alt_ids":[],"definition":"Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging.","id":"HP:0011527","name":"Lentiglobus","obsolete":false,"parents":["HP:0011526"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Bulging of eye lens"}]} +{"alt_ids":[],"definition":"Sharply demarcated hyperpigmentation of the retinal pigment epithelium (RPE) that is congenital and of no functional significance.","id":"HP:0011528","name":"Solitary congenital hypertrophy of retinal pigment epithelium","obsolete":false,"parents":["HP:0007649"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Single isolated CHRPE"},{"scope":"EXACT","text":"Single isolated congenital hypertrophy of retinal pigment epithelium"}]} +{"alt_ids":[],"definition":"Unilateral or bilateral small, well-demarcated pigmented lesions localized in the retinal pigment epithelium (RPE). Lesions are dark in the center, with a pale circumference and are mostly located in the periphery.","id":"HP:0011529","name":"Multiple congenital hypertrophy of retinal pigment epithelium","obsolete":false,"parents":["HP:0007649"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multiple bilateral CHRPE"},{"scope":"EXACT","text":"Multiple bilateral congenital hypertrophy of retinal pigment epithelium"}]} +{"alt_ids":[],"definition":"A full-thickness defect in the retina.","id":"HP:0011530","name":"Retinal hole","obsolete":false,"parents":["HP:0011958"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Retinal holes"}]} +{"alt_ids":[],"definition":"Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity.","id":"HP:0011531","name":"Vitritis","obsolete":false,"parents":["HP:0004327"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyalitis"},{"scope":"EXACT","text":"Vitreitis"}]} +{"alt_ids":[],"definition":"A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium.","id":"HP:0011532","name":"Subretinal exudate","obsolete":false,"parents":["HP:0001147"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous.","id":"HP:0011533","name":"Snowflake vitreoretinal degeneration","obsolete":false,"parents":["HP:0007769","HP:0007773"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Snowflake retinal degeneration"}]} +{"alt_ids":[],"definition":"Abnormality of the spatial relationship of the cardiac segments to other components of the heart.","id":"HP:0011534","name":"Abnormal spatial orientation of the cardiac segments","obsolete":false,"parents":["HP:0001627"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormality of the spatial relationship of the atria to other components of the heart.","id":"HP:0011535","name":"Abnormal atrial arrangement","obsolete":false,"parents":["HP:0005120","HP:0011534"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal location of heart atrium"}]} +{"alt_ids":[],"definition":"Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest.","id":"HP:0011536","name":"Right atrial isomerism","obsolete":false,"parents":["HP:0011535","HP:0031855"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest.","id":"HP:0011537","name":"Left atrial isomerism","obsolete":false,"parents":["HP:0011535","HP:0031854"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side.","id":"HP:0011538","name":"Atrial situs inversus","obsolete":false,"parents":["HP:0011535"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Common atrium without defining morphologic features.","id":"HP:0011539","name":"Atrial situs ambiguous","obsolete":false,"parents":["HP:0011535"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atrial heterotaxy"},{"scope":"EXACT","text":"Atrial situs ambiguus"}]} +{"alt_ids":["HP:0011605","HP:0031349"],"definition":"Congenitally corrected transposition of the great arteries (ccTGA) is a discordance of atrioventricular (AV) and ventriculoarterial connections. The anatomy of ccTGA involves systemic venous drainage to the morphologic right atrium (mRA), which is connected via the mitral valve to the morphologic left ventricle (mLV) whose outflow is the pulmonary arterial system. The pulmonary venous drainage arrives at the morphologic left atrium (mLA), which crosses the tricuspid valve into the morphologic right ventricle (mRV) with outflow into the systemic arterial system. In isolation, ccTGA has an in-series circulation without mixing; therefore, the presence or absence of associated defects dictates the patient's clinical presentation.","id":"HP:0011540","name":"Levotransposition of the great arteries","obsolete":false,"parents":["HP:0001669","HP:0011534"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atrioventricular and ventriculo-arterial discordance"},{"scope":"EXACT","text":"Congenitally corrected TGA"},{"scope":"EXACT","text":"Congenitally corrected transposition of the great arteries"},{"scope":"EXACT","text":"Discordant atrioventricular a ventriculo-arterial connections"},{"scope":"EXACT","text":"L-TGA"},{"scope":"RELATED","text":"L-transposition"},{"scope":"EXACT","text":"L-transposition of the great arteries"},{"scope":"EXACT","text":"Physiologically corrected transposition of the great vessels"},{"scope":"RELATED","text":"Ventricular inversion"},{"scope":"EXACT","text":"cTGA"},{"scope":"EXACT","text":"cTGV"},{"scope":"EXACT","text":"ccTGA"},{"scope":"EXACT","text":"ccTGV"}]} +{"alt_ids":[],"definition":"Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis.","id":"HP:0011541","name":"Criss-cross atrioventricular valves","obsolete":false,"parents":["HP:0011534"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side.","id":"HP:0011542","name":"Criss-cross atrioventricular valves with superior-inferior ventricles","obsolete":false,"parents":["HP:0011541"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011543","name":"Superior-inferior ventricles without criss-cross atrioventricular valves","obsolete":false,"parents":["HP:0011534"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011544","name":"L-looping of the right ventricle","obsolete":false,"parents":["HP:0011534"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviance in the normal connections between two cardiac segments.","id":"HP:0011545","name":"Abnormal connection of the cardiac segments","obsolete":false,"parents":["HP:0001627"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal connexion of the cardiac segments"},{"scope":"EXACT","text":"Discordant connection of the cardiac segments"}]} +{"alt_ids":[],"definition":"An abnormality of the circulatory connection between atria and ventricles.","id":"HP:0011546","name":"Abnormal atrioventricular connection","obsolete":false,"parents":["HP:0011545"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal atrioventricular connexion"}]} +{"alt_ids":[],"definition":"A defect where there is no connection between the left atrium and left ventricle.","id":"HP:0011547","name":"Absent left sided atrioventricular connection","obsolete":false,"parents":["HP:0011546"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent left sided atrioventricular connexion"}]} +{"alt_ids":[],"definition":"A defect where there is no connection between the right atrium and right ventricle.","id":"HP:0011548","name":"Absent right sided atrioventricular connection","obsolete":false,"parents":["HP:0011546"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent right sided atrioventricular connexion"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011549","name":"Univentricular heart with absent left sided atrioventricular connection","obsolete":false,"parents":["HP:0011547"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Univentricular heart with absent left sided atrioventricular connexion"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011550","name":"Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection","obsolete":false,"parents":["HP:0011547"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011551","name":"Right sided atrium to left ventricle and absent left sided atrioventricular connection","obsolete":false,"parents":["HP:0011547"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Right sided atrium to left ventricle and absent left sided atrioventricular connexion"}]} +{"alt_ids":[],"definition":"With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle).","id":"HP:0011552","name":"Ambiguous atrioventricular connection","obsolete":false,"parents":["HP:0011546"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ambiguous atrioventricular connexion"}]} +{"alt_ids":[],"definition":"Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart.","id":"HP:0011553","name":"Discordant atrioventricular connection","obsolete":false,"parents":["HP:0011546"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Discordant atrioventricular connexion"}]} +{"alt_ids":[],"definition":"The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve.","id":"HP:0011554","name":"Double inlet atrioventricular connection","obsolete":false,"parents":["HP:0011546"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Double inlet atrioventricular connexion"}]} +{"alt_ids":[],"definition":"The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual.","id":"HP:0011555","name":"Double inlet left ventricle","obsolete":false,"parents":["HP:0001750","HP:0011554"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic.","id":"HP:0011556","name":"Double inlet right ventricle","obsolete":false,"parents":["HP:0001750","HP:0011554"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle.","id":"HP:0011557","name":"Double inlet to single ventricle of indeterminate morphology","obsolete":false,"parents":["HP:0001750","HP:0011554"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011558","name":"Double inlet to single ventricle with common atrioventricular orifice","obsolete":false,"parents":["HP:0011557"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011559","name":"Double inlet to single ventricle with two atrioventricular valves","obsolete":false,"parents":["HP:0011557"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital defect with failure to open of the mitral valve orifice.","id":"HP:0011560","name":"Mitral atresia","obsolete":false,"parents":["HP:0001633","HP:0011546"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mitral valve atresia"}]} +{"alt_ids":[],"definition":"An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect.","id":"HP:0011561","name":"Overriding atrioventricular valve","obsolete":false,"parents":["HP:0011546"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect.","id":"HP:0011562","name":"Straddling atrioventricular valve","obsolete":false,"parents":["HP:0011546"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta.","id":"HP:0011563","name":"Abnormal ventriculoarterial connection","obsolete":false,"parents":["HP:0011545"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal ventriculo-arterial connection"},{"scope":"EXACT","text":"Abnormal ventriculoarterial connexion"}]} +{"alt_ids":[],"definition":"Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle.","id":"HP:0011564","name":"Mitral valve arcade","obsolete":false,"parents":["HP:0001633"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hammock mitral valve"}]} +{"alt_ids":[],"definition":"Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.","id":"HP:0011565","name":"Common atrium","obsolete":false,"parents":["HP:0005120"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Single atrium"}]} +{"alt_ids":[],"definition":"A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue.","id":"HP:0011566","name":"Cor triatriatum dexter","obsolete":false,"parents":["HP:0010774"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cor triatriatum dextrum"}]} +{"alt_ids":[],"definition":"An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting.","id":"HP:0011567","name":"Sinus venosus atrial septal defect","obsolete":false,"parents":["HP:0001631"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue.","id":"HP:0011568","name":"Double orifice mitral valve","obsolete":false,"parents":["HP:0001633"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect.","id":"HP:0011569","name":"Cleft anterior mitral valve leaflet","obsolete":false,"parents":["HP:0031480"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Mitral stenosis with congenital onset.","id":"HP:0011570","name":"Congenital mitral stenosis","obsolete":false,"parents":["HP:0001718"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles.","id":"HP:0011571","name":"Parachute mitral valve","obsolete":false,"parents":["HP:0025523"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve.","id":"HP:0011572","name":"Supramitral ring","obsolete":false,"parents":["HP:0001633"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Membranous supravalvular mitral stenosis"},{"scope":"EXACT","text":"Supravalvular mitral ring"}]} +{"alt_ids":[],"definition":"Congenital defect characterized by underdevelopment of the tricuspid valve.","id":"HP:0011573","name":"Hypoplastic tricuspid valve","obsolete":false,"parents":["HP:0001702"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tricuspid valve hypoplasia"},{"scope":"EXACT","text":"Underdeveloped tricuspid valve"}]} +{"alt_ids":[],"definition":"An atrioventricular valve that has failed to open (atretic).","id":"HP:0011574","name":"Imperforate atrioventricular valve","obsolete":false,"parents":["HP:0006705"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unopened atrioventricular valve"}]} +{"alt_ids":[],"definition":"A tricuspid valve that has failed to open.","id":"HP:0011575","name":"Imperforate tricuspid valve","obsolete":false,"parents":["HP:0001702","HP:0011574"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unopened tricuspid valve"}]} +{"alt_ids":[],"definition":"A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices.","id":"HP:0011576","name":"Intermediate atrioventricular canal defect","obsolete":false,"parents":["HP:0006695"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intermediate atrioventricular septal defect"}]} +{"alt_ids":[],"definition":"A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices.","id":"HP:0011577","name":"Partial atrioventricular canal defect","obsolete":false,"parents":["HP:0006695"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Incomplete AVSD"},{"scope":"EXACT","text":"Incomplete atrioventricular septal defect"},{"scope":"EXACT","text":"PAVSD"},{"scope":"EXACT","text":"Partial AVC defect"},{"scope":"EXACT","text":"Partial AVSD"},{"scope":"EXACT","text":"Partial atrioventricular septal defect"}]} +{"alt_ids":[],"definition":"A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices.","id":"HP:0011578","name":"Transitional atrioventricular canal defect","obsolete":false,"parents":["HP:0006695"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced).","id":"HP:0011579","name":"Unbalanced atrioventricular canal defect","obsolete":false,"parents":["HP:0006695"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"AVC defect unbalanced"},{"scope":"EXACT","text":"AVC unbalanced"},{"scope":"EXACT","text":"Unbalanced AVC"},{"scope":"EXACT","text":"Unbalanced AVC defect"},{"scope":"EXACT","text":"Unbalanced AVSD"},{"scope":"EXACT","text":"Unbalanced atrioventricular septal defect"}]} +{"alt_ids":[],"definition":"Abnormally short chordae tendineae of the mitral valve.","id":"HP:0011580","name":"Short chordae tendineae of the mitral valve","obsolete":false,"parents":["HP:0025523"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle.","id":"HP:0011581","name":"Double outlet left ventricle","obsolete":false,"parents":["HP:0001711"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Displacement of the heart outside the thoracic cavity and into the abdomen.","id":"HP:0011582","name":"Abdominal ectopia cordis","obsolete":false,"parents":["HP:0001683"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum.","id":"HP:0011583","name":"Cervical ectopia cordis","obsolete":false,"parents":["HP:0001683"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum.","id":"HP:0011584","name":"Thoracocervical ectopia cordis","obsolete":false,"parents":["HP:0001683"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum.","id":"HP:0011585","name":"Thoracic ectopia cordis","obsolete":false,"parents":["HP:0001683"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity.","id":"HP:0011586","name":"Thoracoabdominal ectopia cordis","obsolete":false,"parents":["HP:0001683"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries.","id":"HP:0011587","name":"Abnormal branching pattern of the aortic arch","obsolete":false,"parents":["HP:0012303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta.","id":"HP:0011588","name":"Cervical aortic arch","obsolete":false,"parents":["HP:0011587"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The left common carotid artery has a common origin with the innominate artery.","id":"HP:0011589","name":"Common origin of the right brachiocephalic artery and left common carotid artery","obsolete":false,"parents":["HP:0011587"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Bovine arch"},{"scope":"EXACT","text":"Common brachiocephalic trunk"},{"scope":"RELATED","text":"Ovine arch"}]} +{"alt_ids":[],"definition":"A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor).","id":"HP:0011590","name":"Double aortic arch","obsolete":false,"parents":["HP:0011587"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011591","name":"Left aortic arch with cervical origin of the right subclavian artery","obsolete":false,"parents":["HP:0031055"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis.","id":"HP:0011592","name":"Left aortic arch with isolated subclavian artery","obsolete":false,"parents":["HP:0031055"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A patent ductus arteriosus or ductal ligament completes the ring.","id":"HP:0011593","name":"Left aortic arch with retroesophageal diverticulum of Kommerell","obsolete":false,"parents":["HP:0031055"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Kommerell diverticulum"}]} +{"alt_ids":[],"definition":"Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch.","id":"HP:0011594","name":"Right aortic arch with retroesophageal diverticulum of Kommerell","obsolete":false,"parents":["HP:0012020"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body.","id":"HP:0011595","name":"Left aortic arch with retroesophageal right subclavian artery","obsolete":false,"parents":["HP:0031055"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The ring may be completed by the ductal ligament.","id":"HP:0011596","name":"Left aortic arch with right descending aorta and right ductus arteriosus","obsolete":false,"parents":["HP:0031055"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011597","name":"Right aortic arch with left descending aorta and left ductus arteriosus","obsolete":false,"parents":["HP:0012020"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011598","name":"Right aortic arch with retroesophageal left subclavian artery","obsolete":false,"parents":["HP:0012020"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Right aortic arch with aberrant left subclavian artery"},{"scope":"EXACT","text":"Right aortic arch with anomalous left subclavian artery"}]} +{"alt_ids":[],"definition":"Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane.","id":"HP:0011599","name":"Mesocardia","obsolete":false,"parents":["HP:0004307"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal plane of direction of the heart from the base to the apex. Left sided is normal.","id":"HP:0011600","name":"Abnormal direction of ventricular apex","obsolete":false,"parents":["HP:0004307"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal.","id":"HP:0011601","name":"Rightward direction of ventricular apex","obsolete":false,"parents":["HP:0011600"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal.","id":"HP:0011602","name":"Midline direction of ventricular apex","obsolete":false,"parents":["HP:0011600"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Defect or defects of the morphogenesis of the aorta and pulmonary arteries.","id":"HP:0011603","name":"Congenital malformation of the great arteries","obsolete":false,"parents":["HP:0030962"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt.","id":"HP:0011604","name":"Aortopulmonary window","obsolete":false,"parents":["HP:0011603"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011605","name":"obsolete Congenitally corrected transposition of the great arteries with ventricular septal defect","obsolete":true,"parents":[],"replaced_by":["HP:0011540"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011606","name":"obsolete Transposition of the great arteries with intact ventricular septum","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011607","name":"obsolete Transposition of the great arteries with ventricular septal defect","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus.","id":"HP:0011608","name":"Type II truncus arteriosus","obsolete":false,"parents":["HP:0001660"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Persistent truncus arteriosus type II"},{"scope":"EXACT","text":"Type 2 truncus arteriosus"}]} +{"alt_ids":[],"definition":"Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta.","id":"HP:0011609","name":"Type III truncus arteriosus","obsolete":false,"parents":["HP:0001660"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Persistent truncus arteriosus type III"},{"scope":"EXACT","text":"Type 3 truncus arteriosus"}]} +{"alt_ids":[],"definition":"Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present.","id":"HP:0011610","name":"Type IV truncus arteriosus","obsolete":false,"parents":["HP:0001660"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Persistent truncus arteriosus type IV"},{"scope":"EXACT","text":"Type 4 truncus arteriosus"}]} +{"alt_ids":["HP:0006680"],"definition":"Non-continuity of the arch of aorta with an atretic point or absent segment.","id":"HP:0011611","name":"Interrupted aortic arch","obsolete":false,"parents":["HP:0012303"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Aortic arch obstruction"},{"scope":"EXACT","text":"Atretic transverse aortic arch"}]} +{"alt_ids":[],"definition":"Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus.","id":"HP:0011612","name":"Interrupted aortic arch type A","obsolete":false,"parents":["HP:0011611"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries.","id":"HP:0011613","name":"Interrupted aortic arch type B","obsolete":false,"parents":["HP:0011611"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Interrupted aortic arch, type b"}]} +{"alt_ids":[],"definition":"Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries.","id":"HP:0011614","name":"Interrupted aortic arch type C","obsolete":false,"parents":["HP:0011611"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi.","id":"HP:0011615","name":"Abnormal pulmonary situs morphology","obsolete":false,"parents":["HP:4000059"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of pulmonary situs"}]} +{"alt_ids":[],"definition":"Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus.","id":"HP:0011616","name":"Pulmonary situs inversus","obsolete":false,"parents":["HP:0011615"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same.","id":"HP:0011617","name":"Pulmonary situs ambiguus","obsolete":false,"parents":["HP:0011615"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung.","id":"HP:0011618","name":"Pulmonary situs ambiguus with bilateral morphologic right lungs","obsolete":false,"parents":["HP:0011617"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung.","id":"HP:0011619","name":"Pulmonary situs ambiguus with bilateral morphologic left lungs","obsolete":false,"parents":["HP:0011617"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs.","id":"HP:0011620","name":"Abnormality of abdominal situs","obsolete":false,"parents":["HP:0002012","HP:0030853"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve.","id":"HP:0011621","name":"Gerbode ventricular septal defect","obsolete":false,"parents":["HP:0001629"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Left ventricular - right atrial communication"}]} +{"alt_ids":[],"definition":"A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus.","id":"HP:0011622","name":"Inlet ventricular septal defect","obsolete":false,"parents":["HP:0001629"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atrioventricular canal type ventricular septal defect"},{"scope":"EXACT","text":"Type 3 ventricular septal defect"}]} +{"alt_ids":[],"definition":"The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle.","id":"HP:0011623","name":"Muscular ventricular septal defect","obsolete":false,"parents":["HP:0001629"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Type 4 ventricular septal defect"},{"scope":"RELATED","text":"Ventricular septal defect, muscular"}]} +{"alt_ids":[],"definition":"A muscular ventricular septal defect located at the apex of the heart.","id":"HP:0011624","name":"Apical muscular ventricular septal defect","obsolete":false,"parents":["HP:0011623"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum.","id":"HP:0011625","name":"Multiple muscular ventricular septal defects","obsolete":false,"parents":["HP:0011623"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Swiss cheese ventricular septal defect"}]} +{"alt_ids":[],"definition":"Right pulmonary venous return to the inferior vena cava.","id":"HP:0011626","name":"Scimitar anomaly","obsolete":false,"parents":["HP:0010773"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pulmonary venolobar syndrome"},{"scope":"EXACT","text":"Scimitar syndrome"}]} +{"alt_ids":[],"definition":"Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle.","id":"HP:0011627","name":"Aorto-ventricular tunnel","obsolete":false,"parents":["HP:0001679"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect of the pericardium with congenital onset.","id":"HP:0011628","name":"Congenital defect of the pericardium","obsolete":false,"parents":["HP:0001697"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy.","id":"HP:0011629","name":"Total absence of the pericardium","obsolete":false,"parents":["HP:0011628"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent pericardium"},{"scope":"EXACT","text":"Congenital absence of the pericardium"}]} +{"alt_ids":[],"definition":"No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.","id":"HP:0011630","name":"Complete diaphragmatic absence of pericardium","obsolete":false,"parents":["HP:0011628"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy.","id":"HP:0011631","name":"Complete right sided absence of pericardium","obsolete":false,"parents":["HP:0011628"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital anomaly with lack of part of the pericardium on the righthand side of the heart.","id":"HP:0011632","name":"Partial right sided absence of pericardium","obsolete":false,"parents":["HP:0011628"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart.","id":"HP:0011633","name":"Complete left sided absence of pericardium","obsolete":false,"parents":["HP:0011628"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent lining around of left side of heart"}]} +{"alt_ids":[],"definition":"A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart.","id":"HP:0011634","name":"Partial left sided absence of pericardium","obsolete":false,"parents":["HP:0011628"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.","id":"HP:0011635","name":"Partial diaphragmatic absence of pericardium","obsolete":false,"parents":["HP:0011628"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries.","id":"HP:0011636","name":"Abnormal coronary artery origin","obsolete":false,"parents":["HP:0006704"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta.","id":"HP:0011637","name":"Anomalous origin of coronary artery from the pulmonary artery","obsolete":false,"parents":["HP:0011636"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve.","id":"HP:0011638","name":"Anomalous origin of left coronary artery from the pulmonary artery","obsolete":false,"parents":["HP:0011637"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ALCAPA"},{"scope":"EXACT","text":"Anomalous left coronary artery from the pulmonary artery"},{"scope":"EXACT","text":"Bland-Garland-White syndrome"}]} +{"alt_ids":[],"definition":"Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve.","id":"HP:0011639","name":"Anomalous origin of right coronary artery from the pulmonary artery","obsolete":false,"parents":["HP:0011637"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a single coronary artery ostium from which both coronary arteries arise.","id":"HP:0011640","name":"Single coronary artery origin","obsolete":false,"parents":["HP:0011636"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel.","id":"HP:0011641","name":"Coronary artery fistula","obsolete":false,"parents":["HP:0011686"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Coronary fistula"}]} +{"alt_ids":[],"definition":"An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium.","id":"HP:0011642","name":"Abnormal coronary sinus morphology","obsolete":false,"parents":["HP:0005120"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the coronary sinus"}]} +{"alt_ids":["HP:0031297"],"definition":"An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus. There is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes.","id":"HP:0011643","name":"Coronary sinus atrial septal defect","obsolete":false,"parents":["HP:0001631","HP:0011642"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unroofed coronary sinus"}]} +{"alt_ids":[],"definition":"A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus.","id":"HP:0011644","name":"Coronary sinus diverticulum","obsolete":false,"parents":["HP:0011642"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Diverticulum of the coronary sinus"}]} +{"alt_ids":[],"definition":"Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve.","id":"HP:0011645","name":"Dilatation of the sinus of Valsalva","obsolete":false,"parents":["HP:0004970"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Aneurysm of the aortic sinus"},{"scope":"EXACT","text":"Aortic sinus aneurysm"},{"scope":"NARROW","text":"Sinus of Valsalva aneurysm"}]} +{"alt_ids":[],"definition":"Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch.","id":"HP:0011646","name":"Juxtaductal coarctation of the aorta","obsolete":false,"parents":["HP:0012305"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch.","id":"HP:0011647","name":"Postductal coarctation of the aorta","obsolete":false,"parents":["HP:0012305"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Postductal aortic coarctation"}]} +{"alt_ids":[],"definition":"Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater.","id":"HP:0011648","name":"Patent ductus arteriosus after birth at term","obsolete":false,"parents":["HP:0001643"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation.","id":"HP:0011649","name":"Patent ductus arteriosus after premature birth","obsolete":false,"parents":["HP:0001643"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of both a left and a right ductus arteriosus.","id":"HP:0011650","name":"Bilateral ductus arteriosus","obsolete":false,"parents":["HP:0001643"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bilateral ductus botalli"}]} +{"alt_ids":[],"definition":"A double outlet right ventricle with a subaortic ventricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.","id":"HP:0011651","name":"Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis","obsolete":false,"parents":["HP:0001719"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"DORV with doubly committed VSD and pulmonary stenosis"}]} +{"alt_ids":[],"definition":"A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.","id":"HP:0011652","name":"Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis","obsolete":false,"parents":["HP:0001719"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"DORV with doubly committed VSD"},{"scope":"EXACT","text":"Double outlet right ventricle, doubly committed ventricular septal defect"}]} +{"alt_ids":[],"definition":"A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.","id":"HP:0011653","name":"Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis","obsolete":false,"parents":["HP:0001719"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"DORV with non-committed VSD and pulmonary stenosis"}]} +{"alt_ids":[],"definition":"A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.","id":"HP:0011654","name":"Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis","obsolete":false,"parents":["HP:0001719"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"DORV with non-committed VSD without pulmonary stenosis"},{"scope":"EXACT","text":"Double outlet right ventricle, noncommitted ventricular septal defect"}]} +{"alt_ids":[],"definition":"A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.","id":"HP:0011655","name":"Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis","obsolete":false,"parents":["HP:0001719"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"DORV with subaortic VSD and pulmonary stenosis"}]} +{"alt_ids":[],"definition":"A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.","id":"HP:0011656","name":"Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis","obsolete":false,"parents":["HP:0001719"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"DORV with subaortic VSD without pulmonary stenosis"}]} +{"alt_ids":[],"definition":"A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.","id":"HP:0011657","name":"Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis","obsolete":false,"parents":["HP:0001719"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"DORV with subpulmonary VSD and pulmonary stenosis"}]} +{"alt_ids":[],"definition":"A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.","id":"HP:0011658","name":"Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis","obsolete":false,"parents":["HP:0001719"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"DORV with subpulmonary VSD without pulmonary stenosis"},{"scope":"EXACT","text":"Taussig-Bing anomaly"}]} +{"alt_ids":[],"definition":"Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue.","id":"HP:0011659","name":"Tetralogy of Fallot with absent pulmonary valve","obsolete":false,"parents":["HP:0001636","HP:0005134"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tetralogy of Fallot with absent pulmonary valve syndrome"}]} +{"alt_ids":[],"definition":"Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle.","id":"HP:0011660","name":"Anomalous origin of one pulmonary artery from ascending aorta","obsolete":false,"parents":["HP:0030966"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hemitruncus"}]} +{"alt_ids":[],"definition":"The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.","id":"HP:0011661","name":"Anomalous origin of left pulmonary artery from ascending aorta","obsolete":false,"parents":["HP:0011660"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle.","id":"HP:0011662","name":"Tricuspid atresia","obsolete":false,"parents":["HP:0001702"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tricuspid valve atresia"}]} +{"alt_ids":[],"definition":"Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.","id":"HP:0011663","name":"Right ventricular cardiomyopathy","obsolete":false,"parents":["HP:0001638","HP:0001707"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Cardiomyopathy, esp. right ventricular"},{"scope":"EXACT","text":"Cardiomyopathy, right ventricular"}]} +{"alt_ids":[],"definition":"Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.","id":"HP:0011664","name":"Left ventricular noncompaction cardiomyopathy","obsolete":false,"parents":["HP:0012817"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Left ventricular non-compaction cardiomyopathy"}]} +{"alt_ids":[],"definition":"Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation.","id":"HP:0011665","name":"Takotsubo cardiomyopathy","obsolete":false,"parents":["HP:0001638"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broken-heart syndrome"}]} +{"alt_ids":[],"definition":"Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium.","id":"HP:0011666","name":"Absent right superior vena cava","obsolete":false,"parents":["HP:0005301"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011667","name":"Bilateral superior vena cava with bridging vein","obsolete":false,"parents":["HP:0033379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011668","name":"Bilateral superior vena cava with no bridging vein","obsolete":false,"parents":["HP:0033379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt.","id":"HP:0011669","name":"Left superior vena cava draining directly to the left atrium","obsolete":false,"parents":["HP:0033379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence.","id":"HP:0011670","name":"Left superior vena cava draining to coronary sinus","obsolete":false,"parents":["HP:0033379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava.","id":"HP:0011671","name":"Interrupted inferior vena cava with azygous continuation","obsolete":false,"parents":["HP:0025576"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber.","id":"HP:0011672","name":"Cardiac myxoma","obsolete":false,"parents":["HP:0100544"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium.","id":"HP:0011673","name":"Cardiac hemangioma","obsolete":false,"parents":["HP:0410266"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumor size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone.","id":"HP:0011674","name":"Cardiac teratoma","obsolete":false,"parents":["HP:0009792","HP:0100544"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001656","HP:0001661","HP:0001665","HP:0001666","HP:0001675","HP:0001687","HP:0001721","HP:0004351","HP:0005158"],"definition":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.","id":"HP:0011675","name":"Arrhythmia","obsolete":false,"parents":["HP:0030956"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal heart rate"},{"scope":"EXACT","text":"Arrhythmias"},{"scope":"EXACT","text":"Cardiac arrhythmia"},{"scope":"EXACT","text":"Cardiac arrhythmias"},{"scope":"EXACT","text":"Cardiac rhythm disturbances"},{"scope":"EXACT","text":"Heart rhythm disorders"},{"scope":"EXACT","text":"Irregular heart beat"},{"scope":"EXACT","text":"Irregular heartbeat"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011676","name":"Tetralogy of Fallot with absent subarterial conus","obsolete":false,"parents":["HP:0001636"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011677","name":"Tetralogy of Fallot with atrioventricular canal defect","obsolete":false,"parents":["HP:0001636"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA).","id":"HP:0011678","name":"Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries","obsolete":false,"parents":["HP:0012516"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus.","id":"HP:0011679","name":"Tetralogy of Fallot with pulmonary stenosis","obsolete":false,"parents":["HP:0001636"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011680","name":"Single ventricle of indeterminate morphology","obsolete":false,"parents":["HP:0001750"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum.","id":"HP:0011681","name":"Subarterial ventricular septal defect","obsolete":false,"parents":["HP:0001629"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Conal ventricular septal defect"},{"scope":"EXACT","text":"Doubly committed ventricular septal defect"},{"scope":"EXACT","text":"Infundibular ventricular septal defect"},{"scope":"EXACT","text":"Supracristal ventricular septal defect"},{"scope":"EXACT","text":"Type 1 ventricular septal defect"}]} +{"alt_ids":[],"definition":"A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.","id":"HP:0011682","name":"Perimembranous ventricular septal defect","obsolete":false,"parents":["HP:0001629"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Conoventricular ventricular septal defect"},{"scope":"EXACT","text":"Membranous ventricular septal defect"},{"scope":"EXACT","text":"Paramembranous ventricular septal defect"},{"scope":"EXACT","text":"Perimembraneous ventricular septal defect"},{"scope":"EXACT","text":"Type 2 ventricular septal defect"},{"scope":"RELATED","text":"Ventricular septal defect, perimembranous"}]} +{"alt_ids":[],"definition":"Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD.","id":"HP:0011683","name":"Restrictive ventricular septal defect","obsolete":false,"parents":["HP:0001629"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD.","id":"HP:0011684","name":"Non-restrictive ventricular septal defect","obsolete":false,"parents":["HP:0001629"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The superior vena cava passes below the aortic arch.","id":"HP:0011685","name":"Infra-aortic superior vena cava","obsolete":false,"parents":["HP:0025575"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal path of a coronary artery.","id":"HP:0011686","name":"Abnormal coronary artery course","obsolete":false,"parents":["HP:0006704"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Anomalous coronary artery course"}]} +{"alt_ids":[],"definition":"A type of supraventricular tachycardia that originates in the atrioventricular node.","id":"HP:0011687","name":"AV nodal tachycardia","obsolete":false,"parents":["HP:0004755"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atrioventricular nodal tachycardia"}]} +{"alt_ids":[],"definition":"Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism.","id":"HP:0011688","name":"Supraventricular tachycardia with an accessory connection mediated pathway","obsolete":false,"parents":["HP:0004755"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atrioventricular re-entry tachycardia"},{"scope":"EXACT","text":"Supraventricular tachycardia with an accessory connexion mediated pathway"}]} +{"alt_ids":[],"definition":"Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed because it is not seen on the ECG during sinus rhythm.","id":"HP:0011689","name":"Supraventricular tachycardia with a concealed accessory connection","obsolete":false,"parents":["HP:0011688"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Supraventricular tachycardia with a concealed accessory connexion"}]} +{"alt_ids":[],"definition":"An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction.","id":"HP:0011690","name":"Permanent junctional reciprocating tachycardia","obsolete":false,"parents":["HP:0011689"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011691","name":"Supraventricular tachycardia with a concealed accessory pathway on the left free wall","obsolete":false,"parents":["HP:0011689"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011692","name":"Supraventricular tachycardia with a concealed accessory pathway on the right free wall","obsolete":false,"parents":["HP:0011689"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011693","name":"Supraventricular tachycardia with a concealed accessory pathway on the septum","obsolete":false,"parents":["HP:0011689"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011694","name":"Supraventricular tachycardia with a manifest accessory pathway","obsolete":false,"parents":["HP:0011688"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hemorrhage into the parenchyma of the cerebellum.","id":"HP:0011695","name":"Cerebellar hemorrhage","obsolete":false,"parents":["HP:0002170"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cerebellar haemorrhage"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011696","name":"Supraventricular tachycardia with a manifest accessory pathway on the left free wall","obsolete":false,"parents":["HP:0011694"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011697","name":"Supraventricular tachycardia with a manifest accessory pathway on the right free wall","obsolete":false,"parents":["HP:0011694"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011698","name":"Supraventricular tachycardia with a manifest accessory pathway on the septum","obsolete":false,"parents":["HP:0011694"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011699","name":"Atrial reentry tachycardia","obsolete":false,"parents":["HP:0001692"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Chronic supraventricular tachycardia predominantly seen in childhood.","id":"HP:0011700","name":"Automatic atrial tachycardia","obsolete":false,"parents":["HP:0001692"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.","id":"HP:0011701","name":"Multifocal atrial tachycardia","obsolete":false,"parents":["HP:0001692"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chaotic atrial tachycardia"},{"scope":"EXACT","text":"Ectopic atrial tachycardia"}]} +{"alt_ids":[],"definition":"An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart.","id":"HP:0011702","name":"Abnormal electrophysiology of sinoatrial node origin","obsolete":false,"parents":["HP:0011675"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Heart rate of greater than 100 beats per minute.","id":"HP:0011703","name":"Sinus tachycardia","obsolete":false,"parents":["HP:0001649","HP:0011702"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sinus tach"},{"scope":"EXACT","text":"Sinus tachy"}]} +{"alt_ids":[],"definition":"An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress.","id":"HP:0011704","name":"Sick sinus syndrome","obsolete":false,"parents":["HP:0011702","HP:0012722"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sinoatrial node disease"}]} +{"alt_ids":[],"definition":"Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles.","id":"HP:0011705","name":"First degree atrioventricular block","obsolete":false,"parents":["HP:0001678"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction.","id":"HP:0011706","name":"Second degree atrioventricular block","obsolete":false,"parents":["HP:0001678"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals).","id":"HP:0011707","name":"Mobitz I atrioventricular block","obsolete":false,"parents":["HP:0011706"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mobitz type 1 atrioventricular block"},{"scope":"EXACT","text":"Wenckebach block"}]} +{"alt_ids":[],"definition":"A type of second degree atrioventricular (AV) block characterized by sudden failure to conduct an impulse through the AV node without a preceding change in the PR interval.","id":"HP:0011708","name":"Mobitz II atrioventricular block","obsolete":false,"parents":["HP:0011706"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mobitz type 2 atrioventricular block"}]} +{"alt_ids":[],"definition":"Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance.","id":"HP:0011709","name":"Atrioventricular dissociation","obsolete":false,"parents":["HP:0005150"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches.","id":"HP:0011710","name":"Bundle branch block","obsolete":false,"parents":["HP:0012722"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bundle-branch block"}]} +{"alt_ids":[],"definition":"Conduction block in the anterior division of the left bundle branch of the bundle of His.","id":"HP:0011711","name":"Left anterior fascicular block","obsolete":false,"parents":["HP:0011713"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Left anterior hemiblock"}]} +{"alt_ids":[],"definition":"A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.","id":"HP:0011712","name":"Complete right bundle branch block","obsolete":false,"parents":["HP:0011710"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Right bundle branch block"},{"scope":"EXACT","text":"Right bundle-branch block"}]} +{"alt_ids":[],"definition":"A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.","id":"HP:0011713","name":"Left bundle branch block","obsolete":false,"parents":["HP:0011710"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve.","id":"HP:0011714","name":"Libman-Sacks lesions","obsolete":false,"parents":["HP:0100584"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal conduction in all three divisions of the intraventricular conducting tissue.","id":"HP:0011715","name":"Trifascicular block","obsolete":false,"parents":["HP:0011710"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern.","id":"HP:0011716","name":"Junctional ectopic tachycardia","obsolete":false,"parents":["HP:0011687"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove.","id":"HP:0011717","name":"Atrioventricular reentrant tachycardia","obsolete":false,"parents":["HP:0011687"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"AV nodal reentry tachycardia"}]} +{"alt_ids":[],"definition":"An abnormality of the pulmonary veins.","id":"HP:0011718","name":"Abnormality of the pulmonary veins","obsolete":false,"parents":["HP:0004930"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of lung veins"}]} +{"alt_ids":[],"definition":"Type 1 total anomalous pulmonary venous connection.","id":"HP:0011719","name":"Supracardiac total anomalous pulmonary venous connection","obsolete":false,"parents":["HP:0005160"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Supracardiac total anomalous pulmonary venous connexion"},{"scope":"EXACT","text":"Total anomalous pulmonary venous connection, supracardiac"},{"scope":"EXACT","text":"Type 1 total anomalous pulmonary venous connection"}]} +{"alt_ids":[],"definition":"Type 2 total anomalous pulmonary venous connection.","id":"HP:0011720","name":"Cardiac total anomalous pulmonary venous connection","obsolete":false,"parents":["HP:0005160"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cardiac total anomalous pulmonary venous connexion"},{"scope":"EXACT","text":"Total anomalous pulmonary venous connection, intracardiac"},{"scope":"EXACT","text":"Type 2 total anomalous pulmonary venous connection"}]} +{"alt_ids":[],"definition":"Type 3 total anomalous pulmonary venous connection.","id":"HP:0011721","name":"Infracardiac total anomalous pulmonary venous connection","obsolete":false,"parents":["HP:0005160"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Infracardiac total anomalous pulmonary venous connexion"},{"scope":"EXACT","text":"Type 3 total anomalous pulmonary venous connection"}]} +{"alt_ids":[],"definition":"Type 4 total anomalous pulmonary venous connection.","id":"HP:0011722","name":"Mixed total anomalous pulmonary venous connection","obsolete":false,"parents":["HP:0005160"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mixed total anomalous pulmonary venous connexion"},{"scope":"EXACT","text":"Total anomalous pulmonary venous connection, mixed"},{"scope":"EXACT","text":"Type 4 total anomalous pulmonary venous connection"}]} +{"alt_ids":[],"definition":"Defect or defects of the morphogenesis of the right heart identifiable at birth.","id":"HP:0011723","name":"Congenital malformation of the right heart","obsolete":false,"parents":["HP:0001627"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium.","id":"HP:0011724","name":"Uhl's anomaly","obsolete":false,"parents":["HP:0011723"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011725","name":"Chaotic multifocal atrial tachycardia","obsolete":false,"parents":["HP:0001692"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course.","id":"HP:0011726","name":"Persistent fetal circulation","obsolete":false,"parents":["HP:0034190"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Persistent foetal circulation"}]} +{"alt_ids":[],"definition":"Weakness of the peroneal muscles.","id":"HP:0011727","name":"Peroneal muscle weakness","obsolete":false,"parents":["HP:0009053"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fibularis muscle weakness"}]} +{"alt_ids":[],"definition":"Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint.","id":"HP:0011728","name":"Elbow clonus","obsolete":false,"parents":["HP:0002169"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality in the range and ease of motion of joints across their normal range.","id":"HP:0011729","name":"Abnormality of joint mobility","obsolete":false,"parents":["HP:0034430"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord.","id":"HP:0011730","name":"Abnormal central sensory function","obsolete":false,"parents":["HP:0012638"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of central sensory function"}]} +{"alt_ids":[],"definition":"An abnormality of the concentration of cortisol in the blood.","id":"HP:0011731","name":"Abnormality of circulating cortisol level","obsolete":false,"parents":["HP:0012111"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the adrenal glands.","id":"HP:0011732","name":"Abnormal adrenal morphology","obsolete":false,"parents":["HP:0000834","HP:0031071"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of adrenal morphology"}]} +{"alt_ids":["HP:0002855"],"definition":"A functional abnormality of the adrenal glands.","id":"HP:0011733","name":"Abnormality of adrenal physiology","obsolete":false,"parents":["HP:0000834"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected.","id":"HP:0011734","name":"Central adrenal insufficiency","obsolete":false,"parents":["HP:0000846"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Secondary adrenal insufficiency"}]} +{"alt_ids":[],"definition":"Adrenal insufficiency secondary to a defect in ACTH production.","id":"HP:0011735","name":"Adrenocorticotropin deficient adrenal insufficiency","obsolete":false,"parents":["HP:0011734"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ACTH deficient adrenal insufficiency"}]} +{"alt_ids":[],"definition":"A form of hyperaldosteronism caused by a defect within the adrenal gland.","id":"HP:0011736","name":"Primary hyperaldosteronism","obsolete":false,"parents":["HP:0000859"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production.","id":"HP:0011737","name":"Corticotropin-releasing hormone deficient adrenal insufficiency","obsolete":false,"parents":["HP:0011734"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CRH deficient adrenal insufficiency"},{"scope":"EXACT","text":"Tertiary adrenal insufficiency"}]} +{"alt_ids":[],"definition":"Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor.","id":"HP:0011738","name":"Corticotropin-releasing hormone receptor defect","obsolete":false,"parents":["HP:0011734"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CRHR defect"},{"scope":"RELATED","text":"Corticotropin-releasing hormone receptor (CRHR) resistance"}]} +{"alt_ids":[],"definition":"A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone.","id":"HP:0011739","name":"Dexamethasone-suppressible primary hyperaldosteronism","obsolete":false,"parents":["HP:0011736"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Familial primary hyperaldosteronism type 1"},{"scope":"RELATED","text":"Glucocorticoid-remediable familial primary aldosteronism"}]} +{"alt_ids":[],"definition":"A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids.","id":"HP:0011740","name":"Glucocortocoid-insensitive primary hyperaldosteronism","obsolete":false,"parents":["HP:0011736"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Familial primary hyperaldosteronism type 2"}]} +{"alt_ids":[],"definition":"A form of hyperaldosteronism caused by abnormally increased renin levels.","id":"HP:0011741","name":"Secondary hyperaldosteronism","obsolete":false,"parents":["HP:0000859"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperreninemic hyperaldosteronism"}]} +{"alt_ids":[],"definition":"Abnormal anatomical location of the adrenal gland.","id":"HP:0011742","name":"Ectopic adrenal gland","obsolete":false,"parents":["HP:0011732"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal adrenal gland position"}]} +{"alt_ids":[],"definition":"Absent development of the adrenal gland.","id":"HP:0011743","name":"Adrenal gland agenesis","obsolete":false,"parents":["HP:0008216"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Adrenal agenesis"},{"scope":"EXACT","text":"Congenital absence of the adrenal glands"}]} +{"alt_ids":[],"definition":"Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol.","id":"HP:0011744","name":"Secondary hypercortisolism","obsolete":false,"parents":["HP:0003118"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"ACTH-dependent hypercortisolemia"}]} +{"alt_ids":[],"definition":"An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones.","id":"HP:0011745","name":"Non-secretory adrenocortical adenoma","obsolete":false,"parents":["HP:0008256"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Non-secretory adrenal adenoma"}]} +{"alt_ids":[],"definition":"An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones.","id":"HP:0011746","name":"Secretory adrenocortical adenoma","obsolete":false,"parents":["HP:0008256"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Secretory adrenal adenoma"}]} +{"alt_ids":[],"definition":"An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.","id":"HP:0011747","name":"Abnormality of the anterior pituitary","obsolete":false,"parents":["HP:0012503"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Pituitary disease"}]} +{"alt_ids":[],"definition":"A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol.","id":"HP:0011748","name":"Adrenocorticotropic hormone deficiency","obsolete":false,"parents":["HP:0000830"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ACTH deficiency"},{"scope":"EXACT","text":"Corticotropin deficiency"}]} +{"alt_ids":[],"definition":"Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex.","id":"HP:0011749","name":"Adrenocorticotropic hormone excess","obsolete":false,"parents":["HP:0010514"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ACTH excess"}]} +{"alt_ids":[],"definition":"A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.","id":"HP:0011750","name":"Neoplasm of the anterior pituitary","obsolete":false,"parents":["HP:0011747","HP:0040277"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neoplasm of the adenohypophysis"},{"scope":"EXACT","text":"Neoplasm of the pars anterior"}]} +{"alt_ids":[],"definition":"An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis.","id":"HP:0011751","name":"Abnormal posterior pituitary morphogenesis","obsolete":false,"parents":["HP:0012503"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the neurohypophysis"},{"scope":"EXACT","text":"Abnormality of the posterior pituitary"}]} +{"alt_ids":[],"definition":"The presence of a neoplasm (tumor) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis.","id":"HP:0011752","name":"Neoplasm of the posterior pituitary","obsolete":false,"parents":["HP:0011751"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neoplasm of the neurohypophysis"}]} +{"alt_ids":[],"definition":"Abnormal development of the neurohypophysis during embryonic growth and development.","id":"HP:0011753","name":"Posterior pituitary dysgenesis","obsolete":false,"parents":["HP:0011751"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neurohypophysis dysplasia"},{"scope":"EXACT","text":"Posterior pituitary dysplasia"}]} +{"alt_ids":[],"definition":"A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern.","id":"HP:0011754","name":"Pituicytoma","obsolete":false,"parents":["HP:0011752"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis.","id":"HP:0011755","name":"Ectopic posterior pituitary","obsolete":false,"parents":["HP:0011753"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ectopic neurohypophysis"},{"scope":"EXACT","text":"Ectopic posterior pituitary lobe"}]} +{"alt_ids":[],"definition":"Absence of the neurohypophysis owing to a developmental defect.","id":"HP:0011756","name":"Posterior pituitary agenesis","obsolete":false,"parents":["HP:0011753"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neurohypophysis agenesis"}]} +{"alt_ids":[],"definition":"Underdevelopment of the neurohypophysis.","id":"HP:0011757","name":"Posterior pituitary hypoplasia","obsolete":false,"parents":["HP:0011753"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neurohypophysis hypoplasia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011758","name":"Pituitary acidophilic stem cell adenoma","obsolete":false,"parents":["HP:0002893"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of pituitary adenoma that produces gonadotropins.","id":"HP:0011759","name":"Pituitary gonadotropic cell adenoma","obsolete":false,"parents":["HP:0002893"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pituitary gonadotropinoma"}]} +{"alt_ids":[],"definition":"A type of pituitary adenoma that produces growth hormone.","id":"HP:0011760","name":"Pituitary growth hormone cell adenoma","obsolete":false,"parents":["HP:0002893"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pituitary somatotropinoma"}]} +{"alt_ids":[],"definition":"A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess.","id":"HP:0011761","name":"Pituitary null cell adenoma","obsolete":false,"parents":["HP:0002893"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Clinically silent pituitary adenoma"},{"scope":"EXACT","text":"Hormonally silent pituitary adenoma"},{"scope":"EXACT","text":"Non-functional pituitary adenoma"},{"scope":"EXACT","text":"Silent pituitary adenoma"}]} +{"alt_ids":[],"definition":"A type of pituitary adenoma that produces thyroid stimulating hormone (TSH).","id":"HP:0011762","name":"Pituitary thyrotropic cell adenoma","obsolete":false,"parents":["HP:0002893"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pituitary thyrotropinoma"}]} +{"alt_ids":[],"definition":"A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS.","id":"HP:0011763","name":"Pituitary carcinoma","obsolete":false,"parents":["HP:0011750"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular.","id":"HP:0011764","name":"Pituitary spindle cell oncocytoma","obsolete":false,"parents":["HP:0011750"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011765","name":"obsolete Ectopic anterior pituitary","obsolete":true,"parents":[],"replaced_by":["HP:0012731"],"synonyms":[]} +{"alt_ids":[],"definition":"A structural abnormality of the parathyroid gland.","id":"HP:0011766","name":"Abnormal parathyroid morphology","obsolete":false,"parents":["HP:0000828"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the parathyroid morphology"}]} +{"alt_ids":[],"definition":"A functional abnormality of the parathyroid gland.","id":"HP:0011767","name":"Abnormality of the parathyroid physiology","obsolete":false,"parents":["HP:0000828"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Parathyroid dysfunction"},{"scope":"BROAD","text":"Parathyroid issue"}]} +{"alt_ids":[],"definition":"Abnormal embryonic development of the parathyroid gland.","id":"HP:0011768","name":"Parathyroid dysgenesis","obsolete":false,"parents":["HP:0011766"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal anatomical location of the parathyroid gland.","id":"HP:0011769","name":"Ectopic parathyroid","obsolete":false,"parents":["HP:0011768"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism.","id":"HP:0011770","name":"Tertiary hyperparathyroidism","obsolete":false,"parents":["HP:0000843"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity.","id":"HP:0011771","name":"Autoimmune hypoparathyroidism","obsolete":false,"parents":["HP:0000829","HP:0002960"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural abnormality of the thyroid gland.","id":"HP:0011772","name":"Abnormal thyroid morphology","obsolete":false,"parents":["HP:0000820"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of thyroid gland"},{"scope":"EXACT","text":"Abnormality of thyroid morphology"}]} +{"alt_ids":[],"definition":"Enlargement of the thyroid gland related to a singular nodule in the thyroid gland.","id":"HP:0011773","name":"Uninodular goiter","obsolete":false,"parents":["HP:0005994"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uninodular goitre"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011774","name":"Thyroid follicular adenoma","obsolete":false,"parents":["HP:0000854"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011775","name":"Thyroid macrofollicular adenoma","obsolete":false,"parents":["HP:0011774"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011776","name":"Thyroid microfollicular adenoma","obsolete":false,"parents":["HP:0011774"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011777","name":"Thyroid papillary adenoma","obsolete":false,"parents":["HP:0000854"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011778","name":"Thyroid atypical adenoma","obsolete":false,"parents":["HP:0000854"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011779","name":"Anaplastic thyroid carcinoma","obsolete":false,"parents":["HP:0002890"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of a lobe of the thyroid gland related to a failure of its embryologic development.","id":"HP:0011780","name":"Thyroid hemiagenesis","obsolete":false,"parents":["HP:0033079"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal growth of parafollicular (C-cells) cells.","id":"HP:0011781","name":"Thyroid C cell hyperplasia","obsolete":false,"parents":["HP:0008249"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011782","name":"Thyroid crisis","obsolete":false,"parents":["HP:0000836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011783","name":"Thyrotoxicosis from ectopic thyroid tissue","obsolete":false,"parents":["HP:0000836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011784","name":"Thyrotoxicosis with diffuse goiter","obsolete":false,"parents":["HP:0000836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011785","name":"Thyrotoxicosis with toxic multinodular goiter","obsolete":false,"parents":["HP:0000836"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thyrotoxicosis with toxic multinodular goitre"}]} +{"alt_ids":[],"definition":null,"id":"HP:0011786","name":"Thyrotoxicosis with toxic single thyroid nodule","obsolete":false,"parents":["HP:0000836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects.","id":"HP:0011787","name":"Central hypothyroidism","obsolete":false,"parents":["HP:0000821"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.","id":"HP:0011788","name":"Increased circulating free T3","obsolete":false,"parents":["HP:0032209"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased circulating free triiodothyronine"},{"scope":"EXACT","text":"Increased serum fT3"},{"scope":"EXACT","text":"Increased serum free T3"},{"scope":"EXACT","text":"Increased serum free triiodothyronine"}]} +{"alt_ids":[],"definition":"Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH).","id":"HP:0011789","name":"Impaired sensitivity to thyroid stimulating hormone","obsolete":false,"parents":["HP:0002926"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"TSHR defect"},{"scope":"EXACT","text":"Thyroid-stimulating hormone receptor defect"}]} +{"alt_ids":[],"definition":"Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect.","id":"HP:0011790","name":"Activating thyroid-stimulating hormone receptor defect","obsolete":false,"parents":["HP:0011789"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Activating TSHR defect"}]} +{"alt_ids":[],"definition":"Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect.","id":"HP:0011791","name":"Inactivating thyroid-stimulating hormone receptor defect","obsolete":false,"parents":["HP:0011789"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inactivating TSHR defect"}]} +{"alt_ids":[],"definition":"Neoplasm categorized according to type of histological abnormality.","id":"HP:0011792","name":"Neoplasm by histology","obsolete":false,"parents":["HP:0002664"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Neoplasm categorized according to the anatomical site of origin of the neoplasm.","id":"HP:0011793","name":"Neoplasm by anatomical site","obsolete":false,"parents":["HP:0002664"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of an embryonal neoplasm of the kidney that primarily affects children.","id":"HP:0011794","name":"Embryonal renal neoplasm","obsolete":false,"parents":["HP:0002898","HP:0009726"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it).","id":"HP:0011795","name":"Intralobar nephroblastomatosis","obsolete":false,"parents":["HP:0008643"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar).","id":"HP:0011796","name":"Perilobar nephroblastomatosis","obsolete":false,"parents":["HP:0008643"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli.","id":"HP:0011797","name":"Papillary renal cell carcinoma type 1","obsolete":false,"parents":["HP:0006766"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm.","id":"HP:0011798","name":"Renal oncocytoma","obsolete":false,"parents":["HP:0009726"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011799","name":"Abnormality of facial soft tissue","obsolete":false,"parents":["HP:0000271"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of facial soft tissue"},{"scope":"EXACT","text":"Anomaly of facial soft tissue"},{"scope":"NARROW","text":"Deformity of facial soft tissue"},{"scope":"NARROW","text":"Malformation of facial soft tissue"}]} +{"alt_ids":["HP:0040199"],"definition":"Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.","id":"HP:0011800","name":"Midface retrusion","obsolete":false,"parents":["HP:0000309"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Decreased projection of midface"},{"scope":"EXACT","text":"Decreased size of midface"},{"scope":"EXACT","text":"Flat midface"},{"scope":"EXACT","text":"Hypoplasia of midface"},{"scope":"RELATED","text":"Hypotrophic midface"},{"scope":"EXACT","text":"Midface deficiency"},{"scope":"EXACT","text":"Midface hypoplasia"},{"scope":"EXACT","text":"Midface retrusion"},{"scope":"EXACT","text":"Midface, flat"},{"scope":"EXACT","text":"Retrusive midface"},{"scope":"BROAD","text":"Small midface"},{"scope":"EXACT","text":"Underdevelopment of midface"}]} +{"alt_ids":[],"definition":"Increased size of the parotid gland.","id":"HP:0011801","name":"Enlargement of parotid gland","obsolete":false,"parents":["HP:0000197"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperplasia of parotid gland"},{"scope":"RELATED","text":"Hypertrophy of parotid gland"},{"scope":"EXACT","text":"Increased size of parotid gland"}]} +{"alt_ids":[],"definition":"A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue.","id":"HP:0011802","name":"Hamartoma of tongue","obsolete":false,"parents":["HP:0100648"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lingual hamartoma"}]} +{"alt_ids":[],"definition":"Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip.","id":"HP:0011803","name":"Bifid nose","obsolete":false,"parents":["HP:0004122"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bifid nasal bridge"},{"scope":"RELATED","text":"Cleft nasal bridge"},{"scope":"RELATED","text":"Cleft nose"},{"scope":"EXACT","text":"Indentation or clefting of the nose"},{"scope":"RELATED","text":"Indented bridge of nose"}]} +{"alt_ids":[],"definition":"A functional abnormality of a skeletal muscle.","id":"HP:0011804","name":"Abnormal muscle physiology","obsolete":false,"parents":["HP:0003011"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of muscle physiology"},{"scope":"EXACT","text":"Issue with muscle function"}]} +{"alt_ids":["HP:0003735"],"definition":"A structural abnormality of a skeletal muscle.","id":"HP:0011805","name":"Abnormal skeletal muscle morphology","obsolete":false,"parents":["HP:0003011"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal muscle morphology"},{"scope":"EXACT","text":"Abnormality of muscle morphology"},{"scope":"EXACT","text":"Abnormally shaped muscle"},{"scope":"EXACT","text":"Issue with muscle structure"}]} +{"alt_ids":[],"definition":"Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy.","id":"HP:0011807","name":"Type 1 muscle fiber atrophy","obsolete":false,"parents":["HP:0100295"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Type 1 muscle fibre atrophy"}]} +{"alt_ids":[],"definition":"Decreased intensity of the patellar reflex (also known as the knee jerk reflex).","id":"HP:0011808","name":"Decreased patellar reflex","obsolete":false,"parents":["HP:0002600"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased knee jerk reflex"},{"scope":"EXACT","text":"Decreased patellar reflexes"}]} +{"alt_ids":[],"definition":"A type of myotonia that worsens with repeated muscle contractions.","id":"HP:0011809","name":"Paradoxical myotonia","obsolete":false,"parents":["HP:0002486"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart.","id":"HP:0011810","name":"Impaired two-point discrimination","obsolete":false,"parents":["HP:0011730"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip.","id":"HP:0011811","name":"Impaired touch localization","obsolete":false,"parents":["HP:0011730"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Impaired topognosis"},{"scope":"EXACT","text":"Impaired touch localisation"}]} +{"alt_ids":[],"definition":"Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination).","id":"HP:0011812","name":"Agraphesthesia","obsolete":false,"parents":["HP:0011730"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.","id":"HP:0011813","name":"Increased cerebral lipofuscin","obsolete":false,"parents":["HP:0007367"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of hypoxanthine in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0011814","name":"Increased urinary hypoxanthine level","obsolete":false,"parents":["HP:0040425"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect.","id":"HP:0011815","name":"Cephalocele","obsolete":false,"parents":["HP:0000929"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An encephalocele located between bregma and lambda.","id":"HP:0011816","name":"Parietal encephalocele","obsolete":false,"parents":["HP:0002084"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares.","id":"HP:0011817","name":"Basal encephalocele","obsolete":false,"parents":["HP:0002084"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011818","name":"Nasofrontal encephalocele","obsolete":false,"parents":["HP:0007330"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Naso-frontal encephalocele"}]} +{"alt_ids":[],"definition":"A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue.","id":"HP:0011819","name":"Submucous cleft soft palate","obsolete":false,"parents":["HP:0000185","HP:5201016"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial thickness cleft soft palate"},{"scope":"EXACT","text":"Submucous cleft velum"}]} +{"alt_ids":[],"definition":"Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike.","id":"HP:0011820","name":"Membranous choanal atresia","obsolete":false,"parents":["HP:0000453"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of one or more of the set of bones that make up the facial skeleton.","id":"HP:0011821","name":"Abnormal facial skeleton morphology","obsolete":false,"parents":["HP:0000929"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Abnormality of facial bones"},{"scope":"EXACT","text":"Abnormality of facial skeleton"},{"scope":"NARROW","text":"Anomaly of facial bones"},{"scope":"EXACT","text":"Anomaly of facial skeleton"},{"scope":"NARROW","text":"Deformity of facial skeleton"},{"scope":"NARROW","text":"Deformity of the facial bones"},{"scope":"NARROW","text":"Malformation of facial bones"},{"scope":"NARROW","text":"Malformation of facial skeleton"}]} +{"alt_ids":[],"definition":"Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue.","id":"HP:0011822","name":"Broad chin","obsolete":false,"parents":["HP:0000306"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad chin"},{"scope":"EXACT","text":"Increased width of chin"},{"scope":"EXACT","text":"Increased width of menton region"},{"scope":"EXACT","text":"Wide chin"}]} +{"alt_ids":[],"definition":"Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest.","id":"HP:0011823","name":"Chin with horizontal crease","obsolete":false,"parents":["HP:0000306"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chin with horizontal crease"},{"scope":"EXACT","text":"Chin with horizontal furrow"},{"scope":"EXACT","text":"Chin with horizontal groove"},{"scope":"EXACT","text":"Chin with horizontal sulcus"},{"scope":"EXACT","text":"Horizontal chin skin cleft"},{"scope":"EXACT","text":"Horizontal menton crease"}]} +{"alt_ids":[],"definition":"H-shaped crease in the fat pad of the chin.","id":"HP:0011824","name":"Chin with H-shaped crease","obsolete":false,"parents":["HP:0000306"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chin with H-shaped crease"},{"scope":"EXACT","text":"Chin, H-Shaped Crease"},{"scope":"EXACT","text":"Chin, H-shaped groove"},{"scope":"EXACT","text":"H shaped chin dimple"},{"scope":"EXACT","text":"H-shaped dimple of the chin"}]} +{"alt_ids":[],"definition":"Prominence of a triangular soft tissue area of the philtrum with the apex to the columella.","id":"HP:0011825","name":"Tented philtrum","obsolete":false,"parents":["HP:0000288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Philtrum, Tented"}]} +{"alt_ids":[],"definition":"Narrow ridge in the midline of the philtral groove.","id":"HP:0011826","name":"Philtrum with midline raphe","obsolete":false,"parents":["HP:0000288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Philtrum with central raphe"},{"scope":"EXACT","text":"Philtrum with midline ridge"},{"scope":"EXACT","text":"Philtrum, midline raphe"}]} +{"alt_ids":[],"definition":"Absence of the usual parallel position of philtral ridges.","id":"HP:0011827","name":"Malaligned philtral ridges","obsolete":false,"parents":["HP:0000288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Asymmetric philtral columns"},{"scope":"EXACT","text":"Asymmetric philtral ridges"},{"scope":"EXACT","text":"Malaligned philtral columns"},{"scope":"EXACT","text":"Philtral Ridges, Malaligned"}]} +{"alt_ids":[],"definition":"Pit in the midline of the philtral groove.","id":"HP:0011828","name":"Midline sinus of philtrum","obsolete":false,"parents":["HP:0000288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Central sinus of philtrum"},{"scope":"EXACT","text":"Philtrum, Midline Sinus"}]} +{"alt_ids":[],"definition":"Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum.","id":"HP:0011829","name":"Narrow philtrum","obsolete":false,"parents":["HP:0000288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased breadth of philtrum"},{"scope":"EXACT","text":"Decreased horizontal dimension of philtrum"},{"scope":"EXACT","text":"Decreased transverse dimension of philtrum"},{"scope":"EXACT","text":"Decreased width of philtrum"},{"scope":"EXACT","text":"Philtrum, Narrow"},{"scope":"EXACT","text":"Thin philtrum"}]} +{"alt_ids":[],"definition":"Abnormality of the oral mucosa.","id":"HP:0011830","name":"Abnormal oral mucosa morphology","obsolete":false,"parents":["HP:0000163"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of lining of mouth"},{"scope":"EXACT","text":"Abnormality of mucosa of mouth"},{"scope":"EXACT","text":"Abnormality of oral mucosa"},{"scope":"EXACT","text":"Abnormality of oral mucous membrane"}]} +{"alt_ids":[],"definition":"Nasal tip positioned to one side of the midline.","id":"HP:0011831","name":"Deviated nasal tip","obsolete":false,"parents":["HP:0000436"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Asymmetry of nasal tip"},{"scope":"EXACT","text":"Asymmetry of tip of nose"},{"scope":"EXACT","text":"Crooked nasal tip"},{"scope":"EXACT","text":"Crooked tip of nose"},{"scope":"EXACT","text":"Deviated nasal tip"},{"scope":"EXACT","text":"Deviated tip of nose"},{"scope":"NARROW","text":"Distortion of the nasal tip"},{"scope":"EXACT","text":"Nasal tip, deviated"}]} +{"alt_ids":[],"definition":"Decrease in width of the nasal tip.","id":"HP:0011832","name":"Narrow nasal tip","obsolete":false,"parents":["HP:0000436"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrow nasal tip"},{"scope":"EXACT","text":"Narrow tip of nose"},{"scope":"EXACT","text":"Nasal tip, narrow"},{"scope":"EXACT","text":"Nasal tip, pinched"},{"scope":"EXACT","text":"Pinched nasal tip"},{"scope":"EXACT","text":"Pinched tip of nose"},{"scope":"EXACT","text":"Thin nasal tip"},{"scope":"EXACT","text":"Thin tip of nose"}]} +{"alt_ids":[],"definition":"Positioning of the nasal tip inferior to the nasal base.","id":"HP:0011833","name":"Overhanging nasal tip","obsolete":false,"parents":["HP:0000436"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Drooping nasal tip"},{"scope":"EXACT","text":"Hooked tip of nose"},{"scope":"EXACT","text":"Low hanging nasal tip"},{"scope":"EXACT","text":"Nasal tip, overhanging"},{"scope":"EXACT","text":"Overhanging nasal tip"}]} +{"alt_ids":[],"definition":"A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis.","id":"HP:0011834","name":"Moyamoya phenomenon","obsolete":false,"parents":["HP:0009145"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Congenital absence of the scaphoid..","id":"HP:0011835","name":"Absent scaphoid","obsolete":false,"parents":["HP:0004231"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Absent scaphoid bone"},{"scope":"EXACT","text":"Missing scaphoid bone"}]} +{"alt_ids":[],"definition":"Delayed maturation and calcification of the talus.","id":"HP:0011836","name":"Delayed talus ossification","obsolete":false,"parents":["HP:0008365","HP:0008369"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011837","name":"obsolete Partial IgA deficiency","obsolete":true,"parents":[],"replaced_by":["HP:0002720"],"synonyms":[]} +{"alt_ids":[],"definition":"Localized thickening and tightness of the skin of the fingers or toes.","id":"HP:0011838","name":"Sclerodactyly","obsolete":false,"parents":["HP:0001072"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase or decrease of absolute number (either count per volume or proportion of total lymphocytes) of T cells or of a subset of T cells, commonly characterized as CD3+ lymphocytes, in the blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells.","id":"HP:0011839","name":"Abnormal total T cell number","obsolete":false,"parents":["HP:0002843","HP:0040088"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal T cell count"},{"scope":"EXACT","text":"Abnormal number of T cells"},{"scope":"EXACT","text":"Abnormality of T cell number"}]} +{"alt_ids":["HP:0002844","HP:0005354","HP:0005373","HP:0005383","HP:0005402","HP:0005409","HP:0005435"],"definition":"A functional anomaly of T cells.","id":"HP:0011840","name":"Abnormal T cell physiology","obsolete":false,"parents":["HP:0031409"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of T cell physiology"},{"scope":"EXACT","text":"Impaired T cell function"}]} +{"alt_ids":[],"definition":"A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance.","id":"HP:0011841","name":"Ventricular flutter","obsolete":false,"parents":["HP:0031676"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the form, structure, or size of the skeletal system.","id":"HP:0011842","name":"Abnormal skeletal morphology","obsolete":false,"parents":["HP:0000924"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of skeletal morphology"},{"scope":"EXACT","text":"Abnormally shaped skeletal"}]} +{"alt_ids":[],"definition":"An abnormality of the function of the skeletal system.","id":"HP:0011843","name":"Abnormal musculoskeletal physiology","obsolete":false,"parents":["HP:0033127"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of musculoskeletal physiology"}]} +{"alt_ids":[],"definition":"An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles.","id":"HP:0011844","name":"Abnormal appendicular skeleton morphology","obsolete":false,"parents":["HP:0011842"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Short (hypoplastic) second metatarsal bone.","id":"HP:0011845","name":"Short second metatarsal","obsolete":false,"parents":["HP:0010743","HP:0040034"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short 2nd long bone of foot"}]} +{"alt_ids":[],"definition":"A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue.","id":"HP:0011846","name":"Osteoblastoma","obsolete":false,"parents":["HP:0010622"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts.","id":"HP:0011847","name":"Giant cell tumor of bone","obsolete":false,"parents":["HP:0010622"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Giant cell tumour of bone"}]} +{"alt_ids":[],"definition":"A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity.","id":"HP:0011848","name":"Abdominal colic","obsolete":false,"parents":["HP:0002027"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.","id":"HP:0011849","name":"Abnormal bone ossification","obsolete":false,"parents":["HP:0003330"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormal bone maturation"}]} +{"alt_ids":[],"definition":"Inflammation of the parotid gland.","id":"HP:0011850","name":"Parotitis","obsolete":false,"parents":["HP:0000197"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of blood within the pericardial sac.","id":"HP:0011851","name":"Hemopericardium","obsolete":false,"parents":["HP:0001698"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct.","id":"HP:0011852","name":"Chylopericardium","obsolete":false,"parents":["HP:0001698"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac.","id":"HP:0011853","name":"Serous pericardial effusion","obsolete":false,"parents":["HP:0001698"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of blood in the peritoneal cavity owing to internal hemorrhage.","id":"HP:0011854","name":"Hemoperitoneum","obsolete":false,"parents":["HP:0002585"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Hematoperitoneum"}]} +{"alt_ids":[],"definition":"Abnormal accumulation of fluid leading to swelling of the pharynx.","id":"HP:0011855","name":"Pharyngeal edema","obsolete":false,"parents":["HP:0000969","HP:0033151"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pharyngeal oedema"},{"scope":"EXACT","text":"Swollen throat"},{"scope":"EXACT","text":"Throat swelling"}]} +{"alt_ids":[],"definition":"An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month.","id":"HP:0011856","name":"Pica","obsolete":false,"parents":["HP:0100738"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location.","id":"HP:0011857","name":"Plasmacytoma","obsolete":false,"parents":["HP:0004377"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.","id":"HP:0011858","name":"Reduced factor IX activity","obsolete":false,"parents":["HP:0033062"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low factor IX activity"}]} +{"alt_ids":[],"definition":"A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium.","id":"HP:0011859","name":"Punctate keratitis","obsolete":false,"parents":["HP:0000491"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of spots or rounded patches of abnormally increased density of metaphyseal bone.","id":"HP:0011860","name":"Metaphyseal dappling","obsolete":false,"parents":["HP:0004979"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dappled metaphyseal sclerosis"}]} +{"alt_ids":[],"definition":"Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes.","id":"HP:0011861","name":"Bilateral trilobed lung","obsolete":false,"parents":["HP:0002101"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bilateral trilobed lungs"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity.","id":"HP:0011862","name":"Abnormal bone collagen fibril morphology","obsolete":false,"parents":["HP:0003330"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006624"],"definition":"Any anomaly in the formation of the bony substance of the sternum.","id":"HP:0011863","name":"Abnormal sternal ossification","obsolete":false,"parents":["HP:0000766","HP:0003336"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal maturation of breastbone"},{"scope":"EXACT","text":"Sternal ossification center abnormalities"},{"scope":"EXACT","text":"Sternal ossification centre abnormalities"}]} +{"alt_ids":[],"definition":"An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.","id":"HP:0011864","name":"Elevated plasma pyrophosphate","obsolete":false,"parents":["HP:0100529"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally.","id":"HP:0011867","name":"Abnormal iliac wing morphology","obsolete":false,"parents":["HP:0002867"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the wing of the ilium"}]} +{"alt_ids":[],"definition":"Pain in the lower back and hip radiating in the distribution of the sciatic nerve.","id":"HP:0011868","name":"Sciatica","obsolete":false,"parents":["HP:0003418"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly in the function of thrombocytes.","id":"HP:0011869","name":"Abnormal platelet function","obsolete":false,"parents":["HP:0001872"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid.","id":"HP:0011870","name":"Impaired arachidonic acid-induced platelet aggregation","obsolete":false,"parents":["HP:0003540"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin.","id":"HP:0011871","name":"Impaired ristocetin-induced platelet aggregation","obsolete":false,"parents":["HP:0003540","HP:0012146"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics).","id":"HP:0011872","name":"Impaired thrombin-induced platelet aggregation","obsolete":false,"parents":["HP:0003540"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.","id":"HP:0011873","name":"Abnormal platelet count","obsolete":false,"parents":["HP:0011875"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin.","id":"HP:0011874","name":"Heparin-induced thrombocytopenia","obsolete":false,"parents":["HP:0001873"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly in platelet form, ultrastructure, or intracellular organelles.","id":"HP:0011875","name":"Abnormal platelet morphology","obsolete":false,"parents":["HP:0001872"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of platelets"}]} +{"alt_ids":[],"definition":"Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers.","id":"HP:0011876","name":"Abnormal platelet volume","obsolete":false,"parents":["HP:0011875"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Average platelet volume above the upper limit of the normal reference interval.","id":"HP:0011877","name":"Increased mean platelet volume","obsolete":false,"parents":["HP:0011876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Large platelets"}]} +{"alt_ids":[],"definition":"Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry.","id":"HP:0011878","name":"Abnormal platelet membrane protein expression","obsolete":false,"parents":["HP:0011869"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V.","id":"HP:0011879","name":"Decreased platelet glycoprotein Ib-IX-V","obsolete":false,"parents":["HP:0011878"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed.","id":"HP:0011880","name":"Acute disseminated intravascular coagulation","obsolete":false,"parents":["HP:0005521"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased cell membrane concentration of glycoprotein VI.","id":"HP:0011881","name":"Decreased platelet glycoprotein VI","obsolete":false,"parents":["HP:0011878"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased cell membrane concentration of P2Y12 receptor.","id":"HP:0011882","name":"Decreased platelet P2Y12 receptor","obsolete":false,"parents":["HP:0011878"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of alpha or dense granules or platelet lysosomes.","id":"HP:0011883","name":"Abnormal platelet granules","obsolete":false,"parents":["HP:0011875"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.","id":"HP:0011884","name":"Abnormal umbilical stump bleeding","obsolete":false,"parents":["HP:0001892"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bleeding from vessels of the various tissues of the eye.","id":"HP:0011885","name":"Hemorrhage of the eye","obsolete":false,"parents":["HP:0011029","HP:0012373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bleeding from the eye"},{"scope":"EXACT","text":"Haemorrhage of the eye"}]} +{"alt_ids":[],"definition":"Bleeding in the anterior chamber of the eye.","id":"HP:0011886","name":"Hyphema","obsolete":false,"parents":["HP:0011885"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hemorrhage from the vessels of the choroid.","id":"HP:0011887","name":"Choroid hemorrhage","obsolete":false,"parents":["HP:0011885"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Choroid haemorrhage"},{"scope":"EXACT","text":"Choroidal haemorrhage"},{"scope":"EXACT","text":"Choroidal hemorrhage"}]} +{"alt_ids":[],"definition":"Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4).","id":"HP:0011888","name":"Bleeding requiring red cell transfusion","obsolete":false,"parents":["HP:0001892"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bleeding requiring red cell transfusion"}]} +{"alt_ids":[],"definition":"Significant bleeding or hemorrhage without significant precipitating factor.","id":"HP:0011889","name":"Bleeding with minor or no trauma","obsolete":false,"parents":["HP:0001892"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bleeding with minor or no trauma"},{"scope":"EXACT","text":"Easy bleeding"}]} +{"alt_ids":[],"definition":"Prolonged or protracted bleeding following an invasive procedure or intervention.","id":"HP:0011890","name":"Prolonged bleeding following procedure","obsolete":false,"parents":["HP:0001892"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prolonged bleeding following procedure"}]} +{"alt_ids":[],"definition":"Significant maternal hemorrhage/blood loss following deilvery of a child.","id":"HP:0011891","name":"Post-partum hemorrhage","obsolete":false,"parents":["HP:0011890"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bleeding post-delivery"}]} +{"alt_ids":[],"definition":"The concentration of vitamin K in the blood circulation is below the lower limit of normal.","id":"HP:0011892","name":"Decreased circulating vitamin K concentration","obsolete":false,"parents":["HP:0100831"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low levels of vitamin K"}]} +{"alt_ids":[],"definition":"Number of leukocytes per volume of blood beyond normal limits.","id":"HP:0011893","name":"Abnormal leukocyte count","obsolete":false,"parents":["HP:0001881"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal white blood cell count"}]} +{"alt_ids":[],"definition":"Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists.","id":"HP:0011894","name":"Impaired thromboxane A2 agonist-induced platelet aggregation","obsolete":false,"parents":["HP:0003540"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days.","id":"HP:0011895","name":"Anemia due to reduced life span of red cells","obsolete":false,"parents":["HP:0001903"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anaemia due to reduced life span of red cells"}]} +{"alt_ids":[],"definition":"Bleeding beneath the mucous membrane that lines the inner surface of the eyelid.","id":"HP:0011896","name":"Subconjunctival hemorrhage","obsolete":false,"parents":["HP:0011885"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Subconjunctival haemorrhage"}]} +{"alt_ids":[],"definition":"Abnormal increase of absolute number of neutrophils in the blood, per microliter, compared to a reference range for a given sex and age-group.","id":"HP:0011897","name":"Increased total neutrophil count","obsolete":false,"parents":["HP:0011991"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased blood neutrophil counts"},{"scope":"EXACT","text":"Neutrophilia"}]} +{"alt_ids":[],"definition":"An abnormality of the level of activity of circulating fibrinogen.","id":"HP:0011898","name":"Abnormality of circulating fibrinogen","obsolete":false,"parents":["HP:0010990"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased concentration of fibrinogen in the blood.","id":"HP:0011899","name":"Hyperfibrinogenemia","obsolete":false,"parents":["HP:0011898"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased concentration of fibrinogen in the blood.","id":"HP:0011900","name":"Hypofibrinogenemia","obsolete":false,"parents":["HP:0011898"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low fibrinogen activity"},{"scope":"EXACT","text":"Low fibrinogen level"}]} +{"alt_ids":[],"definition":"Qualitatively abnormal fibrinogen.","id":"HP:0011901","name":"Dysfibrinogenemia","obsolete":false,"parents":["HP:0011898"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dysfibrinogenaemia"}]} +{"alt_ids":[],"definition":"Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes.","id":"HP:0011902","name":"Abnormal hemoglobin","obsolete":false,"parents":["HP:0001877"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal Hb"},{"scope":"EXACT","text":"Abnormal haemoglobin"}]} +{"alt_ids":[],"definition":"Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia.","id":"HP:0011903","name":"HbH hemoglobin","obsolete":false,"parents":["HP:0011902"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Haemoglobin H"},{"scope":"EXACT","text":"HbH haemoglobin"},{"scope":"EXACT","text":"Hemoglobin H"}]} +{"alt_ids":[],"definition":"Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.","id":"HP:0011904","name":"Persistence of hemoglobin F","obsolete":false,"parents":["HP:0011902"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased haemoglobin F"},{"scope":"EXACT","text":"Increased hemoglobin F"},{"scope":"EXACT","text":"Persistence of HbF"},{"scope":"EXACT","text":"Persistence of haemoglobin F"}]} +{"alt_ids":[],"definition":"Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia.","id":"HP:0011905","name":"Reduced hemoglobin A","obsolete":false,"parents":["HP:0011902"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced HbA"},{"scope":"EXACT","text":"Reduced haemoglobin A"}]} +{"alt_ids":[],"definition":"A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia.","id":"HP:0011906","name":"Reduced beta/alpha synthesis ratio","obsolete":false,"parents":["HP:0005560"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia.","id":"HP:0011907","name":"Reduced alpha/beta synthesis ratio","obsolete":false,"parents":["HP:0005560"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Missing radius bone on one side only associated with congenital failure of development.","id":"HP:0011908","name":"Unilateral radial aplasia","obsolete":false,"parents":["HP:0003974"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally flat shape of the heads of the metacarpal bones.","id":"HP:0011909","name":"Flattened metacarpal heads","obsolete":false,"parents":["HP:0005916"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flattened head of long bone of hand"}]} +{"alt_ids":[],"definition":"Abnormal reduction in length affecting all phalanges.","id":"HP:0011910","name":"Shortening of all phalanges of fingers","obsolete":false,"parents":["HP:0009803"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Shortening of all finger bones"}]} +{"alt_ids":[],"definition":"An anomaly of a metacarpophalangeal joint.","id":"HP:0011911","name":"Abnormal metacarpophalangeal joint morphology","obsolete":false,"parents":["HP:0005916"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of metacarpophalangeal joint"},{"scope":"EXACT","text":"Abnormality of the knuckle"}]} +{"alt_ids":[],"definition":"An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.","id":"HP:0011912","name":"Abnormality of the glenoid fossa","obsolete":false,"parents":["HP:0000782","HP:0003043"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excessive, increased hair growth located in the lumbar region.","id":"HP:0011913","name":"Lumbar hypertrichosis","obsolete":false,"parents":["HP:0000998"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excessive, increased hair growth located in the thoracic region.","id":"HP:0011914","name":"Thoracic hypertrichosis","obsolete":false,"parents":["HP:0000998"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal calcification in the cardiovascular system.","id":"HP:0011915","name":"Cardiovascular calcification","obsolete":false,"parents":["HP:0010766","HP:0030680"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes.","id":"HP:0011916","name":"Toe extensor amyotrophy","obsolete":false,"parents":["HP:0001436"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment (hypoplasia) of the fifth toe.","id":"HP:0011917","name":"Short 5th toe","obsolete":false,"parents":["HP:0001831"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short fifth toe"},{"scope":"EXACT","text":"Short little toe"},{"scope":"EXACT","text":"Short pinkie toe"},{"scope":"EXACT","text":"Short pinky toe"}]} +{"alt_ids":[],"definition":"Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe).","id":"HP:0011918","name":"Clinodactyly of the 4th toe","obsolete":false,"parents":["HP:0001863","HP:0010338"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"4th toe clinodactyly"},{"scope":"BROAD","text":"Curvature of 4th toe"}]} +{"alt_ids":[],"definition":"Accumulation of pus in the pleural cavity.","id":"HP:0011919","name":"Pleural empyema","obsolete":false,"parents":["HP:0002202"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pyothorax"}]} +{"alt_ids":[],"definition":"A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.","id":"HP:0011920","name":"Transudative pleural effusion","obsolete":false,"parents":["HP:0002202"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.","id":"HP:0011921","name":"Exudative pleural effusion","obsolete":false,"parents":["HP:0002202"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased or decreased activity of the mitochondrial respiratory chain.","id":"HP:0011922","name":"Abnormal activity of mitochondrial respiratory chain","obsolete":false,"parents":["HP:0003287"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.","id":"HP:0011923","name":"Decreased activity of mitochondrial complex I","obsolete":false,"parents":["HP:0008972"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Respiratory complex I deficiency"}]} +{"alt_ids":[],"definition":"A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria.","id":"HP:0011924","name":"Decreased activity of mitochondrial complex III","obsolete":false,"parents":["HP:0008972"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Respiratory complex III deficiency"}]} +{"alt_ids":[],"definition":"A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain.","id":"HP:0011925","name":"Decreased activity of mitochondrial ATP synthase complex","obsolete":false,"parents":["HP:0008972"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased activity of mitochondrial complex V"},{"scope":"EXACT","text":"Mitochondrial complex V deficiency"},{"scope":"RELATED","text":"Respiratory complex deficiency, ATPase deficiency"}]} +{"alt_ids":[],"definition":"Proximal mislocalization of the big toe from its normal position.","id":"HP:0011926","name":"Proximal placement of hallux","obsolete":false,"parents":["HP:0010051"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Proximal placement of big toe"},{"scope":"EXACT","text":"Proximally placed halluces"}]} +{"alt_ids":[],"definition":"One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened.","id":"HP:0011927","name":"Short digit","obsolete":false,"parents":["HP:0011297"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short digit"},{"scope":"RELATED","text":"Very short digits"}]} +{"alt_ids":[],"definition":"Developmental hypoplasia (shortening) of proximal phalanx of toe.","id":"HP:0011928","name":"Short proximal phalanx of toe","obsolete":false,"parents":["HP:0001831","HP:0010184"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short innermost toe bone"}]} +{"alt_ids":[],"definition":"Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger.","id":"HP:0011929","name":"Hypersegmentation of proximal phalanx of third finger","obsolete":false,"parents":["HP:0009358"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0011930","name":"Hyperextensible skin of chest","obsolete":false,"parents":["HP:0007458"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperelastic chest skin"},{"scope":"EXACT","text":"Stretchable chest skin"}]} +{"alt_ids":[],"definition":"An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum.","id":"HP:0011931","name":"Abnormal cerebellar peduncle morphology","obsolete":false,"parents":["HP:0001317","HP:0012501"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the cerebellar peduncle"}]} +{"alt_ids":[],"definition":"An anomaly of the superior cerebellar peduncle.","id":"HP:0011932","name":"Abnormal superior cerebellar peduncle morphology","obsolete":false,"parents":["HP:0007361","HP:0011931"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the superior cerebellar peduncle"}]} +{"alt_ids":[],"definition":"Increased length of the superior cerebellar peduncle.","id":"HP:0011933","name":"Elongated superior cerebellar peduncle","obsolete":false,"parents":["HP:0011932"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Elongated superior cerebellar peduncles"},{"scope":"EXACT","text":"Long cerebellar peduncle"},{"scope":"EXACT","text":"Long cerebellar peduncles"}]} +{"alt_ids":[],"definition":"Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery .","id":"HP:0011934","name":"Dilatation of mesenteric artery","obsolete":false,"parents":["HP:0002636","HP:0020317"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Mesenteric artery aneurysm"}]} +{"alt_ids":[],"definition":"Decreased concentration of urate in the urine.","id":"HP:0011935","name":"Decreased urinary urate","obsolete":false,"parents":["HP:0012610"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A decreased concentration of total carnitine in the blood.","id":"HP:0011936","name":"Decreased plasma total carnitine","obsolete":false,"parents":["HP:0003234"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased plasma total carnitine"}]} +{"alt_ids":[],"definition":"Underdeveloped nails of the fifth toes.","id":"HP:0011937","name":"Hypoplastic fifth toenail","obsolete":false,"parents":["HP:0001800"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small fifth toenail"},{"scope":"EXACT","text":"Underdeveloped fifth toenail"}]} +{"alt_ids":[],"definition":"A soft tissue continuity in the A/P axis between fingers 3 and 4.","id":"HP:0011939","name":"3-4 finger cutaneous syndactyly","obsolete":false,"parents":["HP:0010554"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front).","id":"HP:0011940","name":"Anterior wedging of T12","obsolete":false,"parents":["HP:0008422"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anterior wedging of the 12th thoracic vertebra"},{"scope":"EXACT","text":"Wedge-shaped 12th thoracic vertebra"}]} +{"alt_ids":[],"definition":"An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front).","id":"HP:0011941","name":"Anterior wedging of L2","obsolete":false,"parents":["HP:0008422"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of SO3(2-), i.e., sulfite, in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0011942","name":"Increased urinary sulfite level","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased concentration of thiosulfate(2-) in the urine.","id":"HP:0011943","name":"Increased urinary thiosulfate","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries.","id":"HP:0011944","name":"Small vessel vasculitis","obsolete":false,"parents":["HP:0034784"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss.","id":"HP:0011945","name":"Bronchiolitis obliterans organizing pneumonia","obsolete":false,"parents":["HP:0006530"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"BOOP"},{"scope":"EXACT","text":"Bronchiolitis obliterans organising pneumonia"},{"scope":"EXACT","text":"Cryptogenic organising pneumonia"},{"scope":"EXACT","text":"Cryptogenic organizing pneumonia"}]} +{"alt_ids":[],"definition":"Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways.","id":"HP:0011946","name":"Bronchiolitis obliterans","obsolete":false,"parents":["HP:0006530"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Constrictive bronchiolitis"},{"scope":"EXACT","text":"Obliterative bronchiolitis"}]} +{"alt_ids":[],"definition":"An infection of the upper or lower respiratory tract.","id":"HP:0011947","name":"Respiratory tract infection","obsolete":false,"parents":["HP:0002088"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Respiratory infection"},{"scope":"RELATED","text":"Respiratory infections"},{"scope":"EXACT","text":"Respiratory tract infection"}]} +{"alt_ids":[],"definition":"A history of repeated acute infections of the upper or lower respiratory tract.","id":"HP:0011948","name":"Recurrent acute respiratory tract infection","obsolete":false,"parents":["HP:0002205"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acute respiratory tract infection"}]} +{"alt_ids":[],"definition":"Acute inflammation of the lung due to an infection.","id":"HP:0011949","name":"Acute infectious pneumonia","obsolete":false,"parents":["HP:0002090"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to bronchiolitis (inflammation of the bronchioles) as manifested by recurrent or severe epsiodes of bronchiolitis.","id":"HP:0011950","name":"Unusual bronchiolitis","obsolete":false,"parents":["HP:5210123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.","id":"HP:0011951","name":"Aspiration pneumonia","obsolete":false,"parents":["HP:0002090"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.","id":"HP:0011952","name":"Acute aspiration pneumonia","obsolete":false,"parents":["HP:0011951"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lung parenchymal involvement with lymphoma.","id":"HP:0011953","name":"Pulmonary lymphoma","obsolete":false,"parents":["HP:0002665","HP:0100526"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis.","id":"HP:0011954","name":"Nodular regenerative hyperplasia of liver","obsolete":false,"parents":["HP:0410042"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nodular transformation of liver"},{"scope":"EXACT","text":"Noncirrhotic nodulation"},{"scope":"EXACT","text":"Partial nodular transformation of liver"}]} +{"alt_ids":[],"definition":"The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.","id":"HP:0011955","name":"Hepatic granulomatosis","obsolete":false,"parents":["HP:0002955","HP:0410042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centers are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centers; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine.","id":"HP:0011956","name":"Intestinal lymphoid nodular hyperplasia","obsolete":false,"parents":["HP:0002242"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major.","id":"HP:0011957","name":"Abnormal pectoral muscle morphology","obsolete":false,"parents":["HP:0009131"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal pec muscles"}]} +{"alt_ids":[],"definition":"A hole through the whole thickness of the retina, associated with trauma.","id":"HP:0011958","name":"Retinal perforation","obsolete":false,"parents":["HP:0000479"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Retinal tear"},{"scope":"EXACT","text":"Torn retina"}]} +{"alt_ids":[],"definition":"Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest.","id":"HP:0011959","name":"Unilateral hypoplasia of pectoralis major muscle","obsolete":false,"parents":["HP:0011957"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small pec muscle on one side"},{"scope":"EXACT","text":"Underdeveloped pec muscle on one side"}]} +{"alt_ids":[],"definition":"Focal proliferation of glial cells in the substantia nigra.","id":"HP:0011960","name":"Substantia nigra gliosis","obsolete":false,"parents":["HP:0002171","HP:0045007"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.","id":"HP:0011961","name":"Non-obstructive azoospermia","obsolete":false,"parents":["HP:0000027"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Testicular azoospermia"}]} +{"alt_ids":[],"definition":"Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.","id":"HP:0011962","name":"Obstructive azoospermia","obsolete":false,"parents":["HP:0000027"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels.","id":"HP:0011963","name":"Pretesticular azoospermia","obsolete":false,"parents":["HP:0000027"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of repeated intermittent involuntary muscle contractions that were painful.","id":"HP:0011964","name":"Intermittent painful muscle spasms","obsolete":false,"parents":["HP:0003394"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of citrulline in the blood circulation.","id":"HP:0011965","name":"Abnormal circulating citrulline concentration","obsolete":false,"parents":["HP:0033109"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal citrulline level"}]} +{"alt_ids":[],"definition":"The concentration of citrulline in the blood circulation is above the upper limit of normal.","id":"HP:0011966","name":"Elevated circulating citrulline concentration","obsolete":false,"parents":["HP:0011965"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated citrulline concentration"},{"scope":"EXACT","text":"Elevated citrulline level"},{"scope":"EXACT","text":"Elevated citrulline level in blood"},{"scope":"EXACT","text":"Increased citrulline concentration"},{"scope":"EXACT","text":"Increased citrulline level"},{"scope":"EXACT","text":"Increased citrulline level in blood"}]} +{"alt_ids":[],"definition":"The concentration of copper cation in the blood circulation is below the lower limit of normal.","id":"HP:0011967","name":"Decreased circulating copper concentration","obsolete":false,"parents":["HP:0010836"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Copper deficiency"},{"scope":"EXACT","text":"Decreased copper cation concentration"},{"scope":"EXACT","text":"Decreased copper cation level"},{"scope":"EXACT","text":"Decreased copper cation level in blood"},{"scope":"EXACT","text":"Hypocupremia"},{"scope":"EXACT","text":"Reduced copper cation concentration"},{"scope":"EXACT","text":"Reduced copper cation level"},{"scope":"EXACT","text":"Reduced copper cation level in blood"},{"scope":"EXACT","text":"Reduced serum copper"}]} +{"alt_ids":[],"definition":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","id":"HP:0011968","name":"Feeding difficulties","obsolete":false,"parents":["HP:0011458"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased oral intake"},{"scope":"EXACT","text":"Feeding difficulties"},{"scope":"EXACT","text":"Feeding problems"},{"scope":"EXACT","text":"Poor feeding"}]} +{"alt_ids":["HP:0030343"],"definition":"An elevated concentration of luteinizing hormone in the blood.","id":"HP:0011969","name":"Elevated circulating luteinizing hormone level","obsolete":false,"parents":["HP:0000837","HP:0030345"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated LH level"},{"scope":"EXACT","text":"Elevated luteinizing hormone"},{"scope":"EXACT","text":"Increased circulating luteinizing hormone level"}]} +{"alt_ids":[],"definition":"Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system.","id":"HP:0011970","name":"Cerebral amyloid angiopathy","obsolete":false,"parents":["HP:0020015"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor).","id":"HP:0011971","name":"Dermatographic urticaria","obsolete":false,"parents":["HP:0410134"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dermatographism"},{"scope":"EXACT","text":"Dermographism"},{"scope":"EXACT","text":"Skin writing"}]} +{"alt_ids":[],"definition":"Abnormally low glucose concentration in the cerebrospinal fluid.","id":"HP:0011972","name":"Hypoglycorrhachia","obsolete":false,"parents":["HP:0031884"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased CSF glucose"},{"scope":"EXACT","text":"Low glucose levels in cerebral spinal fluid"}]} +{"alt_ids":[],"definition":"Repeated episodes of sudden-onset and transient lethargy.","id":"HP:0011973","name":"Paroxysmal lethargy","obsolete":false,"parents":["HP:0001254"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intermittent lack of energy"}]} +{"alt_ids":[],"definition":"Replacement of bone marrow by fibrous tissue.","id":"HP:0011974","name":"Myelofibrosis","obsolete":false,"parents":["HP:0012145"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics.","id":"HP:0011975","name":"Aminoglycoside-induced hearing loss","obsolete":false,"parents":["HP:0000365"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of a catecholamine in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0011976","name":"Elevated urinary catecholamine level","obsolete":false,"parents":["HP:0011281"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urinary catecholamines"}]} +{"alt_ids":[],"definition":"An increased concentration of homovanillic acid in the urine.","id":"HP:0011977","name":"Elevated urinary homovanillic acid","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Increased urinary homovanillic acid"}]} +{"alt_ids":[],"definition":"An increased concentration of vanillylmandelic acid in the urine.","id":"HP:0011978","name":"Elevated urinary vanillylmandelic acid","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Increased urinary vanillylmandelic acid"}]} +{"alt_ids":[],"definition":"The concentration of dopamine in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0011979","name":"Elevated urinary dopamine level","obsolete":false,"parents":["HP:0011976"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urinary dopamine"}]} +{"alt_ids":[],"definition":"Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color.","id":"HP:0011980","name":"Cholesterol gallstones","obsolete":false,"parents":["HP:0001081"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration.","id":"HP:0011981","name":"Pigment gallstones","obsolete":false,"parents":["HP:0001081"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates.","id":"HP:0011982","name":"Black pigment gallstones","obsolete":false,"parents":["HP:0011981"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones.","id":"HP:0011983","name":"Brown pigment gallstones","obsolete":false,"parents":["HP:0011981"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia.","id":"HP:0011984","name":"Atretic gallbladder","obsolete":false,"parents":["HP:0011466"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gallbladder atresia"}]} +{"alt_ids":["HP:0200112"],"definition":"Clay colored stools lacking bile pigment.","id":"HP:0011985","name":"Acholic stools","obsolete":false,"parents":["HP:0001396","HP:0031685"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acholia"},{"scope":"EXACT","text":"Clay colored stools"},{"scope":"EXACT","text":"Clay coloured stools"},{"scope":"EXACT","text":"Discolored, acholic stools"}]} +{"alt_ids":[],"definition":"Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist.","id":"HP:0011986","name":"Ectopic ossification","obsolete":false,"parents":["HP:0011849"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ectopic bone formation"},{"scope":"EXACT","text":"Heterotopic ossification"}]} +{"alt_ids":[],"definition":"Formation of abnormal bony tissue within muscle tissue.","id":"HP:0011987","name":"Ectopic ossification in muscle tissue","obsolete":false,"parents":["HP:0011986"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Calcification of muscle tissue"}]} +{"alt_ids":[],"definition":"Formation of abnormal bony tissue within tendon tissue.","id":"HP:0011988","name":"Ectopic ossification in tendon tissue","obsolete":false,"parents":["HP:0011986"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Formation of abnormal bony tissue within ligament tissue.","id":"HP:0011989","name":"Ectopic ossification in ligament tissue","obsolete":false,"parents":["HP:0011986"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any functional abnormality of neutrophils.","id":"HP:0011990","name":"Abnormal neutrophil physiology","obsolete":false,"parents":["HP:0001874","HP:0033796"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of neutrophil physiology"}]} +{"alt_ids":[],"definition":"A deviation from the normal range of neutrophil cell counts in the circulation.","id":"HP:0011991","name":"Abnormal total neutrophil count","obsolete":false,"parents":["HP:0011992","HP:0032309"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal neutrophil cell number"},{"scope":"EXACT","text":"Abnormal neutrophil count"}]} +{"alt_ids":[],"definition":"An abnormal form or size of neutrophils.","id":"HP:0011992","name":"Abnormal neutrophil morphology","obsolete":false,"parents":["HP:0001874"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of neutrophil morphology"}]} +{"alt_ids":[],"definition":"A reduction in the ability of neutrophils to kill bacteria.","id":"HP:0011993","name":"Impaired neutrophil bactericidal activity","obsolete":false,"parents":["HP:0011990"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the interatrial septum.","id":"HP:0011994","name":"Abnormal atrial septum morphology","obsolete":false,"parents":["HP:0001671"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal interatrial septum morphology"},{"scope":"EXACT","text":"Abnormality of the atrial septum"}]} +{"alt_ids":[],"definition":"A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography.","id":"HP:0011995","name":"Atrial septal dilatation","obsolete":false,"parents":["HP:0011994"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Atrial septal aneurysm"}]} +{"alt_ids":[],"definition":"Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex.","id":"HP:0011996","name":"Elevated coagulation factor V activity","obsolete":false,"parents":["HP:0031899"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated factor V activity"},{"scope":"EXACT","text":"Plasma factor V elevated"}]} +{"alt_ids":[],"definition":"Abnormally increased level of blood lactate following a meal.","id":"HP:0011997","name":"Postprandial hyperlactemia","obsolete":false,"parents":["HP:0002151"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of glucose in the blood following a meal.","id":"HP:0011998","name":"Postprandial hyperglycemia","obsolete":false,"parents":["HP:0003074"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The feeling and belief that one is being targeted or is a focus of negative or untoward actions, overt or covert, from others. The affected individual expresses a concern that people are in general against the individual and are engaging in subtle behaviors to make things difficult for them. The origins of such thinking may arise from real events and become amplified over time. Paranoia may also arise in the absence of any action or interaction between the person and their environment.","id":"HP:0011999","name":"Paranoia","obsolete":false,"parents":["HP:5200242"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Paranoia"}]} +{"alt_ids":[],"definition":"EEG with generalized sharp transient waves of a duration less than 80 msec.","id":"HP:0012000","name":"EEG with generalized spikes","obsolete":false,"parents":["HP:0011198"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EEG with generalised spikes"}]} +{"alt_ids":[],"definition":"EEG with repetitive generalized sharp transient waves of a duration less than 80 msec.","id":"HP:0012001","name":"EEG with generalized polyspikes","obsolete":false,"parents":["HP:0011198"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EEG with generalised polyspikes"}]} +{"alt_ids":[],"definition":"Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.","id":"HP:0012002","name":"Experiential epileptic aura","obsolete":false,"parents":["HP:0033346"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Experiential aura"},{"scope":"EXACT","text":"Experiential auras"}]} +{"alt_ids":[],"definition":"Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.","id":"HP:0012003","name":"Affective epileptic aura","obsolete":false,"parents":["HP:0033346"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Affective aura"},{"scope":"EXACT","text":"Affective auras"},{"scope":"EXACT","text":"Emotional aura"}]} +{"alt_ids":["HP:0032697"],"definition":"A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation.","id":"HP:0012004","name":"Focal cognitive seizure with deja vu/jamais vu","obsolete":false,"parents":["HP:0012002","HP:0032680"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mnemonic aura"},{"scope":"EXACT","text":"Mnemonic auras"}]} +{"alt_ids":[],"definition":"A subjective feeling that an experience which is occurring for the first time has been experienced before.","id":"HP:0012005","name":"Deja vu aura","obsolete":false,"parents":["HP:0012004"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deja vu"}]} +{"alt_ids":[],"definition":"A subjective feeling that an experience which has occurred before is being experienced for the first time.","id":"HP:0012006","name":"Jamais vu aura","obsolete":false,"parents":["HP:0012004"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Jamais vu"}]} +{"alt_ids":["HP:0032703"],"definition":"A focal cognitive seizure characterized by hallucination as the initial semiological manifestation.","id":"HP:0012007","name":"Focal cognitive seizure with hallucination","obsolete":false,"parents":["HP:0032680","HP:0033347"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hallucinatory aura"},{"scope":"EXACT","text":"Hallucinatory auras"}]} +{"alt_ids":["HP:0032695"],"definition":"A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation.","id":"HP:0012008","name":"Focal cognitive seizure with illusion","obsolete":false,"parents":["HP:0032680","HP:0033347"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Illusory aura"},{"scope":"EXACT","text":"Illusory auras"}]} +{"alt_ids":[],"definition":"EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.","id":"HP:0012009","name":"EEG with central focal spike waves","obsolete":false,"parents":["HP:0011197","HP:0033718"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.","id":"HP:0012010","name":"EEG with frontal focal spike waves","obsolete":false,"parents":["HP:0011197","HP:0033716"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.","id":"HP:0012011","name":"EEG with occipital focal spike waves","obsolete":false,"parents":["HP:0011197","HP:0033720"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.","id":"HP:0012012","name":"EEG with parietal focal spike waves","obsolete":false,"parents":["HP:0011197","HP:0033719"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.","id":"HP:0012013","name":"EEG with temporal focal spike waves","obsolete":false,"parents":["HP:0011197","HP:0033717"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG with focal sharp transient waves of a duration less than 80 msec in the central region.","id":"HP:0012014","name":"EEG with central focal spikes","obsolete":false,"parents":["HP:0011193","HP:0033718"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region.","id":"HP:0012015","name":"EEG with frontal focal spikes","obsolete":false,"parents":["HP:0011193","HP:0033716"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region.","id":"HP:0012016","name":"EEG with occipital focal spikes","obsolete":false,"parents":["HP:0011193","HP:0033720"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region.","id":"HP:0012017","name":"EEG with parietal focal spikes","obsolete":false,"parents":["HP:0011193","HP:0033719"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region.","id":"HP:0012018","name":"EEG with temporal focal spikes","obsolete":false,"parents":["HP:0011193","HP:0033717"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Complete dislocation of the lens of the eye.","id":"HP:0012019","name":"Lens luxation","obsolete":false,"parents":["HP:0001083"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Completely dislocated lens"},{"scope":"EXACT","text":"Completely dislocated lenses"}]} +{"alt_ids":[],"definition":"Aorta descends on right instead of on the left.","id":"HP:0012020","name":"Right aortic arch","obsolete":false,"parents":["HP:0011587"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Right-sided aortic arch"}]} +{"alt_ids":[],"definition":"Persistence of blood flow through the ductus venosus for longer than the normal time after birth.","id":"HP:0012021","name":"Persistent patent ductus venosus","obsolete":false,"parents":["HP:0034190"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver).","id":"HP:0012022","name":"Congenital portosystemic venous shunt","obsolete":false,"parents":["HP:0034190"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Elevated concentration of galactose in the urine.","id":"HP:0012023","name":"Galactosuria","obsolete":false,"parents":["HP:0031979"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased urinary galactose level"}]} +{"alt_ids":[],"definition":"The concentration of galactose in the blood circulation is above the upper limit of normal.","id":"HP:0012024","name":"Hypergalactosemia","obsolete":false,"parents":["HP:0020347"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating galactose concentration"},{"scope":"EXACT","text":"Elevated galactose concentration"},{"scope":"EXACT","text":"Elevated galactose level"},{"scope":"EXACT","text":"Elevated galactose level in blood"},{"scope":"RELATED","text":"Galactosemia"},{"scope":"EXACT","text":"Increased galactose concentration"},{"scope":"EXACT","text":"Increased galactose level"},{"scope":"EXACT","text":"Increased galactose level in blood"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of ornithine in the blood circulation.","id":"HP:0012025","name":"Abnormal circulating ornithine concentration","obsolete":false,"parents":["HP:0033109"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal ornithine level"}]} +{"alt_ids":[],"definition":"The concentration of ornithine in the blood circulation is above the upper limit of normal.","id":"HP:0012026","name":"Hyperornithinemia","obsolete":false,"parents":["HP:0012025"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated ornithine concentration"},{"scope":"EXACT","text":"Elevated ornithine level"},{"scope":"EXACT","text":"Elevated ornithine level in blood"},{"scope":"EXACT","text":"High blood ornithine levels"},{"scope":"EXACT","text":"Increased ornithine concentration"},{"scope":"EXACT","text":"Increased ornithine level"},{"scope":"EXACT","text":"Increased ornithine level in blood"}]} +{"alt_ids":[],"definition":"An abnormal accumulation of fluid and swelling in the tissues of the larynx.","id":"HP:0012027","name":"Laryngeal edema","obsolete":false,"parents":["HP:0000969","HP:0025423"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Laryngeal oedema"}]} +{"alt_ids":[],"definition":"A benign tumor of the liver of presumably epithelial origin.","id":"HP:0012028","name":"Hepatocellular adenoma","obsolete":false,"parents":["HP:0002896"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hepatic adenoma"},{"scope":"EXACT","text":"Liver cell adenoma"}]} +{"alt_ids":[],"definition":"The amount of an steroid metabolite in the urine, normalized for urine concentration, is outside the limits of normal.","id":"HP:0012029","name":"Abnormal urine steroid level","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of urine hormone level"}]} +{"alt_ids":[],"definition":"Abnormally increased concentration of cortisol in the urine.","id":"HP:0012030","name":"Increased urinary cortisol level","obsolete":false,"parents":["HP:0012029"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High urine cortisol level"}]} +{"alt_ids":[],"definition":null,"id":"HP:0012031","name":"Lipomatous tumor","obsolete":false,"parents":["HP:0200013"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lipomatous tumour"}]} +{"alt_ids":[],"definition":"Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.","id":"HP:0012032","name":"Lipoma","obsolete":false,"parents":["HP:0012031"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fatty lump"},{"scope":"EXACT","text":"Noncancerous fatty lump"}]} +{"alt_ids":[],"definition":"Presence of a lipoma in the region of the sacrum.","id":"HP:0012033","name":"Sacral lipoma","obsolete":false,"parents":["HP:6000590"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway.","id":"HP:0012034","name":"Liposarcoma","obsolete":false,"parents":["HP:0012031"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities).","id":"HP:0012035","name":"Steatocystoma multiplex","obsolete":false,"parents":["HP:0008069"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head.","id":"HP:0012036","name":"Sternocleidomastoid amyotrophy","obsolete":false,"parents":["HP:0003202"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor. This finding is often manifested by prominent axillary creases or double axillary creases.","id":"HP:0012037","name":"Pectoralis amyotrophy","obsolete":false,"parents":["HP:0003202","HP:0011957"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wasting of pec muscles"}]} +{"alt_ids":[],"definition":"Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible.","id":"HP:0012038","name":"Corneal guttata","obsolete":false,"parents":["HP:0011490"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Corneal endothelial guttata"},{"scope":"EXACT","text":"Corneal guttae"}]} +{"alt_ids":[],"definition":"Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea.","id":"HP:0012039","name":"Descemet Membrane Folds","obsolete":false,"parents":["HP:0011490"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal accumulation of fluid and swelling of the stroma of cornea.","id":"HP:0012040","name":"Corneal stromal edema","obsolete":false,"parents":["HP:0000969","HP:0011492"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Corneal stromal oedema"}]} +{"alt_ids":[],"definition":null,"id":"HP:0012041","name":"Decreased fertility in males","obsolete":false,"parents":["HP:0000144"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased fertility in males"}]} +{"alt_ids":[],"definition":"A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction.","id":"HP:0012042","name":"Aspirin-induced asthma","obsolete":false,"parents":["HP:0002099"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aspirin-induced asthma"}]} +{"alt_ids":[],"definition":"Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.","id":"HP:0012043","name":"Pendular nystagmus","obsolete":false,"parents":["HP:0000639"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Nystagmus, continuous pendular"},{"scope":"RELATED","text":"Nystagmus, pendular"}]} +{"alt_ids":[],"definition":"Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements.","id":"HP:0012044","name":"Seesaw nystagmus","obsolete":false,"parents":["HP:0012043"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.","id":"HP:0012045","name":"Retinal flecks","obsolete":false,"parents":["HP:0030506"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inability to elicit tendon reflexes in the upper limbs.","id":"HP:0012046","name":"Areflexia of upper limbs","obsolete":false,"parents":["HP:0001284","HP:0002817"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness.","id":"HP:0012047","name":"Hemeralopia","obsolete":false,"parents":["HP:0000504"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Day blindness"}]} +{"alt_ids":["HP:0001494"],"definition":"A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech.","id":"HP:0012048","name":"Oromandibular dystonia","obsolete":false,"parents":["HP:0012179"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cranial dystonia"}]} +{"alt_ids":[],"definition":"A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech.","id":"HP:0012049","name":"Laryngeal dystonia","obsolete":false,"parents":["HP:0001618","HP:0004373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spasmodic dysphonia"}]} +{"alt_ids":[],"definition":"An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space.","id":"HP:0012050","name":"Anasarca","obsolete":false,"parents":["HP:0007430"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extreme generalised oedema"},{"scope":"EXACT","text":"Extreme generalized edema"}]} +{"alt_ids":[],"definition":"Hypoglycermia following a meal (or more generally, after intake of glucose).","id":"HP:0012051","name":"Reactive hypoglycemia","obsolete":false,"parents":["HP:0001943"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low blood sugar after a meal"},{"scope":"EXACT","text":"Postprandial hypoglycemia"}]} +{"alt_ids":[],"definition":"The concentration of calcitriol in the blood circulation is below the lower limit of normal.","id":"HP:0012052","name":"Decreased circulating calcitriol concentration","obsolete":false,"parents":["HP:0100511"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low serum 1,25-dihydroxycholecalciferol"},{"scope":"EXACT","text":"Low serum 1,25-dihydroxyvitamin D3"},{"scope":"EXACT","text":"Low serum calcitriol"}]} +{"alt_ids":[],"definition":"A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3.","id":"HP:0012053","name":"Decreased circulating calcifediol concentration","obsolete":false,"parents":["HP:0100511"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased 25-hydroxyvitamin D3"},{"scope":"EXACT","text":"Low serum 25-hydroxycholecalciferol"},{"scope":"EXACT","text":"Low serum calcidiol"},{"scope":"EXACT","text":"Low serum calcifediol"}]} +{"alt_ids":[],"definition":"Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented).","id":"HP:0012054","name":"Choroidal melanoma","obsolete":false,"parents":["HP:0007716"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Malignant tumor of melanocytes of the ciliary body.","id":"HP:0012055","name":"Ciliary body melanoma","obsolete":false,"parents":["HP:0007716","HP:0012776"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a melanoma of the skin.","id":"HP:0012056","name":"Cutaneous melanoma","obsolete":false,"parents":["HP:0002861","HP:0008069"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown.","id":"HP:0012057","name":"Superficial spreading melanoma","obsolete":false,"parents":["HP:0012056"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color.","id":"HP:0012058","name":"Nodular melanoma","obsolete":false,"parents":["HP:0012056"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging.","id":"HP:0012059","name":"Lentigo maligna melanoma","obsolete":false,"parents":["HP:0012056"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discolored skin and usually displays a size above 6 mm and often several centimeters or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed.","id":"HP:0012060","name":"Acral lentiginous melanoma","obsolete":false,"parents":["HP:0012056"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excretion of oligosaccharides conjugated to sialic acid in the urine.","id":"HP:0012061","name":"Urinary excretion of sialylated oligosaccharides","obsolete":false,"parents":["HP:0010471"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased urinary sialyloligosaccharides"}]} +{"alt_ids":["HP:0100696"],"definition":"A fluid filled cavity that develops with a bone.","id":"HP:0012062","name":"Bone cyst","obsolete":false,"parents":["HP:0003330"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bone cyst"},{"scope":"EXACT","text":"Bone cysts"}]} +{"alt_ids":[],"definition":"Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging.","id":"HP:0012063","name":"Aneurysmal bone cyst","obsolete":false,"parents":["HP:0012062"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign fluid filled simple cyst of bone filled with serous fluid.","id":"HP:0012064","name":"Unicameral bone cyst","obsolete":false,"parents":["HP:0012062"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of multiple cystic changes in multiple areas or multiple bones.","id":"HP:0012065","name":"Multiple bony cystic lesions","obsolete":false,"parents":["HP:0012062"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multiple bony cystic lesions"}]} +{"alt_ids":[],"definition":"Increased concentration of disaccharide in the urine.","id":"HP:0012066","name":"Increased urinary disaccharide excretion","obsolete":false,"parents":["HP:0010471"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues.","id":"HP:0012067","name":"Glycopeptiduria","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High urine glycopeptide levels"}]} +{"alt_ids":[],"definition":"Excretion of excess amounts of aspartylglucosamine in the urine.","id":"HP:0012068","name":"Aspartylglucosaminuria","obsolete":false,"parents":["HP:0012067"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High urine aspartylglucosamine levels"}]} +{"alt_ids":[],"definition":"An increased concentration of keratan sulfate in the urine.","id":"HP:0012069","name":"Keratan sulfate excretion in urine","obsolete":false,"parents":["HP:0008155"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Keratan sulphate excretion in urine"}]} +{"alt_ids":[],"definition":"An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine.","id":"HP:0012070","name":"Chondroitin sulfate excretion in urine","obsolete":false,"parents":["HP:0008155"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chondroitin sulphate excretion in urine"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of fatty acylcarnitine in the blood circulation.","id":"HP:0012071","name":"Abnormal circulating fatty acylcarnitine concentration","obsolete":false,"parents":["HP:0010966"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormal acetylcarnitine profile"},{"scope":"EXACT","text":"Abnormal circulating esterified carnitine concentration"},{"scope":"EXACT","text":"Abnormal fatty acylcarnitine level"}]} +{"alt_ids":[],"definition":"Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration.","id":"HP:0012072","name":"Aciduria","obsolete":false,"parents":["HP:0032943"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acidic urine"}]} +{"alt_ids":[],"definition":"An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution.","id":"HP:0012073","name":"Abnormal urinary acylglycine profile","obsolete":false,"parents":["HP:0033097"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation.","id":"HP:0012074","name":"Tonic pupil","obsolete":false,"parents":["HP:0007686"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Adie pupil"},{"scope":"EXACT","text":"Adie's tonic pupil"}]} +{"alt_ids":[],"definition":"A personality disorder is a deeply ingrained pattern of behavior of a specified kind that deviates markedly from the norms of generally accepted behavior. It is typically apparent by the time of adolescence and causes long-term difficulties in personal relationships or functioning in society.","id":"HP:0012075","name":"Personality disorder","obsolete":false,"parents":["HP:0031466"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A personality disorder characterized by impulsive behavior and unpredictable, capricious mood. Affected individuals show a tendency to have outbursts of emotion and an inability to control these behavioral explosions. They generally experience an intense fear of abandonment or instability and also struggle with feelings of emptiness.","id":"HP:0012076","name":"Borderline personality disorder","obsolete":false,"parents":["HP:0012075"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"BPD"},{"scope":"EXACT","text":"EUPD"},{"scope":"EXACT","text":"Emotionally unstable personality disorder"}]} +{"alt_ids":[],"definition":"A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention.","id":"HP:0012077","name":"Histrionic personality disorder","obsolete":false,"parents":["HP:0012075"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Blockade of impulses at a focal site along the course of a motor axon.","id":"HP:0012078","name":"Motor conduction block","obsolete":false,"parents":["HP:0000762","HP:0040131"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly of the conduction of motor nerve impulses in the central nervous system.","id":"HP:0012079","name":"Abnormality of central motor conduction","obsolete":false,"parents":["HP:0011442"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Atrophy of the cerebellum affecting primarily the granular cell layer.","id":"HP:0012080","name":"Cerebellar granular layer atrophy","obsolete":false,"parents":["HP:0001272"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased size of the cerebellum compared to other brain structures.","id":"HP:0012081","name":"Enlarged cerebellum","obsolete":false,"parents":["HP:0001317"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Atrophy of the cerebellum affecting primarily the Purkinje cell layer.","id":"HP:0012082","name":"Cerebellar Purkinje layer atrophy","obsolete":false,"parents":["HP:0001272"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain.","id":"HP:0012083","name":"Ubiquitin-positive cerebral inclusion bodies","obsolete":false,"parents":["HP:0100314"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality of the size of the skeletal muscle cell.","id":"HP:0012084","name":"Abnormality of skeletal muscle fiber size","obsolete":false,"parents":["HP:0004303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of skeletal muscle fibre size"}]} +{"alt_ids":[],"definition":"The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase.","id":"HP:0012085","name":"Pyuria","obsolete":false,"parents":["HP:0012614"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High urine neutrophil count"},{"scope":"RELATED","text":"Leukocyturia"}]} +{"alt_ids":[],"definition":"An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color.","id":"HP:0012086","name":"Abnormal urinary color","obsolete":false,"parents":["HP:0033072"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal urinary color"},{"scope":"EXACT","text":"Abnormal urine color"},{"scope":"EXACT","text":"Abnormal urine colour"}]} +{"alt_ids":[],"definition":"An anomaly in the surface contour of mitochondria.","id":"HP:0012087","name":"Abnormal mitochondrial shape","obsolete":false,"parents":["HP:0008322"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal odor of the urine.","id":"HP:0012088","name":"Abnormal urinary odor","obsolete":false,"parents":["HP:0033072"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal urinary odor"},{"scope":"EXACT","text":"Abnormal urine smell"}]} +{"alt_ids":[],"definition":"Arterial inflammation.","id":"HP:0012089","name":"Arteritis","obsolete":false,"parents":["HP:0011004"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inflammation of artery"}]} +{"alt_ids":[],"definition":null,"id":"HP:0012090","name":"Abnormal pancreas morphology","obsolete":false,"parents":["HP:0001732"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of pancreas morphology"},{"scope":"EXACT","text":"Abnormally shaped pancreas"}]} +{"alt_ids":[],"definition":"An anomaly of the function of the pancreas.","id":"HP:0012091","name":"Abnormality of pancreas physiology","obsolete":false,"parents":["HP:0001732"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes.","id":"HP:0012092","name":"Abnormality of exocrine pancreas physiology","obsolete":false,"parents":["HP:0012091"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal exocrine pancreatic function"}]} +{"alt_ids":[],"definition":"A function abnormality of the endocrine pancreas.","id":"HP:0012093","name":"Abnormality of endocrine pancreas physiology","obsolete":false,"parents":["HP:0000818","HP:0012091"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal size of the pancreas.","id":"HP:0012094","name":"Abnormal pancreas size","obsolete":false,"parents":["HP:0012090"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal pancreas size"}]} +{"alt_ids":[],"definition":"Dislocation of many joints.","id":"HP:0012095","name":"Multiple joint dislocation","obsolete":false,"parents":["HP:0001373"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Multiple joint dislocations"}]} +{"alt_ids":[],"definition":"A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development.","id":"HP:0012096","name":"Intracranial epidermoid cyst","obsolete":false,"parents":["HP:0010576"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands.","id":"HP:0012097","name":"Intracranial dermoid cyst","obsolete":false,"parents":["HP:0010576"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal accumulation of fluid beneath the skin on the back of the feet.","id":"HP:0012098","name":"Edema of the dorsum of feet","obsolete":false,"parents":["HP:0010741"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Edema of dorsum of feet"},{"scope":"EXACT","text":"Oedema of dorsum of feet"},{"scope":"EXACT","text":"Oedema of the dorsum of feet"}]} +{"alt_ids":[],"definition":"An abnormal catecholamine concentration in the blood.","id":"HP:0012099","name":"Abnormal circulating catecholamine concentration","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal catecholamine level"},{"scope":"EXACT","text":"Catecholamine levels abnormal"}]} +{"alt_ids":[],"definition":"An abnormal concentration of creatinine in the blood.","id":"HP:0012100","name":"Abnormal circulating creatinine concentration","obsolete":false,"parents":["HP:0004364"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal blood creatinine level"},{"scope":"EXACT","text":"Abnormal circulating creatinine level"},{"scope":"EXACT","text":"Creatinine levels abnormal"}]} +{"alt_ids":[],"definition":"An abnormally reduced amount of creatinine in the blood.","id":"HP:0012101","name":"Decreased serum creatinine","obsolete":false,"parents":["HP:0012100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased serum creatinine"},{"scope":"EXACT","text":"Low blood creatinine level"},{"scope":"EXACT","text":"Reduced creatinine levels"}]} +{"alt_ids":[],"definition":"A deviation from the normal number of mitochondria per cell.","id":"HP:0012102","name":"Abnormal mitochondrial number","obsolete":false,"parents":["HP:0008322"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration.","id":"HP:0012103","name":"Abnormality of the mitochondrion","obsolete":false,"parents":["HP:0011017"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Mitochondrial abnormalities"}]} +{"alt_ids":[],"definition":"Atrophy of the parietal cortex.","id":"HP:0012104","name":"Parietal cortical atrophy","obsolete":false,"parents":["HP:0002120"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Atrophy of the occipital cortex.","id":"HP:0012105","name":"Occipital cortical atrophy","obsolete":false,"parents":["HP:0002120"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Disproportionate shortening of the proximal segment of the leg (i.e. the femur).","id":"HP:0012106","name":"Rhizomelic leg shortening","obsolete":false,"parents":["HP:0008905"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0200082"],"definition":"Increased width of the cross sectional diameter of the 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glaucoma"},{"scope":"EXACT","text":"Narrow angle glaucoma"},{"scope":"RELATED","text":"Primary angle closure glaucoma"}]} +{"alt_ids":[],"definition":"Underdevelopment of the pons.","id":"HP:0012110","name":"Hypoplasia of the pons","obsolete":false,"parents":["HP:0002977","HP:0007361"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pontine hypoplasia"}]} +{"alt_ids":[],"definition":"An abnormality of the concentration of a glucocorticoid in the blood.","id":"HP:0012111","name":"Abnormality of circulating glucocorticoid level","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the concentration of corticosterone in the blood.","id":"HP:0012112","name":"Abnormal circulating corticosterone level","obsolete":false,"parents":["HP:0012111"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of circulating corticosterone level"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of creatine in the blood circulation.","id":"HP:0012113","name":"Abnormal circulating creatine concentration","obsolete":false,"parents":["HP:0430071"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal creatine level"},{"scope":"EXACT","text":"Abnormality of creatine metabolism"},{"scope":"RELATED","text":"Creatine metabolism abnormal"}]} +{"alt_ids":[],"definition":"A carcinoma of the endometrium, the mucous lining of the uterus.","id":"HP:0012114","name":"Endometrial carcinoma","obsolete":false,"parents":["HP:0010784","HP:0030126"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the liver.","id":"HP:0012115","name":"Hepatitis","obsolete":false,"parents":["HP:0012649","HP:0410042"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Liver inflammation"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of albumin in the blood circulation.","id":"HP:0012116","name":"Abnormal circulating albumin 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larynx.","id":"HP:0012118","name":"Laryngeal carcinoma","obsolete":false,"parents":["HP:0100605"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cancer of the larynx"},{"scope":"EXACT","text":"Laryngeal cancer"}]} +{"alt_ids":[],"definition":"Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues.","id":"HP:0012119","name":"Methemoglobinemia","obsolete":false,"parents":["HP:0011902"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased concentration of methylmalonic acid in the urine.","id":"HP:0012120","name":"Methylmalonic aciduria","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High blood methylmalonic acid levels"},{"scope":"EXACT","text":"Methymalonicaciduria"}]} +{"alt_ids":[],"definition":"Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid.","id":"HP:0012121","name":"Panuveitis","obsolete":false,"parents":["HP:0000554"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber.","id":"HP:0012122","name":"Anterior uveitis","obsolete":false,"parents":["HP:0000554"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid.","id":"HP:0012123","name":"Posterior uveitis","obsolete":false,"parents":["HP:0000554"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Choroiditis"}]} +{"alt_ids":[],"definition":"Inflammation of the uveal tract in which the primary site of inflammation is the vitreous.","id":"HP:0012124","name":"Intermediate uveitis","obsolete":false,"parents":["HP:0000554"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A cancer of the prostate.","id":"HP:0012125","name":"Prostate cancer","obsolete":false,"parents":["HP:0100787"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prostatic cancer"}]} +{"alt_ids":[],"definition":"A cancer arising in any part of the stomach.","id":"HP:0012126","name":"Stomach cancer","obsolete":false,"parents":["HP:0006753"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gastric cancer"}]} +{"alt_ids":[],"definition":"Increased concentration of uracil in the urine.","id":"HP:0012127","name":"Uraciluria","obsolete":false,"parents":["HP:0033162"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High urine uracil levels"}]} +{"alt_ids":[],"definition":"Death of cells in the basal ganglia. This finding can be confirmed by autopsy. It can be suspected with hyperintensities within the basal ganglia on FLAIR and T2-sequences on magnetic resonance imaging.","id":"HP:0012128","name":"Basal ganglia necrosis","obsolete":false,"parents":["HP:0002134"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0012129","name":"Abnormality of bone marrow stromal cells","obsolete":false,"parents":["HP:0005561"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes.","id":"HP:0012130","name":"Abnormal erythroid lineage cell morphology","obsolete":false,"parents":["HP:0005561"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of cells of the erythroid lineage"}]} +{"alt_ids":[],"definition":"A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.","id":"HP:0012131","name":"Abnormal number of erythroid precursors","obsolete":false,"parents":["HP:0001877"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.","id":"HP:0012132","name":"Erythroid hyperplasia","obsolete":false,"parents":["HP:0012131"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Bone marrow biopsy shows erythroid hyperplasia"},{"scope":"RELATED","text":"Bone marrow smear shows erythroid hyperplasia"}]} +{"alt_ids":[],"definition":"Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.","id":"HP:0012133","name":"Erythroid hypoplasia","obsolete":false,"parents":["HP:0012131"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Erythroblastopenia"},{"scope":"RELATED","text":"Erythroid hypoplasia in the bone marrow"}]} +{"alt_ids":[],"definition":null,"id":"HP:0012134","name":"Dysplastic erythropoesis","obsolete":false,"parents":["HP:0001877"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell.","id":"HP:0012135","name":"Abnormal granulocytopoietic cell morphology","obsolete":false,"parents":["HP:0005561"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of cells of the granulocytic lineage"}]} +{"alt_ids":[],"definition":null,"id":"HP:0012136","name":"Dysplastic granulopoesis","obsolete":false,"parents":["HP:0012135"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0012137","name":"Abnormal number of granulocyte precursors","obsolete":false,"parents":["HP:0012135"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0012138","name":"Granulocytic hyperplasia","obsolete":false,"parents":["HP:0012137"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased number of granulocyte precursors in the bone marrow.","id":"HP:0012139","name":"Granulocytic hypoplasia","obsolete":false,"parents":["HP:0012137"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0012140","name":"obsolete Abnormality of cells of the lymphoid lineage","obsolete":true,"parents":[],"replaced_by":["HP:0004332"],"synonyms":[]} +{"alt_ids":[],"definition":"A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium.","id":"HP:0012142","name":"Pancreatic squamous cell carcinoma","obsolete":false,"parents":["HP:0002894"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Squamous cell carcinoma of the pancreas"}]} +{"alt_ids":[],"definition":"Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.","id":"HP:0012143","name":"Abnormal megakaryocyte morphology","obsolete":false,"parents":["HP:0005561"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of cells of the megakaryocyte lineage"}]} +{"alt_ids":[],"definition":"Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.","id":"HP:0012144","name":"Abnormal monocyte morphology","obsolete":false,"parents":["HP:0010974"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0012145","name":"Abnormality of multiple cell lineages in the bone marrow","obsolete":false,"parents":["HP:0005561"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.","id":"HP:0012146","name":"Abnormality of von Willebrand factor","obsolete":false,"parents":["HP:0003256"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased quantity of von Willebrand factor.","id":"HP:0012147","name":"Reduced quantity of Von Willebrand factor","obsolete":false,"parents":["HP:0012146"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Decreased von Willebrand factor"}]} +{"alt_ids":[],"definition":"Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic.","id":"HP:0012148","name":"Multiple lineage myelodysplasia","obsolete":false,"parents":["HP:0002863"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic.","id":"HP:0012149","name":"Bilineage myelodysplasia","obsolete":false,"parents":["HP:0002863"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic).","id":"HP:0012150","name":"Single lineage myelodysplasia","obsolete":false,"parents":["HP:0002863"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of blood in the pleural space.","id":"HP:0012151","name":"Hemothorax","obsolete":false,"parents":["HP:0002103"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Splitting of the retinal layers in the macula and involving the fovea.","id":"HP:0012152","name":"Foveoschisis","obsolete":false,"parents":["HP:0000493","HP:0030502"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Retinoschisis involving the fovea"}]} +{"alt_ids":[],"definition":"The concentration of triglyceride in the blood circulation is below the lower limit of normal.","id":"HP:0012153","name":"Hypotriglyceridemia","obsolete":false,"parents":["HP:0045014"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating Tg levels"},{"scope":"EXACT","text":"Decreased plasma Tg levels"},{"scope":"EXACT","text":"Decreased triglyceride concentration"},{"scope":"EXACT","text":"Decreased triglyceride level"},{"scope":"EXACT","text":"Decreased triglyceride level in blood"},{"scope":"EXACT","text":"Low blood triglyceride levels"},{"scope":"EXACT","text":"Reduced triglyceride concentration"},{"scope":"EXACT","text":"Reduced triglyceride level"},{"scope":"EXACT","text":"Reduced triglyceride level in blood"}]} +{"alt_ids":[],"definition":"Decreased ability or inability to experience, feel, or anticipate pleasure from activities, experiences, or stimuli that are typically found pleasurable by the individual. This may involve diminished enjoyment of previously rewarding experiences (e.g., hobbies, social interactions, or sexual activity) or reduced pleasure in response to stimuli processed through the senses (e.g., music, food, or tactile contact). Anhedonia is a disruption in the capacity to derive emotional reward and is not due to primary sensory deficits or medical conditions (e.g., anosmia from viral illness). The phenomenon involves altered affective processing rather than impaired sensory perception.","id":"HP:0012154","name":"Anhedonia","obsolete":false,"parents":["HP:0031467"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anhedonic"},{"scope":"BROAD","text":"Diminished capacity for joy"},{"scope":"EXACT","text":"Diminished pleasure response"},{"scope":"EXACT","text":"Inability to experience pleasure"},{"scope":"EXACT","text":"Loss of ability to enjoy things"},{"scope":"BROAD","text":"Loss of enjoyment"},{"scope":"EXACT","text":"Loss of interest in pleasurable activities"},{"scope":"BROAD","text":"Reduced pleasure response"}]} +{"alt_ids":[],"definition":"Reduced ability of the cornea to respond to stimulation.","id":"HP:0012155","name":"Decreased corneal sensation","obsolete":false,"parents":["HP:0012373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Corneal hypaesthesia"},{"scope":"EXACT","text":"Corneal hypesthesia"},{"scope":"RELATED","text":"Decreased corneal sensitivity"},{"scope":"EXACT","text":"Reduced corneal sensation"}]} +{"alt_ids":[],"definition":"Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.","id":"HP:0012156","name":"Hemophagocytosis","obsolete":false,"parents":["HP:0004311"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter.","id":"HP:0012157","name":"Subcortical cerebral atrophy","obsolete":false,"parents":["HP:0007369"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A separation (dissection) of the layers of the carotid artery wall.","id":"HP:0012158","name":"Carotid artery dissection","obsolete":false,"parents":["HP:0005344"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A separation (dissection) of the layers of the internal carotid artery wall.","id":"HP:0012159","name":"Internal carotid artery dissection","obsolete":false,"parents":["HP:0012158"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall.","id":"HP:0012160","name":"Intracranial internal carotid artery dissection","obsolete":false,"parents":["HP:0012159"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A separation (dissection) of the layers of the external carotid artery wall.","id":"HP:0012161","name":"External carotid artery dissection","obsolete":false,"parents":["HP:0012158"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A separation (dissection) of the layers of the common carotid artery wall.","id":"HP:0012162","name":"Common carotid artery dissection","obsolete":false,"parents":["HP:0012158"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A dilatation (balooning or bulging out of the vessel wall) of a carotid artery.","id":"HP:0012163","name":"Carotid artery dilatation","obsolete":false,"parents":["HP:0005344"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Carotid artery aneurysm"}]} +{"alt_ids":[],"definition":"A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints.","id":"HP:0012164","name":"Asterixis","obsolete":false,"parents":["HP:0100022"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect resulting in the presence of fewer than the normal number of digits.","id":"HP:0012165","name":"Oligodactyly","obsolete":false,"parents":["HP:0011297"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Repetitive and compulsive picking of skin which results in tissue damage.","id":"HP:0012166","name":"Skin-picking","obsolete":false,"parents":["HP:0100716"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Compulsive skin picking"},{"scope":"EXACT","text":"Dermatillomania"}]} +{"alt_ids":[],"definition":"A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss.","id":"HP:0012167","name":"Hair-pulling","obsolete":false,"parents":["HP:0100716"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Trichotillomania"}]} +{"alt_ids":[],"definition":"Habitual striking of one's own head against a surface such as a mattress or wall of a crib.","id":"HP:0012168","name":"Head-banging","obsolete":false,"parents":["HP:0100716","HP:5200017"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Habitual biting of one's own body.","id":"HP:0012169","name":"Self-biting","obsolete":false,"parents":["HP:0100716"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Habitual biting of one's own 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more.","id":"HP:0012173","name":"Orthostatic tachycardia","obsolete":false,"parents":["HP:0012332"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Postural tachycardia"}]} +{"alt_ids":["HP:0100843"],"definition":"A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation.","id":"HP:0012174","name":"Glioblastoma multiforme","obsolete":false,"parents":["HP:0009733"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Glioblastoma"}]} +{"alt_ids":[],"definition":"Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay.","id":"HP:0012175","name":"Resistance to activated protein C","obsolete":false,"parents":["HP:0030780"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Activated protein C resistance"}]} +{"alt_ids":[],"definition":"An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells.","id":"HP:0012176","name":"Abnormal natural killer cell morphology","obsolete":false,"parents":["HP:0004332"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal NK cells"},{"scope":"EXACT","text":"Abnormality of natural killer cells"}]} +{"alt_ids":["HP:0012178"],"definition":"Abnormal response of natural killer (NK) cells to stimuli.","id":"HP:0012177","name":"Abnormal natural killer cell physiology","obsolete":false,"parents":["HP:0031409"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal NK cell physiology"},{"scope":"EXACT","text":"Reduced natural killer cell activity"}]} +{"alt_ids":[],"definition":null,"id":"HP:0012178","name":"obsolete Reduced natural killer cell activity","obsolete":true,"parents":[],"replaced_by":["HP:0012177"],"synonyms":[]} +{"alt_ids":[],"definition":"A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia.","id":"HP:0012179","name":"Craniofacial dystonia","obsolete":false,"parents":["HP:0004373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal craniofacial muscle tone"},{"scope":"BROAD","text":"Abnormal craniofacial posture"},{"scope":"NARROW","text":"Abnormal facial muscle tone"},{"scope":"BROAD","text":"Distorted craniofacial posture"},{"scope":"NARROW","text":"Facial Dystonia"}]} +{"alt_ids":["HP:0200145"],"definition":"A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells.","id":"HP:0012180","name":"Cystic medial necrosis","obsolete":false,"parents":["HP:0011004"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Arterial cystic medial necrosis"}]} +{"alt_ids":[],"definition":"Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss.","id":"HP:0012181","name":"Entrapment neuropathy","obsolete":false,"parents":["HP:0009830"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A squamous cell carcinoma that originates in the oropharnyx.","id":"HP:0012182","name":"Oropharyngeal squamous cell carcinoma","obsolete":false,"parents":["HP:0002860"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation.","id":"HP:0012183","name":"Hyperplastic colonic polyposis","obsolete":false,"parents":["HP:0030255"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of high-density lipoprotein cholesterol in the blood circulation is above the upper limit of normal.","id":"HP:0012184","name":"Elevated circulating HDL-C concentration","obsolete":false,"parents":["HP:0010980","HP:0031888"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated high-density lipoprotein cholesterol concentration"},{"scope":"EXACT","text":"Elevated high-density lipoprotein cholesterol level"},{"scope":"EXACT","text":"Elevated high-density lipoprotein cholesterol level in blood"},{"scope":"EXACT","text":"High blood HDL level"},{"scope":"EXACT","text":"Hyperalphalipoproteinemia"},{"scope":"EXACT","text":"Increased circulating high-density lipoprotein levels"},{"scope":"EXACT","text":"Increased high-density lipoprotein cholesterol concentration"},{"scope":"EXACT","text":"Increased high-density lipoprotein cholesterol level"},{"scope":"EXACT","text":"Increased high-density lipoprotein cholesterol level in blood"}]} +{"alt_ids":[],"definition":"Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand.","id":"HP:0012185","name":"Constrictive median neuropathy","obsolete":false,"parents":["HP:0012181"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Carpal tunnel syndrome"}]} +{"alt_ids":[],"definition":"An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand.","id":"HP:0012186","name":"Entrapment neuropathy of the ulnar nerve at elbow","obsolete":false,"parents":["HP:0012181"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cubital tunnel syndrome"}]} +{"alt_ids":[],"definition":"Concentration of protoporphyrins in erythrocytes above the upper limit of normal.","id":"HP:0012187","name":"Increased erythrocyte protoporphyrin concentration","obsolete":false,"parents":["HP:0034606"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight.","id":"HP:0012188","name":"Hyperemesis gravidarum","obsolete":false,"parents":["HP:0002686"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells.","id":"HP:0012189","name":"Hodgkin lymphoma","obsolete":false,"parents":["HP:0002665"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hodgkin disease"},{"scope":"EXACT","text":"Hodgkin's lymphoma"}]} +{"alt_ids":[],"definition":"A type of lymphoma that originates in T-cells.","id":"HP:0012190","name":"T-cell lymphoma","obsolete":false,"parents":["HP:0012539"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"T cell lymphoma"}]} +{"alt_ids":[],"definition":"A type of lymphoma that originates in B-cells.","id":"HP:0012191","name":"B-cell lymphoma","obsolete":false,"parents":["HP:0012539"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"B cell lymphoma"}]} +{"alt_ids":[],"definition":"A type of T-cell lymphoma that exhibits malignant infiltration of the skin.","id":"HP:0012192","name":"Cutaneous T-cell lymphoma","obsolete":false,"parents":["HP:0012190"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei.","id":"HP:0012193","name":"Anaplastic large-cell lymphoma","obsolete":false,"parents":["HP:0012190"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body.","id":"HP:0012194","name":"Episodic hemiplegia","obsolete":false,"parents":["HP:0002301"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Uneven rhythm of breathing.","id":"HP:0012195","name":"Irregular respiration","obsolete":false,"parents":["HP:0002793"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular respiratory rhythm"}]} +{"alt_ids":[],"definition":"An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes.","id":"HP:0012196","name":"Cheyne-Stokes respiration","obsolete":false,"parents":["HP:0002793"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cheyne-Stokes breathing"},{"scope":"EXACT","text":"Periodic respiration"}]} +{"alt_ids":[],"definition":"A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia.","id":"HP:0012197","name":"Insulinoma","obsolete":false,"parents":["HP:0008261"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pancreatic insulinoma"}]} +{"alt_ids":[],"definition":"The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands.","id":"HP:0012198","name":"Juvenile colonic polyposis","obsolete":false,"parents":["HP:0004390","HP:0030255"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs.","id":"HP:0012199","name":"Cluster headache","obsolete":false,"parents":["HP:0002315"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade.","id":"HP:0012200","name":"Abnormality of prothrombin","obsolete":false,"parents":["HP:0003256"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0012201","name":"obsolete Reduced prothrombin activity","obsolete":true,"parents":[],"replaced_by":["HP:0008151"],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in the concentration of bile acid in the blood.","id":"HP:0012202","name":"Increased serum bile acid concentration","obsolete":false,"parents":["HP:0030984"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to fungal infection of the nail apparatus (onychomycosis), as manifested by recurrent or severe infection of the nail plate, nail bed, or nail matrix caused by fungal organisms. Causative agents include dermatophytes (Trichophyton species) and Candida species.","id":"HP:0012203","name":"Unusual fungal nail infection","obsolete":false,"parents":["HP:5210236","HP:5210238"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Onychomycosis"},{"scope":"EXACT","text":"Unusual nail candidiasis"},{"scope":"EXACT","text":"Unusual onychomycosis"},{"scope":"EXACT","text":"Unusual tinea unguium"}]} +{"alt_ids":[],"definition":"Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida.","id":"HP:0012204","name":"Recurrent vulvovaginal candidiasis","obsolete":false,"parents":["HP:0002728"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the acrosome resulting in a round sperm head.","id":"HP:0012205","name":"Globozoospermia","obsolete":false,"parents":["HP:0012865"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the mobility of ejaculated sperm.","id":"HP:0012206","name":"Abnormal sperm motility","obsolete":false,"parents":["HP:0034809"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal sperm motility"}]} +{"alt_ids":[],"definition":"An abnormal reduction in the mobility of ejaculated sperm.","id":"HP:0012207","name":"Reduced sperm motility","obsolete":false,"parents":["HP:0012206"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Asthenospermia"},{"scope":"EXACT","text":"Asthenozoospermia"},{"scope":"EXACT","text":"Reduced sperm motility"}]} +{"alt_ids":[],"definition":"A lack of mobility of ejaculated sperm.","id":"HP:0012208","name":"Immotile sperm","obsolete":false,"parents":["HP:0012207"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nonmotile sperm"}]} +{"alt_ids":[],"definition":"Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor.","id":"HP:0012209","name":"Juvenile myelomonocytic leukemia","obsolete":false,"parents":["HP:0012324"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Juvenile myelomonocytic leukaemia"}]} +{"alt_ids":["HP:0000792","HP:0004726","HP:0004735","HP:0008712"],"definition":"Any structural anomaly of the kidney.","id":"HP:0012210","name":"Abnormal renal morphology","obsolete":false,"parents":["HP:0000077"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal kidney morphology"},{"scope":"EXACT","text":"Abnormally shaped kidney"},{"scope":"EXACT","text":"Kidney malformation"},{"scope":"EXACT","text":"Kidney structure issue"},{"scope":"EXACT","text":"Renal malformation"},{"scope":"EXACT","text":"Structural anomalies of the renal tract"},{"scope":"EXACT","text":"Structural kidney abnormalities"},{"scope":"EXACT","text":"Structural renal anomalies"}]} +{"alt_ids":["HP:0000082","HP:0000087","HP:0005566","HP:0008646"],"definition":"An abnormal functionality of the kidney.","id":"HP:0012211","name":"Abnormal renal physiology","obsolete":false,"parents":["HP:0000077","HP:0011277"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal kidney function"},{"scope":"EXACT","text":"Abnormal renal function"},{"scope":"EXACT","text":"Abnormality of renal physiology"},{"scope":"EXACT","text":"Kidney function issue"},{"scope":"EXACT","text":"Renal functional abnormality"}]} +{"alt_ids":[],"definition":"An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.","id":"HP:0012212","name":"Abnormal glomerular filtration rate","obsolete":false,"parents":["HP:0012211"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal GFR"}]} +{"alt_ids":["HP:0000120"],"definition":"An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.","id":"HP:0012213","name":"Decreased glomerular filtration rate","obsolete":false,"parents":["HP:0012212"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased GFR"},{"scope":"EXACT","text":"Impaired renal creatinine clearance"},{"scope":"EXACT","text":"Reduced creatinine clearance"}]} +{"alt_ids":[],"definition":"An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.","id":"HP:0012214","name":"Increased glomerular filtration rate","obsolete":false,"parents":["HP:0012212"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased GFR"}]} +{"alt_ids":[],"definition":"The deposition of calcium phosphate microliths within the seminiferous tubules.","id":"HP:0012215","name":"Testicular microlithiasis","obsolete":false,"parents":["HP:0000035"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region.","id":"HP:0012216","name":"Entrapment neuropathy of suprascapular nerve","obsolete":false,"parents":["HP:0012181"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Suprascapular nerve entrapment"}]} +{"alt_ids":[],"definition":"The concentration of porphobilinogen in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0012217","name":"Increased urinary porphobilinogen","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue.","id":"HP:0012218","name":"Alveolar soft part sarcoma","obsolete":false,"parents":["HP:0030448"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral.","id":"HP:0012219","name":"Erythema nodosum","obsolete":false,"parents":["HP:0011123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese).","id":"HP:0012220","name":"Non-caseating epithelioid cell granulomatosis","obsolete":false,"parents":["HP:5210340"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of blistering that affects the skin of the tibial region.","id":"HP:0012221","name":"Pretibial blistering","obsolete":false,"parents":["HP:0033800"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pretibial epidermolysis bullosa"}]} +{"alt_ids":[],"definition":"The presence of multiple hemangiomas in the arachnoid.","id":"HP:0012222","name":"Arachnoid hemangiomatosis","obsolete":false,"parents":["HP:0001028"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A breach of the capsule of the spleen.","id":"HP:0012223","name":"Splenic rupture","obsolete":false,"parents":["HP:0025408"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ruptured spleen"},{"scope":"EXACT","text":"Splenic rupture"}]} +{"alt_ids":[],"definition":"Persistence of immune complexes in the blood circulation.","id":"HP:0012224","name":"Circulating immune complexes","obsolete":false,"parents":["HP:0005368"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced number of primary teeth.","id":"HP:0012225","name":"Oligodontia of primary teeth","obsolete":false,"parents":["HP:0000677"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Decreased number of baby teeth"},{"scope":"RELATED","text":"Decreased number of deciduous teeth"},{"scope":"RELATED","text":"Decreased number of milk teeth"},{"scope":"RELATED","text":"Decreased number of primary teeth"},{"scope":"EXACT","text":"Failure of development of some deciduous teeth"},{"scope":"EXACT","text":"Failure of development of some primary teeth"},{"scope":"RELATED","text":"Fewer baby teeth than normal"},{"scope":"RELATED","text":"Fewer deciduous teeth than normal"},{"scope":"RELATED","text":"Fewer primary teeth than normal"},{"scope":"RELATED","text":"Missing some baby teeth"},{"scope":"RELATED","text":"Missing some milk teeth"},{"scope":"RELATED","text":"Missing some primary teeth"},{"scope":"EXACT","text":"Partial anodontia of deciduous teeth"},{"scope":"EXACT","text":"Partial anodontia of primary teeth"}]} +{"alt_ids":[],"definition":"The presence of a teratoma in the ovary.","id":"HP:0012226","name":"Ovarian teratoma","obsolete":false,"parents":["HP:0009792","HP:0100615"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Narrowing of the urethra associated with inflammation or scar tissue.","id":"HP:0012227","name":"Urethral stricture","obsolete":false,"parents":["HP:0008661"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs.","id":"HP:0012228","name":"Tension-type headache","obsolete":false,"parents":["HP:0002315"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tension-type headache"}]} +{"alt_ids":[],"definition":"An increased white blood cell count in the cerebrospinal fluid.","id":"HP:0012229","name":"CSF pleocytosis","obsolete":false,"parents":["HP:0002921"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cerebrospinal fluid pleocytosis"},{"scope":"EXACT","text":"Increased leukocyte count in CSF"}]} +{"alt_ids":[],"definition":"A type of retinal detachment associated with a full-thickness defect in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium.","id":"HP:0012230","name":"Rhegmatogenous retinal detachment","obsolete":false,"parents":["HP:0000541"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007898"],"definition":"A type of retinal detachment such that fluid is present in the subretinal space and separate the neurosensory retina from the retinal pigment epithelium. It is not associated with a full-thickness break nor a tractional component. Due to breakdown of outer blood-retina barrier or increased exudation from abnormal vasculature or defective outflow.","id":"HP:0012231","name":"Serous retinal detachment","obsolete":false,"parents":["HP:0000541"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Exudative retinal detachment"},{"scope":"RELATED","text":"Exudative retinopathy"},{"scope":"EXACT","text":"Non-rhegmatogenous retinal detachment"}]} +{"alt_ids":[],"definition":"Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).","id":"HP:0012232","name":"Shortened QT interval","obsolete":false,"parents":["HP:0031547"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Blood clot formed within muscle tissue following leakage of blood into the tissue.","id":"HP:0012233","name":"Intramuscular hematoma","obsolete":false,"parents":["HP:0011805"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"IM hematoma"},{"scope":"EXACT","text":"Intramuscular haematoma"},{"scope":"RELATED","text":"Intramuscular hematomas"}]} +{"alt_ids":[],"definition":"Absence of detectable circulating granulocytes in the blood. Usually a value of less than 50 cells per microliter is considered to be an absence.","id":"HP:0012234","name":"Absence of circulating granulocytes","obsolete":false,"parents":["HP:0001913"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Agranulocytosis"}]} +{"alt_ids":[],"definition":"Absence of detectable circulating granulocytes in the blood caused by an exposure to a drug. Usually a value of less than 50 granulocytes per microliter is considered to be an absence.","id":"HP:0012235","name":"Drug-induced agranulocytosis","obsolete":false,"parents":["HP:0012234"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of chloride in the sweat.","id":"HP:0012236","name":"Elevated sweat chloride","obsolete":false,"parents":["HP:0040127"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated sweat Cl"},{"scope":"EXACT","text":"Elevated sweat Cl-"},{"scope":"EXACT","text":"Elevated sweat chloride"}]} +{"alt_ids":[],"definition":"An increased concentration of urocanic acid in the urine.","id":"HP:0012237","name":"Urocanic aciduria","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High urine urocanic acid levels"}]} +{"alt_ids":[],"definition":"Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.","id":"HP:0012238","name":"Increased circulating chylomicron concentration","obsolete":false,"parents":["HP:0010980","HP:0031887"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperchylomicronemia"},{"scope":"EXACT","text":"Increased chylomicrons"},{"scope":"EXACT","text":"Increased circulating chylomicron levels"}]} +{"alt_ids":[],"definition":"Absence of transferrin, a protein that transports iron, in the blood.","id":"HP:0012239","name":"Atransferrinemia","obsolete":false,"parents":["HP:0032385"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images.","id":"HP:0012240","name":"Increased intramyocellular lipid droplets","obsolete":false,"parents":["HP:0009058"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Increased muscle lipid droplets"}]} +{"alt_ids":[],"definition":"Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid.","id":"HP:0012241","name":"Levator palpebrae superioris atrophy","obsolete":false,"parents":["HP:3000072"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe.","id":"HP:0012242","name":"Superior rectus atrophy","obsolete":false,"parents":["HP:0008049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rectus superior atrophy"}]} +{"alt_ids":[],"definition":"A structural or developmental anomaly of any of the tissues involved in the genital system.","id":"HP:0012243","name":"Abnormal reproductive system morphology","obsolete":false,"parents":["HP:0000078"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal genital system morphology"}]} +{"alt_ids":[],"definition":"Anomaly of primary or secondary sexual development or characteristics.","id":"HP:0012244","name":"Abnormal sex determination","obsolete":false,"parents":["HP:0012243"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Development of the reproductive system is inconsistent with the chromosomal sex.","id":"HP:0012245","name":"Sex reversal","obsolete":false,"parents":["HP:0012244"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve).","id":"HP:0012246","name":"Oculomotor nerve palsy","obsolete":false,"parents":["HP:0000597","HP:0006824"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Oculomotor neuropathy"}]} +{"alt_ids":[],"definition":"Anosmia for one particular odor.","id":"HP:0012247","name":"Specific anosmia","obsolete":false,"parents":["HP:0000458"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).","id":"HP:0012248","name":"Prolonged PR interval","obsolete":false,"parents":["HP:0031593"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Electrocardiographic long PR interval"},{"scope":"EXACT","text":"Lengthened PR interval on EKG"}]} +{"alt_ids":[],"definition":"An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment.","id":"HP:0012249","name":"Abnormal ST segment","obsolete":false,"parents":["HP:0003115"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line.","id":"HP:0012250","name":"ST segment depression","obsolete":false,"parents":["HP:0012249"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line.","id":"HP:0012251","name":"ST segment elevation","obsolete":false,"parents":["HP:0012249"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the respiratory system.","id":"HP:0012252","name":"Abnormal respiratory system morphology","obsolete":false,"parents":["HP:0002086"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi.","id":"HP:0012253","name":"Abnormal respiratory epithelium morphology","obsolete":false,"parents":["HP:0012252"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones.","id":"HP:0012254","name":"Ewing sarcoma","obsolete":false,"parents":["HP:0100242"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ewing's sarcoma"}]} +{"alt_ids":[],"definition":"An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy.","id":"HP:0012255","name":"Dynein arm defect of respiratory motile cilia","obsolete":false,"parents":["HP:0005938"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.","id":"HP:0012256","name":"Absent outer dynein arms","obsolete":false,"parents":["HP:0200106"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.","id":"HP:0012257","name":"Absent inner dynein arms","obsolete":false,"parents":["HP:0200106"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms.","id":"HP:0012258","name":"Abnormal axonemal organization of respiratory motile cilia","obsolete":false,"parents":["HP:0005938"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal axonemal organisation of respiratory motile cilia"}]} +{"alt_ids":[],"definition":"Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.","id":"HP:0012259","name":"Absent inner and outer dynein arms","obsolete":false,"parents":["HP:0012256","HP:0012257"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.","id":"HP:0012260","name":"Abnormal central microtubular pair morphology of respiratory motile cilia","obsolete":false,"parents":["HP:0005938"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any functional anomaly of the respiratory motile cilia.","id":"HP:0012261","name":"Abnormal respiratory motile cilium physiology","obsolete":false,"parents":["HP:0002795"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions.","id":"HP:0012262","name":"Abnormal ciliary motility","obsolete":false,"parents":["HP:0012261"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0012263","name":"Immotile cilia","obsolete":false,"parents":["HP:0012262"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.","id":"HP:0012264","name":"Absent central microtubular pair morphology of respiratory motile cilia","obsolete":false,"parents":["HP:0005938"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. 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the amount of glycogen in muscle tissue.","id":"HP:0012269","name":"Abnormal muscle glycogen content","obsolete":false,"parents":["HP:0034370"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A decreased amount of glycogen in muscle tissue.","id":"HP:0012270","name":"Decreased muscle glycogen content","obsolete":false,"parents":["HP:0012269"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Intermittent episodes of increased resistance to the passage of air in the upper airway.","id":"HP:0012271","name":"Episodic upper airway obstruction","obsolete":false,"parents":["HP:0002781"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point.","id":"HP:0012272","name":"J wave","obsolete":false,"parents":["HP:0003115"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EKG J waves"},{"scope":"EXACT","text":"Osborne waves"}]} 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finger.","id":"HP:0012295","name":"Slender middle phalanx of finger","obsolete":false,"parents":["HP:0009833"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Slender middle bone of finger"}]} +{"alt_ids":[],"definition":"Reduced diameter of the distal phalanx of finger.","id":"HP:0012296","name":"Slender distal phalanx of finger","obsolete":false,"parents":["HP:0009832"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Slender outermost bone of finger"}]} +{"alt_ids":[],"definition":"Reduced diameter of the proximal phalanx of finger.","id":"HP:0012297","name":"Slender proximal phalanx of finger","obsolete":false,"parents":["HP:0009834"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Slender innermost bone of finger"}]} +{"alt_ids":[],"definition":"Increased length of the middle phalanx of finger.","id":"HP:0012298","name":"Long middle phalanx of finger","obsolete":false,"parents":["HP:0009833"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Long middle bone 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increased concentration of 2-hydroxyglutaric acid in the urine.","id":"HP:0012321","name":"D-2-hydroxyglutaric aciduria","obsolete":false,"parents":["HP:0032278"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation surrounding hair follicles.","id":"HP:0012322","name":"Perifolliculitis","obsolete":false,"parents":["HP:0011123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Perifollicular inflammation"}]} +{"alt_ids":[],"definition":"Myoclonus that occurs during the initial phases of sleep.","id":"HP:0012323","name":"Sleep myoclonus","obsolete":false,"parents":["HP:0001336"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow.","id":"HP:0012324","name":"Myeloid leukemia","obsolete":false,"parents":["HP:0001909"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Myeloid leukaemia"}]} +{"alt_ids":[],"definition":"A myelodysplastic/myeloproliferative 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(scleroderma).","id":"HP:0012344","name":"Morphea","obsolete":false,"parents":["HP:0001072"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule.","id":"HP:0012345","name":"Abnormal glycosylation","obsolete":false,"parents":["HP:0032245"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.","id":"HP:0012346","name":"Abnormal protein glycosylation","obsolete":false,"parents":["HP:0012345"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate 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+{"alt_ids":[],"definition":"Increased addition of sialic acids to N-linked glycans.","id":"HP:0012351","name":"Increased sialylation of N-linked protein glycosylation","obsolete":false,"parents":["HP:0012349"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the addition of fucose sugar units to N-linked glycans.","id":"HP:0012352","name":"Abnormal fucosylation of protein N-linked glycosylation","obsolete":false,"parents":["HP:0012347"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased addition of fucose sugar units to N-linked glycans.","id":"HP:0012353","name":"Decreased fucosylation of N-linked protein glycosylation","obsolete":false,"parents":["HP:0012352"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased addition of fucose sugar units to N-linked glycans.","id":"HP:0012354","name":"Increased fucosylation of N-linked protein glycosylation","obsolete":false,"parents":["HP:0012352"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the addition of mannose to N-linked glycans.","id":"HP:0012355","name":"Abnormal mannosylation of N-linked protein glycosylation","obsolete":false,"parents":["HP:0012347"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced addition of mannose to N-linked glycans.","id":"HP:0012356","name":"Decreased mannosylation of N-linked protein glycosylation","obsolete":false,"parents":["HP:0012355"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased addition of mannose to N-linked glycans.","id":"HP:0012357","name":"Increased mannosylation of N-linked protein glycosylation","obsolete":false,"parents":["HP:0012355"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue.","id":"HP:0012358","name":"Abnormal protein O-linked glycosylation","obsolete":false,"parents":["HP:0012346"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the addition of fucose sugar units to O-linked glycans.","id":"HP:0012359","name":"Abnormal fucosylation of O-linked protein glycosylation","obsolete":false,"parents":["HP:0012358"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction of the addition of fucose sugar units to O-linked glycans.","id":"HP:0012360","name":"Decreased fucosylation of O-linked protein glycosylation","obsolete":false,"parents":["HP:0012359"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased addition of fucose sugar units to O-linked glycans.","id":"HP:0012361","name":"Increased fucosylation of O-linked protein glycosylation","obsolete":false,"parents":["HP:0012359"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the addition of sialic acids to O-linked glycans.","id":"HP:0012362","name":"Abnormal sialylation of O-linked protein glycosylation","obsolete":false,"parents":["HP:0012358"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An reduced addition of sialic acids to O-linked glycans.","id":"HP:0012363","name":"Decreased sialylation of O-linked protein glycosylation","obsolete":false,"parents":["HP:0012362"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A decreased concentration of potassium(1+) in the urine.","id":"HP:0012364","name":"Decreased urinary potassium","obsolete":false,"parents":["HP:0012598"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased urinary K"},{"scope":"EXACT","text":"Hypokaliuria"},{"scope":"EXACT","text":"Hypokaluria"},{"scope":"EXACT","text":"Low urine potassium levels"}]} +{"alt_ids":[],"definition":"An abnormally decreased phosphate concentration in the urine.","id":"HP:0012365","name":"Hypophosphaturia","obsolete":false,"parents":["HP:0012599"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low urine phosphate levels"}]} +{"alt_ids":[],"definition":"Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama).","id":"HP:0012366","name":"Basilar invagination","obsolete":false,"parents":["HP:0000932"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An extra soft spot (fontanelle) on an infant's skull beyond the standard six normal fontanelles.","id":"HP:0012367","name":"Supernumerary fontanelle","obsolete":false,"parents":["HP:0011328"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extra fontanelle"}]} +{"alt_ids":[],"definition":"Absence of concavity or convexity of the face when viewed in profile.","id":"HP:0012368","name":"Flat face","obsolete":false,"parents":["HP:0001999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flat face"},{"scope":"EXACT","text":"Flat facial profile"},{"scope":"EXACT","text":"Flat facial shape"},{"scope":"EXACT","text":"Flat facies"}]} +{"alt_ids":[],"definition":null,"id":"HP:0012369","name":"obsolete Abnormal malar bone morphology","obsolete":true,"parents":[],"replaced_by":["HP:0010668"],"synonyms":[]} +{"alt_ids":[],"definition":"Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'.","id":"HP:0012370","name":"Prominence of the zygomatic bone","obsolete":false,"parents":["HP:0010668"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Cheekbone excess"},{"scope":"EXACT","text":"Cheekbone prominence"},{"scope":"NARROW","text":"Hyperplasia of cheekbone"},{"scope":"NARROW","text":"Hyperplasia of zygomatic bone"},{"scope":"EXACT","text":"Malar hypertrophy"},{"scope":"EXACT","text":"Prominence of cheekbone"},{"scope":"EXACT","text":"Pronounced cheekbone"},{"scope":"BROAD","text":"Zygomatic bone excess"},{"scope":"NARROW","text":"Zygomatic hypertrophy"}]} +{"alt_ids":["HP:0010279"],"definition":"Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face","id":"HP:0012371","name":"Hyperplasia of midface","obsolete":false,"parents":["HP:0000309"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Big midface"},{"scope":"RELATED","text":"Hypertrophy of midface"},{"scope":"BROAD","text":"Large midface"},{"scope":"EXACT","text":"Midface hyperplasia"},{"scope":"EXACT","text":"Midfacial excess"},{"scope":"EXACT","text":"Midfacial prominence"},{"scope":"RELATED","text":"Overgrowth of the midface"}]} +{"alt_ids":["HP:0000489","HP:0012374"],"definition":"A structural anomaly of the globe of the eye, or bulbus oculi.","id":"HP:0012372","name":"Abnormal eye morphology","obsolete":false,"parents":["HP:0000478"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal eye structure"},{"scope":"EXACT","text":"Abnormality of the globe"},{"scope":"EXACT","text":"Abnormally shaped eye"}]} +{"alt_ids":[],"definition":"A functional anomaly of the eye.","id":"HP:0012373","name":"Abnormal eye physiology","obsolete":false,"parents":["HP:0000478"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal eye physiology"},{"scope":"BROAD","text":"Abnormal vision physiology"}]} +{"alt_ids":[],"definition":null,"id":"HP:0012374","name":"obsolete Abnormal globe morphology","obsolete":true,"parents":[],"replaced_by":["HP:0012372"],"synonyms":[]} +{"alt_ids":[],"definition":"Edema (swelling) of the bulbar conjunctiva.","id":"HP:0012375","name":"Chemosis","obsolete":false,"parents":["HP:0000502"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal smallness of the lens.","id":"HP:0012376","name":"Microphakia","obsolete":false,"parents":["HP:0008063"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small lens"}]} +{"alt_ids":[],"definition":"Partial or complete loss of vision in one half of the visual field of one or both eyes.","id":"HP:0012377","name":"Hemianopia","obsolete":false,"parents":["HP:0001123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hemianopsia"}]} +{"alt_ids":[],"definition":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","id":"HP:0012378","name":"Fatigue","obsolete":false,"parents":["HP:0025142"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fatigue"},{"scope":"EXACT","text":"Tired"},{"scope":"EXACT","text":"Tiredness"}]} +{"alt_ids":[],"definition":"Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.","id":"HP:0012379","name":"Abnormal circulating enzyme concentration or activity","obsolete":false,"parents":["HP:0034684"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced carnitine O-palmitoyltransferase (CPT II; EC 2.3.1.21) activity or level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine. (CPT II activity can be measured in tissues including fibroblasts, lymphoblasts, and skeletal muscle.","id":"HP:0012380","name":"Reduced tissue carnitine O-palmitoyltransferase 2 activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age).","id":"HP:0012381","name":"Delayed self-feeding during toddler years","obsolete":false,"parents":["HP:0011968"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right.","id":"HP:0012382","name":"Left-to-right shunt","obsolete":false,"parents":["HP:0001693"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa.","id":"HP:0012383","name":"Bidirectional shunt","obsolete":false,"parents":["HP:0001693"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the nasal mucosa with nasal congestion.","id":"HP:0012384","name":"Rhinitis","obsolete":false,"parents":["HP:0000366"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nasal inflammation"}]} +{"alt_ids":[],"definition":"The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.","id":"HP:0012385","name":"Camptodactyly","obsolete":false,"parents":["HP:0030044"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Permanent flexion of the finger or toe"}]} +{"alt_ids":[],"definition":"Aplasia of the hallux, that is, a development defect such that the big toe does not develop.","id":"HP:0012386","name":"Absent hallux","obsolete":false,"parents":["HP:0008362"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent big toe"},{"scope":"EXACT","text":"Agenesis of the halluces"},{"scope":"EXACT","text":"Aplasia of the hallux"},{"scope":"EXACT","text":"Missing big toe"}]} +{"alt_ids":[],"definition":"Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi.","id":"HP:0012387","name":"Bronchitis","obsolete":false,"parents":["HP:5210123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness.","id":"HP:0012388","name":"Acute bronchitis","obsolete":false,"parents":["HP:0012387"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Muscular hypotonia of one or more limbs.","id":"HP:0012389","name":"Appendicular hypotonia","obsolete":false,"parents":["HP:0001252"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus.","id":"HP:0012390","name":"Anal fissure","obsolete":false,"parents":["HP:0034915"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Anal erosion"}]} +{"alt_ids":[],"definition":"Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.","id":"HP:0012391","name":"Hyporeflexia of upper limbs","obsolete":false,"parents":["HP:0001265","HP:0002817"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced intensity of muscle tendon reflexes in jaw.","id":"HP:0012392","name":"Jaw hyporeflexia","obsolete":false,"parents":["HP:0001265","HP:0045037"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mandibular hyporeflexia"}]} +{"alt_ids":[],"definition":"An allergy is an immune response or reaction to substances that are usually not harmful.","id":"HP:0012393","name":"Allergy","obsolete":false,"parents":["HP:0100326"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Allergy"}]} +{"alt_ids":[],"definition":"Allergy to iodine contrast media used in radiological studies.","id":"HP:0012394","name":"Iodine contrast allergy","obsolete":false,"parents":["HP:0012393"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction.","id":"HP:0012395","name":"Seasonal allergy","obsolete":false,"parents":["HP:0012393"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Seasonal allergy"}]} +{"alt_ids":[],"definition":"A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction.","id":"HP:0012396","name":"Biliary dyskinesia","obsolete":false,"parents":["HP:0012439"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of atheromas or atherosclerotic plaques in the aorta.","id":"HP:0012397","name":"Aortic atherosclerotic lesion","obsolete":false,"parents":["HP:0001679","HP:0002621"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Aortic atherosclerosis"},{"scope":"EXACT","text":"Atherosclerosis of the aorta"},{"scope":"EXACT","text":"Atherosclerotic changes of aorta"},{"scope":"BROAD","text":"Plaque build-up in aorta artery"}]} +{"alt_ids":[],"definition":"An abnormal accumulation of interstitial fluid in the soft tissues of the limbs.","id":"HP:0012398","name":"Peripheral edema","obsolete":false,"parents":["HP:0000969"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Peripheral oedema"}]} +{"alt_ids":[],"definition":"A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips.","id":"HP:0012399","name":"Pressure ulcer","obsolete":false,"parents":["HP:0200042"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bedsore"},{"scope":"EXACT","text":"Decubitus Ulcer"},{"scope":"EXACT","text":"Pressure Sore"},{"scope":"EXACT","text":"Pressure ulcer"}]} +{"alt_ids":[],"definition":"An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate.","id":"HP:0012400","name":"Abnormal circulating aldolase concentration","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal aldolase level"}]} +{"alt_ids":[],"definition":"A deviation from normal of the concentration of 2-oxoglutaric acid in the urine.","id":"HP:0012401","name":"Abnormal urine alpha-ketoglutarate concentration","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal urinary 2-oxoglutarate level"},{"scope":"EXACT","text":"Abnormality of urine alpha ketoglutarate concentration"}]} +{"alt_ids":[],"definition":"A greater than normal concentration of 2-oxoglutaric acid in the urine.","id":"HP:0012402","name":"Increased urine alpha-ketoglutarate concentration","obsolete":false,"parents":["HP:0012401"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urinary 2-oxoglutarate"},{"scope":"EXACT","text":"Increased urine alpha-ketoglutarate concentration"}]} +{"alt_ids":[],"definition":"A lower than normal concentration of 2-oxoglutaric acid in the urine.","id":"HP:0012403","name":"Decreased urine alpha-ketoglutarate concentration","obsolete":false,"parents":["HP:0012401"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased urinary 2-oxoglutarate"}]} +{"alt_ids":[],"definition":"A deviation from normal of the concentration of citrate(3-) in the urine.","id":"HP:0012404","name":"Abnormal urine citrate concentration","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal urine citrate concentration"},{"scope":"EXACT","text":"Abnormal urine citric acid concentration"}]} +{"alt_ids":[],"definition":"A lower than normal concentration of citrate(3-) in the urine.","id":"HP:0012405","name":"Hypocitraturia","obsolete":false,"parents":["HP:0012404"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased urine citrate concentration"}]} +{"alt_ids":[],"definition":"A greater than normal concentration of citrate(3-) in the urine.","id":"HP:0012406","name":"Hypercitraturia","obsolete":false,"parents":["HP:0012404"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased urine citrate concentration"}]} +{"alt_ids":[],"definition":"A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use.","id":"HP:0012407","name":"Scissor gait","obsolete":false,"parents":["HP:0031958"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Scissor gait"},{"scope":"EXACT","text":"Scissor walk"},{"scope":"EXACT","text":"Scissoring gait"},{"scope":"EXACT","text":"Scissoring of the lower extremities"},{"scope":"EXACT","text":"Scissoring of the lower limbs"},{"scope":"EXACT","text":"Scissors gait"}]} +{"alt_ids":[],"definition":"The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney).","id":"HP:0012408","name":"Medullary nephrocalcinosis","obsolete":false,"parents":["HP:0000121"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla).","id":"HP:0012409","name":"Cortical nephrocalcinosis","obsolete":false,"parents":["HP:0000121"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction.","id":"HP:0012410","name":"Pure red cell aplasia","obsolete":false,"parents":["HP:0012131"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Red cell aplasia"}]} +{"alt_ids":[],"definition":"The onset of growth of pubic hair at an earlier age than normal.","id":"HP:0012411","name":"Premature pubarche","obsolete":false,"parents":["HP:0000826"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Premature pubic hair growth"}]} +{"alt_ids":[],"definition":"Onset of adrenarche at an earlier age than usual.","id":"HP:0012412","name":"Premature adrenarche","obsolete":false,"parents":["HP:0100000"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a V-shaped indentation (notch) in the primary central incisor.","id":"HP:0012413","name":"Notched primary central incisor","obsolete":false,"parents":["HP:0011063"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Notched front baby tooth"},{"scope":"EXACT","text":"Notched front deciduous tooth"},{"scope":"EXACT","text":"Notched front primary tooth"},{"scope":"EXACT","text":"Syphilitic primary incisor"}]} +{"alt_ids":[],"definition":"Wasting or decrease in size of all or part of the duodenum.","id":"HP:0012414","name":"Duodenal atrophy","obsolete":false,"parents":["HP:0002246"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood.","id":"HP:0012415","name":"Abnormal blood gas level","obsolete":false,"parents":["HP:0002795"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal blood gas level"}]} +{"alt_ids":[],"definition":"Abnormally elevated blood carbon dioxide (CO2) level.","id":"HP:0012416","name":"Hypercapnia","obsolete":false,"parents":["HP:0500164"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High blood carbon dioxide level"},{"scope":"EXACT","text":"Hypercarbia"}]} +{"alt_ids":[],"definition":"Abnormally reduced blood carbon dioxide (CO2) level.","id":"HP:0012417","name":"Hypocapnia","obsolete":false,"parents":["HP:0500164"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypocarbia"},{"scope":"EXACT","text":"Reduced carbon dioxide in the blood"}]} +{"alt_ids":[],"definition":"An abnormally low level of blood oxygen.","id":"HP:0012418","name":"Hypoxemia","obsolete":false,"parents":["HP:0500165"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Hypoxia"},{"scope":"EXACT","text":"Low blood oxygen level"}]} +{"alt_ids":[],"definition":"An abnormally high level of blood oxygen.","id":"HP:0012419","name":"Hyperoxemia","obsolete":false,"parents":["HP:0500165"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Amniotic fluid containing the earliest stools of a mammalian infant.","id":"HP:0012420","name":"Meconium stained amniotic fluid","obsolete":false,"parents":["HP:0001560"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Meconium staining of amniotic fluid"},{"scope":"EXACT","text":"Meconium-stained amniotic fluid"}]} +{"alt_ids":[],"definition":"Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis.","id":"HP:0012421","name":"Congenital absence of foreskin","obsolete":false,"parents":["HP:0100587"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent foreskin"},{"scope":"EXACT","text":"Aposthia"}]} +{"alt_ids":[],"definition":"Overgrowth of the choroid plexus.","id":"HP:0012422","name":"Villous hypertrophy of choroid plexus","obsolete":false,"parents":["HP:0007376"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Choroid plexus hypertrophy"},{"scope":"RELATED","text":"Diffuse villous hypertrophy of choroid plexus"}]} +{"alt_ids":[],"definition":"The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days.","id":"HP:0012423","name":"Colonic inertia","obsolete":false,"parents":["HP:0012700"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An inflammation of the choroid and retina.","id":"HP:0012424","name":"Chorioretinitis","obsolete":false,"parents":["HP:0000532"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An ulcer of the colon due to pressure and irritation from retained fecal masses.","id":"HP:0012425","name":"Stercoral ulcer","obsolete":false,"parents":["HP:0002250","HP:0034274"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Colon ulcer"},{"scope":"RELATED","text":"Recto-sigmoid colon stercoral ulcer"}]} +{"alt_ids":[],"definition":"Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.","id":"HP:0012426","name":"Optic disc drusen","obsolete":false,"parents":["HP:0011510","HP:0012795"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Optic nerve head drusen"}]} +{"alt_ids":["HP:0031068"],"definition":"An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward.","id":"HP:0012427","name":"Increased femoral anteversion","obsolete":false,"parents":["HP:0031069"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excessive femoral anteversion"},{"scope":"EXACT","text":"Increased femoral neck anteversion"},{"scope":"EXACT","text":"Internally rotated hips"}]} +{"alt_ids":[],"definition":"Protruding heel bone, or calcaneus.","id":"HP:0012428","name":"Prominent calcaneus","obsolete":false,"parents":["HP:0008364"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prominent heel bone"}]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the cerebral white matter.","id":"HP:0012429","name":"Aplasia/Hypoplasia of the cerebral white matter","obsolete":false,"parents":["HP:0002500"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small cerebral white matter"},{"scope":"EXACT","text":"Absent/underdeveloped cerebral white matter"}]} +{"alt_ids":[],"definition":"Underdevelopment of the cerebral white matter.","id":"HP:0012430","name":"Cerebral white matter hypoplasia","obsolete":false,"parents":["HP:0012429"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Paucity of cerebral white matter"}]} +{"alt_ids":[],"definition":"Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation.","id":"HP:0012431","name":"Episodic fatigue","obsolete":false,"parents":["HP:0012378"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.","id":"HP:0012432","name":"Chronic fatigue","obsolete":false,"parents":["HP:0012378"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic extreme exhaustion"},{"scope":"EXACT","text":"Chronic fatigue"}]} +{"alt_ids":[],"definition":"An abnormality of actions or reactions of a person exhibited during social interactions with other individuals.","id":"HP:0012433","name":"Abnormal social behavior","obsolete":false,"parents":["HP:0000708"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal social behavior"},{"scope":"EXACT","text":"Abnormal social interactions"}]} +{"alt_ids":[],"definition":"A failure to meet one or more age-related milestones of social behavior.","id":"HP:0012434","name":"Delayed early-childhood social milestone development","obsolete":false,"parents":["HP:0012758","HP:0025732"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delayed milestone development"},{"scope":"EXACT","text":"Delayed social development"}]} +{"alt_ids":[],"definition":"Reduction in length of the ventral (lower) skin of prepuce of penis.","id":"HP:0012435","name":"Ventral shortening of foreskin","obsolete":false,"parents":["HP:0100587"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries.","id":"HP:0012436","name":"Nonocclusive coronary artery atherosclerosis","obsolete":false,"parents":["HP:0001677"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Non-occlusive coronary artery disease"},{"scope":"RELATED","text":"Non-occlusive coronary artery stenosis"},{"scope":"RELATED","text":"Nonocclusive coronary artery disease"},{"scope":"RELATED","text":"Nonocclusive coronary artery stenosis"}]} +{"alt_ids":[],"definition":"A structural anomaly of the gallbladder.","id":"HP:0012437","name":"Abnormal gallbladder morphology","obsolete":false,"parents":["HP:0005264"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal gallbladder structure"},{"scope":"EXACT","text":"Abnormal shape of gallbladder"}]} +{"alt_ids":[],"definition":"A functional anomaly of the gallbladder.","id":"HP:0012438","name":"Abnormal gallbladder physiology","obsolete":false,"parents":["HP:0005264"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional abnormality of the biliary tree.","id":"HP:0012439","name":"Abnormal biliary tract physiology","obsolete":false,"parents":["HP:0001080"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural abnormality of the biliary tree.","id":"HP:0012440","name":"Abnormal biliary tract morphology","obsolete":false,"parents":["HP:0001080"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anomaly of the biliary tract"}]} +{"alt_ids":[],"definition":"Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum.","id":"HP:0012441","name":"Sphincter of Oddi dyskinesia","obsolete":false,"parents":["HP:0012396"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Sphincter of Oddi dysfunction"}]} +{"alt_ids":[],"definition":"Reduced motility of the gallbladder with reduced emptying fraction.","id":"HP:0012442","name":"Gallbladder dyskinesia","obsolete":false,"parents":["HP:0012396"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.","id":"HP:0012443","name":"Abnormal brain morphology","obsolete":false,"parents":["HP:0002011"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of brain"},{"scope":"EXACT","text":"Abnormality of brain morphology"},{"scope":"EXACT","text":"Abnormality of the brain"}]} +{"alt_ids":[],"definition":"Partial or complete wasting (loss) of brain tissue that was once present.","id":"HP:0012444","name":"Brain atrophy","obsolete":false,"parents":["HP:0007367","HP:0012443"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brain degeneration"},{"scope":"EXACT","text":"Brain wasting"}]} +{"alt_ids":["HP:0012336"],"definition":"A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite.","id":"HP:0012446","name":"Decreased CSF 5-methyltetrahydrofolate concentration","obsolete":false,"parents":["HP:0020351"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Cerebral folate deficiency"},{"scope":"EXACT","text":"Low CSF 5-methyltetrahydrofolate"},{"scope":"EXACT","text":"Reduced CSF 5-methyltetrahydrofolate concentration"}]} +{"alt_ids":[],"definition":"Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.","id":"HP:0012447","name":"Abnormal myelination","obsolete":false,"parents":["HP:0012639"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Delayed myelination.","id":"HP:0012448","name":"Delayed myelination","obsolete":false,"parents":["HP:0012447"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the synovial membrane of the sacroiliac joint.","id":"HP:0012449","name":"Sacroiliac joint synovitis","obsolete":false,"parents":["HP:0100781"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.","id":"HP:0012450","name":"Chronic constipation","obsolete":false,"parents":["HP:0002019"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic constipation"},{"scope":"EXACT","text":"Infrequent bowel movements"}]} +{"alt_ids":[],"definition":"Constipation of sudden onset and lasting for less than three months.","id":"HP:0012451","name":"Acute constipation","obsolete":false,"parents":["HP:0002019"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An irresistible urge to move the legs, usually accompanied by unpleasant sensations deep within the limbs. Symptoms typically begin or worsen during periods of rest or inactivity, are most pronounced in the evening or at night, and are temporarily relieved by movement such as walking or stretching. The disturbance often interferes with the initiation or maintenance of sleep.","id":"HP:0012452","name":"Restless legs","obsolete":false,"parents":["HP:0031943","HP:5200300"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Ekbom syndrome"},{"scope":"EXACT","text":"Restless legs syndrome"},{"scope":"EXACT","text":"Tachyathetosis"},{"scope":"RELATED","text":"Willis-Ekbom disease"},{"scope":"RELATED","text":"Wittmaack-Ekbom syndrome"}]} +{"alt_ids":[],"definition":"A chronic loss of wrist joint motion on the right and left sides.","id":"HP:0012453","name":"Bilateral wrist flexion contracture","obsolete":false,"parents":["HP:0001239"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Bilateral wrist contracture"}]} +{"alt_ids":[],"definition":"A chronic loss of wrist joint motion on one side only.","id":"HP:0012454","name":"Unilateral wrist flexion contracture","obsolete":false,"parents":["HP:0001239"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Unilateral wrist contracture"}]} +{"alt_ids":[],"definition":null,"id":"HP:0012455","name":"obsolete Large artery calcification","obsolete":true,"parents":[],"replaced_by":["HP:0003207"],"synonyms":[]} +{"alt_ids":[],"definition":"Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries.","id":"HP:0012456","name":"Medial arterial calcification","obsolete":false,"parents":["HP:0003207"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries.","id":"HP:0012457","name":"Medial calcification of medium-sized arteries","obsolete":false,"parents":["HP:0012456"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries.","id":"HP:0012458","name":"Medial calcification of small arteries","obsolete":false,"parents":["HP:0012456"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A headache disorder that occurs exclusively at night, waking the affected individual from sleep.","id":"HP:0012459","name":"Hypnic headache","obsolete":false,"parents":["HP:0002315"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Alarm clock headache"}]} +{"alt_ids":[],"definition":"A structural anomaly of the inferior portion of the vermis of cerebellum.","id":"HP:0012460","name":"Dysmorphic inferior cerebellar vermis","obsolete":false,"parents":["HP:0002334"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of bacteria in the urine.","id":"HP:0012461","name":"Bacteriuria","obsolete":false,"parents":["HP:0003110"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bacteria in urine"},{"scope":"EXACT","text":"High urine bacteria"}]} +{"alt_ids":[],"definition":"Involuntary and irregular twitches of the chin.","id":"HP:0012462","name":"Chin myoclonus","obsolete":false,"parents":["HP:0001336"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Chin spasms"},{"scope":"EXACT","text":"Geniospasm"}]} +{"alt_ids":[],"definition":"An above normal level of saturation of serum transferrin with iron.","id":"HP:0012463","name":"Elevated transferrin saturation","obsolete":false,"parents":["HP:0040135"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A below normal level of saturation of serum transferrin with iron.","id":"HP:0012464","name":"Decreased transferrin saturation","obsolete":false,"parents":["HP:0040135"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased level of iron in liver tissues.","id":"HP:0012465","name":"Elevated hepatic iron concentration","obsolete":false,"parents":["HP:0040134"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased iron concentration in liver"},{"scope":"EXACT","text":"Increased liver iron level"}]} +{"alt_ids":[],"definition":"Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L).","id":"HP:0012466","name":"Chronic respiratory acidosis","obsolete":false,"parents":["HP:0005972","HP:0012468"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35).","id":"HP:0012467","name":"Acute respiratory acidosis","obsolete":false,"parents":["HP:0005972"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Longstanding abnormal acid accumulation or depletion of base.","id":"HP:0012468","name":"Chronic acidosis","obsolete":false,"parents":["HP:0001941"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Infantile spasms represent a subset of \"epileptic spasms\". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).","id":"HP:0012469","name":"Infantile spasms","obsolete":false,"parents":["HP:0011097"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid.","id":"HP:0012470","name":"Setting-sun eye phenomenon","obsolete":false,"parents":["HP:0000597"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Eyes fixed downward"},{"scope":"EXACT","text":"Setting-sun eye phenomenon"},{"scope":"EXACT","text":"Sun setting eyes"},{"scope":"EXACT","text":"Sunsetting eye"}]} +{"alt_ids":[],"definition":"Increased width of the skin of vermilion border region of upper lip.","id":"HP:0012471","name":"Thick vermilion border","obsolete":false,"parents":["HP:0000159"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Full lips"},{"scope":"EXACT","text":"Increased volume of lip"},{"scope":"EXACT","text":"Increased volume of lip vermillion"},{"scope":"EXACT","text":"Plump lips"},{"scope":"EXACT","text":"Prominent lips"},{"scope":"EXACT","text":"Thick lips"}]} +{"alt_ids":[],"definition":"A turning outward of the lip or lips, that is, eversion of the lips.","id":"HP:0012472","name":"Eclabion","obsolete":false,"parents":["HP:0000159"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eclabium"},{"scope":"EXACT","text":"Everted lips"},{"scope":"EXACT","text":"Outward turned lips"}]} +{"alt_ids":[],"definition":"Wasting of the tongue.","id":"HP:0012473","name":"Tongue atrophy","obsolete":false,"parents":["HP:0030809"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atrophy of the tongue"},{"scope":"EXACT","text":"Lingual atrophy"},{"scope":"EXACT","text":"Lingual wasting"},{"scope":"EXACT","text":"Wasting of the tongue"}]} +{"alt_ids":[],"definition":"Complete obstruction of a carotid artery.","id":"HP:0012474","name":"Carotid artery occlusion","obsolete":false,"parents":["HP:0005344"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Obstructed carotid artery"}]} +{"alt_ids":[],"definition":"Reduced ability of the immune system to produce targeted, protective antibodies (immunoglobulins) against specific pathogens or vaccines in the setting of normal or near-normal serum levels of total IgG, IgA, and IgM and normal absolute counts of B cells and T cells.","id":"HP:0012475","name":"Impaired specific antibody response","obsolete":false,"parents":["HP:0005368","HP:0031404"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal specific antibody response"},{"scope":"EXACT","text":"Decreased circulating level of specific antibodies"},{"scope":"EXACT","text":"Decreased specific antibody in blood"},{"scope":"EXACT","text":"Specific antibody deficiency"}]} +{"alt_ids":[],"definition":"The concentration in the blood circulation of specific immunoglobulins directed against pneumococci is below the lower limit of normal.","id":"HP:0012476","name":"Decreased circulating specific pneumococcal antibody concentration","obsolete":false,"parents":["HP:0002848"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased specific pneumococcal antibody level"},{"scope":"EXACT","text":"Low pneumococcal antibody titer"},{"scope":"EXACT","text":"Specific pneumococcal antibody deficiency"}]} +{"alt_ids":[],"definition":"A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability.","id":"HP:0012477","name":"Vocal tremor","obsolete":false,"parents":["HP:0002345"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Shakey voice"},{"scope":"EXACT","text":"Vocal tremor"}]} +{"alt_ids":["HP:0040263"],"definition":"Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening.","id":"HP:0012478","name":"Temporomandibular joint ankylosis","obsolete":false,"parents":["HP:0010754"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Adhesion of the temporomandibular joint"},{"scope":"EXACT","text":"Ankylosis of temporomandibular joint"},{"scope":"EXACT","text":"Freezing of jaw joint"},{"scope":"EXACT","text":"Freezing of the temporomandibular joint"},{"scope":"EXACT","text":"Jaw ankylosis"},{"scope":"EXACT","text":"Rigidity of the temporomandibular joint"},{"scope":"EXACT","text":"Temporomandibular joint fusion"}]} +{"alt_ids":[],"definition":"Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound.","id":"HP:0012479","name":"Temporomandibular joint crepitus","obsolete":false,"parents":["HP:0010754"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Jaw joint clicking sound"},{"scope":"EXACT","text":"Jaw joint crepitus"},{"scope":"NARROW","text":"Jaw joint grating sound"},{"scope":"BROAD","text":"Jaw joint noise"},{"scope":"NARROW","text":"Jaw joint popping sound"},{"scope":"BROAD","text":"Jaw joint sounds"},{"scope":"NARROW","text":"Temporomandibular joint clicking sound"},{"scope":"NARROW","text":"Temporomandibular joint grating sound"},{"scope":"BROAD","text":"Temporomandibular joint noise"},{"scope":"NARROW","text":"Temporomandibular joint popping sound"},{"scope":"BROAD","text":"Temporomandibular joint sounds"}]} +{"alt_ids":[],"definition":"An anomaly of cerebral veins.","id":"HP:0012480","name":"Abnormal cerebral vein morphology","obsolete":false,"parents":["HP:0100659"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of cerebral veins"}]} +{"alt_ids":[],"definition":"A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system.","id":"HP:0012481","name":"Cerebral venous angioma","obsolete":false,"parents":["HP:0012480"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Developmental Venous Anomaly"}]} +{"alt_ids":[],"definition":"A venous angioma of the frontal lobe of the brain.","id":"HP:0012482","name":"Frontal venous angioma","obsolete":false,"parents":["HP:0012481"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury.","id":"HP:0012483","name":"Abnormal alpha granules","obsolete":false,"parents":["HP:0011883"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin.","id":"HP:0012484","name":"Abnormal dense granules","obsolete":false,"parents":["HP:0011883"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction.","id":"HP:0012485","name":"Abnormal surface-connected open canalicular system","obsolete":false,"parents":["HP:0011875"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the spinal cord.","id":"HP:0012486","name":"Myelitis","obsolete":false,"parents":["HP:0002143","HP:0033429"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inflammation of spinal cord"}]} +{"alt_ids":[],"definition":"An arachnoid cyst located at the margin of the cerebellum and pons.","id":"HP:0012487","name":"Cerebellopontine angle arachnoid cyst","obsolete":false,"parents":["HP:0007291","HP:0100702"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An arachnoid cyst located within the ventricular system.","id":"HP:0012488","name":"Intraventricular arachnoid cyst","obsolete":false,"parents":["HP:0010576","HP:0100702"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards.","id":"HP:0012489","name":"Suprasellar arachnoid cyst","obsolete":false,"parents":["HP:0010576","HP:0100702"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of subcutaneous adipose tissue.","id":"HP:0012490","name":"Panniculitis","obsolete":false,"parents":["HP:0009124","HP:0012649"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inflammation of adipose tissue"},{"scope":"EXACT","text":"Inflammation of fat tissue"}]} +{"alt_ids":[],"definition":"An anomaly of the intracellular membrane complexes known as the dense tubular system.","id":"HP:0012491","name":"Abnormal dense tubular system","obsolete":false,"parents":["HP:0011875"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Narrowing or constriction of the inner surface (lumen) of a cerebral artery.","id":"HP:0012492","name":"Cerebral artery stenosis","obsolete":false,"parents":["HP:0009145"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrowing of a cerebral artery"}]} +{"alt_ids":[],"definition":"Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery.","id":"HP:0012493","name":"Middle cerebral artery stenosis","obsolete":false,"parents":["HP:0012492"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery.","id":"HP:0012494","name":"Anterior cerebral artery stenosis","obsolete":false,"parents":["HP:0012492"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery.","id":"HP:0012495","name":"Posterior cerebral artery stenosis","obsolete":false,"parents":["HP:0012492"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A decrease in the maximum amount of negative pressure a person can generate during an inhalation.","id":"HP:0012496","name":"Reduced maximal inspiratory pressure","obsolete":false,"parents":["HP:0004347"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration.","id":"HP:0012497","name":"Reduced maximal expiratory pressure","obsolete":false,"parents":["HP:0004347"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times.","id":"HP:0012498","name":"Nuchal cord","obsolete":false,"parents":["HP:0001787"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.","id":"HP:0012499","name":"Descending aortic dissection","obsolete":false,"parents":["HP:0002647"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Type B aortic dissection"}]} +{"alt_ids":[],"definition":"A wartlike (with multiple small elevated projections) papule.","id":"HP:0012500","name":"Verrucous papule","obsolete":false,"parents":["HP:0200034"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Papillomatous papule"}]} +{"alt_ids":[],"definition":"An anomaly of the white matter of brainstem.","id":"HP:0012501","name":"Abnormal brainstem white matter morphology","obsolete":false,"parents":["HP:0002363"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the brainstem white matter"}]} +{"alt_ids":[],"definition":"An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus.","id":"HP:0012502","name":"Abnormality of the internal capsule","obsolete":false,"parents":["HP:0002500"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the pituitary gland.","id":"HP:0012503","name":"Abnormal pituitary gland morphology","obsolete":false,"parents":["HP:0000864","HP:0012443"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the pituitary gland"},{"scope":"EXACT","text":"disorder of pituitary gland"}]} +{"alt_ids":[],"definition":"A deviation from the normal size of the pituitary gland.","id":"HP:0012504","name":"Abnormal size of pituitary gland","obsolete":false,"parents":["HP:0012503"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased size of the pituitary gland.","id":"HP:0012505","name":"Enlarged pituitary gland","obsolete":false,"parents":["HP:0012504"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally decreased size of the pituitary gland.","id":"HP:0012506","name":"Small pituitary gland","obsolete":false,"parents":["HP:0012504"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid.","id":"HP:0012507","name":"Weakness of orbicularis oculi muscle","obsolete":false,"parents":["HP:0001324","HP:0030319"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Weakness of orbicularis oculi muscles"}]} +{"alt_ids":[],"definition":"A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank.","id":"HP:0012508","name":"Metamorphopsia","obsolete":false,"parents":["HP:0000504"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0012509","name":"obsolete Reduced thyroxin-binding globulin","obsolete":true,"parents":[],"replaced_by":["HP:0034591"],"synonyms":[]} +{"alt_ids":[],"definition":"An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space.","id":"HP:0012510","name":"Extra-axial cerebrospinal fluid accumulation","obsolete":false,"parents":["HP:0002921"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extra-axial CSF accumulation"}]} +{"alt_ids":[],"definition":"A pale yellow discoloration of the temporal (lateral) portion of the optic disc.","id":"HP:0012511","name":"Temporal optic disc pallor","obsolete":false,"parents":["HP:0000543"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A pale yellow discoloration of the entire optic disc.","id":"HP:0012512","name":"Diffuse optic disc pallor","obsolete":false,"parents":["HP:0000543"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm.","id":"HP:0012513","name":"Upper limb pain","obsolete":false,"parents":["HP:0009763"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Upper limb pain"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg.","id":"HP:0012514","name":"Lower limb pain","obsolete":false,"parents":["HP:0009763"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Leg pain"},{"scope":"EXACT","text":"Lower limb pain"}]} +{"alt_ids":[],"definition":"Reduced ability to flex the femur, that is, to pull the knee upward.","id":"HP:0012515","name":"Hip flexor weakness","obsolete":false,"parents":["HP:0003749"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries.","id":"HP:0012516","name":"Tetralogy of Fallot with pulmonary atresia","obsolete":false,"parents":["HP:0001636"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity or concentration of catalase in the blood circulation below the lower limit of normal.","id":"HP:0012517","name":"Reduced circulating catalase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced catalase level"}]} +{"alt_ids":[],"definition":"An anomaly of the circle of Willis, also known as the cerebral arterial circle.","id":"HP:0012518","name":"Abnormal circle of Willis morphology","obsolete":false,"parents":["HP:0009145"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the cerebral arterial circle"}]} +{"alt_ids":[],"definition":"A developmental anomnaly characterized by underdevelopment of the posterior communicating artery.","id":"HP:0012519","name":"Hypoplastic posterior communicating artery","obsolete":false,"parents":["HP:0031772"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Hypoplastic posterior communicating arteries"}]} +{"alt_ids":[],"definition":"Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery.","id":"HP:0012520","name":"Dilation of Virchow-Robin spaces","obsolete":false,"parents":["HP:0100659"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dilated Virchow-Robin spaces"},{"scope":"RELATED","text":"Dilated cerebral perivascular spaces"},{"scope":"EXACT","text":"Perivascular spaces"}]} +{"alt_ids":[],"definition":"Congenital absence of the optic nerve.","id":"HP:0012521","name":"Optic nerve aplasia","obsolete":false,"parents":["HP:0008058"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent optic nerve"},{"scope":"EXACT","text":"Aplastic optic nerve"}]} +{"alt_ids":[],"definition":"A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released.","id":"HP:0012522","name":"Spider hemangioma","obsolete":false,"parents":["HP:0100585"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing).","id":"HP:0012523","name":"Oral aversion","obsolete":false,"parents":["HP:0100738"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal discoid platelet shape.","id":"HP:0012524","name":"Abnormal platelet shape","obsolete":false,"parents":["HP:0011875"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomalous location and arrangement of platelet alpha granules.","id":"HP:0012525","name":"Abnormal alpha granule distribution","obsolete":false,"parents":["HP:0012483"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A lack of platelet alpha granules. This typically results in the gray appearance of platelets in giemsa stained blood smears.","id":"HP:0012526","name":"Absence of alpha granules","obsolete":false,"parents":["HP:0012528"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gray platelets"},{"scope":"EXACT","text":"Grey platelets"}]} +{"alt_ids":[],"definition":"A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor.","id":"HP:0012527","name":"Abnormal alpha granule content","obsolete":false,"parents":["HP:0012483"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal count of alpha granules per thrombocyte.","id":"HP:0012528","name":"Abnormal number of alpha granules","obsolete":false,"parents":["HP:0012483"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated.","id":"HP:0012529","name":"Abnormal dense granule content","obsolete":false,"parents":["HP:0012484"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal count of dense granules per thrombocyte.","id":"HP:0012530","name":"Abnormal number of dense granules","obsolete":false,"parents":["HP:0012484"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","id":"HP:0012531","name":"Pain","obsolete":false,"parents":["HP:0025142"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pain"}]} +{"alt_ids":[],"definition":"Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months.","id":"HP:0012532","name":"Chronic pain","obsolete":false,"parents":["HP:0012531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic pain"},{"scope":"EXACT","text":"Long-lasting pain"}]} +{"alt_ids":[],"definition":"Pain due to a stimulus that does not normally provoke pain.","id":"HP:0012533","name":"Allodynia","obsolete":false,"parents":["HP:0012531"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0031005"],"definition":"Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds.","id":"HP:0012534","name":"Dysesthesia","obsolete":false,"parents":["HP:0010832"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dysaesthesia"},{"scope":"RELATED","text":"Dysesthesias"},{"scope":"EXACT","text":"Hyperalgesia"},{"scope":"EXACT","text":"Hyperpathia"}]} +{"alt_ids":[],"definition":"An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process.","id":"HP:0012535","name":"Abnormal synaptic transmission","obsolete":false,"parents":["HP:0012638"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of neurotransmitter metabolism"}]} +{"alt_ids":[],"definition":"The presence of circulating autoantibodies to anticardiolipin in the mother.","id":"HP:0012536","name":"Maternal anticardiolipin antibody positive","obsolete":false,"parents":["HP:0011437"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction.","id":"HP:0012537","name":"Food intolerance","obsolete":false,"parents":["HP:0012337"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Food intolerance"},{"scope":"EXACT","text":"Non-allergic food hypersensitivity"}]} +{"alt_ids":[],"definition":"A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease.","id":"HP:0012538","name":"Gluten intolerance","obsolete":false,"parents":["HP:0001984"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gluten intolerance"},{"scope":"EXACT","text":"Gluten sensitivity"}]} +{"alt_ids":[],"definition":"A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells.","id":"HP:0012539","name":"Non-Hodgkin lymphoma","obsolete":false,"parents":["HP:0002665"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An epidermoid cyst in the armpit.","id":"HP:0012540","name":"Axillary epidermoid cyst","obsolete":false,"parents":["HP:0200040"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Armpit cyst"}]} +{"alt_ids":[],"definition":"Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum.","id":"HP:0012541","name":"Cephalohematoma","obsolete":false,"parents":["HP:0001787","HP:0001892"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cephalohaematoma"}]} +{"alt_ids":[],"definition":"Thickened nails without deformity.","id":"HP:0012542","name":"Onychauxis","obsolete":false,"parents":["HP:0001805"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of hemosiderin in the urine.","id":"HP:0012543","name":"Hemosiderinuria","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation above the upper limit of normal.","id":"HP:0012544","name":"Elevated circulating aldolase concentration","obsolete":false,"parents":["HP:0012400"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated aldolase level"}]} +{"alt_ids":[],"definition":"Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation below the lower limit of normal.","id":"HP:0012545","name":"Reduced circulating aldolase concentration","obsolete":false,"parents":["HP:0012400"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced aldolase level"}]} +{"alt_ids":[],"definition":"A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells.","id":"HP:0012546","name":"Skewed maternal X inactivation","obsolete":false,"parents":["HP:0002686"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anomalous movements of the eyes that occur without the subject wanting them to happen.","id":"HP:0012547","name":"Abnormal involuntary eye movements","obsolete":false,"parents":["HP:0000496"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0040291"],"definition":"Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers","id":"HP:0012548","name":"Fatty replacement of skeletal muscle","obsolete":false,"parents":["HP:0011805"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Adipose infiltration of muscle"},{"scope":"EXACT","text":"Fatty degeneration of skeletal muscle"},{"scope":"EXACT","text":"Muscle fat infiltration"},{"scope":"EXACT","text":"Myosteatosis"},{"scope":"EXACT","text":"Skeletal muscle fatty infiltration"},{"scope":"EXACT","text":"Steatosis of skeletal muscles"}]} +{"alt_ids":[],"definition":"A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva.","id":"HP:0012549","name":"Conjunctival lipoma","obsolete":false,"parents":["HP:0000502"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of varices (enlarged and convoluted blood vessels) in the colon.","id":"HP:0012550","name":"Colonic varices","obsolete":false,"parents":["HP:0002250"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lack of specific granules in neutrophils.","id":"HP:0012551","name":"Absent neutrophil specific granules","obsolete":false,"parents":["HP:0011992"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs.","id":"HP:0012552","name":"Increased neutrophil nuclear projections","obsolete":false,"parents":["HP:0011992"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail.","id":"HP:0012553","name":"Hypoplastic thumbnail","obsolete":false,"parents":["HP:0001804"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small thumbnail"},{"scope":"EXACT","text":"Underdeveloped thumbnail"}]} +{"alt_ids":[],"definition":"Absence of thumb nail.","id":"HP:0012554","name":"Absent thumbnail","obsolete":false,"parents":["HP:0001817"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absent nail of big toe.","id":"HP:0012555","name":"Absent nail of hallux","obsolete":false,"parents":["HP:0001802"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent big toe nail"},{"scope":"EXACT","text":"Absent nail of big toe"}]} +{"alt_ids":[],"definition":"The concentration of beta-alanine in the blood circulation is above the upper limit of normal.","id":"HP:0012556","name":"Hyperbetaalaninemia","obsolete":false,"parents":["HP:0033109"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated beta-alanine concentration"},{"scope":"EXACT","text":"Elevated beta-alanine level"},{"scope":"EXACT","text":"Elevated beta-alanine level in blood"},{"scope":"EXACT","text":"High blood beta-alanine levels"},{"scope":"EXACT","text":"Increased beta-alanine concentration"},{"scope":"EXACT","text":"Increased beta-alanine level"},{"scope":"EXACT","text":"Increased beta-alanine level in blood"}]} +{"alt_ids":[],"definition":"EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.","id":"HP:0012557","name":"EEG with centrotemporal focal spike waves","obsolete":false,"parents":["HP:0011197","HP:0033721"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal.","id":"HP:0012558","name":"Abnormal T3/T4 ratio","obsolete":false,"parents":["HP:0031508"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal.","id":"HP:0012559","name":"Increased T3/T4 ratio","obsolete":false,"parents":["HP:0012558"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal.","id":"HP:0012560","name":"Decreased T3/T4 ratio","obsolete":false,"parents":["HP:0012558"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of an aortic valve with one instead of the normal three cusps (flaps).","id":"HP:0012561","name":"Unicuspid aortic valve","obsolete":false,"parents":["HP:0031567"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.","id":"HP:0012562","name":"Premature epimetaphyseal fusion in hand","obsolete":false,"parents":["HP:0010588"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.","id":"HP:0012563","name":"Premature epimetaphyseal fusion in foot","obsolete":false,"parents":["HP:0010588"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.","id":"HP:0012564","name":"Premature epimetaphyseal fusion in tibia","obsolete":false,"parents":["HP:0010588"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.","id":"HP:0012565","name":"Premature epimetaphyseal fusion in fibula","obsolete":false,"parents":["HP:0010588"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.","id":"HP:0012566","name":"Premature epimetaphyseal fusion in radius","obsolete":false,"parents":["HP:0010588"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.","id":"HP:0012567","name":"Premature epimetaphyseal fusion in ulna","obsolete":false,"parents":["HP:0010588"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Edema in the region of the Lower eyelid.","id":"HP:0012568","name":"Lower eyelid edema","obsolete":false,"parents":["HP:0100540"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cellulitis of lower eyelid"},{"scope":"EXACT","text":"Fullness of lower eyelid"},{"scope":"EXACT","text":"Lower eyelid oedema"},{"scope":"EXACT","text":"Puffiness of lower eyelid"},{"scope":"EXACT","text":"Swelling of lower eyelid"}]} +{"alt_ids":[],"definition":"First period after the age of 15 years.","id":"HP:0012569","name":"Delayed menarche","obsolete":false,"parents":["HP:0000140","HP:0000823"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delayed start of first period"}]} +{"alt_ids":[],"definition":"A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities.","id":"HP:0012570","name":"Synovial sarcoma","obsolete":false,"parents":["HP:0030448"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Malignant synovioma"}]} +{"alt_ids":[],"definition":"A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder.","id":"HP:0012571","name":"Ureter fissus","obsolete":false,"parents":["HP:0000073"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partially duplicated ureter"}]} +{"alt_ids":[],"definition":"A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder.","id":"HP:0012572","name":"Ureter duplex","obsolete":false,"parents":["HP:0000073"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis.","id":"HP:0012573","name":"Global proximal tubulopathy","obsolete":false,"parents":["HP:0000114"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain.","id":"HP:0012574","name":"Mesangial hypercellularity","obsolete":false,"parents":["HP:0033231"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mesangial proliferation"}]} +{"alt_ids":[],"definition":"A structural anomaly of the nephron.","id":"HP:0012575","name":"Abnormal nephron morphology","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the nephron"}]} +{"alt_ids":[],"definition":"The presence of complement 3 deposits in the glomerulus.","id":"HP:0012576","name":"Glomerular C3 deposition","obsolete":false,"parents":["HP:0030949"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"C3 nephropathy"},{"scope":"EXACT","text":"Renal C3 deposition"}]} +{"alt_ids":[],"definition":"Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. 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kidney.","id":"HP:0012582","name":"Bilateral renal dysplasia","obsolete":false,"parents":["HP:0000110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"One sided hypoplasia of the kidney.","id":"HP:0012583","name":"Unilateral renal hypoplasia","obsolete":false,"parents":["HP:0000089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small kidney on one side"},{"scope":"EXACT","text":"Underdeveloped kidney on one side"}]} +{"alt_ids":[],"definition":"Two sided hypoplasia of the kidney.","id":"HP:0012584","name":"Bilateral renal hypoplasia","obsolete":false,"parents":["HP:0000089"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Atrophy of the kidney.","id":"HP:0012585","name":"Renal atrophy","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Kidney degeneration"}]} +{"alt_ids":[],"definition":"A two-sided form of atrophy of the kidney.","id":"HP:0012586","name":"Bilateral renal 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treatment.","id":"HP:0012589","name":"Multidrug-resistant nephrotic syndrome","obsolete":false,"parents":["HP:0000100"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal amount of urine production.","id":"HP:0012590","name":"Abnormal urine output","obsolete":false,"parents":["HP:0011036"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality in the concentration of electrolytes in the urine.","id":"HP:0012591","name":"Abnormal urinary electrolyte concentration","obsolete":false,"parents":["HP:0003110"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Urinary electrolyte imbalance"}]} +{"alt_ids":[],"definition":"Increased concentration of albumin in the urine.","id":"HP:0012592","name":"Albuminuria","obsolete":false,"parents":["HP:0020129"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared 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proteinuria","obsolete":false,"parents":["HP:0000093"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Severely increased levels of protein in the urine (1000-3000 mg per day in adults).","id":"HP:0012597","name":"Heavy proteinuria","obsolete":false,"parents":["HP:0000093"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Severely high blood protein levels"}]} +{"alt_ids":[],"definition":"An abnormal concentration of potassium(1+) in the urine.","id":"HP:0012598","name":"Abnormal urine potassium concentration","obsolete":false,"parents":["HP:0012591"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal urine K concentration"}]} +{"alt_ids":[],"definition":"An abnormal phosphate concentration in the urine.","id":"HP:0012599","name":"Abnormal urine phosphate concentration","obsolete":false,"parents":["HP:0012591"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal concentration of chloride in the urine.","id":"HP:0012600","name":"Abnormal urine chloride concentration","obsolete":false,"parents":["HP:0012591"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal urine Cl concentration"},{"scope":"EXACT","text":"Abnormal urine Cl- concentration"}]} +{"alt_ids":[],"definition":"An decreased concentration of chloride in the urine.","id":"HP:0012601","name":"Hypochloriduria","obsolete":false,"parents":["HP:0012600"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased urinary chloride"},{"scope":"EXACT","text":"Low urine chloride levels"}]} +{"alt_ids":[],"definition":"High urine chloride in the presence of hypochloridemia.","id":"HP:0012602","name":"Renal chloride wasting","obsolete":false,"parents":["HP:0012600"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Kidney chloride wasting"},{"scope":"EXACT","text":"Renal Cl wasting"},{"scope":"EXACT","text":"Renal Cl- wasting"}]} +{"alt_ids":[],"definition":"An abnormal concentration of sodium in the urine.","id":"HP:0012603","name":"Abnormal urine sodium concentration","obsolete":false,"parents":["HP:0012591"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal urine Na concentration"},{"scope":"EXACT","text":"Abnormal urine Na+ levels"}]} +{"alt_ids":[],"definition":"An abnormally decreased sodium concentration in the urine.","id":"HP:0012604","name":"Hyponatriuria","obsolete":false,"parents":["HP:0012603"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low urine sodium levels"}]} +{"alt_ids":["HP:0003608"],"definition":"An increased concentration of sodium(1+) in the urine.","id":"HP:0012605","name":"Hypernatriuria","obsolete":false,"parents":["HP:0012603"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased urinary sodium"}]} +{"alt_ids":[],"definition":"An abnormally increased sodium concentration in the urine in the presence of hyponatremia.","id":"HP:0012606","name":"Renal sodium 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levels"}]} +{"alt_ids":[],"definition":"Abnormal amount of urate in the urine.","id":"HP:0012610","name":"Abnormality of urinary uric acid level","obsolete":false,"parents":["HP:6000531"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0012611","name":"obsolete Increased urinary urate","obsolete":true,"parents":[],"replaced_by":["HP:0003149"],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal concentration of sulfate in the urine.","id":"HP:0012612","name":"Abnormal urinary sulfate concentration","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal urinary sulphate concentration"}]} +{"alt_ids":[],"definition":"Elevated concentration of SO4(2-), i.e., sulfate, in the urine.","id":"HP:0012613","name":"Increased urinary sulfate","obsolete":false,"parents":["HP:0012612"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased urinary sulphate"}]} +{"alt_ids":[],"definition":"An anomalous finding in the examination of the urine for cells.","id":"HP:0012614","name":"Abnormal urine cytology","obsolete":false,"parents":["HP:0003110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine.","id":"HP:0012615","name":"Cylindruria","obsolete":false,"parents":["HP:0012614"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Urinary casts"}]} +{"alt_ids":[],"definition":"Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.","id":"HP:0012616","name":"Leukocyte cylindruria","obsolete":false,"parents":["HP:0031197"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"White blood cell casts"}]} +{"alt_ids":[],"definition":"Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.","id":"HP:0012617","name":"Erythrocyte cylindruria","obsolete":false,"parents":["HP:0031197"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Red blood cell casts"},{"scope":"EXACT","text":"Urinary erythrocyte cast"}]} +{"alt_ids":[],"definition":"A cyst located along the allantois canal.","id":"HP:0012618","name":"Urachal cyst","obsolete":false,"parents":["HP:0010478"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder.","id":"HP:0012619","name":"Multiple bladder diverticula","obsolete":false,"parents":["HP:0000015"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multiple pouches in bladder wall"}]} +{"alt_ids":[],"definition":"A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate.","id":"HP:0012620","name":"Cloacal abnormality","obsolete":false,"parents":["HP:0000119","HP:0010866"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel.","id":"HP:0012621","name":"Persistent cloaca","obsolete":false,"parents":["HP:0012620"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cloacogenic bladder"}]} +{"alt_ids":["HP:0000106","HP:0001918","HP:0008671"],"definition":"Functional anomaly of the kidney persisting for at least three months.","id":"HP:0012622","name":"Chronic kidney disease","obsolete":false,"parents":["HP:0000083"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CKD"},{"scope":"EXACT","text":"Chronic kidney disease"},{"scope":"RELATED","text":"Loss of renal function"},{"scope":"RELATED","text":"Progressive renal failure"},{"scope":"RELATED","text":"Progressive renal insufficiency"},{"scope":"RELATED","text":"Renal failure, progressive"},{"scope":"RELATED","text":"Renal insufficiency, progressive"}]} +{"alt_ids":[],"definition":"A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2).","id":"HP:0012623","name":"Stage 1 chronic kidney disease","obsolete":false,"parents":["HP:0012622"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2).","id":"HP:0012624","name":"Stage 2 chronic kidney disease","obsolete":false,"parents":["HP:0012622"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2).","id":"HP:0012625","name":"Stage 3 chronic kidney disease","obsolete":false,"parents":["HP:0012622"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2).","id":"HP:0012626","name":"Stage 4 chronic kidney disease","obsolete":false,"parents":["HP:0012622"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Stage 4 chronic kidney disease"}]} +{"alt_ids":[],"definition":"Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor.","id":"HP:0012627","name":"Pseudoexfoliation","obsolete":false,"parents":["HP:0004328"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place.","id":"HP:0012628","name":"Abnormal suspensory ligament of lens morphology","obsolete":false,"parents":["HP:0004328"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the suspensory ligament of lens"},{"scope":"EXACT","text":"Abnormality of zinn's membrane"},{"scope":"EXACT","text":"Ciliary zonule abnormality"},{"scope":"EXACT","text":"Zonule of zinn abnormality"}]} +{"alt_ids":[],"definition":"Tremulousness (trembling) of the lens of the eye.","id":"HP:0012629","name":"Phakodonesis","obsolete":false,"parents":["HP:0000517"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Phacodonesis"},{"scope":"EXACT","text":"Trembling eye lens"}]} +{"alt_ids":[],"definition":"An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm.","id":"HP:0012630","name":"Abnormal trabecular meshwork morphology","obsolete":false,"parents":["HP:0000593"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the trabecular meshwork"}]} +{"alt_ids":[],"definition":"Accumulation of abnormal amounts of pigment within the trabecular meshwork.","id":"HP:0012631","name":"Pigment deposition in the trabecular meshwork","obsolete":false,"parents":["HP:0012630"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye.","id":"HP:0012632","name":"Abnormal intraocular pressure","obsolete":false,"parents":["HP:0012373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal eye pressure"},{"scope":"EXACT","text":"Abnormal intraocular pressure"}]} +{"alt_ids":[],"definition":"A difference in the amount of intraocular pressure in the right and left eye.","id":"HP:0012633","name":"Asymmetry of intraocular pressure","obsolete":false,"parents":["HP:0012632"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor.","id":"HP:0012634","name":"Iris pigment dispersion","obsolete":false,"parents":["HP:0008034"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduction in the amount of blood flow to the iris.","id":"HP:0012635","name":"Iris hypoperfusion","obsolete":false,"parents":["HP:0007905"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Blockage of a retinal vein or venule, occurring typically at an arteriovenous crossing. Typically presenting with dilated veins, retinal hemorrhages and in some cases non-perfusion.","id":"HP:0012636","name":"Retinal venous occlusion","obsolete":false,"parents":["HP:0008046"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Retinal vein occlusion"}]} +{"alt_ids":[],"definition":"High urine calcium in the presence of hypocalcemia.","id":"HP:0012637","name":"Renal calcium wasting","obsolete":false,"parents":["HP:0011280"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Kidney Ca wasting"},{"scope":"EXACT","text":"Kidney Ca2+ wasting"},{"scope":"EXACT","text":"Kidney calcium wasting"},{"scope":"EXACT","text":"Renal Ca wasting"},{"scope":"EXACT","text":"Renal Ca2+ wasting"}]} +{"alt_ids":[],"definition":"A functional anomaly of the nervous system.","id":"HP:0012638","name":"Abnormal nervous system physiology","obsolete":false,"parents":["HP:0000707"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of nervous system physiology"}]} +{"alt_ids":[],"definition":"A structural anomaly of the nervous system.","id":"HP:0012639","name":"Abnormal nervous system morphology","obsolete":false,"parents":["HP:0000707"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of nervous system"},{"scope":"EXACT","text":"Abnormality of nervous system morphology"}]} +{"alt_ids":[],"definition":"A deviation from the norm of the intracranial pressure.","id":"HP:0012640","name":"Abnormality of intracranial pressure","obsolete":false,"parents":["HP:0012638"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.","id":"HP:0012641","name":"Decreased intracranial pressure","obsolete":false,"parents":["HP:0012640"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intracranial hypotension"}]} +{"alt_ids":[],"definition":"Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles.","id":"HP:0012642","name":"Cerebellar agenesis","obsolete":false,"parents":["HP:0007360"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0500088"],"definition":"Decreased amount of pigmentation in the fovea.","id":"HP:0012643","name":"Foveal hypopigmentation","obsolete":false,"parents":["HP:0030493"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foveal depigmentation"}]} +{"alt_ids":[],"definition":"An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging.","id":"HP:0012644","name":"Increased caudate lactate level","obsolete":false,"parents":["HP:0002339"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve.","id":"HP:0012645","name":"Enlarged peripheral nerve","obsolete":false,"parents":["HP:0000759"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Enlarged peripheral nerves"}]} +{"alt_ids":[],"definition":"A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex.","id":"HP:0012646","name":"Retractile testis","obsolete":false,"parents":["HP:0000035"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Retractile testicle"}]} +{"alt_ids":[],"definition":"Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.","id":"HP:0012647","name":"Abnormal inflammatory response","obsolete":false,"parents":["HP:0010978"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal inflammatory response"}]} +{"alt_ids":[],"definition":"An abnormal reduction in the inflammatory response to injury or infection.","id":"HP:0012648","name":"Decreased inflammatory response","obsolete":false,"parents":["HP:0012647"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased inflammatory response"}]} +{"alt_ids":[],"definition":"A abnormal increase in the inflammatory response to injury or infection.","id":"HP:0012649","name":"Increased inflammatory response","obsolete":false,"parents":["HP:0012647"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007095"],"definition":"Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly.","id":"HP:0012650","name":"Perisylvian polymicrogyria","obsolete":false,"parents":["HP:0002126"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Frontoparietal polymicrogyria"}]} +{"alt_ids":[],"definition":"A severe form of gait ataxia such that an affected person cannot walk at all.","id":"HP:0012651","name":"Abasia","obsolete":false,"parents":["HP:0002066"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Asthma attacks following exercise.","id":"HP:0012652","name":"Exercise-induced asthma","obsolete":false,"parents":["HP:0002099"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Exercise-induced asthma"}]} +{"alt_ids":[],"definition":"Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine.","id":"HP:0012653","name":"Status asthmaticus","obsolete":false,"parents":["HP:0002099"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acute severe asthma"}]} +{"alt_ids":[],"definition":"Abnormal concentration of dopamine in the cerebrospinal fluid (CSF).","id":"HP:0012654","name":"Abnormal CSF dopamine concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal CSF dopamine level"}]} +{"alt_ids":[],"definition":"Increased concentration of dopamine in the cerebrospinal fluid (CSF).","id":"HP:0012655","name":"Elevated CSF dopamine concentration","obsolete":false,"parents":["HP:0012654"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased concentration of dopamine in the cerebrospinal fluid (CSF).","id":"HP:0012656","name":"Reduced CSF dopamine concentration","obsolete":false,"parents":["HP:0012654"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain.","id":"HP:0012657","name":"Abnormal brain positron emission tomography","obsolete":false,"parents":["HP:0410263"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal brain PET scan"}]} +{"alt_ids":[],"definition":"An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity.","id":"HP:0012658","name":"Abnormal brain FDG positron emission tomography","obsolete":false,"parents":["HP:0012657"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal brain FDG PET scan"}]} +{"alt_ids":[],"definition":"Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan.","id":"HP:0012659","name":"Prefrontal hypometabolism in FDG PET","obsolete":false,"parents":["HP:0012658"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan.","id":"HP:0012660","name":"Thalamic hypometabolism in FDG PET","obsolete":false,"parents":["HP:0012658"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan.","id":"HP:0012661","name":"Hypothalamic hypometabolism in FDG PET","obsolete":false,"parents":["HP:0012658"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan.","id":"HP:0012662","name":"Parietal hypometabolism in FDG PET","obsolete":false,"parents":["HP:0012658"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent.","id":"HP:0012663","name":"Mildly reduced left ventricular ejection fraction","obsolete":false,"parents":["HP:0012664"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mildly reduced ejection fraction"}]} +{"alt_ids":[],"definition":"A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.","id":"HP:0012664","name":"Reduced left ventricular ejection fraction","obsolete":false,"parents":["HP:0025169","HP:0034314"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced ejection fraction"}]} +{"alt_ids":[],"definition":"A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle, defined as a left ventricular ejection fraction of 30-39 percent.","id":"HP:0012665","name":"Moderately reduced left ventricular ejection fraction","obsolete":false,"parents":["HP:0012664"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Moderately reduced ejection fraction"}]} +{"alt_ids":[],"definition":"A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.","id":"HP:0012666","name":"Severely reduced left ventricular ejection fraction","obsolete":false,"parents":["HP:0012664"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Severely reduced ejection fraction"}]} +{"alt_ids":[],"definition":"An abnormal motion of a segment of the left ventricle during the cardiac cycle.","id":"HP:0012667","name":"Regional left ventricular wall motion abnormality","obsolete":false,"parents":["HP:0005162"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A vasovagal episode or vasovagal syncope is the most common form of reflex syncope. Reflex syncope is a general term used to describe types of syncope resulting from a failure in autoregulation of blood pressure, and ultimately, in cerebral perfusion pressure resulting in transient loss of consciousness. The mechanisms responsible for this are complex and involve both depression of cardiac output as well as a decrease in vascular tone.","id":"HP:0012668","name":"Vasovagal syncope","obsolete":false,"parents":["HP:0001279"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neurocardiogenic syncope"},{"scope":"EXACT","text":"Reflex syncope"},{"scope":"EXACT","text":"Situational syncope"},{"scope":"EXACT","text":"Vasovagal episode"}]} +{"alt_ids":[],"definition":"An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion.","id":"HP:0012669","name":"Carotid sinus syncope","obsolete":false,"parents":["HP:0001279"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Syncope following a quick change in position from lying down to standing.","id":"HP:0012670","name":"Orthostatic syncope","obsolete":false,"parents":["HP:0001279"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abulia is characterized by difficulty in initiating and sustaining spontaneous movements; the person often appears frozen but will move hesitantly on request. There are frequently substantial reductions in emotional responsiveness, spontaneous speech, and social interaction. The individual appears to be content to remain still and inactive with minimal movement, but moves or reacts hesitantly in response to interactions.","id":"HP:0012671","name":"Abulia","obsolete":false,"parents":["HP:0000745"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aboulia"}]} +{"alt_ids":[],"definition":"The combined absence of spontaneous movement (akinesia) and speech (mutism). There may be eye movements consistent with visual tracking and the person may remember the events occurring at the time of the experience of stupor.","id":"HP:0012672","name":"Akinetic mutism","obsolete":false,"parents":["HP:0000745"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Stuporous mutism"}]} +{"alt_ids":[],"definition":"A failure to develop of the upper vagina.","id":"HP:0012673","name":"Aplasia of the upper vagina","obsolete":false,"parents":["HP:0003250"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent upper vagina"}]} +{"alt_ids":[],"definition":"A failure to develop of the lower part of the vagina.","id":"HP:0012674","name":"Aplasia of the lower vagina","obsolete":false,"parents":["HP:0003250"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent lower vagina"},{"scope":"EXACT","text":"Agenesis of the lower vagina"}]} +{"alt_ids":[],"definition":"An abnormal build up of iron (Fe) in brain tissue.","id":"HP:0012675","name":"Iron accumulation in brain","obsolete":false,"parents":["HP:0012443"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brain iron deposition"},{"scope":"EXACT","text":"Iron accumulation in brain"}]} +{"alt_ids":[],"definition":"An anomalous build up of copper (Cu) in the brain.","id":"HP:0012676","name":"Copper accumulation in brain","obsolete":false,"parents":["HP:0012443","HP:0032243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brain copper accumulation"},{"scope":"EXACT","text":"Copper accumulation in brain"}]} +{"alt_ids":[],"definition":null,"id":"HP:0012677","name":"obsolete Iron accumulation in globus pallidus","obsolete":true,"parents":[],"replaced_by":["HP:0002454"],"synonyms":[]} +{"alt_ids":[],"definition":"An anomalous build up of iron (Fe) in the substantia nigra.","id":"HP:0012678","name":"Iron accumulation in substantia nigra","obsolete":false,"parents":["HP:0012675","HP:0045007"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.","id":"HP:0012679","name":"Widened interpedicular distance","obsolete":false,"parents":["HP:0008438"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin.","id":"HP:0012680","name":"Abnormality of the pineal gland","obsolete":false,"parents":["HP:0000818"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural abnormality of the pineal gland.","id":"HP:0012681","name":"Abnormal pineal morphology","obsolete":false,"parents":["HP:0012443","HP:0012680"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of pineal morphology"}]} +{"alt_ids":[],"definition":"Accumulation of calcium salts in the pineal gland.","id":"HP:0012682","name":"Pineal gland calcification","obsolete":false,"parents":["HP:0012681"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland.","id":"HP:0012683","name":"Pineal cyst","obsolete":false,"parents":["HP:0010576","HP:0012681"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland.","id":"HP:0012684","name":"Abnormal pineal volume","obsolete":false,"parents":["HP:0012681"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland.","id":"HP:0012685","name":"Decreased pineal volume","obsolete":false,"parents":["HP:0012684"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland.","id":"HP:0012686","name":"Increased pineal volume","obsolete":false,"parents":["HP:0012684"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present.","id":"HP:0012687","name":"Agenesis of pineal gland","obsolete":false,"parents":["HP:0002977","HP:0012681"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional abnormality of the pineal gland.","id":"HP:0012688","name":"Abnormality of pineal physiology","obsolete":false,"parents":["HP:0012638","HP:0012680"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland.","id":"HP:0012689","name":"Abnormal pineal melatonin secretion","obsolete":false,"parents":["HP:0012688"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus.","id":"HP:0012690","name":"T2 hypointense thalamus","obsolete":false,"parents":["HP:0012696"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus.","id":"HP:0012691","name":"Focal T2 hypointense thalamic lesion","obsolete":false,"parents":["HP:0012696"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus.","id":"HP:0012692","name":"Focal T2 hyperintense thalamic lesion","obsolete":false,"parents":["HP:0012696"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deviation from the normal range of size of the thalamus.","id":"HP:0012693","name":"Abnormal thalamic size","obsolete":false,"parents":["HP:0010663"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in the quantity of space occupied by the thalamus.","id":"HP:0012694","name":"Enlarged thalamic volume","obsolete":false,"parents":["HP:0012693"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction in the quantity of space occupied by the thalamus.","id":"HP:0012695","name":"Decreased thalamic volume","obsolete":false,"parents":["HP:0012693"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus.","id":"HP:0012696","name":"Abnormal thalamic MRI signal intensity","obsolete":false,"parents":["HP:0010663"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased size of the basal ganglia.","id":"HP:0012697","name":"Small basal ganglia","obsolete":false,"parents":["HP:0002134"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal proliferation of glial cells in the cerebellum.","id":"HP:0012698","name":"Cerebellar gliosis","obsolete":false,"parents":["HP:0001317","HP:0002171"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural abnormality of a diaphysis of the leg.","id":"HP:0012699","name":"Anomaly of lower limb diaphyses","obsolete":false,"parents":["HP:0000940"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anomaly of shaft of long bone of lower limb"}]} +{"alt_ids":[],"definition":"A functional anomaly of the large intestine.","id":"HP:0012700","name":"Abnormal large intestine physiology","obsolete":false,"parents":["HP:0025032"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A sudden, irresistible need to have a bowel movement.","id":"HP:0012701","name":"Bowel urgency","obsolete":false,"parents":["HP:0012700"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Faecal urgency"},{"scope":"EXACT","text":"Fecal urgency"}]} +{"alt_ids":[],"definition":"A repeated, painful urge to defecate without excreting stool.","id":"HP:0012702","name":"Tenesmus","obsolete":false,"parents":["HP:0012700"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid.","id":"HP:0012703","name":"Abnormal subarachnoid space morphology","obsolete":false,"parents":["HP:0002011"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the subarachnoid space"}]} +{"alt_ids":[],"definition":"An increase in size of the anatomic space between the arachnoid membrane and pia mater.","id":"HP:0012704","name":"Widened subarachnoid space","obsolete":false,"parents":["HP:0012703"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged subarachnoid space"},{"scope":"RELATED","text":"Widened subarachnoid spaces"}]} +{"alt_ids":[],"definition":"An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS).","id":"HP:0012705","name":"Abnormal metabolic brain imaging by MRS","obsolete":false,"parents":["HP:0410263"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).","id":"HP:0012706","name":"Elevated brain choline level by MRS","obsolete":false,"parents":["HP:0025047"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).","id":"HP:0012707","name":"Elevated brain lactate level by MRS","obsolete":false,"parents":["HP:0025045"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).","id":"HP:0012708","name":"Reduced brain N-acetyl aspartate level by MRS","obsolete":false,"parents":["HP:0025052"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"MR Spectroscopy: N-acetylaspartate low in brain"},{"scope":"EXACT","text":"Reduced brain N-acetyl aspartate level by magnetic resonance spectroscopy"}]} +{"alt_ids":[],"definition":"A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS).","id":"HP:0012709","name":"Abnormal brain choline/creatine ratio by MRS","obsolete":false,"parents":["HP:0012705"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excessive growth of a nail laterally into the nail fold.","id":"HP:0012710","name":"Ingrown nail","obsolete":false,"parents":["HP:0001597"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ingrown nail"}]} +{"alt_ids":[],"definition":"A delay in the process of formation and maturation of the epiphysis of one or more vertebrae.","id":"HP:0012711","name":"Delayed ossification of vertebral epiphysis","obsolete":false,"parents":["HP:0100569"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Delayed maturation of the end part of the vertebral bone"}]} +{"alt_ids":[],"definition":"A mild form of hearing impairment (26-40 dB) in which individuals can hear speech at a normal volume from about one meter away but may struggle with softer sounds, such as whispers or quiet conversations. Understanding speech in noisy environments can also be challenging.","id":"HP:0012712","name":"Mild hearing impairment","obsolete":false,"parents":["HP:0000365"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mild hearing impairment"}]} +{"alt_ids":[],"definition":"A moderate form of hearing impairment (41-60 dB) in which speech must be spoken at a raised volume from one meter away for individuals to hear clearly. Normal conversations, particularly in the presence of background noise, may be difficult to follow.","id":"HP:0012713","name":"Moderate hearing impairment","obsolete":false,"parents":["HP:0000365"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Moderate hearing impairment"}]} +{"alt_ids":[],"definition":"A severe form of hearing impairment (61-80 dB) in which individuals can only hear a few words spoken at a high volume and experience significant difficulty perceiving speech at normal levels.","id":"HP:0012714","name":"Severe hearing impairment","obsolete":false,"parents":["HP:0000365"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Severe deafness"},{"scope":"EXACT","text":"Severe hearing impairment"},{"scope":"EXACT","text":"Severe hearing loss"}]} +{"alt_ids":[],"definition":"A profound (essentially complete) form of hearing impairment (over 80 dB) in which speech is inaudible, even when spoken loudly.","id":"HP:0012715","name":"Profound hearing impairment","obsolete":false,"parents":["HP:0000365"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Profound hearing impairment"}]} +{"alt_ids":[],"definition":"The presence of a moderate form of conductive hearing impairment.","id":"HP:0012716","name":"Moderate conductive hearing impairment","obsolete":false,"parents":["HP:0000405","HP:0012713"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Conductive hearing loss, moderate"}]} +{"alt_ids":[],"definition":"A severe form of conductive hearing impairment.","id":"HP:0012717","name":"Severe conductive hearing impairment","obsolete":false,"parents":["HP:0000405","HP:0012714"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Conductive hearing loss, severe"}]} +{"alt_ids":[],"definition":"Abnormal structure of the gastrointestinal tract.","id":"HP:0012718","name":"Abnormal gastrointestinal tract morphology","obsolete":false,"parents":["HP:0011024","HP:0025033"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of the digestive system"},{"scope":"EXACT","text":"Morphological abnormality of the GI tract"},{"scope":"EXACT","text":"Morphological abnormality of the gastrointestinal tract"},{"scope":"EXACT","text":"Morphological anomaly of the digestive system"}]} +{"alt_ids":[],"definition":"Abnormal functionality of the gastrointestinal tract.","id":"HP:0012719","name":"Functional abnormality of the gastrointestinal tract","obsolete":false,"parents":["HP:0011024","HP:0025032"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Functional abnormality of the GI tract"},{"scope":"EXACT","text":"GI dysfunction"}]} +{"alt_ids":["HP:0100637"],"definition":"Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity.","id":"HP:0012720","name":"Neoplasm of the nose","obsolete":false,"parents":["HP:0012289","HP:0100630"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nasal neoplasm"},{"scope":"EXACT","text":"Nasal tumor"},{"scope":"EXACT","text":"Nasal tumour"},{"scope":"EXACT","text":"Neoplasia of the nose"},{"scope":"EXACT","text":"Nose cancer"},{"scope":"EXACT","text":"Tumor of the nose"},{"scope":"EXACT","text":"Tumour of the nose"}]} +{"alt_ids":[],"definition":"A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.","id":"HP:0012721","name":"Venous malformation","obsolete":false,"parents":["HP:0002624"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Venous malformations"}]} +{"alt_ids":[],"definition":"Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.","id":"HP:0012722","name":"Heart block","obsolete":false,"parents":["HP:0031546"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria.","id":"HP:0012723","name":"Sinoatrial block","obsolete":false,"parents":["HP:0011702","HP:0012722"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Edema in the region of the upper eyelid.","id":"HP:0012724","name":"Upper eyelid edema","obsolete":false,"parents":["HP:0100540"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cellulitis of upper eyelid"},{"scope":"EXACT","text":"Fullness of upper eyelid"},{"scope":"EXACT","text":"Puffiness of upper eyelid"},{"scope":"EXACT","text":"Swelling of upper eyelid"},{"scope":"EXACT","text":"Upper eyelid oedema"}]} +{"alt_ids":[],"definition":"A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.","id":"HP:0012725","name":"Cutaneous syndactyly","obsolete":false,"parents":["HP:0001159"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cutaneous syndactyly of digits"},{"scope":"EXACT","text":"Syndactyly, cutaneous"}]} +{"alt_ids":[],"definition":"An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes.","id":"HP:0012726","name":"Episodic hypokalemia","obsolete":false,"parents":["HP:0002900"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent low potassium"}]} +{"alt_ids":[],"definition":"An abnormal localized widening (dilatation) of the thoracic aorta.","id":"HP:0012727","name":"Thoracic aortic aneurysm","obsolete":false,"parents":["HP:0004942"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Dilatation of the thoracic aorta"}]} +{"alt_ids":[],"definition":"A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall","id":"HP:0012728","name":"Fusiform descending thoracic aortic aneurysm","obsolete":false,"parents":["HP:0004959"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Dilatation of the fusiform descending thoracic aorta"}]} +{"alt_ids":[],"definition":"An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall","id":"HP:0012729","name":"Saccular descending thoracic aortic aneurysm","obsolete":false,"parents":["HP:0004959"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Dilatation of the saccular descending thoracic aorta"}]} +{"alt_ids":[],"definition":"Absence of the tongue owing to a developmental abnormality.","id":"HP:0012730","name":"Aglossia","obsolete":false,"parents":["HP:0010295"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of tongue"},{"scope":"EXACT","text":"Failure of development of tongue"},{"scope":"BROAD","text":"Missing tongue"}]} +{"alt_ids":["HP:0011765"],"definition":"Abnormal anatomic location of the anterior pituitary gland.","id":"HP:0012731","name":"Ectopic anterior pituitary gland","obsolete":false,"parents":["HP:0011747"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the anus or rectum.","id":"HP:0012732","name":"Anorectal anomaly","obsolete":false,"parents":["HP:0012718"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.","id":"HP:0012733","name":"Macule","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flat, discolored area of skin"},{"scope":"EXACT","text":"Flat, discoloured area of skin"}]} +{"alt_ids":[],"definition":"Low blood glucose is accompanied by elevated levels of ketone bodies in the body.","id":"HP:0012734","name":"Ketotic hypoglycemia","obsolete":false,"parents":["HP:0001943"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ketotic low blood sugar"}]} +{"alt_ids":[],"definition":"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.","id":"HP:0012735","name":"Cough","obsolete":false,"parents":["HP:0002795"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cough"},{"scope":"EXACT","text":"Coughing"}]} +{"alt_ids":[],"definition":"A profound delay in the achievement of motor or mental milestones in the domains of development of a child.","id":"HP:0012736","name":"Profound global developmental delay","obsolete":false,"parents":["HP:0001263"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Global developmental delay, profound"},{"scope":"RELATED","text":"Psychomotor retardation, profound"}]} +{"alt_ids":[],"definition":"A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.","id":"HP:0012737","name":"Small intestinal polyp","obsolete":false,"parents":["HP:0005266","HP:0100833"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Agenesis of canine tooth.","id":"HP:0012738","name":"Agenesis of canine","obsolete":false,"parents":["HP:0001592","HP:0011078"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Absence of canine"},{"scope":"RELATED","text":"Absence of eye tooth"},{"scope":"EXACT","text":"Absent canines"},{"scope":"EXACT","text":"Failure of development of canine"},{"scope":"EXACT","text":"Failure of development of eye tooth"},{"scope":"RELATED","text":"Missing canine"},{"scope":"RELATED","text":"Missing eye tooth"}]} +{"alt_ids":[],"definition":"Failure to develop of the small intestine.","id":"HP:0012739","name":"Agenesis of the small intestine","obsolete":false,"parents":["HP:0002244"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small bowel agenesis"},{"scope":"EXACT","text":"Undeveloped small intestine"}]} +{"alt_ids":[],"definition":"A tumor of the skin or mucous membrane with finger-like projections.","id":"HP:0012740","name":"Papilloma","obsolete":false,"parents":["HP:0008069"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","id":"HP:0012741","name":"Unilateral cryptorchidism","obsolete":false,"parents":["HP:0000028"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cryptorchidism, unilateral"}]} +{"alt_ids":["HP:0040037"],"definition":"Fingernail that appears thin when viewed on end.","id":"HP:0012742","name":"Thin fingernail","obsolete":false,"parents":["HP:0001231","HP:0001816"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thin fingernail"}]} +{"alt_ids":[],"definition":"Excessive fat around the stomach and abdomen.","id":"HP:0012743","name":"Abdominal obesity","obsolete":false,"parents":["HP:0001513"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abdominal obesity"},{"scope":"EXACT","text":"Central obesity"}]} +{"alt_ids":[],"definition":"Failure of the femur to develop.","id":"HP:0012744","name":"Femoral aplasia","obsolete":false,"parents":["HP:0005613"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent femur"},{"scope":"EXACT","text":"Absent thighbone"},{"scope":"EXACT","text":"Aplasia of the femur"}]} +{"alt_ids":[],"definition":"Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.","id":"HP:0012745","name":"Short palpebral fissure","obsolete":false,"parents":["HP:0200007"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased height of palpebral fissure"},{"scope":"EXACT","text":"Short opening between the eyelids"},{"scope":"EXACT","text":"Short palpebral fissures"}]} +{"alt_ids":["HP:0040038"],"definition":"Toenail that appears thin when viewed on end.","id":"HP:0012746","name":"Thin toenail","obsolete":false,"parents":["HP:0001816","HP:0008388"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thin toenail"},{"scope":"RELATED","text":"Thin toenails"}]} +{"alt_ids":[],"definition":"A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem.","id":"HP:0012747","name":"Abnormal brainstem MRI signal intensity","obsolete":false,"parents":["HP:0002363"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem.","id":"HP:0012748","name":"Focal T2 hyperintense brainstem lesion","obsolete":false,"parents":["HP:0012747"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem.","id":"HP:0012749","name":"Focal T2 hypointense brainstem lesion","obsolete":false,"parents":["HP:0012747"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem.","id":"HP:0012750","name":"T2 hypointense brainstem","obsolete":false,"parents":["HP:0012747"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia.","id":"HP:0012751","name":"Abnormal basal ganglia MRI signal intensity","obsolete":false,"parents":["HP:0002134"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia.","id":"HP:0012752","name":"Focal T2 hypointense basal ganglia lesion","obsolete":false,"parents":["HP:0012751"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia.","id":"HP:0012753","name":"T2 hypointense basal ganglia","obsolete":false,"parents":["HP:0012751"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased amount of myelin in the central nervous system.","id":"HP:0012754","name":"CNS hypermyelination","obsolete":false,"parents":["HP:0011400"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase in size of the brainstem.","id":"HP:0012755","name":"Enlarged brainstem","obsolete":false,"parents":["HP:0002363"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased polymorphonuclear cell count in the cerebrospinal fluid.","id":"HP:0012756","name":"CSF polymorphonuclear pleocytosis","obsolete":false,"parents":["HP:0012229"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions.","id":"HP:0012757","name":"Abnormal neuron morphology","obsolete":false,"parents":["HP:0012639"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal neuron shape"},{"scope":"EXACT","text":"Abnormal neuronal morphology"}]} +{"alt_ids":[],"definition":"Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.","id":"HP:0012758","name":"Neurodevelopmental delay","obsolete":false,"parents":["HP:0012759"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"NDD"}]} +{"alt_ids":[],"definition":"A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.","id":"HP:0012759","name":"Neurodevelopmental abnormality","obsolete":false,"parents":["HP:0012638"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0000735","HP:5200004","HP:5200103","HP:5200131"],"definition":"A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person. This results in difficulty interacting with others through emotional, physical, or verbal communication.","id":"HP:0012760","name":"Reduced social responsiveness","obsolete":false,"parents":["HP:0025732"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Impaired social interaction"},{"scope":"EXACT","text":"Impaired social interactions"},{"scope":"EXACT","text":"Impaired social reciprocity"},{"scope":"EXACT","text":"Poor social interactions"}]} +{"alt_ids":["HP:0200110"],"definition":"A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent.","id":"HP:0012761","name":"Absent mastoid","obsolete":false,"parents":["HP:0000264"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent mastoids"},{"scope":"EXACT","text":"Failure of development of mastoid"},{"scope":"EXACT","text":"Mastoid agenesis"}]} +{"alt_ids":[],"definition":"The presence of atrophy (wasting) of the cerebral white matter.","id":"HP:0012762","name":"Cerebral white matter atrophy","obsolete":false,"parents":["HP:0002500"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A sudden attack of dyspnea that occurs while the affected person is at rest.","id":"HP:0012763","name":"Paroxysmal dyspnea","obsolete":false,"parents":["HP:0002094"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Paroxysmal dyspnoea"}]} +{"alt_ids":[],"definition":"A sensation of breathlessness in the recumbent position, relieved by sitting or standing.","id":"HP:0012764","name":"Orthopnea","obsolete":false,"parents":["HP:0002094"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum.","id":"HP:0012765","name":"Widened cerebellar subarachnoid space","obsolete":false,"parents":["HP:0012704"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum.","id":"HP:0012766","name":"Widened cerebral subarachnoid space","obsolete":false,"parents":["HP:0012704"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from normal size of the placenta.","id":"HP:0012767","name":"Abnormal placental size","obsolete":false,"parents":["HP:0100767"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Respiratory failure in the newborn.","id":"HP:0012768","name":"Neonatal asphyxia","obsolete":false,"parents":["HP:0002643"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Asphyxia neonatorum"}]} +{"alt_ids":[],"definition":"A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)","id":"HP:0012769","name":"Abnormal arm span","obsolete":false,"parents":["HP:0002817"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal arm span"}]} +{"alt_ids":[],"definition":"Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).","id":"HP:0012770","name":"Reduced arm span","obsolete":false,"parents":["HP:0012769"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced arm span"}]} +{"alt_ids":[],"definition":"Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).","id":"HP:0012771","name":"Increased arm span","obsolete":false,"parents":["HP:0012769"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased arm span"}]} +{"alt_ids":[],"definition":"A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.","id":"HP:0012772","name":"Abnormal upper to lower segment ratio","obsolete":false,"parents":["HP:0000002"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present.","id":"HP:0012773","name":"Reduced upper to lower segment ratio","obsolete":false,"parents":["HP:0012772"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.","id":"HP:0012774","name":"Increased upper to lower segment ratio","obsolete":false,"parents":["HP:0012772"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel.","id":"HP:0012775","name":"Stellate iris","obsolete":false,"parents":["HP:0008034"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the ciliary body.","id":"HP:0012776","name":"Abnormal ciliary body morphology","obsolete":false,"parents":["HP:0000553"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the ciliary body"}]} +{"alt_ids":[],"definition":"A benign or malignant tumor (abnormal growth of tissue) of the retina.","id":"HP:0012777","name":"Retinal neoplasm","obsolete":false,"parents":["HP:0000479","HP:0100012"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte.","id":"HP:0012778","name":"Retinal astrocytic hamartoma","obsolete":false,"parents":["HP:0009594"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hearing loss that occurs acutely and resolves completely.","id":"HP:0012779","name":"Transient hearing impairment","obsolete":false,"parents":["HP:0000365"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tumor (abnormal growth of tissue) of the ear.","id":"HP:0012780","name":"Neoplasm of the ear","obsolete":false,"parents":["HP:0011793","HP:0031703"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ear tumor"},{"scope":"EXACT","text":"Ear tumour"}]} +{"alt_ids":[],"definition":"A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz).","id":"HP:0012781","name":"Mid-frequency hearing loss","obsolete":false,"parents":["HP:0000365"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe.","id":"HP:0012782","name":"Perilobar nephrogenic rest","obsolete":false,"parents":["HP:0100880"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Perilobar nephrogenic rests"}]} +{"alt_ids":[],"definition":"A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls.","id":"HP:0012783","name":"Intralobar nephrogenic rest","obsolete":false,"parents":["HP:0100880"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intralobar nephrogenic rests"}]} +{"alt_ids":[],"definition":"Inflammation of the connective and adipose tissues surrounding the kidney.","id":"HP:0012784","name":"Perinephritis","obsolete":false,"parents":["HP:0000123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.","id":"HP:0012785","name":"Flexion contracture of finger","obsolete":false,"parents":["HP:0034681"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flexion deformity of finger"}]} +{"alt_ids":[],"definition":"Repeated infections of the urinary bladder.","id":"HP:0012786","name":"Recurrent cystitis","obsolete":false,"parents":["HP:0000010","HP:5210191"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent bladder infections"}]} +{"alt_ids":[],"definition":"Repeated episodes of pyelonephritis.","id":"HP:0012787","name":"Recurrent pyelonephritis","obsolete":false,"parents":["HP:0000010","HP:5210195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A net-like pattern of increased pigmentation of the oral cavity.","id":"HP:0012788","name":"Reticulate pigmentation of oral mucosa","obsolete":false,"parents":["HP:0100669"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mottled pigmentation of oral mucosa"},{"scope":"EXACT","text":"Reticulate pigmentation of oral mucous membrane"}]} +{"alt_ids":[],"definition":"Underdevelopment of the heel bone.","id":"HP:0012789","name":"Hypoplasia of the calcaneus","obsolete":false,"parents":["HP:0008363","HP:0008364"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic calcaneus"},{"scope":"EXACT","text":"Small heel bone"},{"scope":"EXACT","text":"Underdeveloped heel bone"}]} +{"alt_ids":[],"definition":"An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed.","id":"HP:0012790","name":"Abnormal intramembranous ossification","obsolete":false,"parents":["HP:0011849"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal intramembranous bone ossification"}]} +{"alt_ids":[],"definition":"An anomaly of the process of formation of bone in the humerus.","id":"HP:0012791","name":"Abnormal humeral ossification","obsolete":false,"parents":["HP:0003336","HP:0031095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal maturation of long bone in upper arm"}]} +{"alt_ids":[],"definition":"A lack of bone mineralization of one or more body of thoracic vertebra.","id":"HP:0012792","name":"Absent ossification of thoracic vertebral bodies","obsolete":false,"parents":["HP:0004599"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A kinked appearance of the brainstem, i.e., an exaggerated flexure.","id":"HP:0012793","name":"Kinked brainstem","obsolete":false,"parents":["HP:0002363"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Kinked brain stem"}]} +{"alt_ids":[],"definition":"Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.","id":"HP:0012794","name":"Periventricular white matter hypodensities","obsolete":false,"parents":["HP:0007103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Periventricular cerebral white matter hypodensities"}]} +{"alt_ids":[],"definition":"A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination.","id":"HP:0012795","name":"Abnormal optic disc morphology","obsolete":false,"parents":["HP:0000587"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells.","id":"HP:0012796","name":"Increased cup-to-disc ratio","obsolete":false,"parents":["HP:0012795"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated cup to disc ratio"},{"scope":"EXACT","text":"Elevated cup to disk ratio"},{"scope":"EXACT","text":"Increased cup disc ratio"},{"scope":"EXACT","text":"Increased cup disk ratio"},{"scope":"EXACT","text":"Optic cupping"}]} +{"alt_ids":[],"definition":"A benign or malignant neoplasm arising from the lymphatic vessels.","id":"HP:0012797","name":"Lymphatic vessel neoplasm","obsolete":false,"parents":["HP:0100742","HP:0100766"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lymphatic vessel tumor"},{"scope":"EXACT","text":"Lymphatic vessel tumour"}]} +{"alt_ids":[],"definition":"Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls.","id":"HP:0012798","name":"Pulmonary lymphangiomyomatosis","obsolete":false,"parents":["HP:0012797","HP:0100526"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Lymphangioleiomyomatosis"},{"scope":"EXACT","text":"Pulmonary myomatosis"}]} +{"alt_ids":[],"definition":"One-sided weakness of the muscles of facial expression and eye closure.","id":"HP:0012799","name":"Unilateral facial palsy","obsolete":false,"parents":["HP:0010628"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Facial droop"},{"scope":"EXACT","text":"Paralysis of one side of the face"},{"scope":"EXACT","text":"Unilateral facial muscle paralysis"},{"scope":"EXACT","text":"Unilateral facial muscle weakness"},{"scope":"EXACT","text":"Unilateral facial paralysis"},{"scope":"EXACT","text":"Unilateral facial weakness"},{"scope":"EXACT","text":"Weakness of one side of the face"}]} +{"alt_ids":[],"definition":"A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.","id":"HP:0012800","name":"Accessory cranial suture","obsolete":false,"parents":["HP:0011329"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extra cranial suture"},{"scope":"EXACT","text":"Supernumary cranial suture"}]} +{"alt_ids":[],"definition":"Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective).","id":"HP:0012801","name":"Narrow jaw","obsolete":false,"parents":["HP:0000277"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrow jaw"},{"scope":"EXACT","text":"Narrow lower face"},{"scope":"EXACT","text":"Narrow lower jaw"},{"scope":"EXACT","text":"Narrow mandible"},{"scope":"RELATED","text":"Thin lower face"},{"scope":"RELATED","text":"Thin lower jaw"}]} +{"alt_ids":[],"definition":"Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective).","id":"HP:0012802","name":"Broad jaw","obsolete":false,"parents":["HP:0000277"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad jaw"},{"scope":"EXACT","text":"Broad lower face"},{"scope":"EXACT","text":"Broad mandible"},{"scope":"EXACT","text":"Wide jaw"},{"scope":"EXACT","text":"Wide mandible"}]} +{"alt_ids":[],"definition":"Inequality of refractive power of the two eyes.","id":"HP:0012803","name":"Anisometropia","obsolete":false,"parents":["HP:0000539"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.","id":"HP:0012804","name":"Corneal ulceration","obsolete":false,"parents":["HP:0011495"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Corneal ulcer"},{"scope":"EXACT","text":"Corneal ulcerations"}]} +{"alt_ids":[],"definition":"Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.","id":"HP:0012805","name":"Iris transillumination defect","obsolete":false,"parents":["HP:0008034"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline.","id":"HP:0012806","name":"Proboscis","obsolete":false,"parents":["HP:0005105"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Insertion of the posterior columella superior to the nasal base.","id":"HP:0012807","name":"High insertion of columella","obsolete":false,"parents":["HP:0009929"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Ala lower than columella"},{"scope":"EXACT","text":"Columella, high insertion"}]} +{"alt_ids":[],"definition":"An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face.","id":"HP:0012808","name":"Abnormal nasal base norphology","obsolete":false,"parents":["HP:0005105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal nasal base"},{"scope":"EXACT","text":"Abnormality of base of nose"},{"scope":"EXACT","text":"Anomaly of base of nose"},{"scope":"EXACT","text":"Anomaly of nasal base"},{"scope":"NARROW","text":"Deformity of base of nose"},{"scope":"NARROW","text":"Deformity of nasal base"},{"scope":"NARROW","text":"Malformation of base of nose"},{"scope":"NARROW","text":"Malformation of nasal base"}]} +{"alt_ids":[],"definition":"Decreased distance between the attachments of the alae nasi to the face.","id":"HP:0012809","name":"Narrow nasal base","obsolete":false,"parents":["HP:0012808"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased width of base of nose"},{"scope":"EXACT","text":"Decreased width of nasal base"},{"scope":"EXACT","text":"Narrow base of nose"},{"scope":"EXACT","text":"Narrow nasal base"},{"scope":"EXACT","text":"Thin base of nose"},{"scope":"EXACT","text":"Thin nasal base"}]} +{"alt_ids":[],"definition":"Increased distance between the attachments of the alae nasi to the face.","id":"HP:0012810","name":"Wide nasal base","obsolete":false,"parents":["HP:0012808"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad base of nose"},{"scope":"EXACT","text":"Broad nasal base"},{"scope":"EXACT","text":"Increased width of base of nose"},{"scope":"EXACT","text":"Increased width of nasal base"},{"scope":"EXACT","text":"Wide base of nose"},{"scope":"EXACT","text":"Wide nasal base"}]} +{"alt_ids":[],"definition":"Increased width of the nasal ridge.","id":"HP:0012811","name":"Wide nasal ridge","obsolete":false,"parents":["HP:0011119"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad dorsum of nose"},{"scope":"EXACT","text":"Broad nasal dorsum"},{"scope":"RELATED","text":"Broad nasal ridge"},{"scope":"EXACT","text":"Increased width of dorsum of nose"},{"scope":"EXACT","text":"Increased width of nasal dorsum"},{"scope":"EXACT","text":"Increased width of nasal ridge"},{"scope":"EXACT","text":"Nasal ridge, wide"},{"scope":"EXACT","text":"Wide dorsum of nose"},{"scope":"EXACT","text":"Wide nasal dorsum"},{"scope":"EXACT","text":"Wide nasal ridge"}]} +{"alt_ids":[],"definition":"Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues.","id":"HP:0012812","name":"Fullness of paranasal tissue","obsolete":false,"parents":["HP:0005105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fullness of tissue around the nose"},{"scope":"NARROW","text":"Hyperplasia of paranasal tissue"},{"scope":"NARROW","text":"Hypertrophy of paranasal tissue"},{"scope":"EXACT","text":"Laterally built up nose"},{"scope":"EXACT","text":"Paranasal fullness"},{"scope":"EXACT","text":"Thick paranasal tissue"},{"scope":"EXACT","text":"Thick tissue around the nose"}]} +{"alt_ids":[],"definition":"Underdevelopment of the breast on one side only.","id":"HP:0012813","name":"Unilateral breast hypoplasia","obsolete":false,"parents":["HP:0003187"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"One underdeveloped breast"}]} +{"alt_ids":[],"definition":"Underdevelopment of the breast on both sides.","id":"HP:0012814","name":"Bilateral breast hypoplasia","obsolete":false,"parents":["HP:0003187"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Two underdeveloped breasts"}]} +{"alt_ids":[],"definition":"Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris).","id":"HP:0012815","name":"Hypoplastic female external genitalia","obsolete":false,"parents":["HP:0000055","HP:0003241"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Underdeveloped female external genitalia"}]} +{"alt_ids":[],"definition":"A predominantly right ventricular variant of isolated noncompaction cardiomyopathy.","id":"HP:0012816","name":"Right ventricular noncompaction cardiomyopathy","obsolete":false,"parents":["HP:0012817"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber.","id":"HP:0012817","name":"Noncompaction cardiomyopathy","obsolete":false,"parents":["HP:0001638"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Noncompaction of the ventricular myocardium"},{"scope":"EXACT","text":"Spongiform cardiomyopathy"}]} +{"alt_ids":[],"definition":"Noncompaction cardiomyopathy that affects both ventricles.","id":"HP:0012818","name":"Biventricular noncompaction cardiomyopathy","obsolete":false,"parents":["HP:0012817"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the myocardium.","id":"HP:0012819","name":"Myocarditis","obsolete":false,"parents":["HP:0001637"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inflammation of heart muscle"}]} +{"alt_ids":[],"definition":"A loss of the ability to move the vocal fold on both sides.","id":"HP:0012820","name":"Bilateral vocal cord paralysis","obsolete":false,"parents":["HP:0001605"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased strength of the vocal fold on one side.","id":"HP:0012821","name":"Unilateral vocal cord paresis","obsolete":false,"parents":["HP:0001604"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased strength of the vocal fold on both sides.","id":"HP:0012822","name":"Bilateral vocal cord paresis","obsolete":false,"parents":["HP:0001604"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0000004"],"definition":"This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects.","id":"HP:0012823","name":"Clinical modifier","obsolete":false,"parents":["HP:0000001"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Phenotypic modifier"}]} +{"alt_ids":[],"definition":"The intensity or degree of a manifestation.","id":"HP:0012824","name":"Severity","obsolete":false,"parents":["HP:0012823"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intensity"}]} +{"alt_ids":[],"definition":"Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean.","id":"HP:0012825","name":"Mild","obsolete":false,"parents":["HP:0012824"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mild"}]} +{"alt_ids":[],"definition":"Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean.","id":"HP:0012826","name":"Moderate","obsolete":false,"parents":["HP:0012824"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean.","id":"HP:0012827","name":"Borderline","obsolete":false,"parents":["HP:0012824"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Borderline"}]} +{"alt_ids":[],"definition":"Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean.","id":"HP:0012828","name":"Severe","obsolete":false,"parents":["HP:0012824"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Severe"}]} +{"alt_ids":[],"definition":"Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean.","id":"HP:0012829","name":"Profound","obsolete":false,"parents":["HP:0012824"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Profound"}]} +{"alt_ids":[],"definition":"The anatomical localization of the specified phenotypic abnormality.","id":"HP:0012830","name":"Position","obsolete":false,"parents":["HP:0012823"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The localization with respect to the side of the body of the specified phenotypic abnormality.","id":"HP:0012831","name":"Laterality","obsolete":false,"parents":["HP:0012830"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Being present on both sides of the body.","id":"HP:0012832","name":"Bilateral","obsolete":false,"parents":["HP:0012831"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Being present on only the left or only the right side of the body.","id":"HP:0012833","name":"Unilateral","obsolete":false,"parents":["HP:0012831"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Being located on the right side of the body.","id":"HP:0012834","name":"Right","obsolete":false,"parents":["HP:0012831"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Right-sided"}]} +{"alt_ids":[],"definition":"Being located on the left side of the body.","id":"HP:0012835","name":"Left","obsolete":false,"parents":["HP:0012831"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Left-sided"}]} +{"alt_ids":[],"definition":"The pattern by which a phenotype affects one or more regions of the body.","id":"HP:0012836","name":"Spatial pattern","obsolete":false,"parents":["HP:0012830"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Affecting all regions without specificity of distribution.","id":"HP:0012837","name":"Generalized","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised"}]} +{"alt_ids":[],"definition":"Being confined or restricted to a particular location.","id":"HP:0012838","name":"Localized","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Localised"},{"scope":"EXACT","text":"Localized"}]} +{"alt_ids":[],"definition":"Localized away from the central point of the body.","id":"HP:0012839","name":"Distal","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Outermost"}]} +{"alt_ids":[],"definition":"Localized close to the central point of the body.","id":"HP:0012840","name":"Proximal","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased number of twists and turns of the retinal blood vessels. This can affect either arteries, veins or both.","id":"HP:0012841","name":"Retinal vascular tortuosity","obsolete":false,"parents":["HP:0008046"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tortuous retinal vessels"}]} +{"alt_ids":[],"definition":"A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.","id":"HP:0012842","name":"Skin appendage neoplasm","obsolete":false,"parents":["HP:0008069","HP:0011138"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Skin adnexal neoplasm"},{"scope":"EXACT","text":"Skin adnexal tumor"},{"scope":"EXACT","text":"Skin adnexal tumour"}]} +{"alt_ids":[],"definition":"An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth.","id":"HP:0012843","name":"Hair follicle neoplasm","obsolete":false,"parents":["HP:0012842"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign tumor originating from the outer root sheath of the hair follicle.","id":"HP:0012844","name":"Trichilemmoma","obsolete":false,"parents":["HP:0012843"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tricholemmoma"}]} +{"alt_ids":[],"definition":"Presence of a unitary trichilemmoma, a benign tumor originating from the outer root sheath of the hair follicle.","id":"HP:0012845","name":"Single trichilemmoma","obsolete":false,"parents":["HP:0012844"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of multiple trichilemmomata, a benign tumor originating from the outer root sheath of the hair follicle.","id":"HP:0012846","name":"Multiple trichilemmomata","obsolete":false,"parents":["HP:0012844"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multiple trichilemmomas"}]} +{"alt_ids":[],"definition":"Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years).","id":"HP:0012847","name":"Epilepsia partialis continua","obsolete":false,"parents":["HP:0032663"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Epilepsia partialis continua of Kojevnikov"},{"scope":"EXACT","text":"Kojevnikov's epilepsia"},{"scope":"EXACT","text":"Kozhevnikov's epilepsia"}]} +{"alt_ids":[],"definition":"The narrowing or partial blockage of a portion of the small intestine.","id":"HP:0012848","name":"Small intestinal stenosis","obsolete":false,"parents":["HP:0002244"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrowing of small intestine"}]} +{"alt_ids":[],"definition":"Bleeding from the small intestine.","id":"HP:0012849","name":"Small intestinal bleeding","obsolete":false,"parents":["HP:0002244","HP:0002584"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small intestinal bleeding"},{"scope":"EXACT","text":"Small intestinal haemorrhage"},{"scope":"EXACT","text":"Small intestinal hemorrhage"}]} +{"alt_ids":[],"definition":"Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.","id":"HP:0012850","name":"Small intestinal dysmotility","obsolete":false,"parents":["HP:0002579"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A narrowing of a segment of colon whereby bowel continuity is maintained.","id":"HP:0012851","name":"Colonic stenosis","obsolete":false,"parents":["HP:0002250"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrowing of the colon"},{"scope":"EXACT","text":"Stenosis of the colon"}]} +{"alt_ids":[],"definition":"Hepatic fibrosis that reaches from a portal area to another portal area.","id":"HP:0012852","name":"Hepatic bridging fibrosis","obsolete":false,"parents":["HP:0001395"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hypospadias with location of the urethral meatus in the scrotum.","id":"HP:0012853","name":"Scrotal hypospadias","obsolete":false,"parents":["HP:0000047"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis.","id":"HP:0012854","name":"Midshaft hypospadias","obsolete":false,"parents":["HP:0003244"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased pigmentation (skin color) of the scrotum.","id":"HP:0012855","name":"Scrotal hyperpigmentation","obsolete":false,"parents":["HP:0000045"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperpigmentation of the scrotum"},{"scope":"EXACT","text":"Hyperpigmented scrotum"},{"scope":"EXACT","text":"Increased pigmentation in scrotum"}]} +{"alt_ids":[],"definition":"Anomaly of the folded ridges (wrinkles) of skin of the scrotum.","id":"HP:0012856","name":"Abnormal scrotal rugation","obsolete":false,"parents":["HP:0000045"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased number or density of the folded ridges (wrinkles) of skin of the scrotum.","id":"HP:0012857","name":"Increased scrotal rugation","obsolete":false,"parents":["HP:0012856"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum.","id":"HP:0012858","name":"Decreased scrotal rugation","obsolete":false,"parents":["HP:0012856"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease.","id":"HP:0012859","name":"Esophageal leukoplakia","obsolete":false,"parents":["HP:0002031"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Esophageal epidermoid metaplasia"}]} +{"alt_ids":[],"definition":"Formation of excess connective tissue in the testicle.","id":"HP:0012860","name":"Testicular fibrosis","obsolete":false,"parents":["HP:0000035"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fibrotic testes"},{"scope":"EXACT","text":"Fibrotic testicle"}]} +{"alt_ids":[],"definition":"A gonad that contains both ovarian follicles and testicular tubular elements.","id":"HP:0012861","name":"Ovotestis","obsolete":false,"parents":["HP:0000062"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of a reproductive cell.","id":"HP:0012862","name":"Abnormal germ cell morphology","obsolete":false,"parents":["HP:0012243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of a reproductive cell"},{"scope":"EXACT","text":"Abnormally shaped germ cell"},{"scope":"EXACT","text":"Abnormally shaped reproductive cell"}]} +{"alt_ids":[],"definition":"A structural anomaly of a male reproductive cell.","id":"HP:0012863","name":"Abnormal male germ cell morphology","obsolete":false,"parents":["HP:0012862"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of sperm.","id":"HP:0012864","name":"Abnormal sperm morphology","obsolete":false,"parents":["HP:0012863"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of sperm"},{"scope":"EXACT","text":"Teratospermia"},{"scope":"EXACT","text":"Teratozoospermia"}]} +{"alt_ids":[],"definition":"A structural abnormality of the sperm head.","id":"HP:0012865","name":"Abnormal sperm head morphology","obsolete":false,"parents":["HP:0012864"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sperm head anomaly"}]} +{"alt_ids":[],"definition":"A structural abnormality of the sperm neck.","id":"HP:0012866","name":"Abnormal sperm neck morphology","obsolete":false,"parents":["HP:0012864"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sperm neck anomaly"}]} +{"alt_ids":[],"definition":"A structural abnormality of the sperm mid-piece.","id":"HP:0012867","name":"Abnormal sperm mid-piece morphology","obsolete":false,"parents":["HP:0012864"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sperm mid-piece anomaly"}]} +{"alt_ids":[],"definition":"A structural abnormality of the sperm tail.","id":"HP:0012868","name":"Abnormal sperm tail morphology","obsolete":false,"parents":["HP:0012864"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sperm tail anomaly"}]} +{"alt_ids":[],"definition":"Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head.","id":"HP:0012869","name":"Acephalic spermatozoa","obsolete":false,"parents":["HP:0012865"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction.","id":"HP:0012870","name":"Vanishing testis","obsolete":false,"parents":["HP:0000035"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Testicular regression syndrome"},{"scope":"EXACT","text":"Vanishing testis"}]} +{"alt_ids":[],"definition":"A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum.","id":"HP:0012871","name":"Varicocele","obsolete":false,"parents":["HP:0000045"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vaginal varicocele"}]} +{"alt_ids":[],"definition":"A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct.","id":"HP:0012872","name":"Abnormal vas deferens morphology","obsolete":false,"parents":["HP:0000022"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Aplasia (congenital absence) of the vas deferens.","id":"HP:0012873","name":"Absent vas deferens","obsolete":false,"parents":["HP:0012872"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent deferent duct"},{"scope":"EXACT","text":"Absent ductus deferens"},{"scope":"EXACT","text":"Congenital absence of the vas deferens"}]} +{"alt_ids":[],"definition":"An abnormal functionality of the male genital system.","id":"HP:0012874","name":"Abnormal male reproductive system physiology","obsolete":false,"parents":["HP:0000080"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormal male genital system physiology"}]} +{"alt_ids":[],"definition":"Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract.","id":"HP:0012875","name":"Abnormal ejaculation","obsolete":false,"parents":["HP:0012874"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration.","id":"HP:0012876","name":"Premature ejaculation","obsolete":false,"parents":["HP:0012875"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Premature ejaculation"}]} +{"alt_ids":[],"definition":"The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm.","id":"HP:0012877","name":"Retrograde ejaculation","obsolete":false,"parents":["HP:0012875"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Difficulty of a male in achieving orgasm.","id":"HP:0012878","name":"Retarded ejaculation","obsolete":false,"parents":["HP:0012875"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delayed ejaculation"}]} +{"alt_ids":[],"definition":"Inability to ejaculate.","id":"HP:0012879","name":"Anejaculation","obsolete":false,"parents":["HP:0012875"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ejaculatory incompetence"}]} +{"alt_ids":[],"definition":"An anomaly of the labia minora, the folds of skin between the outer labia.","id":"HP:0012880","name":"Abnormal labia minora morphology","obsolete":false,"parents":["HP:0000058"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the inner vaginal lips"},{"scope":"EXACT","text":"Abnormality of the labia minora"}]} +{"alt_ids":[],"definition":"An anomaly of the outer labia.","id":"HP:0012881","name":"Abnormal labia majora morphology","obsolete":false,"parents":["HP:0000058"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the labia majora"},{"scope":"EXACT","text":"Abnormality of vaginal lips"}]} +{"alt_ids":[],"definition":"Overgrowth of the outer labia.","id":"HP:0012882","name":"Hyperplastic labia majora","obsolete":false,"parents":["HP:0012881"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged labia majora"},{"scope":"EXACT","text":"Hyperplasia of labia majora"}]} +{"alt_ids":[],"definition":"A fluid filled sac located in the Fallopian tube.","id":"HP:0012883","name":"Fallopian tube cyst","obsolete":false,"parents":["HP:0011027"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation.","id":"HP:0012884","name":"Fallopian tube torsion","obsolete":false,"parents":["HP:0011027"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Twisted fallopian tube"}]} +{"alt_ids":[],"definition":"The presence of a supernumerary Fallopian tube.","id":"HP:0012885","name":"Fallopian tube duplication","obsolete":false,"parents":["HP:0011027"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Accessory fallopian tube"}]} +{"alt_ids":[],"definition":"An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst.","id":"HP:0012886","name":"Hemorrhagic ovarian cyst","obsolete":false,"parents":["HP:0000138"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue.","id":"HP:0012887","name":"Ovarian serous cystadenoma","obsolete":false,"parents":["HP:0000138"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Serous ovarian cyst"}]} +{"alt_ids":[],"definition":"An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.","id":"HP:0012888","name":"Abnormal uterine cervix morphology","obsolete":false,"parents":["HP:0000130"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the uterine cervix"}]} +{"alt_ids":[],"definition":"Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix.","id":"HP:0012889","name":"Cervical endometriosis","obsolete":false,"parents":["HP:0012888","HP:0030127"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Posterior malposition of the anus.","id":"HP:0012890","name":"Posteriorly placed anus","obsolete":false,"parents":["HP:0004397"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hair on the neck extends less inferiorly than usual.","id":"HP:0012891","name":"High posterior hairline","obsolete":false,"parents":["HP:0030141"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High hairline at back of head"}]} +{"alt_ids":[],"definition":"Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve).","id":"HP:0012892","name":"Facial muscle hypertrophy","obsolete":false,"parents":["HP:0000301","HP:0003712"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Hyperplasia of facial muscles"},{"scope":"EXACT","text":"Increased size of facial muscles"},{"scope":"EXACT","text":"Large facial muscles"}]} +{"alt_ids":[],"definition":"Muscle hypertrophy affecting the muscles of the neck.","id":"HP:0012893","name":"Neck muscle hypertrophy","obsolete":false,"parents":["HP:0003712","HP:0011006"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Hyperplasia of neck muscles"},{"scope":"EXACT","text":"Hypertrophy of cervical muscles"},{"scope":"BROAD","text":"Increased size of neck muscles"},{"scope":"EXACT","text":"Large neck muscles"},{"scope":"EXACT","text":"Overgrowth of neck muscles"}]} +{"alt_ids":[],"definition":"Muscle hypertrophy affecting the paraspinal muscles.","id":"HP:0012894","name":"Paraspinal muscle hypertrophy","obsolete":false,"parents":["HP:0003712"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Muscle hypertrophy affecting the scapular muscles.","id":"HP:0012895","name":"Scapular muscle hypertrophy","obsolete":false,"parents":["HP:0003712"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways.","id":"HP:0012896","name":"Abnormal motor evoked potentials","obsolete":false,"parents":["HP:0430106"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly identified by motor evoked potentials (MEPs) in the arm.","id":"HP:0012897","name":"Abnormal upper-limb motor evoked potentials","obsolete":false,"parents":["HP:0012896"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal motor evoked potentials in the upper limb"}]} +{"alt_ids":[],"definition":"An anomaly identified by motor evoked potentials (MEPs) in the leg.","id":"HP:0012898","name":"Abnormal lower-limb motor evoked potentials","obsolete":false,"parents":["HP:0012896"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal motor evoked potentials in the lower limb"}]} +{"alt_ids":[],"definition":"Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.","id":"HP:0012899","name":"Handgrip myotonia","obsolete":false,"parents":["HP:0002486"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Grip myotonia"}]} +{"alt_ids":[],"definition":"Slowed relaxation of muscles in the face.","id":"HP:0012900","name":"Myotonia of the face","obsolete":false,"parents":["HP:0002486"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Slowed relaxation of muscles in the jaw.","id":"HP:0012901","name":"Myotonia of the jaw","obsolete":false,"parents":["HP:0002486"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Slowed relaxation of muscles in the leg.","id":"HP:0012902","name":"Myotonia of the lower limb","obsolete":false,"parents":["HP:0002486"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Slowed relaxation of muscles in the arm.","id":"HP:0012903","name":"Myotonia of the upper limb","obsolete":false,"parents":["HP:0002486"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold.","id":"HP:0012904","name":"Cold-sensitive myotonia","obsolete":false,"parents":["HP:0002486"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening.","id":"HP:0012905","name":"Euryblepharon","obsolete":false,"parents":["HP:0000492"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Kabuki syndrome eyelids"}]} +{"alt_ids":[],"definition":"Congenital anophthalmos is a rare ocular anomaly in which histologically detectable eyeball structures are absent due to poor development of the primary optic nerve vesicle. However, with appropriate imaging or intraoperatively, rudimentary remains of this structure can usually be detected. Therefore, the term clinical congenital anophthalmos seems more appropriate and denotes a phenotypic range between microphthalmos and anophthalmos.","id":"HP:0020001","name":"Clinical anophthalmos","obsolete":false,"parents":["HP:0000528"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A pathological narrowing of the ileum that is caused by the development of a ring of scar tissue that constricts the ileal lumen.","id":"HP:0020002","name":"Ileal stricture","obsolete":false,"parents":["HP:0001549"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A failure of an embryo to progress through the early stages of preimplantation development (typically from fertilization, i.e., 1-cell zygote, to blastocyst on day 5-6), and is used clinically when embryos fail to reach transferable stages in assisted reproductive technologies (ARTs) such in vitro fertilization (IVF). Arrested embryo development is characterized by downregulation of metabolic activity and cessation of cell division. In order for an embryo to be characterized as non-viable, i.e., arrested, it should present with a lack of cleaving activity and fail to show a sign of mitotic cellular division for at least 24 hours. One can observe failure of a zygote to cleave, cleavage stage arrest either on day 2 or day 3 when the embryo is expected to be between the 2 and 8-cell stage, failure to compact to morula, or failure to form a blastocyst.","id":"HP:0020003","name":"Embryo developmental arrest","obsolete":false,"parents":["HP:0033335"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of guanidinoacetic acid in the cerebrospinal fluid (CSF) is outside the limits of normal.","id":"HP:0020004","name":"Abnormal CSF guanidinoacetic acid concentration","obsolete":false,"parents":["HP:0500184"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of guanidinoacetic acid in the cerebrospinal fluid (CSF) is below the lower limit of normal.","id":"HP:0020005","name":"Decreased CSF guanidinoacetic acid concentration","obsolete":false,"parents":["HP:0020004"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low CSF guanidinoacetic acid concentration"},{"scope":"EXACT","text":"Reduced CSF GAA concentration"}]} +{"alt_ids":[],"definition":"A coloboma of the ciliary body.","id":"HP:0020006","name":"Ciliary body coloboma","obsolete":false,"parents":["HP:0000589"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A disturbance in the processes by which emotional responses are initiated, modulated, sustained, or terminated in a contextually appropriate manner. Abnormal affect regulation involves maladaptive patterns in the generation, intensity, or control of affective experience and expression, leading to inconsistent, excessive, or insufficient modulation of emotion relative to situational demands.","id":"HP:0020007","name":"Abnormal affect regulation","obsolete":false,"parents":["HP:0025766"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The initial manifestation of a disease or symptom occurring during the winter season.","id":"HP:0020008","name":"History of disease onset in winter","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The initial manifestation of a disease or symptom occurring during the summer season.","id":"HP:0020009","name":"History of disease onset in summer","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A description of structural or physical characteristics of a skin lesion, describing how the lesion appears or is composed.","id":"HP:0020010","name":"Cutaneous lesion morphology","obsolete":false,"parents":["HP:0012823"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of bleeding within (pre-existing) cutaneous lesions such as blisters or vesicles, resulting in blood-filled lesions.","id":"HP:0020011","name":"Bleeding into skin lesions","obsolete":false,"parents":["HP:0020010"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hemorrhagic nature to skin lesions"}]} +{"alt_ids":[],"definition":"Lesions covered by a hardened layer of dried exudate, blood, or serum.","id":"HP:0020012","name":"Crusted skin lesions","obsolete":false,"parents":["HP:0020010"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Slough is a type of necrotic skin lesion that is characterized as being yellow, tan, green or brown in color and may be moist, loose and stringy in appearance.","id":"HP:0020013","name":"Slough","obsolete":false,"parents":["HP:0033126"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal tingling, burning, or itching sensation localized to the site of an animal bite, typically occurring after the wound has healed.","id":"HP:0020014","name":"Local paresthesia at bite site","obsolete":false,"parents":["HP:0003401"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Amyloid deposition categorized according to the anatomical site of deposition.","id":"HP:0020015","name":"Amyloid deposition by anatomical site","obsolete":false,"parents":["HP:0011034"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Amyloid deposition categorized according to the category of pathological amyloid fiber being deposited.","id":"HP:0020016","name":"Amyloid deposition by type of amyloid","obsolete":false,"parents":["HP:0011034"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deposition of misfolded transthyretin (TTR) protein in tissue.","id":"HP:0020017","name":"Transthyretin amyloid deposition","obsolete":false,"parents":["HP:0020016"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of misfolded transthyretin protein in brain tissue.","id":"HP:0020018","name":"Cerebral transthyretin amyloid deposition","obsolete":false,"parents":["HP:0020017"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of 5-hydroxyindoleacetic acid in the cerebrospinal fluid (CSF) is above or below the limits of normal.","id":"HP:0020019","name":"Abnormal CSF 5-hydroxyindoleacetic acid concentration","obsolete":false,"parents":["HP:0500183"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of 5-hydroxyindoleacetic acid in the cerebrospinal fluid (CSF) is below the lower limit of normal.","id":"HP:0020020","name":"Decreased CSF 5-hydroxyindoleacetic acid concentration","obsolete":false,"parents":["HP:0020019"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A condition where the hip joint is limited in its range of motion due to the shortening of muscles that externally rotate the hip, causing the leg and foot to point outward when standing or walking. The knee is turned past neutral in the direction moving away from the midline, where the neutral position for the hip is with knee pointing directly anteriorly.","id":"HP:0020021","name":"Hip external rotation contracture","obsolete":false,"parents":["HP:0003273"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abduction contracture of the hip is characterized by the limitation of active and/or passive adduction of the hip joint in the coronal plane; a chronic reduction in the ability to move the proximal segment of the lower extremity actively or passively medially towards the body midline past the sagittal plane of the body.","id":"HP:0020022","name":"Hip abduction contracture","obsolete":false,"parents":["HP:0003273"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inability of hip to bring from medial side to neutral position, where the neutral position for the hip is with the thigh segment in line with the anatomic plane of the pelvis, both in the coronal and sagittal planes.","id":"HP:0020023","name":"Hip adduction contracture","obsolete":false,"parents":["HP:0003273"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inability to flex the hip past the extension range from the neutral position, where the neutral position for the hip is with the hip and thigh segment in line in the same coronal plane as the pelvis.","id":"HP:0020024","name":"Hip extension contracture","obsolete":false,"parents":["HP:0003273"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The inability to bring a flexed hip to neutral in the sagittal plane, where the neutral position for the hip is with the thigh segment in line with the anatomic plane of the pelvis, both in the coronal and sagittal planes.","id":"HP:0020025","name":"Hip flexion contracture","obsolete":false,"parents":["HP:0003273"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A positive (abnormal) result of the direct antiglobulin test (DAT; sometimes referred to as the Coombs test). The test is a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction. The DAT tests for antibodies or complement bound directly to erythrocytes, indicating in vivo sensitization.","id":"HP:0020026","name":"Positive Coombs test","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Demonstration of the presence of IgG antibodies bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction.","id":"HP:0020027","name":"Direct antiglobulin test positive for IgG","obsolete":false,"parents":["HP:0020026"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"IgG+ Coombs test"}]} +{"alt_ids":[],"definition":"Demonstration of the presence of IgM antibodies bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction.","id":"HP:0020028","name":"Direct antiglobulin test positive for IgM","obsolete":false,"parents":["HP:0020026"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"IgM+ Coombs test"}]} +{"alt_ids":[],"definition":"Any structural abnormality affecting the white matter of the spinal cord, including sensory tracts (dorsal columns) and motor tracts (corticospinal tracts). Abnormalities may involve myelin, axons, or tract organization and can result in sensory, motor, or autonomic deficits.","id":"HP:0020029","name":"Abnormal spinal cord white matter morphology","obsolete":false,"parents":["HP:0002143"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural abnormality affecting the lateral corticospinal tracts of the spinal cord, which may involve axonal loss, demyelination, or tract degeneration, and can result in motor deficits such as weakness, spasticity, or impaired voluntary movement.","id":"HP:0020030","name":"Abnormal spinal cord lateral corticospinal tract morphology","obsolete":false,"parents":["HP:0020029"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Demonstration of the presence of C3d complement fragments bound to red blood cell (RBC) membranes using anti-human globulin (Coombs reagent), which produces a visible agglutination reaction.","id":"HP:0020031","name":"Direct antiglobulin test positive for C3d","obsolete":false,"parents":["HP:0020026"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal hyperreflective dots (HRDs) detected in Optical coherence tomography (OCT) scans. The HRDs are scattered, punctiform, small in size, mainly located in the outer retinal layers and/or around pockets of fluid accumulation and are typically not confluent.","id":"HP:0020032","name":"Hyperreflective retinal dots on OCT","obsolete":false,"parents":["HP:0030612"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperreflective retinal foci on OCT"}]} +{"alt_ids":[],"definition":"Lack of uniformity in the morphology of the retinal pigment epithelium (RPE) layer observed on optical coherence tomography (OCT) imaging. The RPE lies between the neurosensory retina (photoreceptors) and Bruch membrane/choroid, and normally appears as a thin, hyperreflective (bright) band on OCT imaging. This term comprises irregularities which may manifest as thickening, thinning, undulations, or loss of normal reflectivity, potentially affecting retinal structure or function.","id":"HP:0020033","name":"Irregularity of the retinal pigment epithelium layer on OCT","obsolete":false,"parents":["HP:0030603"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A spatial pattern that is spread out, i.e., not localized.","id":"HP:0020034","name":"Diffuse","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg.","id":"HP:0020035","name":"Lower limb dysmetria","obsolete":false,"parents":["HP:0002406"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm.","id":"HP:0020036","name":"Upper limb dysmetria","obsolete":false,"parents":["HP:0002406"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength.","id":"HP:0020037","name":"Astasia","obsolete":false,"parents":["HP:0100022"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm.","id":"HP:0020038","name":"Vertebrobasilar dolichoectasia","obsolete":false,"parents":["HP:0030321"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anteroposterior thickness of the retina above the upper limit of normal. This phenotype can be appreciated by retinal optical coherence tomography (OCT).","id":"HP:0020039","name":"Retinal thickening on OCT","obsolete":false,"parents":["HP:0020040"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anteroposterior thickness of the retina outside the limits of normal. This phenotype can be appreciated by retinal optical coherence tomography (OCT).","id":"HP:0020040","name":"Abnormal anteroposterior retina thickness on OCT","obsolete":false,"parents":["HP:0030603"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia.","id":"HP:0020041","name":"Double elevator palsy","obsolete":false,"parents":["HP:0025068"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An ocular movement abnormality characterized by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye.","id":"HP:0020042","name":"Double depressor palsy","obsolete":false,"parents":["HP:0025068"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards.","id":"HP:0020043","name":"Vertical incomitant strabismus","obsolete":false,"parents":["HP:0025068"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0020044","name":"Horizontal incomitant strabismus","obsolete":false,"parents":["HP:0025068"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally.","id":"HP:0020045","name":"Esodeviation","obsolete":false,"parents":["HP:0000486"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Convergent squint"},{"scope":"EXACT","text":"Convergent strabismus"}]} +{"alt_ids":[],"definition":"A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex.","id":"HP:0020046","name":"Accommodative esotropia","obsolete":false,"parents":["HP:0000565"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.","id":"HP:0020047","name":"Abnormal myeloid cell morphology","obsolete":false,"parents":["HP:0005561"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19.","id":"HP:0020048","name":"Reduced bone-marrow pro-B cell count","obsolete":false,"parents":["HP:0005561"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally.","id":"HP:0020049","name":"Exodeviation","obsolete":false,"parents":["HP:0000486"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Divergent strabismus"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor.","id":"HP:0020050","name":"Anti-granulocyte-macrophage colony stimulating factor antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-GM-CSF antibody positivity"}]} +{"alt_ids":[],"definition":"Any anomaly in the structure or density (count of tubules per volume) of the seminiferous tubules, i.e., the coiled structures within the testis that contain Sertoli cells, which support and nurture germ cells as they develop into mature spermatozoa.","id":"HP:0020051","name":"Abnormal seminiferous tubule morphology","obsolete":false,"parents":["HP:0000035"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A granuloma located within a lymph node that is associated with necrosis. Usually, the necrosis is surrounded by collections of histiocytes. A granuloma is a focal aggregate of immune cells that forms in response to a persistent inflammatory stimulus. It characteristically demonstrates the compact organization of mature macrophages, which may or may not be associated with other inflammatory cell types.","id":"HP:0020052","name":"Necrotizing lymph node granuloma","obsolete":false,"parents":["HP:0020229"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Aberrant marker expression is a phenomenon of abnormal gain or loss of lineage specific or associated antigens. It involves changes in the presence, absence, quantity, or localization of molecular or immunohistochemical markers.","id":"HP:0020053","name":"Abnormal marker expression","obsolete":false,"parents":["HP:0020228"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any functional abnormality of erythrocytes (red-blood cells).","id":"HP:0020054","name":"Abnormal erythrocyte physiology","obsolete":false,"parents":["HP:0001871"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Immunohistochemistry (IHC) demonstrating loss of expression of the mismatch repair gene product mutL homolog 1 (MLH1).","id":"HP:0020055","name":"Diminished MLH1 expression","obsolete":false,"parents":["HP:0020053"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Immunohistochemistry (IHC) demonstrating loss of expression of the mismatch repair gene product mutS homolog 2 (MSH2).","id":"HP:0020056","name":"Diminished MSH2 expression","obsolete":false,"parents":["HP:0020053"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Immunohistochemistry (IHC) demonstrating loss of expression of the mismatch repair gene product mutS homolog 6 (MSH6).","id":"HP:0020057","name":"Diminished MSH6 expression","obsolete":false,"parents":["HP:0020053"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal number of red blood cells per volume in the circulation.","id":"HP:0020058","name":"Abnormal red blood cell count","obsolete":false,"parents":["HP:0001877"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal RBC count"}]} +{"alt_ids":[],"definition":"An abnormal elevation above the normal number of red blood cells per volume in the circulation.","id":"HP:0020059","name":"Increased red blood cell count","obsolete":false,"parents":["HP:0020058"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased RBC count"}]} +{"alt_ids":[],"definition":"An abnormal reduction below the normal number of red blood cells per volume in the circulation.","id":"HP:0020060","name":"Decreased red blood cell count","obsolete":false,"parents":["HP:0020058"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased RBC count"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of hemoglobin in the blood.","id":"HP:0020061","name":"Abnormal hemoglobin concentration","obsolete":false,"parents":["HP:0001877"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal Hb concentration"},{"scope":"EXACT","text":"Abnormal haemoglobin concentration"}]} +{"alt_ids":[],"definition":"An abnormal reduction below normal hemoglobin concentration in the circulation.","id":"HP:0020062","name":"Decreased hemoglobin concentration","obsolete":false,"parents":["HP:0020061"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased Hb concentration"},{"scope":"EXACT","text":"Decreased haemoglobin concentration"}]} +{"alt_ids":[],"definition":null,"id":"HP:0020063","name":"obsolete Increased hemoglobin concentration","obsolete":true,"parents":[],"replaced_by":["HP:0001900"],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase or decrease of absolute number of eosinophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.","id":"HP:0020064","name":"Abnormal total eosinophil count","obsolete":false,"parents":["HP:0001879","HP:0032309"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Immunohistochemistry (IHC) demonstrating loss of expression of the mismatch repair gene product PMS1 homolog 2 (PMS2).","id":"HP:0020065","name":"Diminished PMS2 expression","obsolete":false,"parents":["HP:0020053"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0020066","name":"Pathological inclusion body by subcellular location","obsolete":false,"parents":["HP:6001025"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0020067","name":"Pathological inclusion body by anatomical location","obsolete":false,"parents":["HP:6001025"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inclusion bodies (deposits of stainable material, usually misfolded proteins) localized in the nucleus.","id":"HP:0020068","name":"Intranuclear inclusion bodies","obsolete":false,"parents":["HP:0020066"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a lesion that is localized on the arm or leg.","id":"HP:0020069","name":"Appendicular location","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Skin lesions on limbs"}]} +{"alt_ids":[],"definition":"A history of living in an environment characterized by excess moisture and heat, tropical conditions, or muggy weather.","id":"HP:0020070","name":"Exposure to humid conditions","obsolete":false,"parents":["HP:4000110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of virus in the blood.","id":"HP:0020071","name":"Viremia","obsolete":false,"parents":["HP:0031863"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Persistent or recurrent detection of Epstein-Barr virus (EBV) in the blood that occurs in the context of unusual susceptibility to infection.","id":"HP:0020072","name":"Persistent EBV viremia","obsolete":false,"parents":["HP:0032248","HP:5210286"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic EBV viremia"},{"scope":"EXACT","text":"Persistent EBV viraemia"},{"scope":"EXACT","text":"Recurrent EBV viremia"}]} +{"alt_ids":[],"definition":"A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation.","id":"HP:0020073","name":"Hypopigmented macule","obsolete":false,"parents":["HP:0012733"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of crystals in the urine.","id":"HP:0020074","name":"Crystalluria","obsolete":false,"parents":["HP:0003110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of leucine crystals in the urine.","id":"HP:0020075","name":"Leucine crystalluria","obsolete":false,"parents":["HP:0020074"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule.","id":"HP:0020076","name":"Wrist ganglion","obsolete":false,"parents":["HP:0025798"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ganglion cyst of the wrist"}]} +{"alt_ids":[],"definition":"An elevated level of carnitine in the urine.","id":"HP:0020077","name":"Carnitinuria","obsolete":false,"parents":["HP:0031980"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Carnitine high in urine"}]} +{"alt_ids":[],"definition":"An increased level of alanine in the urine.","id":"HP:0020078","name":"Alaninuria","obsolete":false,"parents":["HP:0033100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased urinary alanine"}]} +{"alt_ids":["HP:6000276"],"definition":"The amount of beta-alanine in the urine, when normalized for urine concentration, is above the upper limit of normal.","id":"HP:0020079","name":"Beta-alaninuria","obsolete":false,"parents":["HP:0033098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Beta-alanine high in urine"},{"scope":"EXACT","text":"Elevated urinary beta-alanine level"},{"scope":"EXACT","text":"Hyper-beta-alaninuria"}]} +{"alt_ids":[],"definition":"Nuclear or cytoplasmic aggregates of substances in red blood cells.","id":"HP:0020080","name":"Erythrocyte inclusion bodies","obsolete":false,"parents":["HP:0001877"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain).","id":"HP:0020081","name":"Pappenheimer bodies","obsolete":false,"parents":["HP:0020080"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of erythrocyte inclusion composed of denatured hemoglobin.","id":"HP:0020082","name":"Heinz bodies","obsolete":false,"parents":["HP:0020080"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An infection of a hair follicle that extends subcutaneously, forming an abscess.","id":"HP:0020083","name":"Furuncle","obsolete":false,"parents":["HP:0025084"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Boil"}]} +{"alt_ids":[],"definition":"A pustular lesion of the skin emerging from group of infected hair follicles, characterized by a deep location and dissecting through tissue planes. A carbuncle is larger and deeper than a furuncle.","id":"HP:0020084","name":"Carbuncle","obsolete":false,"parents":["HP:0025084"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens.","id":"HP:0020085","name":"Infection following live vaccination","obsolete":false,"parents":["HP:0032101"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.","id":"HP:0020086","name":"BCGitis","obsolete":false,"parents":["HP:5210408"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0031698"],"definition":"Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis.","id":"HP:0020087","name":"BCGosis","obsolete":false,"parents":["HP:5210408"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"BCGiosis"},{"scope":"EXACT","text":"Disseminated Bacillus Calmette-Guerin infection"}]} +{"alt_ids":[],"definition":"Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases.","id":"HP:0020088","name":"Post-vaccination measles","obsolete":false,"parents":["HP:0020085"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vaccine associated measles"}]} +{"alt_ids":[],"definition":"Infection with the rubella virus of the live-attenuated vaccine.","id":"HP:0020089","name":"Post-vaccination rubella","obsolete":false,"parents":["HP:0020085"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Infection with live attenuated polio vaccine following vaccination. This is an extremely rare event that may indicate immunocompromise.","id":"HP:0020090","name":"Post-vaccination polio","obsolete":false,"parents":["HP:0020085"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Infection with live attenuated rotavirus vaccine following vaccination.","id":"HP:0020091","name":"Post-vaccination rotavirus infection","obsolete":false,"parents":["HP:0020085"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any microscopic alteration in the cellular or tissue morphology of a biospecimen, identified through histologic examination, including changes in differentiation, organization, or cytologic features.","id":"HP:0020092","name":"Histopathological abnormality","obsolete":false,"parents":["HP:0020228"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ.","id":"HP:0020093","name":"Recurrent deep organ abscess formation","obsolete":false,"parents":["HP:0032169"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Metaplasia of an epithelium (normally a unilayer of cuboidal or columnar cells) with squamous epithelium (squamous means scale-like). Metaplastic squamous epithelium becomes stratified (i.e., has multiple layers).","id":"HP:0020094","name":"Squamous metaplasia","obsolete":false,"parents":["HP:0020092"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The requirement for prolonged antibiotic treatment beyond what would be expected for a given infection in a healthy individual of the same age, suggesting unusual susceptibility to infection or failure to respond to standard therapy.","id":"HP:0020095","name":"Prolonged need of intravenous antibiotic therapy","obsolete":false,"parents":["HP:0032169"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to streptococcal infections as manifested by recurrent episodes of streptococcal infections.","id":"HP:0020096","name":"Recurrent streptococcal infections","obsolete":false,"parents":["HP:0002718"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to infections with encapsulated bacteria, as manifested by recurrent or severe/invasive infection with encapsulated bacterial organisms such as Streptococcus pneumoniae, Haemophilus influenzae type b, or Neisseria meningitidis.","id":"HP:0020097","name":"Infection due to encapsulated bacteria","obsolete":false,"parents":["HP:5210000"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0020098","name":"obsolete Herpes encephalitis","obsolete":true,"parents":[],"replaced_by":["HP:0012302"],"synonyms":[]} +{"alt_ids":[],"definition":"An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals.","id":"HP:0020099","name":"Severe norovirus infection","obsolete":false,"parents":["HP:0031691","HP:5210310"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated norovirus infection"}]} +{"alt_ids":[],"definition":"An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent.","id":"HP:0020100","name":"Unusual fungal infection","obsolete":false,"parents":["HP:0032101"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fungal infection characterized by invasion of host tissues.","id":"HP:0020101","name":"Invasive fungal infection","obsolete":false,"parents":["HP:0020100"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0034286"],"definition":"An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing.","id":"HP:0020102","name":"Pneumocystis jirovecii pneumonia","obsolete":false,"parents":["HP:0032255"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pneumocystis carinii pneumonia"}]} +{"alt_ids":[],"definition":"Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis.","id":"HP:0020103","name":"Invasive pulmonary aspergillosis","obsolete":false,"parents":["HP:0020101"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent.","id":"HP:0020104","name":"Unusual protozoan infection","obsolete":false,"parents":["HP:0032101"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs).","id":"HP:0020105","name":"Severe Toxoplasma infection","obsolete":false,"parents":["HP:5210127"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated toxoplasmosis"},{"scope":"EXACT","text":"Invasive toxoplasmosis"},{"scope":"EXACT","text":"Severe toxoplasmosis"}]} +{"alt_ids":[],"definition":"An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide.","id":"HP:0020106","name":"Severe giardiasis","obsolete":false,"parents":["HP:0020104"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth).","id":"HP:0020107","name":"Unusual helminthic infection","obsolete":false,"parents":["HP:0032101"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite.","id":"HP:0020108","name":"Unusual parasitic infection","obsolete":false,"parents":["HP:0032101"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Glomerular basement membrane duplication (GBM-DP) can be seen with Periodic acid-Schiff and silver stains. This appearance results from the presence of subendothelial deposits and the so-called mesangial interposition whereby mesangial cells, infiltrating mononuclear cells, or even portions of endothelial cells interpose themselves between the endothelium and basement membrane, with new, inner GBM-like material being laid down. This produces a double contour or tram-track appearance on light or electron microscopy. This finding often reflects splitting of the lamina densa and is associated with disease processes such as membranoproliferative glomerulonephritis, transplant glomerulopathy, and diabetic nephropathy.","id":"HP:0020109","name":"Glomerular basement membrane duplication","obsolete":false,"parents":["HP:0033282"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Double contour of glomerular basement membrane"},{"scope":"EXACT","text":"GBM duplication"},{"scope":"EXACT","text":"GBM reduplication"},{"scope":"EXACT","text":"Tram-track appearance of GBM"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the continuity of a bone.","id":"HP:0020110","name":"Bone fracture","obsolete":false,"parents":["HP:0011842"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0030334","HP:0030335"],"definition":"Abnormal increase or decrease of the regulatory (Treg) CD4+ T cell subpopulation, commonly characterized by the CD127lowCD25hi phenotype, with the optional additional positivity for FoxP3, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group.","id":"HP:0020111","name":"Abnormal regulatory T cell proportion","obsolete":false,"parents":["HP:0031392"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal CD4+CD25+ Treg cell proportion"},{"scope":"EXACT","text":"Abnormal CD4+CD25+ regulatory T cell proportion"},{"scope":"RELATED","text":"Abnormal CD4-positive, CD25-positive regulatory T cell count"},{"scope":"EXACT","text":"Abnormal Treg proportion"},{"scope":"EXACT","text":"Abnormal proportion of regulatory T cells"}]} +{"alt_ids":["HP:0030337"],"definition":"Abnormal increase of the regulatory (Treg) CD4+ T cell subpopulation, commonly characterized by the CD127lowCD25hi phenotype, with the optional additional positivity for FoxP3, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group.","id":"HP:0020112","name":"Increased regulatory T cell proportion","obsolete":false,"parents":["HP:0020111"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated CD4-positive, CD25-positive regulatory T cell count"},{"scope":"EXACT","text":"Elevated proportion of CD4+CD25+ regulatory T cells"},{"scope":"EXACT","text":"Increased proportion of CD4+CD25+ Treg cells"},{"scope":"EXACT","text":"Increased proportion of CD4+CD25+ regulatory T cells"},{"scope":"EXACT","text":"Increased proportion of Treg cells"},{"scope":"EXACT","text":"Increased proportion of regulatory T cells"}]} +{"alt_ids":["HP:0030336"],"definition":"Abnormal decrease of the regulatory (Treg) CD4+ T cell subpopulation, commonly characterized by the CD127lowCD25hi phenotype, with the optional additional positivity for FoxP3, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group.","id":"HP:0020113","name":"Decreased regulatory T cell proportion","obsolete":false,"parents":["HP:0020111"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Absence of CD4+CD25+ Tregs"},{"scope":"EXACT","text":"Decreased proportion of CD4+CD25+ Treg cells"},{"scope":"EXACT","text":"Decreased proportion of CD4+CD25+ regulatory T cells"},{"scope":"EXACT","text":"Decreased proportion of regulatory T cells"},{"scope":"EXACT","text":"Reduced proportion of CD4+CD25+ regulatory T cells"}]} +{"alt_ids":[],"definition":"Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease.","id":"HP:0020114","name":"Persistent human papillomavirus infection","obsolete":false,"parents":["HP:0032169"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic HPV infection"},{"scope":"EXACT","text":"Persistent HPV infection"}]} +{"alt_ids":[],"definition":"Abnormal increase or decrease of any CD8+ T cell subpopulation, measured as percentage of total CD8+ T cells in the blood, compared to a reference range for a given sex and age-group.","id":"HP:0020115","name":"Abnormal CD8+ T cell subset proportion","obsolete":false,"parents":["HP:0025540"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal CD8+ T cell subsets"}]} +{"alt_ids":[],"definition":"A circumscribed area of pus or necrotic debris located in the subcutaneous tissue (subcutaneous fat layer), below the dermis.","id":"HP:0020116","name":"Subcutaneous abscess","obsolete":false,"parents":["HP:0025615"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin.","id":"HP:0020117","name":"Hypoplastic dermoepidermal hemidesmosomes","obsolete":false,"parents":["HP:0032449"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Congenital absence of the radial artery.","id":"HP:0020118","name":"Radial artery aplasia","obsolete":false,"parents":["HP:0031640"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural abnormality of the retinal nerve fiber layer","id":"HP:0020119","name":"Abnormal retinal nerve fiber layer morphology","obsolete":false,"parents":["HP:0000479"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal retinal nerve fibre layer morphology"}]} +{"alt_ids":[],"definition":"Swelling (edema) of the retinal nerve fibers.","id":"HP:0020120","name":"Retinal nerve fiber edema","obsolete":false,"parents":["HP:0020119"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Retinal nerve fibre oedema"}]} +{"alt_ids":[],"definition":"A history of conception by an assisted reproductive technology such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation.","id":"HP:0020121","name":"Conception by assisted reproductive technology","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Red blood cells that appear to have parts of them bitten away.","id":"HP:0020122","name":"Bite cells","obsolete":false,"parents":["HP:0004447"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blister cells"},{"scope":"EXACT","text":"Degmacytes"}]} +{"alt_ids":[],"definition":"A stiffening of the tympanic membrane due to calcification, typically presents as white plaque-like lesions, involving discrete regions of the tympanic membrane and/or middle ear.","id":"HP:0020123","name":"Tympanosclerosis","obsolete":false,"parents":["HP:0008609"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tympanic calcification"}]} +{"alt_ids":[],"definition":null,"id":"HP:0020124","name":"Echopraxia","obsolete":false,"parents":["HP:6000768"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma.","id":"HP:0020125","name":"Spontaneous conjunctival filtering bleb","obsolete":false,"parents":["HP:0000502"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Conjunctival avascular cysts (filtering blebs)"},{"scope":"EXACT","text":"Spontaneous filtering bleb"}]} +{"alt_ids":[],"definition":"A lump detected in the prostate. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction.","id":"HP:0020126","name":"Prostate mass","obsolete":false,"parents":["HP:0008775"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A lump detected in the region that surrounds a joint. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction.","id":"HP:0020127","name":"Periarticular soft-tissue mass","obsolete":false,"parents":["HP:0001367"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell.","id":"HP:0020128","name":"Aplasia of the olfactory tract","obsolete":false,"parents":["HP:0100547"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation of the concentration of one or more proteins in the urine.","id":"HP:0020129","name":"Abnormal urine protein level","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter).","id":"HP:0020130","name":"Increased urinary neutrophil gelatinase-associated lipocalin","obsolete":false,"parents":["HP:0020129"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased urinary NGAL"}]} +{"alt_ids":[],"definition":"Abnormal structure of the basement membrane of the renal tubulus.","id":"HP:0020131","name":"Abnormal tubular basement membrane morphology","obsolete":false,"parents":["HP:0000091"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increase in thickness of the basement membrane of the tubulus of the kidney.","id":"HP:0020132","name":"Thickening of the tubular basement membrane","obsolete":false,"parents":["HP:0020131"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased visceral epithelial cell size, with or without cytoplasmic protein droplets.","id":"HP:0020133","name":"Podocyte hypertrophy","obsolete":false,"parents":["HP:0031265"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Glomerular visceral epithelial cell hypertrophy"},{"scope":"EXACT","text":"Hypertrophy of visceral epithelial cells"}]} +{"alt_ids":[],"definition":"Abnormally increased count of neutrophils in urine.","id":"HP:0020134","name":"Increased urine neutrophil count","obsolete":false,"parents":["HP:0012085"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A mesenchymal neoplasm characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. It usually appears as a subcutaneous nodule, but can also appear as an ulcer, pedunculated lesion, or similar to a hemangioma. Histology shows well-circumscribed tapered cell lobes, resembling smooth muscle cells. At its center, perivascular round cells (hemangiopericitoides) are usually observed, giving a biphasic appearance.","id":"HP:0020135","name":"Myofibromatosis","obsolete":false,"parents":["HP:0031459"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of circulating IgG autoantibodies to cardiolipin.","id":"HP:0020136","name":"Anticardiolipin IgG antibody positivity","obsolete":false,"parents":["HP:0003613"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of circulating IgM autoantibodies to cardiolipin.","id":"HP:0020137","name":"Anticardiolipin IgM antibody positivity","obsolete":false,"parents":["HP:0003613"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Medical history of a recent bite injury due to an animal.","id":"HP:0020138","name":"History of recent animal bite","obsolete":false,"parents":["HP:4000144"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Medical history of a recent bite injury due to an insect.","id":"HP:0020139","name":"History of recent insect bite","obsolete":false,"parents":["HP:4000144"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Medical history of a recent bite injury due to a tick.","id":"HP:0020140","name":"History of recent tick bite","obsolete":false,"parents":["HP:0020139"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm.","id":"HP:0020141","name":"Blood pressure substantially higher in legs than arms","obsolete":false,"parents":["HP:0030972"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blood pressure substantially higher in lower than upper extremities"},{"scope":"EXACT","text":"Blood pressure substantially lower in arms than legs"},{"scope":"EXACT","text":"Blood pressure substantially lower in upper than lower extremities"}]} +{"alt_ids":[],"definition":"An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm.","id":"HP:0020142","name":"Blood pressure substantially higher in arms than legs","obsolete":false,"parents":["HP:0030972"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blood pressure substantially higher in upper than lower extremities"},{"scope":"EXACT","text":"Increased arm-leg blood pressure gradient"}]} +{"alt_ids":[],"definition":"A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium.","id":"HP:0020143","name":"Tracheal duplication cyst","obsolete":false,"parents":["HP:0002778"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of calcium phosphate crystals in the urine.","id":"HP:0020144","name":"Calcium phosphate crystalluria","obsolete":false,"parents":["HP:0020074"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of calcium oxalate crystals in the urine.","id":"HP:0020145","name":"Calcium oxalate crystalluria","obsolete":false,"parents":["HP:0020074"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of calcium carbonate crystals in the urine.","id":"HP:0020146","name":"Calcium carbonate crystalluria","obsolete":false,"parents":["HP:0020074"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased concentration of 2-methylbutyryl glycine in the urine.","id":"HP:0020147","name":"2-Methylbutyryl glycinuria","obsolete":false,"parents":["HP:0033097"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally elevated concentration od mead acid in the blood circulation.","id":"HP:0020148","name":"Increased circulating mead acid level","obsolete":false,"parents":["HP:0003455"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase concentration of succinate in the blood circulation.","id":"HP:0020149","name":"Elevated circulating succinate","obsolete":false,"parents":["HP:0010995"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0020150","name":"Elevated urinary uromodulin level","obsolete":false,"parents":["HP:0034885"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urinary Tamm-Horsfall protein concentration"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA.","id":"HP:0020151","name":"Anti-dsDNA antibody positivity","obsolete":false,"parents":["HP:0020359"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-double-stranded DNA antibody positivity"}]} +{"alt_ids":[],"definition":"Lack of stability of a distal joint (e.g., finger).","id":"HP:0020152","name":"Distal joint hypermobility","obsolete":false,"parents":["HP:0430046"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Distal joint laxity"}]} +{"alt_ids":[],"definition":"Beta-1,3-glucan is a major constituent of all of the characterized fungal cell walls, making up between 30-80 percent of the mass of the wall. It is a biomarker of fungal infections such as invasive pulmonary aspergillosis.","id":"HP:0020153","name":"Positive blood 1,3 beta glucan test","obsolete":false,"parents":["HP:0410172"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of epidermal nevus characterized by closely arranged, dilated follicular openings with keratinous plugs resembling classical comedones.","id":"HP:0020154","name":"Nevus comedonicus","obsolete":false,"parents":["HP:0010816"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal structure of the female germ cell (egg cell).","id":"HP:0020155","name":"Abnormal oocyte morphology","obsolete":false,"parents":["HP:0025461"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal structure of the oocyte extracellular matrix region known as the zona pellucida.","id":"HP:0020156","name":"Abnormal zona pellucida morphology","obsolete":false,"parents":["HP:0020155"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced thickness of the zona pellucida.","id":"HP:0020157","name":"Thin zona pellucida","obsolete":false,"parents":["HP:0020156"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation.","id":"HP:0020158","name":"Increased circulating adrenic acid concentration","obsolete":false,"parents":["HP:0004359"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased circulating docosatetraenoate level"}]} +{"alt_ids":[],"definition":"Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels.","id":"HP:0020159","name":"Reduced response to gonadotropin-releasing hormone stimulation test","obsolete":false,"parents":["HP:0031279"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduce response to GnRH stimulation test"}]} +{"alt_ids":[],"definition":"Cellular accumulation of GM1 gangliosides.","id":"HP:0020160","name":"GM1-ganglioside accumulation","obsolete":false,"parents":["HP:0004345"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Blockage of a branch of the retinal artery. This can cause loss of a section of visual field.","id":"HP:0020161","name":"Branch retinal artery occlusion","obsolete":false,"parents":["HP:0025326"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A morphological abnormality of of tumor or neoplastic cells, characterized by atypical size, shape, cytoplasmic or nuclear features, or other deviations from normal cellular architecture.","id":"HP:0020162","name":"Abnormal neoplastic cell morphology","obsolete":false,"parents":["HP:0020092"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Ischemia in the territory of the cilioretinal artery causing opacification of the inner retina and visual loss. This is most commonly seen in central retinal vein occlusion in the young.","id":"HP:0020163","name":"Cilioretinal arteriolar hypoperfusion","obsolete":false,"parents":["HP:0000630"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cilioretinal artery occlusion"}]} +{"alt_ids":[],"definition":"Acute complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion associated with choroidal ischemia.","id":"HP:0020164","name":"Ophthalmic artery occlusion","obsolete":false,"parents":["HP:0000630"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels.","id":"HP:0020165","name":"Branch retinal vein occlusion","obsolete":false,"parents":["HP:0012636"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Branch retinal vein obstruction"}]} +{"alt_ids":[],"definition":"Central retinal vein occlusion is an occlusion of the main retinal vein posterior to the lamina cribrosa of the optic nerve and is typically caused by thrombosis.","id":"HP:0020166","name":"Central retinal vein occlusion","obsolete":false,"parents":["HP:0012636"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A variant of central retinal vein occlusions that involves the superior or inferior half of the retina.","id":"HP:0020167","name":"Hemiretinal vein occlusion","obsolete":false,"parents":["HP:0012636"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A signet ring has a flattened surface at the top of the ring with an engraved or raised symbol, historically used to stamp a seal into correspondence. Comparatively, these cells acquire a signet cell morphology due to accumulation of abundant mucin in cytoplasm, leading to nuclei dislocation to the periphery.","id":"HP:0020168","name":"Tumor signet ring cell","obsolete":false,"parents":["HP:0020162"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomalous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy.","id":"HP:0020169","name":"Abnormal drug response","obsolete":false,"parents":["HP:0001939"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime.","id":"HP:0020170","name":"Increased blood drug concentration","obsolete":false,"parents":["HP:0020169"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated blood drug concentration"},{"scope":"EXACT","text":"Elevated plasma drug concentration"},{"scope":"EXACT","text":"Elevated serum drug concentrations"},{"scope":"EXACT","text":"Increased plasma drug concentration"},{"scope":"EXACT","text":"Increased serum drug concentration"}]} +{"alt_ids":[],"definition":"Low plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime.","id":"HP:0020171","name":"Decreased blood drug concentration","obsolete":false,"parents":["HP:0020169"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased plasma drug concentration"},{"scope":"EXACT","text":"Decreased serum drug concentration"},{"scope":"EXACT","text":"Reduced blood drug concentration"},{"scope":"EXACT","text":"Reduced plasma drug concentration"},{"scope":"EXACT","text":"Reduced serum drug concentrations"}]} +{"alt_ids":[],"definition":"An unpleasant or harmful reaction resulting from treatment with a drug.","id":"HP:0020172","name":"Adverse drug response","obsolete":false,"parents":["HP:0020169"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Adverse drug reaction"},{"scope":"EXACT","text":"Drug-induced reaction"},{"scope":"EXACT","text":"Drug-induced response"},{"scope":"EXACT","text":"Toxic drug response"}]} +{"alt_ids":[],"definition":"Decreased response to a drug intervention in comparison to the expected response.","id":"HP:0020173","name":"Reduced drug efficacy","obsolete":false,"parents":["HP:0020169"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased drug efficacy"}]} +{"alt_ids":[],"definition":"Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course.","id":"HP:0020174","name":"Refractory drug response","obsolete":false,"parents":["HP:0020169"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Drug resistance"}]} +{"alt_ids":[],"definition":"Activity or concentration of cholinesterase in the blood circulation below the lower limit of normal.","id":"HP:0020175","name":"Reduced circulating cholinesterase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced cholinesterase level"}]} +{"alt_ids":[],"definition":"The presence of cholesterol crystals in the urine.","id":"HP:0020176","name":"Cholesterol crystalluria","obsolete":false,"parents":["HP:0020074"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.","id":"HP:0020177","name":"Abnormal CD8+ TEMRA T cell proportion","obsolete":false,"parents":["HP:0410380"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal CD8-positive TEMRA T cell proportion"},{"scope":"EXACT","text":"Abnormal proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated"}]} +{"alt_ids":[],"definition":"A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative).","id":"HP:0020178","name":"Abnormal dendritic cell count","obsolete":false,"parents":["HP:0011893"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of haptoglobin in the blood circulation.","id":"HP:0020179","name":"Abnormal circulating haptoglobin concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal haptoglobin level"}]} +{"alt_ids":[],"definition":"The concentration of haptoglobin in the blood circulation is above the upper limit of normal.","id":"HP:0020180","name":"Elevated circulating haptoglobin concentration","obsolete":false,"parents":["HP:0020179"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated haptoglobin concentration"},{"scope":"EXACT","text":"Elevated haptoglobin level"},{"scope":"EXACT","text":"Elevated haptoglobin level in blood"},{"scope":"EXACT","text":"Increased haptoglobin concentration"},{"scope":"EXACT","text":"Increased haptoglobin level"},{"scope":"EXACT","text":"Increased haptoglobin level in blood"}]} +{"alt_ids":[],"definition":"The concentration of haptoglobin in the blood circulation is below the lower limit of normal.","id":"HP:0020181","name":"Decreased circulating haptoglobin concentration","obsolete":false,"parents":["HP:0020179"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased haptoglobin concentration"},{"scope":"EXACT","text":"Decreased haptoglobin level"},{"scope":"EXACT","text":"Decreased haptoglobin level in blood"},{"scope":"EXACT","text":"Reduced haptoglobin concentration"},{"scope":"EXACT","text":"Reduced haptoglobin level"},{"scope":"EXACT","text":"Reduced haptoglobin level in blood"}]} +{"alt_ids":[],"definition":"A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.","id":"HP:0020182","name":"Abnormal circulating A-type atrial natriuretic peptide concentration","obsolete":false,"parents":["HP:6000692"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal A-type atrial natriuretic peptide level"}]} +{"alt_ids":[],"definition":"A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.","id":"HP:0020183","name":"Increased circulating A-type natriuretic peptide concentration","obsolete":false,"parents":["HP:0020182"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased circulating A-type natriuretic peptide level"}]} +{"alt_ids":[],"definition":"A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.","id":"HP:0020184","name":"Decreased circulating A-type natriuretic peptide concentration","obsolete":false,"parents":["HP:0020182"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating A-type natriuretic peptide level"}]} +{"alt_ids":[],"definition":"Abnormal morphological development of the superior part of the cerebellum.","id":"HP:0020185","name":"Superior cerebellar dysplasia","obsolete":false,"parents":["HP:0007033"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen.","id":"HP:0020186","name":"Multilobulated spleen","obsolete":false,"parents":["HP:0025408"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multi-lobulated spleen"}]} +{"alt_ids":[],"definition":"Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.","id":"HP:0020187","name":"Thick pachygyria","obsolete":false,"parents":["HP:0001302"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pachygyria with cortical thickness > 10 mm"},{"scope":"EXACT","text":"Pachygyria with cortical thickness above 10 mm"}]} +{"alt_ids":[],"definition":"Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.","id":"HP:0020188","name":"Anterior predominant pachygyria with 5-10 mm cortical thickness","obsolete":false,"parents":["HP:0020192"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pachygyria with cortical thickness above 10 mm with and a posterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.","id":"HP:0020189","name":"Posterior predominant thick cortex pachygyria","obsolete":false,"parents":["HP:0020187"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Occipital predomimant classic pachygyria"},{"scope":"EXACT","text":"Pachygyria with cortical thickness over 10 mm posterior predominant"}]} +{"alt_ids":[],"definition":"Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.","id":"HP:0020190","name":"Perisylvian predominant thick cortex pachygyria","obsolete":false,"parents":["HP:0020187"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pachygyria with cortical thickness > 10 mm perisylvian predominant"}]} +{"alt_ids":[],"definition":"Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes.","id":"HP:0020191","name":"Anterior predominant thick cortex pachygyria","obsolete":false,"parents":["HP:0020187"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pachygyria with cortical thickness > 10 mm anterior predominant"}]} +{"alt_ids":[],"definition":"Pachygyria with a mildly thickened cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.","id":"HP:0020192","name":"Pachygyria with 5-10 mm cortical thickness","obsolete":false,"parents":["HP:0001302"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds.","id":"HP:0020193","name":"Prolonged reptilase time","obsolete":false,"parents":["HP:0001928"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal IgA heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.","id":"HP:0020194","name":"IgA heavy chain paraproteinemia","obsolete":false,"parents":["HP:0031049"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Alpha heavy chain disease"}]} +{"alt_ids":[],"definition":"An abnormal IgG heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.","id":"HP:0020195","name":"IgG heavy chain paraproteinemia","obsolete":false,"parents":["HP:0031049"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Gamma heavy-chain disease"}]} +{"alt_ids":[],"definition":"An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.","id":"HP:0020196","name":"IgM heavy chain paraproteinemia","obsolete":false,"parents":["HP:0031049"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased circulation of arachidonic acid in the blood circulation.","id":"HP:0020197","name":"Increased circulating arachidonic acid concentration","obsolete":false,"parents":["HP:0010964"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased circulating arachidonate level"},{"scope":"EXACT","text":"Increased circulating arachidonic acid level"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation.","id":"HP:0020198","name":"Abnormal circulating 18-hydroxycorticosterone level","obsolete":false,"parents":["HP:0012112"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation.","id":"HP:0020199","name":"Decreased circulating 18-hydroxycortisone level","obsolete":false,"parents":["HP:0020198"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation.","id":"HP:0020200","name":"Increased circulating 18-hydroxycortisone level","obsolete":false,"parents":["HP:0020198"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z disks.","id":"HP:0020201","name":"Abnormal sarcomere morphology","obsolete":false,"parents":["HP:0004303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the Z disk, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.","id":"HP:0020202","name":"Abnormal Z disk morphology","obsolete":false,"parents":["HP:0020201"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disk may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change.","id":"HP:0020203","name":"Z-band streaming","obsolete":false,"parents":["HP:0020202"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains.","id":"HP:0020204","name":"Tubulointerstitial bacterial infiltration","obsolete":false,"parents":["HP:0032635"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Renal tubulointerstitial bacterial organisms"}]} +{"alt_ids":[],"definition":"Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains.","id":"HP:0020205","name":"Tubulointerstitial fungal infiltration","obsolete":false,"parents":["HP:0032635"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Renal tubulointerstitial fungal organisms"}]} +{"alt_ids":[],"definition":"The pinna has fewer folds and grooves than usual.","id":"HP:0020206","name":"Simple ear","obsolete":false,"parents":["HP:0000377"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Seizures precipitated by exogenous stimuli.","id":"HP:0020207","name":"Reflex seizure","obsolete":false,"parents":["HP:0001250"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period.","id":"HP:0020208","name":"Eating-induced seizure","obsolete":false,"parents":["HP:0020207"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger.","id":"HP:0020209","name":"Hot water-induced seizure","obsolete":false,"parents":["HP:0020207"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making.","id":"HP:0020210","name":"Praxis-induced seizure","obsolete":false,"parents":["HP:0020207"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A seizure precipitated by movement or a change in posture.","id":"HP:0020211","name":"Proprioceptive-induced seizure","obsolete":false,"parents":["HP:0020207"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A seizure precipitated by reading.","id":"HP:0020212","name":"Reading-induced seizure","obsolete":false,"parents":["HP:0020207"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise.","id":"HP:0020213","name":"Somatosensory-induced seizure","obsolete":false,"parents":["HP:0020207"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus.","id":"HP:0020214","name":"Startle-induced seizure","obsolete":false,"parents":["HP:0020207"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Seizures induced by thinking and decision-making.","id":"HP:0020215","name":"Thinking-induced seizure","obsolete":false,"parents":["HP:0020207"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cognition induced seizure"}]} +{"alt_ids":[],"definition":"Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect.","id":"HP:0020216","name":"Visually-induced seizure","obsolete":false,"parents":["HP:0020207"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Photosensitive seizure"}]} +{"alt_ids":[],"definition":"A type of focal motor seizure in which awareness is retained throughout the seizure.","id":"HP:0020217","name":"Focal aware motor seizure","obsolete":false,"parents":["HP:0002349","HP:0011153"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal motor aware seizure"}]} +{"alt_ids":[],"definition":"A type of focal atonic seizure during which awareness is fully retained throughout.","id":"HP:0020218","name":"Focal aware atonic seizure","obsolete":false,"parents":["HP:0020217","HP:0020220"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.","id":"HP:0020219","name":"Motor seizure","obsolete":false,"parents":["HP:0001250"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature.","id":"HP:0020220","name":"Focal atonic seizure","obsolete":false,"parents":["HP:0010819","HP:0011153"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Localised atonic seizure"},{"scope":"EXACT","text":"Localised hypotonic seizure"},{"scope":"EXACT","text":"Localized atonic seizure"},{"scope":"EXACT","text":"Localized hypotonic seizure"},{"scope":"EXACT","text":"Partial atonic seizure"},{"scope":"EXACT","text":"Partial hypotonic seizure"},{"scope":"EXACT","text":"Segmental atonic seizure"},{"scope":"EXACT","text":"Segmental hypotonic seizure"}]} +{"alt_ids":[],"definition":"A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.","id":"HP:0020221","name":"Clonic seizure","obsolete":false,"parents":["HP:0020219"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A decreased concentration of homocysteine in the blood.","id":"HP:0020222","name":"Hypohomocysteinemia","obsolete":false,"parents":["HP:0010919"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lower blood homocysteine"}]} +{"alt_ids":[],"definition":"A dermal sinus tract is an abnormality present at birth over the dorsal midline where an abnormal epithelialized connection from the skin tracks inwards towards the spine, most commonly seen in the lumbosacral region.","id":"HP:0020223","name":"Dermal sinus tract","obsolete":false,"parents":["HP:0034238"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A non-proliferative inflammatory disorder of the large duct (milk duct) of the breast; as such, it affects nipple and areola complex. The condition is characterized by focal dilatation of the lactiferous duct system is due to endoluminal changes, as well as the loss of duct wall elastin, leading to abnormally dilated and tortuous lactiferous ducts with associated periductal inflammation and fibrosis. Mammary duct ectasia may present with nipple discharge or palpable mass.","id":"HP:0020224","name":"Mammary duct ectasia","obsolete":false,"parents":["HP:0031093"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A circumscribed area of pus or necrotic debris in the breast.","id":"HP:0020225","name":"Breast abscess","obsolete":false,"parents":["HP:0025615","HP:0031093"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pain or discomfort produced by touching the nipple.","id":"HP:0020226","name":"Nipple tenderness","obsolete":false,"parents":["HP:0012531"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal configuration in which the gallbladder is pedunculated, hanging free of the liver, and attached only by the cystic mesentery,","id":"HP:0020227","name":"Floating gallbladder","obsolete":false,"parents":["HP:0012437"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A phenotypic abnormality obvserved in a biospecimen such as a biopsy or an extirpated tumor or tissue.","id":"HP:0020228","name":"Biospecimen phenotypic feature","obsolete":false,"parents":["HP:0000001"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormal phenotypic feature observed in a biospecimen derived from a lymph node, generally obtained by lymph node biopsy (removal of lymph node tissue for microscopic examination).","id":"HP:0020229","name":"Abnormal lymph-node biospecimen","obsolete":false,"parents":["HP:0020228"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any phenotypic abnormality of the architecture of the tissue of a lymph node.","id":"HP:0020230","name":"Abnormal lymph-node tissue architecture","obsolete":false,"parents":["HP:0020229"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any phenotypic abnormality within cells located in a lymph node.","id":"HP:0020231","name":"Abnormal lymph-node cellular finding","obsolete":false,"parents":["HP:0020229"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the Q wave of the electrocardiogram.","id":"HP:0020232","name":"Abnormal Q wave","obsolete":false,"parents":["HP:0025074"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Pathological Q wave"}]} +{"alt_ids":[],"definition":"Abnormal expression of an antigen (marker) by cells located in a lymph node.","id":"HP:0020233","name":"Abnormal lymph-node cellular antigen expression","obsolete":false,"parents":["HP:0020229"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An alteration that affects multiple components of the architecture of a lymph node.","id":"HP:0020234","name":"Altered lymph-node tissue architecture","obsolete":false,"parents":["HP:0020230"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Distorted lymph node architecture"}]} +{"alt_ids":[],"definition":"Effacement of architecture typically refers to a cellular infiltrate destroying the normal follicular architecture of a lymph node. This effacement may result in sheets of cells that do not form clear architecture (seen in many lymphomas) or may lead to replacement of the normal architecture by atypical architecture, for example effacement of normal lymph node architecture (including normal follicles and patent lymph node sinuses) by many abnormal follicles in follicular lymphoma.","id":"HP:0020235","name":"Effaced lymph-node architecture","obsolete":false,"parents":["HP:0020234"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"In contrast to normal lymph node architecture or that of follicular lymphoma, where follicles are typically distinct and readily identifiable on H&E stained biopsy sections, the cells within an atypical lymph node may show what appear to groups of cells forming vague nodules but not forming clear follicles.","id":"HP:0020236","name":"Vaguely nodular lymph-node architecture","obsolete":false,"parents":["HP:0020234"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Migration of substantial numbers of lymphocytes into the capsule of a lymph node.","id":"HP:0020237","name":"Lymph-node capsular invasion by lymphocytes","obsolete":false,"parents":["HP:0020230"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Migration of lymphocytes into the soft tissues surrounding the lymph node.","id":"HP:0020238","name":"Lymph-node extracapsular extension by lymph-node lymphocytes","obsolete":false,"parents":["HP:0020230"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Number of epithelioid histiocytes (histiocytes are tissue-resident macrophages) located within a lymph node above the upper limit of normal.","id":"HP:0020239","name":"Increased lymph-node epithelioid histiocyte count","obsolete":false,"parents":["HP:0020231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Many individual (not clustered) epithelioid histiocytes throughout at least part of a lymph node.","id":"HP:0020240","name":"Scattered lymph node individual epithelioid histiocytes","obsolete":false,"parents":["HP:0020239"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Formation of clusters (group of cells positioned near each other) of epithelioid histiocytes within a lymph node.","id":"HP:0020241","name":"Clustered lymph node epithelioid histiocytes","obsolete":false,"parents":["HP:0020239"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any phenotypic abnormality of the architecture of follicles of a lymph node.","id":"HP:0020242","name":"Abnormal lymph-node follicle architecture","obsolete":false,"parents":["HP:0020230"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal follicular lymph-node architecture"}]} +{"alt_ids":[],"definition":"Atypical lymph node follicles that have mantle zone cells invaginating/infiltrating into the follicle centers, which is said to confer a flower-like appearance.","id":"HP:0020243","name":"Floral-pattern lymph node follicles","obsolete":false,"parents":["HP:0020242"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Floral follicular lymph node architecture"},{"scope":"EXACT","text":"Floral growth pattern"}]} +{"alt_ids":[],"definition":"In contrast to follicular lymphoma, which typically is a lymphoma that forms follicles or potentially completely replaces normal follicles, some lymphomas (most commonly marginal zone lymphoma) can infiltrate normal follicles so both normal lymphocytes and the infiltrating lymphoma cells are present. This is called colonization of follicles by the lymphoma cells.","id":"HP:0020244","name":"Colonization of follicles by lymphoma cells","obsolete":false,"parents":["HP:0020242"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Follicular colonisation"},{"scope":"EXACT","text":"Follicular colonization"}]} +{"alt_ids":[],"definition":"Reduction in the average distance between adjacent lymph node follicles.","id":"HP:0020245","name":"Crowded lymph-node follicles","obsolete":false,"parents":["HP:0020242"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Crowded follicles"}]} +{"alt_ids":[],"definition":"An abnormal morphology of hyperplastic lymph node follicles characterized by distortion of the follicular architecture by tongues and clusters of dark blue mantle cells impinging on and invading the reactive germinal center (Mostly T cells and mantle-zone B cells).","id":"HP:0020246","name":"Lymph-node follicular lysis","obsolete":false,"parents":["HP:0020242"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Follicular lysis"}]} +{"alt_ids":[],"definition":"A loss of the typical polarization of the architecture of a lymph node germinal center.","id":"HP:0020247","name":"Non-polarized lymph node germinal centers","obsolete":false,"parents":["HP:0020255"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the typically fairly round or oval form of a lymph node germinal center.","id":"HP:0020248","name":"Irregularly shaped lymph node germinal centers","obsolete":false,"parents":["HP:0020255"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the structure of the mantle or marginal zone of a lymph node.","id":"HP:0020249","name":"Abnormal lymph-node marginal or mantle zone morphology","obsolete":false,"parents":["HP:0020242"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0020250","name":"Abnormal lymph node marginal zone morphology","obsolete":false,"parents":["HP:0020249"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0020251","name":"Abnormal lymph node mantle zone morphology","obsolete":false,"parents":["HP:0020249"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the synovial-like fluid found within a bursa, which is a small, closed sac lined by synovial membrane that reduces friction between tissues such as tendons, muscles, ligaments, and bones.","id":"HP:0020252","name":"Abnormal bursal fluid morphology","obsolete":false,"parents":["HP:0001367"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Enlargement of the typical outer ring of small lymphocytes (mantle zone) surrounding a germinal center of a lymph node.","id":"HP:0020253","name":"Lymph node with expanded mantle zones","obsolete":false,"parents":["HP:0020251"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Germinal centers with expanded mantle zones"},{"scope":"EXACT","text":"Germinal centres with expanded mantle zones"}]} +{"alt_ids":[],"definition":"Reduced demarcation of the border between germinal centers and mantle zones. This border is typically seen as a crisp line on hematoxylin and eosin (H&E)-stained lymph node sections.","id":"HP:0020254","name":"Lymph node with poorly defined germinal center borders","obsolete":false,"parents":["HP:0020255"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any phenotypic abnormality of germinal centers of a lymph node.","id":"HP:0020255","name":"Abnormal lymph-node germinal center morphology","obsolete":false,"parents":["HP:0020242"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The count of leukocytes per unit volume in a bursa aspirate specimen is above the uppper limit of normal.","id":"HP:0020256","name":"Elevated bursal fluid leukocyte count","obsolete":false,"parents":["HP:0020252"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This refers to an architectural pattern of infiltration where atypical lymphocytes surround germinal centers, often expanding the mantle zones but without effacing architecture.","id":"HP:0020257","name":"Mantle zone pattern","obsolete":false,"parents":["HP:0020251"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0020258","name":"Germinal centers with absent marginal zones","obsolete":false,"parents":["HP:0020250"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fetal head width measurement, taken between the outer edge of the proximal parietal bone and the inner edge of the distal parietal bone, below the lower limit of normal, usually taken to be two standard deviations below the norm or above the 3rd percentile for the gestational age.","id":"HP:0020259","name":"Decreased biparietal diameter","obsolete":false,"parents":["HP:6001417"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased BPD"}]} +{"alt_ids":[],"definition":"Fetal head width measurement, taken between the outer edge of the proximal parietal bone and the inner edge of the distal parietal bone, above the upper limit of normal, usually taken to be two standard deviations above the norm or above the 97th percentile for the gestational age.","id":"HP:0020260","name":"Increased biparietal diameter","obsolete":false,"parents":["HP:6001417"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased BPD"}]} +{"alt_ids":[],"definition":"Lack of the typical easily recognized delineation of primary follicles within lymph nodes.","id":"HP:0020261","name":"Poorly defined primary lymph-node follicles","obsolete":false,"parents":["HP:0020242"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This is a condition sometimes seen in a subset of germinal centers of reactive lymph nodes where germinal centers become enlarged and infiltrated by benign mantle zone cells and some T cells.","id":"HP:0020262","name":"Progressive transformation of germinal centers","obsolete":false,"parents":["HP:0020255"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"PTGC"}]} +{"alt_ids":[],"definition":"Lack of observable tingible body macrophages (TBMs) in germinal centers (GCs) of secondary lymphoid follicles. TBMs represent unique, large phagocytic cells that reside and are a subset of mononuclear phagocytes.","id":"HP:0020263","name":"Absent germinal center tingible body macrophages","obsolete":false,"parents":["HP:0020255"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of extreme paucity of mitotic figures in a lymph node germinal center.","id":"HP:0020264","name":"Lack of germinal center mitotic figures","obsolete":false,"parents":["HP:0020255"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lack of the typical polarization of the outer ring of small lymphocytes (mantle zone) surrounding a germinal center of a lymph node.","id":"HP:0020265","name":"Non-polarized mantle zones","obsolete":false,"parents":["HP:0020251"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hyalinized means to become clear/translucent such as collagen becoming more pale staining (collagen is typically quite eosinophilic, meaning attracted to the pink/red dye eosin); however, with regard to vessels in the lymph node, hyalinization is often used to describe vessel walls that appear markedly thickened or surrounded by eosinophilic material such as collagen, not necessarily translucent appearing.","id":"HP:0020266","name":"Hyalinized lymph-node vessels","obsolete":false,"parents":["HP:0020230"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Collagen deposition, typically with decreased cellularity, within lymph-node follicles.","id":"HP:0020267","name":"Lymph-node follicular sclerosis","obsolete":false,"parents":["HP:0020242"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Follicular sclerosis"}]} +{"alt_ids":[],"definition":"Loss of the typical patency (openness) of lymph node sinuses.","id":"HP:0020268","name":"Compressed lymph-node sinuses","obsolete":false,"parents":["HP:0020230"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Proliferation centers are a finding specific to chronic lymphocytic leukemia/small lymphocytic lymphoma where regions (typically relatively small, comparable to the size of a lymph node follicle) appear more pale on H&E stained sections (though they may become enlarged to merge together). These areas contain increased numbers of enlarged lymphoma cells with nucleoli (prolymphocytes and paraimmunoblasts) and show a higher proliferation rate (readily visualized with a Ki-67 immunohistochemical stain) than surrounding lymphoma cells. They can be mistaken as vague follicle formation and are therefore sometimes referred to as pseudofollicles.","id":"HP:0020269","name":"Lymph-node proliferation centers","obsolete":false,"parents":["HP:0020230"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pseudofollicles"}]} +{"alt_ids":[],"definition":"Lymphocytes in the mantle zones of lymph node secondary follicles show cellular atypia such as enlarged size, increased cytoplasm, atypical distribution of chromatin, or irregular nuclear contours.","id":"HP:0020270","name":"Cytologic atypia in mantle cells","obsolete":false,"parents":["HP:0020231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Eosinophils count within a lymph node above normal limits.","id":"HP:0020271","name":"Increased lymph-node eosinophils","obsolete":false,"parents":["HP:0020231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Number of plasma cells per lymph node above the upper limit of normal.","id":"HP:0020272","name":"Increased lymph-node plasma cells","obsolete":false,"parents":["HP:0020231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased numbers of mitotic figures outside of germinal centers.","id":"HP:0020273","name":"High lymph node non-germinal center mitotic activity","obsolete":false,"parents":["HP:0020231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lymphocytes that show morphologic features resembling monocytes, such as increased cytoplasm and slightly enlarged nuclei that are more irregular than most lymph node lymphocytes.","id":"HP:0020274","name":"Lymph-node lymphocyte monocytoid morphology","obsolete":false,"parents":["HP:0020231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased morphological variability of lymph node lymphocytes as compared to the typically somewhat heterogeneous morphology of populations of benign lymph node lymphocytes.","id":"HP:0020275","name":"Reduced lymph node lymphocyte morphological variability","obsolete":false,"parents":["HP:0020231"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Monomorphic cells"}]} +{"alt_ids":[],"definition":"An increased number of large lymphocytes within a lymph node compared to a normal non-reactive lymph node.","id":"HP:0020276","name":"Increased large lymphocytes in lymph node","obsolete":false,"parents":["HP:0020231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hodgkin cells are typically large and often show very large nucleoli and sometimes binucleation or multinucleation. Reed-Sternberg cells are a type of Hodgkin cell that is binucleated with very large nucleoli that stains slightly red on H&E stained sections (often said to mimic owl eyes). Other Hodgkin cell morphologies include cells that are dying with dark basophilic (blue) nuclei that appear somewhat smudged (mummified cells) and cells with a large space around or adjacent to the nuclei and retracted cytoplasm after tissue fixation (lacunar cells). Hodgkin cells are characteristic of Hodgkin lymphoma, however several non-Hodgkin lymphomas and noN-neoplastic conditions are known to sometimes show a few similar morphology cells.","id":"HP:0020277","name":"Hodgkin morphology cells","obsolete":false,"parents":["HP:0020231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0020278","name":"Abnormal lymph-node lymphoctye nuclear morphology","obsolete":false,"parents":["HP:0020231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lymph node lymphocyte nuclei that are more irregular than the typical round to slightly oval shapes of the majority of lymph node lymphocytes.","id":"HP:0020279","name":"Irregular lymph-node lymphocyte nuclei","obsolete":false,"parents":["HP:0020278"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Dutcher bodies are collections of immunoglobulin protein that overlie or invaginate into the nucleus of plasma cells. These nuclear pseudoinclusions can occasionally be seen in reactive states and may be increased in specific neoplastic conditions.","id":"HP:0020280","name":"Lymph-node Dutcher bodies","obsolete":false,"parents":["HP:0020231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Nuclei of lymphocytes with less dense, evenly distributed chromatin than the normal densely packed, often clumped chromatin of mature lymphocytes.","id":"HP:0020281","name":"Finely dispersed lymph node lymphocyte chromatin","obsolete":false,"parents":["HP:0020282"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any phenotypic abnormality of the chromatin (complex of DNA and protein which comprises chromosomes) of lymphocytes that are located within a lymph node.","id":"HP:0020282","name":"Abnormal lymph-node lymphocyte chromatin","obsolete":false,"parents":["HP:0020278"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Nuclei of lymphocytes show multiple small densely packed areas of chromatin that appear as relatively evenly spaced clumps of basophilic (blue) staining within the nuclei on Hematoxylin and eosin (H&E) stained sections.","id":"HP:0020283","name":"Clumping of lymph node lymphocyte chromatin","obsolete":false,"parents":["HP:0020282"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any phenotypic abnormality of the cytoplasm (material located within the cell membrane but excluding the nucleus) of lymphocytes that are located within a lymph node.","id":"HP:0020284","name":"Abnormal lymph-node lymphocyte cytoplasm morphology","obsolete":false,"parents":["HP:0020231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of cytoplasm in lymphocytes is even less than the relatively little cytoplasm found in the majority of lymphocytes within lymph nodes.","id":"HP:0020285","name":"Decreased lymph node lymphocyte cytoplasm","obsolete":false,"parents":["HP:0020284"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Scant lymph node lymphocyte cytoplasm"}]} +{"alt_ids":[],"definition":"Increased amount of cytoplasm compared to the majority of lymphocytes in a benign lymph node.","id":"HP:0020286","name":"Increased lymph node lymphocyte cytoplasm","obsolete":false,"parents":["HP:0020284"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of an abnormal level of CD19 on the cell(s) of interest in a lymph node with the use of anti-CD19 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).","id":"HP:0020287","name":"Abnormal level of lymph-node cellular CD19 expression","obsolete":false,"parents":["HP:0020288"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal expression of an antigen (marker) that is normally expressed by B lymphocytes.","id":"HP:0020288","name":"Abnormal lymph-node cellular B-cell marker expression","obsolete":false,"parents":["HP:0020233"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of abnormal levels of CD20 on the cell(s) of interest with the use of anti-CD20 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).","id":"HP:0020289","name":"Abnormal level of lymph-node cellular CD20 expression","obsolete":false,"parents":["HP:0020288"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of the presence of CD79a on the cell(s) of interest with the use of anti-CD79a antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).","id":"HP:0020290","name":"CD79a expression","obsolete":false,"parents":["HP:0430091"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased levels of CD20 expression compared to normal B cells.","id":"HP:0020291","name":"Increased lymph-node cellular CD20 expression","obsolete":false,"parents":["HP:0020289"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased levels of CD20 expression compared to normal B cells.","id":"HP:0020292","name":"Decreased lymph-node cellular CD20 expression","obsolete":false,"parents":["HP:0020289"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased levels of CD19 expression compared to normal B cells.","id":"HP:0020293","name":"Decreased lymph-node cellular CD19 expression","obsolete":false,"parents":["HP:0020287"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased levels of CD19 expression compared to normal B cells.","id":"HP:0020294","name":"Increased lymph-node cellular CD19 expression","obsolete":false,"parents":["HP:0020287"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of the presence of PAX5 on the cell(s) of interest with the use of anti-PAX5 antibodies conjugated to a chromogen (for immunohistochemistry).","id":"HP:0020295","name":"PAX5 expression","obsolete":false,"parents":["HP:0430091"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Positive staining for BCL2 apoptosis regulator protein in lymph-node germinal center B cells.","id":"HP:0020296","name":"Germinal center B-lymphocyte BCL2 expression","obsolete":false,"parents":["HP:0020233"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal occipitofrontal diameter (OFD) refers to a fetal head width measurement, taken between the root of the nose to the most prominent part of the occiput on an ultrasound image that lies outside the expected range for a given gestational age. The expected range typically falls between the 3rd percentile (or more than 2 standard deviations below the mean) and the 97th percentile (or more than 2 standard deviations above the mean).","id":"HP:0020297","name":"Abnormal occipitofrontal diameter","obsolete":false,"parents":["HP:0034245"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Occipitofrontal diameter, measured with fetal sonography, below the lower limit of normal.","id":"HP:0020298","name":"Decreased occipitofrontal diameter","obsolete":false,"parents":["HP:0020297"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Occipitofrontal diameter, measured with fetal sonography, above the upper limit of normal.","id":"HP:0020299","name":"Increased occipitofrontal diameter","obsolete":false,"parents":["HP:0020297"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the joint that connects the upper and the lower arm.","id":"HP:0020300","name":"Abnormal elbow morphology","obsolete":false,"parents":["HP:0009811"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional anomaly of the joint that connects the upper and the lower arm.","id":"HP:0020301","name":"Abnormal elbow physiology","obsolete":false,"parents":["HP:0009811"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A behavioral pattern characterized by a deliberate and sustained limitation of food intake, often involving avoidance of certain foods, restriction of portion size, or prolonged fasting, resulting in reduced energy or nutrient consumption relative to physiological needs.","id":"HP:0020302","name":"Restrictive eating","obsolete":false,"parents":["HP:0100738"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Anorexia nervosa"}]} +{"alt_ids":[],"definition":"Any deviation from the normal range of the fetal abdominal circumference, which is typically measured sonographically in a transverse view using the outer borders of the skin line at the plane where the fetal stomach, umbilical vein and portal sinus is visible. Abnormal fetal abdominal circumference is defined as less than the 10th or greater than the 90th percentile for gestational age.","id":"HP:0020303","name":"Abnormal fetal abdominal circumference","obsolete":false,"parents":["HP:0034207"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The distance around the abdomen of a fetus, generally as measured by prenatal sonography, is above the upper limit of normal.","id":"HP:0020304","name":"Increased fetal abdominal circumference","obsolete":false,"parents":["HP:0020303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal range of the fetal head circumference, which is typically measured sonographically in the axial plane at the level of the thalami and cavum septic pellucidi, using the outer border of the bony calvarium. Abnormal fetal head circumference is defined as less than the thrid percentile or 2 standard deviations below the mean or greater than the 97the percentile or 2 standard deviations above the mean.","id":"HP:0020305","name":"Abnormal fetal head circumference","obsolete":false,"parents":["HP:0034245"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fetal head circumference less than the third percentile or 2 standard deviations below the mean.","id":"HP:0020306","name":"Decreased fetal head circumference","obsolete":false,"parents":["HP:0020305"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fetal head circumference above the 97th percentile or 2 standard deviations above the mean.","id":"HP:0020307","name":"Increased fetal head circumference","obsolete":false,"parents":["HP:0020305"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increase in the anteroposterior (axial) dimension of the crystalline lens relative to the overall length of the globe.","id":"HP:0020308","name":"Increased anteroposterior lens thickness","obsolete":false,"parents":["HP:0011526"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Failure of ligamentous and muscular structures of the ankle to maintain normal joint alignment during movement, resulting in excessive motion that causes manifestations such as subjective or objective feeling of clunking/clicking in the ankle with movement, ankle 'giving way' or sensation of ankle dislocating.","id":"HP:0020309","name":"Ankle instability","obsolete":false,"parents":["HP:0034674"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of retinal venules as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion.","id":"HP:0020310","name":"Retinal phlebitis","obsolete":false,"parents":["HP:0025188"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Chronic hypoperfusion due to large vessel disease e.g. carotid artery stenosis, Takayasu disease. Typically presents dilated veins, low retinal arterial pressure, peripheral microaneurysms, ocular hypotension and may lead to iris neovascularisation. Patients may have postural hypotension.","id":"HP:0020311","name":"Ophthalmic artery hypoperfusion","obsolete":false,"parents":["HP:0000630"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Localized hyperpigmented areas, in the context of subretinal scar tissue, as seen after subretinal neovascularisation.","id":"HP:0020312","name":"Focal hyperpigmented area associated with subretinal scar tissue","obsolete":false,"parents":["HP:0011512"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Well-demarcated areas of the fundus, with relative reduction in pigment, with respect to the rest of the fundus.","id":"HP:0020313","name":"Discrete fundus hypopigmentation","obsolete":false,"parents":["HP:0007894"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A macular pseudohole is a partial-thickness gap in a normal-thickness fovea, located in the center of the macula.","id":"HP:0020314","name":"Macular pseudohole","obsolete":false,"parents":["HP:0001103"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A lamellar macular hole is a structural abnormality of the macula, characterized by a partial-thickness gap in a thinner fovea, located in the center of the macula.","id":"HP:0020315","name":"Lamellar macular hole","obsolete":false,"parents":["HP:0001103"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A small, sac-like aneurysm (outpouching) of the middle cerebral artery (MCA). MCA berry aneurysms may occur at the MCA bifurcation, on the anterior communicant artery, the anterior cerebral artery, the internal carotid artery, or on the posterior communicant artery.","id":"HP:0020316","name":"Middle cerebral artery berry aneurysm","obsolete":false,"parents":["HP:0007029"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of an artery that originates from the abdominal aorta.","id":"HP:0020317","name":"Abnormal abdominal aorta branch artery morphology","obsolete":false,"parents":["HP:0011004"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Blockage of the posterior circumflex humeral artery (PCHA), which arises from the third part of the axillary artery and supplies the shoulder joint and a number of its associated muscles. The lesion can be ascertained angiographically, whereby dye is injected both with patient's humerus at the side of the body and again with shoulder held in abduction and external rotation. Test is positive if there is evidence of PCHA occlusion with arm in abduction and external rotation but artery is patent when arm is held at the side.","id":"HP:0020318","name":"Posterior humeral circumflex artery occlusion","obsolete":false,"parents":["HP:0011004"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A lack of smooth, physiological alignment or movement between the scapula (shoulder blade) and the posterior thoracic wall (the rib cage). The scapulothoracic joint is unique, as it lacks true synovial articulation and is dynamically controlled through surrounding muscular contractions. The scapula glides on the posterior thorax covered with muscle layers rather than a cartilaginous surface. This feature can be ascertained by radiography or CT scan of the scapula showing incongruity of the scapulothoracic space.","id":"HP:0020319","name":"Scapulothoracic incongruity","obsolete":false,"parents":["HP:0000782"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tear of the latissimus dorsi (LD). Injury to the LD can occur at various locations, from the tendon to the muscle belly. The LD is a broad, flat muscle occupying most of the lower posterior thorax. The muscle's primary function is to move the upper extremity, but it is also considered an accessory muscle of respiration.","id":"HP:0020320","name":"Latissimus dorsi rupture","obsolete":false,"parents":["HP:0009127"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Degeneration and resorption of the distal part of the clavicle near the acromioclavicular (AC) joint. Distal clavicular osteolysis (DCO) is an atypical injury occurring most often in athletes and weight lifters, specifically those who perform repetitive overhead movements. DCO results from repetitive excess load to the AC joint, typically through horizontal adduction, adduction, internal rotation, and forward/lateral flexion of the shoulder, such as bench pressing or overhead lifting. Imaging (AP clavicle and/or Zanca view of the AC joint) of DCO often demonstrates microcysts, loss of subchondral bone detail, and osteolysis of the distal clavicle.","id":"HP:0020321","name":"Distal clavicular osteolysis","obsolete":false,"parents":["HP:0000889"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormal phenotypic feature observed in a biospecimen derived from breast tissue.","id":"HP:0020322","name":"Abnormal breast-tissue biospecimen","obsolete":false,"parents":["HP:0020228"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal expression of an antigen (marker) by cells located in breast tissue.","id":"HP:0020323","name":"Abnormal breast-tissue cellular antigen expression","obsolete":false,"parents":["HP:0020322"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased level of human epidermal growth factor receptor 2 (HER2) expression in breast tissue.","id":"HP:0020324","name":"Increased breast-tissue HER2 expression","obsolete":false,"parents":["HP:0020323"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"HER2 positive breast tissue"}]} +{"alt_ids":[],"definition":"Increased level of estrogen receptor expression in breast tissue.","id":"HP:0020325","name":"Increased breast-tissue estrogen receptor expression","obsolete":false,"parents":["HP:0020323"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Estrogen receptor positive in breast"}]} +{"alt_ids":[],"definition":null,"id":"HP:0020326","name":"Increased breast-tissue progesterone receptor expression","obsolete":false,"parents":["HP:0020323"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any phenotypic abnormality within cells located in breast tissue.","id":"HP:0020327","name":"Abnormal breast-tissue cellular finding","obsolete":false,"parents":["HP:0020322"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal (increased) proliferation of epithelial cells in a mammary duct. Intraductal papilloma is a benign tumor found within breast ducts. The abnormal proliferation of ductal epithelial cells causes growth. A solitary intraductal papilloma is usually found centrally posterior to the nipple, affecting the central duct.","id":"HP:0020328","name":"Mammary ductal epithelial cell hyperplasia","obsolete":false,"parents":["HP:0020327"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A biopsy finding in breast tissue of enlarged epithelial cells with abundant granular eosinophilic cytoplasm that can show apical snouting. Metaplastic apocrine cells within the breast are similar to normal axillary, areolar and perineal apocrine cells, having apocrine secretions and identical staining reactions. One of the reasons, however, that these are often not regarded as normal components is that examples of gradual metaplastic change from the normal cuboidal epithelium can be seen and cells with intermediate features can also be discerned on careful examination, suggesting that these are true metaplasia.","id":"HP:0020329","name":"Mammary ductal apocrine metaplasia","obsolete":false,"parents":["HP:0020327"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of inorganic anion in the blood circulation.","id":"HP:0020330","name":"Abnormal circulating inorganic anion concentration","obsolete":false,"parents":["HP:0003111"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Unremitting, positive visual phenomena, present in the entire visual field and characterized by uncountable tiny flickering dots interposed between the person's vision and the background. The dots are said to resemble static and are typically black and white but can also be colored, flashing, or transparent. In addition to the static, or snow, patients can experience additional visual symptoms of either direct neurological origin, such as palinopsia, photophobia, and nyctalopia (i.e., impaired night vision), or that arise from the optic apparatus.","id":"HP:0020331","name":"Blue-field entoptic phenomenon","obsolete":false,"parents":["HP:6001103"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Visual snow"}]} +{"alt_ids":[],"definition":"A phosphene is the perception of light without light actually entering the eye, for instance caused by pressure applied to the closed eyes.","id":"HP:0020332","name":"Phosphene","obsolete":false,"parents":["HP:6001103"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Palinopsia refers to visual images that persist despite removal of the eliciting object; plainopsia presents as persistent afterimages of stationary objects or trailing of images behind moving objects.","id":"HP:0020333","name":"Palinopsia","obsolete":false,"parents":["HP:0000504"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of function test in which the examiner uses one hand to apply a posterior to anterior force is directly over the scapula and the anterior chest wall is stabilized with the other hand. Test is positive if this scapular stabilization allows for increased shoulder flexion compared to when no stabilization is applied.","id":"HP:0020334","name":"Positive scapular compression test","obsolete":false,"parents":["HP:0025823"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive scapular assistance test"}]} +{"alt_ids":[],"definition":"Injury with partial or complete tear of the pectoralis major tendon, muscle, or myotendinous junction.","id":"HP:0020335","name":"Pectoralis major tear","obsolete":false,"parents":["HP:0011957"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Pectoralis major rupture"}]} +{"alt_ids":[],"definition":"The amount of 18-oxocortisol in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0020336","name":"Increased urinary 18-oxocortisol level","obsolete":false,"parents":["HP:0012029"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of 18-hydroxycortisol in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0020337","name":"Increased urinary 18-hydroxycortisol level","obsolete":false,"parents":["HP:0012029"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Malignant melanotic nerve sheath tumors (MMNSTs) are uncommon pigmented tumors of Schwann cell origin, most often found along the spinal nerves. MMNSTs were formerly known as melanotic schwannoma. Although MMNSTs can occur along cranial nerves, they tend to grow along the dorsal spinal nerve roots, and patients often present with indolent pain, weakness, or paresthesia along a corresponding dermatome. On imaging, spinal MMNSTs generally appear similar to the appearance presented in the current case: intradural, extramedullary tumors. In the spine, the tumors typically grow along spinal nerve roots, sometimes assuming a dumbbell configuration if they extend through a foramen. Tumors demonstrate enhancement on CT and are FDG-avid on PET.","id":"HP:0020338","name":"Malignant melanotic nerve sheath tumor","obsolete":false,"parents":["HP:0030448"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased proportion of mucosal-associated invariant T (MAIT) cells among peripheral blood T lymphocytes, above the upper reference limit for age. MAIT cells are innate-like T cells that recognise riboflavin metabolite antigens presented by MR1.","id":"HP:0020339","name":"Increased mucosal-associated invariant T cell proportion","obsolete":false,"parents":["HP:0020340"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated MAIT cell proportion"},{"scope":"EXACT","text":"Increased MAIT cell frequency"}]} +{"alt_ids":[],"definition":"An increased or decreased proportion of mucosal-associated invariant T (MAIT) cells among peripheral blood T lymphocytes, above the upper reference limit for age. MAIT cells are innate-like T cells that recognise riboflavin metabolite antigens presented by MR1.","id":"HP:0020340","name":"Abnormal mucosal-associated invariant T cell proportion","obsolete":false,"parents":["HP:0025540"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0020341","name":"Unusual periodontitis","obsolete":false,"parents":["HP:5210280"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0020342","name":"Unusual stomatitis","obsolete":false,"parents":["HP:0010280","HP:5210280"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual infectious stomatitis"},{"scope":"EXACT","text":"Unusual oral mucosal infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infection of the pharynx, as manifested by recurrent or severe episodes of pharyngitis.","id":"HP:0020343","name":"Unusual pharyngitis","obsolete":false,"parents":["HP:0025439","HP:5210121"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the typical ability to voluntarily generate, maintain, or experience mental images representing sensory properties of objects or events without a direct external stimulus.","id":"HP:0020344","name":"Abnormal mental imagery","obsolete":false,"parents":["HP:0025792"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of mental imagery"},{"scope":"EXACT","text":"Altered mental imagery"}]} +{"alt_ids":[],"definition":"Absence or near-absence of voluntary visual mental imagery, such that an individual is unable to intentionally generate visual images in the mind.","id":"HP:0020345","name":"Aphantasia","obsolete":false,"parents":["HP:0020344"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Exceptionally vivid voluntary visual mental imagery, in which internally generated images are experienced as vivid, despite intact reality testing and the absence of sensory hallucinations.","id":"HP:0020346","name":"Hyperphantasia","obsolete":false,"parents":["HP:0020344"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal concentration of a monosaccharide in the blood circulation.","id":"HP:0020347","name":"Abnormal circulating monosaccharide concentration","obsolete":false,"parents":["HP:0011013"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal concentration of a disaccharide in the blood circulation.","id":"HP:0020348","name":"Abnormal circulating disaccharide concentration","obsolete":false,"parents":["HP:0011013"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal concentration of a sugar alcohol in the blood circulation.","id":"HP:0020349","name":"Abnormal circulating sugar alcohol concentration","obsolete":false,"parents":["HP:0011013"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of one or more vitamins is outside the reference range.","id":"HP:0020350","name":"Abnormal circulating vitamin concentration","obsolete":false,"parents":["HP:0032180"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of folate or one of its metabolites in the cerebrospinal fluid (CSF) is outside the limits of normal.","id":"HP:0020351","name":"Abnormal CSF folate concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lisfranc injuries refer to bony or ligamentous compromise of the tarsometatarsal and intercuneiform joint complex and include a spectrum of injuries ranging from a stable, partial sprain to a grossly displaced and unstable fracture or fracture-dislocation of the midfoot. Foot x-ray shows either widening of the space between the 1st and 2nd metatarsal to over 2mm at the base, dorsal displacement of the base of the 1st or 2nd metatarsal, discontinuity of a line drawn from the medial base of the 2nd metatarsal to the medial side of the medial cuneiform, irregularity between the medial side of the 5th metatarsal base and the medial side of the cuboid, or disruption of the line connecting the medial aspect of the navicular bone to the medial cuneiform.","id":"HP:0020352","name":"Lisfranc injury","obsolete":false,"parents":["HP:0001832"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lisfranc fracture-dislocation"}]} +{"alt_ids":[],"definition":"A functional anomaly of one or more teeth.","id":"HP:0020354","name":"Abnormal dental physiology","obsolete":false,"parents":["HP:0031815"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Dental hypermobility is the loosening or excessive movement of a tooth within its socket beyond its normal physiological limits.","id":"HP:0020355","name":"Dental hypermobility","obsolete":false,"parents":["HP:0020354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the chromatin. Human autoantibodies that bind to chromatin targets can be divided into those that recognize dsDNA, protein components of chromatin (i.e., histones, HMG proteins), mononucleosomes, or macromolecular components of nucleosomes as represented by low salt extracted nucleosomes (core particle).","id":"HP:0020356","name":"Antichromatin antibody positivity","obsolete":false,"parents":["HP:0003493"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A squamous cell carcinoma that arises arising from the squamous mucosal epithelium of the upper aerodigestive tract (the oral cavity, pharynx (naso-, oro-, and hypopharynx), and larynx.","id":"HP:0020357","name":"Head and neck squamous cell carcinoma","obsolete":false,"parents":["HP:0012288"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of Cyclospora cayetanensis oocysts in a stool specimen by microscopy.","id":"HP:0020358","name":"Positive stool Cyclospora cayetanensis oocyst test","obsolete":false,"parents":["HP:0034866"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that are directed exclusively (or predominantly) against nucleosomes or subnucleosomal structures, consisting of DNA plus core histones.","id":"HP:0020359","name":"Anti-nucleosome antibody positivity","obsolete":false,"parents":["HP:0020356"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of insulin-like growth factor binding protein 1 in the blood circulation is below the lower limit of normal.","id":"HP:0020360","name":"Decreased circulating insulin-like growth factor binding protein 1 concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the cecum, which is the proximal blind pouch of the ascending colon, is located at the ileocecal junction in the right iliac fossa.","id":"HP:0025002","name":"Abnormal cecum morphology","obsolete":false,"parents":["HP:0002250"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal caecum morphology"}]} +{"alt_ids":[],"definition":"Flail chest is a physical exam finding that can be present in the setting of chest wall trauma or injury. When multiple adjacent ribs are fractured in 2 or more places, this can create a focal \"free-floating\" segment of the chest wall that moves independently from the rest of the chest.","id":"HP:0025003","name":"Flail chest","obsolete":false,"parents":["HP:0002793"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Osteoarthritis of the metatarsophalangeal joint of the first toe.","id":"HP:0025004","name":"Hallux rigidus","obsolete":false,"parents":["HP:0001844"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Arthritis of the big toe"}]} +{"alt_ids":[],"definition":"Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself.","id":"HP:0025005","name":"Thickening of glomerular capillary wall","obsolete":false,"parents":["HP:0025006"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the capillary blood vessels in the renal glomerulus.","id":"HP:0025006","name":"Abnormal glomerular capillary morphology","obsolete":false,"parents":["HP:0000095"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormalities of the glomerular capillary wall"}]} +{"alt_ids":[],"definition":"An abnormal anatomic position of the fovea.","id":"HP:0025007","name":"Ectopic fovea","obsolete":false,"parents":["HP:0000493"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Ectopic macula"}]} +{"alt_ids":[],"definition":"Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree.","id":"HP:0025008","name":"Tracheal tug on inspiration","obsolete":false,"parents":["HP:0002795"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards.","id":"HP:0025009","name":"Forward slanting upper incisors","obsolete":false,"parents":["HP:0011062"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Forward directed upper incisors"},{"scope":"EXACT","text":"Proclination of the upper incisors"},{"scope":"EXACT","text":"Protruding upper incisors"}]} +{"alt_ids":[],"definition":"A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells in the fovea.","id":"HP:0025010","name":"Foveal atrophy","obsolete":false,"parents":["HP:0000493"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose.","id":"HP:0025011","name":"Pyriform aperture stenosis","obsolete":false,"parents":["HP:0005105"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations.","id":"HP:0025012","name":"Status cribrosum","obsolete":false,"parents":["HP:0002134"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of rigidity that is manifested by an exaggerated extensor posture of all extremities.","id":"HP:0025013","name":"Decerebrate rigidity","obsolete":false,"parents":["HP:0002063"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decerebrate posturing"}]} +{"alt_ids":[],"definition":"Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray.","id":"HP:0025014","name":"Subcutaneous spheroids","obsolete":false,"parents":["HP:0001482"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0025015","name":"Abnormal vascular morphology","obsolete":false,"parents":["HP:0002597","HP:0030680"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.","id":"HP:0025016","name":"Abnormal capillary morphology","obsolete":false,"parents":["HP:0033353"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises).","id":"HP:0025017","name":"Capillary fragility","obsolete":false,"parents":["HP:0025018"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.","id":"HP:0025018","name":"Abnormal capillary physiology","obsolete":false,"parents":["HP:0030163"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Sudden breakage of an artery leading to leakage of blood from the circulation.","id":"HP:0025019","name":"Arterial rupture","obsolete":false,"parents":["HP:0025323"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of prostate-specific antigen in the blood circulation is above the upper limit of normal.","id":"HP:0025020","name":"Elevated circulating prostate-specific antigen concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated prostate-specific antigen concentration"},{"scope":"EXACT","text":"Elevated prostate-specific antigen level"},{"scope":"EXACT","text":"Elevated prostate-specific antigen level in blood"},{"scope":"EXACT","text":"Increased prostate-specific antigen concentration"},{"scope":"EXACT","text":"Increased prostate-specific antigen level"},{"scope":"EXACT","text":"Increased prostate-specific antigen level in blood"}]} +{"alt_ids":[],"definition":"A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.","id":"HP:0025021","name":"Abnormal erythrocyte sedimentation rate","obsolete":false,"parents":["HP:0001939"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal ESR"},{"scope":"EXACT","text":"Abnormal Westergren sedimentation rate"}]} +{"alt_ids":[],"definition":"A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.","id":"HP:0025022","name":"Decreased erythrocyte sedimentation rate","obsolete":false,"parents":["HP:0025021"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased ESR"},{"scope":"EXACT","text":"Low ESR"}]} +{"alt_ids":[],"definition":"A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum.","id":"HP:0025023","name":"Rectal atresia","obsolete":false,"parents":["HP:0002034","HP:0011100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atresia of the rectum"}]} +{"alt_ids":[],"definition":"An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum.","id":"HP:0025024","name":"Megarectum","obsolete":false,"parents":["HP:0002034"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening.","id":"HP:0025025","name":"Rectovestibular fistula","obsolete":false,"parents":["HP:0100590"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vestibular fistula"}]} +{"alt_ids":[],"definition":"Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract.","id":"HP:0025026","name":"H-type rectovestibular fistula","obsolete":false,"parents":["HP:0025025"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin.","id":"HP:0025027","name":"Osteoma cutis","obsolete":false,"parents":["HP:0200036"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cutaneous osteosis"},{"scope":"EXACT","text":"Miliary osteoma"},{"scope":"EXACT","text":"Osteomatosis"}]} +{"alt_ids":[],"definition":"A structural anomaly of nerves of the enteric nervous system.","id":"HP:0025028","name":"Abnormal enteric nervous system morphology","obsolete":false,"parents":["HP:0002242","HP:0012331"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of enteric nervous system morphology"}]} +{"alt_ids":[],"definition":null,"id":"HP:0025029","name":"Abnormal enteric neuron morphology","obsolete":false,"parents":["HP:0025028"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of enteric neuron morphology"}]} +{"alt_ids":[],"definition":"Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons.","id":"HP:0025030","name":"Enteric neuronal degeneration","obsolete":false,"parents":["HP:0025029"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Degenerative enteric neuropathy"}]} +{"alt_ids":[],"definition":null,"id":"HP:0025031","name":"Abnormality of the digestive system","obsolete":false,"parents":["HP:0000118"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional anomaly of the digestive system.","id":"HP:0025032","name":"Abnormality of digestive system physiology","obsolete":false,"parents":["HP:0025031"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the digestive system.","id":"HP:0025033","name":"Abnormal digestive system morphology","obsolete":false,"parents":["HP:0025031"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of digestive system morphology"}]} +{"alt_ids":[],"definition":"Abnormal form of the progenitor cells committed to the erythroid lineage.","id":"HP:0025034","name":"Abnormal morphology of erythroid progenitor cell","obsolete":false,"parents":["HP:0012130"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers.","id":"HP:0025035","name":"Abnormal proerythroblast morphology","obsolete":false,"parents":["HP:0012130"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of radial ray deficiency characterized by short distal radius. The distal radial epiphysis is present but delayed in appearance. The growth of the distal radial epiphysis is decreased causing a normal appearing but short radius. There is little radial deviation of the hand due to adequate radial carpal support. The radius has normal proximal epiphyseal growth. Thumb hypoplasia is almost always present.","id":"HP:0025036","name":"Type I radial ray deficiency","obsolete":false,"parents":["HP:0006433"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short distal radius"}]} +{"alt_ids":[],"definition":"Focal proliferation of glial cells in the hypothalamus.","id":"HP:0025037","name":"Hypothalamic gliosis","obsolete":false,"parents":["HP:0002171"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins.","id":"HP:0025038","name":"Intratesticular abscess","obsolete":false,"parents":["HP:0000035","HP:0025615"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Testicular abscess"}]} +{"alt_ids":[],"definition":"Swelling within the basal ganglia due to the accumulation of fluid.","id":"HP:0025039","name":"Basal ganglia edema","obsolete":false,"parents":["HP:0002134"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Edema of the basal ganglia"},{"scope":"EXACT","text":"Oedema of the basal ganglia"}]} +{"alt_ids":[],"definition":"Swelling within the thalamus due to the accumulation of fluid.","id":"HP:0025040","name":"Thalamic edema","obsolete":false,"parents":["HP:0010663"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Edema of the thalamus"},{"scope":"EXACT","text":"Oedema of the thalamus"}]} +{"alt_ids":[],"definition":"Calcium deposition in the thalamus.","id":"HP:0025041","name":"Thalamic calcification","obsolete":false,"parents":["HP:0010663"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery.","id":"HP:0025042","name":"Abnormality of mesenteric lymph nodes","obsolete":false,"parents":["HP:0002733"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increase in size of one or more mesenteric lymph nodes.","id":"HP:0025043","name":"Enlarged mesenteric lymph node","obsolete":false,"parents":["HP:0025042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity.","id":"HP:0025044","name":"Lung abscess","obsolete":false,"parents":["HP:0011947","HP:0025615"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pulmonary abscess"}]} +{"alt_ids":[],"definition":"A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).","id":"HP:0025045","name":"Abnormal brain lactate level by MRS","obsolete":false,"parents":["HP:0012705"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal lactate level by magnetic resonance spectroscopy"}]} +{"alt_ids":[],"definition":"A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).","id":"HP:0025046","name":"Reduced brain lactate level by MRS","obsolete":false,"parents":["HP:0025045"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced brain lactate level by magnetic resonance spectroscopy"}]} +{"alt_ids":[],"definition":"A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).","id":"HP:0025047","name":"Abnormal brain choline level by MRS","obsolete":false,"parents":["HP:0012705"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal brain choline level by magnetic resonance spectroscopy"}]} +{"alt_ids":[],"definition":"An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).","id":"HP:0025048","name":"Reduced brain choline level by MRS","obsolete":false,"parents":["HP:0025047"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced brain choline level by magnetic resonance spectroscopy"}]} +{"alt_ids":[],"definition":null,"id":"HP:0025049","name":"Abnormal brain creatine level by MRS","obsolete":false,"parents":["HP:0012705"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal brain creatine level by magnetic resonance spectroscopy"}]} +{"alt_ids":[],"definition":"An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).","id":"HP:0025050","name":"Elevated brain creatine level by MRS","obsolete":false,"parents":["HP:0025049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated brain creatine level by magnetic resonance spectroscopy"}]} +{"alt_ids":[],"definition":"A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).","id":"HP:0025051","name":"Reduced brain creatine level by MRS","obsolete":false,"parents":["HP:0025049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low brain creatine phosphate"},{"scope":"EXACT","text":"Reduced brain creatine level by magnetic resonance spectroscopy"}]} +{"alt_ids":[],"definition":"A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).","id":"HP:0025052","name":"Abnormal brain N-acetyl aspartate level by MRS","obsolete":false,"parents":["HP:0012705"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal brain N-acetyl aspartate level by magnetic resonance spectroscopy"}]} +{"alt_ids":[],"definition":"An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).","id":"HP:0025053","name":"Elevated brain N-acetyl aspartate level by MRS","obsolete":false,"parents":["HP:0025052"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated brain N-acetyl aspartate level by magnetic resonance spectroscopy"}]} +{"alt_ids":[],"definition":"A type of radial ray deficiency characterized by a hypoplastic radius. The radius has both proximal and distal epiphyses but growth is defective in both. This type is essentially a radius in miniature. Growth of the radius proceeds at a decreased rate.","id":"HP:0025054","name":"Type II radial ray deficiency","obsolete":false,"parents":["HP:0006433"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of radial ray deficiency characterized by partial absence of the radius. The radius is partially absent. The defect can be in the proximal, middle, or distal third. All have been reported , but the most frequent is the absence of the distal one or two thirds. The hand is radially displaced . The ulna is thickened, shortened , and bowed radially, and the wrist is unsupported.","id":"HP:0025055","name":"Type III radial ray deficiency","obsolete":false,"parents":["HP:0006433"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of radial ray deficiency characterized by total absence of the radius. This represents the most common type of radial deficiency. The hand is unsupported and is usually severely radially displaced.","id":"HP:0025056","name":"Type IV radial ray deficiency","obsolete":false,"parents":["HP:0006433"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell.","id":"HP:0025057","name":"Abnormal olfactory lobe morphology","obsolete":false,"parents":["HP:0100547"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of olfactory lobe morphology"}]} +{"alt_ids":[],"definition":"Partial or complete wasting (loss) of hypothalamus tissue that was once present.","id":"HP:0025058","name":"Hypothalamic atrophy","obsolete":false,"parents":["HP:0012286"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atrophy of the hypothalamus"}]} +{"alt_ids":[],"definition":"A circumscribed area of pus or necrotic debris in the parenchyma of the spleen.","id":"HP:0025059","name":"Splenic abscess","obsolete":false,"parents":["HP:0025408","HP:0032166"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Multiple abscess lesions in the spleen.","id":"HP:0025060","name":"Multifocal splenic abscess","obsolete":false,"parents":["HP:0025059"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multilocular splenic abscess"}]} +{"alt_ids":[],"definition":"Single (solitary) abscess in the spleen.","id":"HP:0025061","name":"Unifocal splenic abscess","obsolete":false,"parents":["HP:0025059"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Solitary splenic abscess"},{"scope":"EXACT","text":"Unilocular splenic abscess"}]} +{"alt_ids":[],"definition":"The practice of eating earth or soil-like substrates such as clay or chalk.","id":"HP:0025062","name":"Geophagia","obsolete":false,"parents":["HP:0011856"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Geophagy"}]} +{"alt_ids":[],"definition":"The anterior abdominal wall is sunken and presents a concave rather than a convex contour.","id":"HP:0025063","name":"Scaphoid abdomen","obsolete":false,"parents":["HP:0011458"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bleeding in the thalamus.","id":"HP:0025064","name":"Thalamic hemorrhage","obsolete":false,"parents":["HP:0010663"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters.","id":"HP:0025065","name":"Abnormal mean corpuscular volume","obsolete":false,"parents":["HP:0001877"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal MCV"},{"scope":"EXACT","text":"Abnormal erythrocyte volume"}]} +{"alt_ids":[],"definition":"A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters).","id":"HP:0025066","name":"Decreased mean corpuscular volume","obsolete":false,"parents":["HP:0025065"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased MCV"},{"scope":"EXACT","text":"Microcytosis"},{"scope":"EXACT","text":"Reduced erythrocyte volume"}]} +{"alt_ids":[],"definition":"Repeated bouts of sepsis, defined as life-threatening organ dysfunction caused by a dysregulated host response to infection.","id":"HP:0025067","name":"Recurrent sepsis","obsolete":false,"parents":["HP:0100806"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort.","id":"HP:0025068","name":"Incomitant strabismus","obsolete":false,"parents":["HP:0000486"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing.","id":"HP:0025069","name":"Concomitant strabismus","obsolete":false,"parents":["HP:0000486"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Comitant strabismus"}]} +{"alt_ids":[],"definition":"An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3.","id":"HP:0025070","name":"Abnormal U wave","obsolete":false,"parents":["HP:0003115"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves.","id":"HP:0025071","name":"U wave inversion","obsolete":false,"parents":["HP:0025070"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased amplitude of the U wave, defined as an amplitude greater than 1-2mm or 25 percent of the height of the T wave.","id":"HP:0025072","name":"Prominent U wave","obsolete":false,"parents":["HP:0025070"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased U wave amplitude"}]} +{"alt_ids":[],"definition":"U wave inversion that is induced by exercise stress testing.","id":"HP:0025073","name":"Exercise-induced U wave inversion","obsolete":false,"parents":["HP:0025071"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram.","id":"HP:0025074","name":"Abnormal QRS complex","obsolete":false,"parents":["HP:0003115"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm).","id":"HP:0025075","name":"Increased QRS voltage","obsolete":false,"parents":["HP:0025076"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal amplitude of the QRS complex of the electrocardiogram (EKG).","id":"HP:0025076","name":"Abnormal QRS voltage","obsolete":false,"parents":["HP:0025074"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm.","id":"HP:0025077","name":"Decreased QRS voltage","obsolete":false,"parents":["HP:0025076"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The QRS complexes of the electrocardiogram alternate in height.","id":"HP:0025078","name":"Electrical alternans","obsolete":false,"parents":["HP:0025076"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas.","id":"HP:0025079","name":"Pancreatic abscess","obsolete":false,"parents":["HP:0012090","HP:0025615"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pancreas abscess"}]} +{"alt_ids":[],"definition":"A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei.","id":"HP:0025080","name":"Orthokeratotic hyperkeratosis","obsolete":false,"parents":["HP:0000962"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP.","id":"HP:0025081","name":"Darier's sign","obsolete":false,"parents":["HP:0001025"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils.","id":"HP:0025082","name":"Abnormal cutaneous elastic fiber morphology","obsolete":false,"parents":["HP:0011121"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal cutaneous elastic fibre morphology"}]} +{"alt_ids":[],"definition":"An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin.","id":"HP:0025083","name":"Elevated dermal desmosine content","obsolete":false,"parents":["HP:0034924"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule.","id":"HP:0025084","name":"Folliculitis","obsolete":false,"parents":["HP:0011123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Follicular pustule"},{"scope":"EXACT","text":"Hair follicle inflammation"}]} +{"alt_ids":[],"definition":"Passage of many stools containing blood.","id":"HP:0025085","name":"Bloody diarrhea","obsolete":false,"parents":["HP:0002014"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Blood in stool"},{"scope":"EXACT","text":"Bloody bowel movement"},{"scope":"EXACT","text":"Bloody diarrhea"},{"scope":"BROAD","text":"Bloody stool"}]} +{"alt_ids":[],"definition":"Passage of many stools containing blood and mucus.","id":"HP:0025086","name":"Bloody mucoid diarrhea","obsolete":false,"parents":["HP:0025085"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Area of skin requiring an increased amount of time to return to its original shape after being stretched.","id":"HP:0025087","name":"Delayed recoil upon stretching of skin","obsolete":false,"parents":["HP:0008067"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth.","id":"HP:0025088","name":"Onychomadesis","obsolete":false,"parents":["HP:0001806"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Vomiting of material that is of fecal origin.","id":"HP:0025089","name":"Feculent vomiting","obsolete":false,"parents":["HP:0002013"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Faecal vomiting"},{"scope":"EXACT","text":"Fecal vomiting"},{"scope":"EXACT","text":"Stercoraceous vomiting"},{"scope":"EXACT","text":"Vomiting faecal matter"},{"scope":"EXACT","text":"Vomiting fecal matter"}]} +{"alt_ids":[],"definition":"A structural anomaly of the mucous lining of the large intestine.","id":"HP:0025090","name":"Abnormal large intestinal mucosa morphology","obsolete":false,"parents":["HP:0002250"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The wrist sign is positive when the tip of the thumb covers the entire fingernail of the fifth finger when wrapped around the contralateral wrist.","id":"HP:0025091","name":"Wrist sign","obsolete":false,"parents":["HP:0100807"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).","id":"HP:0025092","name":"Epidermal acanthosis","obsolete":false,"parents":["HP:0011124"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acanthosis"},{"scope":"EXACT","text":"Acanthotic epidermis"},{"scope":"RELATED","text":"Epidermal hyperplasia"},{"scope":"EXACT","text":"Thickening of upper layer of skin"}]} +{"alt_ids":[],"definition":"A retinal exudate in the area surrounding the optic nerve head.","id":"HP:0025093","name":"Peripapillary exudate","obsolete":false,"parents":["HP:0001147"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Peripapillary exudation"}]} +{"alt_ids":[],"definition":"A scar with a disc-like shape localized in the macula.","id":"HP:0025094","name":"Disciform macular scar","obsolete":false,"parents":["HP:0200056"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A sudden violent, spasmodic, audible expiration of breath through the nose and mouth.","id":"HP:0025095","name":"Sneeze","obsolete":false,"parents":["HP:0025142"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Unprovoked explosive pathological sneezing.","id":"HP:0025096","name":"Paroxysmal sneezing","obsolete":false,"parents":["HP:0025095"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Marked, involuntary jerking of the eyelids.","id":"HP:0025097","name":"Eyelid myoclonus","obsolete":false,"parents":["HP:0001336"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blepharoclonus"},{"scope":"RELATED","text":"Eyelid myoclonia"}]} +{"alt_ids":[],"definition":"Structural abnormality of the hypothalamus related to defective development.","id":"HP:0025098","name":"Dysgenesis of the hypothalamus","obsolete":false,"parents":["HP:0012286"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypothalamic dysgenesis"}]} +{"alt_ids":[],"definition":"Structural abnormality of the thalamus related to defective development.","id":"HP:0025099","name":"Dysgenesis of the thalamus","obsolete":false,"parents":["HP:0010663"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thalamic dysgenesis"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the hippocampus,","id":"HP:0025100","name":"Abnormal hippocampus morphology","obsolete":false,"parents":["HP:0007343"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal morphology of the hippocampus"},{"scope":"EXACT","text":"Abnormality of hippocampus morphology"}]} +{"alt_ids":[],"definition":"Structural abnormality of the hippocampus related to defective development.","id":"HP:0025101","name":"Dysgenesis of the hippocampus","obsolete":false,"parents":["HP:0025100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hippocampal dysgenesis"}]} +{"alt_ids":[],"definition":"Structural abnormality of the basal ganglia related to defective development.","id":"HP:0025102","name":"Dysgenesis of the basal ganglia","obsolete":false,"parents":["HP:0002134"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Basal ganglia dysgenesis"}]} +{"alt_ids":[],"definition":"A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated).","id":"HP:0025103","name":"Umbilicated nodule","obsolete":false,"parents":["HP:0200036"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules).","id":"HP:0025104","name":"Capillary malformation","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anemic spots.","id":"HP:0025105","name":"Nevus anemicus","obsolete":false,"parents":["HP:0025104"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Naevus anaemicus"}]} +{"alt_ids":[],"definition":"A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life.","id":"HP:0025106","name":"Nevus roseus","obsolete":false,"parents":["HP:0025104"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible.","id":"HP:0025107","name":"Cutis marmorata telangiectatica congenita","obsolete":false,"parents":["HP:0025104"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis.","id":"HP:0025108","name":"Angioma serpentinum","obsolete":false,"parents":["HP:0025104"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate.","id":"HP:0025109","name":"Reduced red cell pyruvate kinase level","obsolete":false,"parents":["HP:0030272"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced erythrocyte pyruvate kinase activity"}]} +{"alt_ids":[],"definition":"Large yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula, more specifically at the outer retinal level (RPE/photoreceptor).","id":"HP:0025110","name":"Placoid macular lesion","obsolete":false,"parents":["HP:0030500"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the crystalline lens in the eye known to be the result of a non-congenital condition, e.g., following surgical removal of the lens for cataracts or trauma.","id":"HP:0025111","name":"Acquired aphakia","obsolete":false,"parents":["HP:6001302"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased tolerance to sound.","id":"HP:0025112","name":"Auditory sensitivity","obsolete":false,"parents":["HP:5200058"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Noise sensitivity"}]} +{"alt_ids":[],"definition":"Misophonia is characterized by strong physiological, emotional, and behavioral reactions to auditory, visual, and/or kinesthetic stimuli of different nature regardless of their physical characteristics. These misophonic responses include anger, general discomfort, disgust, anxiety, and avoidance and escape behaviors.","id":"HP:0025113","name":"Misophonia","obsolete":false,"parents":["HP:5200060"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hypergranulosis is an increased thickness of the stratum granulosum.","id":"HP:0025114","name":"Hypergranulosis","obsolete":false,"parents":["HP:0011368"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant","id":"HP:0025115","name":"Civatte bodies","obsolete":false,"parents":["HP:0011124"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Colloid bodies"},{"scope":"EXACT","text":"Colloid bodies of Civatte"},{"scope":"EXACT","text":"Cytoid bodies"},{"scope":"EXACT","text":"Hyaline bodies"}]} +{"alt_ids":[],"definition":"An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.","id":"HP:0025116","name":"Fetal distress","obsolete":false,"parents":["HP:0034059"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foetal distress"}]} +{"alt_ids":[],"definition":"Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance.","id":"HP:0025117","name":"Rete ridge flattening","obsolete":false,"parents":["HP:0034767"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flattened rete pegs"},{"scope":"EXACT","text":"Flattened rete ridges"}]} +{"alt_ids":[],"definition":"Lightening or darkening of the lips from their usual coloring.","id":"HP:0025118","name":"Lip discoloration","obsolete":false,"parents":["HP:0032453"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An alteration of the color of the lip to take on a violet color. This term does not include cyanosis.","id":"HP:0025119","name":"Violet lip discoloration","obsolete":false,"parents":["HP:0025118"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of reverse T3 (3,3',5'-triiodothyronine or rT3) in the blood circulation is ouside of the limits of normal.","id":"HP:0025120","name":"Abnormal circulating reverse T3 concentration","obsolete":false,"parents":["HP:0031508"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0025121","name":"obsolete Simple partial occipital seizures","obsolete":true,"parents":[],"replaced_by":["HP:0011165"],"synonyms":[]} +{"alt_ids":[],"definition":"A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis.","id":"HP:0025122","name":"Sawtooth acanthosis","obsolete":false,"parents":["HP:0025092"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sawtoothed acanthosis"}]} +{"alt_ids":[],"definition":"Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks.","id":"HP:0025123","name":"White streaks/specks on enamel","obsolete":false,"parents":["HP:0011073"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma.","id":"HP:0025124","name":"Fragile teeth","obsolete":false,"parents":["HP:0006482"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enamel with tendency to chip"},{"scope":"EXACT","text":"Spontaneous tooth fracture"}]} +{"alt_ids":[],"definition":"White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white.","id":"HP:0025125","name":"White lesion of the oral mucosa","obsolete":false,"parents":["HP:0011830"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A corrugated white lesion of the oral mucosa that usually occurs on the lateral or ventral surfaces of the tongue and may have a shaggy or frayed appearance.","id":"HP:0025126","name":"Oral hairy leukoplakia","obsolete":false,"parents":["HP:0025125","HP:5210280"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EBV-associated oral hairy leukoplakia"},{"scope":"EXACT","text":"OHL"}]} +{"alt_ids":[],"definition":"A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color.","id":"HP:0025127","name":"Actinic keratosis","obsolete":false,"parents":["HP:0008069"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Solar keratosis"}]} +{"alt_ids":[],"definition":"An abnormally reduced amount of adipose tissue in the abdominal cavity.","id":"HP:0025128","name":"Reduced intraabdominal adipose tissue","obsolete":false,"parents":["HP:0040063"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the mucous lining of the small intestine.","id":"HP:0025129","name":"Abnormal small intestinal mucosa morphology","obsolete":false,"parents":["HP:0002244"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges.","id":"HP:0025130","name":"Decreased small intestinal mucosa lactase level","obsolete":false,"parents":["HP:0012379","HP:0025129"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lactase deficiency"}]} +{"alt_ids":[],"definition":"Enlargement of the soft tissues of one or more fingers.","id":"HP:0025131","name":"Finger swelling","obsolete":false,"parents":["HP:0001167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Swelling of fingers"},{"scope":"EXACT","text":"Swollen finger"},{"scope":"EXACT","text":"Swollen fingers"}]} +{"alt_ids":[],"definition":"A deviation from normal concentration of the hormone estrogen in the blood circulation.","id":"HP:0025132","name":"Abnormal circulating estrogen level","obsolete":false,"parents":["HP:0033799"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal estrogen level"},{"scope":"EXACT","text":"Abnormal oestrogen level"}]} +{"alt_ids":[],"definition":"A deviation from normal concentrations of estradiol in the circulation.","id":"HP:0025133","name":"Abnormal serum estradiol","obsolete":false,"parents":["HP:0025132"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevation above normal limits of the concentration of estradiol in the circulation.","id":"HP:0025134","name":"Increased serum estradiol","obsolete":false,"parents":["HP:0025133"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased estradiol level"},{"scope":"EXACT","text":"Increased serum oestradiol"}]} +{"alt_ids":[],"definition":"A deviation from normal concentration of estriol in the circulation.","id":"HP:0025135","name":"Abnormal serum estriol","obsolete":false,"parents":["HP:0025132"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevation above normal limits of estriol concentration in the circulation.","id":"HP:0025136","name":"Increased serum estriol","obsolete":false,"parents":["HP:0025135"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction below normal limits of estriol in the circulation.","id":"HP:0025137","name":"Decreased serum estriol","obsolete":false,"parents":["HP:0025135"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal concentration of circulating estrone.","id":"HP:0025138","name":"Abnormal serum estrone","obsolete":false,"parents":["HP:0025132"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevation above normal limits of the concentration of estrone in the circulation.","id":"HP:0025139","name":"Increased serum estrone","obsolete":false,"parents":["HP:0025138"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction below normal limits of the concentration of estrone in the circulation.","id":"HP:0025140","name":"Decreased serum estrone","obsolete":false,"parents":["HP:0025138"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Ectopic deposition of calcium salts found in the gingiva.","id":"HP:0025141","name":"Gingival calcification","obsolete":false,"parents":["HP:0000168","HP:0010766"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gingival calcifications"}]} +{"alt_ids":[],"definition":"A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.","id":"HP:0025142","name":"Constitutional symptom","obsolete":false,"parents":["HP:0000118"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A sudden sensation of feeling cold.","id":"HP:0025143","name":"Chills","obsolete":false,"parents":["HP:0025142"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chills"}]} +{"alt_ids":[],"definition":"Involuntary contraction or twitching of the muscles.","id":"HP:0025144","name":"Shivering","obsolete":false,"parents":["HP:0025142"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Shivering"},{"scope":"EXACT","text":"Shuddering"}]} +{"alt_ids":[],"definition":"Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever.","id":"HP:0025145","name":"Rigors","obsolete":false,"parents":["HP:0025143","HP:0025144"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rigours"}]} +{"alt_ids":[],"definition":"A nonspecific term denoting progressive loss of the retinal pigment epithelium (RPE) and/or neurosensory retinal cells within the fovea.","id":"HP:0025146","name":"Foveal degeneration","obsolete":false,"parents":["HP:0000493","HP:0000608"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An irregular grayish appearance of the macula, which is said to resemble beaten bronze or hammered metal.","id":"HP:0025147","name":"Beaten bronze macular sheen","obsolete":false,"parents":["HP:0008002"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Beaten metal macular appearance"},{"scope":"EXACT","text":"Beaten-bronze macular appearance"},{"scope":"EXACT","text":"Beaten-bronze macular sheen"}]} +{"alt_ids":[],"definition":"A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid).","id":"HP:0025148","name":"Dark choroid","obsolete":false,"parents":["HP:0000610","HP:0030604"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis.","id":"HP:0025149","name":"Atrophic muscularis propria","obsolete":false,"parents":["HP:0030935"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Autonomic visceral myopathy"},{"scope":"RELATED","text":"Degenerative enteric myopathy"}]} +{"alt_ids":[],"definition":"Sparse and small myenteric ganglia","id":"HP:0025150","name":"Hypoganglionosis","obsolete":false,"parents":["HP:0004362"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers.","id":"HP:0025151","name":"Ganglioneuromatosis","obsolete":false,"parents":["HP:0004362"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones.","id":"HP:0025152","name":"Poor visual behavior for age","obsolete":false,"parents":["HP:0000504"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal visual behavior for age"},{"scope":"EXACT","text":"Abnormal visual behaviour for age"}]} +{"alt_ids":[],"definition":"Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration.","id":"HP:0025153","name":"Transient","obsolete":false,"parents":["HP:0011008"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of biliary veins that serve as a collateral channel to the systemic circulation","id":"HP:0025154","name":"Portosystemic collateral veins","obsolete":false,"parents":["HP:0012440"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Collateral biliary circulation"},{"scope":"EXACT","text":"Collateral biliary veins"}]} +{"alt_ids":[],"definition":"A functional anomaly of the hepatobiliary system","id":"HP:0025155","name":"Abnormal hepatobiliary system physiology","obsolete":false,"parents":["HP:0025032"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status.","id":"HP:0025156","name":"Dependency on intravenous nutrition","obsolete":false,"parents":["HP:0025032"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dependency on IV nutrition"}]} +{"alt_ids":[],"definition":"An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group.","id":"HP:0025157","name":"Increased urinary sedoheptulose","obsolete":false,"parents":["HP:0031979"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.","id":"HP:0025158","name":"Hyperautofluorescent retinal lesion","obsolete":false,"parents":["HP:0030602"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Retinal lipofuscin accumulation"}]} +{"alt_ids":[],"definition":"Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.","id":"HP:0025159","name":"Hypoautofluorescent retinal lesion","obsolete":false,"parents":["HP:0030602"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypo-autofluorescent retinal lesion"}]} +{"alt_ids":[],"definition":"Temper tantrums are brief episodes of extreme, unpleasant, and sometimes aggressive behaviors in response to frustration or anger, which are a normal part of development in toddlers. Temper tantrums that occur more frequently in a given time and/or are more severe in symptomatology and/or longer in duration and/or inappropriate for the given age compared to a temper tantrum that naturally occurs as a part of the developmental process are classified as abnormal temper tantrums.","id":"HP:0025160","name":"Abnormal temper tantrums","obsolete":false,"parents":["HP:5200241"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Temper tantrums that occur more frequently compared to the temper tantrums that are a part of the normal developmental process.","id":"HP:0025161","name":"Frequent temper tantrums","obsolete":false,"parents":["HP:0025160"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Temper tantrums, which occur with more severe symptomatology compared to a temper tantrum that occurs as a part of normal developmental process.","id":"HP:0025162","name":"Severe temper tantrums","obsolete":false,"parents":["HP:0025160"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves.","id":"HP:0025163","name":"Abnormal optic chiasm morphology","obsolete":false,"parents":["HP:0000587"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of optic chiasm morphology"}]} +{"alt_ids":[],"definition":"An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods.","id":"HP:0025164","name":"Increased number of elastic fibers in the dermis","obsolete":false,"parents":["HP:0025082"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased number of elastic fibres in the dermis"}]} +{"alt_ids":[],"definition":"Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis).","id":"HP:0025165","name":"Clumping of elastic fibers in the dermis","obsolete":false,"parents":["HP:0025082"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Clumping of elastic fibres in the dermis"}]} +{"alt_ids":[],"definition":"An increase of the diameter of elastic fibers in the dermis.","id":"HP:0025166","name":"Thickened elastic fibers in the dermis","obsolete":false,"parents":["HP:0025082"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thickened elastic fibres in the dermis"}]} +{"alt_ids":[],"definition":"Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers.","id":"HP:0025167","name":"Fragmented elastic fibers in the dermis","obsolete":false,"parents":["HP:0025082"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmented elastic fibres in the dermis"}]} +{"alt_ids":[],"definition":"Abnormal function of the left ventricule during left ventricular relaxation and filling.","id":"HP:0025168","name":"Left ventricular diastolic dysfunction","obsolete":false,"parents":["HP:0005162"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent.","id":"HP:0025169","name":"Left ventricular systolic dysfunction","obsolete":false,"parents":["HP:0005162"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A central nervous system neoplasm with neuronal and, less consistently, glial differentiation.","id":"HP:0025170","name":"Neuronal/glioneuronal neoplasm of the central nervous system","obsolete":false,"parents":["HP:0030063","HP:0100006"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Glioneuronal tumor"},{"scope":"EXACT","text":"Glioneuronal tumour"},{"scope":"EXACT","text":"Neuronal and mixed neuronal-glial tumor"},{"scope":"EXACT","text":"Neuronal and mixed neuronal-glial tumour"},{"scope":"EXACT","text":"Neuronal/glioneuronal neoplasm of the CNS"}]} +{"alt_ids":[],"definition":"A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumor predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy.","id":"HP:0025171","name":"Rosette-forming glioneuronal tumor","obsolete":false,"parents":["HP:0025170"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rosette-forming glioneuronal neoplasm"},{"scope":"RELATED","text":"Rosette-forming glioneuronal tumor of the fourth ventricle"},{"scope":"RELATED","text":"Rosette-forming glioneuronal tumour of the fourth ventricle"}]} +{"alt_ids":[],"definition":"Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa.","id":"HP:0025172","name":"Smooth septal thickening on pulmonary HRCT","obsolete":false,"parents":["HP:0030879"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa.","id":"HP:0025173","name":"Nodular septal thickening on pulmonary HRCT","obsolete":false,"parents":["HP:0030879"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture.","id":"HP:0025174","name":"Irregular septal thickening on pulmonary HRCT","obsolete":false,"parents":["HP:0030879"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care.","id":"HP:0025175","name":"Honeycomb lung","obsolete":false,"parents":["HP:0005948","HP:0006530"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Honeycomb cysts"},{"scope":"EXACT","text":"Honeycombing"}]} +{"alt_ids":[],"definition":"A fine reticular pattern on high-resolution computed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance.","id":"HP:0025176","name":"Intralobular interstitial thickening","obsolete":false,"parents":["HP:0006530"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography.","id":"HP:0025177","name":"Peribronchovascular interstitial thickening","obsolete":false,"parents":["HP:0006530"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increase in thickness of the subpleural interstitium.","id":"HP:0025178","name":"Subpleural interstitial thickening","obsolete":false,"parents":["HP:0031630"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Subpleural scarring"}]} +{"alt_ids":[],"definition":"On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured.","id":"HP:0025179","name":"Ground-glass opacification","obsolete":false,"parents":["HP:0031457"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"GGO"},{"scope":"EXACT","text":"Ground glass opacities"},{"scope":"NARROW","text":"Ground-glass opacification on pulmonary HRCT"}]} +{"alt_ids":[],"definition":"A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules.","id":"HP:0025180","name":"Centrilobular ground-glass opacification on pulmonary HRCT","obsolete":false,"parents":["HP:0025179"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Centrilobular groundglass opacification"},{"scope":"EXACT","text":"Centrilobular groundglass opacity"}]} +{"alt_ids":[],"definition":"An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently.","id":"HP:0025181","name":"Abdominal aseptic abscess","obsolete":false,"parents":["HP:0001438"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region.","id":"HP:0025182","name":"Localized area of pendulous skin","obsolete":false,"parents":["HP:0008067"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Localised area of pendulous skin"}]} +{"alt_ids":[],"definition":"Abnormal increase or decrease of absolute number of helper CD3+CD4+ T cells (either count per volume or percentage of total lymphocytes), compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.","id":"HP:0025183","name":"Abnormal total CD4+ T cell number","obsolete":false,"parents":["HP:0025540"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An altered state of arousal during sleep that may be reported by the individual or an observation of others.","id":"HP:0025184","name":"Arousal parasomnia","obsolete":false,"parents":["HP:0025234"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Arousal related sleep disturbance"}]} +{"alt_ids":[],"definition":"Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva maneuver and even by breathing.","id":"HP:0025186","name":"Marcus Gunn jaw winking synkinesis","obsolete":false,"parents":["HP:0000496"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Marcus Gunn jaw-winking syndrome"},{"scope":"EXACT","text":"Pterygoid-levator synkinesis"},{"scope":"EXACT","text":"Trigemino-oculomotor synkinesis"}]} +{"alt_ids":[],"definition":"Vocalization (production of recognizable words or other sounds) during sleep with lack of awareness.","id":"HP:0025187","name":"Sleep talking","obsolete":false,"parents":["HP:5200300"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Somniloquy"}]} +{"alt_ids":[],"definition":"Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion. It can affect veins, arteries or both.","id":"HP:0025188","name":"Retinal vasculitis","obsolete":false,"parents":["HP:0008046"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hypnic jerks are characterized by sudden and brief (less than 1 second), non-periodic simultaneous contractions of the whole body or one or more extremities at the onset of sleep.","id":"HP:0025189","name":"Hypnic jerks","obsolete":false,"parents":["HP:5200300"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sleep starts"}]} +{"alt_ids":[],"definition":"A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.","id":"HP:0025190","name":"Bilateral tonic-clonic seizure with generalized onset","obsolete":false,"parents":["HP:0002069","HP:0032677"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bilateral tonic-clonic seizure with generalised onset"},{"scope":"EXACT","text":"Generalised tonic-clonic seizure without focal onset"},{"scope":"EXACT","text":"Generalised tonic-clonic seizure without partial onset"},{"scope":"EXACT","text":"Generalised tonic-clonic seizures without focal onset"},{"scope":"EXACT","text":"Generalised-onset tonic-clonic seizure"},{"scope":"EXACT","text":"Generalized tonic-clonic seizure without focal onset"},{"scope":"EXACT","text":"Generalized tonic-clonic seizure without partial onset"},{"scope":"EXACT","text":"Generalized tonic-clonic seizures without focal onset"},{"scope":"EXACT","text":"Generalized-onset tonic-clonic seizure"},{"scope":"EXACT","text":"Primarily generalised tonic-clonic seizures"},{"scope":"EXACT","text":"Primarily generalized tonic-clonic seizures"},{"scope":"EXACT","text":"Primary generalised tonic-clonic seizure"},{"scope":"EXACT","text":"Primary generalised tonic-clonic seizures"},{"scope":"EXACT","text":"Primary generalized tonic-clonic seizure"},{"scope":"EXACT","text":"Primary generalized tonic-clonic seizures"}]} +{"alt_ids":[],"definition":null,"id":"HP:0025191","name":"obsolete Segmental myoclonic seizures","obsolete":true,"parents":[],"replaced_by":["HP:0011166"],"synonyms":[]} +{"alt_ids":[],"definition":"Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum).","id":"HP:0025192","name":"Subtentorial periventricular white matter hyperdensity","obsolete":false,"parents":["HP:0030891"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity.","id":"HP:0025193","name":"Posterolateral diaphragmatic hernia","obsolete":false,"parents":["HP:0000776"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bochdalek hernia"}]} +{"alt_ids":[],"definition":"An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity.","id":"HP:0025194","name":"Morgagni diaphragmatic hernia","obsolete":false,"parents":["HP:0000776"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Morgagni hernia"}]} +{"alt_ids":[],"definition":"A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present.","id":"HP:0025195","name":"Central diaphragmatic hernia","obsolete":false,"parents":["HP:0000776"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Central hernia"}]} +{"alt_ids":[],"definition":"An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.","id":"HP:0025196","name":"Increased total iron binding capacity","obsolete":false,"parents":["HP:0033212"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration.","id":"HP:0025197","name":"Inclusion body fibromatosis","obsolete":false,"parents":["HP:0012316"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Digital fibrous tumor of Reye"},{"scope":"EXACT","text":"Digital fibrous tumour of Reye"},{"scope":"EXACT","text":"Infantile digital fibroma"},{"scope":"EXACT","text":"Infantile digital fibromatosis"}]} +{"alt_ids":[],"definition":"A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp.","id":"HP:0025198","name":"Inflammatory cap polyp","obsolete":false,"parents":["HP:0005266"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Sleep characterized by frequent interruptions, stopping and starting, which disrupt the normal progression of sleep stages.","id":"HP:0025199","name":"Fragmented sleep","obsolete":false,"parents":["HP:4000064"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broken sleep"},{"scope":"EXACT","text":"Fitful sleep"},{"scope":"EXACT","text":"Interrupted sleep"},{"scope":"EXACT","text":"Restless sleep"}]} +{"alt_ids":[],"definition":"Accumulation in muscle cells of filaments composed of actin.","id":"HP:0025200","name":"Muscle fiber actin filament accumulation","obsolete":false,"parents":["HP:0100299"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle fibre actin filament accumulation"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of apolipoprotein in the blood circulation.","id":"HP:0025201","name":"Abnormal circulating apolipoprotein concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal apolipoprotein level"}]} +{"alt_ids":[],"definition":"The concentration of apolipoprotein A-IV in the blood circulation is above the upper limit of normal.","id":"HP:0025202","name":"Elevated circulating apolipoprotein A-IV concentration","obsolete":false,"parents":["HP:0033460"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated apolipoprotein A-IV concentration"},{"scope":"EXACT","text":"Elevated apolipoprotein A-IV level"},{"scope":"EXACT","text":"Elevated apolipoprotein A-IV level in blood"},{"scope":"EXACT","text":"Increased apolipoprotein A-IV concentration"},{"scope":"EXACT","text":"Increased apolipoprotein A-IV level"},{"scope":"EXACT","text":"Increased apolipoprotein A-IV level in blood"}]} +{"alt_ids":[],"definition":"Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins.","id":"HP:0025203","name":"Caput medusae","obsolete":false,"parents":["HP:0030168"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Palm tree sign"}]} +{"alt_ids":[],"definition":"A trigger is defined as an external factor that leads to the manifestation of a sign or symptom in a person with a susceptibility to developing that manifestation.","id":"HP:0025204","name":"Triggered by","obsolete":false,"parents":["HP:0012823"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant.","id":"HP:0025205","name":"Triggered by breast feeding","obsolete":false,"parents":["HP:0033793"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Breastfeeding triggered symptoms"},{"scope":"EXACT","text":"Triggered by breastfeeding"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings.","id":"HP:0025206","name":"Triggered by cold","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cold triggered symptoms"},{"scope":"EXACT","text":"Triggered by cold temperature"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by being dehydrated, i.e., by a deficit in total body water.","id":"HP:0025207","name":"Triggered by dehydration","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dehydration triggered symptoms"},{"scope":"EXACT","text":"Triggered by dehydration"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates.","id":"HP:0025208","name":"Triggered by carbohydrate ingestion","obsolete":false,"parents":["HP:0033793"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Carbohydrate ingestion triggered symptoms"},{"scope":"EXACT","text":"Triggered by carbohydrate ingestion"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose.","id":"HP:0025209","name":"Triggered by fructose ingestion","obsolete":false,"parents":["HP:0025208"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triggered by fruit sugar"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose.","id":"HP:0025210","name":"Triggered by glucose ingestion","obsolete":false,"parents":["HP:0025208"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol.","id":"HP:0025211","name":"Triggered by ethanol ingestion","obsolete":false,"parents":["HP:0033793"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ethanol ingestion triggered symptoms"},{"scope":"BROAD","text":"Triggered by alcohol ingestion"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting).","id":"HP:0025212","name":"Triggered by fasting","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fasting triggered attacks"},{"scope":"EXACT","text":"Fasting triggered symptoms"},{"scope":"EXACT","text":"Triggered by fasting"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose.","id":"HP:0025213","name":"Triggered by galactose ingestion","obsolete":false,"parents":["HP:0025208"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triggered by ingestion of lactose-containing milk"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by exposure to heat.","id":"HP:0025214","name":"Triggered by heat","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Heat triggered symptoms"},{"scope":"EXACT","text":"Triggered by heat"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by febrile illness.","id":"HP:0025215","name":"Triggered by febrile illness","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Febrile illness triggered symptoms"},{"scope":"EXACT","text":"Triggered by fever"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by eating large quantities of food, for instance, by a heavy meal.","id":"HP:0025216","name":"Triggered by heavy meal","obsolete":false,"parents":["HP:0033793"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Heavy meal triggered symptoms"},{"scope":"EXACT","text":"Triggered by overeating"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids.","id":"HP:0025217","name":"Triggered by high-fat diet","obsolete":false,"parents":["HP:0033793"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High-fat diet triggered symptoms"},{"scope":"EXACT","text":"Triggered by high-fat diet"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing.","id":"HP:0025218","name":"Triggered by hyperventilation","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperventilation triggered symptoms"},{"scope":"EXACT","text":"Triggered by hyperventilation"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by a vaccination.","id":"HP:0025219","name":"Triggered by vaccination","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triggered by immunisation"},{"scope":"EXACT","text":"Triggered by immunization"},{"scope":"EXACT","text":"Triggered by vaccination"},{"scope":"EXACT","text":"Vaccination triggered symptoms"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by menstruation in a female.","id":"HP:0025220","name":"Triggered by menstruation","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Menstruation triggered symptoms"},{"scope":"EXACT","text":"Triggered by monthly period"},{"scope":"EXACT","text":"Triggered by period"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by pregnancy in a female.","id":"HP:0025221","name":"Triggered by pregnancy","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pregnancy triggered symptoms"},{"scope":"EXACT","text":"Triggered by pregnancy"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep.","id":"HP:0025222","name":"Triggered by sleep deprivation","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sleep deprivation triggered symptoms"},{"scope":"EXACT","text":"Triggered by sleep deprivation"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by smoking.","id":"HP:0025223","name":"Triggered by smoking","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Smoking triggered symptoms"},{"scope":"EXACT","text":"Triggered by cigarette consumption"},{"scope":"EXACT","text":"Triggered by smoking"},{"scope":"EXACT","text":"Triggered by tobacco use"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium.","id":"HP:0025224","name":"Triggered by sodium ingestion","obsolete":false,"parents":["HP:0033793"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sodium ingestion triggered symptoms"},{"scope":"EXACT","text":"Sodium intake triggered attacks"},{"scope":"EXACT","text":"Triggered by Na ingestion"},{"scope":"EXACT","text":"Triggered by Na+ ingestion"},{"scope":"NARROW","text":"Triggered by salt ingestion"},{"scope":"EXACT","text":"Triggered by sodium intake"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise.","id":"HP:0025225","name":"Triggered by sound","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sound triggered symptoms"},{"scope":"EXACT","text":"Triggered by sound"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by a physical, mental, or emotional factor associated with bodily or mental tension.","id":"HP:0025226","name":"Triggered by stress","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Stress triggered symptoms"},{"scope":"EXACT","text":"Triggered by stress"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by a a state of excitement or by being startled.","id":"HP:0025227","name":"Triggered by excitement","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excitement triggered symptoms"},{"scope":"EXACT","text":"Triggered by excitement"},{"scope":"RELATED","text":"Triggered by startle"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by a sudden movement.","id":"HP:0025228","name":"Triggered by sudden movement","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Kinesigenic"},{"scope":"EXACT","text":"Sudden movement triggered symptoms"},{"scope":"EXACT","text":"Triggered by sudden movement"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by vestibular stimulation, including head turning, cold calorics, postural changes, or rotating chair.","id":"HP:0025229","name":"Triggered by vestibular stimulation","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vestibular stimulation triggered attacks"},{"scope":"EXACT","text":"Vestibular stimulation triggered symptoms"}]} +{"alt_ids":[],"definition":"Inflammation of a tendon.","id":"HP:0025230","name":"Tendonitis","obsolete":false,"parents":["HP:0100261"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Teninitis"}]} +{"alt_ids":[],"definition":"A structural anomaly of a synovial bursa, which is a synovium-lined, sac-like structure found throughout the body near bony prominences and between bones, muscles, tendons, and ligaments. The bursa itself is a synovial lining that represents a potential space insofar as it is collapsed upon itself until a resulting trigger causes the bursa to become irritated and fill with synovial fluid.","id":"HP:0025231","name":"Abnormal synovial bursa morphology","obsolete":false,"parents":["HP:0001367"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of synovial bursa morphology"}]} +{"alt_ids":[],"definition":"Inflammation of a synovial bursa.","id":"HP:0025232","name":"Bursitis","obsolete":false,"parents":["HP:0025231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inability to move trunk and limbs and inability to speak during transition into or out of sleep; awareness is preserved and recall is present.","id":"HP:0025233","name":"Sleep paralysis","obsolete":false,"parents":["HP:5200293","HP:5200299"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A clinically observable or self-reported abnormal behavior, experience, or physiological event that occurs in association with sleep, specific sleep stages, or sleep-wake transitions.","id":"HP:0025234","name":"Parasomnia","obsolete":false,"parents":["HP:0002360"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Event that disrupts sleep"}]} +{"alt_ids":[],"definition":"A parasomnia that occurs during non-rapid eye movement (NREM) sleep.","id":"HP:0025235","name":"NREM parasomnia","obsolete":false,"parents":["HP:0025234"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disturbance in NREM"},{"scope":"EXACT","text":"Non-rapid eye movement parasomnia"}]} +{"alt_ids":[],"definition":"Ambulation during sleep with lack awareness and limited or no recall of the event.","id":"HP:0025236","name":"Sleep walking","obsolete":false,"parents":["HP:0025235","HP:5200300"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sleep walking"},{"scope":"EXACT","text":"Somnambulism"}]} +{"alt_ids":[],"definition":null,"id":"HP:0025237","name":"obsolete Confusional arousal","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot.","id":"HP:0025238","name":"Foot pain","obsolete":false,"parents":["HP:0012514"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foot pain"}]} +{"alt_ids":[],"definition":null,"id":"HP:0025239","name":"obsolete Subhyaloid hemorrhage","obsolete":true,"parents":[],"replaced_by":["HP:0025240"],"synonyms":[]} +{"alt_ids":["HP:0025239","HP:0031804"],"definition":"An accumulation of blood that is located between the retina and the detached posterior hyaloid, or in the vitreous cavity. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area.","id":"HP:0025240","name":"Preretinal hemorrhage","obsolete":false,"parents":["HP:0031803"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Premacular hemorrhage"},{"scope":"EXACT","text":"Preretinal haeme"},{"scope":"EXACT","text":"Preretinal haemorrhage"},{"scope":"EXACT","text":"Preretinal heme"},{"scope":"EXACT","text":"Subhyaloid haemorrhage"},{"scope":"EXACT","text":"Subhyaloid heme"},{"scope":"NARROW","text":"Subhyaloid hemorrhage"}]} +{"alt_ids":[],"definition":"A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells).","id":"HP:0025241","name":"Flame-shaped retinal hemorrhage","obsolete":false,"parents":["HP:0031805"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Feathered retinal heme"},{"scope":"EXACT","text":"Flame-shaped retinal haemorrhage"},{"scope":"EXACT","text":"Linear retina heme"}]} +{"alt_ids":[],"definition":"Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location.","id":"HP:0025242","name":"Dot-and-blot retinal hemorrhage","obsolete":false,"parents":["HP:0031805"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dot-and-blot retinal haemorrhage"},{"scope":"EXACT","text":"Round retinal heme"}]} +{"alt_ids":[],"definition":"Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium.","id":"HP:0025243","name":"Subretinal hemorrhage","obsolete":false,"parents":["HP:0000573"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Subretinal haemorrhage"},{"scope":"EXACT","text":"Subretinal heme"}]} +{"alt_ids":[],"definition":"An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch membrane.","id":"HP:0025244","name":"Sub-retinal pigment epithelium haemorrhage","obsolete":false,"parents":["HP:0000573"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sub-RPE hemorrhage"},{"scope":"EXACT","text":"Subretinal pigment epithelium haemorrhage"},{"scope":"EXACT","text":"Subretinal pigment epithelium hemorrhage"}]} +{"alt_ids":[],"definition":"A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material.","id":"HP:0025245","name":"Cutaneous cyst","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Skin cyst"}]} +{"alt_ids":[],"definition":"Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous.","id":"HP:0025246","name":"Trichilemmal cyst","obsolete":false,"parents":["HP:0025245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pilar cyst"}]} +{"alt_ids":[],"definition":"A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are slowly progressive and can grow to a size of 1 to 4 cm.","id":"HP:0025247","name":"Dermoid cyst","obsolete":false,"parents":["HP:0025245"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge.","id":"HP:0025248","name":"Eruptive vellus hair cyst","obsolete":false,"parents":["HP:0025245"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle).","id":"HP:0025249","name":"Comedo","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead.","id":"HP:0025250","name":"Closed comedo","obsolete":false,"parents":["HP:0025249"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Whitehead"}]} +{"alt_ids":[],"definition":"A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black.","id":"HP:0025251","name":"Open comedo","obsolete":false,"parents":["HP:0025249"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blackhead"}]} +{"alt_ids":[],"definition":"An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map.","id":"HP:0025252","name":"Geographic tongue","obsolete":false,"parents":["HP:0030809"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Annulus migrans"},{"scope":"EXACT","text":"Benign migratory glossitis"},{"scope":"EXACT","text":"Glossitis areata exfoliativa"},{"scope":"EXACT","text":"Lingual erythema migrans"},{"scope":"EXACT","text":"Wandering rash of the tongue"}]} +{"alt_ids":[],"definition":"An abnormal fear of being in a closed or narrow space with no escape is called claustrophobia.","id":"HP:0025253","name":"Claustrophobia","obsolete":false,"parents":["HP:5200232"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An ameliorating factor is defined as an external factor that leads to a sign or symptom that is already present improving or becoming more bearable","id":"HP:0025254","name":"Ameliorated by","obsolete":false,"parents":["HP:0012823"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Improved by"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by pregnancy in a female.","id":"HP:0025255","name":"Ameliorated by pregnancy","obsolete":false,"parents":["HP:0025254"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pregnancy relieves symptoms"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by heat (including fever).","id":"HP:0025256","name":"Ameliorated by heat","obsolete":false,"parents":["HP:0025254"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Fever improves condition"},{"scope":"EXACT","text":"Heat improves condition"},{"scope":"EXACT","text":"Heat improves symptom"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar).","id":"HP:0025257","name":"Ameliorated by carbohydrate ingestion","obsolete":false,"parents":["HP:0025254"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side.","id":"HP:0025258","name":"Stiff neck","obsolete":false,"parents":["HP:0001387","HP:0005986"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neck stiffness"},{"scope":"EXACT","text":"Stiff neck"}]} +{"alt_ids":[],"definition":"A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity.","id":"HP:0025259","name":"Stiff elbow","obsolete":false,"parents":["HP:0001387"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elbow stiffness"},{"scope":"EXACT","text":"Stiff elbow"}]} +{"alt_ids":[],"definition":"A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity.","id":"HP:0025260","name":"Stiff wrist","obsolete":false,"parents":["HP:0001387"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Stiff wrist"},{"scope":"EXACT","text":"Wrist stiffness"}]} +{"alt_ids":[],"definition":"A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity.","id":"HP:0025261","name":"Stiff finger","obsolete":false,"parents":["HP:0001387"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Finger stiffness"},{"scope":"EXACT","text":"Stiff finger"}]} +{"alt_ids":[],"definition":"A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity.","id":"HP:0025262","name":"Stiff hip","obsolete":false,"parents":["HP:0001387"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hip stiffness"},{"scope":"EXACT","text":"Stiff hip"}]} +{"alt_ids":[],"definition":"A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity.","id":"HP:0025263","name":"Stiff knee","obsolete":false,"parents":["HP:0001387"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Knee stiffness"},{"scope":"EXACT","text":"Stiff knee"}]} +{"alt_ids":[],"definition":"A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity.","id":"HP:0025264","name":"Stiff ankle","obsolete":false,"parents":["HP:0001387"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ankle stiffness"},{"scope":"EXACT","text":"Stiff ankle"}]} +{"alt_ids":[],"definition":"A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity.","id":"HP:0025265","name":"Stiff toe","obsolete":false,"parents":["HP:0001387"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Stiff toe"},{"scope":"EXACT","text":"Toe stiffness"}]} +{"alt_ids":[],"definition":null,"id":"HP:0025266","name":"obsolete Cervical osteoarthritis","obsolete":true,"parents":[],"replaced_by":["HP:0008480"],"synonyms":[]} +{"alt_ids":[],"definition":"Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, is caused by the vibration of respiratory structures, especially the soft palate. This vibration results in sound due to obstructed air movement during breathing while sleeping.","id":"HP:0025267","name":"Snoring","obsolete":false,"parents":["HP:5200283"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Snore"},{"scope":"EXACT","text":"Snores"},{"scope":"EXACT","text":"Snoring symptoms"}]} +{"alt_ids":[],"definition":"Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds.","id":"HP:0025268","name":"Stuttering","obsolete":false,"parents":["HP:0002167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Stammering"},{"scope":"EXACT","text":"Stuttering"}]} +{"alt_ids":[],"definition":"A sudden episode of intense fear in a situation where there is no danger or apparent cause.","id":"HP:0025269","name":"Panic attack","obsolete":false,"parents":["HP:0000739"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Panic attack"}]} +{"alt_ids":[],"definition":"Any physiological abnormality of the esophagus.","id":"HP:0025270","name":"Abnormal esophagus physiology","obsolete":false,"parents":["HP:0012719"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of esophagus physiology"},{"scope":"EXACT","text":"Abnormality of oesophagus physiology"},{"scope":"EXACT","text":"Functional abnormality of the esophagus"},{"scope":"EXACT","text":"Functional abnormality of the oesophagus"}]} +{"alt_ids":[],"definition":"Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful.","id":"HP:0025271","name":"Esophageal spasms","obsolete":false,"parents":["HP:0025270"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Symmetrical, blotchy, brownish facial pigmentation.","id":"HP:0025272","name":"Melasma","obsolete":false,"parents":["HP:0000953"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chloasma"},{"scope":"EXACT","text":"Facial melanosis"}]} +{"alt_ids":[],"definition":"Inflammation of the Achilles tendon.","id":"HP:0025273","name":"Achilles tendonitis","obsolete":false,"parents":["HP:0025230"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others.","id":"HP:0025274","name":"Ovarian dermoid cyst","obsolete":false,"parents":["HP:0000138","HP:0012226"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mature cystic ovarian teratoma"}]} +{"alt_ids":[],"definition":"Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure.","id":"HP:0025275","name":"Lateral","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.","id":"HP:0025276","name":"Abnormality of skin adnexa physiology","obsolete":false,"parents":["HP:0001574"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating).","id":"HP:0025277","name":"Gustatory sweating","obsolete":false,"parents":["HP:0025276"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Sweating provoked by cold temperature rather than by heat.","id":"HP:0025278","name":"Cold-induced sweating","obsolete":false,"parents":["HP:0025276"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0025279","name":"Migratory","obsolete":false,"parents":["HP:0011008"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A pain characteristic is defined as a subjective category or type of pain.","id":"HP:0025280","name":"Pain characteristic","obsolete":false,"parents":["HP:0012823"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applied to pain that is described as sharp, i.e., sudden and severe.","id":"HP:0025281","name":"Sharp","obsolete":false,"parents":["HP:0025280"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Stabbing pain"}]} +{"alt_ids":[],"definition":"Applied to pain that is dull, i.e., not severe but that continues over a long period of time.","id":"HP:0025282","name":"Dull","obsolete":false,"parents":["HP:0025280"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dull pain"}]} +{"alt_ids":[],"definition":"Applied to pain that is tender, i.e., elicited by touching the affected body part.","id":"HP:0025283","name":"Tender","obsolete":false,"parents":["HP:0025280"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applied to pain that wakes the affecting individual from sleep.","id":"HP:0025284","name":"Sleep-interrupting","obsolete":false,"parents":["HP:0025280"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An aggravating factor is defined as an external factor that leads to a sign or symptom that is already present getting worse or becoming more severe.","id":"HP:0025285","name":"Aggravated by","obsolete":false,"parents":["HP:0012823"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Exacerbated by"}]} +{"alt_ids":[],"definition":"Applied to a sign or symptom that is aggravated by activity, exertion, or exercise.","id":"HP:0025286","name":"Aggravated by activity","obsolete":false,"parents":["HP:0025285"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aggravated by exercise"},{"scope":"EXACT","text":"Aggravated by exertion"},{"scope":"EXACT","text":"Worse with activity"},{"scope":"EXACT","text":"Worsened by activity"}]} +{"alt_ids":[],"definition":"Applies to an abnormality that is situated in the central part of the body, in the head and trunk as distinguished from the limbs.","id":"HP:0025287","name":"Axial","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A clinical phenomenon characterized by sleeping longer than what is typical or necessary for a person's age and context, or by recurrent episodes of sleep that intrude upon the waking hours. Excessive sleep is identified through self-reports or observations and may involve prolonged nighttime sleep, frequent daytime naps, or episodes of unintentional sleep.","id":"HP:0025288","name":"Excessive sleep","obsolete":false,"parents":["HP:0002360"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prolonged sleep duration"},{"scope":"EXACT","text":"Sleeping too much"}]} +{"alt_ids":[],"definition":"Enlarged lymph nodes in the neck.","id":"HP:0025289","name":"Cervical lymphadenopathy","obsolete":false,"parents":["HP:0002716"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Swollen lymph nodes in the neck"}]} +{"alt_ids":[],"definition":"Applies to an abnormality that affects the arms, trunk, head more than the legs.","id":"HP:0025290","name":"Upper-body predominance","obsolete":false,"parents":["HP:0012838"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality that affects the legs more than the arms, trunk, head.","id":"HP:0025291","name":"Lower-body predominance","obsolete":false,"parents":["HP:0012838"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose).","id":"HP:0025292","name":"Acral","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality whose localization corresponds to the lines of Blaschko, which correspond to the lineage of epithelia cells. Blaschko lines are normally invisible but may become apparent with certain skin diseases and then can be seen to be distributed in lines horizontal to the body.","id":"HP:0025293","name":"Distributed along Blaschko lines","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality whose localization corresponds to the dermatomes, i.e., the nerve root distribution.","id":"HP:0025294","name":"Dermatomal","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Radicular"}]} +{"alt_ids":[],"definition":"Applies to an abnormality whose distribution and appearance resembles that of the grouped umbilicated vesicles seen in herpes simplex and herpes zoster infections.","id":"HP:0025295","name":"Herpetiform","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality whose distribution and appearance resembles that of measles, i.e., maculopapular lesions that are red and roughly 2 to 10 mm in diameter and may be partially confluent.","id":"HP:0025296","name":"Morbilliform","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection).","id":"HP:0025297","name":"Prolonged","obsolete":false,"parents":["HP:0011008"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Sleeping for a longer duration than usual during the night.","id":"HP:0025298","name":"Extended nighttime sleep","obsolete":false,"parents":["HP:0025288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Long nighttime sleep"},{"scope":"EXACT","text":"Prolonged nocturnal sleep"}]} +{"alt_ids":[],"definition":"Regular episodes of sleep that occur during the day outside of the main sleep period.","id":"HP:0025299","name":"Frequent napping","obsolete":false,"parents":["HP:0025288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Frequent daytime naps"}]} +{"alt_ids":[],"definition":"An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.","id":"HP:0025300","name":"Malar rash","obsolete":false,"parents":["HP:0000988"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Butterfly rash"},{"scope":"EXACT","text":"Cheekbone rash"}]} +{"alt_ids":[],"definition":"Applies to an abnormality that occurs in or is exacerbated during the night.","id":"HP:0025301","name":"Nocturnal","obsolete":false,"parents":["HP:0011008"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign, symptom, or other abnormality that occurs in or is exacerbated in the day time.","id":"HP:0025302","name":"Diurnal","obsolete":false,"parents":["HP:0011008"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurrences are separated by an interval in which the sign, symptom, or manifestation is not present.","id":"HP:0025303","name":"Episodic","obsolete":false,"parents":["HP:0031796"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Now and then"}]} +{"alt_ids":[],"definition":"Applies to a sign, symptom, or other manifestation that recurs with a fixed time interval, i.e., the symptom-free periods are always of the same length.","id":"HP:0025304","name":"Periodic","obsolete":false,"parents":["HP:0031796"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cyclic"},{"scope":"EXACT","text":"Cyclical"}]} +{"alt_ids":[],"definition":"Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval of one day (24 hours).","id":"HP:0025305","name":"Quotidian","obsolete":false,"parents":["HP:0025304"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Acute appearance of disease manifestations in a period of minutes.","id":"HP:0025306","name":"Acute emergence over minutes","obsolete":false,"parents":["HP:0011009"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Acute appearance of disease manifestations in a period of hours.","id":"HP:0025307","name":"Acute emergence over hours","obsolete":false,"parents":["HP:0011009"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Acute appearance of disease manifestations in a period of days.","id":"HP:0025308","name":"Acute emergence over days","obsolete":false,"parents":["HP:0011009"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal circular shape of the pupil","id":"HP:0025309","name":"Abnormal pupil shape","obsolete":false,"parents":["HP:0000615"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular pupil"}]} +{"alt_ids":[],"definition":"An abnormal pupil shape that is elliptical, i.e., egg-like.","id":"HP:0025310","name":"Oval pupil","obsolete":false,"parents":["HP:0025309"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material.","id":"HP:0025311","name":"Anterior chamber cyst","obsolete":false,"parents":["HP:0000593"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters.","id":"HP:0025312","name":"Esophoria","obsolete":false,"parents":["HP:0020045","HP:0032011"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia.","id":"HP:0025313","name":"Exophoria","obsolete":false,"parents":["HP:0020049","HP:0032011"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign, flat or slightly elevated melanocytic lesions of the posterior uvea with clearly defined margins. Choroidal nevi tend to remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia.","id":"HP:0025314","name":"Choroidal nevus","obsolete":false,"parents":["HP:0000610"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is worsened, aggravated, or exacerbated by head trauma.","id":"HP:0025315","name":"Exacerbated by head trauma","obsolete":false,"parents":["HP:0025285"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body.","id":"HP:0025317","name":"Cubitus varus","obsolete":false,"parents":["HP:0020300"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A malignant neoplasm originating from the surface ovarian epithelium.","id":"HP:0025318","name":"Ovarian carcinoma","obsolete":false,"parents":["HP:0100615"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ovarian epithelial cancer"}]} +{"alt_ids":[],"definition":null,"id":"HP:0025319","name":"obsolete Rubeosis iridis","obsolete":true,"parents":[],"replaced_by":["HP:0011497"],"synonyms":[]} +{"alt_ids":[],"definition":"Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins.","id":"HP:0025320","name":"Leakage of dye on fundus fluorescein angiography","obsolete":false,"parents":["HP:0030604"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fluorescein leakage"}]} +{"alt_ids":[],"definition":"An anomalous build up of copper (Cu) in the liver.","id":"HP:0025321","name":"Copper accumulation in liver","obsolete":false,"parents":["HP:0034644"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Liver copper accumulation"}]} +{"alt_ids":[],"definition":"Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein.","id":"HP:0025322","name":"Venous occlusion","obsolete":false,"parents":["HP:0030846"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of arterial function.","id":"HP:0025323","name":"Abnormal arterial physiology","obsolete":false,"parents":["HP:0030163"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Blockage of blood flow through an artery.","id":"HP:0025324","name":"Arterial occlusion","obsolete":false,"parents":["HP:0025323"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased density/number and/or decreased diameter of medial eyebrow hairs.","id":"HP:0025325","name":"Sparse medial eyebrow","obsolete":false,"parents":["HP:0045075"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Medial thinning of eyebrow"}]} +{"alt_ids":[],"definition":"Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina.","id":"HP:0025326","name":"Retinal arterial occlusion","obsolete":false,"parents":["HP:0000630"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Retinal artery occlusion"}]} +{"alt_ids":[],"definition":"Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans.","id":"HP:0025327","name":"Decreased renal parenchymal thickness","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby.","id":"HP:0025328","name":"Antepartum hemorrhage","obsolete":false,"parents":["HP:0011029"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Antepartum haemorrhage"},{"scope":"EXACT","text":"Prepartum haemorrhage"},{"scope":"EXACT","text":"Prepartum hemorrhage"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase.","id":"HP:0025329","name":"Anti-glutamic acid decarboxylase antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-GAD antibody positivity"}]} +{"alt_ids":[],"definition":"A limitation of the ability to direct one's gaze below the horizontal meridian.","id":"HP:0025330","name":"Downgaze palsy","obsolete":false,"parents":["HP:0000511"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Downgaze paresis"},{"scope":"EXACT","text":"Supranuclear downgaze palsy"}]} +{"alt_ids":[],"definition":"A limitation of the ability to direct one's gaze above the horizontal meridian.","id":"HP:0025331","name":"Upgaze palsy","obsolete":false,"parents":["HP:0000511"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Supranuclear upgaze palsy"},{"scope":"EXACT","text":"Upgaze paresis"}]} +{"alt_ids":[],"definition":"An anomaly of the outer shell (cortex) of a foot bone.","id":"HP:0025332","name":"Abnormality of foot cortical bone","obsolete":false,"parents":["HP:0003103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the cortex of foot bones"}]} +{"alt_ids":[],"definition":"A reduction in the thickness of the outer shell (cortex) of foot bones.","id":"HP:0025333","name":"Cortical thinning of foot bones","obsolete":false,"parents":["HP:0025332"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by a strong spontaneously arising mental state, reaction or feeling (emotion).","id":"HP:0025334","name":"Triggered by emotion","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Emotion triggered symptoms"}]} +{"alt_ids":[],"definition":"A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months.","id":"HP:0025335","name":"Delayed ability to stand","obsolete":false,"parents":["HP:0002194"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.","id":"HP:0025336","name":"Delayed ability to sit","obsolete":false,"parents":["HP:0002194"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.","id":"HP:0025337","name":"Red eye","obsolete":false,"parents":["HP:0008047"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Red eye"},{"scope":"EXACT","text":"Red eyes"}]} +{"alt_ids":[],"definition":"A ring of redness at the limbus of the eye, the border between the cornea and the sclera.","id":"HP:0025338","name":"Circumlimbal hyperemia","obsolete":false,"parents":["HP:0030953"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ciliary limbus"},{"scope":"EXACT","text":"Circumlimbal hyperaemia"}]} +{"alt_ids":[],"definition":"Prominence of blood vessels of the superficial episcleral tissues.","id":"HP:0025339","name":"Superficial episcleral hyperemia","obsolete":false,"parents":["HP:0000591","HP:0025337"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Superficial episcleral hypaeremia"}]} +{"alt_ids":[],"definition":"Prominence of blood vessels of the deep episcleral tissues.","id":"HP:0025340","name":"Deep episcleral hyperemia","obsolete":false,"parents":["HP:0000591","HP:0025337"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deep episcleral hyperaemia"}]} +{"alt_ids":[],"definition":"An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea.","id":"HP:0025341","name":"Corneal keratic precipitates","obsolete":false,"parents":["HP:0011488"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Blockage of the main artery in the retina. In the acute phase, the fundus may show cherry red spot and stasis of retinal flow. The typical presentation is one of profound monocular visual loss.","id":"HP:0025342","name":"Central retinal artery occlusion","obsolete":false,"parents":["HP:3000032"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces.","id":"HP:0025343","name":"Lupus anticoagulant","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).","id":"HP:0025344","name":"Interlobular bile duct destruction","obsolete":false,"parents":["HP:0011040"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of beta-2-microglobulin in the blood circulation.","id":"HP:0025345","name":"Abnormal circulating beta-2-microglobulin concentration","obsolete":false,"parents":["HP:0025465"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal beta-2-microglobulin level"},{"scope":"EXACT","text":"Abnormality of circulating B2M level"},{"scope":"EXACT","text":"Abnormality of circulating beta2 microglobulin level"},{"scope":"EXACT","text":"Abnormality of circulating beta2-m level"},{"scope":"EXACT","text":"Abnormality of circulating beta2m level"}]} +{"alt_ids":[],"definition":"The concentration of beta-2-microglobulin in the blood circulation is above the upper limit of normal.","id":"HP:0025346","name":"Elevated circulating beta-2-microglobulin concentration","obsolete":false,"parents":["HP:0025345"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated beta-2-microglobulin concentration"},{"scope":"EXACT","text":"Elevated beta-2-microglobulin level"},{"scope":"EXACT","text":"Elevated beta-2-microglobulin level in blood"},{"scope":"EXACT","text":"Elevated circulating beta-2-microglobulin level"},{"scope":"EXACT","text":"Increased beta-2-microglobulin concentration"},{"scope":"EXACT","text":"Increased beta-2-microglobulin level"},{"scope":"EXACT","text":"Increased beta-2-microglobulin level in blood"}]} +{"alt_ids":[],"definition":"The concentration of beta-2-microglobulin in the blood circulation is below the lower limit of normal.","id":"HP:0025347","name":"Decreased circulating beta-2-microglobulin concentration","obsolete":false,"parents":["HP:0025345"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased beta-2-microglobulin concentration"},{"scope":"EXACT","text":"Decreased beta-2-microglobulin level"},{"scope":"EXACT","text":"Decreased beta-2-microglobulin level in blood"},{"scope":"EXACT","text":"Reduced beta-2-microglobulin concentration"},{"scope":"EXACT","text":"Reduced beta-2-microglobulin level"},{"scope":"EXACT","text":"Reduced beta-2-microglobulin level in blood"},{"scope":"EXACT","text":"Reduced circulating beta-2-microglobulin level"}]} +{"alt_ids":[],"definition":"An anomaly of the margin of the cornea overlapped by the sclera.","id":"HP:0025348","name":"Abnormal corneal limbus morphology","obsolete":false,"parents":["HP:0000481"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the corneal limbus"}]} +{"alt_ids":[],"definition":"Swelling of the margin of the cornea overlapped by the sclera.","id":"HP:0025349","name":"Limbal edema","obsolete":false,"parents":["HP:0025348"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Limbal oedema"}]} +{"alt_ids":[],"definition":"Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein.","id":"HP:0025350","name":"Giant conjunctival papillae","obsolete":false,"parents":["HP:0030946"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers.","id":"HP:0025351","name":"Recurrent interdigital mycosis","obsolete":false,"parents":["HP:0002841"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent interdigital tinea"}]} +{"alt_ids":[],"definition":"Description of conditions that are exclusively or predominantly observed to display de novo variants. In some cases, this may be due to the limited reproductive fitness of affected individuals.","id":"HP:0025352","name":"Typically de novo","obsolete":false,"parents":["HP:0034335"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Autosomal dominant germline de novo mutation"}]} +{"alt_ids":[],"definition":"A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells.","id":"HP:0025353","name":"Anti-multiple nuclear dots antibody positivity","obsolete":false,"parents":["HP:0003493"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-MND antibodies"}]} +{"alt_ids":[],"definition":"An anomaly of cellular morphology or physiology.","id":"HP:0025354","name":"Abnormal cellular phenotype","obsolete":false,"parents":["HP:0000118"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the temporal retina and may be hemorrhagic or exudative.","id":"HP:0025355","name":"Retinal arteriolar macroaneurysms","obsolete":false,"parents":["HP:0000630"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0025356","name":"obsolete Psychomotor retardation","obsolete":true,"parents":[],"replaced_by":["HP:0001263"],"synonyms":[]} +{"alt_ids":[],"definition":"A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous.","id":"HP:0025357","name":"Erratic myoclonus","obsolete":false,"parents":["HP:0001336"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentary myoclonus"}]} +{"alt_ids":[],"definition":"Presence of iris pigment epithelium on the anterior surface of the iris.","id":"HP:0025358","name":"Uveal ectropion","obsolete":false,"parents":["HP:0000525"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ectropion uveae"}]} +{"alt_ids":[],"definition":"An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance).","id":"HP:0025359","name":"Polygonal renal calices","obsolete":false,"parents":["HP:0011130"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Polygonal calices"},{"scope":"EXACT","text":"Polygonal-shaped calices"}]} +{"alt_ids":[],"definition":"Increased number of calices of the kidney.","id":"HP:0025360","name":"Polycalycosis","obsolete":false,"parents":["HP:0011130"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.","id":"HP:0025361","name":"Abnormal medullary pyramid morphology","obsolete":false,"parents":["HP:0100957"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of medullary pyramid morphology"}]} +{"alt_ids":[],"definition":"Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.","id":"HP:0025362","name":"Renal medullary pyramid hypoplasia","obsolete":false,"parents":["HP:0025361"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplasia of the medullary pyramids"}]} +{"alt_ids":[],"definition":"Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina.","id":"HP:0025363","name":"Glomerular endocapillary hypercellularity","obsolete":false,"parents":["HP:0025006"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Endocapillary hypercellularity"}]} +{"alt_ids":[],"definition":"Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells.","id":"HP:0025364","name":"Glomerular extracapillary hypercellularity","obsolete":false,"parents":["HP:0000095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extracapillary glomerular hypercellularity"},{"scope":"EXACT","text":"Extracapillary hypercellularity"}]} +{"alt_ids":[],"definition":"A condition in which the intrinsic circadian rhythm is no longer entrained to the 24-h schedule. Normal individuals who are exposed to an environment devoid of zeitgebers develop free-running rhythms with a period longer than 24 h.","id":"HP:0025365","name":"Free-running sleep pattern","obsolete":false,"parents":["HP:0006979"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Non-24 sleep pattern"}]} +{"alt_ids":[],"definition":"A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age.","id":"HP:0025367","name":"Trichoepithelioma","obsolete":false,"parents":["HP:0012843"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone).","id":"HP:0025368","name":"Abnormal growth plate morphology","obsolete":false,"parents":["HP:0011842"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of growth plate morphology"}]} +{"alt_ids":[],"definition":"Increased thickness (dimension along the axis of the bone) of the growth plate.","id":"HP:0025369","name":"Thick growth plates","obsolete":false,"parents":["HP:0025368"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal bone tissue formation (ossification) affecting the sacrum.","id":"HP:0025370","name":"Abnormal ossification of the sacrum","obsolete":false,"parents":["HP:0005107"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Formation of the sacrum bone tissue occurs later than age-adjusted norms.","id":"HP:0025371","name":"Delayed ossification of the sacrum","obsolete":false,"parents":["HP:0025370"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Snoring at a particularly loud or abnormally high volume.","id":"HP:0025372","name":"Loud snoring","obsolete":false,"parents":["HP:0025267"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Has loud snoring"},{"scope":"EXACT","text":"Have loud snoring"},{"scope":"EXACT","text":"Heavy snoring"},{"scope":"EXACT","text":"Snores loudly"}]} +{"alt_ids":[],"definition":"Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge.","id":"HP:0025373","name":"Interictal EEG abnormality","obsolete":false,"parents":["HP:0002353"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vertebral body around which the first vertebra rotates.","id":"HP:0025374","name":"Duplicated odontoid process","obsolete":false,"parents":["HP:0003310"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus.","id":"HP:0025375","name":"Orthotopic os odontoideum","obsolete":false,"parents":["HP:0005667"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of glutamine in the urine.","id":"HP:0025376","name":"Hyperglutaminuria","obsolete":false,"parents":["HP:0033093"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Glutamine high in urine"},{"scope":"EXACT","text":"Glutaminuria"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by exertion or physical exercise.","id":"HP:0025377","name":"Triggered by exertion","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Exertion triggered symptoms"},{"scope":"EXACT","text":"Triggered by physical exercise"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase.","id":"HP:0025379","name":"Anti-thyroid peroxidase antibody positivity","obsolete":false,"parents":["HP:0430050"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-TPO antibody positivity"},{"scope":"EXACT","text":"Antimicrosomal antibodies"},{"scope":"EXACT","text":"Antimicrosomal antibody positivity"},{"scope":"EXACT","text":"TPOAbs"}]} +{"alt_ids":[],"definition":"Increased concentration of androstenedione in the blood circulation.","id":"HP:0025380","name":"Increased circulating androstenedione concentration","obsolete":false,"parents":["HP:0030348","HP:0033811"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased serum androstenedione"}]} +{"alt_ids":[],"definition":"Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function.","id":"HP:0025381","name":"Anti-pituitary antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake.","id":"HP:0025382","name":"Hypodipsia","obsolete":false,"parents":["HP:0030082"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An area of fat accumulation at the back of the neck in the form of a hump.","id":"HP:0025383","name":"Dorsocervical fat pad","obsolete":false,"parents":["HP:0001001"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Buffalo hump"}]} +{"alt_ids":[],"definition":"Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery.","id":"HP:0025384","name":"Diet-resistant subcutaneous adipose tissue","obsolete":false,"parents":["HP:0009124"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery.","id":"HP:0025385","name":"Diet-resistant subcutaneous adipose tissue below waist","obsolete":false,"parents":["HP:0025384"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Depression of profile in both temporal regions.","id":"HP:0025386","name":"Bitemporal hollowing","obsolete":false,"parents":["HP:0000606"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other.","id":"HP:0025387","name":"Pill-rolling tremor","obsolete":false,"parents":["HP:0002322"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pill rolling"}]} +{"alt_ids":[],"definition":"A nodular lesion that develops in the thyroid gland. The term \"thyroid nodule\" refers to any abnormal growth that forms a lump in the thyroid gland.","id":"HP:0025388","name":"Thyroid nodule","obsolete":false,"parents":["HP:0011772"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"High-resolution computed tomography (HRCT) can distinguish findings that characterize characterize interstitial lung diseases in a way not possible with other modalities.","id":"HP:0025389","name":"Pulmonary interstitial high-resolution computed tomography abnormality","obsolete":false,"parents":["HP:0006530","HP:0031983"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pulmonary interstitiatial HRCT abnormality"}]} +{"alt_ids":[],"definition":"On pulmonary high-resolution computed tomography, reticular pattern is characterized by innumerable interlacing shadows suggesting a mesh.","id":"HP:0025390","name":"Reticular pattern on pulmonary HRCT","obsolete":false,"parents":["HP:0025389"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0033659"],"definition":"The so-called crazy paving pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia.","id":"HP:0025391","name":"Crazy paving pattern","obsolete":false,"parents":["HP:0025389"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Crazy paving pattern on pulmonary HRCT"},{"scope":"EXACT","text":"Crazy-paving pattern"}]} +{"alt_ids":[],"definition":"A nodular pattern is characterized on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter.","id":"HP:0025392","name":"Nodular pattern on pulmonary HRCT","obsolete":false,"parents":["HP:0025389"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography.","id":"HP:0025393","name":"Reticulonodular pattern on pulmonary HRCT","obsolete":false,"parents":["HP:0025389"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema.","id":"HP:0025394","name":"Cystic pattern on pulmonary HRCT","obsolete":false,"parents":["HP:0025389"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography,","id":"HP:0025395","name":"Combined cystic and ground-glass pattern on pulmonary HRCT","obsolete":false,"parents":["HP:0031457"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography.","id":"HP:0025396","name":"Decreased attenuation pattern on pulmonary HRCT","obsolete":false,"parents":["HP:0025389"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Black lung pattern on pulmonary HRCT"}]} +{"alt_ids":[],"definition":"A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography.","id":"HP:0025397","name":"Mosaic attenuation pattern on pulmonary HRCT","obsolete":false,"parents":["HP:0025389"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution.","id":"HP:0025398","name":"Nodular-perilymphatic pattern on pulmonary HRCT","obsolete":false,"parents":["HP:0025392"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree.","id":"HP:0025399","name":"Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT","obsolete":false,"parents":["HP:0025392"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern.","id":"HP:0025400","name":"Nodular-random pattern on pulmonary HRCT","obsolete":false,"parents":["HP:0025392"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality in which the eyes are held permanently wide open.","id":"HP:0025401","name":"Staring gaze","obsolete":false,"parents":["HP:0012373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Episodes of staring"},{"scope":"EXACT","text":"Staring episodes"},{"scope":"EXACT","text":"Staring eyes"}]} +{"alt_ids":[],"definition":"Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion.","id":"HP:0025402","name":"Square-wave jerks","obsolete":false,"parents":["HP:0032114"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A habitual positioning of the body with the head and upper back bent forward.","id":"HP:0025403","name":"Stooped posture","obsolete":false,"parents":["HP:0100022"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location.","id":"HP:0025404","name":"Abnormal visual fixation","obsolete":false,"parents":["HP:0000496"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deficit in the ability to fixate eye movements in order to stabilize images on the retina","id":"HP:0025405","name":"Visual fixation instability","obsolete":false,"parents":["HP:0025404"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Instability of ocular fixation"}]} +{"alt_ids":[],"definition":"A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.","id":"HP:0025406","name":"Asthenia","obsolete":false,"parents":["HP:0025142"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lack of energy and strength"},{"scope":"RELATED","text":"Prostration"},{"scope":"EXACT","text":"Weakness"}]} +{"alt_ids":[],"definition":"An abnormal connection (fistula) between the rectum and the urethra.","id":"HP:0025407","name":"Rectourethral fistula","obsolete":false,"parents":["HP:0010480","HP:0100590"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Urethrorectal fistula"}]} +{"alt_ids":[],"definition":"Any anomaly of the structure of the spleen.","id":"HP:0025408","name":"Abnormal spleen morphology","obsolete":false,"parents":["HP:0001743"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Splenic lesion"}]} +{"alt_ids":[],"definition":"Any anomaly of the function of the spleen.","id":"HP:0025409","name":"Abnormal spleen physiology","obsolete":false,"parents":["HP:0001743"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Joining of the spleen and a gonad during embryological development.","id":"HP:0025410","name":"Splenogonadal fusion","obsolete":false,"parents":["HP:0000812","HP:0025408"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis.","id":"HP:0025413","name":"Fossa navicularis urethral stricture","obsolete":false,"parents":["HP:0012227"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa.","id":"HP:0025414","name":"Pendulous urethral stricture","obsolete":false,"parents":["HP:0012227"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis.","id":"HP:0025415","name":"Bulbar urethral stricture","obsolete":false,"parents":["HP:0012227"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A narrowing of the vagina owing to scar formation.","id":"HP:0025416","name":"Vaginal stricture","obsolete":false,"parents":["HP:0000142"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Urethra more open or expanded than normal.","id":"HP:0025417","name":"Patulous urethra","obsolete":false,"parents":["HP:0000795"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct.","id":"HP:0025418","name":"Renal cortical necrosis","obsolete":false,"parents":["HP:0011035","HP:0032618"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Necrosis of the kidney cortex"}]} +{"alt_ids":[],"definition":"A pneumatocele is a thin walled, gas-filled space in the lung. It is most frequently caused by acute pneumonia, trauma, or aspiration of hydrocarbon fluid and is usually transient. The mechanism is believed to be a combination of parenchymal necrosis and check-valve airway obstruction. A pneumatocele appears as an approximately round, thin-walled airspace in the lung.","id":"HP:0025419","name":"Pulmonary pneumatocele","obsolete":false,"parents":["HP:0032445"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pulmonary pneumatocoele"}]} +{"alt_ids":[],"definition":"A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen.","id":"HP:0025420","name":"Diffuse alveolar hemorrhage","obsolete":false,"parents":["HP:0040223"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Diffuse alveolar haemorrhage"}]} +{"alt_ids":[],"definition":"The presence of free air in the mediastinum.","id":"HP:0025421","name":"Pneumomediastinum","obsolete":false,"parents":["HP:0045026"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance.","id":"HP:0025422","name":"Pleural cyst","obsolete":false,"parents":["HP:0002103"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly of the structure of the larynx.","id":"HP:0025423","name":"Abnormal larynx morphology","obsolete":false,"parents":["HP:0001600"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly of the function of the larynx.","id":"HP:0025424","name":"Abnormal larynx physiology","obsolete":false,"parents":["HP:0001600"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.","id":"HP:0025425","name":"Laryngospasm","obsolete":false,"parents":["HP:0025424"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002109"],"definition":"Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs.","id":"HP:0025426","name":"Abnormal bronchus morphology","obsolete":false,"parents":["HP:0005607"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the bronchi"}]} +{"alt_ids":[],"definition":"Any anomaly of the function of the bronchi.","id":"HP:0025427","name":"Abnormal bronchus physiology","obsolete":false,"parents":["HP:0002795"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0025428","name":"obsolete Bronchospasm","obsolete":true,"parents":[],"replaced_by":["HP:4000007"],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation.","id":"HP:0025429","name":"Abnormal cry","obsolete":false,"parents":["HP:0001608"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of crying in an abnormally high-pitched voice.","id":"HP:0025430","name":"High-pitched cry","obsolete":false,"parents":["HP:0025429"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations.","id":"HP:0025431","name":"Staccato cry","obsolete":false,"parents":["HP:0025429"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign epithelial skin tumor manifesting as a slightly elevated circular plaque or nodule with a red, pink or brown color and a diameter up to 22 mm.","id":"HP:0025432","name":"Acanthoma","obsolete":false,"parents":["HP:0008069"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced level of the enzyme lecithin cholesterol acyl transferase.","id":"HP:0025433","name":"Decreased lecithin cholesterol acyl transferase level","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0031906"],"definition":"A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum.","id":"HP:0025434","name":"Reduced circulating CH50 activity","obsolete":false,"parents":["HP:0031904"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased total hemolytic complement activity"},{"scope":"EXACT","text":"Reduced CH50"},{"scope":"EXACT","text":"Reduced circulating 50% hemolytic complement (CH50) activity"},{"scope":"EXACT","text":"Reduced hemolytic complement activity"}]} +{"alt_ids":[],"definition":"An elevated level of the enzyme lactate dehydrogenase in the blood circulation.","id":"HP:0025435","name":"Increased circulating lactate dehydrogenase concentration","obsolete":false,"parents":["HP:0045040"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased circulating LDH concentration"},{"scope":"EXACT","text":"Increased lactate dehydrogenase level"}]} +{"alt_ids":[],"definition":"Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone.","id":"HP:0025436","name":"Elevated serum 11-deoxycortisol","obsolete":false,"parents":["HP:0003118"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated serum 21-hydroxyprogesterone"},{"scope":"EXACT","text":"Elevated serum deoxycorticosterone"}]} +{"alt_ids":[],"definition":"Increased size of the head of sperm.","id":"HP:0025437","name":"Macrozoospermia","obsolete":false,"parents":["HP:0012865"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Macrocephalic sperm head"}]} +{"alt_ids":[],"definition":"Inflammation (due to infection or irritation) of the pharynx.","id":"HP:0025439","name":"Pharyngitis","obsolete":false,"parents":["HP:0033151"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C.","id":"HP:0025440","name":"Warm reactive autoantibody positivity","obsolete":false,"parents":["HP:6000388"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Ectopic deposition of calcium salts in the Achilles tendon.","id":"HP:0025441","name":"Achilles tendon calcification","obsolete":false,"parents":["HP:0005109"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Calcification of the Achilles tendon"}]} +{"alt_ids":[],"definition":"An abnormality of the function of the cardiac atria.","id":"HP:0025443","name":"Abnormal cardiac atrial physiology","obsolete":false,"parents":["HP:0011025"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A decrease in the volume (size) of the amygdyla.","id":"HP:0025444","name":"Reduced amygdala volume","obsolete":false,"parents":["HP:0033668"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decrease in amygdala volume"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the papillary muscles of the left ventricle.","id":"HP:0025445","name":"Abnormal papillary muscle morphology","obsolete":false,"parents":["HP:0001711"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Morphological abnormality of the papillary muscles"}]} +{"alt_ids":[],"definition":"A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet.","id":"HP:0025446","name":"Anomalous insertion of papillary muscle directly into anterior mitral leaflet","obsolete":false,"parents":["HP:0025445"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal location of the insertion of a papillary muscle into the left ventricular wall.","id":"HP:0025447","name":"Displacement of the papillary muscles","obsolete":false,"parents":["HP:0025445"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally anterior location of the papillary muscles of the left ventricle.","id":"HP:0025448","name":"Anterior displacement of the papillary muscles","obsolete":false,"parents":["HP:0025447"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anteriorly displaced papillary muscles"}]} +{"alt_ids":[],"definition":"Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view,","id":"HP:0025449","name":"Apically displaced anterolateral papillary muscle","obsolete":false,"parents":["HP:0025447"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Apically displaced papillary muscles"}]} +{"alt_ids":[],"definition":"Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm.","id":"HP:0025451","name":"Testicular adrenal rest tumor","obsolete":false,"parents":["HP:0010788"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Testicular adrenal rest tumour"}]} +{"alt_ids":[],"definition":"A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer.","id":"HP:0025452","name":"Pyoderma gangrenosum","obsolete":false,"parents":["HP:0200042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Occurrence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development.","id":"HP:0025453","name":"Delayed adrenarche","obsolete":false,"parents":["HP:0000823"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0032207"],"definition":"Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid.","id":"HP:0025454","name":"Abnormal CSF metabolite concentration","obsolete":false,"parents":["HP:0001939","HP:0002921"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal CSF metabolite level"},{"scope":"EXACT","text":"Abnormal cerebrospinal fluid metabolite concentration"}]} +{"alt_ids":[],"definition":"5-HIAA (5-hydroxyindolacetic acid) concentration in the cerebrospinal fluid (CSF) is below the lower limit of normal.","id":"HP:0025455","name":"Decreased CSF 5-hydroxyindolacetic acid concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased CSF 5-HIAA"},{"scope":"EXACT","text":"Low CSF 5-HIAA"},{"scope":"EXACT","text":"Low CSF 5-hydroxyindolacetic acid"}]} +{"alt_ids":[],"definition":"Any deviation from the normal range of a protein concentration in the cerebrospinal fluid.","id":"HP:0025456","name":"Abnormal CSF protein concentration","obsolete":false,"parents":["HP:0001939","HP:0002921"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal CSF protein level"}]} +{"alt_ids":[],"definition":"CSF total protein level is below the lower limit of normal.","id":"HP:0025457","name":"Decreased CSF protein concentration","obsolete":false,"parents":["HP:0025456"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased CSF protein"},{"scope":"EXACT","text":"Decreased cerebrospinal fluid total protein"},{"scope":"EXACT","text":"Hypoproteinorrhachia"},{"scope":"EXACT","text":"Low CSF total protein"}]} +{"alt_ids":[],"definition":"CSF albumin level is below the lower limit of normal.","id":"HP:0025458","name":"Decreased CSF albumin concentration","obsolete":false,"parents":["HP:0500238"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low CSF albumin"}]} +{"alt_ids":[],"definition":"An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.","id":"HP:0025459","name":"Increased CSF/serum albumin ratio","obsolete":false,"parents":["HP:0030981"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS).","id":"HP:0025460","name":"High myoinositol in brain by MRS","obsolete":false,"parents":["HP:0012705"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High myo-inositol in brain by MRS"}]} +{"alt_ids":[],"definition":"Any anomaly of cell structure.","id":"HP:0025461","name":"Abnormal cell morphology","obsolete":false,"parents":["HP:0025354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0025462","name":"obsolete Abnormal cellular physiology","obsolete":true,"parents":[],"replaced_by":["HP:0011017"],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions.","id":"HP:0025463","name":"Abnormality of redox activity","obsolete":false,"parents":["HP:0011017"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage.","id":"HP:0025464","name":"Increased reactive oxygen species production","obsolete":false,"parents":["HP:0025463"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased ROS production"},{"scope":"RELATED","text":"Oxidative stress"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of beta globulin in the blood circulation.","id":"HP:0025465","name":"Abnormal circulating beta globulin concentration","obsolete":false,"parents":["HP:0032179"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased level of beta 2-microglobulins in the urine.","id":"HP:0025466","name":"Beta 2-microglobulinuria","obsolete":false,"parents":["HP:0020129"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal loss of anagen (growth phase) hairs.","id":"HP:0025469","name":"Anagen effluvium","obsolete":false,"parents":["HP:0011362"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of hair loss characterized by an abnormal increase in dormant, telogen stage hair follicles.","id":"HP:0025470","name":"Telogen effluvium","obsolete":false,"parents":["HP:0011362"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation.","id":"HP:0025471","name":"Congenital panfollicular nevus","obsolete":false,"parents":["HP:0003764"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching.","id":"HP:0025472","name":"Recurrent plantar mycosis","obsolete":false,"parents":["HP:0002841"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin.","id":"HP:0025473","name":"Hyperpigmented papule","obsolete":false,"parents":["HP:0200034"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.","id":"HP:0025474","name":"Erythematous plaque","obsolete":false,"parents":["HP:0200035"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Violaceous plaque"}]} +{"alt_ids":[],"definition":"A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation.","id":"HP:0025475","name":"Erythematous macule","obsolete":false,"parents":["HP:0012733"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm.","id":"HP:0025476","name":"Testicular lipomatosis","obsolete":false,"parents":["HP:0000035","HP:0001012"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Calcified deposits in soft tissue structures outside a joint.","id":"HP:0025477","name":"Periarticular calcification","obsolete":false,"parents":["HP:0010766"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram.","id":"HP:0025478","name":"Atrial standstill","obsolete":false,"parents":["HP:0005115"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Silent atrium"}]} +{"alt_ids":[],"definition":"A pathological neglect of personal needs and well-being that includes attending to self-grooming, personal care and the attention to cleanliness of personal space.","id":"HP:0025479","name":"Self-neglect","obsolete":false,"parents":["HP:0000745"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft.","id":"HP:0025480","name":"Lipomyelomeningocele","obsolete":false,"parents":["HP:0034238"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of one half of the vertebral body in the cervical spine.","id":"HP:0025481","name":"Cervical hemivertebrae","obsolete":false,"parents":["HP:0002937"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficient time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid.","id":"HP:0025482","name":"Positive perchlorate discharge test","obsolete":false,"parents":["HP:0002926"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of thyroglobulin in the blood circulation.","id":"HP:0025483","name":"Abnormal circulating thyroglobulin concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal circulating thyroglobulin level"},{"scope":"EXACT","text":"Abnormal thyroglobulin level"}]} +{"alt_ids":[],"definition":"The concentration of thyroglobulin in the blood circulation is above the upper limit of normal.","id":"HP:0025484","name":"Elevated circulating thyroglobulin concentration","obsolete":false,"parents":["HP:0025483"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated thyroglobulin concentration"},{"scope":"EXACT","text":"Elevated thyroglobulin level"},{"scope":"EXACT","text":"Elevated thyroglobulin level in blood"},{"scope":"EXACT","text":"Increased circulating thyroglobulin level"},{"scope":"EXACT","text":"Increased thyroglobulin concentration"},{"scope":"EXACT","text":"Increased thyroglobulin level"},{"scope":"EXACT","text":"Increased thyroglobulin level in blood"}]} +{"alt_ids":[],"definition":"Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life.","id":"HP:0025485","name":"Vaginal adenosis","obsolete":false,"parents":["HP:0000142"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The outer labia are sealed together.","id":"HP:0025486","name":"Fused labia majora","obsolete":false,"parents":["HP:0012881"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the bladder.","id":"HP:0025487","name":"Abnormal bladder morphology","obsolete":false,"parents":["HP:0000014"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of bladder morphology"}]} +{"alt_ids":[],"definition":"A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation.","id":"HP:0025488","name":"Detrusor sphincter dyssynergia","obsolete":false,"parents":["HP:0000009"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital anomaly characterized by the presence of two bladders.","id":"HP:0025489","name":"Bladder duplication","obsolete":false,"parents":["HP:0025487"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course.","id":"HP:0025490","name":"Myocardial bridging","obsolete":false,"parents":["HP:0011686"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intramyocardial coronary artery course"}]} +{"alt_ids":[],"definition":"Narrowing of a vein due to intimal hyperplasia and fibrosis.","id":"HP:0025491","name":"Venous stenosis","obsolete":false,"parents":["HP:0002624"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs.","id":"HP:0025492","name":"Microcoria","obsolete":false,"parents":["HP:0000615","HP:0007700"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin.","id":"HP:0025493","name":"Palmoplantar erythema","obsolete":false,"parents":["HP:0010783"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans","id":"HP:0025494","name":"Coated aorta","obsolete":false,"parents":["HP:0001679"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Significant luminal narrowing of a long segment of the descending aorta.","id":"HP:0025495","name":"Descending aorta hypoplasia","obsolete":false,"parents":["HP:0031934"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly of the function of a coronary artery.","id":"HP:0025496","name":"Abnormal coronary artery physiology","obsolete":false,"parents":["HP:0025323"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A brief and sudden narrowing of a coronary artery.","id":"HP:0025497","name":"Coronary artery spasm","obsolete":false,"parents":["HP:0025496"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Coronary artery vasospasm"}]} +{"alt_ids":[],"definition":"Absence of ceruloplasmin in the blood.","id":"HP:0025498","name":"Aceruloplasminemia","obsolete":false,"parents":["HP:0033144"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aceruloplasminaemia"}]} +{"alt_ids":[],"definition":"Obesity with a body mass index of 30 to 34.9 kg per square meter.","id":"HP:0025499","name":"Class I obesity","obsolete":false,"parents":["HP:0001513"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Obesity grade 1"}]} +{"alt_ids":[],"definition":"Obesity with a body mass index of 35 to 39.9 kg per square meter.","id":"HP:0025500","name":"Class II obesity","obsolete":false,"parents":["HP:0001513"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Obesity grade 2"}]} +{"alt_ids":[],"definition":"Obesity with a body mass index of 40 kg per square meter or higher.","id":"HP:0025501","name":"Class III obesity","obsolete":false,"parents":["HP:0001513"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Obesity grade 3"}]} +{"alt_ids":[],"definition":"Increased body weight with a body mass index of 25-29.9 kg per square meter.","id":"HP:0025502","name":"Overweight","obsolete":false,"parents":["HP:0004324"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva.","id":"HP:0025503","name":"Anomalous coronary artery arising from the opposite sinus","obsolete":false,"parents":["HP:0011636"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The circumflex coronary artery originates from the right aortic sinus of Valsalva.","id":"HP:0025505","name":"Anomalous origin of the circumflex artery from the right sinus of Valsalva","obsolete":false,"parents":["HP:0011636"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels,","id":"HP:0025506","name":"Coronary artery sandwich anomaly","obsolete":false,"parents":["HP:0025503"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anomalous coronary artery with aortic origin and course between the great arteries"}]} +{"alt_ids":[],"definition":"A papule with yellow color.","id":"HP:0025507","name":"Yellow papule","obsolete":false,"parents":["HP:0200034"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Yellow-orange papule"}]} +{"alt_ids":[],"definition":"Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints.","id":"HP:0025508","name":"Gottron's papules","obsolete":false,"parents":["HP:0200034"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gottron papules"}]} +{"alt_ids":[],"definition":"Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum.","id":"HP:0025509","name":"Piezogenic pedal papules","obsolete":false,"parents":["HP:0200034"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tan, regularly bordered patch with darker macules within the lesion.","id":"HP:0025510","name":"Nevus spilus","obsolete":false,"parents":["HP:0003764"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled lentiginous Nevus"}]} +{"alt_ids":[],"definition":"A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood.","id":"HP:0025511","name":"Nevus sebaceus","obsolete":false,"parents":["HP:0003764"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A papule with the same color as the surrounding skin.","id":"HP:0025512","name":"Skin-colored papule","obsolete":false,"parents":["HP:0200034"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flesh-colored papule"}]} +{"alt_ids":[],"definition":"Breakage of the sclera.","id":"HP:0025513","name":"Scleral rupture","obsolete":false,"parents":["HP:0000591"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic.","id":"HP:0025514","name":"Morning glory anomaly","obsolete":false,"parents":["HP:0000587"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Morning glory disc anomaly"},{"scope":"EXACT","text":"Morning glory disk anomaly"},{"scope":"EXACT","text":"Morning glory optic disc"}]} +{"alt_ids":[],"definition":"Later than normal development of the breasts.","id":"HP:0025515","name":"Delayed thelarche","obsolete":false,"parents":["HP:0000823"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery.","id":"HP:0025516","name":"Coronary-pulmonary artery fistula","obsolete":false,"parents":["HP:0011641"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of the hippocampus.","id":"HP:0025517","name":"Hypoplastic hippocampus","obsolete":false,"parents":["HP:0025100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small hippocampus"},{"scope":"EXACT","text":"Underdeveloped hippocampus"}]} +{"alt_ids":[],"definition":"An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion.","id":"HP:0025518","name":"Visual gaze preference","obsolete":false,"parents":["HP:0000496"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver.","id":"HP:0025519","name":"Multiple biliary hamartomas","obsolete":false,"parents":["HP:0100574"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Biliary hamartoma"},{"scope":"EXACT","text":"Multiple bile duct hamartomas"},{"scope":"EXACT","text":"Von Meyenburg complexes"}]} +{"alt_ids":[],"definition":"Deposition of calcium in the skin.","id":"HP:0025520","name":"Calcinosis cutis","obsolete":false,"parents":["HP:0010766"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cutaneous calcification"}]} +{"alt_ids":[],"definition":"The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males.","id":"HP:0025521","name":"Increased body fat percentage","obsolete":false,"parents":["HP:0001507"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increased in length of the chordae tendinae of the mitral valve.","id":"HP:0025522","name":"Elongated chordae tendinae of the mitral valve","obsolete":false,"parents":["HP:0025523"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve.","id":"HP:0025523","name":"Abnormal morphology of the chordae tendinae of the mitral valve","obsolete":false,"parents":["HP:0001633"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot.","id":"HP:0025524","name":"Palmoplantar scaling skin","obsolete":false,"parents":["HP:0040189"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Palmoplantar psoriasis"}]} +{"alt_ids":[],"definition":"Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips.","id":"HP:0025525","name":"Scaling skin on fingertip","obsolete":false,"parents":["HP:0040189"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus.","id":"HP:0025526","name":"Psoriasiform lesion","obsolete":false,"parents":["HP:0040189"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Erythemato-squamous plaque"},{"scope":"RELATED","text":"Erythematosquamous plaque"},{"scope":"EXACT","text":"Psoriatic-like lesion"}]} +{"alt_ids":[],"definition":"A skin lesion with a snake- or serpent-like distribution.","id":"HP:0025527","name":"Serpiginous cutaneous lesion","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Serpiginous eruption"}]} +{"alt_ids":[],"definition":"A lesion of the skin with a ring-like distribution.","id":"HP:0025528","name":"Annular cutaneous lesion","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A nodule of the skin that exhibits an increased amount of pigmentation.","id":"HP:0025529","name":"Hyperpigmented nodule","obsolete":false,"parents":["HP:0200036"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.","id":"HP:0025530","name":"Xanthomas of the palmar creases","obsolete":false,"parents":["HP:0000991"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Xanthoma palmare striatum"},{"scope":"EXACT","text":"Xanthoma striatum palmare"}]} +{"alt_ids":[],"definition":"The Harlequin phenomenon consists of a sudden change in skin color, resulting in two different body colors, one on each half of the body.","id":"HP:0025531","name":"Harlequin phenomenon","obsolete":false,"parents":["HP:0011122"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result.","id":"HP:0025532","name":"Positive pathergy test","obsolete":false,"parents":["HP:0011122"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0025533","name":"Peau d'orange","obsolete":false,"parents":["HP:0000969"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared.","id":"HP:0025534","name":"Ocular melanocytosis","obsolete":false,"parents":["HP:0000591"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Melanosis oculi"},{"scope":"EXACT","text":"Ocular melanosis"}]} +{"alt_ids":[],"definition":"Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back.","id":"HP:0025535","name":"Shawl sign","obsolete":false,"parents":["HP:0010783"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest.","id":"HP:0025536","name":"V-sign","obsolete":false,"parents":["HP:0010783"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal accumulation of fluid beneath the skin on sole of the foot.","id":"HP:0025537","name":"Plantar edema","obsolete":false,"parents":["HP:0100872"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Plantar oedema"}]} +{"alt_ids":[],"definition":"An abnormal accumulation of fluid beneath the skin on the palm of the hand.","id":"HP:0025538","name":"Palmar edema","obsolete":false,"parents":["HP:0040211"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Palmar oedema"}]} +{"alt_ids":[],"definition":"Abnormal increase or decrease of any B cell subpopulation, measured as percentage of total CD19+ or CD20+ B cells in the blood, compared to a reference range for a given sex and age-group.","id":"HP:0025539","name":"Abnormal B cell subset distribution","obsolete":false,"parents":["HP:0002846"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase or decrease of absolute number (either count per volume or percentage of total lymphocytes) of any T cell subpopulation, commonly characterized as CD3+ lymphocytes, in the blood, compared to a reference range for a given sex and age-group.","id":"HP:0025540","name":"Abnormal T cell subset number","obsolete":false,"parents":["HP:0002843"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Abnormal alpha-beta T cell morphology"}]} +{"alt_ids":[],"definition":null,"id":"HP:0025541","name":"obsolete Decreased activity of complement receptor","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.","id":"HP:0025546","name":"Abnormal mean corpuscular hemoglobin concentration","obsolete":false,"parents":["HP:0001877"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal MCH"},{"scope":"EXACT","text":"Abnormal MCHC"},{"scope":"EXACT","text":"Abnormal mean corpuscular Hb concentration"},{"scope":"EXACT","text":"Abnormal mean corpuscular haemoglobin"},{"scope":"EXACT","text":"Abnormal mean corpuscular haemoglobin concentration"}]} +{"alt_ids":[],"definition":"A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.","id":"HP:0025547","name":"Decreased mean corpuscular hemoglobin concentration","obsolete":false,"parents":["HP:0025546"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased MCH"},{"scope":"EXACT","text":"Decreased MCHC"},{"scope":"EXACT","text":"Decreased mean corpuscular Hb concentration"},{"scope":"EXACT","text":"Decreased mean corpuscular haemoglobin"},{"scope":"EXACT","text":"Decreased mean corpuscular haemoglobin concentration"}]} +{"alt_ids":[],"definition":"An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell).","id":"HP:0025548","name":"Increased mean corpuscular hemoglobin concentration","obsolete":false,"parents":["HP:0025546"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased MCH"},{"scope":"EXACT","text":"Increased MCHC"},{"scope":"EXACT","text":"Increased mean corpuscular Hb concentration"},{"scope":"EXACT","text":"Increased mean corpuscular haemoglobin"},{"scope":"EXACT","text":"Increased mean corpuscular haemoglobin concentration"}]} +{"alt_ids":[],"definition":"A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees.","id":"HP:0025549","name":"Eccentric visual fixation","obsolete":false,"parents":["HP:0025404"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eccentric fixation"}]} +{"alt_ids":["HP:0034933"],"definition":"The concentration of ribitol in the blood circulation is above the upper limit of normal.","id":"HP:0025550","name":"Elevated circulating ribitol concentration","obsolete":false,"parents":["HP:0020349"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased circulating ribitol concentration"},{"scope":"EXACT","text":"Increased level of ribitol in serum"}]} +{"alt_ids":[],"definition":"Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp).","id":"HP:0025551","name":"Optic nerve misrouting","obsolete":false,"parents":["HP:0000587"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Optic pathway misrouting"},{"scope":"EXACT","text":"Visual pathway misrouting"}]} +{"alt_ids":[],"definition":"Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding.","id":"HP:0025552","name":"Periorbital purpura","obsolete":false,"parents":["HP:0000606"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Subcutaneous bleeding with a diameter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate.","id":"HP:0025553","name":"Periorbital ecchymosis with tarsal plate sparing","obsolete":false,"parents":["HP:0000606"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Raccoon eyes"}]} +{"alt_ids":[],"definition":"A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion).","id":"HP:0025554","name":"Yellow nodule","obsolete":false,"parents":["HP:0200036"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails.","id":"HP:0025555","name":"Periungual teleangiectasia","obsolete":false,"parents":["HP:0100585"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens.","id":"HP:0025558","name":"Lamellar cataract with riders","obsolete":false,"parents":["HP:0007971"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of cataract characterized by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown.","id":"HP:0025559","name":"Coronary cataract","obsolete":false,"parents":["HP:0010920"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.","id":"HP:0025560","name":"Anterior chamber cells","obsolete":false,"parents":["HP:0000593"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.","id":"HP:0025561","name":"Anterior chamber cells grade 1+","obsolete":false,"parents":["HP:0025560"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.","id":"HP:0025562","name":"Anterior chamber cells grade 0.5+","obsolete":false,"parents":["HP:0025560"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.","id":"HP:0025563","name":"Anterior chamber cells grade 0","obsolete":false,"parents":["HP:0025560"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.","id":"HP:0025564","name":"Anterior chamber cells grade 2+","obsolete":false,"parents":["HP:0025560"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.","id":"HP:0025565","name":"Anterior chamber cells grade 3+","obsolete":false,"parents":["HP:0025560"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.","id":"HP:0025566","name":"Anterior chamber cells grade 4+","obsolete":false,"parents":["HP:0025560"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the center of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months.","id":"HP:0025567","name":"Central serous chorioretinopathy","obsolete":false,"parents":["HP:0000532"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0025568","name":"obsolete Abnormal morphology of the choroidal vasculature","obsolete":true,"parents":[],"replaced_by":["HP:0000610"],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of aneurysmal 'polypoidal' lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization.","id":"HP:0025569","name":"Polypoidal choroidal vasculopathy","obsolete":false,"parents":["HP:0000610"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA).","id":"HP:0025570","name":"Choroidal vascular hyperpermeability","obsolete":false,"parents":["HP:0000610","HP:0030605"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Choroidal hyperpermeability"}]} +{"alt_ids":[],"definition":"A type of cataract that shows a spectacular display of multiple colors that glitters with the change of incident light like an illuminated Christmas tree.","id":"HP:0025571","name":"Christmas tree cataract","obsolete":false,"parents":["HP:0000518"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded.","id":"HP:0025572","name":"Punctal stenosis","obsolete":false,"parents":["HP:0011479"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lacrimal punctum stenosis"},{"scope":"EXACT","text":"Stenosis of the lacrimal punctum"}]} +{"alt_ids":[],"definition":"A mild form of myopia with up to -3.00 diopters.","id":"HP:0025573","name":"Mild myopia","obsolete":false,"parents":["HP:0000545"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bleeding occurring within the macula lutea of the retina.","id":"HP:0025574","name":"Macular hemorrhage","obsolete":false,"parents":["HP:0000573","HP:0001103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Macular haemorrhage"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart.","id":"HP:0025575","name":"Abnormal superior vena cava morphology","obsolete":false,"parents":["HP:0005345"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the principal vein draining blood from the lower portion of the body.","id":"HP:0025576","name":"Abnormal inferior vena cava morphology","obsolete":false,"parents":["HP:0005345"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus.","id":"HP:0025578","name":"Aortic valve prolapse","obsolete":false,"parents":["HP:0001646"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural abnormality of the left atrium.","id":"HP:0025579","name":"Abnormal left atrium morphology","obsolete":false,"parents":["HP:0005120"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural abnormality of the right atrium.","id":"HP:0025580","name":"Abnormal right atrium morphology","obsolete":false,"parents":["HP:0005120"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bleeding occurring within the fovea.","id":"HP:0025581","name":"Foveal hemorrhage","obsolete":false,"parents":["HP:0025574"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foveal haemorrhage"}]} +{"alt_ids":[],"definition":"Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.","id":"HP:0025582","name":"Submacular hemorrhage","obsolete":false,"parents":["HP:0025243","HP:0025574"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sub-macular haemorrhage"},{"scope":"EXACT","text":"Sub-macular hemorrhage"},{"scope":"EXACT","text":"Submacular haemorrhage"}]} +{"alt_ids":[],"definition":"Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this 'metallic' sheen appearance as it is thought to be similar to the 'tapetal' reflex seen in the eyes of certain animals.","id":"HP:0025583","name":"Tapetal-like fundal reflex","obsolete":false,"parents":["HP:0001098"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open.","id":"HP:0025584","name":"Hypotropia","obsolete":false,"parents":["HP:0025588","HP:0032012"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Tendency for the visual axis of one eye to be higher than that of the other.","id":"HP:0025585","name":"Hyperphoria","obsolete":false,"parents":["HP:0025587","HP:0032011"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of strabismus characterized by permanent upward deviation of the visual axis of one eye.","id":"HP:0025586","name":"Hypertropia","obsolete":false,"parents":["HP:0025587","HP:0032012"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of strabismus in which the visual axis of one eye is higher than that of the other.","id":"HP:0025587","name":"Hyperdeviation","obsolete":false,"parents":["HP:0000486"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of strabismus in which the visual axis of one eye is lower than that of the other.","id":"HP:0025588","name":"Hypodeviation","obsolete":false,"parents":["HP:0000486"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes.","id":"HP:0025589","name":"Cyclodeviation","obsolete":false,"parents":["HP:0000486"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional anomaly of the muscles of the eye.","id":"HP:0025590","name":"Abnormal extraocular muscle physiology","obsolete":false,"parents":["HP:0012373"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve.","id":"HP:0025591","name":"Abnormal superior oblique muscle physiology","obsolete":false,"parents":["HP:0031739"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased strength of the superior oblique muscle.","id":"HP:0025592","name":"Superior oblique muscle weakness","obsolete":false,"parents":["HP:0025591"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Superior oblique palsy"}]} +{"alt_ids":[],"definition":"Mechanical limitation of the range of movement of the superior oblique muscle.","id":"HP:0025593","name":"Superior oblique muscle restriction","obsolete":false,"parents":["HP:0025592"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occurring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye.","id":"HP:0025594","name":"Superior oblique muscle overaction","obsolete":false,"parents":["HP:0025591"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy.","id":"HP:0025595","name":"Superior oblique muscle underaction","obsolete":false,"parents":["HP:0025592"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Under-depression in adduction"}]} +{"alt_ids":[],"definition":"A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve.","id":"HP:0025596","name":"Abnormal inferior oblique muscle physiology","obsolete":false,"parents":["HP:0031739"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Mechanical limitation of the range of movement of the inferior oblique muscle.","id":"HP:0025597","name":"Inferior oblique muscle restriction","obsolete":false,"parents":["HP:0025598"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased strength of the inferior oblique muscle.","id":"HP:0025598","name":"Inferior oblique muscle weakness","obsolete":false,"parents":["HP:0025596"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inferior oblique palsy"}]} +{"alt_ids":[],"definition":"A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye.","id":"HP:0025599","name":"Inferior oblique muscle overaction","obsolete":false,"parents":["HP:0025596"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye.","id":"HP:0025600","name":"Abnormal inferior rectus muscle physiology","obsolete":false,"parents":["HP:0031748"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased strength of the inferior rectus muscle.","id":"HP:0025601","name":"Inferior rectus muscle weakness","obsolete":false,"parents":["HP:0025600"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Mechanical limitation of the range of movement of the inferior rectus muscle.","id":"HP:0025602","name":"Inferior rectus muscle restriction","obsolete":false,"parents":["HP:0025601"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe.","id":"HP:0025603","name":"Abnormal superior rectus muscle physiology","obsolete":false,"parents":["HP:0031748"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit.","id":"HP:0025604","name":"Orbital schwannoma","obsolete":false,"parents":["HP:0100012"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign.","id":"HP:0025605","name":"Lid lag on downgaze","obsolete":false,"parents":["HP:0031785"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eyelid lag"},{"scope":"EXACT","text":"Lid lag"},{"scope":"RELATED","text":"von Graefe sign"}]} +{"alt_ids":[],"definition":"A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball.","id":"HP:0025606","name":"Abnormal medial rectus muscle physiology","obsolete":false,"parents":["HP:0031740"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An inward turning (inversion) of the margin of the upper eyelid.","id":"HP:0025607","name":"Upper eyelid entropion","obsolete":false,"parents":["HP:0000621"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring.","id":"HP:0025608","name":"Cicatricial ectropion","obsolete":false,"parents":["HP:0000656"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles.","id":"HP:0025609","name":"Anterior blepharitis","obsolete":false,"parents":["HP:0000498"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of blepharitis that affects the meibomian glands and meibomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia.","id":"HP:0025610","name":"Posterior blepharitis","obsolete":false,"parents":["HP:0000498"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Meibomian gland disease"},{"scope":"EXACT","text":"Meibomian gland dysfunction"}]} +{"alt_ids":[],"definition":"A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye).","id":"HP:0025611","name":"Epicanthus superciliaris","obsolete":false,"parents":["HP:0000286"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea.","id":"HP:0025612","name":"Corneal astigmatism","obsolete":false,"parents":["HP:0000483"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer.","id":"HP:0025613","name":"Focal emotional seizure","obsolete":false,"parents":["HP:0032679"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Affective seizure"},{"scope":"EXACT","text":"Emotional seizure"},{"scope":"EXACT","text":"Focal affective seizure"},{"scope":"EXACT","text":"Partial emotional seizure"}]} +{"alt_ids":[],"definition":"An abscess is a localized collection of purulent material surrounded by inflammation and granulation.","id":"HP:0025615","name":"Abscess","obsolete":false,"parents":["HP:0032251"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms.","id":"HP:0025616","name":"Sterile abscess","obsolete":false,"parents":["HP:0025615"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal number of plasma cells in the blood circulation. Plasma cells are terminally differentiated B cells dedicated to the production of a high amount of antibodies.","id":"HP:0025617","name":"Abnormal total plasma cell count","obsolete":false,"parents":["HP:0002846"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.","id":"HP:0025618","name":"Reduced plasma cell count","obsolete":false,"parents":["HP:0025617"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.","id":"HP:0025619","name":"Elevated plasma cell count","obsolete":false,"parents":["HP:0025617"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0025620","name":"obsolete Abnormal CD4+ central memory T cell proportion","obsolete":true,"parents":[],"replaced_by":["HP:0031392"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0025621","name":"obsolete Increased proportion of CD4+ central memory cells","obsolete":true,"parents":[],"replaced_by":["HP:0410393"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0025622","name":"obsolete Decreased proportion of CD4+ central memory cells","obsolete":true,"parents":[],"replaced_by":["HP:0410388"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0025623","name":"obsolete Abnormal CD4+ effector memory T cell proportion","obsolete":true,"parents":[],"replaced_by":["HP:0410379"],"synonyms":[]} +{"alt_ids":["HP:0410387"],"definition":"An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.","id":"HP:0025624","name":"Decreased effector memory CD4+ T cell proportion","obsolete":false,"parents":["HP:0410386","HP:5210409"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased proportion of CD4-positive effector memory T cells"},{"scope":"EXACT","text":"Decreased proportion of effector memory CD4-positive, alpha-beta T cells"}]} +{"alt_ids":["HP:0410394"],"definition":"An abnormally increased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype.","id":"HP:0025625","name":"Increased effector memory CD4+ T cell proportion","obsolete":false,"parents":["HP:0410391","HP:5210409"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased CD4+ effector memory T cell proportion"},{"scope":"EXACT","text":"Increased effector memory CD4-positive T cell proportion"},{"scope":"EXACT","text":"Increased proportion of CD4+ effector memory T cells"},{"scope":"EXACT","text":"Increased proportion of CD4-positive effector memory T cells"},{"scope":"EXACT","text":"Increased proportion of effector CD4-positive, alpha-beta T cells"}]} +{"alt_ids":[],"definition":"An abnormally high concentration of oleic acid (oleate) in the blood circulation.","id":"HP:0025626","name":"Increased circulating oleate level","obsolete":false,"parents":["HP:0003455"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid).","id":"HP:0025627","name":"Increased circulating octadecanoate level","obsolete":false,"parents":["HP:0003455"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally high concentration of myristoleate in the blood circulation.","id":"HP:0025628","name":"Increased circulating myristoleate level","obsolete":false,"parents":["HP:0003455"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG).","id":"HP:0025629","name":"Anti-myelin-associated glycoprotein antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased amount of argininosuccinate in the urine.","id":"HP:0025630","name":"Argininosuccinic aciduria","obsolete":false,"parents":["HP:0033097"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased amount of alpha-aminobutyric acid in the urine.","id":"HP:0025631","name":"Alpha-aminobutyric aciduria","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0025632","name":"obsolete Reduced reactive oxygen species production in neutrophils","obsolete":true,"parents":[],"replaced_by":["HP:0003203"],"synonyms":[]} +{"alt_ids":[],"definition":"A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.","id":"HP:0025633","name":"Abnormal ureter morphology","obsolete":false,"parents":["HP:0000069"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.","id":"HP:0025634","name":"Abnormal ureter physiology","obsolete":false,"parents":["HP:0000069"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A growth protruding from the mucous membrane of the ureter. Ureteral polyps can be attached to the ureter by a broad base or a thin stalk.","id":"HP:0025635","name":"Ureteral polyp","obsolete":false,"parents":["HP:0100516"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Polyp of the ureter"},{"scope":"EXACT","text":"Ureter polyp"}]} +{"alt_ids":[],"definition":"Inflammation of the inner lining of the uterus (endometrium).","id":"HP:0025636","name":"Endometritis","obsolete":false,"parents":["HP:0030126"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Endometrial inflammation"},{"scope":"EXACT","text":"Inflammation of the inner lining of the uterus"}]} +{"alt_ids":[],"definition":"Narrowing of an artery due to constriction of the blood vessels.","id":"HP:0025637","name":"Vasospasm","obsolete":false,"parents":["HP:0025323"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Angiospasm"},{"scope":"EXACT","text":"Blood vessel spasm"},{"scope":"EXACT","text":"Vascular spasm"}]} +{"alt_ids":[],"definition":"An increased level of N-butyrylglycine in the urine.","id":"HP:0025638","name":"Elevated urinary N-butyrylglycine","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection.","id":"HP:0025639","name":"Increased urinary zinc level","obsolete":false,"parents":["HP:0025640"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium.","id":"HP:0025640","name":"Abnormal urinary mineral level","obsolete":false,"parents":["HP:0003110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of glycolate in the blood circulation is above the upper limit of normal.","id":"HP:0025641","name":"Elevated circulating glycolate concentration","obsolete":false,"parents":["HP:0010996"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A cerebrospinal fluid-filled nerve root cyst most often localized in the sacral spine.","id":"HP:0025643","name":"Tarlov cyst","obsolete":false,"parents":["HP:0030724"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Perineural cyst"}]} +{"alt_ids":[],"definition":"Fixation off sensitivity (FOS) is characterized by posterior or generalized epileptiform discharges that consistently occur with conditions that eliminate central vision, such as closed eyes, complete darkness, modified Ganzfeld stimulation (using a large white surface without visual cues), and Frenzel lenses. The FOS electroencephalogram (EEG) pattern usually consists of spikes/polyspikes and waves localized in occipital regions (bilateral or unilateral) or generalized discharges. It is usually inhibited by fixation of gaze, observing patterns, or intermittent photic stimulation (e.g., flashing light or patterns used as stimuli during the recording of the EEG).","id":"HP:0025644","name":"Fixation-off epileptiform discharges","obsolete":false,"parents":["HP:0011182"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fixation-off sensitivity"}]} +{"alt_ids":[],"definition":"Polymicrogyria that affects all or some of both cerebral hemispheres.","id":"HP:0025646","name":"Bilateral polymicrogyria","obsolete":false,"parents":["HP:0002126"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of nephrotic syndrome in which complete remission (albumin urine dipstick negative/trace or proteinuria <4mg/m2/d or urinary protein to creatinine ratio <200mg/g (<20 mg/mmol) for 3 consecutive days) is achieved within initial 4 weeks of corticosteroid therapy.","id":"HP:0025647","name":"Steroid-sensitive nephrotic syndrome","obsolete":false,"parents":["HP:0000100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"SSNS"}]} +{"alt_ids":[],"definition":"A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period.","id":"HP:0025648","name":"Steroid-sensitive nephrotic syndrome with infrequent relapses","obsolete":false,"parents":["HP:0025647"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period.","id":"HP:0025649","name":"Steroid-sensitive nephrotic syndrome with frequent relapses","obsolete":false,"parents":["HP:0025647"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy.","id":"HP:0025650","name":"Steroid-dependent nephrotic syndrome","obsolete":false,"parents":["HP:0000100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"SDNS"}]} +{"alt_ids":[],"definition":"Abnormal placental adhesion is characterized by an anomalous adherence of the placenta to the uterine wall. Based on the degree of adhesion, placental invasion can be classified into accreta, increta, or percreta.","id":"HP:0025652","name":"Abnormal placental adhesion into the uterine wall","obsolete":false,"parents":["HP:0100767"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Placenta percreta is a rare form of morbidly adherent placenta with penetration through the myometrium reaching serosa and even adjacent pelvic organs.","id":"HP:0025653","name":"Placenta percreta","obsolete":false,"parents":["HP:0025652"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal placental pentration beyond the uterine wall"}]} +{"alt_ids":[],"definition":"Abnormally firm adherence of the placenta to the uterine wall.","id":"HP:0025654","name":"Placenta accreta","obsolete":false,"parents":["HP:0025652"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal placental pentration into but not beyond the uterine wall.","id":"HP:0025655","name":"Placenta increta","obsolete":false,"parents":["HP:0025652"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Sonographic detection of a double bubble sign in the upper abdomen is strongly indicative of duodenal obstruction. One bubble represents fetal stomach, and the other is attributed to a dilated proximal part of the duodenum; continuity between both bubbles is required for the sign.","id":"HP:0025656","name":"Prenatal double bubble sign","obsolete":false,"parents":["HP:0034207"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0025657","name":"Abnormal umbilical blood flow measurement","obsolete":false,"parents":["HP:0010881","HP:0034059"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0025658","name":"obsolete Abnormal umbilical artery Doppler pattern in pregnancy","obsolete":true,"parents":[],"replaced_by":["HP:0025715"],"synonyms":[]} +{"alt_ids":[],"definition":"The activity of creatine kinase in the blood circulation is below the lower limit of normal.","id":"HP:0025659","name":"Decreased circulating creatine kinase activity","obsolete":false,"parents":["HP:0040081"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased creatine kinase concentration"},{"scope":"EXACT","text":"Decreased creatine kinase level"},{"scope":"EXACT","text":"Decreased creatine kinase level in blood"},{"scope":"EXACT","text":"Reduced creatine kinase concentration"},{"scope":"EXACT","text":"Reduced creatine kinase level"},{"scope":"EXACT","text":"Reduced creatine kinase level in blood"}]} +{"alt_ids":[],"definition":"A type of Chiari malformation that consists of brainstem herniation and a towering cerebellum in addition to the herniated cerebellar tonsils and vermis due to an open distal spinal dysraphism/myelomeningocele.","id":"HP:0025660","name":"Chiari type II malformation","obsolete":false,"parents":["HP:0002308"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Arnold-Chiari type II malformation"}]} +{"alt_ids":[],"definition":"A type of Chiari malformation that involves herniation of the hindbrain (cerebellum with or without the brainstem) into a low occipital or high cervical meningoencephalocele.","id":"HP:0025661","name":"Chiari type III malformation","obsolete":false,"parents":["HP:0002308"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Arnold-Chiari type III malformation"}]} +{"alt_ids":[],"definition":"An anomalous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes.","id":"HP:0025662","name":"Abnormal fetal skeletal morphology","obsolete":false,"parents":["HP:0011842","HP:0034058"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This ratio relates the length of the fetal femur to that of the fetal foot. The ratio is approximately 1 throughout the age range of 14 to 40 weeks of gestation. A substantial reduction in the raio can help differentiate fetuses that have dysplastic limb reduction from those whose limbs are short because of constitutional factors or IUGR. It can reduce the problem of an unknown gestational age and help to distinguish between fetal skeletal dysplasia and intrauterine growth retardation caused by other factors.","id":"HP:0025663","name":"Reduced fetal femur/foot length ratio","obsolete":false,"parents":["HP:0025662"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Birth at 32 to 36 completed weeks of gestation.","id":"HP:0025664","name":"Moderate to late preterm birth","obsolete":false,"parents":["HP:0001622"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Birth before 28 completed weeks of gestation (up to and including 27 weeks and 6 days of gestation).","id":"HP:0025665","name":"Extremely preterm birth","obsolete":false,"parents":["HP:0001622"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Birth before 32 completed weeks of gestation (28 up to but not including 32 weeks).","id":"HP:0025666","name":"Very preterm birth","obsolete":false,"parents":["HP:0001622"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly in the fetal neck region. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.","id":"HP:0025667","name":"Fetal neck anomaly","obsolete":false,"parents":["HP:0025668","HP:0034058"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the neck region.","id":"HP:0025668","name":"Abnormal neck morphology","obsolete":false,"parents":["HP:0000464"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any functional anomaly of the neck region.","id":"HP:0025669","name":"Abnormal neck physiology","obsolete":false,"parents":["HP:0000464"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Syntelencephaly is a rare malformation that consists of an abnormal midline connection of the cerebral hemispheres in the posterior frontal and parietal regions, with interhemispheric separation of the basal forebrain, anterior frontal lobes, and occipital regions.","id":"HP:0025670","name":"Syntelencephaly","obsolete":false,"parents":["HP:0001360"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms.","id":"HP:0025671","name":"Fetal pericardial effusion","obsolete":false,"parents":["HP:0010948"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A separation of skin in one or more regions of the body or even along the entire length of body wall (to a degree greater than gestational-age related norms) related to pathologically increased fluid accumulation in the subcutaneous tissue.","id":"HP:0025672","name":"Fetal skin edema","obsolete":false,"parents":["HP:0000969","HP:0025723"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of ascites (peritoneal fluid collection) that is divided into loculi (compartments) by septa (fibrous walls). Ascites fluid can become loculated when confined by adhesions, malignancy or infection.","id":"HP:0025673","name":"Loculated ascites","obsolete":false,"parents":["HP:0001541"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Septated ascites"}]} +{"alt_ids":[],"definition":"A meconium-containing cyst in the peritoneal space . Meconium pseudocysts form in the presence of meconium peritonitis, which is defined as a sterile peritonitis caused by escape of meconium from the intestinal tract into the general peritoneal cavity during the fetal or perinatal period. When the extruded meconium becomes walled off, it can form a rim-calcified mass representing the meconium pseudocyst.","id":"HP:0025674","name":"Meconium pseudocyst","obsolete":false,"parents":["HP:0034207"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A prenatal partial or complete closure of the ductus arteriosus (i.e., prior to delivery).","id":"HP:0025675","name":"Premature closure of the ductus arteriosus","obsolete":false,"parents":["HP:0034190"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fetal PAD narrowing-closure"},{"scope":"EXACT","text":"Fetal PDA narrowing-closure"},{"scope":"EXACT","text":"Fetal arterial duct narrowing-closure"},{"scope":"EXACT","text":"Fetal ductus arteriosus narrowing-closure"},{"scope":"EXACT","text":"Foetal PAD narrowing-closure"},{"scope":"EXACT","text":"Foetal PDA narrowing-closure"},{"scope":"EXACT","text":"Foetal arterial duct narrowing-closure"},{"scope":"EXACT","text":"Foetal ductus arteriosus narrowing-closure"},{"scope":"EXACT","text":"Idiopathic constriction of the fetal ductus arteriosus"},{"scope":"EXACT","text":"Idiopathic constriction of the foetal ductus arteriosus"},{"scope":"EXACT","text":"PCDA"}]} +{"alt_ids":[],"definition":"Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops.","id":"HP:0025676","name":"Fetal pleural effusion","obsolete":false,"parents":["HP:0034243"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of chyle (a type of lipid-rich lymph) in the pleural space (the space surrounding the lung) as observed in a fetus.","id":"HP:0025677","name":"Fetal chylothorax","obsolete":false,"parents":["HP:0025676"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of lymphatic fluid in the pleural space. This finding is usually observed by prenatal sonography. Once neonatal feeding is established and the lymphatic fluid contains chyle, transformation to chylothorax may be observed.","id":"HP:0025678","name":"Fetal hydrothorax","obsolete":false,"parents":["HP:0025676"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of an intervertebral disk or disk space.","id":"HP:0025679","name":"Diskitis","obsolete":false,"parents":["HP:0005108"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Discitis"}]} +{"alt_ids":[],"definition":"Compound muscle action potential amplitude (CMAP) facilitation denotes an increase in tendon reflexes, strength, or CMAP amplitude after 10 seconds of maximal voluntary contraction.","id":"HP:0025680","name":"Compound muscle action potential amplitude facilitation","obsolete":false,"parents":["HP:0030179"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CMAP facilitation"}]} +{"alt_ids":[],"definition":"Abnormally reduced diameter (cross section) of the clavicles that is limited to the distal region.","id":"HP:0025681","name":"Distal clavicular thinning","obsolete":false,"parents":["HP:0006645"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A gait disturbance that is characterized by excessive ankle dorsiflexion, knee and hip flexion during the stance phase.","id":"HP:0025682","name":"Crouch gait","obsolete":false,"parents":["HP:0001288"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta42, which is 42 amino acids in length, is the longer form.","id":"HP:0025683","name":"Abnormal amyloid beta 42 peptide CSF concentration","obsolete":false,"parents":["HP:0025688"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF).","id":"HP:0025684","name":"Decreased amyloid beta 42 peptide CSF concentration","obsolete":false,"parents":["HP:0025683"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevation above the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF).","id":"HP:0025685","name":"Increased amyloid beta 42 peptide CSF concentration","obsolete":false,"parents":["HP:0025683"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta40, which is 40 amino acids in length, is the shorter form.","id":"HP:0025686","name":"Abnormal amyloid beta 40 peptide CSF concentration","obsolete":false,"parents":["HP:0025688"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal Abeta 40 level"},{"scope":"EXACT","text":"Abnormal beta amyloid 40 level"}]} +{"alt_ids":[],"definition":"An elevation above the normal concentration of amyloid beta 40 peptide in the cerebrospinal fluid (CSF).","id":"HP:0025687","name":"Increased amyloid beta 40 peptide CSF concentration","obsolete":false,"parents":["HP:0025686"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly in the concentration of a cleaved APP amyloid beta protein fragment in the cerebrospinal fluid.","id":"HP:0025688","name":"Abnormal amyloid beta peptide CSF concentration","obsolete":false,"parents":["HP:0025456"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal dilatation of the extra-abdominal portion of the umbilical vein. An extra-abdominal umbilical varix is difficult to diagnose prenatally as it can appear like a cyst on ultrasound prior to birth.","id":"HP:0025689","name":"Extra-abdominal umbilical vein varix","obsolete":false,"parents":["HP:0030656"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fetal intra-abdominal umbilical vein varix (FIUVV) is defined by the focal dilatation of the fetal umbilical vein between its entry in the abdomen and its ending in the portal system. The dilatation can be defined using one of the following criteria: a portion of intra-abdominal umbilical vein that is at least 50% wider than the non-dilated portion; a dilatation of 9 mm or more, or a dilatation greater than 2 SD above the mean value for gestational age.","id":"HP:0025690","name":"Fetal intra-abdominal umbilical vein varix","obsolete":false,"parents":["HP:0030656"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"FIUVV"},{"scope":"EXACT","text":"Fetal umbilical vein dilatation"},{"scope":"EXACT","text":"Foetal umbilical vein dilatation"}]} +{"alt_ids":[],"definition":"Impaired fasting glucose (IFG) is indicated by a fasting plasma glucose above normal but below the diabetic range. Levels between 110 mg/dl (6.1 mmol/l) to 125 mg/dl (6.9 mmol/l) are diagnostic of IFG.","id":"HP:0025691","name":"Impaired fasting glucose","obsolete":false,"parents":["HP:0003074"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A defect of development of the brain characterized by absence of the telencephalon (embryonic structure from which the mature cerebrum develops).","id":"HP:0025692","name":"Atelencephaly","obsolete":false,"parents":["HP:0007364"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A pituitary gland adenoma that is larger than 10mm.","id":"HP:0025693","name":"Pituitary macroadenoma","obsolete":false,"parents":["HP:0002893"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pituitary gland macroadenoma"}]} +{"alt_ids":[],"definition":"A pituitary adenoma that is less than 10 mm in diameter.","id":"HP:0025694","name":"Pituitary microadenoma","obsolete":false,"parents":["HP:0002893"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Mucus that is abnormally thick in consistency (ie, inspissated) and plugs the airway is known as a mucus plug. Mucus plugs consist of mucins and cells and can partially or completely obstruct one or more airways and cause serious consequences, including atelectasis and recurrent infection.","id":"HP:0025695","name":"Mucus plug","obsolete":false,"parents":["HP:0002088"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A replicate of airways from accumulated and condensed mucous and cellular material. These semisolid occlusions take the shape of the airway within they are formed, leading to obstruction of the tracheobronchial tree with consecutive respiratory insufficiency. Based on their principal composition, one can differentiate fibrin casts and mucin casts. Plastic bronchitis is the name of the condition characterized by the formation of airway casts.","id":"HP:0025696","name":"Airway casts","obsolete":false,"parents":["HP:0025426"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of airway casts that consist of plasma components and inflammatory cells.","id":"HP:0025697","name":"Fibrin casts","obsolete":false,"parents":["HP:0025696"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cellular airway casts"},{"scope":"EXACT","text":"Diphtheroid membranes"},{"scope":"EXACT","text":"Pseudomembranes"},{"scope":"EXACT","text":"Type I airway casts"}]} +{"alt_ids":[],"definition":"A type of airway casts that consist of impacted mucus.","id":"HP:0025698","name":"Mucin casts","obsolete":false,"parents":["HP:0025696"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acellular airway casts"},{"scope":"EXACT","text":"Type II airway casts"}]} +{"alt_ids":[],"definition":"18F-fluorodeoxyglucose (FDG) positron emission tomography and computed tomography (FDG-PET/CT) evaluates the glucose metabolism of the brain. FDG uptake is interpreted to represent glycolysis. This term therefore represents an abnormally increased FDG uptake (increased glucose metabolism) in the region of the brain that surrounds the Sylvian fissure.","id":"HP:0025699","name":"Perisylvian FDG hypermetabolism","obsolete":false,"parents":["HP:0012638"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Perisylvian hypermetabolism in FDG PET"}]} +{"alt_ids":[],"definition":"A complete or near-complete lack of amniotic fluid surrounding a fetus. This finding can be observed sonographically in the third trimesters if the deepest pocket of amniotic fluid is less than or equal to 2 cm.","id":"HP:0025700","name":"Anhydramnios","obsolete":false,"parents":["HP:0001560"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The jugular lymphatic sacs (JLS) are a physiological and temporary part of fetal lymphatic development. They are formed from small buds of lymphatic endothelial cells arising from the internal jugular veins. By 14 weeks gestation they have developed into lymphatic nodes which drain into the systemic circulation. Visibility of JLS on ultrasound past 14 weeks of gestation implies distension and this may be associated with raised nuchal translucency.","id":"HP:0025701","name":"Distended jugular lymphatic sacs","obsolete":false,"parents":["HP:0025667"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of Schizencephaly in which there is a trans-mantle column of abnormal gray matter but no evidence of a CSF-containing cleft on MR imaging.","id":"HP:0025702","name":"Type 1 schizencephaly","obsolete":false,"parents":["HP:0010636"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Trans-mantle schizencephaly"}]} +{"alt_ids":[],"definition":"A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal gray matter that are opposed to each other.","id":"HP:0025703","name":"Type 2 schizencephaly","obsolete":false,"parents":["HP:0010636"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal gray matter.","id":"HP:0025704","name":"Type 3 schizencephaly","obsolete":false,"parents":["HP:0010636"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age.","id":"HP:0025705","name":"Abnormal fetal nasal bone visualization","obsolete":false,"parents":["HP:0025662"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The nasal bone is considered absent when it is not visualized on a midsagittal view of the profile. In the second trimester, a true midsagittal view of the fetal profile is obtained and magnified to fill the majority of the image space. The nasal bone appears as an echogenic linear structure below the skin edge. The optimal angle of insonation is 45 degrees to the longitudinal axis of the fetal nasal bone. If the angle of insonation is 0 or 180 degrees, the nasal bone may appear artificially absent. The presence or absence of the nasal bone may be determined at the time of the 11- to 14-week ultrasound examination and used as part of the risk assessment for aneuploidy.","id":"HP:0025706","name":"Absent fetal nasal bone","obsolete":false,"parents":["HP:0025705"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of fetal nasal bone"},{"scope":"EXACT","text":"Absence of foetal nasal bone"},{"scope":"EXACT","text":"Unossified nasal bone"}]} +{"alt_ids":[],"definition":"Length of the nasal bone below a predetermined cut-off as seen on antenatal ultrasound using standard imaging techniques.","id":"HP:0025707","name":"Hypoplastic fetal nasal bone","obsolete":false,"parents":["HP:0025705"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Onset of disease at an age of greater than or equal to 16 to under 19 years.","id":"HP:0025708","name":"Early young adult onset","obsolete":false,"parents":["HP:0011462"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Onset of disease at an age of greater than or equal to 19 to under 25 years.","id":"HP:0025709","name":"Intermediate young adult onset","obsolete":false,"parents":["HP:0011462"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Onset of disease at an age of greater than or equal to 25 to under 40 years.","id":"HP:0025710","name":"Late young adult onset","obsolete":false,"parents":["HP:0011462"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Convergence-retraction nystagmus is an irregular, jerky nystagmus in which both eyeballs rhythmically converge and retract into the orbit, particularly on attempting an upward gaze.","id":"HP:0025711","name":"Convergence-retraction nystagmus","obsolete":false,"parents":["HP:0000639"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Convergence retraction nystagmus"}]} +{"alt_ids":[],"definition":"Persistence separation of the chorionic and amnionic membranes after the 16th week of gestation (not as a result of a procedure such as amniocentesis).","id":"HP:0025712","name":"Spontaneous chorioamniotic separation","obsolete":false,"parents":["HP:0011409"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Amnion-chorion separation"}]} +{"alt_ids":[],"definition":"Dystrophic neurites are abnormal neuronal processes characterized microscopically by aberrant sprouting, dystrophic expansion, and accumulation of various cellular organelles and cytoskeletal/signaling proteins.","id":"HP:0025713","name":"Neurite dystrophy","obsolete":false,"parents":["HP:0012757"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dystrophic neurite"}]} +{"alt_ids":[],"definition":"An infarct located on the outer layer of the cerebrum that can only be observed microscopically. Cerebral microinfarcts are typically defined as sharply delimited microscopic regions of cellular death or tissue necrosis, sometimes with cavitation (that is, a central fluid-filled cavity). The term microscopic denotes that these lesions are not visible by gross inspection of the brain but seen by light microscopy. The term infarct is most commonly used for ischemia-related tissue loss, and indeed the pathologic appearance of microinfarcts is consistent with that of known ischemic infarctions.","id":"HP:0025714","name":"Cerebral cortical microinfarct","obsolete":false,"parents":["HP:0002538"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0025658"],"definition":"Abnormal waveforms the Doppler sonographic examination of bloodflow in the umbilical artery. vUmbilical arterial Doppler assessment is used in surveillance of fetal health in the third trimester.","id":"HP:0025715","name":"Abnormal umbilical artery doppler waveform during pregnancy","obsolete":false,"parents":["HP:0025657"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Low hemoglobin/hematocrit in a fetus as evidenced by percutaneous umbilical cord sampling and Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery.","id":"HP:0025716","name":"Fetal anemia","obsolete":false,"parents":["HP:0034059"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal accumulation of autophagosomes in skeletal muscle tissue.","id":"HP:0025717","name":"Skeletal muscle autophagosome accumulation","obsolete":false,"parents":["HP:0004303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Autophagic material in muscle biopsy"}]} +{"alt_ids":[],"definition":"An increased echo intensity of muscle tissue on sonography, defined as an increased amount of returning echoes per square area of muscle tissue. On cross-section, normal muscle appears as a relatively anechoic structure with hyperechoic speckles within the tissue representing perimysial septa, giving it a starry night appearance. The boundaries of each muscle are delineated by the presence of hyperechoic fascia. In muscle disorders, one of the hallmark findings is replacement of healthy muscle with fat and fibrosis, manifested by an increase in echogenicity from higher sound transitions in the muscle. This increase in echogenicity is most distinct in conditions that lead to chronic pathology, such as long-standing muscle inflammation, dystrophy, or denervation.","id":"HP:0025718","name":"Skeletal muscle hyperechogenicity","obsolete":false,"parents":["HP:0011805"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperechoic muscle"},{"scope":"EXACT","text":"Muscle ultrasound hyperechogenicity"}]} +{"alt_ids":[],"definition":"Gross findings of maternal vascular malperfusion include placental hypoplasia, placental infarction, and retroplacental hemorrhage. If information is available, it is preferable to annotate using the HPO terms that corresponding to the specific abnormalities.","id":"HP:0025719","name":"Maternal vascular malperfusion","obsolete":false,"parents":["HP:0100767"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Limited mobility of the eye to move from side to side (horizontally) within its socket.","id":"HP:0025720","name":"Limited horizontal extraocular movement","obsolete":false,"parents":["HP:0007941"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Limited mobility of the eye to move up and down (vertically) within its socket.","id":"HP:0025721","name":"Limited vertical extraocular movement","obsolete":false,"parents":["HP:0007941"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A necrotic lesion in the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors.","id":"HP:0025722","name":"Cerebral infarct","obsolete":false,"parents":["HP:0002060"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the skin of the fetus or newborn. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.","id":"HP:0025723","name":"Abnormal fetal skin morphology","obsolete":false,"parents":["HP:0011121","HP:0034058"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Vernix caseosa is a physiological, viscous biofilm that is produced by desquamated fetal skin and sebaceous glands covering the fetus at the third trimester in-utero. The substance's gross morphology in post-partum is described by the etymology, as vernix means varnish, and caseosa means cheesy-like matter. This finding refers to an abnormally thick and greasy vernix caseosa-like scale present at birth.","id":"HP:0025724","name":"Caseous vernix-like desquamation","obsolete":false,"parents":["HP:0025723"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Greasy, thick vernix caseosa-like scale"}]} +{"alt_ids":[],"definition":"A type of congenital pulmonary airway malformation that is characterized by multiple large cysts or a single dominant cyst.","id":"HP:0025725","name":"Type 1 congenital pulmonary airway malformation","obsolete":false,"parents":["HP:0010959"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of congenital pulmonary airway malformation that is characterized by multiple evenly spaced cysts (sponge-like appearance).","id":"HP:0025726","name":"Type 2 congenital pulmonary airway malformation","obsolete":false,"parents":["HP:0010959"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of congenital pulmonary airway malformation that is characterized by a bulky firm mass with an adenomatoid appearance.","id":"HP:0025727","name":"Type 3 congenital pulmonary airway malformation","obsolete":false,"parents":["HP:0010959"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pseudocysts that lack an epithelial lining, PVPCs are frequently observed in the caudothalamic groove or in the infero-lateral aspect of the frontal horns of the lateral ventricles, but may also be located elsewhere along the periventricular germinal matrix, as in the temporal or occipital horns.","id":"HP:0025728","name":"Periventricular pseudocyst","obsolete":false,"parents":["HP:0002518"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The term fetal vascular malperfusion (FVM) is used to describe placental pathology that is thought to result from an obstruction in fetal blood flow that could result from a number of conditions (eg, umbilical cord lesions, hypercoagulability, complications of fetal cardiac dysfunction, such as hypoxia, etc.).","id":"HP:0025729","name":"Fetal vascular malperfusion","obsolete":false,"parents":["HP:0100767"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Foramen ovale aneurysm (FOA) or atrial septal aneurysm is abnormal redundancy of the atrial septum primum, with bulging of the septum by at least half the width of the atrial chamber, or by at least 10 mm beyond the level of the atrial septum. The abnormal protrusion of the interatrial septum results in decreased left atrial volume. On color Doppler there is reduced left ventricular inflow.","id":"HP:0025730","name":"Foramen ovale aneurysm","obsolete":false,"parents":["HP:0010948"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fetal atrial septal dilatation"},{"scope":"EXACT","text":"Foetal atrial septal dilatation"},{"scope":"EXACT","text":"Redundant septum primum flap"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glycosylphosphatidylinositol anchored high-density lipoprotein binding protein 1.","id":"HP:0025731","name":"Anti-glycosylphosphatidylinositol anchored high-density lipoprotein binding protein 1 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-GPIHBP1 antibody positivity"}]} +{"alt_ids":[],"definition":"A substantial lag in the achievement of or divergence from typical milestones in social interaction and communication skills. Social-emotional competencies in young children include helping, sharing, comforting, and exhibiting empathy and compliance.","id":"HP:0025732","name":"Abnormal social development","obsolete":false,"parents":["HP:0012433"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of gonadal dysgenesis in which the gonadal tissue is underdeveloped and appears as fibrous, streak-like structures instead of fully formed ovaries or testes.","id":"HP:0025733","name":"Streak gonad","obsolete":false,"parents":["HP:0000133"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of 5-hydroxyhexanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0025734","name":"Elevated urinary 5-hydroxyhexanoic acid level","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural abnormality of the third (oculomotor) cranial nerve.","id":"HP:0025735","name":"Abnormal third cranial nerve morphology","obsolete":false,"parents":["HP:0001291"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A partial or complete breakage of a lone bone (e.g., the femur, tibia, fibula, humerus, radius, and ulna).","id":"HP:0025736","name":"Long-bone fracture","obsolete":false,"parents":["HP:0011314","HP:0020110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the subthalamic nucleus, a small lens-shaped structure located within the diencephalon near the junction with the midbrain. The subthalamic nucleus composes the majority of the subthalamus along with the subthalamic fasciculus, ansa lenticularis, and several other smaller structures.","id":"HP:0025737","name":"Abnormal subthalamic nucleus morphology","obsolete":false,"parents":["HP:0010662"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal neuroimaging finding consisting in an area of decreased density surrounded by a bright rim from concentration of the enhancing contrast dye.","id":"HP:0025738","name":"Ring-enhancing cerebral lesion","obsolete":false,"parents":["HP:0002060"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A swelling or enlargement localized to the optic nerve. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.","id":"HP:0025739","name":"Optic nerve mass","obsolete":false,"parents":["HP:0000587"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in the level of succinate in the brain identified by magnetic resonance spectroscopy (MRS).","id":"HP:0025740","name":"Elevated brain succinate level by MRS","obsolete":false,"parents":["HP:0012705"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated brain succinate level by magnetic resonance spectroscopy"}]} +{"alt_ids":[],"definition":"A lesion located in the brainstem that appears areas less dense on magnetic resonance imaging or lighter on computed tomography.","id":"HP:0025741","name":"Brainstem lucency","obsolete":false,"parents":["HP:0002363"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brainstem lucencies"}]} +{"alt_ids":[],"definition":"The amount of L-xylulose in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0025742","name":"Elevated urine L-xylulose level","obsolete":false,"parents":["HP:0031979"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of biliverdin in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0025743","name":"Elevated urine biliverdin level","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of dodecanedioic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0025744","name":"Elevated urine dodecanedioic acid level","obsolete":false,"parents":["HP:0001992"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0025745","name":"Abnormal urine amino acid level","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of glutamine in the urine, normalized for urine concentration, is below the lower limit of normal.","id":"HP:0025746","name":"Diminished urine glutamine level","obsolete":false,"parents":["HP:0025745"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the tongue.","id":"HP:0025747","name":"Tongue spasticity","obsolete":false,"parents":["HP:0000182"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Limited ability to move the tongue related to mechanical restrictions such as akyloglossia and not associated with tongue muscle weakness.","id":"HP:0025748","name":"Restricted tongue movement","obsolete":false,"parents":["HP:0000182"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A substantial difference in blood pressure (e.g., 20 mmHg) between the right and left limb (arm or leg or both).","id":"HP:0025749","name":"Asymmetric blood pressure between limbs","obsolete":false,"parents":["HP:0030972"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A substantial difference in blood pressure (e.g., 20 mmHg) between the right and left legs.","id":"HP:0025750","name":"Asymmetric blood pressure between legs","obsolete":false,"parents":["HP:0025749"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction in the height of the anterior portion of the sclera.","id":"HP:0025751","name":"Reduced anterior scleral thickness","obsolete":false,"parents":["HP:6000841"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction in the height of the posterior portion of the sclera.","id":"HP:0025752","name":"Reduced posterior scleral thickness","obsolete":false,"parents":["HP:6000841"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of 2-aminoisobutyric acid in the urine, when normalized for urine concentration, is above the upper limit of normal.","id":"HP:0025753","name":"Elevated urinary 2-aminoisobutyric acid","obsolete":false,"parents":["HP:0033098"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration or activity of beta hexosaminidase A in the blood circulation is below the lower limit of normal.","id":"HP:0025754","name":"Reduced beta-hexosaminidase A activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hexosaminidase A deficiency"}]} +{"alt_ids":[],"definition":"An abnormality affecting the outline (shape) or contour of the nail.","id":"HP:0025755","name":"Abnormal nail shape","obsolete":false,"parents":["HP:0001597"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the connection of the nail to the nailbed.","id":"HP:0025756","name":"Abnormal nail attachment","obsolete":false,"parents":["HP:0001597"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the surface of the nail.","id":"HP:0025757","name":"Abnormal nail surface","obsolete":false,"parents":["HP:0001597"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction. This term refers to a property (characteristic) of a mass.","id":"HP:0025758","name":"Characteristic of mass","obsolete":false,"parents":["HP:0012823"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This modifier is applied to a palpable mass or swelling in the body that can be moved or shifted under the skin when pressed or manipulated.","id":"HP:0025759","name":"Mobile lump","obsolete":false,"parents":["HP:0025758"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mobile mass"}]} +{"alt_ids":[],"definition":"This modifier is applied to a palpable mass or swelling in the body that cannot be moved or shifted under the skin when pressed or manipulated.","id":"HP:0025760","name":"Immobile lump","obsolete":false,"parents":["HP:0025758"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Immobile mass"}]} +{"alt_ids":[],"definition":"This modifier is applied to a palpable mass or swelling in the body that does not elicit pain upon palpation.","id":"HP:0025761","name":"Painless mass","obsolete":false,"parents":["HP:0025758"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against acetylcholine receptors of the ganglionic type.","id":"HP:0025762","name":"Anti-ganglionic acetylcholine receptor antibody positivity","obsolete":false,"parents":["HP:6001064"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The urine anion gap (UAG), calculated as [(Na+ + K+) - (Cl-)] has been used to roughly estimate whether urine ammonium is increased or decreased in the evaluation of hyperchloremic metabolic acidosis. The more ammonium in the urine, the lower the UAG is, which achieves negative values within a wide range (0 to -200 mEq/L) during hyperchloremic metabolic acidosis. In patients with distal renal tubular acidosis (RTA) of several etiologies, the UAG is positive, despite the prevailing metabolic acidosis, and this is a useful bedside diagnostic index of impaired ammonium excretion.","id":"HP:0025763","name":"Positive urine anion gap","obsolete":false,"parents":["HP:0032943"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of encephalocele that is characterized by herniation through the foramen cecum into the prenasal space and nasal cavity under the nasal bones and above the nasal septum.","id":"HP:0025764","name":"Nasoethmoidal encephalocele","obsolete":false,"parents":["HP:0007330"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This modifier is applied to a palpable mass or swelling in the body that has a rubber-like consistency, that is, it is soft and somewhat compressible.","id":"HP:0025765","name":"Rubber-like lump","obsolete":false,"parents":["HP:0025758"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rubber-like mass"}]} +{"alt_ids":[],"definition":"An anomaly in intensity, frequency, or duration of the verbal or behavioral expression of emotions, feelings, or thoughts.","id":"HP:0025766","name":"Abnormal affect","obsolete":false,"parents":["HP:0011446"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0025767","name":"obsolete Abnormal positive emotional state","obsolete":true,"parents":[],"replaced_by":["HP:0031844"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0025768","name":"obsolete Inappropriate elation","obsolete":true,"parents":[],"replaced_by":["HP:0031844"],"synonyms":[]} +{"alt_ids":["HP:5200235"],"definition":"An abnormality in the dynamic mode, rate, or form of thought processes as recognized from the flow of ideas expressed in speech. Successive thoughts and speech are easily diverted by external stimuli or internal superficial associations. Unable to maintain a constant train of thought and loose themselves in side issues, losing the thread and are unable to recover it. Superficial connections appear to drive the subject matter.","id":"HP:0025769","name":"Disordered formal thought process","obsolete":false,"parents":["HP:0025792"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disordered formal thought processes"},{"scope":"RELATED","text":"Disorganized speech or communication"},{"scope":"EXACT","text":"Formal thought disorder"}]} +{"alt_ids":[],"definition":null,"id":"HP:0025770","name":"2-3 finger osseus syndactyly","obsolete":false,"parents":["HP:0010492"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Recurrent thoughts that have a thematic thread that is typically familiar to the individual and are often willfully brought forth or occur in the context of an anxious preoccupation or worry about a relevant concern which may be out of proportion to the context. Ruminations may be of normal thinking rate and are characterized by a recurring theme that usually has a negative connotation.","id":"HP:0025771","name":"Ruminations","obsolete":false,"parents":["HP:0025785"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A persistent abnormality in patterns or meanings of expressed language. Words and phrases are disorganized in relationship to each other and often used incorrectly or inappropriately for the context and background culture of the person.","id":"HP:0025772","name":"Abnormal lexical patterns","obsolete":false,"parents":["HP:4000072"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Odd use of words that are out of context and inappropriate for the social situation.","id":"HP:0025773","name":"Abnormal semantics","obsolete":false,"parents":["HP:0025772"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Words or phrases and their expression that are used in a manner that is not consistent with the current and accepted meaning for the context and social circumstance. This does not apply to peer or culture driven novel uses of words that are accepted within the given social circles.","id":"HP:0025774","name":"Idiosyncratic use of words","obsolete":false,"parents":["HP:0025773"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ascribing novel meanings to words"}]} +{"alt_ids":[],"definition":"Patterns of expressed speech that have many words to describe a feature, but are themselves vague and approximations. The speech does not get to the point, but rather seems to go around and around and is inconcise and difficult to grasp the primary issue or purpose of the communicated words.","id":"HP:0025775","name":"Tangential speech","obsolete":false,"parents":["HP:0025773"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Circumstantiality"},{"scope":"EXACT","text":"Tangentiality"}]} +{"alt_ids":[],"definition":"The experience that thoughts are forced into the conscious awareness by external and foreign entities. The affected individual typically does not recognize the thoughts as coming from themselves and may develop secondary delusional ideas to explain the source of the process.","id":"HP:0025776","name":"Thought insertion","obsolete":false,"parents":["HP:5200419"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The experience that thoughts are being broadcasted from their head/conscious experience, some report that their thoughts are escaping, while others may believe that their thoughts are being picked up by a nearby receiver only to be further propagated. The person subsequently believes that everyone knows what they are thinking and feels that they have no privacy.","id":"HP:0025777","name":"Thought broadcasting","obsolete":false,"parents":["HP:5200419"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The personal experience that thoughts are echoing around them and that they are hearing their own thoughts as they are experiencing them internally.","id":"HP:0025778","name":"Thought echo","obsolete":false,"parents":["HP:5200419"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Echo de pensee"},{"scope":"EXACT","text":"Gedankenlautverden"}]} +{"alt_ids":["HP:5200269"],"definition":"Thought content disorders are characterized by abnormal beliefs and convictions (that are to be assessed given the culture and personal background of the affected individual).","id":"HP:0025779","name":"Disorder of thought content","obsolete":false,"parents":["HP:0025792"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal thought pattern"}]} +{"alt_ids":["HP:5200275"],"definition":"An abnormality of internal states of motivation or drive that compromise, or interfere with, the ability of the person to attend to basic personal, social, or vocational activities.","id":"HP:0025780","name":"Abnormal volitional state","obsolete":false,"parents":["HP:0025766"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormal energy"},{"scope":"RELATED","text":"Abnormal motivation"}]} +{"alt_ids":[],"definition":"Increased rate or speed of thoughts.","id":"HP:0025781","name":"Abnormally rapid thought process","obsolete":false,"parents":["HP:0025769"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormally rapid thought processes"},{"scope":"EXACT","text":"Rapid thought process"}]} +{"alt_ids":[],"definition":"Persistent abnormalities in sentence structure exceeding that of the context and background culture of the person.","id":"HP:0025782","name":"Abnormal syntax","obsolete":false,"parents":["HP:0025772"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The Human Phenotype Ontology provides terms to describe specific phenotypic abnormalities rather than disease diagnoses. Nevertheless, it is common for descriptions such as 'Autism' to be used to describe individuals affected with Mendelian forms of neurodevelopmental disease and many other conditions. If possible, we recommend annotation using specific terms in other branchs of the Atypical behavior subontology, but if this is not possible, then terms from this branch may be used.","id":"HP:0025783","name":"Diagnostic behavioral phenotype","obsolete":false,"parents":["HP:0000708"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Speech that consists of a series of recognizable words that are randomly strung together with no meaningful connection.","id":"HP:0025784","name":"Word salad","obsolete":false,"parents":["HP:0002463"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Random stream of words with no logic"}]} +{"alt_ids":[],"definition":"Preoccupations refers to being absorbed in any particular thought, activity, or concern that captures the attention of the individual. It may have a positive or negative connotation.","id":"HP:0025785","name":"Abnormal preoccupation","obsolete":false,"parents":["HP:0025779"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Intraosseous lipomas are rare benign lesions composed of mature fat that reside within the intramedullary canal.","id":"HP:0025786","name":"Intraosseous lipoma","obsolete":false,"parents":["HP:0012032"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bone lipoma"},{"scope":"EXACT","text":"Bony lipoma"},{"scope":"EXACT","text":"Intra-osseous lipoma"},{"scope":"EXACT","text":"Lipoma of bone"}]} +{"alt_ids":[],"definition":"Intense and typically recurring sexual arousal to atypical objects, fantasies, places, or individuals that frequently, but not always, lead to engagement of non-conventional sexual acts. This is a broad class of desires and behaviors that may include innocuous fetish behavior to illegal behaviors involving non-consenting individuals.","id":"HP:0025787","name":"Paraphilia","obsolete":false,"parents":["HP:0008768"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Paraphilias"}]} +{"alt_ids":[],"definition":"A characteristic of a lesion on radiography.","id":"HP:0025788","name":"Radiographic modifier","obsolete":false,"parents":["HP:0012823"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Radiographic quality"}]} +{"alt_ids":[],"definition":"Applies to a lesion that allows x-rays to penetrate through them and expose the receptor (radiolucency). Soft tissues appear black or dark on the processed radiograph and are called radiolucent.","id":"HP:0025789","name":"Radiolucent","obsolete":false,"parents":["HP:0025788"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Radiolucent appearance"},{"scope":"EXACT","text":"Radiolucent character"}]} +{"alt_ids":[],"definition":"Applies to a lesion that attenuates X-rays and appears radiodense (white) on a radiograph.","id":"HP:0025790","name":"Radiodense","obsolete":false,"parents":["HP:0025788"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Delusional belief of one's personal guilt for an event, real or imagined, and that one caused an outcome that is somehow catastrophic. It is generally impossible or fantastical that this could have happened in the manner believed by the person, that they were somehow responsible for an event despite not be anywhere near where it allegedly occurred.","id":"HP:0025791","name":"Delusion of guilt","obsolete":false,"parents":["HP:0000746"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal cognitive process can be defined as a deviation from the typical development, structural organization, or functional execution of mental operations that connect informational inputs to behavioral outputs, typically involve at least one of the following processes: perception, memory, learning, emotion, intentionality, self-representation, rationality, and decision-making.","id":"HP:0025792","name":"Abnormal cognitive process","obsolete":false,"parents":["HP:0011446"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal change in libido (sexual desire), typically accompanied by an altered frequency of sexual activity compared to from a person's previous norm.","id":"HP:0025793","name":"Abnormal change in sexual drive","obsolete":false,"parents":["HP:0008768","HP:0025780"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Expression of major histocompatibility complex class I molecules at the cell surface is below the lower limit of normal.","id":"HP:0025794","name":"Reduced MHC I cell surface expression","obsolete":false,"parents":["HP:6001190"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced cell surface expression of class I HLA antigens"}]} +{"alt_ids":[],"definition":"Any kind of test for an infectious agent in the urine positive (abnormal).","id":"HP:0025795","name":"Positive urine infectious agent test","obsolete":false,"parents":["HP:0430030"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Demonstration of an antigen specific to Legionella pneumophila in urine.","id":"HP:0025796","name":"Positive urine Legionella pneumophila antigen test","obsolete":false,"parents":["HP:0025795"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of sensorineural hearing impairment that affects one ear.","id":"HP:0025797","name":"Unilateral sensorineural hearing impairment","obsolete":false,"parents":["HP:0000407"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the wrist.","id":"HP:0025798","name":"Abnormal wrist morphology","obsolete":false,"parents":["HP:0003019"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any functional anomaly of the wrist.","id":"HP:0025799","name":"Abnormal wrist physiology","obsolete":false,"parents":["HP:0003019"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Subjective or objective feeling of clunking/clicking in the wrist with movement, wrist giving way or difficulty twisting objects.","id":"HP:0025800","name":"Wrist instability","obsolete":false,"parents":["HP:0025799"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Elevation of the nail from the nail bed.","id":"HP:0025801","name":"Nail elevation","obsolete":false,"parents":["HP:0009723"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inversion of the foot, resulting in the outer side of the sole only touching the ground; usually some degree of talipes equinus is associated with it, and often talipes cavus.","id":"HP:0025802","name":"Talipes varus","obsolete":false,"parents":["HP:0034673","HP:5210430"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pes adductus"},{"scope":"EXACT","text":"Pes varus"}]} +{"alt_ids":[],"definition":"Applies to pain that colocalizes with lesions in the skin or mucous membranes.","id":"HP:0025803","name":"Mucocutaneous lesion painful","obsolete":false,"parents":["HP:0025280"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Skin or mucosal lesions painful"}]} +{"alt_ids":[],"definition":"Applies to pain that is localizes to a swollen lymph node.","id":"HP:0025804","name":"Painful lymphadenopathy","obsolete":false,"parents":["HP:0025280"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lymph node pain"}]} +{"alt_ids":[],"definition":"Absence of detectable circulating T cells, commonly characterized as CD3+ lymphocytes, in the blood. These may include both TCR alpha/beta and gamma/delta T cells. Usually, less than 50 T cells per microlitre is considered to be an absence.","id":"HP:0025805","name":"Absent circulating T cells","obsolete":false,"parents":["HP:0011839"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0025806","name":"obsolete Abnormal total B cell count","obsolete":true,"parents":[],"replaced_by":["HP:0010975"],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal decrease of NK cell degranulation in response to stimulation, commonly measured through surface CD107a expression in response to cocultivation with a murine cell line. Other methods may be used by different laboratories.","id":"HP:0025807","name":"Decreased natural killer cell degranulation","obsolete":false,"parents":["HP:0012177"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal decrease of natural killer (NK) cell cytotoxicity. Assaying NK cytotoxicity involves coculturing NK calls with target cells and measuring the extent of cell death by methods such as luminescence-based (luciferase) assays, biophotonic assays, and flow cytometry-based Cr-release assays.","id":"HP:0025808","name":"Decreased natural killer cell-induced killing of target cells","obsolete":false,"parents":["HP:0012177"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Desquamation (scaling) involving nearly all of the surface of the skin.","id":"HP:0025809","name":"Generalized scaling","obsolete":false,"parents":["HP:0040189"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Diffuse desquamation"},{"scope":"EXACT","text":"Diffuse scaling"}]} +{"alt_ids":[],"definition":"A type of ichthyosis characterized by migratory, annular and polycyclic erythematous patches with double-edged scales at the periphery of the lesions.","id":"HP:0025810","name":"Ichthyosis linearis circumflexa","obsolete":false,"parents":["HP:0008064"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Double-edged scaling"},{"scope":"BROAD","text":"Serpiginous scaling"}]} +{"alt_ids":[],"definition":"A type of hair shaft dysmorphology in which the proximal part of the hair shaft overlaps the distal part, showing a bamboo-like appearance. This feature is pathognomic for Netherton syndrome, and can be ascertained by light microscopy.","id":"HP:0025811","name":"Trichorrhexis invaginata","obsolete":false,"parents":["HP:0003328"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bamboo hair"},{"scope":"EXACT","text":"Helical hair"}]} +{"alt_ids":[],"definition":"Fine white-greasy scales on scalp.","id":"HP:0025812","name":"Seborrheic scales on scalp","obsolete":false,"parents":["HP:0001051","HP:0040189"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Seborrhoeic scales on scalp"}]} +{"alt_ids":[],"definition":"Loss of the outer layer of the epidermis in the area of the eyebrow in large, scale-like flakes.","id":"HP:0025813","name":"Eyebrow scaling skin","obsolete":false,"parents":["HP:0040189"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Scales on eyebrows"}]} +{"alt_ids":[],"definition":"The stratum granulosum of the epidermis (granular layer) displays areas of discontinuity.","id":"HP:0025814","name":"Patchy stratum granulosum of epidermis","obsolete":false,"parents":["HP:0033806"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Patchy granular layer of the skin"}]} +{"alt_ids":[],"definition":"The stratum granulosum of the epidermis (granular layer) cannot be observed.","id":"HP:0025815","name":"Absent stratum granulosum of epidermis","obsolete":false,"parents":["HP:0033806"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent granular layer of skin"}]} +{"alt_ids":[],"definition":"The height (thickness) of the stratum granulosum of the epidermis (granular layer) is below the lower limit of normal but the stratum granulosum is visible.","id":"HP:0025816","name":"Hypogranulosis","obsolete":false,"parents":["HP:0033806"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Diminished granular layer"},{"scope":"EXACT","text":"Reduced granular layer"}]} +{"alt_ids":[],"definition":"A type of epidermal acanthosis characterized by regular elongated rete ridges.","id":"HP:0025817","name":"Psoriasiform acanthosis","obsolete":false,"parents":["HP:0025092"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Psoriasiform epidermal hyperplasia"},{"scope":"EXACT","text":"Psoriasiform epidermis"},{"scope":"EXACT","text":"Psoriasiform hyperplasia"}]} +{"alt_ids":[],"definition":"Infiltrating neutrophils in the epidermis, mostly into the stratum corneum. Characteristic for psoriasis.","id":"HP:0025818","name":"Intraepidermal microabscess formation","obsolete":false,"parents":["HP:0011124"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Splitting within the the upper lyer (stratum corneum) of the epidermis clinically characterized by shedding of dead cells from the outermost layer of skin.","id":"HP:0025819","name":"Palmoplantar peeling","obsolete":false,"parents":["HP:0100872"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Dyshidrosis lamellosa sicca"},{"scope":"RELATED","text":"Exfoliative keratolysis"},{"scope":"RELATED","text":"Focal palmoplantar peeling"},{"scope":"EXACT","text":"Palmoplantar desquamation"},{"scope":"EXACT","text":"Palmoplantar keratolysis"}]} +{"alt_ids":[],"definition":"The parents of the index patient are related as second cousins or closer.","id":"HP:0025820","name":"Offspring of consanguineous relationship","obsolete":false,"parents":["HP:0032316"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Consanguineous"}]} +{"alt_ids":[],"definition":"Redness of the skin of the lower eyelid, caused by hyperemia of the capillaries in the lower layers of the skin.","id":"HP:0025821","name":"Lower eyelid erythema","obsolete":false,"parents":["HP:0040323"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Redness of the skin of the upper eyelid, caused by hyperemia of the capillaries in the lower layers of the skin.","id":"HP:0025822","name":"Upper eyelid erythema","obsolete":false,"parents":["HP:0040323"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal result of a physical test of the shoulder that attempts to provoke pain in order to diagnosis a specific injury.","id":"HP:0025823","name":"Positive provocative functional shoulder test","obsolete":false,"parents":["HP:0033129"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal decrease of neutrophil phagocytic activity, commonly measured after stimulation with E. coli using flow cytometry.","id":"HP:0025824","name":"Decreased neutrophil phagocytosis","obsolete":false,"parents":["HP:0011990"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0033798"],"definition":"Abnormal decrease of neutrophil adhesion capacity, commonly measured as surface expression of CD18, CD11a or CD11b using flow cytometry.","id":"HP:0025825","name":"Decreased neutrophil adhesion","obsolete":false,"parents":["HP:0011990"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Impaired leukocyte adhesion"}]} +{"alt_ids":[],"definition":"Severe decrease in circulating neutrophils, usually characterized as fewer than 500 neutrophils per microlitre.","id":"HP:0025826","name":"Severely decreased neutrophil count","obsolete":false,"parents":["HP:0001875"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase or decrease of Th1 cells, commonly characterized through the intracellular synthesis of IFNg or surface expression of CXCR3, measured as proportion of total CD3+CD4+ T cells, usually after stimulation. The stimulation is usually unspecific and may include the use of anti-CD3 beads or antibodies or the use of phorbol-12-myristate-13-acetate (PMA) with ionomycin. Length of incubation and strength of stimulation may vary between laboratories.","id":"HP:0025827","name":"Abnormal Th1 T cell proportion","obsolete":false,"parents":["HP:0011840"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase of Th1 cells, commonly characterized through the intracellular synthesis of IFNg or surface expression of CXCR3, measured as proportion of total CD3+CD4+ T cells, usually after stimulation. The stimulation is usually unspecific and may include the use of anti-CD3 beads or antibodies or the use of phorbol-12-myristate-13-acetate (PMA) with ionomycin. Length of incubation and strength of stimulation may vary between laboratories.","id":"HP:0025828","name":"Increased Th1 T cell proportion","obsolete":false,"parents":["HP:0025827"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal decrease of Th1 cells, commonly characterized through the intracellular synthesis of IFNg or surface expression of CXCR3, measured as proportion of total CD3+CD4+ T cells, usually after stimulation. The stimulation is usually unspecific and may include the use of anti-CD3 beads or antibodies or the use of phorbol-12-myristate-13-acetate (PMA) with ionomycin. Length of incubation and strength of stimulation may vary between laboratories.","id":"HP:0025829","name":"Decreased Th1 T cell proportion","obsolete":false,"parents":["HP:0025827"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase or decrease of Th17 cells, commonly characterized through the intracellular synthesis of IL-17 or surface expression of CCR6, measured as proportion of total CD3+CD4+ T cells, usually after stimulation. The stimulation is usually unspecific and may include the use of anti-CD3 beads or antibodies, the use of phorbol-12-myristate-13-acetate (PMA) with ionomycin, or staphylococcal enterotoxin B (SEB). Length of incubation and strength of stimulation may vary between laboratories.","id":"HP:0025830","name":"Abnormal Th17 T cell proportion","obsolete":false,"parents":["HP:0011840"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase of Th17 cells, commonly characterized through the intracellular synthesis of IL-17 or surface expression of CCR6, measured as proportion of total CD3+CD4+ T cells, usually after stimulation. The stimulation is usually unspecific and may include the use of anti-CD3 beads or antibodies, the use of phorbol-12-myristate-13-acetate (PMA) with ionomycin, or staphylococcal enterotoxin B (SEB). Length of incubation and strength of stimulation may vary between laboratories.","id":"HP:0025831","name":"Increased Th17 T cell proportion","obsolete":false,"parents":["HP:0025830"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal decrease of Th17 cells, commonly characterized through the intracellular synthesis of IL-17 or surface expression of CCR6, measured as proportion of total CD3+CD4+ T cells, usually after stimulation. The stimulation is usually unspecific and may include the use of anti-CD3 beads or antibodies, the use of phorbol-12-myristate-13-acetate (PMA) with ionomycin, or staphylococcal enterotoxin B (SEB). Length of incubation and strength of stimulation may vary between laboratories.","id":"HP:0025832","name":"Decreased Th17 T cell proportion","obsolete":false,"parents":["HP:0025830"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal decrease of T cell proliferation in response to phorbol-12-myristate-13-acetate (PMA) and ionomycin stimulation. This is commonly measured through intracellular expression of Ki67, decreasing surface expression of carboxyfluorescein diacetate (CFSE), or 3H-thymidine incorporation. Length of incubation and strength of stimulation may vary between laboratories.","id":"HP:0025833","name":"Decreased PMA/ionomycin-induced T-cell proliferation","obsolete":false,"parents":["HP:0031381"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased proliferation in response to PMA/ionomycin"}]} +{"alt_ids":["HP:0003347"],"definition":"Def: A reduced rate of T lymphocyte transformation in response to in vitro stimulation to the mitogen phytohemagglutinin (PHA). Following PHA stimulation, T cells normally undergo morphological and biochemical alterations that reflect the transformation into lymphoblasts. There are several methods for quantifying this effect including measuring the uptake of the radioactive marker 3H-TdR, methyl thiazolyl tetrazolium colorimetric analysis (MTT assay), and morphological examination under the microscope or using a hematology analyzer. Various types of stimulation index compare the amount of proliferation between treated and control cells. An impaired test refers to a result in which the amount of stimulation is subnormal.","id":"HP:0025834","name":"Impaired phytohemagglutinin-induced T lymphocyte transformation","obsolete":false,"parents":["HP:0031381"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased PHA-induced T-cell proliferation"},{"scope":"EXACT","text":"Decreased proliferation in response to PHA"},{"scope":"EXACT","text":"Impaired T lymphocyte transformation with phytohemagglutinin"},{"scope":"EXACT","text":"Impaired lymphocyte transformation with phytohemagglutinin"}]} +{"alt_ids":[],"definition":"Abnormal decrease of CD8-positive T cell degranulation in response to stimulation, commonly measured through surface CD107a expression in response to cocultivation with a murine cell line. Other methods may be used by different laboratories.","id":"HP:0025835","name":"Decreased CD8+ T cell degranulation","obsolete":false,"parents":["HP:0011840"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase of cytotoxic CD3+CD8+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.","id":"HP:0025836","name":"Increased total CD8+ T cell proportion","obsolete":false,"parents":["HP:5210424"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated CD8+ T cell percentage"},{"scope":"EXACT","text":"Increased CD8 percentage"}]} +{"alt_ids":[],"definition":"Abnormal increase or decrease of the recent thymic emmigrant (RTE) CD4+ T cell subpopulation, commonly characterized as CD45RA+, CD45RO-, or CD27+, with the necessary expression of CD31+, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. These cells are sometimes also characterized as CD62L+ and CCR7+.","id":"HP:0025837","name":"Abnormal RTE CD4+ T cell proportion","obsolete":false,"parents":["HP:0031392"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal proportion of RTE CD4+ T cells"}]} +{"alt_ids":[],"definition":"Abnormal increase of the recent thymic emmigrant (RTE) CD4+ T cell subpopulation, commonly characterized as CD45RA+, CD45RO-, or CD27+, with the necessary expression of CD31+, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. These cells are sometimes also characterized as CD62L+ and CCR7+.","id":"HP:0025838","name":"Increased RTE CD4+ T cell proportion","obsolete":false,"parents":["HP:0025837"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased proportion of RTE CD4+ T cells"}]} +{"alt_ids":[],"definition":"Abnormal decrease of the recent thymic emmigrant (RTE) CD4+ T cell subpopulation, commonly characterized as CD45RA+, CD45RO-, or CD27+, with the necessary expression of CD31+, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. These cells are sometimes also characterized as CD62L+ and CCR7+.","id":"HP:0025839","name":"Decreased RTE CD4+ T cell proportion","obsolete":false,"parents":["HP:0025837"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased proportion of RTE CD4+ T cells"}]} +{"alt_ids":[],"definition":"Abnormal increase or decrease of the activated HLA-DR+ CD4+ T cell subpopulation, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group.","id":"HP:0025840","name":"Abnormal HLA-DR+ CD4+ T cell proportion","obsolete":false,"parents":["HP:0031392","HP:5200023"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal HLA DR+ CD4+ T cell proportion"},{"scope":"EXACT","text":"Abnormal proportion of HLA DR+ CD4+ T cells"}]} +{"alt_ids":[],"definition":"Abnormal reduction of the activated HLA-DR+ CD4+ T cell subpopulation, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group.","id":"HP:0025841","name":"Decreased HLA-DR+ CD4+ T cell proportion","obsolete":false,"parents":["HP:0025840","HP:5200034"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased HLA DR+ CD4+ T cell proportion"}]} +{"alt_ids":[],"definition":"Abnormal increase or decrease of the activated HLA-DR+ CD8+ T cell subpopulation, measured as percentage of total CD8+ T cells in the blood, compared to a reference range for a given sex and age-group.","id":"HP:0025842","name":"Abnormal HLA-DR+ CD8+ T cell proportion","obsolete":false,"parents":["HP:0020115","HP:5200023"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal proportion of HLA DR+ CD8+ T cells"}]} +{"alt_ids":[],"definition":"Abnormal increase of the activated HLA-DR+ CD8+ T cell subpopulation, measured as percentage of total CD8+ T cells in the blood, compared to a reference range for a given sex and age-group.","id":"HP:0025843","name":"Increased HLA-DR+ CD8+ T cell proportion","obsolete":false,"parents":["HP:0025842","HP:5200033"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal decrease of the activated HLA-DR+ CD8+ T cell subpopulation, measured as percentage of total CD8+ T cells in the blood, compared to a reference range for a given sex and age-group.","id":"HP:0025844","name":"Decreased HLA-DR+ CD8+ T cell proportion","obsolete":false,"parents":["HP:0025842","HP:5200034"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal distribution of the TCR repertoire expressed on T cells. This usually means oligoclonality (fewer TCR clonotypes compared to a healthy age-matched control) or monoclonality (one dominant TCR clone detected). This may be measured through different methods depending on the lab, but commonly include TCR spectratyping or TCRB CDR3 sequencing.","id":"HP:0025845","name":"Abnormal TCR repertoire","obsolete":false,"parents":["HP:0002843"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal decrease of intracellular expression of perforin within NK cells, commonly characterized as CD3-CD19- and CD16+ or CD56+ lymphocytes, ex vivo.","id":"HP:0025846","name":"Decreased natural killer cell perforin expression","obsolete":false,"parents":["HP:0012177"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased NK cell perforin expression"}]} +{"alt_ids":[],"definition":"Hypersensitivity in form of an adverse immune reaction against fish.","id":"HP:0025847","name":"Fish allergy","obsolete":false,"parents":["HP:0410333"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hypersensitivity in form of an adverse immune reaction against shellfish (an aquatic shelled mollusc such as an oyster or mussel, or a crustacean such as a crab or shrimp).","id":"HP:0025848","name":"Shellfish allergy","obsolete":false,"parents":["HP:0410333"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Refers to findings sich as paresthesias or weakness that are distributed according to the anatomical location of a periperipheral nerve.","id":"HP:0025849","name":"Localized along nerve distribution","obsolete":false,"parents":["HP:0012838"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0025850","name":"Abnormal synovial cavity morphology","obsolete":false,"parents":["HP:0001367"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal joint cavity morphology"}]} +{"alt_ids":[],"definition":"Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz.","id":"HP:0030000","name":"EMG: repetitive nerve stimulation abnormality","obsolete":false,"parents":["HP:0003457"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A condition in which the eyelids do not close to cover the eye completely.","id":"HP:0030001","name":"Lagophthalmos","obsolete":false,"parents":["HP:0000492"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eyelids stay open"},{"scope":"EXACT","text":"Inability to close the eyelids"}]} +{"alt_ids":[],"definition":"The inability to close the eyelids during sleep.","id":"HP:0030002","name":"Nocturnal lagophthalmos","obsolete":false,"parents":["HP:0030001"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eyelids stay open at night"},{"scope":"EXACT","text":"Inability to close the eyelids at night"}]} +{"alt_ids":[],"definition":"A type of lagophthalmos that occurs in association with facial nerve palsy.","id":"HP:0030003","name":"Paralytic lagophthalmos","obsolete":false,"parents":["HP:0030001"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of lagophthalmos that occurs following trauma or surgery.","id":"HP:0030004","name":"Cicatricial lagophthalmos","obsolete":false,"parents":["HP:0030001"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eyelids stay open due to scarring"},{"scope":"EXACT","text":"Inability to close the eyelids due to scarring"}]} +{"alt_ids":[],"definition":"An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes.","id":"HP:0030005","name":"Capillary leak","obsolete":false,"parents":["HP:0025018"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased capillary permeability"},{"scope":"RELATED","text":"Systemic capillary leak syndrome"}]} +{"alt_ids":[],"definition":"Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers.","id":"HP:0030006","name":"Single fiber EMG abnormality","obsolete":false,"parents":["HP:0003457"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Single fibre EMG abnormality"}]} +{"alt_ids":[],"definition":"These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform.","id":"HP:0030007","name":"EMG: positive sharp waves","obsolete":false,"parents":["HP:0003482"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Congenital absence of the uterine cervix.","id":"HP:0030008","name":"Cervical agenesis","obsolete":false,"parents":["HP:0430114"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent cervix"},{"scope":"EXACT","text":"Aplasia of the cervix"},{"scope":"EXACT","text":"Cervical aplasia"}]} +{"alt_ids":[],"definition":"A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent","id":"HP:0030009","name":"Cervical insufficiency","obsolete":false,"parents":["HP:0012888"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Incompetent cervix"}]} +{"alt_ids":[],"definition":"Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina.","id":"HP:0030010","name":"Hydrometrocolpos","obsolete":false,"parents":["HP:0000142"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina.","id":"HP:0030011","name":"Imperforate hymen","obsolete":false,"parents":["HP:0000142"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030012","name":"Abnormal female reproductive system physiology","obsolete":false,"parents":["HP:0000080"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormal female genital system physiology"},{"scope":"EXACT","text":"Abnormal female reproductive system physiology"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030013","name":"obsolete Endometriosis","obsolete":true,"parents":[],"replaced_by":["HP:0030127"],"synonyms":[]} +{"alt_ids":[],"definition":"A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity","id":"HP:0030014","name":"Female sexual dysfunction","obsolete":false,"parents":["HP:0030012"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal.","id":"HP:0030015","name":"Female anorgasmia","obsolete":false,"parents":["HP:0030014","HP:0046502"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Female orgasmic disorder"}]} +{"alt_ids":[],"definition":"Recurrent or persistent genital pain associated with sexual intercourse.","id":"HP:0030016","name":"Dyspareunia","obsolete":false,"parents":["HP:0000080"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Recurrent or persistent involuntary spasms of the musculature of the outer third of the vagina that interferes with vaginal penetration, and which causes personal distress.","id":"HP:0030017","name":"Vaginismus","obsolete":false,"parents":["HP:0030014"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Myalgia of pelvic floor"},{"scope":"EXACT","text":"Pelvic floor myalgia"}]} +{"alt_ids":[],"definition":"Diminished sexual desire in female.","id":"HP:0030018","name":"Decreased female libido","obsolete":false,"parents":["HP:0030014","HP:0046504"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased female sex drive"}]} +{"alt_ids":[],"definition":"Elevated sexual desire in female","id":"HP:0030019","name":"Increased female libido","obsolete":false,"parents":["HP:0030014","HP:0046503"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased female sex drive"}]} +{"alt_ids":[],"definition":"Small protrusion within the pinna.","id":"HP:0030021","name":"Auricular tag","obsolete":false,"parents":["HP:0000377"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cleft between the helix and the lobe.","id":"HP:0030022","name":"Question mark ear","obsolete":false,"parents":["HP:0000377"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Constricted ear"},{"scope":"EXACT","text":"Cosman ear"},{"scope":"EXACT","text":"Question mark ear"},{"scope":"EXACT","text":"Question mark ears"}]} +{"alt_ids":[],"definition":"Small cartilaginous prominence on the posterior concha.","id":"HP:0030023","name":"Quelprud nodule","obsolete":false,"parents":["HP:0000377"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Variably shaped, cartilage-containing tissue anterior to the external auditory meatus.","id":"HP:0030024","name":"Pretragal ectopia","obsolete":false,"parents":["HP:0000383"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Extra cartilage in front of the ear"},{"scope":"RELATED","text":"Pretragal Duplication"}]} +{"alt_ids":[],"definition":"Small indentation in the lower part of the ascending helix, concha, or in the crus helix.","id":"HP:0030025","name":"Auricular pit","obsolete":false,"parents":["HP:0000377"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual.","id":"HP:0030026","name":"Squared superior portion of helix","obsolete":false,"parents":["HP:0011039"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A morphological anomaly of the nasal cartilage.","id":"HP:0030027","name":"Abnormal nasal cartilage morphology","obsolete":false,"parents":["HP:0010938"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of cartilage of nose"},{"scope":"EXACT","text":"Abnormality of the nasal cartilage"},{"scope":"EXACT","text":"Anomaly of cartilage of nose"},{"scope":"EXACT","text":"Anomaly of nasal cartilage"},{"scope":"NARROW","text":"Deformity of cartilage of nose"},{"scope":"NARROW","text":"Deformity of nasal cartilage"},{"scope":"NARROW","text":"Malformation of cartilage of nose"},{"scope":"NARROW","text":"Malformation of nasal cartilage"}]} +{"alt_ids":[],"definition":"Lack of a palpable nasal cartilage.","id":"HP:0030028","name":"Absent nasal cartilage","obsolete":false,"parents":["HP:0030027"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent cartilage of nose"},{"scope":"EXACT","text":"Absent nasal cartilage"},{"scope":"EXACT","text":"Agenesis of cartilage of nose"},{"scope":"EXACT","text":"Agenesis of nasal cartilage"},{"scope":"EXACT","text":"Failure of development of cartilage of nose"},{"scope":"EXACT","text":"Failure of development of nasal cartilage"},{"scope":"EXACT","text":"Missing cartilage of nose"},{"scope":"EXACT","text":"Missing nasal cartilage"}]} +{"alt_ids":[],"definition":"Divergence of digits along the A/P axis (in the plane of the palm).","id":"HP:0030029","name":"Splayed fingers","obsolete":false,"parents":["HP:0001167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Splayed fingers"},{"scope":"EXACT","text":"Spreading of the fingers"}]} +{"alt_ids":[],"definition":"The absence of all phalanges of a digit and the associated metacarpal /metatarsal.","id":"HP:0030030","name":"Absent ray","obsolete":false,"parents":["HP:0002813"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual.","id":"HP:0030031","name":"Small toe","obsolete":false,"parents":["HP:0001991"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small toe"}]} +{"alt_ids":[],"definition":"An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals.","id":"HP:0030032","name":"Partial absence of foot","obsolete":false,"parents":["HP:0006494"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial absence of foot"}]} +{"alt_ids":[],"definition":"Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual.","id":"HP:0030033","name":"Small finger","obsolete":false,"parents":["HP:0006265"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small finger"}]} +{"alt_ids":[],"definition":"Presence of abnormal additional layers of the basement membrane of the glomerulus.","id":"HP:0030034","name":"Glomerular basement membrane lamellation","obsolete":false,"parents":["HP:0033282"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lamellated/basket-woven thickened glomerular basement membranes"},{"scope":"EXACT","text":"Lamellation of the glomerular basement membrane"}]} +{"alt_ids":[],"definition":"Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones).","id":"HP:0030035","name":"Struvite nephrolithiasis","obsolete":false,"parents":["HP:0000787"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Struvite kidney stones"}]} +{"alt_ids":[],"definition":"Inability of the kidneys to produce either concentrated or dilute urine.","id":"HP:0030036","name":"Isothenuria","obsolete":false,"parents":["HP:0012211"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Incomplete duplication of the ureter.","id":"HP:0030037","name":"Bifid ureter","obsolete":false,"parents":["HP:0000073"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus.","id":"HP:0030038","name":"Enchondroma","obsolete":false,"parents":["HP:0010622"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another.","id":"HP:0030039","name":"Fused thoracic vertebrae","obsolete":false,"parents":["HP:0002948"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another.","id":"HP:0030040","name":"Fused lumbar vertebrae","obsolete":false,"parents":["HP:0002948"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra.","id":"HP:0030041","name":"Schmorl's node","obsolete":false,"parents":["HP:0003468"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Schmorl's nodes"}]} +{"alt_ids":[],"definition":"Failure to complete ossification (maturation and calcification) of the pubic bone.","id":"HP:0030042","name":"Incomplete ossification of pubis","obsolete":false,"parents":["HP:0009105"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Incomplete maturation of the pubic bone"}]} +{"alt_ids":[],"definition":"A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.","id":"HP:0030043","name":"Hip subluxation","obsolete":false,"parents":["HP:0001384"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial hip dislocation"},{"scope":"EXACT","text":"Subluxation involving the hip joint"}]} +{"alt_ids":[],"definition":"A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.","id":"HP:0030044","name":"Flexion contracture of digit","obsolete":false,"parents":["HP:0001371"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Elongated curved (S-shaped) fibulae.","id":"HP:0030045","name":"Serpentine fibula","obsolete":false,"parents":["HP:0002991"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"S-shaped calf bone"}]} +{"alt_ids":[],"definition":"A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue.","id":"HP:0030046","name":"Hypoglycosylation of alpha-dystroglycan","obsolete":false,"parents":["HP:0030112"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A morphological anomaly of the lateral ventricle.","id":"HP:0030047","name":"Abnormal lateral ventricle morphology","obsolete":false,"parents":["HP:0002118"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of lateral ventricle"}]} +{"alt_ids":[],"definition":"Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles.","id":"HP:0030048","name":"Colpocephaly","obsolete":false,"parents":["HP:0030047"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A collection of pus, immune cells, and other material in the brain.","id":"HP:0030049","name":"Brain abscess","obsolete":false,"parents":["HP:0011450","HP:0025615"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brain abscess"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030050","name":"obsolete Narcolepsy","obsolete":true,"parents":[],"replaced_by":["HP:0002524"],"synonyms":[]} +{"alt_ids":["HP:0002394","HP:0040083"],"definition":"An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.","id":"HP:0030051","name":"Tip-toe gait","obsolete":false,"parents":["HP:0001288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tiptoe gait"},{"scope":"EXACT","text":"Toe walking"},{"scope":"EXACT","text":"Walking on tiptoes"}]} +{"alt_ids":[],"definition":"The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.","id":"HP:0030052","name":"Inguinal freckling","obsolete":false,"parents":["HP:0001480"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Freckles in groin region"}]} +{"alt_ids":[],"definition":"An induration (hardening) of the skin","id":"HP:0030053","name":"Stiff skin","obsolete":false,"parents":["HP:0011121"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Indurated skin"},{"scope":"EXACT","text":"Skin induration"},{"scope":"EXACT","text":"Stiff skin"}]} +{"alt_ids":[],"definition":"Presence of excess fibrous connective tissue surrounding hair follicules.","id":"HP:0030054","name":"Perifollicular fibrosis","obsolete":false,"parents":["HP:0031285"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity.","id":"HP:0030055","name":"Hyperconvex toenail","obsolete":false,"parents":["HP:0001795"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hair that is disorderly, stands out from the scalp, and cannot be combed flat.","id":"HP:0030056","name":"Uncombable hair","obsolete":false,"parents":["HP:0010719"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uncombable hair"}]} +{"alt_ids":[],"definition":"The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.","id":"HP:0030057","name":"Autoimmune antibody positivity","obsolete":false,"parents":["HP:0002960"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains).","id":"HP:0030058","name":"Sickled erythrocytes","obsolete":false,"parents":["HP:0004447"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal reduction in mitochondrial DNA content of cells.","id":"HP:0030059","name":"Mitochondrial depletion","obsolete":false,"parents":["HP:0003287"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system).","id":"HP:0030060","name":"Nervous tissue neoplasm","obsolete":false,"parents":["HP:0011792"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells.","id":"HP:0030061","name":"Neuroectodermal neoplasm","obsolete":false,"parents":["HP:0030060"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumors that are located within the sellar and para sellar region of the central nervous system.","id":"HP:0030062","name":"Craniopharyngioma","obsolete":false,"parents":["HP:0030061"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium.","id":"HP:0030063","name":"Neuroepithelial neoplasm","obsolete":false,"parents":["HP:0030061"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign brain tumor composed of neural elements which most often arise from the septum pellucidum and the walls of the lateral ventricles.","id":"HP:0030064","name":"Neurocytoma","obsolete":false,"parents":["HP:0030063"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation.","id":"HP:0030065","name":"Primitive neuroectodermal tumor","obsolete":false,"parents":["HP:0030063"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Primitive neuroectodermal tumour"}]} +{"alt_ids":[],"definition":"A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system.","id":"HP:0030066","name":"Ependymoblastoma","obsolete":false,"parents":["HP:0030070"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone.","id":"HP:0030067","name":"Peripheral primitive neuroectodermal neoplasm","obsolete":false,"parents":["HP:0030065"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate.","id":"HP:0030068","name":"Olfactory esthesioneuroblastoma","obsolete":false,"parents":["HP:0003006"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS.","id":"HP:0030069","name":"Primary central nervous system lymphoma","obsolete":false,"parents":["HP:0012539"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Primary CNS lymphoma"}]} +{"alt_ids":[],"definition":"A primitive neuroectodermal neoplasm that occurs in the central nervous system.","id":"HP:0030070","name":"Central primitive neuroectodermal tumor","obsolete":false,"parents":["HP:0030065"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Central primitive neuroectodermal tumour"}]} +{"alt_ids":[],"definition":"A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal.","id":"HP:0030071","name":"Medulloepithelioma","obsolete":false,"parents":["HP:0030070"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tumor that originates in the paranasal sinus.","id":"HP:0030072","name":"Paranasal sinus neoplasm","obsolete":false,"parents":["HP:0000245","HP:0012720"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neoplasm of the paranasal sinuses"},{"scope":"NARROW","text":"Tumor of the paranasal sinuses"},{"scope":"NARROW","text":"Tumour of the paranasal sinuses"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030073","name":"obsolete Pharyngeal neoplasm","obsolete":true,"parents":[],"replaced_by":["HP:0100638"],"synonyms":[]} +{"alt_ids":[],"definition":"A usually benign neoplasm originating in the chemoreceptor tissue of the carotid body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract.","id":"HP:0030074","name":"Chemodectoma","obsolete":false,"parents":["HP:0002668"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chemodectomas"}]} +{"alt_ids":[],"definition":"Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer.","id":"HP:0030075","name":"Ductal carcinoma in situ","obsolete":false,"parents":["HP:0100013"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030076","name":"Lobular carcinoma in situ","obsolete":false,"parents":["HP:0100013"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tumor originating in a bronchus.","id":"HP:0030077","name":"Bronchial neoplasm","obsolete":false,"parents":["HP:0025426","HP:0100552"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030078","name":"Lung adenocarcinoma","obsolete":false,"parents":["HP:0030358"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tumor of the uterine cervix.","id":"HP:0030079","name":"Cervix cancer","obsolete":false,"parents":["HP:0032241"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass.","id":"HP:0030080","name":"Burkitt lymphoma","obsolete":false,"parents":["HP:0012539"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter.","id":"HP:0030081","name":"Punctate periventricular T2 hyperintense foci","obsolete":false,"parents":["HP:0030891"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.","id":"HP:0030082","name":"Abnormal drinking behavior","obsolete":false,"parents":["HP:0040202"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal drinking behavior"},{"scope":"EXACT","text":"Abnormal drinking behaviour"}]} +{"alt_ids":[],"definition":"Hypersalivation, also known as salt craving, refers to an excessive desire to consume salt (sodium chloride) or salty foods.","id":"HP:0030083","name":"Salt craving","obsolete":false,"parents":["HP:0100738"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Salt craving"}]} +{"alt_ids":[],"definition":"An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).","id":"HP:0030084","name":"Clinodactyly","obsolete":false,"parents":["HP:0011297"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Curvature of digit"},{"scope":"EXACT","text":"Permanent curving of the finger"}]} +{"alt_ids":[],"definition":"Abnormal concentration of lactate in the cerebrospinal fluid.","id":"HP:0030085","name":"Abnormal CSF lactate concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal CSF lactate level"}]} +{"alt_ids":[],"definition":"Decreased concentration of lactate in the cerebrospinal fluid.","id":"HP:0030086","name":"Reduced CSF lactate","obsolete":false,"parents":["HP:0030085"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypolactatorachia"}]} +{"alt_ids":[],"definition":"An anomalous concentration of testosterone in the blood.","id":"HP:0030087","name":"Abnormal circulating testosterone concentration","obsolete":false,"parents":["HP:0030347"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal serum testosterone level"},{"scope":"BROAD","text":"Abnormal testosterone level"}]} +{"alt_ids":[],"definition":"An elevated circulating testosterone level in the blood.","id":"HP:0030088","name":"Increased serum testosterone level","obsolete":false,"parents":["HP:0030087","HP:0030348"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High serum testosterone level"},{"scope":"EXACT","text":"High serum testosterone levels"},{"scope":"EXACT","text":"Increased serum testosterone levels"},{"scope":"BROAD","text":"Increased testosterone"}]} +{"alt_ids":[],"definition":"An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue.","id":"HP:0030089","name":"Abnormal muscle fiber protein expression","obsolete":false,"parents":["HP:0004303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal muscle fibre protein expression"}]} +{"alt_ids":[],"definition":"An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve.","id":"HP:0030090","name":"Abnormal muscle fiber merosin expression","obsolete":false,"parents":["HP:0030089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal muscle fibre merosin expression"}]} +{"alt_ids":[],"definition":"Lack of merosin protein in the muscle biopsy.","id":"HP:0030091","name":"Absent muscle fiber merosin","obsolete":false,"parents":["HP:0030090"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent merosin staining in muscle biopsy"},{"scope":"EXACT","text":"Absent muscle fiber laminin alpha 2"},{"scope":"EXACT","text":"Absent muscle fibre laminin alpha 2"},{"scope":"EXACT","text":"Absent muscle fibre merosin"}]} +{"alt_ids":[],"definition":"A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue.","id":"HP:0030092","name":"Reduced muscle fiber merosin","obsolete":false,"parents":["HP:0030090"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced muscle fibre merosin"}]} +{"alt_ids":[],"definition":"A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1.","id":"HP:0030093","name":"Abnormal muscle fiber laminin beta 1","obsolete":false,"parents":["HP:0030089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal muscle fibre laminin beta 1"}]} +{"alt_ids":[],"definition":"A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1.","id":"HP:0030094","name":"Reduced muscle fiber laminin beta 1","obsolete":false,"parents":["HP:0030093"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced muscle fibre laminin beta 1"}]} +{"alt_ids":[],"definition":"A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle.","id":"HP:0030095","name":"Reduced muscle collagen VI","obsolete":false,"parents":["HP:0030089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced collagen 6 in muscle"},{"scope":"EXACT","text":"Reduced collagen VI immunolabeling in muscle biopsy"}]} +{"alt_ids":[],"definition":"A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina.","id":"HP:0030096","name":"Abnormal muscle fiber dystrophin expression","obsolete":false,"parents":["HP:0030089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal muscle fibre dystrophin expression"}]} +{"alt_ids":[],"definition":"Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy.","id":"HP:0030097","name":"Absent muscle dystrophin expression","obsolete":false,"parents":["HP:0030096"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A decreased amount of dystrophin in muscle fiber tissue.","id":"HP:0030098","name":"Reduced muscle dystrophin expression","obsolete":false,"parents":["HP:0030096"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced dystrophin staining in muscle"}]} +{"alt_ids":[],"definition":"Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.","id":"HP:0030099","name":"Reduced muscle fiber alpha dystroglycan","obsolete":false,"parents":["HP:0030112"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced muscle fibre alpha dystroglycan"}]} +{"alt_ids":[],"definition":"Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.","id":"HP:0030100","name":"Abnormal muscle fiber alpha sarcoglycan","obsolete":false,"parents":["HP:0030089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal muscle fibre alpha sarcoglycan"}]} +{"alt_ids":[],"definition":"Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy.","id":"HP:0030101","name":"Absent muscle fiber alpha sarcoglycan","obsolete":false,"parents":["HP:0030100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent muscle fibre alpha sarcoglycan"}]} +{"alt_ids":[],"definition":"A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy.","id":"HP:0030102","name":"Reduced muscle fiber alpha sarcoglycan","obsolete":false,"parents":["HP:0030100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced muscle fibre alpha sarcoglycan"}]} +{"alt_ids":[],"definition":"Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.","id":"HP:0030103","name":"Abnormal muscle fiber beta sarcoglycan","obsolete":false,"parents":["HP:0030089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal muscle fibre beta sarcoglycan"}]} +{"alt_ids":[],"definition":"Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.","id":"HP:0030104","name":"Abnormal muscle fiber gamma sarcoglycan","obsolete":false,"parents":["HP:0030089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal muscle fibre gamma sarcoglycan"}]} +{"alt_ids":[],"definition":"Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.","id":"HP:0030105","name":"Abnormal muscle fiber delta sarcoglycan","obsolete":false,"parents":["HP:0030089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal muscle fibre delta sarcoglycan"}]} +{"alt_ids":[],"definition":"Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy.","id":"HP:0030106","name":"Absent muscle fiber beta sarcoglycan","obsolete":false,"parents":["HP:0030103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent muscle fibre beta sarcoglycan"}]} +{"alt_ids":[],"definition":"Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy.","id":"HP:0030107","name":"Reduced muscle fiber beta sarcoglycan","obsolete":false,"parents":["HP:0030103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced muscle fibre beta sarcoglycan"}]} +{"alt_ids":[],"definition":"Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy.","id":"HP:0030108","name":"Reduced muscle fiber gamma sarcoglycan","obsolete":false,"parents":["HP:0030104"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced muscle fibre gamma sarcoglycan"}]} +{"alt_ids":[],"definition":"Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy.","id":"HP:0030109","name":"Absent muscle fiber gamma sarcoglycan","obsolete":false,"parents":["HP:0030104"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent muscle fibre gamma sarcoglycan"}]} +{"alt_ids":[],"definition":"Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy.","id":"HP:0030110","name":"Absent muscle fiber delta sarcoglycan","obsolete":false,"parents":["HP:0030105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent muscle fibre delta sarcoglycan"}]} +{"alt_ids":[],"definition":"Abnormally reduced amount of delta sarcoglycan in muscle.","id":"HP:0030111","name":"Reduced muscle fiber delta sarcoglycan","obsolete":false,"parents":["HP:0030105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced muscle fibre delta sarcoglycan"}]} +{"alt_ids":[],"definition":"A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.","id":"HP:0030112","name":"Abnormal muscle fiber alpha dystroglycan","obsolete":false,"parents":["HP:0030089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal muscle fibre alpha dystroglycan"}]} +{"alt_ids":[],"definition":"A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-kDa transmembrane protein involved in calcium-mediated sarcolemma resealing.","id":"HP:0030113","name":"Abnormal muscle fiber dysferlin","obsolete":false,"parents":["HP:0030089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal muscle fibre dysferlin"}]} +{"alt_ids":[],"definition":"Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy.","id":"HP:0030114","name":"Absent muscle fiber dysferlin","obsolete":false,"parents":["HP:0030113"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent muscle fibre dysferlin"}]} +{"alt_ids":[],"definition":"Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy.","id":"HP:0030115","name":"Reduced muscle fiber dysferlin","obsolete":false,"parents":["HP:0030113"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced muscle fibre dysferlin"}]} +{"alt_ids":[],"definition":"A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue.","id":"HP:0030116","name":"Abnormal muscle fiber emerin","obsolete":false,"parents":["HP:0030089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal muscle fibre emerin"}]} +{"alt_ids":[],"definition":"Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy.","id":"HP:0030117","name":"Absent muscle fiber emerin","obsolete":false,"parents":["HP:0030116"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent muscle fibre emerin"}]} +{"alt_ids":[],"definition":"Immunohistochemistry reveals reduced emerin protein in the muscle biopsy.","id":"HP:0030118","name":"Reduced muscle fiber emerin","obsolete":false,"parents":["HP:0030116"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced muscle fibre emerin"}]} +{"alt_ids":[],"definition":"A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates.","id":"HP:0030119","name":"Abnormal muscle fiber calpain-3","obsolete":false,"parents":["HP:0030089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal muscle fibre calpain-3"}]} +{"alt_ids":[],"definition":"Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue.","id":"HP:0030120","name":"Absent muscle fiber calpain-3","obsolete":false,"parents":["HP:0030119"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent muscle fibre calpain-3"}]} +{"alt_ids":[],"definition":"Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue.","id":"HP:0030121","name":"Reduced muscle fiber calpain-3","obsolete":false,"parents":["HP:0030119"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced muscle fibre calpain-3"}]} +{"alt_ids":[],"definition":"Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2).","id":"HP:0030122","name":"Reduced muscle fiber perlecan","obsolete":false,"parents":["HP:0030089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced muscle fibre perlecan"}]} +{"alt_ids":[],"definition":"A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation.","id":"HP:0030123","name":"Abnormal muscle fiber lamin A/C","obsolete":false,"parents":["HP:0030089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal muscle fibre lamin A/C"}]} +{"alt_ids":[],"definition":"A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue.","id":"HP:0030124","name":"Reduced muscle fiber lamin A/C","obsolete":false,"parents":["HP:0030123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced muscle fibre lamin A/C"}]} +{"alt_ids":[],"definition":"A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both.","id":"HP:0030125","name":"Sacralization of the fifth lumbar vertebra","obsolete":false,"parents":["HP:0002948"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"L5 sacralization"}]} +{"alt_ids":[],"definition":"An anomaly of the inner mucous membrane of the uterus.","id":"HP:0030126","name":"Abnormal endometrium morphology","obsolete":false,"parents":["HP:0031105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the endometrium"}]} +{"alt_ids":["HP:0030013"],"definition":"The growth of endometrial tissue outside the uterus.","id":"HP:0030127","name":"Endometriosis","obsolete":false,"parents":["HP:0030012","HP:0030126"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma.","id":"HP:0030129","name":"Impaired ristocetin cofactor assay activity","obsolete":false,"parents":["HP:0012146"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced ability of von Willebrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers.","id":"HP:0030130","name":"Impaired von Willebrand factor collagen binding activity","obsolete":false,"parents":["HP:0012146"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deviation from the normal von Willebrand factor multimer pattern.","id":"HP:0030131","name":"Abnormal von Willebrand factor multimer distribution","obsolete":false,"parents":["HP:0012146"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of large von Willebrand Factor multimers on gel electrophoresis.","id":"HP:0030132","name":"Absence of large von Willebrand factor multimers","obsolete":false,"parents":["HP:0030131"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of abnormal ultra-large von Willebrand factor multimers.","id":"HP:0030133","name":"Abnormal presence of ultra-large von Willebrand factor multimers","obsolete":false,"parents":["HP:0030131"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Complete absence of all von Willebrand factor multimers.","id":"HP:0030134","name":"Total absence von Willebrand factor multimers","obsolete":false,"parents":["HP:0030131"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lack of intermediate von Willebrand Factor multimers on gel electrophoresis.","id":"HP:0030135","name":"Absence of intermediate von Willebrand factor multimers","obsolete":false,"parents":["HP:0030131"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma.","id":"HP:0030136","name":"Enhanced ristocetin cofactor assay activity","obsolete":false,"parents":["HP:0012146"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bleeding that persists for a longer than usual time following circumcision.","id":"HP:0030137","name":"Prolonged bleeding following circumcision","obsolete":false,"parents":["HP:0011890"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prolonged bleeding following circumcision"}]} +{"alt_ids":[],"definition":"An abnormally increased degree of bleeding following a superficial injury to the surface of the skin.","id":"HP:0030138","name":"Excessive bleeding from superficial cuts","obsolete":false,"parents":["HP:0001892"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excessive bleeding from superficial cuts"}]} +{"alt_ids":[],"definition":"An abnormal high amount of bleeding following the procedure of taking a blood sample.","id":"HP:0030139","name":"Excessive bleeding after a venipuncture","obsolete":false,"parents":["HP:0001892"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0040184"],"definition":"Recurrent or excessive bleeding from the mouth.","id":"HP:0030140","name":"Oral cavity bleeding","obsolete":false,"parents":["HP:0001892","HP:0031815"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bleeding from mouth"},{"scope":"EXACT","text":"Oral bleeding"},{"scope":"EXACT","text":"Oral cavity bleeding"},{"scope":"EXACT","text":"Oral cavity haemorrhage"},{"scope":"EXACT","text":"Oral cavity hemorrhage"},{"scope":"EXACT","text":"Oral haemorrhage"},{"scope":"EXACT","text":"Oral hemorrhage"}]} +{"alt_ids":[],"definition":"An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair.","id":"HP:0030141","name":"Abnormality of the posterior hairline","obsolete":false,"parents":["HP:0009553"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of hairline at back of head"}]} +{"alt_ids":[],"definition":"An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis.","id":"HP:0030142","name":"Abnormal bowel sounds","obsolete":false,"parents":["HP:0011458"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal bowel sounds"}]} +{"alt_ids":[],"definition":"Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines.","id":"HP:0030143","name":"Hyperactive bowel sounds","obsolete":false,"parents":["HP:0030142"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Borborygmi"},{"scope":"EXACT","text":"Increased bowel sounds"}]} +{"alt_ids":[],"definition":"An decreased amount of bowel sounds.","id":"HP:0030144","name":"Hypoactive bowel sounds","obsolete":false,"parents":["HP:0030142"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased bowel sounds"}]} +{"alt_ids":[],"definition":"Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope.","id":"HP:0030145","name":"Lack of bowel sounds","obsolete":false,"parents":["HP:0030142"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lack of bowel sounds"}]} +{"alt_ids":[],"definition":"A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells.","id":"HP:0030146","name":"Abnormal liver parenchyma morphology","obsolete":false,"parents":["HP:0410042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Tremor of the trunk in an anterior-posterior plane at 3-4 Hz.","id":"HP:0030147","name":"Truncal titubation","obsolete":false,"parents":["HP:0030187"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.","id":"HP:0030148","name":"Heart murmur","obsolete":false,"parents":["HP:0031657"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cardiac murmur"},{"scope":"EXACT","text":"Cardiac murmurs"},{"scope":"EXACT","text":"Heart murmur"},{"scope":"EXACT","text":"Heart murmurs"}]} +{"alt_ids":[],"definition":"Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume.","id":"HP:0030149","name":"Cardiogenic shock","obsolete":false,"parents":["HP:0031273"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cardiovascular shock"}]} +{"alt_ids":[],"definition":"An abnormally increased number of plasma cells in tissues, exudates, or blood","id":"HP:0030150","name":"Plasmacytosis","obsolete":false,"parents":["HP:0004332"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both.","id":"HP:0030151","name":"Cholangitis","obsolete":false,"parents":["HP:0012440","HP:0012649"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bile duct inflammation"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030152","name":"obsolete Biliary tract neoplasm","obsolete":true,"parents":[],"replaced_by":["HP:0100574"],"synonyms":[]} +{"alt_ids":[],"definition":"Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension.","id":"HP:0030153","name":"Cholangiocarcinoma","obsolete":false,"parents":["HP:0100574"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bile duct cancer"}]} +{"alt_ids":[],"definition":"Rupture of the wall of the gallbladder.","id":"HP:0030154","name":"Gallbladder perforation","obsolete":false,"parents":["HP:0012437"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gall bladder perforation"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum.","id":"HP:0030155","name":"Scrotal pain","obsolete":false,"parents":["HP:0000045","HP:0012531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Scrotal pain"}]} +{"alt_ids":[],"definition":"The presence of free monoclonal immunoglobulin light chains in the urine.","id":"HP:0030156","name":"Bence Jones Proteinuria","obsolete":false,"parents":["HP:0020129"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.","id":"HP:0030157","name":"Flank pain","obsolete":false,"parents":["HP:0012531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flank pain"},{"scope":"BROAD","text":"Kidney pain"}]} +{"alt_ids":[],"definition":"Cervical ectropion occurs when eversion of the endocervix exposes columnar epithelium to the vaginal milieu","id":"HP:0030158","name":"Cervical ectropion","obsolete":false,"parents":["HP:0012888"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cervical ectopy"},{"scope":"RELATED","text":"Cervical erosion"}]} +{"alt_ids":[],"definition":"Abnormal growth of tissue projecting from a mucous membrane of the endocervix.","id":"HP:0030159","name":"Cervical polyp","obsolete":false,"parents":["HP:0012888"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cervical tumor"},{"scope":"EXACT","text":"Cervical tumour"}]} +{"alt_ids":[],"definition":"Inflammation of the uterine cervix.","id":"HP:0030160","name":"Cervicitis","obsolete":false,"parents":["HP:0012888"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uterine cervicitis"},{"scope":"EXACT","text":"Uterine cervix inflammation"}]} +{"alt_ids":[],"definition":"A sensation of itching in the vagina.","id":"HP:0030161","name":"Vaginal pruritus","obsolete":false,"parents":["HP:0000142","HP:0000989"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally large size of glomeruli.","id":"HP:0030162","name":"Glomerulomegaly","obsolete":false,"parents":["HP:0000095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Glomeruli enlarged"}]} +{"alt_ids":[],"definition":"Abnormality of vascular function.","id":"HP:0030163","name":"Abnormal vascular physiology","obsolete":false,"parents":["HP:0002597","HP:0011025"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pain in the jaw or ear induced by chewing or otherwise moving the jaw.","id":"HP:0030164","name":"Jaw claudication","obsolete":false,"parents":["HP:0025323"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Jaw pain while chewing"}]} +{"alt_ids":[],"definition":"The presence of an increased number of twists and turns of the temporal artery.","id":"HP:0030165","name":"Temporal artery tortuosity","obsolete":false,"parents":["HP:0005116","HP:0430104"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Occurrence of excessive sweating during sleep.","id":"HP:0030166","name":"Night sweats","obsolete":false,"parents":["HP:0025142"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Night sweats"},{"scope":"EXACT","text":"Nocturnal hyperhidrosis"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria.","id":"HP:0030167","name":"Antimitochondrial antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Serum antimitochrondrial antibodies"}]} +{"alt_ids":[],"definition":"Increase in diameter of the veins located underneath the skin of the abdomen.","id":"HP:0030168","name":"Dilated superficial abdominal veins","obsolete":false,"parents":["HP:0001015"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dilatation of the superficial abdominal veins"}]} +{"alt_ids":[],"definition":"Extreme dilation of the submucusoal veins in the stomach.","id":"HP:0030169","name":"Gastric varix","obsolete":false,"parents":["HP:0002577"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Gastric varices"}]} +{"alt_ids":[],"definition":"Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue.","id":"HP:0030170","name":"Cystic artery pseudoaneurysm","obsolete":false,"parents":["HP:0012437"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A collection of clotted blood surrounding the kidney.","id":"HP:0030171","name":"Perirenal hematoma","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Congenital absence of the myelin sheath on a nerve.","id":"HP:0030172","name":"Peripheral amyelination","obsolete":false,"parents":["HP:0003130"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased amount of peripheral myelination.","id":"HP:0030173","name":"Peripheral hypermyelination","obsolete":false,"parents":["HP:0003130"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased peripheral myelination"}]} +{"alt_ids":[],"definition":"Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion.","id":"HP:0030174","name":"Increased peripheral myelin thickness","obsolete":false,"parents":["HP:0030173"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage).","id":"HP:0030175","name":"Myelin tomacula","obsolete":false,"parents":["HP:0030173"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tomacula"}]} +{"alt_ids":[],"definition":"Loss of myelin from peripheral nerves in a pattern that differs between right and left.","id":"HP:0030176","name":"Asymmetric peripheral demyelination","obsolete":false,"parents":["HP:0011096"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles.","id":"HP:0030177","name":"Abnormality of peripheral nervous system electrophysiology","obsolete":false,"parents":["HP:0001311","HP:0032120"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal nerve conduction study"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030178","name":"Abnormality of central nervous system electrophysiology","obsolete":false,"parents":["HP:0001311"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of CNS electrophysiology"}]} +{"alt_ids":[],"definition":"An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve.","id":"HP:0030179","name":"Abnormal peripheral action potential amplitude","obsolete":false,"parents":["HP:0003134"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe).","id":"HP:0030180","name":"Oppenheim reflex","obsolete":false,"parents":["HP:0007256"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Oppenheim sign"}]} +{"alt_ids":[],"definition":"Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe).","id":"HP:0030181","name":"Gordon reflex","obsolete":false,"parents":["HP:0007256"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gordon sign"}]} +{"alt_ids":[],"definition":"Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength.","id":"HP:0030182","name":"Tetraplegia/tetraparesis","obsolete":false,"parents":["HP:0010549"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR).","id":"HP:0030183","name":"Impaired visually enhanced vestibulo-ocular reflex","obsolete":false,"parents":["HP:0007670"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"VVOR impairment"},{"scope":"EXACT","text":"Visually enhanced vestibulo-ocular reflex impairment"}]} +{"alt_ids":[],"definition":"An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist).","id":"HP:0030185","name":"Isometric tremor","obsolete":false,"parents":["HP:0002345"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Dystonia tremor"}]} +{"alt_ids":[],"definition":"Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor.","id":"HP:0030186","name":"Kinetic tremor","obsolete":false,"parents":["HP:0002345"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Essential tremor"}]} +{"alt_ids":[],"definition":"Nodding movement of the head or body.","id":"HP:0030187","name":"Titubation","obsolete":false,"parents":["HP:0002345"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Tremor classified by the affected body part.","id":"HP:0030188","name":"Tremor by anatomical site","obsolete":false,"parents":["HP:0001337"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tremor of a body part"}]} +{"alt_ids":[],"definition":"Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior.","id":"HP:0030190","name":"Oral motor hypotonia","obsolete":false,"parents":["HP:0001252"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system.","id":"HP:0030191","name":"Abnormal peripheral nervous system synaptic transmission","obsolete":false,"parents":["HP:0012535"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal PNS synaptic transmission"}]} +{"alt_ids":[],"definition":"A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.","id":"HP:0030192","name":"Fatigable weakness of bulbar muscles","obsolete":false,"parents":["HP:0003473"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.","id":"HP:0030193","name":"Fatigable weakness of chewing muscles","obsolete":false,"parents":["HP:0030192"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.","id":"HP:0030194","name":"Fatigable weakness of speech muscles","obsolete":false,"parents":["HP:0030192"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.","id":"HP:0030195","name":"Fatigable weakness of swallowing muscles","obsolete":false,"parents":["HP:0030192"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.","id":"HP:0030196","name":"Fatigable weakness of respiratory muscles","obsolete":false,"parents":["HP:0003473"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.","id":"HP:0030197","name":"Fatigable weakness of skeletal muscles","obsolete":false,"parents":["HP:0003473"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.","id":"HP:0030198","name":"Fatigable weakness of distal limb muscles","obsolete":false,"parents":["HP:0030197"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.","id":"HP:0030199","name":"Fatigable weakness of neck muscles","obsolete":false,"parents":["HP:0030197"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.","id":"HP:0030200","name":"Fatiguable weakness of proximal limb muscles","obsolete":false,"parents":["HP:0030197"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis.","id":"HP:0030201","name":"Response to drugs acting on neuromuscular transmission","obsolete":false,"parents":["HP:0030191"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.","id":"HP:0030202","name":"Favorable response of weakness to acetylcholine esterase inhibitors","obsolete":false,"parents":["HP:0030201"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Favourable response of weakness to acetylcholine esterase inhibitors"}]} +{"alt_ids":[],"definition":"Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.","id":"HP:0030203","name":"Unfavorable response of muscle weakness to acetylcholine esterase inhibitors","obsolete":false,"parents":["HP:0030201"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unfavourable response of muscle weakness to acetylcholine esterase inhibitors"}]} +{"alt_ids":[],"definition":"The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG).","id":"HP:0030205","name":"Increased jitter at single fiber EMG","obsolete":false,"parents":["HP:0030006"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased jitter at single fibre EMG"},{"scope":"EXACT","text":"Increased jitter at single fibre electromyography"}]} +{"alt_ids":[],"definition":"A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation.","id":"HP:0030206","name":"EMG: incremental response of compound muscle action potential to repetitive nerve stimulation","obsolete":false,"parents":["HP:0100285"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing.","id":"HP:0030207","name":"Paradoxical respiration","obsolete":false,"parents":["HP:0002793"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Paradoxical breathing"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neuromuscular junction acetylcholine receptors.","id":"HP:0030208","name":"Anti-neuromuscular Junction acetylcholine receptor antibody positivity","obsolete":false,"parents":["HP:6001064"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acetylcholine receptor antibody positivity"},{"scope":"EXACT","text":"Anti-AChR antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels.","id":"HP:0030209","name":"Calcium channel antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ca channel antibody positivity"},{"scope":"EXACT","text":"Ca2+ channel antibody positivity"}]} +{"alt_ids":["HP:5000045"],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab).","id":"HP:0030210","name":"Anti-muscle-specific tyrosine kinase antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-MUSK antibodies"},{"scope":"EXACT","text":"Muscle specific kinase antibody positivity"}]} +{"alt_ids":[],"definition":"Reduced velocity and acceleration in the pupillary light response.","id":"HP:0030211","name":"Slow pupillary light response","obsolete":false,"parents":["HP:0007695"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sluggish pupillary reaction"},{"scope":"EXACT","text":"Sluggish pupillary reactions to light"}]} +{"alt_ids":[],"definition":"Excessive or pathological tendency to save and collect possessions.","id":"HP:0030212","name":"Collectionism","obsolete":false,"parents":["HP:0000722"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Collecting"},{"scope":"EXACT","text":"Compulsive hoarding"},{"scope":"EXACT","text":"Hoarding"}]} +{"alt_ids":[],"definition":"A diminished ability to experience, express, or connect with emotions across both positive and negative valences. This state is often characterized by a pervasive sense of emotional disconnection or detachment, where the individual may report feeling \"numb\" or lacking emotional responses that were previously present. The reduction can range from mild dampening of emotional responses to a near-total absence of emotional engagement. It is important to consider the individual's baseline emotional competence, as changes in emotional capacity may be more indicative of this phenomenon in those with a previously broad emotional range.","id":"HP:0030213","name":"Emotional dearth","obsolete":false,"parents":["HP:0100851"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Blunted affect"},{"scope":"BROAD","text":"Diminished emotional response"},{"scope":"RELATED","text":"Emotional Detachment"},{"scope":"EXACT","text":"Emotional blunting"},{"scope":"EXACT","text":"Emotional numbness"},{"scope":"BROAD","text":"Emotional poverty"},{"scope":"EXACT","text":"Emotionally barren"},{"scope":"BROAD","text":"Flat Affect"},{"scope":"BROAD","text":"Restricted Affect"},{"scope":"RELATED","text":"Restricted affect"},{"scope":"BROAD","text":"Unable to feel emotion"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030214","name":"obsolete Hypersexuality","obsolete":true,"parents":[],"replaced_by":["HP:5200321"],"synonyms":[]} +{"alt_ids":[],"definition":"Uncontrolled episodes of crying occur without any apparent motivating stimuli.","id":"HP:0030215","name":"Inappropriate crying","obsolete":false,"parents":["HP:5200261"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cry frequently for no reason"},{"scope":"EXACT","text":"Cry frequently without apparent cause"},{"scope":"EXACT","text":"Cry frequently without cause"},{"scope":"EXACT","text":"Cry frequently without reason"},{"scope":"EXACT","text":"Frequently cries for no reason"},{"scope":"EXACT","text":"Frequently cries without apparent cause"},{"scope":"EXACT","text":"Frequently cries without cause"},{"scope":"EXACT","text":"Frequently cries without reason"},{"scope":"EXACT","text":"Inappropriate crying"}]} +{"alt_ids":[],"definition":"Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example).","id":"HP:0030216","name":"Inertia","obsolete":false,"parents":["HP:0000745"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Difficulty in performing the correct execution of limbs movements in absence of motor impairment.","id":"HP:0030217","name":"Limb apraxia","obsolete":false,"parents":["HP:0002186"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects.","id":"HP:0030218","name":"Punding","obsolete":false,"parents":["HP:0000733"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A progressive loss of the ability to remember the meaning of words, faces and objects.","id":"HP:0030219","name":"Semantic dementia","obsolete":false,"parents":["HP:0002145"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Trouble remembering words"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030220","name":"obsolete Socially inappropriate behavior","obsolete":true,"parents":[],"replaced_by":["HP:0000719"],"synonyms":[]} +{"alt_ids":[],"definition":"Excessive desire to eat sweet foods.","id":"HP:0030221","name":"Sweet craving","obsolete":false,"parents":["HP:0100738"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sweet craving"}]} +{"alt_ids":[],"definition":"The condition is known as visual agnosia, which refers to the inability to recognize objects that are visually presented, even though the individual may have normal visual field, acuity, color vision, brightness discrimination, language, and memory.","id":"HP:0030222","name":"Visual agnosia","obsolete":false,"parents":["HP:0010524"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The repetitive production of the same response to different commands.","id":"HP:0030223","name":"Perseverative thought","obsolete":false,"parents":["HP:0025769"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Perseveration"},{"scope":"EXACT","text":"Perseverative behavior"},{"scope":"EXACT","text":"Perseverative behaviour"}]} +{"alt_ids":[],"definition":"A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-kDa protein.","id":"HP:0030224","name":"Abnormal muscle fiber desmin","obsolete":false,"parents":["HP:0030089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal muscle fibre desmin"}]} +{"alt_ids":[],"definition":"Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy.","id":"HP:0030225","name":"Accumulation of muscle fiber desmin","obsolete":false,"parents":["HP:0030224"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Accumulation of muscle fibre desmin"},{"scope":"EXACT","text":"Muscle fiber desmin-reactive inclusion bodies"},{"scope":"EXACT","text":"Muscle fibre desmin-reactive inclusion bodies"}]} +{"alt_ids":[],"definition":"A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kDa cytoskeletal protein.","id":"HP:0030226","name":"Abnormal muscle fiber myotilin","obsolete":false,"parents":["HP:0030089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal muscle fibre myotilin"}]} +{"alt_ids":[],"definition":"Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy.","id":"HP:0030227","name":"Accumulation of muscle fiber myotilin","obsolete":false,"parents":["HP:0030226"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Accumulation of muscle fibre myotilin"}]} +{"alt_ids":[],"definition":"A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein is an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family.","id":"HP:0030228","name":"Abnormal muscle fiber valosin-containing protein","obsolete":false,"parents":["HP:0030089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal muscle fibre valosin-containing protein"}]} +{"alt_ids":[],"definition":"Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy.","id":"HP:0030229","name":"Accumulation of muscle fiber valosin-containing protein","obsolete":false,"parents":["HP:0030228"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Accumulation of muscle fibre valosin-containing protein"}]} +{"alt_ids":[],"definition":"The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric.","id":"HP:0030230","name":"Central core regions in muscle fibers","obsolete":false,"parents":["HP:0004303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Central core regions in muscle fibres"}]} +{"alt_ids":[],"definition":"An increased amount of glycogen in muscle tissue found specifically in lysosomes.","id":"HP:0030231","name":"Glycogen accumulation in muscle fiber lysosomes","obsolete":false,"parents":["HP:0009051"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Glycogen accumulation in muscle fibre lysosomes"}]} +{"alt_ids":[],"definition":"Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers.","id":"HP:0030232","name":"Increased sarcoplasmic glycogen","obsolete":false,"parents":["HP:0009051"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures.","id":"HP:0030233","name":"Bethlem sign","obsolete":false,"parents":["HP:0009473"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bethlem phenomenon"}]} +{"alt_ids":[],"definition":"An increased CPK level between 4X and 50X above the upper normal level.","id":"HP:0030234","name":"Highly elevated creatine kinase","obsolete":false,"parents":["HP:0003236"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Highly elevated CPK"},{"scope":"EXACT","text":"Highly elevated creatine phosphokinase"},{"scope":"EXACT","text":"Highly elevated serum CK"},{"scope":"EXACT","text":"Highly elevated serum CPK"},{"scope":"EXACT","text":"Highly elevated serum phosph-CK"}]} +{"alt_ids":[],"definition":"An increased creatine kinase level more than 50X above the upper normal level.","id":"HP:0030235","name":"Extremely elevated creatine kinase","obsolete":false,"parents":["HP:0003236"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extremely elevated CPK"},{"scope":"EXACT","text":"Extremely elevated creatine phosphokinase"},{"scope":"EXACT","text":"Extremely elevated phospho-CK serum level"},{"scope":"EXACT","text":"Extremely elevated serum CK level"},{"scope":"EXACT","text":"Extremely high CPK level"}]} +{"alt_ids":[],"definition":"Abnormalities of the overall muscle bulk based on clinical observation.","id":"HP:0030236","name":"Abnormality of muscle size","obsolete":false,"parents":["HP:0011805"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of muscle size"}]} +{"alt_ids":[],"definition":"Reduced strength of the musculature of the hand.","id":"HP:0030237","name":"Hand muscle weakness","obsolete":false,"parents":["HP:0001421"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hand muscle weakness"}]} +{"alt_ids":[],"definition":"Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis.","id":"HP:0030239","name":"Hypoplasia of the upper arm musculature","obsolete":false,"parents":["HP:0009016"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Underdeveloped upper arm muscles"}]} +{"alt_ids":["HP:0009039","HP:0009044"],"definition":"Underdevelopment of the deltoid muscle.","id":"HP:0030241","name":"Hypoplasia of deltoid muscle","obsolete":false,"parents":["HP:0008952"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deltoid muscle hypoplasia"}]} +{"alt_ids":[],"definition":"Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins.","id":"HP:0030242","name":"Portal vein thrombosis","obsolete":false,"parents":["HP:0030247","HP:0031941"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blood clot in portal vein"}]} +{"alt_ids":[],"definition":"An obstruction in the veins of the liver caused by a blood clot (thrombosis).","id":"HP:0030243","name":"Hepatic vein thrombosis","obsolete":false,"parents":["HP:0030247"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blood clot in liver vein"},{"scope":"EXACT","text":"Hepatic venous thrombosis"}]} +{"alt_ids":[],"definition":"The occurrence of an elevated body temperature of the mother during pregnancy.","id":"HP:0030244","name":"Maternal fever in pregnancy","obsolete":false,"parents":["HP:0002686"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Maternal fever during pregnancy"}]} +{"alt_ids":[],"definition":"The occurrence of maternal fever during labor.","id":"HP:0030245","name":"Intrapartum fever","obsolete":false,"parents":["HP:0030244"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Maternal fever during labor"},{"scope":"EXACT","text":"Maternal fever during labour"}]} +{"alt_ids":[],"definition":"The occurrence of fever in a mother during the first trimester of pregnancy.","id":"HP:0030246","name":"Maternal first trimester fever","obsolete":false,"parents":["HP:0030244"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity).","id":"HP:0030247","name":"Splanchnic vein thrombosis","obsolete":false,"parents":["HP:0004936"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blood clot in splanchnic vein"}]} +{"alt_ids":[],"definition":"A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine).","id":"HP:0030248","name":"Mesenteric venous thrombosis","obsolete":false,"parents":["HP:0030247"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blood clot in mesentertic vein"}]} +{"alt_ids":[],"definition":"A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx.","id":"HP:0030249","name":"Enanthema","obsolete":false,"parents":["HP:0011830"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung.","id":"HP:0030250","name":"Pulmonary granulomatosis","obsolete":false,"parents":["HP:0006530"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030251","name":"obsolete Absence of memory B cells","obsolete":true,"parents":[],"replaced_by":["HP:0010976"],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of detectable circulating B cells, commonly characterized as CD19+ or CD20+ lymphocytes, in the blood. Usually, less than 20 cells per microlitre is considered to be an absence.","id":"HP:0030252","name":"Absent circulating B cells","obsolete":false,"parents":["HP:0010975"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of mature B cells"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030253","name":"obsolete Defective T cell proliferation","obsolete":true,"parents":[],"replaced_by":["HP:0031379"],"synonyms":[]} +{"alt_ids":[],"definition":"Small areas of bleeding (hemorrhage) under the fingernail or toenail.","id":"HP:0030254","name":"Nail bed hemorrhage","obsolete":false,"parents":["HP:0001597"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nail bed haemorrhage"}]} +{"alt_ids":[],"definition":"The presence of multiple polyps in the large intestine.","id":"HP:0030255","name":"Large intestinal polyposis","obsolete":false,"parents":["HP:0200008"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of multiple polyps in the small intestine.","id":"HP:0030256","name":"Small intestinal polyposis","obsolete":false,"parents":["HP:0200008"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"One or more brown punctate macules on the skin of the genitalia.","id":"HP:0030257","name":"Freckled genitalia","obsolete":false,"parents":["HP:0012293"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Freckled genitalia"},{"scope":"EXACT","text":"Genitalia, ephelides"}]} +{"alt_ids":[],"definition":"Localized or generalized increased genital pigmentation.","id":"HP:0030258","name":"Hyperpigmented genitalia","obsolete":false,"parents":["HP:0012293"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased genital pigmentation"},{"scope":"RELATED","text":"Penile melanosis"}]} +{"alt_ids":[],"definition":"Localized or generalized decreased genital pigmentation.","id":"HP:0030259","name":"Hypopigmented genitalia","obsolete":false,"parents":["HP:0012293"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased genital pigmentation"}]} +{"alt_ids":[],"definition":"Length of penis more than 2 SD below the mean for age accompanied by hypospadias.","id":"HP:0030260","name":"Microphallus","obsolete":false,"parents":["HP:0008736"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0040316"],"definition":"Lack of recognizable penile structures.","id":"HP:0030261","name":"Absent penis","obsolete":false,"parents":["HP:0000036"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent penis"},{"scope":"EXACT","text":"Aphallia"},{"scope":"EXACT","text":"Aplasia of the penis"},{"scope":"EXACT","text":"Penis aplasia"}]} +{"alt_ids":[],"definition":"Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age.","id":"HP:0030262","name":"Narrow penis","obsolete":false,"parents":["HP:0000036"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrow penis"}]} +{"alt_ids":[],"definition":"Rotated position of the glans, with or without the penile shaft, of 30 degrees or more.","id":"HP:0030263","name":"Torsion of the penis","obsolete":false,"parents":["HP:0000036"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Ventral skinfold extending from penis to scrotum.","id":"HP:0030264","name":"Webbed penis","obsolete":false,"parents":["HP:0000036"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Webbed penis"}]} +{"alt_ids":[],"definition":"Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age.","id":"HP:0030265","name":"Wide penis","obsolete":false,"parents":["HP:0000036"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide penis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030266","name":"obsolete Abnormality of the sacroiliac notch","obsolete":true,"parents":[],"replaced_by":["HP:0010456"],"synonyms":[]} +{"alt_ids":[],"definition":"Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna.","id":"HP:0030267","name":"Calcification of the interosseus membrane of the forearm","obsolete":false,"parents":["HP:0002973"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Interosseous membrane calcification of forearm"}]} +{"alt_ids":[],"definition":"Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing.","id":"HP:0030268","name":"Hyperplastic callus formation","obsolete":false,"parents":["HP:0011842"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of insulin-like growth factor 1 (IGF1) in the blood circulation is above the upper limit of normal.","id":"HP:0030269","name":"Increased circulating insulin-like growth factor 1 concentration","obsolete":false,"parents":["HP:0030352"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated serum IGF1"},{"scope":"EXACT","text":"Increased serum IGF1"},{"scope":"EXACT","text":"Increased serum insulin-like growth factor 1"}]} +{"alt_ids":[],"definition":"Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.","id":"HP:0030270","name":"Elevated red cell adenosine deaminase activity","obsolete":false,"parents":["HP:4000209"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation.","id":"HP:0030271","name":"Reduced erythrocyte 2,3-diphosphoglycerate concentration","obsolete":false,"parents":["HP:0034737"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme.","id":"HP:0030272","name":"Abnormal erythrocyte enzyme concentration or activity","obsolete":false,"parents":["HP:0001877","HP:0034684"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal erythrocyte enzyme level"}]} +{"alt_ids":[],"definition":"Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.","id":"HP:0030273","name":"Reduced red cell adenosine deaminase level","obsolete":false,"parents":["HP:4000209"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Additional scrotum, or part of a scrotum in an abnormal location.","id":"HP:0030274","name":"Accessory scrotum","obsolete":false,"parents":["HP:0000045"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extra scrotum"}]} +{"alt_ids":[],"definition":"Scrotum in a position other than the usual position inferior to the base of the penis.","id":"HP:0030275","name":"Ectopic scrotum","obsolete":false,"parents":["HP:0000045"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal scrotum position"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030276","name":"obsolete Small scrotum","obsolete":true,"parents":[],"replaced_by":["HP:0000046"],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal morphology of a vertebral pedical.","id":"HP:0030277","name":"Abnormal vertebral pedicle morphology","obsolete":false,"parents":["HP:0008438"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdeveloped vertebral pedicle.","id":"HP:0030278","name":"Hypoplastic vertebral pedicle","obsolete":false,"parents":["HP:0030277"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdeveloped pedicle of the fifth lumbar vertebra.","id":"HP:0030279","name":"Hypoplastic L5 vertebral pedicle","obsolete":false,"parents":["HP:0030278"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Radiolucent focal defect of a rib shaft.","id":"HP:0030280","name":"Rib gap","obsolete":false,"parents":["HP:0000772"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rib gap"}]} +{"alt_ids":[],"definition":"Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development.","id":"HP:0030281","name":"Cervical C3/C4 vertebral fusion","obsolete":false,"parents":["HP:0002949"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest.","id":"HP:0030282","name":"Posterior rib gap","obsolete":false,"parents":["HP:0030280"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dorsal rib defect"}]} +{"alt_ids":[],"definition":"Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain.","id":"HP:0030283","name":"Partial absence of the septum pellucidum","obsolete":false,"parents":["HP:0007375"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle.","id":"HP:0030284","name":"Triangular tongue","obsolete":false,"parents":["HP:0000158"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangle shaped tongue"},{"scope":"EXACT","text":"Triangular tongue"}]} +{"alt_ids":[],"definition":"Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle.","id":"HP:0030285","name":"Splayed superior cerebellar peduncle","obsolete":false,"parents":["HP:0011932"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Atrophy of the superior cerebellar peduncle.","id":"HP:0030286","name":"Atrophic superior cerebellar peduncle","obsolete":false,"parents":["HP:0011932"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal flattening of an epiphysis of femur.","id":"HP:0030289","name":"Flattened femoral epiphysis","obsolete":false,"parents":["HP:0003071"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flattended end part of thigh bone"}]} +{"alt_ids":[],"definition":"Lack of ossification of the sacrum.","id":"HP:0030290","name":"Unossified sacrum","obsolete":false,"parents":["HP:0025370"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of sacrum ossification"}]} +{"alt_ids":[],"definition":"Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg.","id":"HP:0030291","name":"Lower-limb metaphyseal irregularity","obsolete":false,"parents":["HP:0003025"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Irregularity of the normally smooth surface of a metaphysis of a tibia.","id":"HP:0030292","name":"Tibial metaphyseal irregularity","obsolete":false,"parents":["HP:0030291"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Irregularity of the normally smooth surface of a metaphysis of a fibula.","id":"HP:0030293","name":"Fibular metaphyseal irregularity","obsolete":false,"parents":["HP:0030291"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregularity of wide portion of calf bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030294","name":"Metaphyseal chondromatosis of tibia","obsolete":false,"parents":["HP:0005868"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030295","name":"Metaphyseal chondromatosis of femur","obsolete":false,"parents":["HP:0005868"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030296","name":"Metaphyseal chondromatosis of radius","obsolete":false,"parents":["HP:0005868"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030297","name":"Metaphyseal chondromatosis of ulna","obsolete":false,"parents":["HP:0005868"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030298","name":"Metaphyseal chondromatosis of humerus","obsolete":false,"parents":["HP:0005868"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the metaphysis of the distal femur (close to the knee).","id":"HP:0030299","name":"Abnormal distal femoral metaphysis morphology","obsolete":false,"parents":["HP:0006489"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of wide portion of outermost thighbone"},{"scope":"EXACT","text":"Distal femoral metaphyseal abnormality"}]} +{"alt_ids":[],"definition":"Presence of only 10 (instead of the usual 12) pairs of ribs.","id":"HP:0030300","name":"10 pairs of ribs","obsolete":false,"parents":["HP:0000921"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"10 pairs of ribs"}]} +{"alt_ids":[],"definition":"An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts.","id":"HP:0030301","name":"Abnormality of the anterior commissure","obsolete":false,"parents":["HP:0002500"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the anterior commissure.","id":"HP:0030302","name":"Agenesis of the anterior commissure","obsolete":false,"parents":["HP:0030301"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of the anterior commissure.","id":"HP:0030303","name":"Hypoplastic anterior commissure","obsolete":false,"parents":["HP:0030301"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal number of vertebrae in the spinal column.","id":"HP:0030304","name":"Abnormal number of vertebrae","obsolete":false,"parents":["HP:0003468"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030305","name":"Decreased number of vertebrae","obsolete":false,"parents":["HP:0030304"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of 11 instead of the normal 12 thoracic vertebrae.","id":"HP:0030306","name":"11 thoracic vertebrae","obsolete":false,"parents":["HP:0030305"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg.","id":"HP:0030307","name":"Flared lower limb metaphysis","obsolete":false,"parents":["HP:0003015"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flared metaphysis of lower limb bone"}]} +{"alt_ids":[],"definition":"The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia.","id":"HP:0030308","name":"Flared distal tibial metaphysis","obsolete":false,"parents":["HP:0030307"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flared outermost metaphysis of shankbone"},{"scope":"EXACT","text":"Flared outermost metaphysis of shinbone"}]} +{"alt_ids":[],"definition":"The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula.","id":"HP:0030309","name":"Flared distal fibular metaphysis","obsolete":false,"parents":["HP:0030307"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flared outermost wide portion of of calf bone"}]} +{"alt_ids":[],"definition":"Displacement or malalignment of one or more joints in the upper extremity (arm).","id":"HP:0030310","name":"Upper extremity joint dislocation","obsolete":false,"parents":["HP:0001373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dislocated arm joints"}]} +{"alt_ids":[],"definition":"Displacement or malalignment of one or more joints in the lower extremity (leg).","id":"HP:0030311","name":"Lower extremity joint dislocation","obsolete":false,"parents":["HP:0001373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dislocated leg joints"}]} +{"alt_ids":[],"definition":"Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe).","id":"HP:0030312","name":"Obliteration of the calvarial diploe","obsolete":false,"parents":["HP:0002683"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Obliteration of cranial cancellous bone"}]} +{"alt_ids":["HP:0040166"],"definition":"An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones.","id":"HP:0030313","name":"Abnormal periosteum morphology","obsolete":false,"parents":["HP:0011842"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal deposition of periosteal bone.","id":"HP:0030314","name":"Periostosis","obsolete":false,"parents":["HP:0030313"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of inflammation of the lips involving one or both of the corners of the mouth.","id":"HP:0030318","name":"Angular cheilitis","obsolete":false,"parents":["HP:0100825"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Angular cheilosis"},{"scope":"EXACT","text":"Angular stomatitis"},{"scope":"EXACT","text":"Commissural cheilitis"},{"scope":"EXACT","text":"Inflammation of corners of the mouth"},{"scope":"EXACT","text":"Inflammation of oral commisures"},{"scope":"EXACT","text":"Red and sore corners of the mouth"}]} +{"alt_ids":[],"definition":"Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).","id":"HP:0030319","name":"Weakness of facial musculature","obsolete":false,"parents":["HP:0000301"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased facial muscle strength"},{"scope":"EXACT","text":"Decreased strength of facial muscles"},{"scope":"EXACT","text":"Face weakness"},{"scope":"EXACT","text":"Facial muscle weakness"},{"scope":"EXACT","text":"Facial weakness"},{"scope":"EXACT","text":"Myasthenia of facial muscles"},{"scope":"EXACT","text":"Reduced facial muscle strength"},{"scope":"EXACT","text":"Weakness of face"},{"scope":"EXACT","text":"Weakness of facial musculature"}]} +{"alt_ids":[],"definition":"An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space.","id":"HP:0030320","name":"Increased intervertebral space","obsolete":false,"parents":["HP:0005108"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system.","id":"HP:0030321","name":"Abnormal vertebral artery morphology","obsolete":false,"parents":["HP:0011004"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the vertebral artery"}]} +{"alt_ids":[],"definition":"Underdevelopment of the vertebral artery.","id":"HP:0030322","name":"Vertebral artery hypoplasia","obsolete":false,"parents":["HP:0030321"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of the vertebral artery on one side.","id":"HP:0030323","name":"Unilateral vertebral artery hypoplasia","obsolete":false,"parents":["HP:0030322"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of the vertebral artery on both sides.","id":"HP:0030324","name":"Bilateral vertebral artery hypoplasia","obsolete":false,"parents":["HP:0030322"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fissure within the spinal cord of the neck.","id":"HP:0030325","name":"Cervicomedullary schisis","obsolete":false,"parents":["HP:0002143"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly in the number of macrophages.","id":"HP:0030326","name":"Abnormal macrophage count","obsolete":false,"parents":["HP:0004311"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly in the number of osteoclasts in bone tissue, bone-resorbing cells that develop from macrophages. This finding can be observed by histological examination of bone tissue.","id":"HP:0030327","name":"Abnormal osteoclast count","obsolete":false,"parents":["HP:0003330"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased number of osteoclasts in bone tissue.","id":"HP:0030328","name":"Decreased osteoclast count","obsolete":false,"parents":["HP:0030327"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT).","id":"HP:0030329","name":"Retinal thinning on OCT","obsolete":false,"parents":["HP:0020040"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Retinal thinning"}]} +{"alt_ids":[],"definition":"The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage.","id":"HP:0030330","name":"Multinucleated giant chondrocytes in epiphyseal cartilage","obsolete":false,"parents":["HP:0005930","HP:0032929"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth).","id":"HP:0030331","name":"Impaired stimulus-induced skin wrinkling","obsolete":false,"parents":["HP:0011122"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030332","name":"obsolete Abnormal T cell morphology","obsolete":true,"parents":[],"replaced_by":["HP:0002843"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030333","name":"obsolete Abnormal alpha-beta T cell morphology","obsolete":true,"parents":[],"replaced_by":["HP:0002843"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030334","name":"obsolete Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology","obsolete":true,"parents":[],"replaced_by":["HP:0020111"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030335","name":"obsolete Abnormal CD4-positive, CD25-positive regulatory T cell count","obsolete":true,"parents":[],"replaced_by":["HP:0020111"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030336","name":"obsolete Absence of CD4-positive, CD25-positive regulatory T cells","obsolete":true,"parents":[],"replaced_by":["HP:0020113"],"synonyms":[{"scope":"EXACT","text":"Absence of CD4+CD25+ Tregs"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030337","name":"obsolete Elevated CD4-positive, CD25-positive regulatory T cell count","obsolete":true,"parents":[],"replaced_by":["HP:0020112"],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).","id":"HP:0030338","name":"Abnormal circulating gonadotropin concentration","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal circulating gonadotropin level"}]} +{"alt_ids":[],"definition":"A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).","id":"HP:0030339","name":"Decreased circulating gonadotropin concentration","obsolete":false,"parents":["HP:0030338"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating gonadotropin level"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030340","name":"obsolete Increased circulating gonadotropin level","obsolete":true,"parents":[],"replaced_by":["HP:0000837"],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction of the circulating level of follicle-stimulating hormone (FSH).","id":"HP:0030341","name":"Decreased circulating follicle stimulating hormone concentration","obsolete":false,"parents":["HP:0030339","HP:0030346"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating follicle stimulating hormone level"}]} +{"alt_ids":[],"definition":"A reduction in the circulating level of luteinizing hormone (LH).","id":"HP:0030344","name":"Decreased circulating luteinizing hormone level","obsolete":false,"parents":["HP:0030339","HP:0030345"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating luteinising hormone level"}]} +{"alt_ids":[],"definition":"An anomaly of the circulating level of luteinizing hormone (LH).","id":"HP:0030345","name":"Abnormal circulating luteinizing hormone concentration","obsolete":false,"parents":["HP:0030338"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal circulating luteinizing hormone level"},{"scope":"EXACT","text":"Abnormal luteinizing hormone level"},{"scope":"EXACT","text":"Increased circulating lutropin"}]} +{"alt_ids":[],"definition":"An anomaly of the circulating level of follicle-stimulating hormone (FSH).","id":"HP:0030346","name":"Abnormal circulating follicle-stimulating hormone concentration","obsolete":false,"parents":["HP:0030338"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal circulating follicle-stimulating hormone level"}]} +{"alt_ids":[],"definition":"An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.","id":"HP:0030347","name":"Abnormal circulating androgen level","obsolete":false,"parents":["HP:0033799"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.","id":"HP:0030348","name":"Increased circulating androgen concentration","obsolete":false,"parents":["HP:0030347"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperandrogenemia"},{"scope":"EXACT","text":"Increased circulating androgen level"}]} +{"alt_ids":[],"definition":"A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.","id":"HP:0030349","name":"Decreased circulating androgen concentration","obsolete":false,"parents":["HP:0030347"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating androgen level"}]} +{"alt_ids":[],"definition":"A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.","id":"HP:0030350","name":"Erythematous papule","obsolete":false,"parents":["HP:0200034"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Red-blue papule"}]} +{"alt_ids":[],"definition":"A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter.","id":"HP:0030351","name":"Urticarial plaque","obsolete":false,"parents":["HP:0200035"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation.","id":"HP:0030352","name":"Abnormal circulating insulin-like growth factor 1 concentration","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal serum insulin-like growth factor 1 level"}]} +{"alt_ids":[],"definition":"The concentration of insulin-like growth factor 1 (IGF1) in the blood circulation is below the lower limit of normal.","id":"HP:0030353","name":"Decreased circulating insulin-like growth factor 1 concentration","obsolete":false,"parents":["HP:0030352"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030354","name":"obsolete Abnormal circulating interferon concentration","obsolete":true,"parents":[],"replaced_by":["HP:0011116"],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal levels of interferon gamma measured in the blood circulation.","id":"HP:0030355","name":"Abnormal circulating interferon-gamma concentration","obsolete":false,"parents":["HP:0011116"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal serum interferon-gamma level"}]} +{"alt_ids":[],"definition":"An elevation in the concentration of interferon gamma measured in the blood circulation.","id":"HP:0030356","name":"Increased circulating interferon-gamma concentration","obsolete":false,"parents":["HP:0030355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased serum interferon-gamma level"}]} +{"alt_ids":[],"definition":"Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly.","id":"HP:0030357","name":"Small cell lung carcinoma","obsolete":false,"parents":["HP:0100526"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Oat cell carcinoma of lung"},{"scope":"EXACT","text":"Oat cell lung cancer"},{"scope":"EXACT","text":"Small cell lung cancer"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030358","name":"Non-small cell lung carcinoma","obsolete":false,"parents":["HP:0100526"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Non-small cell lung cancer"}]} +{"alt_ids":[],"definition":"A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells.","id":"HP:0030359","name":"Squamous cell lung carcinoma","obsolete":false,"parents":["HP:0030358"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin.","id":"HP:0030360","name":"Large cell lung carcinoma","obsolete":false,"parents":["HP:0030358"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of icosanoid in the blood circulation.","id":"HP:0030361","name":"Abnormal circulating icosanoid concentration","obsolete":false,"parents":["HP:0011022"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal icosanoid level"},{"scope":"EXACT","text":"Abnormality of icosanoid metabolism"}]} +{"alt_ids":[],"definition":"A reduction in the level of carnitine in muscle tissue.","id":"HP:0030362","name":"Reduced muscle carnitine level","obsolete":false,"parents":["HP:0034370"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section.","id":"HP:0030363","name":"Primary Caesarian section","obsolete":false,"parents":["HP:0011410"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth.","id":"HP:0030364","name":"Secondary Caesarian section","obsolete":false,"parents":["HP:0011410"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Vaginal birth after Caesarean (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally.","id":"HP:0030365","name":"Vaginal birth after Caesarean","obsolete":false,"parents":["HP:0001787"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process.","id":"HP:0030366","name":"Delivery by Odon device","obsolete":false,"parents":["HP:0001787"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges.","id":"HP:0030367","name":"Finger hyperphalangy","obsolete":false,"parents":["HP:0005918"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy.","id":"HP:0030368","name":"Hyperphalangy of the 2nd finger","obsolete":false,"parents":["HP:0030367"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperphalangy of index finger"}]} +{"alt_ids":[],"definition":"Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own.","id":"HP:0030369","name":"Induced vaginal delivery","obsolete":false,"parents":["HP:0001787"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase or decrease of the naive B cell subpopulation, commonly characterized as CD27-IgM+, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group.","id":"HP:0030370","name":"Abnormal naive B cell proportion","obsolete":false,"parents":["HP:0025539"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal proportion of naive B cells"}]} +{"alt_ids":[],"definition":"The proportion of naive B cellsin the blood circulation is above the upper limit of normal with respect to the reference range for a given sex and age-group.","id":"HP:0030371","name":"Increased naive B cell proportion","obsolete":false,"parents":["HP:0030370"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased proportion of naive B cells"}]} +{"alt_ids":[],"definition":"The proportion of naive B cellsin the blood circulation is below the lower limit of normal with respect to the reference range for a given sex and age-group.","id":"HP:0030372","name":"Decreased naive B cell proportion","obsolete":false,"parents":["HP:0030370"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased proportion of naive B cells"}]} +{"alt_ids":[],"definition":"A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).","id":"HP:0030373","name":"Abnormal memory B cell proportion","obsolete":false,"parents":["HP:0025539"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal proportion of memory B cells"}]} +{"alt_ids":[],"definition":"A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).","id":"HP:0030374","name":"Decreased memory B cell proportion","obsolete":false,"parents":["HP:0030373"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).","id":"HP:0030375","name":"Increased memory B cell proportion","obsolete":false,"parents":["HP:0030373"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).","id":"HP:0030376","name":"Abnormal immature B cell proportion","obsolete":false,"parents":["HP:0025539"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal proportion of CD19+/CD21low B cells"},{"scope":"EXACT","text":"Abnormal proportion of immature B cells"}]} +{"alt_ids":[],"definition":"An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).","id":"HP:0030377","name":"Increased immature B cell proportion","obsolete":false,"parents":["HP:0030376"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased proportion of CD19+/CD21low B cells"},{"scope":"EXACT","text":"Increased proportion of immature B cells"}]} +{"alt_ids":[],"definition":"A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).","id":"HP:0030378","name":"Decreased immature B cell proportion","obsolete":false,"parents":["HP:0030376"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased proportion of CD19+/CD21low B cells"},{"scope":"EXACT","text":"Decreased proportion of immature B cells"}]} +{"alt_ids":[],"definition":"Abnormal increase or decrease of the transitional B cell subpopulation, commonly characterized as CD27-CD24hiCD38hi or CD27-IgMhiCD38hi, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group.","id":"HP:0030379","name":"Abnormal transitional B cell proportion","obsolete":false,"parents":["HP:0025539"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal proportion of CD19+CD38+IgM+ cells"},{"scope":"EXACT","text":"Abnormal proportion of transitional B cells"}]} +{"alt_ids":[],"definition":"Abnormal decrease of the transitional B cell subpopulation, commonly characterized as CD27-CD24hiCD38hi or CD27-IgMhiCD38hi, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group.","id":"HP:0030380","name":"Decreased transitional B cell proportion","obsolete":false,"parents":["HP:0030379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased proportion of CD19+CD38+IgM+ cells"},{"scope":"EXACT","text":"Decreased proportion of transitional B cells"}]} +{"alt_ids":[],"definition":"Abnormal increase of the transitional B cell subpopulation, commonly characterized as CD27-CD24hiCD38hi or CD27-IgMhiCD38hi, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group.","id":"HP:0030381","name":"Increased transitional B cell proportion","obsolete":false,"parents":["HP:0030379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased proportion of CD19+CD38+IgM+ cells"},{"scope":"EXACT","text":"Increased proportion of transitional B cells"}]} +{"alt_ids":[],"definition":"A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.","id":"HP:0030383","name":"Abnormal marginal zone B cell proportion","obsolete":false,"parents":["HP:0030373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal proportion of marginal zone B cells"}]} +{"alt_ids":[],"definition":"A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.","id":"HP:0030384","name":"Decreased marginal zone B cell proportion","obsolete":false,"parents":["HP:0030383"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevation in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.","id":"HP:0030385","name":"Increased marginal zone B cell proportion","obsolete":false,"parents":["HP:0030383"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.","id":"HP:0030386","name":"Abnormal class-switched memory B cell proportion","obsolete":false,"parents":["HP:0030373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal proportion of CD19+CD27+IgD- cells"},{"scope":"EXACT","text":"Abnormal proportion of class-switched memory B cells"}]} +{"alt_ids":[],"definition":"An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.","id":"HP:0030387","name":"Increased class-switched memory B cell proportion","obsolete":false,"parents":["HP:0030375","HP:0030386"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased proportion of CD19+CD27+IgD- cells"}]} +{"alt_ids":[],"definition":"A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.","id":"HP:0030388","name":"Decreased class-switched memory B cell proportion","obsolete":false,"parents":["HP:0030374","HP:0030386"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased proportion of CD19+CD27+IgD- cells"},{"scope":"EXACT","text":"Decreased proportion of class-switched memory B cells"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of thromboxane in the blood circulation.","id":"HP:0030389","name":"Abnormal circulating thromboxane concentration","obsolete":false,"parents":["HP:0030361"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal thromboxane level"}]} +{"alt_ids":[],"definition":"An abnormally decreased concentration of leukotriene C4 in the blood circulation.","id":"HP:0030390","name":"Reduced circulating leukotriene C4 concentration","obsolete":false,"parents":["HP:0030361"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus.","id":"HP:0030391","name":"Spoken word recognition deficit","obsolete":false,"parents":["HP:0002463"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III.","id":"HP:0030392","name":"Choroid plexus carcinoma","obsolete":false,"parents":["HP:0007376","HP:0100836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin).","id":"HP:0030393","name":"Endolymphatic sac tumor","obsolete":false,"parents":["HP:0040096"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aggressive papillary middle ear tumor"},{"scope":"EXACT","text":"Aggressive papillary middle ear tumour"},{"scope":"EXACT","text":"Endolymphatic sac tumour"},{"scope":"EXACT","text":"Heffner tumor"},{"scope":"EXACT","text":"Heffner tumour"},{"scope":"EXACT","text":"Low-grade adenocarcinoma of endolymphatic sac origin"}]} +{"alt_ids":[],"definition":"Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk.","id":"HP:0030394","name":"Fallopian tube carcinoma","obsolete":false,"parents":["HP:0033020"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion.","id":"HP:0030396","name":"Abnormal platelet granule secretion","obsolete":false,"parents":["HP:0011869"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal release of dense granules from platelets.","id":"HP:0030397","name":"Abnormal platelet dense granule secretion","obsolete":false,"parents":["HP:0030396"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP).","id":"HP:0030398","name":"Abnormal platelet ATP dense granule secretion","obsolete":false,"parents":["HP:0030397"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal release of alpha granule contents from platelets.","id":"HP:0030399","name":"Abnormal platelet alpha granule secretion","obsolete":false,"parents":["HP:0030396"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal release of lysosome contents from platelets.","id":"HP:0030400","name":"Abnormal platelet lysosome secretion","obsolete":false,"parents":["HP:0030396"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets.","id":"HP:0030401","name":"Abnormal platelet dense granule ATP/ADP ratio","obsolete":false,"parents":["HP:0012484"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.","id":"HP:0030402","name":"Abnormal platelet aggregation","obsolete":false,"parents":["HP:0011869"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation.","id":"HP:0030403","name":"Spontaneous platelet aggregation","obsolete":false,"parents":["HP:0030402"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An endocrine tumor of the pancreas that secretes excessive amounts of glucagon.","id":"HP:0030404","name":"Glucagonoma","obsolete":false,"parents":["HP:0030405"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas.","id":"HP:0030405","name":"Pancreatic endocrine tumor","obsolete":false,"parents":["HP:0100634"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pancreatic endocrine tumour"}]} +{"alt_ids":[],"definition":"A type of cancer that originates in the peritoneum. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum.","id":"HP:0030406","name":"Primary peritoneal carcinoma","obsolete":false,"parents":["HP:0007378"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumor (WHO grade I).","id":"HP:0030407","name":"Pineocytoma","obsolete":false,"parents":["HP:0030694"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0040193"],"definition":"Pineoblastoma is a rare primitive neuroectodermal tumor (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumor and comprise one-fourth to one-half of pineal parenchymal tumors. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells.","id":"HP:0030408","name":"Pineoblastoma","obsolete":false,"parents":["HP:0030694"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pinealoblastoma"}]} +{"alt_ids":[],"definition":"A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice.","id":"HP:0030409","name":"Renal transitional cell carcinoma","obsolete":false,"parents":["HP:0009726"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Renal urothelial carcinoma"},{"scope":"EXACT","text":"Transitional renal cell carcinoma"},{"scope":"EXACT","text":"renal TCC"}]} +{"alt_ids":[],"definition":"A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance)","id":"HP:0030410","name":"Sebaceous gland carcinoma","obsolete":false,"parents":["HP:0012842"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sebaceous carcinoma"}]} +{"alt_ids":[],"definition":"A malignant epithelial tumor with a glandular organization that originates in the jejunum.","id":"HP:0030411","name":"Jejunal adenocarcinoma","obsolete":false,"parents":["HP:0040274"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A malignant epithelial tumor with a glandular organization that originates in the ileum.","id":"HP:0030412","name":"Ileal adenocarcinoma","obsolete":false,"parents":["HP:0040274"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A carcinoma derived from a squamous epithelial cell of the tongue.","id":"HP:0030413","name":"Squamous cell carcinoma of the tongue","obsolete":false,"parents":["HP:0020357","HP:0100648"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance.","id":"HP:0030414","name":"Verrucous cell carcinoma of the tongue","obsolete":false,"parents":["HP:0030413"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation.","id":"HP:0030415","name":"Sarcomatoid carcinoma of the tongue","obsolete":false,"parents":["HP:0030413"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spindle cell carcinoma of the tongue"}]} +{"alt_ids":[],"definition":"A tumor (abnormal growth of tissue) of the female external genital tract (vulva).","id":"HP:0030416","name":"Vulvar neoplasm","obsolete":false,"parents":["HP:0033020"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neoplasm of the vulva"},{"scope":"EXACT","text":"Tumor of the vulva"},{"scope":"EXACT","text":"Tumour of the vulva"}]} +{"alt_ids":[],"definition":"A cancer that originates in the squamous cells that line the surface of the vulva.","id":"HP:0030417","name":"Squamous cell carcinoma of the vulva","obsolete":false,"parents":["HP:0030416"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vulval squamous cell carcinoma"}]} +{"alt_ids":[],"definition":"A type of vulvar cancer that originates from melanocytes of the vulva.","id":"HP:0030418","name":"Vulvar melanoma","obsolete":false,"parents":["HP:0030416"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A cancer arising in a cell of the Bartholin gland, a racemose gland located slightly posterior to the opening of the vagina.","id":"HP:0030419","name":"Bartholin gland carcinoma","obsolete":false,"parents":["HP:0030416"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An adenocarcinoma arising in the vulva.","id":"HP:0030420","name":"Vulvar adenocarcinoma","obsolete":false,"parents":["HP:0030416"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens.","id":"HP:0030421","name":"Epididymal neoplasm","obsolete":false,"parents":["HP:0010785"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030422","name":"obsolete Papillary cystadenoma of the epididymis","obsolete":true,"parents":[],"replaced_by":["HP:0009715"],"synonyms":[]} +{"alt_ids":[],"definition":"A closed sac located in the spleen.","id":"HP:0030423","name":"Splenic cyst","obsolete":false,"parents":["HP:0025408"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cyst on spleen"}]} +{"alt_ids":[],"definition":"A smooth, extratesticular, spherical cyst in the head of the epididymis.","id":"HP:0030424","name":"Epididymal cyst","obsolete":false,"parents":["HP:0009714"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Epididymal cysts"}]} +{"alt_ids":[],"definition":"A cyst of the ovary that exhibits deposition of calcium salts.","id":"HP:0030425","name":"Calcified ovarian cyst","obsolete":false,"parents":["HP:0000138"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign central bone tumor composed of fibrous connective tissue within which bone is formed.","id":"HP:0030426","name":"Ossifying fibroma","obsolete":false,"parents":["HP:0010614"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed.","id":"HP:0030427","name":"Ossifying fibroma of the jaw","obsolete":false,"parents":["HP:0030426","HP:0100649"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A myxoma originating in the skin.","id":"HP:0030428","name":"Cutaneous myxoma","obsolete":false,"parents":["HP:0008069"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity.","id":"HP:0030429","name":"Juvenile nasopharyngeal angiofibroma","obsolete":false,"parents":["HP:0012288"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tumor made up of nerve cells and nerve fibers.","id":"HP:0030430","name":"Neuroma","obsolete":false,"parents":["HP:0100007"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nerve tumor"},{"scope":"EXACT","text":"Nerve tumour"},{"scope":"EXACT","text":"Pinched nerve"}]} +{"alt_ids":[],"definition":"A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.","id":"HP:0030431","name":"Osteochondroma","obsolete":false,"parents":["HP:0010622"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Osteocartilaginous exostoses"},{"scope":"EXACT","text":"Osteochondromas"}]} +{"alt_ids":[],"definition":"A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells.","id":"HP:0030432","name":"Chondroblastoma","obsolete":false,"parents":["HP:0010622"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A bening tumor of bone composed of a central zone named nidus which is an atypical bone completely enclosed within a well vascularized stroma and a peripheral sclerotic reaction zone.","id":"HP:0030433","name":"Osteoid osteoma","obsolete":false,"parents":["HP:0100246"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm.","id":"HP:0030434","name":"Pilomatrixoma","obsolete":false,"parents":["HP:0012842"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation.","id":"HP:0030436","name":"Fibrofolliculoma","obsolete":false,"parents":["HP:0008069"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fibrofolliculomas"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030437","name":"Anal canal neoplasm","obsolete":false,"parents":["HP:0032186","HP:0100834"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anal canal tumor"},{"scope":"EXACT","text":"Anal canal tumour"}]} +{"alt_ids":[],"definition":"A squamous cell carcinoma that originates in the anal canal.","id":"HP:0030438","name":"Anal canal squamous cell carcinoma","obsolete":false,"parents":["HP:0030437"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An adenoma carcinoma that originates in the anal canal.","id":"HP:0030439","name":"Anal canal adenocarcinoma","obsolete":false,"parents":["HP:0030437","HP:0040275"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tumor of the anal margin.","id":"HP:0030440","name":"Anal margin neoplasm","obsolete":false,"parents":["HP:0007378"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An intraepithelial adenocarcinoma originating in the anal margin and characterized by presence of typical Paget's cells, appearing as large rounded vacuolated cells.","id":"HP:0030441","name":"Anal margin Paget's disease","obsolete":false,"parents":["HP:0030440"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A squamous cell carcinoma that originates in the skin of the anal margin.","id":"HP:0030442","name":"Anal margin squamous cell carcinoma","obsolete":false,"parents":["HP:0030440"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A basal cell carcinoma that originates in the anal margin.","id":"HP:0030443","name":"Anal margin basal cell carcinoma","obsolete":false,"parents":["HP:0030440"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A melanoma that originates in the anal margin.","id":"HP:0030444","name":"Anal margin melanoma","obsolete":false,"parents":["HP:0030440"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma.","id":"HP:0030445","name":"Pulmonary carcinoid tumor","obsolete":false,"parents":["HP:0100570"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lung carcinoid tumor"},{"scope":"EXACT","text":"Lung carcinoid tumour"},{"scope":"EXACT","text":"Pulmonary carcinoid tumour"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030446","name":"Atypical pulmonary carcinoid tumor","obsolete":false,"parents":["HP:0030445"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atypical pulmonary carcinoid tumour"}]} +{"alt_ids":[],"definition":"A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features.","id":"HP:0030447","name":"Merkel cell skin cancer","obsolete":false,"parents":["HP:0008069","HP:0040192"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anaplastic carcinoma of the skin"},{"scope":"EXACT","text":"Cutaneous APUDoma"},{"scope":"EXACT","text":"Merkel cell cancer of the skin"},{"scope":"EXACT","text":"Neuroendocrine carcinoma of the skin"},{"scope":"EXACT","text":"Neuroendocrine tumor of the skin"},{"scope":"EXACT","text":"Neuroendocrine tumour of the skin"},{"scope":"EXACT","text":"Primary small cell carcinoma of the skin"},{"scope":"EXACT","text":"Primary undifferentiated carcinoma of the skin"}]} +{"alt_ids":[],"definition":"A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues.","id":"HP:0030448","name":"Soft tissue sarcoma","obsolete":false,"parents":["HP:0100242"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Soft tissue sarcomas"}]} +{"alt_ids":[],"definition":"Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice.","id":"HP:0030449","name":"Therapeutic abortion","obsolete":false,"parents":["HP:0001787"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tumor that arises from an element of the autonomic nervous system.","id":"HP:0030450","name":"Neoplasm of the autonomic nervous system","obsolete":false,"parents":["HP:0100007"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A closed fluid filled sac originating from the mesentary.","id":"HP:0030451","name":"Mesenteric cyst","obsolete":false,"parents":["HP:0100016"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid.","id":"HP:0030452","name":"Chylolymphatic mesenteric cyst","obsolete":false,"parents":["HP:0030451"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030453","name":"Abnormal visual electrophysiology","obsolete":false,"parents":["HP:0012373"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation.","id":"HP:0030454","name":"Abnormal electrooculogram","obsolete":false,"parents":["HP:0030453"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal EOG"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030455","name":"Abnormality of pattern visual evoked potentials","obsolete":false,"parents":["HP:0000649"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030456","name":"Abnormality of pattern onset/offset visual evoked potentials","obsolete":false,"parents":["HP:0030455"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of pattern onset/offset VEP"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030457","name":"Abnormal amplitude of pattern onset/offset visual evoked potentials","obsolete":false,"parents":["HP:0030456"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal amplitude of pattern onset/offset VEP"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030458","name":"Abnormal timing of pattern onset/offset visual evoked potentials","obsolete":false,"parents":["HP:0030456"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030460","name":"Abnormal timing of pattern reversal visual evoked potentials","obsolete":false,"parents":["HP:0100289"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030461","name":"Abnormal timing of flash visual evoked potentials","obsolete":false,"parents":["HP:0007928"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030462","name":"Abnormal amplitude of flash visual evoked potentials","obsolete":false,"parents":["HP:0007928"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030463","name":"Asymmetrical distribution of flash visual evoked potentials","obsolete":false,"parents":["HP:0007928"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Crossed asymmetry of flash visual evoked potentials"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030464","name":"Asymmetrical distribution of pattern reversal visual evoked potentials","obsolete":false,"parents":["HP:0100289"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Crossed asymmetry of pattern reversal visual evoked potentials"}]} +{"alt_ids":[],"definition":"No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells.","id":"HP:0030465","name":"Undetectable light-adapted electroretinogram","obsolete":false,"parents":["HP:0008275"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent photopic (cone) responses on ERG"},{"scope":"EXACT","text":"non-detectable photopic ERG"}]} +{"alt_ids":[],"definition":"An anomaly observed by full-field electroretinogram (ffERG). The ffERG measures the light-induced electrical activity of the retina at the corneal surface. Specifically, the ffERG records the global or total retinal electrical response to a full-field (Ganzfield) light stimulus. Isolation of the rod and cone components has important diagnostic value in differentiating between various retinal diseases. Modifying the properties of the light-stimulus (wavelength, strength, and flicker rate) as well as the adaptive state of the retina can separate the rod and cone functions of the ffERG.","id":"HP:0030466","name":"Abnormal full-field electroretinogram","obsolete":false,"parents":["HP:0000512"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light.","id":"HP:0030467","name":"Abnormal pattern electroretinogram","obsolete":false,"parents":["HP:0000512"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030468","name":"Abnormal multifocal electroretinogram","obsolete":false,"parents":["HP:0000512"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An electroretinographic anomaly detected by dark-adapted full-field ERG. The dark adapted ERG targets rod-pathway function.","id":"HP:0030469","name":"Abnormal dark-adapted electroretinogram","obsolete":false,"parents":["HP:0030466"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030470","name":"Abnormal dark-adapted bright flash electroretinogram","obsolete":false,"parents":["HP:0030469"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030471","name":"Abnormal dark-adapted dim flash electroretinogram","obsolete":false,"parents":["HP:0030469"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030472","name":"Abnormal light-adapted single flash electroretinogram","obsolete":false,"parents":["HP:0008275"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030473","name":"Abnormal light-adapted flicker electroretinogram","obsolete":false,"parents":["HP:0008275"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal light adapted flicker electroretinogram"},{"scope":"EXACT","text":"Abnormal light-adapted 30Hz flicker ERG"},{"scope":"EXACT","text":"Abnormal light-adapted 30Hz flicker electroretinogram"},{"scope":"EXACT","text":"Abnormal light-adapted flicker ERG"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030474","name":"Undetectable dark-adapted electroretinogram","obsolete":false,"parents":["HP:0030469"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030475","name":"Abnormal timing of dark-adapted dim flash electroretinogram","obsolete":false,"parents":["HP:0030471"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030476","name":"Abnormal amplitude of dark-adapted dim flash electroretinogram","obsolete":false,"parents":["HP:0030471"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030477","name":"Abnormal timing of dark-adapted bright flash electroretinogram","obsolete":false,"parents":["HP:0030470"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030478","name":"Abnormal amplitude of dark-adapted bright flash electroretinogram","obsolete":false,"parents":["HP:0030470"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030479","name":"Abnormal amplitude of light-adapted flicker electroretinogram","obsolete":false,"parents":["HP:0030473"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030480","name":"Abnormal timing of light-adapted flicker electroretinogram","obsolete":false,"parents":["HP:0030473"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030481","name":"Abnormal amplitude of light-adapted single flash electroretinogram","obsolete":false,"parents":["HP:0030472"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030482","name":"Abnormal timing of light-adapted single flash electroretinogram","obsolete":false,"parents":["HP:0030472"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal reduction in the amplitude of the a-wave.","id":"HP:0030483","name":"Reduced amplitude of dark-adapted bright flash electroretinogram a-wave","obsolete":false,"parents":["HP:0030478"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The b-wave amplitude exceeding the upper limit of normal under scotopic (dark-adapted) conditions with high-intensity stimulation.","id":"HP:0030484","name":"Supernormal dark-adapted bright flash electroretinogram b-wave","obsolete":false,"parents":["HP:0030478"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Relatively enhanced S-cone responses"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030485","name":"Abnormal amplitude of pattern electroretinogram","obsolete":false,"parents":["HP:0030467"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030486","name":"Abnormal timing of pattern electroretinogram","obsolete":false,"parents":["HP:0030467"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030487","name":"Abnormal P50/N95 ratio of pattern electroretinogram","obsolete":false,"parents":["HP:0030467"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030488","name":"Abnormal central response of multifocal electroretinogram","obsolete":false,"parents":["HP:0030468"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030489","name":"Abnormal paracentral response of multifocal electroretinogram","obsolete":false,"parents":["HP:0030468"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030490","name":"Exudative vitreoretinopathy","obsolete":false,"parents":["HP:0007773"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Atrophy of the capillary lamina of choroid.","id":"HP:0030491","name":"Choriocapillaris atrophy","obsolete":false,"parents":["HP:0000533"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased or decreased pigmentation in the fovea.","id":"HP:0030493","name":"Abnormal foveal pigmentation","obsolete":false,"parents":["HP:0000493","HP:0008002"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of foveal pigmentation"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030494","name":"obsolete Macular microaneurysm/hemorrhage","obsolete":true,"parents":[],"replaced_by":["HP:0032416"],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the blood vessels of the macula.","id":"HP:0030495","name":"Abnormal macular vasculature morphology","obsolete":false,"parents":["HP:0001103","HP:0008046"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal morphology of the macular vasculature"},{"scope":"EXACT","text":"Abnormality of macular vasculature"}]} +{"alt_ids":[],"definition":"Yellow-white intraretinal deposits in the macula typically associated with damaged inner blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature.","id":"HP:0030496","name":"Macular exudate","obsolete":false,"parents":["HP:0030495"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Macular exudates"},{"scope":"EXACT","text":"Macular exudation"}]} +{"alt_ids":[],"definition":"Fluffy white patch in the macula, representing localized areas of dense white swelling of the retinal nerve fiber layer.","id":"HP:0030497","name":"Macular cotton wool spot","obsolete":false,"parents":["HP:0030500","HP:0031606"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging.","id":"HP:0030498","name":"Macular thickening","obsolete":false,"parents":["HP:0001103"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Drusen localted in the macula.","id":"HP:0030499","name":"Macular drusen","obsolete":false,"parents":["HP:0011510","HP:0030500"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Lipid accumulation in macula"}]} +{"alt_ids":[],"definition":"A type of white and/or yellow lesion located anywhere within the macula. These lesions can be flat or raised and can vary in size from very small to bigger.","id":"HP:0030500","name":"Yellow/white macular lesion","obsolete":false,"parents":["HP:0001103","HP:0030506"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Yellow/white lesion of the macula"}]} +{"alt_ids":[],"definition":"Crystalline deposits in the macula, located intra-retinally.","id":"HP:0030501","name":"Macular crystals","obsolete":false,"parents":["HP:0030500"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Refractile lesions in the macula"}]} +{"alt_ids":[],"definition":"Splitting of the neuroretinal layers of the retina.","id":"HP:0030502","name":"Retinoschisis","obsolete":false,"parents":["HP:0000479"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Localized irregular dilatation of small tortuous intraretinal blood vessels in the macular area.","id":"HP:0030503","name":"Macular telangiectasia","obsolete":false,"parents":["HP:0007763","HP:0030495"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Juxtafoveal telangiectasia"},{"scope":"EXACT","text":"Parafoveal telangiectasia"}]} +{"alt_ids":[],"definition":"Grouped, flat, well-demarcated pigmented lesions at the level of the pigment epithelium (that are said to resemble bear tracks). Less frequently, the lesions may be white ('polar bear tracks').","id":"HP:0030504","name":"Clustered congenital hypertrophy of retinal pigment epithelium","obsolete":false,"parents":["HP:0007649"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bear track congenital hypertrophy of retinal pigment epithelium"},{"scope":"EXACT","text":"Grouped congenital hypertrophy of retinal pigment epithelium"}]} +{"alt_ids":[],"definition":"Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium.","id":"HP:0030505","name":"Nummular pigmentation of the retina","obsolete":false,"parents":["HP:0007703"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nummular pigmentation of the fundus"}]} +{"alt_ids":[],"definition":"An area anywhere within the retina showing pale yellow or white discoloration. Such lesions can be flat or raised and there size can range from very small to big.","id":"HP:0030506","name":"Yellow/white retinal lesion","obsolete":false,"parents":["HP:0000479"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Yellow/white lesions of the retina"}]} +{"alt_ids":[],"definition":"Crystalline deposits in the retina.","id":"HP:0030507","name":"Retinal crystals","obsolete":false,"parents":["HP:0030506"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030508","name":"obsolete Retinal cavernous hemangioma","obsolete":true,"parents":[],"replaced_by":["HP:0011513"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030509","name":"Retinal racemose hemangioma","obsolete":false,"parents":["HP:0009594"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Retinal racemose haemangioma"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030510","name":"Combined hamartoma of the retinal pigment epithelium and retina","obsolete":false,"parents":["HP:0009594"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Difficulty in seeing moving objects.","id":"HP:0030511","name":"Bradyopsia","obsolete":false,"parents":["HP:0000504"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Difficulty seeing moving objects"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030512","name":"Difficulty adjusting to changes in luminance","obsolete":false,"parents":["HP:0000504"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030513","name":"Difficulty adjusting from light to dark","obsolete":false,"parents":["HP:0030512"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030514","name":"Difficulty adjusting from dark to light","obsolete":false,"parents":["HP:0030512"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Moderate reduction of the ability to see. On the 6m visual acuity scale, moderate reduction is defined as less than 6/18 but at least 6/60. On the 20ft visual acuity scale, moderate reduction is defined as less than 20/70 but at least 20/200. On the decimal visual acuity scale, moderate reduction is defined as less than 0.3 but at least 0.1.","id":"HP:0030515","name":"Moderately reduced visual acuity","obsolete":false,"parents":["HP:0007663"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Moderate reduction in visual acuity"},{"scope":"EXACT","text":"Moderate vision loss"},{"scope":"EXACT","text":"Moderate visual impairment"},{"scope":"EXACT","text":"Moderate visual loss"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030516","name":"Homonymous hemianopia","obsolete":false,"parents":["HP:0012377"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Homonymous hemianopsia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030517","name":"Heteronymous hemianopia","obsolete":false,"parents":["HP:0012377"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Heteronymous hemianopsia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030518","name":"Congruous homonymous hemianopia","obsolete":false,"parents":["HP:0030516"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congruous hemianopsia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030519","name":"Congruous heteronymous hemianopia","obsolete":false,"parents":["HP:0030517"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030520","name":"Binasal hemianopia","obsolete":false,"parents":["HP:0030517"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030521","name":"Bitemporal hemianopia","obsolete":false,"parents":["HP:0030517"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians.","id":"HP:0030522","name":"Mild constriction of peripheral visual field","obsolete":false,"parents":["HP:0001133"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mild peripheral visual field loss"}]} 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+{"alt_ids":[],"definition":null,"id":"HP:0030651","name":"Multifocal","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation.","id":"HP:0030652","name":"Vitreous haze","obsolete":false,"parents":["HP:0011531"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any cystic lesion associated with the umbilical cord.","id":"HP:0030654","name":"Umbilical cord cyst","obsolete":false,"parents":["HP:0010881"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord.","id":"HP:0030655","name":"Umbilical cord knot","obsolete":false,"parents":["HP:0010881"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal dilation of the umbilical vein.","id":"HP:0030656","name":"Umbilical vein varix","obsolete":false,"parents":["HP:0010881"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels.","id":"HP:0030657","name":"Umbilical cord hematoma","obsolete":false,"parents":["HP:0010881"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Umbilical cord haematoma"}]} +{"alt_ids":[],"definition":"Insertion of the umbilical cord within 2 cm from the placental edge.","id":"HP:0030658","name":"Marginal umbilical cord insertion","obsolete":false,"parents":["HP:0011418"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Battledore placenta"},{"scope":"EXACT","text":"Marginal cord insertion"}]} +{"alt_ids":[],"definition":"Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta.","id":"HP:0030659","name":"Velamentous cord insertion","obsolete":false,"parents":["HP:0011418"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Branching of the umbilical cord before its insertion into the placenta.","id":"HP:0030660","name":"Furcate cord insertion","obsolete":false,"parents":["HP:0011418"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery.","id":"HP:0030661","name":"Vitreous snowballs","obsolete":false,"parents":["HP:0011531"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous.","id":"HP:0030662","name":"Vitreous inflammatory cells","obsolete":false,"parents":["HP:0011531"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernible gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity.","id":"HP:0030663","name":"Optically empty vitreous","obsolete":false,"parents":["HP:0004327"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibers predominate pulling upwards the umbilicus.","id":"HP:0030664","name":"Beevor's sign","obsolete":false,"parents":["HP:0009023"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements.","id":"HP:0030665","name":"Rubral tremor","obsolete":false,"parents":["HP:0001337"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Holmes' tremor"}]} +{"alt_ids":["HP:0007850"],"definition":"In ischemic retinal disease, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels. Ischemia invariably leads to the upregulation of Vascular Endothelial Growth Factor (VEGF) production. Most frequently the new vessels grow internal to the plane of the retina. However, intraretinal proliferation of new vessels can also occur.","id":"HP:0030666","name":"Retinal neovascularization","obsolete":false,"parents":["HP:0008046"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Retinal vascular proliferation"}]} +{"alt_ids":[],"definition":"A type of retinal neovascularization that affects the periphery of the retina.","id":"HP:0030667","name":"Peripheral retinal neovascularization","obsolete":false,"parents":["HP:0030666"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts.","id":"HP:0030668","name":"Periorbital dermoid cyst","obsolete":false,"parents":["HP:0001144"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.","id":"HP:0030669","name":"Abnormal ocular adnexa morphology","obsolete":false,"parents":["HP:0032039"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region.","id":"HP:0030670","name":"Hamartoma of the orbital region","obsolete":false,"parents":["HP:0000315","HP:0010566"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also known as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles.","id":"HP:0030671","name":"Abnormal common tendinous ring morphology","obsolete":false,"parents":["HP:0030669"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the common tendinous ring"}]} +{"alt_ids":[],"definition":"The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits.","id":"HP:0030672","name":"Asteroid hyalosis","obsolete":false,"parents":["HP:0004327"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels.","id":"HP:0030673","name":"Erosive vitreoretinopathy","obsolete":false,"parents":["HP:0007773"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Onset prior to birth.","id":"HP:0030674","name":"Antenatal onset","obsolete":false,"parents":["HP:0003674"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intrauterine onset"},{"scope":"EXACT","text":"Onset in utero"},{"scope":"EXACT","text":"Prenatal onset"}]} +{"alt_ids":[],"definition":"Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue.","id":"HP:0030675","name":"Contracture of proximal interphalangeal joints of 2nd-5th fingers","obsolete":false,"parents":["HP:0001215"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Sharp pointed superior portion of the ear, with variable overfolding of the helix.","id":"HP:0030676","name":"Satyr ear","obsolete":false,"parents":["HP:0000377"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Devil ear"}]} +{"alt_ids":[],"definition":"A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus.","id":"HP:0030677","name":"Mozart ear","obsolete":false,"parents":["HP:0000377"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A hypopigmented spot in the shape of a leaf from the mountain ash tree.","id":"HP:0030679","name":"Ash-leaf spot","obsolete":false,"parents":["HP:0009719"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001632","HP:0002564","HP:0002565"],"definition":"Any structural anomaly of the heart and blood vessels.","id":"HP:0030680","name":"Abnormal cardiovascular system morphology","obsolete":false,"parents":["HP:0001626"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of cardiovascular system morphology"},{"scope":"EXACT","text":"Cardiovascular malformations"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae).","id":"HP:0030681","name":"Abnormal morphology of myocardial trabeculae","obsolete":false,"parents":["HP:0001637"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer.","id":"HP:0030682","name":"Left ventricular noncompaction","obsolete":false,"parents":["HP:0031192"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Repeated symptomatic episodes of inflammation of the vagina that can result from a spectrum of conditions that cause vaginal and sometimes vulvar symptoms, such as itching, burning, irritation, odor, and vaginal discharge.","id":"HP:0030683","name":"Recurrent bacterial vaginosis","obsolete":false,"parents":["HP:0000142","HP:0012649"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vaginitis"},{"scope":"RELATED","text":"Vulvovaginitis"}]} +{"alt_ids":[],"definition":"A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism.","id":"HP:0030684","name":"Abnormal adiponectin level","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.","id":"HP:0030685","name":"Decreased adiponectin level","obsolete":false,"parents":["HP:0030684"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.","id":"HP:0030686","name":"Increased adiponectin level","obsolete":false,"parents":["HP:0030684"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal concentration of glucagon in the blood circulation.","id":"HP:0030687","name":"Abnormal circulating glucagon concentration","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal glucagon level"}]} +{"alt_ids":[],"definition":"An elevated concentration of glucagon in the blood circulation.","id":"HP:0030688","name":"Increased glucagon level","obsolete":false,"parents":["HP:0030687"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced concentration of glucagon in the blood circulation.","id":"HP:0030689","name":"Decreased glucagon level","obsolete":false,"parents":["HP:0030687"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla.","id":"HP:0030690","name":"Gingival cleft","obsolete":false,"parents":["HP:0000168"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A condition in which both eyes beat outward simultaneously.","id":"HP:0030691","name":"Divergence nystagmus","obsolete":false,"parents":["HP:0000639"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign or malignant neoplasm that arises from or metastasizes to the brain.","id":"HP:0030692","name":"Brain neoplasm","obsolete":false,"parents":["HP:0012443","HP:0100006"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brain tumor"},{"scope":"EXACT","text":"Brain tumour"}]} +{"alt_ids":[],"definition":"A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli.","id":"HP:0030693","name":"Supratentorial neoplasm","obsolete":false,"parents":["HP:0030692"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pineal parenchymal tumor"},{"scope":"EXACT","text":"Pineal parenchymal tumour"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030694","name":"Pineal parenchymal cell neoplasm","obsolete":false,"parents":["HP:0010799"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location.","id":"HP:0030706","name":"Ranula","obsolete":false,"parents":["HP:0010286"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sublingual cyst"},{"scope":"EXACT","text":"Sublingual ptyalocele"}]} +{"alt_ids":[],"definition":"Lack of development of one lung.","id":"HP:0030707","name":"Unilateral lung agenesis","obsolete":false,"parents":["HP:0006703"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unilateral pulmonary agenesis"}]} +{"alt_ids":[],"definition":"The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane.","id":"HP:0030708","name":"Myeloschisis","obsolete":false,"parents":["HP:0010301","HP:0034237"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst.","id":"HP:0030709","name":"Myelocystocele","obsolete":false,"parents":["HP:0002196"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life.","id":"HP:0030710","name":"Lipomeningocele","obsolete":false,"parents":["HP:0002435"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction.","id":"HP:0030711","name":"Hydrocolpos","obsolete":false,"parents":["HP:0000142"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Adhesions or scar tissue that form inside the cavity of the uterus.","id":"HP:0030712","name":"Uterine synechiae","obsolete":false,"parents":["HP:0031105"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Asherman syndrome"}]} +{"alt_ids":[],"definition":"Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads to progressive dilation of the vein and prevents its involution and subsequent development into the vein of Galen.","id":"HP:0030713","name":"Vein of Galen aneurysmal malformation","obsolete":false,"parents":["HP:0012480"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Median prosencephalic arteriovenous fistula"},{"scope":"EXACT","text":"Vein of Galen aneurysm"},{"scope":"EXACT","text":"Vein of Galen malformation"}]} +{"alt_ids":[],"definition":"A large maternal clot that separates the chorionic plate from the villous chorion.","id":"HP:0030714","name":"Subchorionic thrombohematoma","obsolete":false,"parents":["HP:0100767"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Breus' mole"}]} +{"alt_ids":[],"definition":"A developmental anomaly characterized by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis.","id":"HP:0030715","name":"Bronchial atresia","obsolete":false,"parents":["HP:0025426"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital bronchial atresia"}]} +{"alt_ids":[],"definition":"Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly.","id":"HP:0030716","name":"Acrania","obsolete":false,"parents":["HP:0002683"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications.","id":"HP:0030717","name":"Meconium peritonitis","obsolete":false,"parents":["HP:0002586"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increase in size of the right atrium.","id":"HP:0030718","name":"Right atrial enlargement","obsolete":false,"parents":["HP:0025580"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dilated right atrium"},{"scope":"EXACT","text":"Enlarged heart right atrium"},{"scope":"EXACT","text":"Right atrial dilatation"}]} +{"alt_ids":[],"definition":"A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue.","id":"HP:0030719","name":"Unguarded tricuspid valve","obsolete":false,"parents":["HP:0011662"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rudimentary tricuspid valve leaflets"},{"scope":"EXACT","text":"Unguarded tricuspid valve orifice"}]} +{"alt_ids":[],"definition":"Cyst on the surface of the placenta consisting of amnion and chorion.","id":"HP:0030720","name":"Subchorionic septal cyst","obsolete":false,"parents":["HP:0100767"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Phocomelia involving all four extremities.","id":"HP:0030721","name":"Tetraphocomelia","obsolete":false,"parents":["HP:0009829"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter.","id":"HP:0030722","name":"Ectopic liver","obsolete":false,"parents":["HP:0410042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa.","id":"HP:0030723","name":"Congenital megalourethra","obsolete":false,"parents":["HP:0000795"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A fluid-filled sac (cyst) located within the central nervous system.","id":"HP:0030724","name":"Central nervous system cyst","obsolete":false,"parents":["HP:0002011"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CNS cyst"},{"scope":"EXACT","text":"Cyst of the central nervous system"}]} +{"alt_ids":[],"definition":"The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium.","id":"HP:0030725","name":"Neurenteric cyst","obsolete":false,"parents":["HP:0030724"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A neurenteric cyst located in the spine.","id":"HP:0030726","name":"Spinal neurenteric cyst","obsolete":false,"parents":["HP:0030725"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A neurenteric cyst located within the skull.","id":"HP:0030727","name":"Intracranial neurenteric cyst","obsolete":false,"parents":["HP:0030725"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot.","id":"HP:0030728","name":"Meromelia","obsolete":false,"parents":["HP:0009826"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones.","id":"HP:0030729","name":"Frontoethmoidal meningocele","obsolete":false,"parents":["HP:0002435"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Frontoethmoid meningocele"}]} +{"alt_ids":[],"definition":"A herniation of meninges through a congenital bone defect in the skull in the parietal region.","id":"HP:0030730","name":"Parietal meningocele","obsolete":false,"parents":["HP:0002435"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus).","id":"HP:0030731","name":"Carcinoma","obsolete":false,"parents":["HP:0031492"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital malformation of the tricuspid valve characterized by leaflet deformation.","id":"HP:0030732","name":"Dysplastic tricuspid valve","obsolete":false,"parents":["HP:0001702"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tricuspid valve dysplasia"}]} +{"alt_ids":[],"definition":"An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst.","id":"HP:0030733","name":"Vesicoallantoic abdominal wall defect","obsolete":false,"parents":["HP:0010478"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle.","id":"HP:0030735","name":"Ureterovesical junction obstruction","obsolete":false,"parents":["HP:0006000"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A teratoma arising in the sacro-coccygeal region.","id":"HP:0030736","name":"Sacrococcygeal teratoma","obsolete":false,"parents":["HP:0005107","HP:0009792"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks.","id":"HP:0030737","name":"Altman type I sacrococcygeal teratoma","obsolete":false,"parents":["HP:0030736"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component.","id":"HP:0030738","name":"Altman type II sacrococcygeal teratoma","obsolete":false,"parents":["HP:0030736"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass.","id":"HP:0030739","name":"Altman type III sacrococcygeal teratoma","obsolete":false,"parents":["HP:0030736"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract.","id":"HP:0030740","name":"Anomalous muscle bundle of the right ventricle","obsolete":false,"parents":["HP:0001707"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Right ventricular anomalous muscle bundle"}]} +{"alt_ids":[],"definition":"A teratoma located within the mediastinum (the cavity between the pleural sacs that contains the heart and all of the thoracic viscera except the lungs).","id":"HP:0030741","name":"Mediastinal teratoma","obsolete":false,"parents":["HP:0009792"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Teratoma of the mediastinum"}]} +{"alt_ids":[],"definition":"This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot.","id":"HP:0030742","name":"Glial remnants posterior to lens","obsolete":false,"parents":["HP:0007968"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mittendorf dot"}]} +{"alt_ids":[],"definition":"Persistence of a posterior remnant of the hyaloid artery located at the optic disc.","id":"HP:0030743","name":"Glial remnants anterior to the optic disc","obsolete":false,"parents":["HP:0007968"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bergmeister papilla"}]} +{"alt_ids":[],"definition":"A type of persistence of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract.","id":"HP:0030744","name":"Hyaloid vascular remnant and retrolental mass","obsolete":false,"parents":["HP:0007968"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Ductus arteriosus aneurysm (DAA) is a saccular dilatation of the ductus arteriosus. DAA can be either congenital or acquired (e.g. as a complication of surgical closure of a patent ductus arteriosus). Although the majority of patients with congenital DAA are asymptomatic and have a benign course, severe complications, such as rupture or thromboembolism, can occur. DAA is likely to emerge in the third trimester from the aortic junction of the DA, extending towards its pulmonary end.","id":"HP:0030745","name":"Dilatation of the ductus arteriosus","obsolete":false,"parents":["HP:0002617","HP:0011603"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aneurysm of the ductus arteriosus"},{"scope":"NARROW","text":"Congenital ductus arteriosus aneurysm"},{"scope":"NARROW","text":"Ductus arteriosus aneurysm"}]} +{"alt_ids":[],"definition":"Bleeding into the ventricles of the brain.","id":"HP:0030746","name":"Intraventricular hemorrhage","obsolete":false,"parents":["HP:0002170"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intraventricular haemorrhage"}]} +{"alt_ids":[],"definition":"Intraventricular hemorrhage that occurs in a premature infant.","id":"HP:0030747","name":"Preterm intraventricular hemorrhage","obsolete":false,"parents":["HP:0030746"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Preterm intraventricular haemorrhage"}]} +{"alt_ids":[],"definition":"Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove.","id":"HP:0030748","name":"Grade I preterm intraventricular hemorrhage","obsolete":false,"parents":["HP:0030747"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Germinal matrix haemorrhage"},{"scope":"EXACT","text":"Germinal matrix hemorrhage"},{"scope":"EXACT","text":"Grade I preterm intraventricular haemorrhage"}]} +{"alt_ids":[],"definition":"Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle.","id":"HP:0030749","name":"Grade II preterm intraventricular hemorrhage","obsolete":false,"parents":["HP:0030747"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Grade II preterm intraventricular haemorrhage"}]} +{"alt_ids":[],"definition":"Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles.","id":"HP:0030750","name":"Grade III preterm intraventricular hemorrhage","obsolete":false,"parents":["HP:0030747"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Grade III preterm intraventricular haemorrhage"}]} +{"alt_ids":[],"definition":"Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension.","id":"HP:0030751","name":"Grade IV preterm intraventricular hemorrhage","obsolete":false,"parents":["HP:0030747"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Grade IV preterm intraventricular haemorrhage"}]} +{"alt_ids":[],"definition":"A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve.","id":"HP:0030752","name":"Dacryocystocele","obsolete":false,"parents":["HP:0000579"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Timo cyst"}]} +{"alt_ids":[],"definition":"Loss of one twin occurring after midgestation (17 weeks gestation).","id":"HP:0030753","name":"Intrauterine fetal demise of one twin after midgestation","obsolete":false,"parents":["HP:0034059"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intrauterine foetal demise of one twin after midgestation"},{"scope":"RELATED","text":"Single-twin demise"}]} +{"alt_ids":[],"definition":"A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly.","id":"HP:0030754","name":"Allantoic cyst","obsolete":false,"parents":["HP:0010478"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A teratoma located in the craniofacial region.","id":"HP:0030755","name":"Craniofacial teratoma","obsolete":false,"parents":["HP:0009792"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reddish, brown opalescent discoloration of teeth in normal light.","id":"HP:0030756","name":"Erythrodontia","obsolete":false,"parents":["HP:0011073"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Red teeth"}]} +{"alt_ids":[],"definition":"A pocket of pus located within a region of a tooth.","id":"HP:0030757","name":"Tooth abscess","obsolete":false,"parents":["HP:0011061","HP:0025615"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dental abscess"},{"scope":"EXACT","text":"Dentoalveolar abscess"}]} +{"alt_ids":[],"definition":"A tooth abscess that occurs at the tip of the root (apex) of a tooth.","id":"HP:0030758","name":"Periapical tooth abscess","obsolete":false,"parents":["HP:0030757"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy.","id":"HP:0030759","name":"Adipocyte hypertrophy","obsolete":false,"parents":["HP:0009124"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fat cell hypertrophy"}]} +{"alt_ids":[],"definition":"Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease.","id":"HP:0030760","name":"Renal fibrosis","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Kidney fibrosis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030761","name":"obsolete Renal glomerular fibrosis","obsolete":true,"parents":[],"replaced_by":["HP:0000096"],"synonyms":[]} +{"alt_ids":[],"definition":"Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain.","id":"HP:0030762","name":"Mesangiolysis","obsolete":false,"parents":["HP:0033232"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion.","id":"HP:0030763","name":"Amniotic Sheet","obsolete":false,"parents":["HP:0011409"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Amniotic shelf"}]} +{"alt_ids":[],"definition":"Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved.","id":"HP:0030764","name":"Ochronosis","obsolete":false,"parents":["HP:0011121"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ochronotic arthritis"}]} +{"alt_ids":[],"definition":"Autonomic arousal, screaming, sweating, crying, outbursts during sleep, usually no recollection at the individual level; typically observed by others.","id":"HP:0030765","name":"Sleep terror","obsolete":false,"parents":["HP:0025184","HP:0025235"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Night terror"},{"scope":"EXACT","text":"Pavor nocturnus"},{"scope":"EXACT","text":"Sleep terrors"},{"scope":"EXACT","text":"Waking up screaming"}]} +{"alt_ids":[],"definition":"Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia).","id":"HP:0030766","name":"Ear pain","obsolete":false,"parents":["HP:0031704","HP:0046506"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ear pain"},{"scope":"EXACT","text":"Otalgia"},{"scope":"EXACT","text":"Pain in the ear"}]} +{"alt_ids":[],"definition":"Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate.","id":"HP:0030767","name":"Epignathus","obsolete":false,"parents":["HP:0009792","HP:0100649"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Palatine teratoma"}]} +{"alt_ids":[],"definition":"A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium.","id":"HP:0030769","name":"Exencephaly","obsolete":false,"parents":["HP:0034237"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A neural tube defect in which both the brain and spinal cord remain open to varying degrees.","id":"HP:0030770","name":"Craniorachischisis","obsolete":false,"parents":["HP:0034237"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own.","id":"HP:0030771","name":"Mallet finger","obsolete":false,"parents":["HP:0001167"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb.","id":"HP:0030772","name":"Proximal femoral focal deficiency","obsolete":false,"parents":["HP:0005613"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule.","id":"HP:0030773","name":"Internuclear ophthalmoplegia","obsolete":false,"parents":["HP:0000602"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures.","id":"HP:0030774","name":"Mitochondrial swelling","obsolete":false,"parents":["HP:0012087"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic.","id":"HP:0030775","name":"Modic type vertebral endplate changes","obsolete":false,"parents":["HP:0003468"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation.","id":"HP:0030776","name":"Modic type I vertebral endplate changes","obsolete":false,"parents":["HP:0030775"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Modic type 1 vertebral endplate changes"}]} +{"alt_ids":[],"definition":"An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow.","id":"HP:0030777","name":"Modic type II vertebral endplate changes","obsolete":false,"parents":["HP:0030775"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Modic type 2 vertebral endplate changes"}]} +{"alt_ids":[],"definition":"An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modic type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs.","id":"HP:0030778","name":"Modic type III vertebral endplate changes","obsolete":false,"parents":["HP:0030775"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Modic type 3 vertebral endplate changes"}]} +{"alt_ids":[],"definition":"Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears.","id":"HP:0030779","name":"Ethmocephaly","obsolete":false,"parents":["HP:0001360"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC.","id":"HP:0030780","name":"Abnormality of the protein C anticoagulant pathway","obsolete":false,"parents":["HP:0003256"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues.","id":"HP:0030781","name":"Increased circulating free fatty acid level","obsolete":false,"parents":["HP:0040300"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030782","name":"obsolete Abnormal circulating interleukin concentration","obsolete":true,"parents":[],"replaced_by":["HP:0011117"],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of interleukin-6 in the blood circulation is above the upper limit of normal.","id":"HP:0030783","name":"Increased circulating interleukin 6 concentration","obsolete":false,"parents":["HP:6000441"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased serum IL-6"},{"scope":"EXACT","text":"Increased serum interleukin-6"}]} +{"alt_ids":[],"definition":"An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name.","id":"HP:0030784","name":"Anomic aphasia","obsolete":false,"parents":["HP:0002381"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Amnesic aphasia"},{"scope":"EXACT","text":"Amnestic aphasia"},{"scope":"EXACT","text":"Anomia"},{"scope":"EXACT","text":"Nominal aphasia"},{"scope":"EXACT","text":"Word-finding difficulty"}]} +{"alt_ids":[],"definition":"A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors.","id":"HP:0030785","name":"Mediastinal cystic lymphangioma","obsolete":false,"parents":["HP:0100764"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intrathoracic cystic hygroma"},{"scope":"EXACT","text":"Thoracic cystic lymphangioma"}]} +{"alt_ids":[],"definition":"Perceived flashes of light.","id":"HP:0030786","name":"Photopsia","obsolete":false,"parents":["HP:0000504"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal.","id":"HP:0030787","name":"Cerumen abnormality","obsolete":false,"parents":["HP:0000372"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Blockage of the external auditory canal by a buildup of earwax.","id":"HP:0030788","name":"Impacted cerumen","obsolete":false,"parents":["HP:0030787"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased quantity of earwax.","id":"HP:0030789","name":"Excessive cerumen","obsolete":false,"parents":["HP:0030787"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomalous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color.","id":"HP:0030790","name":"Abnormal cerumen color","obsolete":false,"parents":["HP:0030787"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal cerumen pigmentation"}]} +{"alt_ids":[],"definition":"A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla.","id":"HP:0030791","name":"Abnormal jaw morphology","obsolete":false,"parents":["HP:0011821"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tumor originating in the jaw (mandible or maxilla).","id":"HP:0030792","name":"Jaw neoplasm","obsolete":false,"parents":["HP:0012289","HP:0030791"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible).","id":"HP:0030793","name":"Jaw swelling","obsolete":false,"parents":["HP:0030791"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of C-peptide in the blood circulation.","id":"HP:0030794","name":"Abnormal circulating C-peptide concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal C peptide level"},{"scope":"EXACT","text":"Abnormal C-peptide level"}]} +{"alt_ids":[],"definition":"The concentration of C-peptide in the blood circulation is below the lower limit of normal.","id":"HP:0030795","name":"Decreased circulating C-peptide concentration","obsolete":false,"parents":["HP:0030794"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased C-peptide concentration"},{"scope":"EXACT","text":"Decreased C-peptide level"},{"scope":"EXACT","text":"Decreased C-peptide level in blood"},{"scope":"EXACT","text":"Reduced C peptide level"},{"scope":"EXACT","text":"Reduced C-peptide concentration"},{"scope":"EXACT","text":"Reduced C-peptide level"},{"scope":"EXACT","text":"Reduced C-peptide level in blood"}]} +{"alt_ids":[],"definition":"The concentration of C-peptide in the blood circulation is above the upper limit of normal.","id":"HP:0030796","name":"Elevated circulating C-peptide concentration","obsolete":false,"parents":["HP:0030794"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated C-peptide concentration"},{"scope":"EXACT","text":"Elevated C-peptide level"},{"scope":"EXACT","text":"Elevated C-peptide level in blood"},{"scope":"EXACT","text":"Increased C peptide level"},{"scope":"EXACT","text":"Increased C-peptide concentration"},{"scope":"EXACT","text":"Increased C-peptide level"},{"scope":"EXACT","text":"Increased C-peptide level in blood"}]} +{"alt_ids":[],"definition":"A diminished volume of the central part of the bed nucleus of the stria terminalis.","id":"HP:0030797","name":"Reduced volume of central subdivision of bed nucleus of stria terminalis","obsolete":false,"parents":["HP:0030798"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus.","id":"HP:0030798","name":"Abnormality of the bed nucleus of stria terminalis","obsolete":false,"parents":["HP:0002500"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.","id":"HP:0030799","name":"Scaphocephaly","obsolete":false,"parents":["HP:0000268"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power.","id":"HP:0030800","name":"Abnormal visual accommodation","obsolete":false,"parents":["HP:0012373"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances.","id":"HP:0030801","name":"Reduced visual accommodation","obsolete":false,"parents":["HP:0030800"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inferior malposition of the lower eyelid margin without eyelid eversion.","id":"HP:0030802","name":"Lower eyelid retraction","obsolete":false,"parents":["HP:0500043"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal flat nail.","id":"HP:0030803","name":"Platonychia","obsolete":false,"parents":["HP:0002164"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix.","id":"HP:0030804","name":"Trachyonychia","obsolete":false,"parents":["HP:0002164"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail.","id":"HP:0030805","name":"Absent lunula","obsolete":false,"parents":["HP:0001597"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent lunulae"},{"scope":"EXACT","text":"Lunula absent"},{"scope":"EXACT","text":"Lunulae absent"}]} +{"alt_ids":[],"definition":"Nails whose growth is quicker than normal.","id":"HP:0030806","name":"Fast-growing nails","obsolete":false,"parents":["HP:0030807"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Nail whose growth pattern or speed deviates from normal.","id":"HP:0030807","name":"Abnormal nail growth","obsolete":false,"parents":["HP:0001597"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle.","id":"HP:0030808","name":"Ragged cuticle","obsolete":false,"parents":["HP:0025755"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the tongue.","id":"HP:0030809","name":"Abnormal tongue morphology","obsolete":false,"parents":["HP:0000157","HP:0000163"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any functional anomaly of the tongue.","id":"HP:0030810","name":"Abnormal tongue physiology","obsolete":false,"parents":["HP:0000157","HP:0031815"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue.","id":"HP:0030811","name":"Tongue pain","obsolete":false,"parents":["HP:0030810","HP:0046506"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Painful tongue"}]} +{"alt_ids":[],"definition":"Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat.","id":"HP:0030812","name":"Enlarged tonsils","obsolete":false,"parents":["HP:0100765"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlargement of tonsils"},{"scope":"EXACT","text":"Tonsillar hypertrophy"},{"scope":"EXACT","text":"tonsils large/hypertrophy"}]} +{"alt_ids":[],"definition":"Lack of observable tonsillar tissue.","id":"HP:0030813","name":"Absent tonsils","obsolete":false,"parents":["HP:0100765"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic tonsils"},{"scope":"EXACT","text":"Tonsillar hypoplasia"}]} +{"alt_ids":[],"definition":"A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903.","id":"HP:0030814","name":"Orange discolored tonsils","obsolete":false,"parents":["HP:0100765"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Orange colored tonsils"},{"scope":"EXACT","text":"Orange coloured tonsils"},{"scope":"EXACT","text":"Orange discoloured tonsils"},{"scope":"EXACT","text":"Orange tonsils"},{"scope":"EXACT","text":"Tonsils with orange deposits"}]} +{"alt_ids":[],"definition":"A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue.","id":"HP:0030815","name":"Lipoma of the tongue","obsolete":false,"parents":["HP:0012032","HP:0100648"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tongue lipoma"}]} +{"alt_ids":[],"definition":"The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth.","id":"HP:0030816","name":"Gingival recession","obsolete":false,"parents":["HP:0000168"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gum recession"},{"scope":"EXACT","text":"Receding gums"}]} +{"alt_ids":[],"definition":"Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit.","id":"HP:0030817","name":"Beaked nails","obsolete":false,"parents":["HP:0025755"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a depressed line (canal) in the center of the nail.","id":"HP:0030818","name":"Central nail canal","obsolete":false,"parents":["HP:0008404"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Median nail dystrophy"}]} +{"alt_ids":[],"definition":"Nails that slope upward at the free edge.","id":"HP:0030819","name":"Ski jump nail","obsolete":false,"parents":["HP:0025755"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Upslanting nail"},{"scope":"EXACT","text":"Upward angulation of nail"}]} +{"alt_ids":[],"definition":"Eyelid partly covered by skin when eyes are open.","id":"HP:0030820","name":"Hooded eyelid","obsolete":false,"parents":["HP:0000492"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lower eyelid partly covered by skin when eyes are open.","id":"HP:0030821","name":"Hooded lower eyelid","obsolete":false,"parents":["HP:0030820"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Upper eyelid partly covered by skin when eyes are open.","id":"HP:0030822","name":"Hooded upper eyelid","obsolete":false,"parents":["HP:0030820"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased dimension of the sclera in the anterior-posterior axis.","id":"HP:0030823","name":"Scleral thickening","obsolete":false,"parents":["HP:0000591"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thick sclera"}]} +{"alt_ids":[],"definition":"Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14].","id":"HP:0030824","name":"Mizuo phenomenon","obsolete":false,"parents":["HP:0001098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mizuo-Nakamura phenomenon"}]} +{"alt_ids":[],"definition":"Absent reflectivity of the fovea, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.","id":"HP:0030825","name":"Absent foveal reflex","obsolete":false,"parents":["HP:0000493"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foveal reflex absent"},{"scope":"EXACT","text":"Loss of foveal reflex"}]} +{"alt_ids":[],"definition":"Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching.","id":"HP:0030826","name":"Eyelid fasciculation","obsolete":false,"parents":["HP:0031785"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eyelid fluttering"},{"scope":"EXACT","text":"Fasciculation of the eyelid"},{"scope":"EXACT","text":"Muscle twitches in eye lid"},{"scope":"EXACT","text":"Muscle twitches in eyelid"},{"scope":"EXACT","text":"Twitching around eyes"}]} +{"alt_ids":[],"definition":"A high-pitched whistling sound associated with labored breathing.","id":"HP:0030828","name":"Wheezing","obsolete":false,"parents":["HP:0030829"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wheezing"}]} +{"alt_ids":[],"definition":"An anomalous (adventitious) sound produced by the breathing process.","id":"HP:0030829","name":"Abnormal breath sound","obsolete":false,"parents":["HP:0002795"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal lung auscultation finding"}]} +{"alt_ids":[],"definition":"Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position.","id":"HP:0030830","name":"Crackles","obsolete":false,"parents":["HP:0030829"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Crepitations"},{"scope":"EXACT","text":"Rales"}]} +{"alt_ids":[],"definition":"Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds.","id":"HP:0030831","name":"Rhonchi","obsolete":false,"parents":["HP:0030829"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fiber- or rope-like opacities located within the vitreous humor.","id":"HP:0030832","name":"Vitreous strands","obsolete":false,"parents":["HP:0100832"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck.","id":"HP:0030833","name":"Neck pain","obsolete":false,"parents":["HP:0046506"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neck pain"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder.","id":"HP:0030834","name":"Shoulder pain","obsolete":false,"parents":["HP:0012531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Shoulder pain"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow.","id":"HP:0030835","name":"Elbow pain","obsolete":false,"parents":["HP:0012513"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elbow pain"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist.","id":"HP:0030836","name":"Wrist pain","obsolete":false,"parents":["HP:0012513"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wrist pain"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger.","id":"HP:0030837","name":"Finger pain","obsolete":false,"parents":["HP:0046505"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Finger pain"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip.","id":"HP:0030838","name":"Hip pain","obsolete":false,"parents":["HP:0012531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hip pain"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.","id":"HP:0030839","name":"Knee pain","obsolete":false,"parents":["HP:0012514"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Knee pain"},{"scope":"BROAD","text":"Pain under knee cap"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle.","id":"HP:0030840","name":"Ankle pain","obsolete":false,"parents":["HP:0012514"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ankle pain"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe.","id":"HP:0030841","name":"Toe pain","obsolete":false,"parents":["HP:0012514"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Toe pain"}]} +{"alt_ids":[],"definition":"Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing.","id":"HP:0030842","name":"Choking episodes","obsolete":false,"parents":["HP:0100738"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0200126"],"definition":"Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.","id":"HP:0030843","name":"Cardiac amyloidosis","obsolete":false,"parents":["HP:0001637","HP:0020015"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Amyloid cardiomyopathy"}]} +{"alt_ids":[],"definition":"Absent response to a pattern electroretinogram (PERG).","id":"HP:0030844","name":"Undetectable pattern electroretinogram","obsolete":false,"parents":["HP:0030467"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema.","id":"HP:0030845","name":"Heliotrope rash of eyelid","obsolete":false,"parents":["HP:0000492","HP:0040324"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of venous function.","id":"HP:0030846","name":"Abnormality of venous physiology","obsolete":false,"parents":["HP:0030163"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure.","id":"HP:0030847","name":"Abnormal jugular venous pressure","obsolete":false,"parents":["HP:0030846"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased jugular venous pressure.","id":"HP:0030848","name":"Elevated jugular venous pressure","obsolete":false,"parents":["HP:0030847"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux.","id":"HP:0030849","name":"Hepatojugular reflux","obsolete":false,"parents":["HP:0030847"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure.","id":"HP:0030850","name":"Abnormal pulse pressure","obsolete":false,"parents":["HP:0030163"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).","id":"HP:0030851","name":"Low pulse pressure","obsolete":false,"parents":["HP:0030850"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).","id":"HP:0030852","name":"High pulse pressure","obsolete":false,"parents":["HP:0030850"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body.","id":"HP:0030853","name":"Heterotaxy","obsolete":false,"parents":["HP:0001507"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Heterotaxia"}]} +{"alt_ids":[],"definition":"A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.","id":"HP:0030854","name":"Scleral staphyloma","obsolete":false,"parents":["HP:0000591"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Staphyloma"}]} +{"alt_ids":[],"definition":"A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.","id":"HP:0030855","name":"Anterior staphyloma","obsolete":false,"parents":["HP:0030854"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.","id":"HP:0030856","name":"Posterior staphyloma","obsolete":false,"parents":["HP:0030854"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding.","id":"HP:0030857","name":"Eye movement-induced pain","obsolete":false,"parents":["HP:0200026"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"When an activity, substance, object, or behavior becomes a major focus of a person's life, excluding other activities, or has begun to harm the individual or others physically, mentally, or socially, it can be considered addictive behavior. A person can become addicted or compulsively engaged with anything.","id":"HP:0030858","name":"Addictive behavior","obsolete":false,"parents":["HP:5200241"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Addictive behaviour"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I.","id":"HP:0030859","name":"Anti-topoisomerase I antibody positivity","obsolete":false,"parents":["HP:0033476"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-Scl-70 antibody positivity"},{"scope":"EXACT","text":"Anti-Scl70 antibody positivity"},{"scope":"EXACT","text":"Top1 antibody positivity"},{"scope":"EXACT","text":"Topoisomerase (DNA) I antibody positivity"}]} +{"alt_ids":[],"definition":"Abnormal concentration of amyloid in the cerebrospinal fluid (CSF).","id":"HP:0030860","name":"Abnormal CSF amyloid concentration","obsolete":false,"parents":["HP:0025456"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal CSF A[beta]42 level"},{"scope":"EXACT","text":"Abnormal CSF amyloid level"}]} +{"alt_ids":[],"definition":"Reduced concentration of amyloid in the cerebrospinal fluid (CSF).","id":"HP:0030861","name":"Decreased CSF amyloid concentration","obsolete":false,"parents":["HP:0030860"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased CSF amyloid level"}]} +{"alt_ids":[],"definition":"Increased concentration of amyloid in the cerebrospinal fluid (CSF).","id":"HP:0030862","name":"Elevated CSF amyloid concentration","obsolete":false,"parents":["HP:0030860"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated CSF amyloid level"}]} +{"alt_ids":[],"definition":"Widening of the nostrils upon inhalation as a manifestation of respiratory distress.","id":"HP:0030863","name":"Nasal flaring","obsolete":false,"parents":["HP:0002098"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress.","id":"HP:0030864","name":"Intercostal retractions","obsolete":false,"parents":["HP:0002098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chest retractions"}]} +{"alt_ids":[],"definition":"Abnormal increased size of the elbow joint.","id":"HP:0030865","name":"Large elbow","obsolete":false,"parents":["HP:0020300"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prominent elbow"}]} +{"alt_ids":[],"definition":"Abnormally increased size of the knee joint.","id":"HP:0030866","name":"Large knee","obsolete":false,"parents":["HP:0034669"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other.","id":"HP:0030867","name":"Vertical orbital dystopia","obsolete":false,"parents":["HP:0100886"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eyes at different heights"},{"scope":"EXACT","text":"Misaligned eyes"},{"scope":"EXACT","text":"Unequal eye height"}]} +{"alt_ids":[],"definition":"Having only one testis in the scrotum.","id":"HP:0030868","name":"Monorchism","obsolete":false,"parents":["HP:0000035"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Monorchidism"}]} +{"alt_ids":[],"definition":"An abnormality of XY sexual development characterized by the absence of both testes at birth.","id":"HP:0030869","name":"Anorchism","obsolete":false,"parents":["HP:0000035"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the small joints located between and behind adjacent vertebrae.","id":"HP:0030870","name":"Abnormality of spinal facet joint","obsolete":false,"parents":["HP:0003312"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of Z-joint"},{"scope":"EXACT","text":"Abnormality of apophyseal joint"},{"scope":"EXACT","text":"Abnormality of zygapophyseal joint"},{"scope":"EXACT","text":"Abnormality of zygapophysial joint"}]} +{"alt_ids":[],"definition":"Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray.","id":"HP:0030871","name":"Facet joint arthrosis","obsolete":false,"parents":["HP:0030870"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Facet arthritis"}]} +{"alt_ids":[],"definition":"An abnormality of the cardiac ventricular function.","id":"HP:0030872","name":"Abnormal cardiac ventricular function","obsolete":false,"parents":["HP:0011025"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the centromeres or centromere components.","id":"HP:0030873","name":"Anti-centromere antibody positivity","obsolete":false,"parents":["HP:0003493"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ACA positivity"},{"scope":"EXACT","text":"Anticentromere antibody positivity"}]} +{"alt_ids":[],"definition":"Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa.","id":"HP:0030874","name":"Oxygen desaturation on exertion","obsolete":false,"parents":["HP:0012418"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"O2 desaturation on exertion"}]} +{"alt_ids":[],"definition":"A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart.","id":"HP:0030875","name":"Abnormality of pulmonary circulation","obsolete":false,"parents":["HP:0002795","HP:0030163"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal pulmonary circulation"},{"scope":"EXACT","text":"Abnormality of respiratory circulation"}]} +{"alt_ids":[],"definition":"Pulmonary capillary wedge pressure (PCWP) above 15mmHg.","id":"HP:0030876","name":"Increased pulmonary capillary wedge pressure","obsolete":false,"parents":["HP:0030875"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased pulmonary arterial wedge pressure"},{"scope":"EXACT","text":"Increased pulmonary artery occlusion pressure"}]} +{"alt_ids":[],"definition":"Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).","id":"HP:0030877","name":"Reduced FEV1/FVC ratio","obsolete":false,"parents":["HP:0006536","HP:0030878"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Obstructive deficit on pulmonary function test"},{"scope":"EXACT","text":"Obstructive deficit on pulmonary function testing"}]} +{"alt_ids":["HP:0032340"],"definition":"Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography.","id":"HP:0030878","name":"Abnormality on pulmonary function testing","obsolete":false,"parents":["HP:0002795"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal pulmonary function test"},{"scope":"RELATED","text":"Abnormal spirometry test"}]} +{"alt_ids":[],"definition":"Presence of thickening of the interlobular septa of the lungs as seen on a CT scan.","id":"HP:0030879","name":"Interlobular septal thickening","obsolete":false,"parents":["HP:0033711"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Interlobular lines (pulmonary CT finding)"},{"scope":"NARROW","text":"Interlobular septal thickening on pulmonary HRCT"},{"scope":"EXACT","text":"Peripheral lines (pulmonary CT finding)"},{"scope":"EXACT","text":"Septal lines (pulmonary CT finding)"},{"scope":"EXACT","text":"Septal thickening (pulmonary CT finding)"},{"scope":"EXACT","text":"Short lines (pumonary CT finding)"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030880","name":"Raynaud phenomenon","obsolete":false,"parents":["HP:0025323"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Raynaud disease"},{"scope":"EXACT","text":"Raynaud's phenomenon"}]} +{"alt_ids":[],"definition":"Trapping and compression of the rotator cuff tendons during shoulder movements.","id":"HP:0030881","name":"Shoulder impingement","obsolete":false,"parents":["HP:0033129"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel.","id":"HP:0030882","name":"Coronary artery aneurysm","obsolete":false,"parents":["HP:0002617","HP:0006704"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Coronary arterial dilatation"},{"scope":"EXACT","text":"Coronary artery dilatation"},{"scope":"BROAD","text":"Coronary artery ectasia"}]} +{"alt_ids":[],"definition":"Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis.","id":"HP:0030883","name":"Femoroacetabular impingement","obsolete":false,"parents":["HP:0001384"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Femoral acetabular impingement"}]} +{"alt_ids":[],"definition":"Feeding problem necessitating gastrojejunal tube feeding.","id":"HP:0030884","name":"Gastrojejunal tube feeding in infancy","obsolete":false,"parents":["HP:0008872","HP:0033454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gastro-jejunal tube feeding in infancy"}]} +{"alt_ids":[],"definition":"Increased susceptibility to parasitic infections as manifested by recurrent episodes of parasitic infection.","id":"HP:0030885","name":"Recurrent parasitic infections","obsolete":false,"parents":["HP:0002719","HP:0020108"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal apoptosis by peripheral blood T cells in an in vitro culture, compared to a healthy control sample. May be either spontaneous, induced by UV, X-ray, FasL or other agens. Commonly measured by surface expression of phosphatidyl serine labelled by Annexin V, but other methods such as staning of cleaved Caspases may be used by different laboratories.","id":"HP:0030886","name":"Abnormal T cell apoptosis","obsolete":false,"parents":["HP:0011840"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase of apoptosis by peripheral blood T cells in an in vitro culture, compared to a healthy control sample. May be either spontaneous, induced by UV, X-ray, FasL or other agens. Commonly measured by surface expression of phosphatidyl serine labelled by Annexin V, but other methods such as staning of cleaved Caspases may be used by different laboratories.","id":"HP:0030887","name":"Increased T cell apoptosis","obsolete":false,"parents":["HP:0030886"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb).","id":"HP:0030888","name":"C3 nephritic factor positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Substantially shortened length of the small intestine as a result of a developmental defect.","id":"HP:0030889","name":"Congenital shortened small intestine","obsolete":false,"parents":["HP:0002244"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Short bowel"}]} +{"alt_ids":[],"definition":"A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.","id":"HP:0030890","name":"Hyperintensity of cerebral white matter on MRI","obsolete":false,"parents":["HP:0002500"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"White matter hyperintensity"}]} +{"alt_ids":[],"definition":"Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.","id":"HP:0030891","name":"Periventricular white matter hyperintensities","obsolete":false,"parents":["HP:0002518","HP:0030890"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"PVWMH"}]} +{"alt_ids":[],"definition":"Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system.","id":"HP:0030892","name":"Deep cerebral white matter hyperintensities","obsolete":false,"parents":["HP:0030890"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"DWMH"}]} +{"alt_ids":[],"definition":"Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg.","id":"HP:0030893","name":"Abnormal response to short acting pulmonary vasodilator","obsolete":false,"parents":["HP:0030875"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide.","id":"HP:0030894","name":"Insufficient response to short acting pulmonary vasodilator","obsolete":false,"parents":["HP:0030893"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the muscular contractions that propel food though the gastrointestinal tract.","id":"HP:0030895","name":"Abnormal gastrointestinal motility","obsolete":false,"parents":["HP:0012719"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal GI motility"}]} +{"alt_ids":[],"definition":"A deviation from the normal amount of time required for food to pass through the intestines.","id":"HP:0030896","name":"Abnormal gastrointestinal transit time","obsolete":false,"parents":["HP:0030895"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal GI transit time"}]} +{"alt_ids":[],"definition":"A reduction in the length of time required for food to pass through the intestines.","id":"HP:0030897","name":"Decreased intestinal transit time","obsolete":false,"parents":["HP:0030896"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen.","id":"HP:0030898","name":"Pruritis on abdomen","obsolete":false,"parents":["HP:0000989"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand.","id":"HP:0030899","name":"Pruritis on hand","obsolete":false,"parents":["HP:0000989"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot.","id":"HP:0030900","name":"Pruritus on foot","obsolete":false,"parents":["HP:0000989"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Itchy feet"},{"scope":"EXACT","text":"Itchy foot"}]} +{"alt_ids":[],"definition":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast.","id":"HP:0030901","name":"Pruritis on breast","obsolete":false,"parents":["HP:0000989"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm.","id":"HP:0030902","name":"Palmomental reflex","obsolete":false,"parents":["HP:0002476"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395].","id":"HP:0030903","name":"Grasp reflex","obsolete":false,"parents":["HP:0002476"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Palmar grasp reflex"}]} +{"alt_ids":[],"definition":"A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign.","id":"HP:0030904","name":"Glabellar reflex","obsolete":false,"parents":["HP:0002476"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Myerson's sign"}]} +{"alt_ids":[],"definition":"A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout.","id":"HP:0030905","name":"Snout reflex","obsolete":false,"parents":["HP:0002476"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched.","id":"HP:0030906","name":"Suck reflex","obsolete":false,"parents":["HP:0002476"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Persistent nutritive suckle swallow"}]} +{"alt_ids":[],"definition":"Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days.","id":"HP:0030907","name":"Thunderclap headache","obsolete":false,"parents":["HP:0002315"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0034113"],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2).","id":"HP:0030908","name":"Liver kidney microsome type 1 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-LKM-1 positive"},{"scope":"EXACT","text":"Anti-LKM1 antibody positivity"},{"scope":"EXACT","text":"Anti-liver kidney microsomal type 1 antibody positivity"},{"scope":"EXACT","text":"Anti-type I liver-kidney microsomal antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction.","id":"HP:0030909","name":"Anti-liver cytosolic antigen type 1 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-liver cytosol antibody-1 positivity"}]} +{"alt_ids":[],"definition":"Two clitorides located side by side.","id":"HP:0030911","name":"Bifid clitoris","obsolete":false,"parents":["HP:0000056"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Supernumerary clitoris.","id":"HP:0030912","name":"Duplicated clitoris","obsolete":false,"parents":["HP:0000056"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Marked rugae formation of the skin of the labia majora.","id":"HP:0030913","name":"Exaggerated rugosity of the labia majora","obsolete":false,"parents":["HP:0012881"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Scrotum-like labia majora"}]} +{"alt_ids":[],"definition":"An anomaly of the wave-like muscle contractions of the digestive tract.","id":"HP:0030914","name":"Abnormal peristalsis","obsolete":false,"parents":["HP:0002579"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum.","id":"HP:0030915","name":"Cerebellar edema","obsolete":false,"parents":["HP:0001317"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Edema of the cerebellum"},{"scope":"EXACT","text":"Oedema of the cerebellum"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030917","name":"Low APGAR score","obsolete":false,"parents":["HP:0001197"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030918","name":"Low 1-minute APGAR score","obsolete":false,"parents":["HP:0030917"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low one-minute APGAR score"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030919","name":"Low 5-minute APGAR score","obsolete":false,"parents":["HP:0030917"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low five-minute APGAR score"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030920","name":"5-minute APGAR score of 0","obsolete":false,"parents":["HP:0030919"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030921","name":"5-minute APGAR score of 1","obsolete":false,"parents":["HP:0030919"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030922","name":"5-minute APGAR score of 2","obsolete":false,"parents":["HP:0030919"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030923","name":"5-minute APGAR score of 3","obsolete":false,"parents":["HP:0030919"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030924","name":"5-minute APGAR score of 4","obsolete":false,"parents":["HP:0030919"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030925","name":"5-minute APGAR score of 5","obsolete":false,"parents":["HP:0030919"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030926","name":"5-minute APGAR score of 6","obsolete":false,"parents":["HP:0030919"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030927","name":"1-minute APGAR score of 0","obsolete":false,"parents":["HP:0030918"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030928","name":"1-minute APGAR score of 1","obsolete":false,"parents":["HP:0030918"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030929","name":"1-minute APGAR score of 2","obsolete":false,"parents":["HP:0030918"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030930","name":"1-minute APGAR score of 3","obsolete":false,"parents":["HP:0030918"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030931","name":"1-minute APGAR score of 4","obsolete":false,"parents":["HP:0030918"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030932","name":"1-minute APGAR score of 5","obsolete":false,"parents":["HP:0030918"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030933","name":"1-minute APGAR score of 6","obsolete":false,"parents":["HP:0030918"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed.","id":"HP:0030934","name":"Oral erythroplakia","obsolete":false,"parents":["HP:0011830"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Oral erythroplasia"}]} +{"alt_ids":[],"definition":"A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine.","id":"HP:0030935","name":"Abnormal intestinal smooth muscle morphology","obsolete":false,"parents":["HP:0002242"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of intestinal smooth muscle morphology"}]} +{"alt_ids":[],"definition":"Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer.","id":"HP:0030936","name":"Abnormal layering of muscularis propria","obsolete":false,"parents":["HP:0030935"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscularis propria malformation"},{"scope":"EXACT","text":"Segmental additional circular muscle coat"}]} +{"alt_ids":[],"definition":"The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process.","id":"HP:0030937","name":"Fibrotic muscularis propria","obsolete":false,"parents":["HP:0030935"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Aggregates of stainable substances (proteins) in the nuclei of enteric neurons.","id":"HP:0030938","name":"Enteric intraneuronal nuclear inclusion bodies","obsolete":false,"parents":["HP:0025029"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased thickness of the eyelid not related to acute inflammation.","id":"HP:0030939","name":"Palpebral thickening","obsolete":false,"parents":["HP:0000492"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eyelid thickening"},{"scope":"EXACT","text":"Thick eyelids"},{"scope":"EXACT","text":"Thickened but nonswollen eyelids"},{"scope":"EXACT","text":"Thickened eyelid"}]} +{"alt_ids":[],"definition":"Pain in the vulvar area","id":"HP:0030943","name":"Vulvodynia","obsolete":false,"parents":["HP:0012531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vulvar pain"}]} +{"alt_ids":[],"definition":"Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells.","id":"HP:0030946","name":"Conjunctival papillae","obsolete":false,"parents":["HP:0000502"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bumps under the upper eyelid"},{"scope":"EXACT","text":"Tarsal papillae"}]} +{"alt_ids":[],"definition":"Small, dome-shaped nodules without a prominent central vessel located on the conjunctiva. The lymphoid follicles are located in the subendothelial region of the conjunctiva. They consist of a germinal center that contains immature, proliferating lymphocytes, as well as a corona that contains mature lymphocytes and plasma cells.","id":"HP:0030947","name":"Conjunctival follicles","obsolete":false,"parents":["HP:0000502"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.","id":"HP:0030948","name":"Elevated gamma-glutamyltransferase level","obsolete":false,"parents":["HP:0034444"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated serum GGT"}]} +{"alt_ids":[],"definition":"An abnormal accumulation of protein in the glomerulus.","id":"HP:0030949","name":"Glomerular deposits","obsolete":false,"parents":["HP:0000095"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension.","id":"HP:0030950","name":"Pulmonary venous hypertension","obsolete":false,"parents":["HP:0030875"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excessive formation of fibrous bands of scar tissue in between muscle fibers.","id":"HP:0030951","name":"Skeletal muscle fibrosis","obsolete":false,"parents":["HP:0011805"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle biopsy: fibrosis"}]} +{"alt_ids":[],"definition":"Multiple cream-yellow colored hypopigmented lesions typically located at the level of the outer choroid. They are between 50 and 1,500 micrometers in size with a characteristic nasal, radial distribution in the postequatorial fundus.","id":"HP:0030952","name":"Birdshot choroidal lesions","obsolete":false,"parents":["HP:0000610"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Birdshot laesions"},{"scope":"EXACT","text":"Birdshot lesions"},{"scope":"EXACT","text":"Birdshot retinochoroidopathy"}]} +{"alt_ids":[],"definition":"Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera.","id":"HP:0030953","name":"Conjunctival hyperemia","obsolete":false,"parents":["HP:0000502","HP:0025337"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Conjunctival hyperaemia"},{"scope":"EXACT","text":"Conjunctival injection"},{"scope":"EXACT","text":"Conjunctival vascular congestion"}]} +{"alt_ids":[],"definition":"An addictive behavior is defined as drinking excessive amounts of alcohol over a prolonged period of time, having difficulty in reducing the amount of alcohol consumed, strongly desiring alcohol, and experiencing withdrawal symptoms when not drinking alcohol.","id":"HP:0030955","name":"Addictive alcohol use","obsolete":false,"parents":["HP:5200329"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Alcohol addiction"},{"scope":"EXACT","text":"Alcoholism"}]} +{"alt_ids":[],"definition":"An anomaly of the electrical conduction physiology of the heart.","id":"HP:0030956","name":"Abnormality of cardiovascular system electrophysiology","obsolete":false,"parents":["HP:0011025"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion.","id":"HP:0030957","name":"Ventricular septal aneurysm","obsolete":false,"parents":["HP:0010438"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Ventricular septal dilatation"}]} +{"alt_ids":[],"definition":"Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).","id":"HP:0030958","name":"Membranous ventricular septal aneurysm","obsolete":false,"parents":["HP:0030957"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Aneurysm of the membranous ventricular septum"},{"scope":"EXACT","text":"Interventricular septum membranous part aneurysm"}]} +{"alt_ids":[],"definition":"Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).","id":"HP:0030959","name":"Muscular ventricular septal aneurysm","obsolete":false,"parents":["HP:0030957"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aneurysm of the muscular ventricular septum"}]} +{"alt_ids":[],"definition":null,"id":"HP:0030960","name":"obsolete Abnormal pupillary morphology","obsolete":true,"parents":[],"replaced_by":["HP:0000615"],"synonyms":[]} +{"alt_ids":[],"definition":"Microspherophakia is a rare congenital anomaly characterized by the abnormal spherical shape of the crystalline lens. It is characterized by an increased anteroposterior thickness of the lens associated with reduced equatorial diameter. The primary pathology lies in the development of zonules. The condition is often bilateral and is characterized by small, thick, and spherical lenses.","id":"HP:0030961","name":"Microspherophakia","obsolete":false,"parents":["HP:0008063","HP:0034375"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta.","id":"HP:0030962","name":"Abnormal morphology of the great vessels","obsolete":false,"parents":["HP:0033353"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030963","name":"obsolete Abnormal aortic morphology","obsolete":true,"parents":[],"replaced_by":["HP:0001679"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030964","name":"Abnormal aortic physiology","obsolete":false,"parents":["HP:0025323"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension.","id":"HP:0030965","name":"Aortic stiffness","obsolete":false,"parents":["HP:0030964"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased aortic stiffness"}]} +{"alt_ids":[],"definition":"An abnormality of the structure of the pulmonary artery.","id":"HP:0030966","name":"Abnormal pulmonary artery morphology","obsolete":false,"parents":["HP:0004414","HP:0030962"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the function of the pulmonary artery.","id":"HP:0030967","name":"Abnormal pulmonary artery physiology","obsolete":false,"parents":["HP:0004414"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the structure of the pulmonary veins.","id":"HP:0030968","name":"Abnormal pulmonary vein morphology","obsolete":false,"parents":["HP:0011718","HP:0030962"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the function of the pulmonary veins.","id":"HP:0030969","name":"Abnormal pulmonary vein physiology","obsolete":false,"parents":["HP:0011718"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the function of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.","id":"HP:0030970","name":"Abnormal vena cava physiology","obsolete":false,"parents":["HP:0030846"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030971","name":"obsolete Abnormal vena cava morphology","obsolete":true,"parents":[],"replaced_by":["HP:0005345"],"synonyms":[]} +{"alt_ids":[],"definition":"A chronic deviation from normal pressure in the systemic arterial system.","id":"HP:0030972","name":"Abnormal systemic blood pressure","obsolete":false,"parents":["HP:0011025"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal systemic BP"}]} +{"alt_ids":[],"definition":"Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse.","id":"HP:0030973","name":"Postexertional symptom exacerbation","obsolete":false,"parents":["HP:0003546"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Exercise-induced malaise"},{"scope":"EXACT","text":"Postexertional malaise"}]} +{"alt_ids":[],"definition":"A type of oligozoospermia in which spermatozoa can be detected in an ejaculate only after centrifugation and inspection of the pellet.","id":"HP:0030974","name":"Cryptozoospermia","obsolete":false,"parents":["HP:0000798"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cryptospermia"}]} +{"alt_ids":[],"definition":"An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle.","id":"HP:0030975","name":"Pontine tegmental cap","obsolete":false,"parents":["HP:0007361"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vaulted pontine tegmentum"}]} +{"alt_ids":[],"definition":"A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.","id":"HP:0030976","name":"Abnormal factor VIII activity","obsolete":false,"parents":["HP:0010989"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.","id":"HP:0030977","name":"Increased factor VIII activity","obsolete":false,"parents":["HP:0030976"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated factor VIII level"}]} +{"alt_ids":[],"definition":"A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.","id":"HP:0030978","name":"Decreased CSF/serum albumin ratio","obsolete":false,"parents":["HP:0030981"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Enlargement of the large blood vessels in the choroid.","id":"HP:0030979","name":"Dilatation of large choroidal vessels","obsolete":false,"parents":["HP:0000610"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dilated choroidal vessels"}]} +{"alt_ids":[],"definition":"An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).","id":"HP:0030980","name":"Reduced brain glutamine level by MRS","obsolete":false,"parents":["HP:0034496"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF.","id":"HP:0030981","name":"Abnormal CSF/serum albumin ratio","obsolete":false,"parents":["HP:0002921"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types.","id":"HP:0030983","name":"Ovarian thecoma","obsolete":false,"parents":["HP:0031918"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal concentration of serum bile acid concentration.","id":"HP:0030984","name":"Abnormal serum bile acid concentration","obsolete":false,"parents":["HP:0010996"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction in the concentration of bile acid in the blood.","id":"HP:0030985","name":"Decreased serum bile acid concentration","obsolete":false,"parents":["HP:0030984"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen.","id":"HP:0030986","name":"Biliary epithelial hyperplasia","obsolete":false,"parents":["HP:0012440"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cholangitis characterized by the presence of numerous polymorphonuclear cells around and within the wall as well as within the lumen of the ducts. This may involve ducts of any size and is occasionally associated with abscess formation (cholangitic abscess).","id":"HP:0030987","name":"Suppurative cholangitis","obsolete":false,"parents":["HP:0030151"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts.","id":"HP:0030988","name":"Granulomatous cholangitis","obsolete":false,"parents":["HP:0030151"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement.","id":"HP:0030989","name":"Lymphoid cholangitis","obsolete":false,"parents":["HP:0030151"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree.","id":"HP:0030990","name":"Pleomorphic cholangitis","obsolete":false,"parents":["HP:0030151"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative.","id":"HP:0030991","name":"Sclerosing cholangitis","obsolete":false,"parents":["HP:0030151"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fibrous cholangitis"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum.","id":"HP:0030992","name":"Abnormal pancreatic duct morphology","obsolete":false,"parents":["HP:0012090"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital anomaly characterized by the presence of two separate pancreatic ducts.","id":"HP:0030993","name":"Duplication of pancreatic duct","obsolete":false,"parents":["HP:0030992"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplicated pancreatic duct"}]} +{"alt_ids":[],"definition":"A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present.","id":"HP:0030994","name":"Pancreas divisum","obsolete":false,"parents":["HP:0012090"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0030995","name":"obsolete Peritoneal effusion","obsolete":true,"parents":[],"replaced_by":["HP:0001541"],"synonyms":[]} +{"alt_ids":[],"definition":"Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum.","id":"HP:0030996","name":"Megaduodenum","obsolete":false,"parents":["HP:0002246"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal closure or blockage of the vas deferens.","id":"HP:0030997","name":"Atretic vas deferens","obsolete":false,"parents":["HP:0012872"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atresia of the vas deferens"},{"scope":"EXACT","text":"Vas deferens atresia"}]} +{"alt_ids":[],"definition":"Drainage of cerebrospinal fluid through the nose. This can occur when there is a fistula between the dura and the skull base and discharge of cerebrospinal fluid (CSF) from the nose.","id":"HP:0030998","name":"Cerebrospinal fluid rhinorrhoea","obsolete":false,"parents":["HP:0002921"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CSF rhinorrhoea"}]} +{"alt_ids":["HP:0040110"],"definition":"Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement).","id":"HP:0030999","name":"Abnormal vestibular saccule morphology","obsolete":false,"parents":["HP:0011376"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal saccule morphology"},{"scope":"EXACT","text":"Morphological abnormality of the saccule"}]} +{"alt_ids":[],"definition":"Deterioration or loss of the tissues of the saccule of the vestibule.","id":"HP:0031000","name":"Vestibular saccular degeneration","obsolete":false,"parents":["HP:0030999"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diameter than a normal nerve fascicle.","id":"HP:0031001","name":"Minifascicle formation","obsolete":false,"parents":["HP:0000759"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of a nerve.","id":"HP:0031002","name":"Neuritis","obsolete":false,"parents":["HP:0000759"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Simultaneous inflammation of multiple nerves.","id":"HP:0031003","name":"Polyneuritis","obsolete":false,"parents":["HP:0031002"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multiple neuritis"}]} +{"alt_ids":[],"definition":"Areflexia that is limited to one side of the body.","id":"HP:0031004","name":"Hemiareflexia","obsolete":false,"parents":["HP:0001284"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0031005","name":"obsolete Hyperalgesia","obsolete":true,"parents":[],"replaced_by":["HP:0012534"],"synonyms":[]} +{"alt_ids":[],"definition":"A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes.","id":"HP:0031006","name":"Acroparesthesia","obsolete":false,"parents":["HP:0003401"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0031007","name":"Orofacial action-specific dystonia induced by speech","obsolete":false,"parents":["HP:0012179"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Jaw dystonia induced by speaking"}]} +{"alt_ids":[],"definition":"Involuntary protrusions, movements, spams and contortions of the tongue.","id":"HP:0031008","name":"Lingual dystonia","obsolete":false,"parents":["HP:0012179"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tongue dystonia"}]} +{"alt_ids":[],"definition":"Development of a fibrotic constriction ring involving the base of one or more toes, conditioning eversion and absorption of distal structures, possibly progressing to spontaneous amputation.","id":"HP:0031009","name":"Ainhum","obsolete":false,"parents":["HP:0001780"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dactylolysis spontanea"}]} +{"alt_ids":[],"definition":"An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint.","id":"HP:0031010","name":"Hyperphalangy of the 3rd finger","obsolete":false,"parents":["HP:0030367"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperphalangy of third finger"}]} +{"alt_ids":[],"definition":"Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV.","id":"HP:0031011","name":"Fatty streak","obsolete":false,"parents":["HP:0002621"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Sudanophilic lesion"}]} +{"alt_ids":[],"definition":"Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring less than 65 micrometers and typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis.","id":"HP:0031012","name":"Thin-cap fibroatheroma","obsolete":false,"parents":["HP:0002621"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"TCFA"}]} +{"alt_ids":[],"definition":"A reduction of joint mobility resulting from changes involving the articular surfaces.","id":"HP:0031013","name":"Ankylosis","obsolete":false,"parents":["HP:0001376"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0031014","name":"obsolete Arteria lusoria","obsolete":true,"parents":[],"replaced_by":["HP:0031632"],"synonyms":[]} +{"alt_ids":[],"definition":"Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices.","id":"HP:0031015","name":"Intrahepatic portal vein sclerosis","obsolete":false,"parents":["HP:0031941"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Idiopathic non-cirrhotic portal hypertension"},{"scope":"RELATED","text":"Incomplete septal cirrhosis"},{"scope":"RELATED","text":"Non cirrhotic portal fibrosis"},{"scope":"RELATED","text":"Obliterative portal venopathy"}]} +{"alt_ids":[],"definition":"Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra.","id":"HP:0031016","name":"Alternating radiolucent and radiodense metaphyseal lines","obsolete":false,"parents":["HP:0000944"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Zebra stripe sign"}]} +{"alt_ids":[],"definition":"Multiple defects in the atrial septum.","id":"HP:0031017","name":"Swiss cheese atrial septal defect","obsolete":false,"parents":["HP:0001631"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Eccrine syringofibroadenoma (ESFA) is a benign adnexal tumor arising most often on the extremities of elderly individuals characterized by anastomosing cords of cuboidal epithelial cells surrounded by a fibrovascular stroma containing plasma cells and ductal structures. ESFA stains positively with epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA).","id":"HP:0031018","name":"Eccrine syringofibroadenoma","obsolete":false,"parents":["HP:0008069"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acrosyringeal adenomatosis"},{"scope":"EXACT","text":"Eccrine syringofibroadenomatous hyperplasia"},{"scope":"EXACT","text":"Syringofibroadenoma"}]} +{"alt_ids":[],"definition":"Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments.","id":"HP:0031019","name":"Pyknotic bone marrow neutrophils","obsolete":false,"parents":["HP:0011992"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.","id":"HP:0031020","name":"Bone marrow hypercellularity","obsolete":false,"parents":["HP:0012145"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Myeloid hyperplasia"}]} +{"alt_ids":[],"definition":"A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy [NCI thesaurus].","id":"HP:0031021","name":"Squamous Papilloma","obsolete":false,"parents":["HP:0012740"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus].","id":"HP:0031022","name":"Oropharyngeal squamous papilloma","obsolete":false,"parents":["HP:0031021"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Squamous papilloma of the uvula"}]} +{"alt_ids":[],"definition":"Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath.","id":"HP:0031023","name":"Multiple mucosal neuromas","obsolete":false,"parents":["HP:0030430"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign skin adnexal tumor of eccrine differentiation.","id":"HP:0031024","name":"Cylindroma","obsolete":false,"parents":["HP:0012842"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A malignant neoplasm of the stomach that grows submucosally in the gastric wall. Necrosis and hemorrhage may be visible radiologically. Histologically, spindle cells with abnormal mitotic activity may be visible.","id":"HP:0031025","name":"Gastric leiomyosarcoma","obsolete":false,"parents":["HP:0006753"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature.","id":"HP:0031026","name":"Snail-like ilia","obsolete":false,"parents":["HP:0002867"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Schneckenbecken dysplasia"},{"scope":"EXACT","text":"Snail-like pelvis"},{"scope":"EXACT","text":"Snail-shaped ilia"}]} +{"alt_ids":[],"definition":"A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546.","id":"HP:0031027","name":"Internal notch of the femoral head","obsolete":false,"parents":["HP:0003368"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level.","id":"HP:0031028","name":"Lactescent serum","obsolete":false,"parents":["HP:0002155"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Milk-like serum"},{"scope":"EXACT","text":"Plasma lactescence"}]} +{"alt_ids":[],"definition":"The concentration of CEA (carcinoembryonic antigen) in the blood circulation is above the upper limit of normal.","id":"HP:0031029","name":"Elevated circulating CEA concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated carcinoembryonic antigen level"},{"scope":"EXACT","text":"Increased plasma CEA"}]} +{"alt_ids":[],"definition":"The concentration of mucin-16 (also known as CA-125) in the blood circulation is above the upper limit of normal.","id":"HP:0031030","name":"Elevated circulating mucin 16 concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated carcinoma antigen 125 level"},{"scope":"EXACT","text":"Elevated circulating CA-125 concentration"},{"scope":"EXACT","text":"Elevated mucin-16 concentration"},{"scope":"EXACT","text":"Elevated mucin-16 level"},{"scope":"EXACT","text":"Elevated mucin-16 level in blood"},{"scope":"EXACT","text":"Increased mucin-16 concentration"},{"scope":"EXACT","text":"Increased mucin-16 level"},{"scope":"EXACT","text":"Increased mucin-16 level in blood"},{"scope":"EXACT","text":"Increased plasma CA125"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of retinol-binding protein in the blood circulation.","id":"HP:0031031","name":"Abnormal circulating retinol-binding protein concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of retinol-binding protein in the blood circulation is below the lower limit of normal.","id":"HP:0031032","name":"Decreased circulating retinol-binding protein concentration","obsolete":false,"parents":["HP:0031031"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect.","id":"HP:0031033","name":"Impaired urinary acidification","obsolete":false,"parents":["HP:0012211"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Renal acidification defect"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of insulin-like growth factor-binding protein acid labile subunit in the blood circulation.","id":"HP:0031034","name":"Abnormal circulating insulin-like growth factor-binding protein acid labile subunit concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal insulin-like growth factor-binding protein complex acid labile subunit level"}]} +{"alt_ids":[],"definition":"Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection.","id":"HP:0031035","name":"Chronic infection","obsolete":false,"parents":["HP:0032101"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of GH-binding protein (= growth hormone-binding protein) in the blood circulation is below the lower limit of normal.","id":"HP:0031036","name":"Decreased circulating GH-binding protein concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased plasma GH-binding protein"}]} +{"alt_ids":[],"definition":"Blood concentration of insulin-like factor 3 (ILF3) is below normal limits.","id":"HP:0031037","name":"Reduced insulin-like factor 3 level","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced plasma INSL3 level"}]} +{"alt_ids":[],"definition":"Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa.","id":"HP:0031038","name":"Spermatogenesis maturation arrest","obsolete":false,"parents":["HP:0008669"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Meiotic maturation arrest of spermatogenesis"}]} +{"alt_ids":[],"definition":"A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatocyte stage. Testicular histology shows seminiferous tubules with Sertoli cells, spermatogonial cells and spermatocytes but no further differentiated cells like round spermatids.","id":"HP:0031039","name":"Spermatocyte maturation arrest","obsolete":false,"parents":["HP:0031038"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spermatocyte arrest"},{"scope":"EXACT","text":"Spermatocyte meiotic arrest"},{"scope":"EXACT","text":"Spermatocytic arrest"}]} +{"alt_ids":[],"definition":"A failure of spermatogenesis to progress beyond the round spermatid stage. The round spermatid is the first haploid cells produced during spermatogenesis and normally further develop into mature spermatozoa. This abnormality can be visualized with testicular biopsy and is characterized seminiferous tubules with increased numbers of round spermatids with few or no mature spermatozoa.","id":"HP:0031040","name":"Round spermatid arrest","obsolete":false,"parents":["HP:0031038"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Late spermatogenesis maturation arrest"},{"scope":"EXACT","text":"Maturation arrest of spermatogenesis at spermatid stage"}]} +{"alt_ids":[],"definition":"Blockage of blood flow through the superior vena cava (SVC). Because the venous drainage from the upper extremities, upper thorax and head is obstructed, SVC obstruction presents with symptoms related to engorgement of these areas. Both the degree of SVC compromise and the extent of collateral veins determine the varied clinical presentation, which can be as mild as slight facial and upper extremity edema or as dire as intracranial swelling, seizures, hemodynamic instability and tracheal obstruction.","id":"HP:0031041","name":"Obstruction of the superior vena cava","obsolete":false,"parents":["HP:0025575"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Superior vena cava obstruction"},{"scope":"RELATED","text":"Superior vena cava syndrome"}]} +{"alt_ids":[],"definition":"Inflamed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry.","id":"HP:0031042","name":"Strawberry tongue","obsolete":false,"parents":["HP:0030809"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Raspberry tongue"}]} +{"alt_ids":[],"definition":"A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits.","id":"HP:0031043","name":"Type A4 brachydactyly","obsolete":false,"parents":["HP:0009370"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5.","id":"HP:0031044","name":"Type A5 brachydactyly","obsolete":false,"parents":["HP:0009370"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet).","id":"HP:0031045","name":"Acral blistering","obsolete":false,"parents":["HP:0033800"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect characterized by lack of a soft palate.","id":"HP:0031046","name":"Absent soft palate","obsolete":false,"parents":["HP:0100736"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Agenesis of the soft palate"}]} +{"alt_ids":[],"definition":"An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells.","id":"HP:0031047","name":"Paraproteinemia","obsolete":false,"parents":["HP:0010702"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Monoclonal hypergammaglobulinemia"}]} +{"alt_ids":[],"definition":"An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.","id":"HP:0031048","name":"Light-chain paraproteinemia","obsolete":false,"parents":["HP:0031047"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.","id":"HP:0031049","name":"Heavy-chain paraproteinemia","obsolete":false,"parents":["HP:0031047"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells.","id":"HP:0031050","name":"Whole-immunoglobulin paraproteinemia","obsolete":false,"parents":["HP:0031047"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:0031051","name":"Tarsal sclerosis","obsolete":false,"parents":["HP:0009132","HP:0100925"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased blood concentration of vascular endothelial growth factor (VEGF).","id":"HP:0031052","name":"Elevated vascular endothelial growth factor level","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating VEGF concentration"}]} +{"alt_ids":[],"definition":"Narrowing or constriction of the aorta localized to the region of the transverse aortic arch.","id":"HP:0031053","name":"Coarctation in the transverse aortic arch","obsolete":false,"parents":["HP:0001680"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta.","id":"HP:0031054","name":"Long segment coarctation of the aorta","obsolete":false,"parents":["HP:0001680"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch).","id":"HP:0031055","name":"Abnormal branching pattern of left aortic arch","obsolete":false,"parents":["HP:0011587"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery.","id":"HP:0031056","name":"Fusiform cerebral aneurysm","obsolete":false,"parents":["HP:0004944"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intracranial fusiform aneurysm"}]} +{"alt_ids":[],"definition":"A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis.","id":"HP:0031057","name":"Skin fissure","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cracked skin"},{"scope":"EXACT","text":"Skin fissuring"}]} +{"alt_ids":[],"definition":"Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure.","id":"HP:0031058","name":"Impairment of activities of daily living","obsolete":false,"parents":["HP:0025142"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing.","id":"HP:0031059","name":"Impaired ability to bathe oneself","obsolete":false,"parents":["HP:0031058"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This applies to an individual who needs help with dressing or needs to be completely dressed.","id":"HP:0031060","name":"Impaired ability to dress oneself","obsolete":false,"parents":["HP:0031058"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode.","id":"HP:0031061","name":"Impaired toileting ability","obsolete":false,"parents":["HP:0031058"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an individual who needs help in moving from bed to chair or requires a complete transfer.","id":"HP:0031062","name":"Impaired transferring ability","obsolete":false,"parents":["HP:0031058"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an individual who needs partial or total help with feeding or requires parenteral feeding.","id":"HP:0031063","name":"Impaired feeding ability","obsolete":false,"parents":["HP:0031058"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Partial or total incontinence of bowel or bladder.","id":"HP:0031064","name":"Impaired continence","obsolete":false,"parents":["HP:0031058"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0031065","name":"Abnormal ovarian morphology","obsolete":false,"parents":["HP:0000137"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly of ovarian function.","id":"HP:0031066","name":"Abnormal ovarian physiology","obsolete":false,"parents":["HP:0030012"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization.","id":"HP:0031067","name":"Empty ovarian follicle","obsolete":false,"parents":["HP:0031066"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Empty follicle syndrome"}]} +{"alt_ids":[],"definition":null,"id":"HP:0031068","name":"obsolete Increased femoral torsion","obsolete":true,"parents":[],"replaced_by":["HP:0012427"],"synonyms":[]} +{"alt_ids":[],"definition":"Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degrees at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range.","id":"HP:0031069","name":"Abnormal femoral torsion","obsolete":false,"parents":["HP:0002823"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0031070","name":"obsolete Femoral retroversion","obsolete":true,"parents":[],"replaced_by":["HP:0008796"],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly of the structure of an organ ofthe endocrine system.","id":"HP:0031071","name":"Abnormal endocrine morphology","obsolete":false,"parents":["HP:0000818"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly of the function of the endocrine system.","id":"HP:0031072","name":"Abnormal endocrine physiology","obsolete":false,"parents":["HP:0000818"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomalous response to a test that is designed to probe the function of the endocrine system.","id":"HP:0031073","name":"Abnormal response to endocrine stimulation test","obsolete":false,"parents":["HP:0031072"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomalous response to stimulation by administration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline.","id":"HP:0031074","name":"Abnormal response to ACTH stimulation test","obsolete":false,"parents":["HP:0031073"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal response to adrenocorticotropic-hormone stimulation test"},{"scope":"EXACT","text":"Abnormal response to corticotropin stimulation test"}]} +{"alt_ids":[],"definition":"An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level.","id":"HP:0031075","name":"Abnormal response to insulin tolerance test","obsolete":false,"parents":["HP:0031073"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT).","id":"HP:0031076","name":"Impaired cortisol response to insulin stimulation test","obsolete":false,"parents":["HP:0031075"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals.","id":"HP:0031077","name":"Abnormal response to corticotropin releasing hormone stimulation test","obsolete":false,"parents":["HP:0031073"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal response to CRH stimulation test"}]} +{"alt_ids":[],"definition":"Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test.","id":"HP:0031078","name":"Impaired cortisol response to corticotropin releasing hormone stimulation test","obsolete":false,"parents":["HP:0031077"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT).","id":"HP:0031079","name":"Impaired growth-hormone response to insulin stimulation test","obsolete":false,"parents":["HP:0031075"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH).","id":"HP:0031080","name":"Abnormal response to glucagon stimulation test","obsolete":false,"parents":["HP:0031073"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test.","id":"HP:0031081","name":"Impaired cortisol response to glucagon stimulation test","obsolete":false,"parents":["HP:0031080"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test.","id":"HP:0031082","name":"Impaired growth-hormone response to glucagon stimulation test","obsolete":false,"parents":["HP:0031080"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors.","id":"HP:0031083","name":"Abnormal response to human chorionic gonadotrophin stimulation test","obsolete":false,"parents":["HP:0031073"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal response to hCG stimulation test"}]} +{"alt_ids":[],"definition":"An abnormally high increase in insulin levels following a glucagon stimulation test.","id":"HP:0031084","name":"Excessive insulin response to glucagon test","obsolete":false,"parents":["HP:0031080"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0033452"],"definition":"The concentration of prealbumin in the blood circulation is below the lower limit of normal.","id":"HP:0031085","name":"Decreased circulating prealbumin concentration","obsolete":false,"parents":["HP:0033450"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased prealbumin level"},{"scope":"EXACT","text":"Decreased transthyretin concentration"},{"scope":"EXACT","text":"Decreased transthyretin level"},{"scope":"EXACT","text":"Decreased transthyretin level in blood"},{"scope":"EXACT","text":"Reduced transthyretin concentration"},{"scope":"EXACT","text":"Reduced transthyretin level"},{"scope":"EXACT","text":"Reduced transthyretin level in blood"}]} +{"alt_ids":[],"definition":"Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels.","id":"HP:0031086","name":"Ectopic ovary","obsolete":false,"parents":["HP:0031065"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Undescended ovary"}]} +{"alt_ids":[],"definition":"The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur.","id":"HP:0031087","name":"Absent pubertal growth spurt","obsolete":false,"parents":["HP:0001510"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent adolescent growth spurt"}]} +{"alt_ids":[],"definition":"Persistent vaginal dryness.","id":"HP:0031088","name":"Vaginal dryness","obsolete":false,"parents":["HP:0000142"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Swelling related to fluid accumulation within the palate.","id":"HP:0031089","name":"Palatal edema","obsolete":false,"parents":["HP:0000174"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Palatal oedema"},{"scope":"EXACT","text":"Palate edema"},{"scope":"EXACT","text":"Palate oedema"}]} +{"alt_ids":[],"definition":"Fingers appear swollen and plump owing to inflammation of the complete finger.","id":"HP:0031090","name":"Finger dactylitis","obsolete":false,"parents":["HP:0001167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sausage fingers"}]} +{"alt_ids":[],"definition":"Toes appear swollen and plump owing to inflammation of the complete toe.","id":"HP:0031091","name":"Toe dactylitis","obsolete":false,"parents":["HP:0001780"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sausage toes"}]} +{"alt_ids":[],"definition":"Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base).","id":"HP:0031092","name":"Spindle-shaped finger","obsolete":false,"parents":["HP:0001167"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly of the structure of the breast.","id":"HP:0031093","name":"Abnormal breast morphology","obsolete":false,"parents":["HP:0000769"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly of the function of the breast.","id":"HP:0031094","name":"Abnormal breast physiology","obsolete":false,"parents":["HP:0000769"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0002988","HP:0003063"],"definition":"Any structural anomaly of the structure of the humerus (i.e., upper arm bone).","id":"HP:0031095","name":"Abnormal humerus morphology","obsolete":false,"parents":["HP:0011314","HP:0040070"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the humerus"}]} +{"alt_ids":[],"definition":"A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age.","id":"HP:0031096","name":"Delayed vertebral ossification","obsolete":false,"parents":["HP:0100569"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.","id":"HP:0031097","name":"Abnormal circulating thyroid-stimulating hormone concentration","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal TSH level"},{"scope":"EXACT","text":"Abnormal circulating thyrotropin concentration"},{"scope":"EXACT","text":"Abnormal thyrotropin level"}]} +{"alt_ids":[],"definition":"Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.","id":"HP:0031098","name":"Decreased thyroid-stimulating hormone level","obsolete":false,"parents":["HP:0031097"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased plasma TSH"},{"scope":"EXACT","text":"Decreased thyrotropin level"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone.","id":"HP:0031099","name":"Abnormal circulating inhibin level","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of inhibin B in the blood circulation is below the lower limit of normal.","id":"HP:0031100","name":"Decreased circulating inhibin B concentration","obsolete":false,"parents":["HP:0430147"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases.","id":"HP:0031101","name":"Abnormal circulating antimullerian hormone concentration","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal antimullerian hormone level"}]} +{"alt_ids":[],"definition":"An elevation above the normal range of the antimullerian hormone in the circulation.","id":"HP:0031102","name":"Increased circulating antimullerian hormone concentration","obsolete":false,"parents":["HP:0031101"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased antimullerian hormone level"},{"scope":"EXACT","text":"Increased plasma AMH"}]} +{"alt_ids":[],"definition":"A reduction below the normal range of the antimullerian hormone in the circulation.","id":"HP:0031103","name":"Decreased circulating antimullerian hormone circulation","obsolete":false,"parents":["HP:0031101"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-Mullerian hormone low"},{"scope":"EXACT","text":"Decreased antimullerian hormone level"},{"scope":"EXACT","text":"Decreased plasma AMH"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor.","id":"HP:0031104","name":"Insulin receptor antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly of the structure of the uterus","id":"HP:0031105","name":"Abnormal uterus morphology","obsolete":false,"parents":["HP:0000130"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging.","id":"HP:0031106","name":"T-shaped uterus","obsolete":false,"parents":["HP:0031105"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced width of the cross sectional diameter of the fibula.","id":"HP:0031107","name":"Decreased fibular diameter","obsolete":false,"parents":["HP:0002991"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thin fibula"}]} +{"alt_ids":[],"definition":"A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements.","id":"HP:0031108","name":"Triceps weakness","obsolete":false,"parents":["HP:0008997"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant.","id":"HP:0031109","name":"Agalactia","obsolete":false,"parents":["HP:0031094"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lactation incapacity"}]} +{"alt_ids":[],"definition":"As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor's development and growth. The blood volume of the recipient twin is increased, which can strain the fetus's heart and eventually lead to heart failure.","id":"HP:0031110","name":"Twin-to-twin transfusion","obsolete":false,"parents":["HP:0034059"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Twin to twin transfusion syndrome"}]} +{"alt_ids":[],"definition":"A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin.","id":"HP:0031111","name":"Cutaneous hamartoma","obsolete":false,"parents":["HP:0010566"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Skin hamartoma"}]} +{"alt_ids":[],"definition":"A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis.","id":"HP:0031117","name":"Purely bicuspid aortic valve","obsolete":false,"parents":["HP:0001647"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size.","id":"HP:0031118","name":"Single raphe bicuspid aortic valve","obsolete":false,"parents":["HP:0001647"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure.","id":"HP:0031119","name":"Bicuspid aortic valve with right-left cusp fusion","obsolete":false,"parents":["HP:0031118"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure.","id":"HP:0031120","name":"Bicuspid aortic valve with right-noncoronary cusp fusion","obsolete":false,"parents":["HP:0031118"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure.","id":"HP:0031121","name":"Bicuspid aortic valve with left-noncoronary cusp fusion","obsolete":false,"parents":["HP:0031118"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis.","id":"HP:0031122","name":"Two-raphe bicuspid aortic valve","obsolete":false,"parents":["HP:0001647"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis.","id":"HP:0031123","name":"Recurrent gastroenteritis","obsolete":false,"parents":["HP:0004798"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2).","id":"HP:0031124","name":"Decreased platelet thromboxane A2 receptor","obsolete":false,"parents":["HP:0011878"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine.","id":"HP:0031125","name":"Decreased platelet alpha-2A-adrenergic receptor","obsolete":false,"parents":["HP:0011878"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration.","id":"HP:0031126","name":"Impaired clot retraction","obsolete":false,"parents":["HP:0011869"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal response to convulxin as manifested by reduced or lacking aggregation of platelets upon addition of convulxin.","id":"HP:0031127","name":"Impaired convulxin-induced platelet aggregation","obsolete":false,"parents":["HP:0003540"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP.","id":"HP:0031128","name":"Impaired collagen-related peptide-induced platelet aggregation","obsolete":false,"parents":["HP:0003540"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA.","id":"HP:0031129","name":"Impaired phorbol myristate acetate-induced platelet aggregation","obsolete":false,"parents":["HP:0003540"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore.","id":"HP:0031130","name":"Impaired calcium ionophore-induced platelet aggregation","obsolete":false,"parents":["HP:0003540"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Impaired Ca ionophore-induced platelet aggregation"},{"scope":"EXACT","text":"Impaired Ca2+ ionophore-induced platelet aggregation"}]} +{"alt_ids":[],"definition":"An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement.","id":"HP:0031131","name":"Abnormal platelet phosphatidylserine exposure","obsolete":false,"parents":["HP:0011869"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.","id":"HP:0031132","name":"Impaired annexin V binding to platelet phosphatidylserine","obsolete":false,"parents":["HP:0031131"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.","id":"HP:0031133","name":"Increased annexin V binding to platelet phosphatidylserine","obsolete":false,"parents":["HP:0031132"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum.","id":"HP:0031134","name":"Cor triatriatum sinister","obsolete":false,"parents":["HP:0010774"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by exposure to a trauma (injury to tissue).","id":"HP:0031135","name":"Triggered by physical trauma","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Physical trauma triggered symptoms"}]} +{"alt_ids":[],"definition":"A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process.","id":"HP:0031136","name":"Decreased acrosin in sperm head","obsolete":false,"parents":["HP:0012865"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material.","id":"HP:0031137","name":"Storage in hepatocytes","obsolete":false,"parents":["HP:0034644"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP).","id":"HP:0031138","name":"Abnormal circulating B-type natriuretic peptide concentration","obsolete":false,"parents":["HP:6000692"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal B-type natriuretic peptide level"}]} +{"alt_ids":[],"definition":"A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog.","id":"HP:0031139","name":"Frog-leg posture","obsolete":false,"parents":["HP:0001252"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal appearance of the liver or any of its components on sonography (ultrasound).","id":"HP:0031140","name":"Abnormal liver sonography","obsolete":false,"parents":["HP:0410042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device.","id":"HP:0031141","name":"Increased hepatic echogenicity","obsolete":false,"parents":["HP:0031142"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperechogenic liver"}]} +{"alt_ids":[],"definition":"Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen).","id":"HP:0031142","name":"Abnormal hepatic echogenicity","obsolete":false,"parents":["HP:0031140"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device.","id":"HP:0031143","name":"Decreased hepatic echogenicity","obsolete":false,"parents":["HP:0031142"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoechogenic liver"}]} +{"alt_ids":[],"definition":"The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography.","id":"HP:0031144","name":"Coarsened hepatic echotexture","obsolete":false,"parents":["HP:0031140"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background).","id":"HP:0031145","name":"Starry sky appearance on hepatic sonography","obsolete":false,"parents":["HP:0031140"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed.","id":"HP:0031146","name":"Impaired oral bolus formation","obsolete":false,"parents":["HP:0002015"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions.","id":"HP:0031150","name":"Vitreomacular adhesion","obsolete":false,"parents":["HP:0001103","HP:0004327"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"VMA"}]} +{"alt_ids":[],"definition":"Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad.","id":"HP:0031151","name":"Vitreomacular traction","obsolete":false,"parents":["HP:0001103","HP:0004327"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"VMT"}]} +{"alt_ids":[],"definition":"Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction.","id":"HP:0031152","name":"Full-thickness macular hole","obsolete":false,"parents":["HP:0011508"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"FTMH"}]} +{"alt_ids":[],"definition":"Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane.","id":"HP:0031153","name":"Membranous vitreous appearance","obsolete":false,"parents":["HP:0004327"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Membranous anomaly"},{"scope":"EXACT","text":"Membranous vitreous"},{"scope":"EXACT","text":"Membranous vitreous phenotype"}]} +{"alt_ids":[],"definition":"Vitreous humor of the eye displaying beaded bundles of irregular diameters.","id":"HP:0031154","name":"Beaded vitreous appearance","obsolete":false,"parents":["HP:0004327"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record.","id":"HP:0031155","name":"Increased Arden ratio of electrooculogram","obsolete":false,"parents":["HP:0030454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased Arden ratio of EOG"}]} +{"alt_ids":[],"definition":"Decreased platelet cell membrane concentration of glycoprotein Ib.","id":"HP:0031156","name":"Decreased platelet glycoprotein Ib","obsolete":false,"parents":["HP:0011878"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal connection between a carotid artery and the cavernous sinus.","id":"HP:0031157","name":"Carotid cavernous fistula","obsolete":false,"parents":["HP:0005344"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Caroticocavernous fistula"}]} +{"alt_ids":[],"definition":"An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility.","id":"HP:0031158","name":"Widened atrophic scar","obsolete":false,"parents":["HP:0001075"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction in the thickness of Descemet's membrane.","id":"HP:0031159","name":"Thinning of Descemet membrane","obsolete":false,"parents":["HP:0011490"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Impaired egress of mature neutrophils from bone marrow causing neutropenia.","id":"HP:0031160","name":"Myelokathexis","obsolete":false,"parents":["HP:0012135"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS).","id":"HP:0031161","name":"Reduced brain glutamate level by MRS","obsolete":false,"parents":["HP:0012705"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars.","id":"HP:0031162","name":"Impaired oropharyngeal swallow response","obsolete":false,"parents":["HP:0002015"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced bone mineral density of the femur.","id":"HP:0031163","name":"Low femoral bone density","obsolete":false,"parents":["HP:0002823"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low femur bone density"}]} +{"alt_ids":[],"definition":"Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone.","id":"HP:0031164","name":"Growth arrest lines","obsolete":false,"parents":["HP:0031367"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Growth resumption lines"},{"scope":"EXACT","text":"Harris lines"}]} +{"alt_ids":[],"definition":"Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations).","id":"HP:0031165","name":"Multifocal seizures","obsolete":false,"parents":["HP:0007359"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multifocal onset seizures"}]} +{"alt_ids":[],"definition":"Involuntary, fine, continuous, undulating contractions of the eyelid.","id":"HP:0031166","name":"Eyelid myokymia","obsolete":false,"parents":["HP:0002411"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Myokymia orbicularis"},{"scope":"EXACT","text":"Orbicularis myokymia"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium.","id":"HP:0031167","name":"Triggered by ingestion of potassium-rich food","obsolete":false,"parents":["HP:0033793"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Potassium-rich food triggered symptoms"},{"scope":"EXACT","text":"Triggered by ingestion of K-rich food"}]} +{"alt_ids":[],"definition":"A pregnancy that extends to 42 weeks of gestation or beyond.","id":"HP:0031169","name":"Postterm pregnancy","obsolete":false,"parents":["HP:0001197"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fetal masculinization of female external genitalia.","id":"HP:0031170","name":"Female fetal virilization","obsolete":false,"parents":["HP:0034242"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Female foetal virilization"}]} +{"alt_ids":[],"definition":"A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck.","id":"HP:0031171","name":"Femoral spur","obsolete":false,"parents":["HP:0002823"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spurring of femur"}]} +{"alt_ids":[],"definition":"A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration.","id":"HP:0031172","name":"Sectoral retinitis pigmentosa","obsolete":false,"parents":["HP:0000510"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A bony projection (spur, osteophyte) originating from the tibia.","id":"HP:0031173","name":"Tibial spur","obsolete":false,"parents":["HP:0002992"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spurring of tibiae"}]} +{"alt_ids":[],"definition":"An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood.","id":"HP:0031174","name":"Double-layered patella","obsolete":false,"parents":["HP:0003045"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine.","id":"HP:0031175","name":"Absent cervical vertebra","obsolete":false,"parents":["HP:0008465"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine.","id":"HP:0031176","name":"Absent thoracic vertebra","obsolete":false,"parents":["HP:0008465"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion.","id":"HP:0031177","name":"Finger flexor weakness","obsolete":false,"parents":["HP:0030237"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Head is bent in the posterior direction in a permanent fashion.","id":"HP:0031178","name":"Fixed head retroflexion","obsolete":false,"parents":["HP:0000234"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated.","id":"HP:0031179","name":"Nuchal rigidity","obsolete":false,"parents":["HP:0005986"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Meningism"}]} +{"alt_ids":[],"definition":"An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter).","id":"HP:0031180","name":"Erythema migrans","obsolete":false,"parents":["HP:0010783"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Erythema chronicum migrans"}]} +{"alt_ids":[],"definition":"Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution.","id":"HP:0031181","name":"Necrolytic migratory erythema","obsolete":false,"parents":["HP:0010783"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of NT-proBNP (= N-terminal pro-B-type natriuretic peptide, = N-terminal prohormone of brain natriuretic peptide) in the blood circulation is above the upper limit of normal.","id":"HP:0031185","name":"Elevated circulating NT-proBNP concentration","obsolete":false,"parents":["HP:0031138"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased NT-proBNP level"}]} +{"alt_ids":[],"definition":"An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone.","id":"HP:0031186","name":"Abnormal circulating deoxycorticosterone level","obsolete":false,"parents":["HP:0012112"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the concentration of pregnenolone in the blood.","id":"HP:0031187","name":"Abnormal circulating pregnenolone concentration","obsolete":false,"parents":["HP:0033799"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of circulating pregnenolone level"}]} +{"alt_ids":[],"definition":"A buildup of fluid that causes swelling in the soft tissues of the genital area.","id":"HP:0031188","name":"Genital edema","obsolete":false,"parents":["HP:0000969"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Genital oedema"}]} +{"alt_ids":[],"definition":"A condition in which the affected individual cannot extend the wrist, which hangs flaccidly.","id":"HP:0031189","name":"Wrist drop","obsolete":false,"parents":["HP:0003484"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Numerous lymphocytes surrounding blood vessels in the superficial part of the dermis.","id":"HP:0031190","name":"Superficial dermal perivascular inflammatory infiltrate","obsolete":false,"parents":["HP:0011123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Superficial perivascular inflammatory infiltrate"}]} +{"alt_ids":[],"definition":"Numerous lymphocytes surrounding blood vessels in the deep part of the dermis.","id":"HP:0031191","name":"Deep dermal perivascular inflammatory infiltrate","obsolete":false,"parents":["HP:0011123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deep perivascular inflammatory infiltrate"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae).","id":"HP:0031192","name":"Abnormal morphology of left ventricular trabeculae","obsolete":false,"parents":["HP:0030681"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae).","id":"HP:0031193","name":"Abnormal morphology of right ventricular trabeculae","obsolete":false,"parents":["HP:0030681"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae).","id":"HP:0031194","name":"Increased density of left ventricular trabeculae","obsolete":false,"parents":["HP:0031192"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased number and density of the trabeculae in the apex (tip) of the left ventricle.","id":"HP:0031195","name":"Apical hypertrabeculation of the left ventricle","obsolete":false,"parents":["HP:0031192"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced thickness of the outer, dense layer of the myocardium.","id":"HP:0031196","name":"Thin myocardium compact layer","obsolete":false,"parents":["HP:0031316"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells).","id":"HP:0031197","name":"Cellular urinary casts","obsolete":false,"parents":["HP:0012615"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cellular casts"}]} +{"alt_ids":[],"definition":"A type of cellular urinary cast composed of renal tubular epithelial cells.","id":"HP:0031198","name":"Renal tubular epithelial cell casts","obsolete":false,"parents":["HP:0031197"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells.","id":"HP:0031199","name":"Acellular urinary casts","obsolete":false,"parents":["HP:0012615"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acellular casts"}]} +{"alt_ids":[],"definition":"A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends.","id":"HP:0031200","name":"Hyaline casts","obsolete":false,"parents":["HP:0031199"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented.","id":"HP:0031201","name":"Granular casts","obsolete":false,"parents":["HP:0031199"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts.","id":"HP:0031202","name":"Waxy casts","obsolete":false,"parents":["HP:0031199"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarized light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses.","id":"HP:0031203","name":"Fatty casts","obsolete":false,"parents":["HP:0031199"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection.","id":"HP:0031204","name":"Bacterial cell casts","obsolete":false,"parents":["HP:0012615"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins.","id":"HP:0031205","name":"Reduced lysosomal acid lipase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced leukocyte acid lipase activity"}]} +{"alt_ids":[],"definition":"Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging.","id":"HP:0031206","name":"Striatal T2 hyperintensity","obsolete":false,"parents":["HP:0007183","HP:0010994"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size.","id":"HP:0031207","name":"Hepatic hemangioma","obsolete":false,"parents":["HP:0002896","HP:0410266"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hemangioma of the liver"},{"scope":"EXACT","text":"Liver hemangioma"}]} +{"alt_ids":[],"definition":"An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones.","id":"HP:0031208","name":"Increased pituitary glycoprotein hormone alpha subunit level","obsolete":false,"parents":["HP:0032481"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased pituitary glycoprotein alpha subunit level"},{"scope":"EXACT","text":"Increased pituitary glycoprotein polypeptide alpha subunit level"}]} +{"alt_ids":[],"definition":"Reduction in the level of lipoprotein lipase in the blood.","id":"HP:0031209","name":"Decreased circulating lipoprotein lipase concentration","obsolete":false,"parents":["HP:0033477"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased lipoprotein lipase level"}]} +{"alt_ids":[],"definition":"A deviation from the normal concentration of hyaluronic acid in the blood.","id":"HP:0031210","name":"Abnormal circulating hyaluronic acid concentration","obsolete":false,"parents":["HP:0011012"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0500010"],"definition":"The concentration of cholesteryl ester in the blood circulation is above the upper limit of normal.","id":"HP:0031211","name":"Elevated circulating cholesteryl ester concentration","obsolete":false,"parents":["HP:0003107"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated cholesteryl ester concentration"},{"scope":"EXACT","text":"Elevated cholesteryl ester level"},{"scope":"EXACT","text":"Elevated cholesteryl ester level in blood"},{"scope":"EXACT","text":"Increased cholesterol esters"},{"scope":"EXACT","text":"Increased cholesteryl ester concentration"},{"scope":"EXACT","text":"Increased cholesteryl ester level"},{"scope":"EXACT","text":"Increased cholesteryl ester level in blood"},{"scope":"EXACT","text":"Increased cholesteryl esters"}]} +{"alt_ids":[],"definition":null,"id":"HP:0031212","name":"Abnormal circulating progesterone level","obsolete":false,"parents":["HP:0033799"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase.","id":"HP:0031213","name":"Elevated circulating 17-hydroxyprogesterone concentration","obsolete":false,"parents":["HP:0031216"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating 17-OHP"},{"scope":"EXACT","text":"Elevated circulating 17-hydroxyprogesterone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0031214","name":"Decreased circulating dehydroepiandrosterone concentration","obsolete":false,"parents":["HP:0500022"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating dehydroepiandrosterone level"}]} +{"alt_ids":[],"definition":"A reduced concentration of dehydroepiandrosterone-sulfate in the blood.","id":"HP:0031215","name":"Decreased circulating dehydroepiandrosterone-sulfate concentration","obsolete":false,"parents":["HP:0030347"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating dehydroepiandrosterone-sulfate level"}]} +{"alt_ids":[],"definition":"An elevated concentration of progesterone in the blood.","id":"HP:0031216","name":"Increased circulating progesterone","obsolete":false,"parents":["HP:0031212"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Sudden feelings of warmth that are generally most pronounced over the face, neck and chest.","id":"HP:0031217","name":"Hot flashes","obsolete":false,"parents":["HP:0025142"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume.","id":"HP:0031218","name":"Inappropriate antidiuretic hormone secretion","obsolete":false,"parents":["HP:0031072"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inappropriate ADH secretion"},{"scope":"RELATED","text":"SIADH"},{"scope":"RELATED","text":"Syndrome of inappropriate antidiuretic hormone secretion"}]} +{"alt_ids":[],"definition":"A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.","id":"HP:0031219","name":"Reduced radioactive iodine uptake","obsolete":false,"parents":["HP:0031221"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.","id":"HP:0031220","name":"Increased radioactive iodine uptake","obsolete":false,"parents":["HP:0031221"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.","id":"HP:0031221","name":"Abnormal radioactive iodine uptake test result","obsolete":false,"parents":["HP:0002926"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of thyroxine-binding globulin in the blood circulation is above the upper limit of normal.","id":"HP:0031222","name":"Elevated circulating thyroxine-binding globulin concentration","obsolete":false,"parents":["HP:0034590"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated thyroxine-binding globulin concentration"},{"scope":"EXACT","text":"Elevated thyroxine-binding globulin level"},{"scope":"EXACT","text":"Elevated thyroxine-binding globulin level in blood"},{"scope":"EXACT","text":"Increased thyroxine-binding globulin concentration"},{"scope":"EXACT","text":"Increased thyroxine-binding globulin level"},{"scope":"EXACT","text":"Increased thyroxine-binding globulin level in blood"},{"scope":"EXACT","text":"Thyroxine-binding globulin high in blood"}]} +{"alt_ids":[],"definition":"Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others.","id":"HP:0031223","name":"Focal pancreatic islet hyperplasia","obsolete":false,"parents":["HP:0004510"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hyperplasia of the islets of Langerhans with a generalized distribution.","id":"HP:0031224","name":"Diffuse pancreatic islet hyperplasia","obsolete":false,"parents":["HP:0004510"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs.","id":"HP:0031225","name":"Intrapulmonary shunt","obsolete":false,"parents":["HP:0030875"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intrapulmonary shunting"}]} +{"alt_ids":[],"definition":"An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography.","id":"HP:0031226","name":"Perinephric fluid collection","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A teratoma arising in the nasopharyngeal region.","id":"HP:0031227","name":"Nasopharyngeal teratoma","obsolete":false,"parents":["HP:0009792"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus.","id":"HP:0031228","name":"Abnormal incisura morphology","obsolete":false,"parents":["HP:0011039"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The length of the incisura from the upper to lower border is greater than that observed in the average population.","id":"HP:0031229","name":"Increased incisura length","obsolete":false,"parents":["HP:0031228"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The length of the incisura from the upper to lower border is less than that observed in the average population.","id":"HP:0031230","name":"Decreased incisura length","obsolete":false,"parents":["HP:0031228"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Width of the incisura from the anterior to posterior border less than that observed in the average population.","id":"HP:0031231","name":"Narrow incisura width","obsolete":false,"parents":["HP:0031228"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Breadth of the incisura from the anterior to posterior border greater than that observed in the average population.","id":"HP:0031232","name":"Increased incisura width","obsolete":false,"parents":["HP:0031228"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape).","id":"HP:0031233","name":"Horizontal inferior border of scapula","obsolete":false,"parents":["HP:0000782"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Squaring of the inferior scapulae"},{"scope":"EXACT","text":"Squaring of the scapula"}]} +{"alt_ids":[],"definition":"A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin).","id":"HP:0031234","name":"Neutrophilic infiltration of the skin","obsolete":false,"parents":["HP:0011123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Collection of neutrophils in the epidermis.","id":"HP:0031235","name":"Predominantly epidermal neutrophilic infiltrate","obsolete":false,"parents":["HP:0031234"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Collection of neutrophils in the dermis.","id":"HP:0031236","name":"Predominantly dermal neutrophilic infiltrate","obsolete":false,"parents":["HP:0031234"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased proportion of nuclei of sarcomeres with an internal localization. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5% of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei.","id":"HP:0031237","name":"Internally nucleated skeletal muscle fibers","obsolete":false,"parents":["HP:0020201"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Internally nucleated skeletal muscle fibres"}]} +{"alt_ids":[],"definition":"A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules.","id":"HP:0031238","name":"Necklace skeletal muscle fibers","obsolete":false,"parents":["HP:0004303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Necklace skeletal muscle fibres"}]} +{"alt_ids":[],"definition":"A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea.","id":"HP:0031239","name":"Extrafoveal choroidal neovascularization","obsolete":false,"parents":["HP:0011506"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea.","id":"HP:0031240","name":"Juxtafoveal choroidal neovascularization","obsolete":false,"parents":["HP:0011506","HP:0030495"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea.","id":"HP:0031241","name":"Subfoveal choroidal neovascularization","obsolete":false,"parents":["HP:0011506","HP:0030495"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.","id":"HP:0031242","name":"Decreased circulating chylomicron concentration","obsolete":false,"parents":["HP:0010981","HP:0031887"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating chylomicron levels"},{"scope":"EXACT","text":"Hypochylomicronemia"}]} +{"alt_ids":[],"definition":"The concentration of very-low-density lipoprotein cholesterol in the blood circulation is below the lower limit of normal.","id":"HP:0031243","name":"Decreased circulating VLDL-C concentration","obsolete":false,"parents":["HP:0010981","HP:0031889"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating very-low-density lipoprotein levels"},{"scope":"EXACT","text":"Decreased very-low-density lipoprotein cholesterol concentration"},{"scope":"EXACT","text":"Decreased very-low-density lipoprotein cholesterol level"},{"scope":"EXACT","text":"Decreased very-low-density lipoprotein cholesterol level in blood"},{"scope":"EXACT","text":"Reduced very-low-density lipoprotein cholesterol concentration"},{"scope":"EXACT","text":"Reduced very-low-density lipoprotein cholesterol level"},{"scope":"EXACT","text":"Reduced very-low-density lipoprotein cholesterol level in blood"}]} +{"alt_ids":[],"definition":"Enlargement of the lip typically due to fluid buildup or inflammation.","id":"HP:0031244","name":"Swollen lip","obsolete":false,"parents":["HP:0000159"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Edematous lip"},{"scope":"EXACT","text":"Lip swelling"},{"scope":"EXACT","text":"Swelling of the lip"}]} +{"alt_ids":[],"definition":"A cough that produces phlegm or mucus.","id":"HP:0031245","name":"Productive cough","obsolete":false,"parents":["HP:0012735"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cough with mucus production"},{"scope":"EXACT","text":"Wet cough"}]} +{"alt_ids":[],"definition":"A cough that does not produce phlegm or mucus.","id":"HP:0031246","name":"Nonproductive cough","obsolete":false,"parents":["HP:0012735"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dry cough"},{"scope":"EXACT","text":"Dry coughing"}]} +{"alt_ids":[],"definition":"A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air.","id":"HP:0031247","name":"Whooping cough","obsolete":false,"parents":["HP:0012735"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand.","id":"HP:0031248","name":"Palmar pruritus","obsolete":false,"parents":["HP:0030899"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Itchy palm"}]} +{"alt_ids":[],"definition":"A distortion of the sense of taste, often characterized by the sensation of a metallic taste.","id":"HP:0031249","name":"Parageusia","obsolete":false,"parents":["HP:0000223"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Altered sense of taste"},{"scope":"EXACT","text":"Dysgeusia"},{"scope":"EXACT","text":"Metallic taste"},{"scope":"EXACT","text":"Metallic taste in mouth"}]} +{"alt_ids":[],"definition":"A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation.","id":"HP:0031250","name":"Lip fissure","obsolete":false,"parents":["HP:0000159"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly of a subclavian artery.","id":"HP:0031251","name":"Abnormal subclavian artery morphology","obsolete":false,"parents":["HP:0011004"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally increased caliber of the left subclavian artery.","id":"HP:0031252","name":"Dilated left subclavian artery","obsolete":false,"parents":["HP:0031251"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Origin of the left subclavian artery from an anomalous anatomical location.","id":"HP:0031253","name":"Anomalous origin of left subclavian artery","obsolete":false,"parents":["HP:0031251"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus.","id":"HP:0031254","name":"Thalamic arteriovenous malformation","obsolete":false,"parents":["HP:0010663"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus.","id":"HP:0031255","name":"Hypothalamic arteriovenous malformation","obsolete":false,"parents":["HP:0012286"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve.","id":"HP:0031256","name":"Optic nerve arteriovenous malformation","obsolete":false,"parents":["HP:0000587"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla.","id":"HP:0031257","name":"Arteriovenous malformation of the maxilla","obsolete":false,"parents":["HP:0000326"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A state of sudden and severe confusion.","id":"HP:0031258","name":"Delirium","obsolete":false,"parents":["HP:0001289"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Altered consciousness or cognition"}]} +{"alt_ids":[],"definition":"An inflammation of the ovary or ovaries.","id":"HP:0031259","name":"Oophoritis","obsolete":false,"parents":["HP:0031065"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inflammed ovary"}]} +{"alt_ids":[],"definition":"A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally.","id":"HP:0031260","name":"Triangular tibia","obsolete":false,"parents":["HP:0002992"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal growth that projects from the mucous membrane of the urinary bladder.","id":"HP:0031261","name":"Bladder polyp","obsolete":false,"parents":["HP:0025487"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomalous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule.","id":"HP:0031263","name":"Abnormal renal corpuscle morphology","obsolete":false,"parents":["HP:0011035","HP:0012575"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule.","id":"HP:0031264","name":"Abnormal Bowman capsule morphology","obsolete":false,"parents":["HP:0031263"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal morphology of Bowman capsule"},{"scope":"EXACT","text":"Abnormal morphology of Bowman's capsule"},{"scope":"EXACT","text":"Abnormal renal glomerular capsule morphology"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary.","id":"HP:0031265","name":"Abnormal glomerular visceral epithelial cell morphology","obsolete":false,"parents":["HP:0031264"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal podocyte morphology"},{"scope":"EXACT","text":"Abnormal visceral epithelial cell morphology"}]} +{"alt_ids":[],"definition":"An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier.","id":"HP:0031266","name":"Podocyte foot process effacement","obsolete":false,"parents":["HP:0031265"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Loss of primary podocyte processes"}]} +{"alt_ids":[],"definition":"Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus.","id":"HP:0031267","name":"Abnormal CD69 upregulation upon TCR activation","obsolete":false,"parents":["HP:0410035"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR).","id":"HP:0031268","name":"Decreased CD69 upregulation upon TCR activation","obsolete":false,"parents":["HP:0031267"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression.","id":"HP:0031269","name":"Abnormal CD25 upregulation upon TCR activation","obsolete":false,"parents":["HP:0410035"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR).","id":"HP:0031270","name":"Decreased CD25 upregulation upon TCR activation","obsolete":false,"parents":["HP:0031269"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Poor CD25 upregulation upon TCR activation"},{"scope":"EXACT","text":"Reduced IL2RA upregulation upon TCR activation"}]} +{"alt_ids":[],"definition":"The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination.","id":"HP:0031271","name":"Absent ankle pulse","obsolete":false,"parents":["HP:0032554"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery.","id":"HP:0031272","name":"Pulmonary arterial atherosclerosis","obsolete":false,"parents":["HP:0030966"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury.","id":"HP:0031273","name":"Shock","obsolete":false,"parents":["HP:0011025"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures.","id":"HP:0031274","name":"Hypovolemic shock","obsolete":false,"parents":["HP:0031273"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage","id":"HP:0031275","name":"Distributive shock","obsolete":false,"parents":["HP:0031273"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism).","id":"HP:0031276","name":"Obstructive shock","obsolete":false,"parents":["HP:0031273"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the thoracic duct.","id":"HP:0031278","name":"Abnormal thoracic duct morphology","obsolete":false,"parents":["HP:0100766"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH).","id":"HP:0031279","name":"Abnormal response to gonadotropin-releasing hormone stimulation test","obsolete":false,"parents":["HP:0031073"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal response to GnRH stimulation test"}]} +{"alt_ids":[],"definition":"An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test.","id":"HP:0031280","name":"Increased LH response to gonadotropin-releasing hormone stimulation test","obsolete":false,"parents":["HP:0031279"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of a salivary gland.","id":"HP:0031281","name":"Sialadenitis","obsolete":false,"parents":["HP:0010286"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges.","id":"HP:0031282","name":"Malalignment of the great toenail","obsolete":false,"parents":["HP:0008388"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice.","id":"HP:0031283","name":"Tufted hairs","obsolete":false,"parents":["HP:0011360"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin.","id":"HP:0031284","name":"Flushing","obsolete":false,"parents":["HP:0011354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly in the areas surrounding the hair follicles.","id":"HP:0031285","name":"Abnormal perifollicular morphology","obsolete":false,"parents":["HP:0000951"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Redness surrounding the hair follicles.","id":"HP:0031286","name":"Perifollicular erythema","obsolete":false,"parents":["HP:0031285"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A raised growth on the skin of older individuals. The lesion usually is initially light tan and may darken to dark brown or nearly black. The consistent feature of seborrheic keratoses is their waxy, pasted-on or stuck-on look.","id":"HP:0031287","name":"Seborrheic keratosis","obsolete":false,"parents":["HP:0008069"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Basal cell papilloma"},{"scope":"EXACT","text":"Seborrheic verruca"},{"scope":"EXACT","text":"Senile wart"}]} +{"alt_ids":[],"definition":"The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones.","id":"HP:0031288","name":"Cobblestone-like hyperkeratosis","obsolete":false,"parents":["HP:0000962"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A papule with white color.","id":"HP:0031289","name":"White papule","obsolete":false,"parents":["HP:0200034"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes.","id":"HP:0031290","name":"Tuberous xanthoma","obsolete":false,"parents":["HP:0000991"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed.","id":"HP:0031291","name":"Ichthyosis follicularis","obsolete":false,"parents":["HP:0008064"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A circumscribed area of pus or necrotic debris in the skin (within the epidermis or dermis).","id":"HP:0031292","name":"Cutaneous abscess","obsolete":false,"parents":["HP:0011123","HP:0025615"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Skin abscess"}]} +{"alt_ids":[],"definition":"Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe.","id":"HP:0031293","name":"Digital pitting scar","obsolete":false,"parents":["HP:0100276"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdeveloped, small right heart atrium.","id":"HP:0031294","name":"Hypoplastic right atrium","obsolete":false,"parents":["HP:0025580"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increase in size of the left atrium.","id":"HP:0031295","name":"Left atrial enlargement","obsolete":false,"parents":["HP:0025579"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged heart left atrium"}]} +{"alt_ids":[],"definition":"An abnormal increase in the thickness of the atrial septum.","id":"HP:0031296","name":"Atrial septal hypertrophy","obsolete":false,"parents":["HP:0005120"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0031297","name":"obsolete Coronary sinus atrial septal defect","obsolete":true,"parents":[],"replaced_by":["HP:0011643"],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase in size of the coronary sinus.","id":"HP:0031298","name":"Coronary sinus enlargement","obsolete":false,"parents":["HP:0011642"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Coronary sinus dilatation"},{"scope":"EXACT","text":"Enlarged coronary sinus"}]} +{"alt_ids":[],"definition":"An abnormal increase in magnitude of the pressure in the left atrium.","id":"HP:0031299","name":"Elevated left atrial pressure","obsolete":false,"parents":["HP:0025443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of properdin in the blood circulation.","id":"HP:0031300","name":"Abnormal circulating properdin concentration","obsolete":false,"parents":["HP:0025465"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal properdin level"}]} +{"alt_ids":[],"definition":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall.","id":"HP:0031301","name":"Peripheral arterial calcification","obsolete":false,"parents":["HP:0003207"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Peripheral artery calcification"}]} +{"alt_ids":[],"definition":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg.","id":"HP:0031302","name":"Lower extremity peripheral arterial calcification","obsolete":false,"parents":["HP:0031301"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lower extremity peripheral artery calcification"}]} +{"alt_ids":[],"definition":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery.","id":"HP:0031303","name":"Femoral arterial calcification","obsolete":false,"parents":["HP:0031302","HP:0035012"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery.","id":"HP:0031304","name":"Iliac arterial calcification","obsolete":false,"parents":["HP:0031302","HP:4000066"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the tibial artery.","id":"HP:0031305","name":"Tibial arterial calcification","obsolete":false,"parents":["HP:0031302"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial).","id":"HP:0031306","name":"Intracranial arterial calcification","obsolete":false,"parents":["HP:0003207"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the internal carotid artery.","id":"HP:0031307","name":"Internal carotid artery calcification","obsolete":false,"parents":["HP:0031306","HP:0031314"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the vertebral artery.","id":"HP:0031308","name":"Vertebral artery calcification","obsolete":false,"parents":["HP:0030321","HP:0031306"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery.","id":"HP:0031309","name":"Cerebral artery calcification","obsolete":false,"parents":["HP:0031306"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the basilar artery.","id":"HP:0031310","name":"Basilar artery calcification","obsolete":false,"parents":["HP:0031306"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the middle cerebral artery.","id":"HP:0031311","name":"Middle cerebral artery calcification","obsolete":false,"parents":["HP:0031309"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta.","id":"HP:0031313","name":"Abdominal aortic calcification","obsolete":false,"parents":["HP:0004963"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery.","id":"HP:0031314","name":"Carotid artery calcification","obsolete":false,"parents":["HP:0003207"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the external carotid artery.","id":"HP:0031315","name":"External carotid artery calcification","obsolete":false,"parents":["HP:0031314"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle.","id":"HP:0031316","name":"Abnormal ventricular myocardium morphology","obsolete":false,"parents":["HP:0001637"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue.","id":"HP:0031317","name":"Fatty replacement of ventricular myocardial tissue","obsolete":false,"parents":["HP:0001637"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fatty infiltration of cardiac ventricle"},{"scope":"EXACT","text":"Intramyocardial fat infiltration"}]} +{"alt_ids":[],"definition":"A nonparallel arrangement of cardiac myocytes.","id":"HP:0031318","name":"Myofiber disarray","obsolete":false,"parents":["HP:0001637"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Myocardial fiber disarray"},{"scope":"EXACT","text":"Myocardial fibre disarray"}]} +{"alt_ids":[],"definition":"An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes.","id":"HP:0031319","name":"Cardiomyocyte hypertrophy","obsolete":false,"parents":["HP:0031331"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Myocyte cellular hypertrophy"}]} +{"alt_ids":[],"definition":"An abnormal increase in the number of mitochondria per cardiac myocyte.","id":"HP:0031320","name":"Cardiomyocyte mitochondrial proliferation","obsolete":false,"parents":["HP:0031331"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium).","id":"HP:0031321","name":"Myocardial immune cell infiltration","obsolete":false,"parents":["HP:0001637"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in the number of lymphocytes in myocardial tissue.","id":"HP:0031322","name":"Myocardial lymphocytic infiltration","obsolete":false,"parents":["HP:0031321"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in the number of eosinophils in myocardial tissue.","id":"HP:0031323","name":"Myocardial eosinophilic infiltration","obsolete":false,"parents":["HP:0031321"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin.","id":"HP:0031324","name":"Myocardial multinucleated giant cells","obsolete":false,"parents":["HP:0031321"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium.","id":"HP:0031325","name":"Myocardial granulomatous infiltrates","obsolete":false,"parents":["HP:0031321"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry.","id":"HP:0031326","name":"Monoclonal light chain cardiac amyloidosis","obsolete":false,"parents":["HP:0030843"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining.","id":"HP:0031327","name":"Cardiac transthyretin amyloid deposition","obsolete":false,"parents":["HP:0020017","HP:0030843"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"TTR cardiac amyloidosis"},{"scope":"BROAD","text":"Transthyretin cardiac amyloidosis"}]} +{"alt_ids":[],"definition":"A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces.","id":"HP:0031328","name":"Perivascular cardiac fibrosis","obsolete":false,"parents":["HP:0001685","HP:0032200"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.","id":"HP:0031329","name":"Interstitial cardiac fibrosis","obsolete":false,"parents":["HP:0001685"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels.","id":"HP:0031330","name":"Perivascular myocardial immune cell infiltration","obsolete":false,"parents":["HP:0031321"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue.","id":"HP:0031331","name":"Abnormal cardiomyocyte morphology","obsolete":false,"parents":["HP:0001627","HP:0025461"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal cardiac muscle cell morphology"}]} +{"alt_ids":[],"definition":"Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris.","id":"HP:0031332","name":"Cardiomyocyte degeneration","obsolete":false,"parents":["HP:0031331"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes.","id":"HP:0031333","name":"Myocardial sarcomeric disarray","obsolete":false,"parents":["HP:0031331"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cardiac biopsy: myocyte disarray"},{"scope":"EXACT","text":"Cardiomyocyte disarray"},{"scope":"EXACT","text":"Myocardial sarcomere disarray"}]} +{"alt_ids":[],"definition":"Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes.","id":"HP:0031334","name":"Cardiomyocyte inclusion bodies","obsolete":false,"parents":["HP:0031331"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the structure of mitochondria within cardiomyocytes.","id":"HP:0031335","name":"Abnormal cardiomyocyte mitochondrial morphology","obsolete":false,"parents":["HP:0031331"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal localization of mitochondria within the nuclei of cardiomyocytes.","id":"HP:0031336","name":"Intranuclear cardiomyocyte mitochondria","obsolete":false,"parents":["HP:0031335"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases.","id":"HP:0031337","name":"Abnormal cardiomyocyte connexin43 staining","obsolete":false,"parents":["HP:0031331"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes.","id":"HP:0031338","name":"Abnormal cardiomyocyte plakoglobin staining","obsolete":false,"parents":["HP:0031331"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anomalous staining of dystrophin in cardiomyocytes.","id":"HP:0031339","name":"Abnormal cardiomyocyte dystrophin staining","obsolete":false,"parents":["HP:0031331"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids.","id":"HP:0031340","name":"Abnormal lysosomal morphology","obsolete":false,"parents":["HP:0025461"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the stomach.","id":"HP:0031341","name":"Gastric arteriovenous malformation","obsolete":false,"parents":["HP:0002629"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum.","id":"HP:0031342","name":"Duodenal arteriovenous malformation","obsolete":false,"parents":["HP:0002629"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the jejunum.","id":"HP:0031343","name":"Jejunal arteriovenous malformation","obsolete":false,"parents":["HP:0002629"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis.","id":"HP:0031344","name":"Pelvic arteriovenous malformation","obsolete":false,"parents":["HP:0100026"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the colon.","id":"HP:0031345","name":"Colonic arteriovenous malformation","obsolete":false,"parents":["HP:0002629"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum.","id":"HP:0031346","name":"Rectal arteriovenous malformation","obsolete":false,"parents":["HP:0002629"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the uterus.","id":"HP:0031347","name":"Uterine arteriovenous malformation","obsolete":false,"parents":["HP:0100026"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA.","id":"HP:0031348","name":"Dextrotransposition of the great arteries","obsolete":false,"parents":["HP:0001669"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"D-TGA"},{"scope":"EXACT","text":"D-loop transposition of the great arteries"}]} +{"alt_ids":[],"definition":null,"id":"HP:0031349","name":"obsolete Levotransposition of the great arteries","obsolete":true,"parents":[],"replaced_by":["HP:0011540"],"synonyms":[]} +{"alt_ids":[],"definition":"A malignant soft tissue neoplasm that arises from the heart.","id":"HP:0031350","name":"Cardiac sarcoma","obsolete":false,"parents":["HP:0100544"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue.","id":"HP:0031351","name":"Calcified amorphous tumor of the heart","obsolete":false,"parents":["HP:0100544"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Calcified amorphous tumour of the heart"}]} +{"alt_ids":[],"definition":"An unpleasant sensation of tightness or pressure in the chest.","id":"HP:0031352","name":"Chest tightness","obsolete":false,"parents":["HP:0025142"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Chest distress"},{"scope":"EXACT","text":"Tightness in chest"},{"scope":"EXACT","text":"Tightness of chest"}]} +{"alt_ids":[],"definition":"Otitis media characterized by thick or sticky fluid behind the tympanic membrane.","id":"HP:0031353","name":"Otitis media with effusion","obsolete":false,"parents":["HP:0000388"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fluid behind eardrum"},{"scope":"EXACT","text":"Middle ear effusions"},{"scope":"EXACT","text":"OME"}]} +{"alt_ids":[],"definition":"Difficulty initiating sleep, that is, increased sleep onset latency, refers to the condition where it takes 30 minutes or more to fall asleep.","id":"HP:0031354","name":"Sleep onset insomnia","obsolete":false,"parents":["HP:0100785"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Difficulty falling asleep"},{"scope":"EXACT","text":"Early insomnia"},{"scope":"EXACT","text":"Increased sleep latency"},{"scope":"EXACT","text":"Trouble falling asleep"}]} +{"alt_ids":[],"definition":"Individuals affected by abnormal difficulty in staying asleep tend to wake up at night and struggle to return to sleep. This condition typically involves spending more than 30 minutes awake during the night.","id":"HP:0031355","name":"Maintenance insomnia","obsolete":false,"parents":["HP:0100785"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Difficulty staying asleep"},{"scope":"EXACT","text":"Insomnia middle"},{"scope":"EXACT","text":"Middle insomnia"},{"scope":"EXACT","text":"Waking up several times during the night"}]} +{"alt_ids":[],"definition":"Waking up earlier than intended and being unable to return to sleep.","id":"HP:0031356","name":"Terminal insomnia","obsolete":false,"parents":["HP:0100785"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Early morning awakening"},{"scope":"EXACT","text":"Late insomnia"},{"scope":"EXACT","text":"Premature awakening"}]} +{"alt_ids":[],"definition":"A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli.","id":"HP:0031357","name":"Glomeruloid hemangioma","obsolete":false,"parents":["HP:0001028"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The absence of wakefulness and consciousness, but in contrast to a coma, there is involuntary opening of the eyes and movements such as teeth grinding, yawning, or thrashing of the extremities.","id":"HP:0031358","name":"Vegetative state","obsolete":false,"parents":["HP:0004372"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unresponsive wakefulness"}]} +{"alt_ids":[],"definition":"A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening).","id":"HP:0031359","name":"Cutaneous sclerotic plaque","obsolete":false,"parents":["HP:0200035"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color.","id":"HP:0031360","name":"Yellow skin plaque","obsolete":false,"parents":["HP:0200035"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmic inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images.","id":"HP:0031361","name":"Zebra bodies","obsolete":false,"parents":["HP:0031340"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0031362","name":"obsolete Sex-limited autosomal recessive inheritance","obsolete":true,"parents":[],"replaced_by":["HP:0000007"],"synonyms":[]} +{"alt_ids":[],"definition":"A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation).","id":"HP:0031363","name":"Palpable purpura","obsolete":false,"parents":["HP:0000979"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A purpuric lesion that is larger than 1 cm in diameter.","id":"HP:0031364","name":"Ecchymosis","obsolete":false,"parents":["HP:0031365"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ecchymoses"}]} +{"alt_ids":[],"definition":"Purpura that is flat (non-palpable, not raised).","id":"HP:0031365","name":"Macular purpura","obsolete":false,"parents":["HP:0000979"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flat purpura"}]} +{"alt_ids":[],"definition":"A neoplasm that affects the hard palate, soft palate, or uvula.","id":"HP:0031366","name":"Palate neoplasm","obsolete":false,"parents":["HP:0100649"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis).","id":"HP:0031367","name":"Metaphyseal striations","obsolete":false,"parents":["HP:0000944"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Striated metaphysis"}]} +{"alt_ids":[],"definition":"A hole (perforation) in the wall of the intestine.","id":"HP:0031368","name":"Intestinal perforation","obsolete":false,"parents":["HP:0002242"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A hole (perforation) in the wall of the colon.","id":"HP:0031369","name":"Colon perforation","obsolete":false,"parents":["HP:0031368"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Perforation of the colon"}]} +{"alt_ids":[],"definition":"A hole (perforation) in the wall of the small intestine.","id":"HP:0031370","name":"Small intestinal perforation","obsolete":false,"parents":["HP:0031368"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A hole (perforation) in the wall of the rectum.","id":"HP:0031371","name":"Rectal perforation","obsolete":false,"parents":["HP:0031368"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased muscle weakness upon exposure to cold temperatures.","id":"HP:0031372","name":"Cold paresis","obsolete":false,"parents":["HP:0001324"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased rigidity and reduced mobility of the tongue.","id":"HP:0031373","name":"Stiff tongue","obsolete":false,"parents":["HP:0030809"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tongue stiffness"}]} +{"alt_ids":[],"definition":"Reduced strength of the muscles that lift or otherwise move the foot at the ankle.","id":"HP:0031374","name":"Ankle weakness","obsolete":false,"parents":["HP:0001324"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is difficult to treat or cure.","id":"HP:0031375","name":"Refractory","obsolete":false,"parents":["HP:0012823"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population.","id":"HP:0031377","name":"Abnormal cell proliferation","obsolete":false,"parents":["HP:0011017"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population.","id":"HP:0031378","name":"Abnormal lymphocyte proliferation","obsolete":false,"parents":["HP:0031377","HP:0031409"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0030253"],"definition":"Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population.","id":"HP:0031379","name":"Abnormal T cell proliferation","obsolete":false,"parents":["HP:0011840","HP:0031378"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Defective T cell proliferation"}]} +{"alt_ids":[],"definition":"Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population.","id":"HP:0031380","name":"Abnormal B cell proliferation","obsolete":false,"parents":["HP:0031378"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal decrease of T cell proliferation in response to mitogenic stimuli. This is commonly measured through intracellular expression of Ki67, decreasing surface expression of carboxyfluorescein diacetate (CFSE), or 3H-thymidine incorporation. Length of incubation, specific stimulus and strength of stimulation may vary between laboratories.","id":"HP:0031381","name":"Decreased mitogen-induced T-cell proliferation","obsolete":false,"parents":["HP:0031379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased lymphocyte proliferation in response to mitogen"},{"scope":"EXACT","text":"Reduced lymphocyte proliferation to mitogen"}]} +{"alt_ids":[],"definition":"Abnormal decrease of T cell proliferation in response to anti-CD3/28 stimulation. This is commonly measured through intracellular expression of Ki67, decreasing surface expression of carboxyfluorescein diacetate (CFSE), or 3H-thymidine incorporation. Length of incubation and strength of stimulation may vary between laboratories.","id":"HP:0031382","name":"Decreased anti-CD3/28-induced T-cell proliferation","obsolete":false,"parents":["HP:0031381"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased lymphocyte proliferation in response to anti-CD3"},{"scope":"EXACT","text":"Defective lymphocyte proliferation to anti-CD3"},{"scope":"EXACT","text":"Defective proliferation of lymphocytes following anti-CD3 stimulation"}]} +{"alt_ids":[],"definition":"Abnormal amount of a protein that is normally present on the cell surface of lymphocytes.","id":"HP:0031383","name":"Abnormal lymphocyte surface marker expression","obsolete":false,"parents":["HP:0010978"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes.","id":"HP:0031384","name":"Reduced T cell CD40 expression","obsolete":false,"parents":["HP:0031383"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus.","id":"HP:0031385","name":"Megakaryocyte nucleus hypolobulation","obsolete":false,"parents":["HP:0012143"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter.","id":"HP:0031386","name":"Increased micromegakaryocyte count","obsolete":false,"parents":["HP:0012143"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow.","id":"HP:0031387","name":"Increased multinucleated megakaryocyte count","obsolete":false,"parents":["HP:0012143"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus.","id":"HP:0031388","name":"Megakaryocyte nucleus hyperlobulation","obsolete":false,"parents":["HP:0012143"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.","id":"HP:0031389","name":"Abnormal MHC II cell surface expression","obsolete":false,"parents":["HP:6001190"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal human leukocyte antigen class II surface expression"},{"scope":"EXACT","text":"Abnormal major histocompatibility complex class II surface expression"}]} +{"alt_ids":[],"definition":"Expression of major histocompatibility complex class II molecules at the cell surface is below the lower limit of normal.","id":"HP:0031390","name":"Reduced MHC II cell surface expression","obsolete":false,"parents":["HP:0031389"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal HLA class II surface expression"},{"scope":"EXACT","text":"Reduced human leukocyte antigen class II surface expression"}]} +{"alt_ids":[],"definition":"An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface.","id":"HP:0031391","name":"Elevated MHC II cell surface expression","obsolete":false,"parents":["HP:0031389"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0025620","HP:0500263","HP:0500267"],"definition":"Abnormal increase or decrease of any CD4+ T cell subpopulation, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group.","id":"HP:0031392","name":"Abnormal CD4+ T cell subset proportion","obsolete":false,"parents":["HP:0025540"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal CD4+ T cell subset"},{"scope":"EXACT","text":"Abnormal CD4+ T cell subsets"},{"scope":"EXACT","text":"Abnormal helper T cell proportion"},{"scope":"EXACT","text":"Abnormal proportion of CD4+ T cells"},{"scope":"EXACT","text":"Abnormal proportion of CD4-positive T cells"},{"scope":"EXACT","text":"Abnormal proportion of CD4-positive helper T cells"},{"scope":"EXACT","text":"Abnormal proportion of CD4-positive, alpha-beta T cells"},{"scope":"EXACT","text":"Abnormal proportion of circulating T-helper cells"}]} +{"alt_ids":[],"definition":"Abnormal increase or decrease of the absolute number of cytotoxic CD3+CD8+ T cells (measured the absolute count per volume or as percentage of total CD3+ T cells in the blood), compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.","id":"HP:0031393","name":"Abnormal total CD8+ T cell number","obsolete":false,"parents":["HP:0025540"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal proportion of CD8+ T cells"},{"scope":"EXACT","text":"Abnormal proportion of CD8-positive T cells"},{"scope":"EXACT","text":"Abnormal proportion of CD8-positive, alpha-beta T cells"}]} +{"alt_ids":[],"definition":"Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes.","id":"HP:0031394","name":"Abnormal CD4:CD8 ratio","obsolete":false,"parents":["HP:0025540"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality in the proportion of naive T cells relative to the total number of T cells.","id":"HP:0031396","name":"Abnormal naive T cell proportion","obsolete":false,"parents":["HP:0025540"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal proportion of naive T cells"},{"scope":"EXACT","text":"Abnormal proportion of naive thymus-derived, alpha-beta T cells"}]} +{"alt_ids":[],"definition":"An abnormally decreased proportion of naive T cells relative to the total number of T cells.","id":"HP:0031397","name":"Decreased naive T cell proportion","obsolete":false,"parents":["HP:0031396"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased proportion of naive T cells"},{"scope":"EXACT","text":"Decreased proportion of naive thymus-derived, alpha-beta T cells"},{"scope":"EXACT","text":"Reduced proportion of naive T cells"}]} +{"alt_ids":[],"definition":"An abnormally increased proportion of naive T cells relative to the total number of T cells.","id":"HP:0031398","name":"Increased naive T cell proportion","obsolete":false,"parents":["HP:0031396"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated proportion of naive T cells"},{"scope":"EXACT","text":"Increased proportion of naive T cells"},{"scope":"EXACT","text":"Increased proportion of naive thymus-derived, alpha-beta T cells"}]} +{"alt_ids":[],"definition":"Abnormal increase or decrease of double-negative (DN) CD3+CD4-CD8- T cells, measured either as percentage of total CD3+ T cells in the blood, or as absolute number per microliter of blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.","id":"HP:0031399","name":"Abnormal double-negative T cell proportion","obsolete":false,"parents":["HP:0025540"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal CD4-negative, CD8-negative regulatory T cell distribution"},{"scope":"EXACT","text":"Abnormal DN Treg distribution"},{"scope":"EXACT","text":"Abnormal Double negative Treg distribution"},{"scope":"EXACT","text":"Abnormal double-negative regulatory T cell distribution"},{"scope":"EXACT","text":"Abnormal proportion of double-negative regulatory T cell"}]} +{"alt_ids":[],"definition":"Abnormal decrease of double negative (DN) CD3+CD4-CD8- T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.","id":"HP:0031401","name":"Decreased double-negative T cell number","obsolete":false,"parents":["HP:0031399"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced proportion of CD4-negative, CD8-negative T cells"}]} +{"alt_ids":[],"definition":"Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus.","id":"HP:0031402","name":"Decreased antigen-specific T cell proliferation","obsolete":false,"parents":["HP:0031379","HP:0031404"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Antigen-specific T cell proliferation defect"},{"scope":"EXACT","text":"Impaired Ag-specific T cell proliferation"},{"scope":"EXACT","text":"Impaired activated T cell proliferation"},{"scope":"BROAD","text":"Impaired cellular adaptive immune response"},{"scope":"EXACT","text":"Reduced antigen-specific T cell proliferation"}]} +{"alt_ids":[],"definition":"Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors.","id":"HP:0031403","name":"Impaired pathogen-specific CD8 cytoxicity","obsolete":false,"parents":["HP:0031404"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pathogen-specific CD8 cytoxicity defect"}]} +{"alt_ids":[],"definition":"An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).","id":"HP:0031404","name":"Impaired antigen-specific response","obsolete":false,"parents":["HP:0010978"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Impaired adaptive immune response"}]} +{"alt_ids":[],"definition":"A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273].","id":"HP:0031405","name":"Poroma","obsolete":false,"parents":["HP:0012842"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription.","id":"HP:0031406","name":"Abnormal cytokine signaling","obsolete":false,"parents":["HP:0011111"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal cytokine signalling"}]} +{"alt_ids":[],"definition":"A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription.","id":"HP:0031407","name":"Impaired cytokine signaling","obsolete":false,"parents":["HP:0031406"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cytokine signaling defect"},{"scope":"EXACT","text":"Cytokine signalling defect"},{"scope":"EXACT","text":"Impaired cytokine signalling"}]} +{"alt_ids":[],"definition":"An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain).","id":"HP:0031408","name":"Increased CD25+ mast cell proportion","obsolete":false,"parents":["HP:0100494"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly of lymphocyte function.","id":"HP:0031409","name":"Abnormal lymphocyte physiology","obsolete":false,"parents":["HP:0011017","HP:0033796"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells.","id":"HP:0031410","name":"Abnormal distribution of CD56 bright/dim natural killer cells","obsolete":false,"parents":["HP:0500033"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal distribution of CD56 bright/dim NK cells"}]} +{"alt_ids":[],"definition":"Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order.","id":"HP:0031411","name":"Abnormal chromosome morphology","obsolete":false,"parents":["HP:0025461"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0031412","name":"Abnormal telomere morphology","obsolete":false,"parents":["HP:0031411"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur.","id":"HP:0031413","name":"Short telomere length","obsolete":false,"parents":["HP:0031412"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of calcifediol in the blood concentration is above the upper limit of normal.","id":"HP:0031414","name":"Elevated circulating calcifediol concentration","obsolete":false,"parents":["HP:0100511"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High serum 25-hydroxycholecalciferol"},{"scope":"EXACT","text":"High serum calcidiol"},{"scope":"EXACT","text":"High serum calcifediol"}]} +{"alt_ids":["HP:0003152"],"definition":"The concentration of calcitriol in the blood circulation is above the upper limit of normal.","id":"HP:0031415","name":"Elevated circulating calcitriol concentration","obsolete":false,"parents":["HP:0100511"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High serum 1,25-dihydroxycholecalciferol"},{"scope":"EXACT","text":"High serum 1,25-dihydroxyvitamin D3"},{"scope":"EXACT","text":"High serum calcitriol"},{"scope":"EXACT","text":"Increased serum 1,25-dihydroxyvitamin D3"},{"scope":"EXACT","text":"Increased serum calcitriol"}]} +{"alt_ids":[],"definition":"Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose.","id":"HP:0031416","name":"Abnormal nasal mucus secretion","obsolete":false,"parents":["HP:0002795"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased discharge of mucus from the nose.","id":"HP:0031417","name":"Rhinorrhea","obsolete":false,"parents":["HP:0031416"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nasal Discharge"},{"scope":"EXACT","text":"Runny Nose"}]} +{"alt_ids":[],"definition":"Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages.","id":"HP:0031418","name":"Increased body mass index","obsolete":false,"parents":["HP:0045081"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased BMI"}]} +{"alt_ids":[],"definition":"The concentration of sex hormone-binding globulin in the blood circulation is below the lower limit of normal.","id":"HP:0031419","name":"Decreased circulating sex hormone-binding globulin concentration","obsolete":false,"parents":["HP:0031438"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased sex hormone-binding globulin concentration"},{"scope":"EXACT","text":"Decreased sex hormone-binding globulin level"},{"scope":"EXACT","text":"Decreased sex hormone-binding globulin level in blood"},{"scope":"EXACT","text":"Reduced androgen-binding protein level"},{"scope":"EXACT","text":"Reduced sex hormone-binding globulin concentration"},{"scope":"EXACT","text":"Reduced sex hormone-binding globulin level"},{"scope":"EXACT","text":"Reduced sex hormone-binding globulin level in blood"}]} +{"alt_ids":[],"definition":"A lesion that is observed acutely following light damage to the macula, typically smaller than 200 micrometers. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Such lesions can also be laser-induced.","id":"HP:0031420","name":"Small yellow/white macular lesion","obsolete":false,"parents":["HP:0030500"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Laser pointer-induced maculopathy"},{"scope":"RELATED","text":"Laser pointer-induced retinopathy"},{"scope":"RELATED","text":"Light induced retinopathy"},{"scope":"RELATED","text":"Photic retinopathy"},{"scope":"EXACT","text":"Small yellow foveal lesion with surrounding gray zone"},{"scope":"EXACT","text":"Small yellow foveal lesion with surrounding grey zone"},{"scope":"RELATED","text":"Solar retinitis"},{"scope":"RELATED","text":"Solar retinopathy"}]} +{"alt_ids":[],"definition":"Reduced size of the superior frontal portion of the cerebral cortex.","id":"HP:0031421","name":"Small superior frontal cortex","obsolete":false,"parents":["HP:0002472"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the cortex of the cerebellum.","id":"HP:0031422","name":"Abnormal cerebellar cortex morphology","obsolete":false,"parents":["HP:0001317"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal morphology of the cerebellar cortex"}]} +{"alt_ids":[],"definition":"Reduced size of the cerebellar cortex.","id":"HP:0031423","name":"Small cerebellar cortex","obsolete":false,"parents":["HP:0031422"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of beta-CTX (= beta-C-terminal telopeptide, = beta-C-terminal telopeptide of type I collagen) in the blood circulation.","id":"HP:0031424","name":"Abnormal circulating beta-CTX concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal circulating beta-C-terminal telopeptide level"},{"scope":"EXACT","text":"Abnormal circulating beta-CTx level"},{"scope":"EXACT","text":"Abnormal circulating beta-CrossLaps level"}]} +{"alt_ids":[],"definition":"The concentration of beta-CTX (= beta-C-terminal telopeptide, = beta-C-terminal telopeptide of type I collagen) in the blood circulation is above the upper limit of normal.","id":"HP:0031425","name":"Elevated circulating beta-CTX concentration","obsolete":false,"parents":["HP:0031424"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased circulating beta-C-terminal telopeptide level"},{"scope":"EXACT","text":"Increased circulating beta-CTx level"},{"scope":"EXACT","text":"Increased circulating beta-CrossLaps level"}]} +{"alt_ids":[],"definition":"The concentration of beta-CTX (= beta-C-terminal telopeptide, = beta-C-terminal telopeptide of type I collagen) in the blood circulation is below the lower limit of normal.","id":"HP:0031426","name":"Decreased circulating beta-CTX concentration","obsolete":false,"parents":["HP:0031424"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating beta-C-terminal telopeptide level"},{"scope":"EXACT","text":"Decreased circulating beta-CTx level"},{"scope":"EXACT","text":"Decreased circulating beta-CrossLaps level"}]} +{"alt_ids":[],"definition":"A deviation from the normal concentration of osteocalcin in the blood circulation.","id":"HP:0031427","name":"Abnormal circulating osteocalcin level","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevated level of osteocalcin in the blood.","id":"HP:0031428","name":"Increased circulating osteocalcin level","obsolete":false,"parents":["HP:0031427"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced level of osteocalcin in the blood.","id":"HP:0031429","name":"Decreased circulating osteocalcin level","obsolete":false,"parents":["HP:0031427"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones.","id":"HP:0031430","name":"Oligoclonal T cell expansion","obsolete":false,"parents":["HP:0025845"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Repetition of sounds with no meaning.","id":"HP:0031431","name":"Persistent repetition of sounds","obsolete":false,"parents":["HP:4000072"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A broad range of compulsive behaviors are repeated, including simple motor stereotypies and tics, as well as more complex repetitive movements or compulsions.","id":"HP:0031432","name":"Restricted or repetitive behaviors or interests","obsolete":false,"parents":["HP:5200241"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:5200122"],"definition":"Alexithymia is characterized by an impaired ability to be aware of, explicitly identify, and describe one's feelings.","id":"HP:0031433","name":"Alexithymia","obsolete":false,"parents":["HP:0012760"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unaware of others' emotions"}]} +{"alt_ids":[],"definition":"Prosody refers to the patterns of rhythm, stress, and intonation in spoken language. Abnormal prosody refers to abnormalities in the patterns of rhythm, stress, or intonation of speech or vocalization that can be heard by the observer. In general, this refers to overt and clear deviations in patterns from culturally accepted norms but many also include differences noted in comparison to the usual patterns of the individual (a quiet person suddenly becomes loud or vice versa).","id":"HP:0031434","name":"Abnormal prosody","obsolete":false,"parents":["HP:0002167"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A speech pattern characterized by a persistently abnormal lack of tone in the voice. Monotonic speech is typically ongoing, lasting throughout the day, but may have a diurnal variation in the pattern, i.e. slower at specific times of the day.","id":"HP:0031435","name":"Monotonic speech","obsolete":false,"parents":["HP:5200010"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flat speech"}]} +{"alt_ids":[],"definition":"A speech pattern characterized by abnormal fluctuations in the pitch of the voice.","id":"HP:0031436","name":"Singsong Intonation","obsolete":false,"parents":["HP:5200010"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Melodic speech"},{"scope":"EXACT","text":"Sing song intonation"},{"scope":"EXACT","text":"Sing-song intonation"}]} +{"alt_ids":[],"definition":"Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants.","id":"HP:0031437","name":"Pregnancy exposure","obsolete":false,"parents":["HP:0002686"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Exposure during pregnancy"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of sex hormone-binding globulin in the blood circulation.","id":"HP:0031438","name":"Abnormal circulating sex hormone-binding globulin concentration","obsolete":false,"parents":["HP:0025465"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal sex hormone-binding globulin level"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of angiostatin in the blood circulation.","id":"HP:0031439","name":"Abnormal circulating angiostatin concentration","obsolete":false,"parents":["HP:0025465"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0031440","name":"obsolete Abnormal tricuspid valve morphology","obsolete":true,"parents":[],"replaced_by":["HP:0001702"],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.","id":"HP:0031441","name":"Abnormal tricuspid valve annulus morphology","obsolete":false,"parents":["HP:0001702"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve.","id":"HP:0031442","name":"Abnormal tricuspid chordae tendinae morphology","obsolete":false,"parents":["HP:0001702"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve.","id":"HP:0031443","name":"Abnormal tricuspid valve leaflet morphology","obsolete":false,"parents":["HP:0001702"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in the diameter of the ring (annulus) of the tricuspid valve.","id":"HP:0031444","name":"Dilatation of the tricuspid annulus","obsolete":false,"parents":["HP:0031441"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A palpable, solid lesion greater than 5mm in diameter that is located in the mucosa of the mouth.","id":"HP:0031445","name":"Oral mucosa nodule","obsolete":false,"parents":["HP:0011830"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion.","id":"HP:0031446","name":"Erosion of oral mucosa","obsolete":false,"parents":["HP:0011830"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Multiple pigmented macules located on the skin of the penis.","id":"HP:0031447","name":"Penile freckling","obsolete":false,"parents":["HP:0000036"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles.","id":"HP:0031448","name":"Herpetiform vesicles","obsolete":false,"parents":["HP:0200037"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals.","id":"HP:0031449","name":"Perineal hemangioma","obsolete":false,"parents":["HP:0001028"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A distribution of skin lesions resembling multiple merged circles. For instance, this can be seen with multiple urticarial wheals as the individual, circular wheals resolve and merge.","id":"HP:0031450","name":"Polycyclic","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal increase in the amount of subcutaneous fat in the legs.","id":"HP:0031451","name":"Lower extremity subcutanous fat hypertrophy","obsolete":false,"parents":["HP:0009124"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Multiple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques.","id":"HP:0031452","name":"Lichenoid skin lesion","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Multiple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions.","id":"HP:0031453","name":"Oral lichenoid lesion","obsolete":false,"parents":["HP:0011830"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A cystic lesions that forms a benign tumor of an apocrine sweat gland.","id":"HP:0031454","name":"Apocrine hidrocystoma","obsolete":false,"parents":["HP:0012842"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A gangioleneuroma originating from sympathetic ganglion cells in the abdomen.","id":"HP:0031455","name":"Presacral ganglioneuroma","obsolete":false,"parents":["HP:0003005"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube).","id":"HP:0031456","name":"Ectopic pregnancy","obsolete":false,"parents":["HP:0002686"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality.","id":"HP:0031457","name":"Pulmonary opacity","obsolete":false,"parents":["HP:0031983"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An inflammation of the adenoid tissue.","id":"HP:0031458","name":"Adenoiditis","obsolete":false,"parents":["HP:3000033"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms.","id":"HP:0031459","name":"Soft tissue neoplasm","obsolete":false,"parents":["HP:0011793"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882].","id":"HP:0031460","name":"Benign muscle neoplasm","obsolete":false,"parents":["HP:0031459"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy.","id":"HP:0031461","name":"Intramuscular myxoma","obsolete":false,"parents":["HP:0031460"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"IM Myxoma"}]} +{"alt_ids":[],"definition":"Abnormal reduction in length of a tendon which tends to pull (retract) the attached muscle tissue with shortening of the muscle fibers often accompanied by atrophy and fatty degeneration of the affected muscle tissue.","id":"HP:0031462","name":"Musculotendinous retraction","obsolete":false,"parents":["HP:0003549"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A rare benign epithelial tumor that is usually asymptomatic but can present with pyrosis and epigastric discomfort with or without dysphagia. Histopathologically, esophageal squamous papilloma has fingerlike projections lined with acanthotic stratified squamous epithelium with conservation of normal cellular with or without cellular atypia.","id":"HP:0031463","name":"Esophageal squamous papilloma","obsolete":false,"parents":["HP:0100751"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.","id":"HP:0031464","name":"Genital blistering","obsolete":false,"parents":["HP:0033800"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products.","id":"HP:0031465","name":"Abnormal vasa vasorum morphology","obsolete":false,"parents":["HP:0033353"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning.","id":"HP:0031466","name":"Impairment in personality functioning","obsolete":false,"parents":["HP:0000708"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An emotional state characterized by excessive, persistent, or contextually inappropriate negative inner experiences involving emotional arousal and valence. These experiences are often associated with negative perceptions of the self, the future, the past, or the surrounding environment, and may include affective bias such as interpreting neutral or ambiguous stimuli as negative. The intensity, duration, or impact of the state exceeds what would be expected for the individual based on their baseline emotional functioning, the context, cultural norms, or situational triggers, or when it persists despite efforts at self-regulation.","id":"HP:0031467","name":"Dysregulated negative emotional state","obsolete":false,"parents":["HP:0100851"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Feeling bad"},{"scope":"EXACT","text":"Feeling out of sorts"},{"scope":"EXACT","text":"Foul mood"},{"scope":"EXACT","text":"Gloomy mood"},{"scope":"EXACT","text":"In a funk"},{"scope":"BROAD","text":"Mood dysregulation"},{"scope":"EXACT","text":"Negative attitude"}]} +{"alt_ids":[],"definition":"Fears of rejection by and/or separation from significant others are associated with fears of excessive dependency and complete loss of autonomy.","id":"HP:0031468","name":"Separation insecurity","obsolete":false,"parents":["HP:0000739"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Persistent, excessively negative, and critical thoughts of one's personal abilities, attributes, or any feature related to the self and self-attitude. The affected individual believes they are a lesser being compared to others in their social peer group.","id":"HP:0031469","name":"Low self-esteem","obsolete":false,"parents":["HP:5200242"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Worthlessness"}]} +{"alt_ids":[],"definition":"Engaging in dangerous, risky, and potentially self-damaging activities, without considering the consequences, and include physical, health-related, and financial behaviors. It involves a disregard for one's limitations and a denial of personal danger. While consequences may not occur, the risks are high (e.g. driving too fast, unprotected casual sex, or risky investments).","id":"HP:0031472","name":"Risky behavior","obsolete":false,"parents":["HP:0000734"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A state of excessive negative emotional reactivity characterized by strong feelings of hostility or antagonism typically in response to perceived provocation. It is often accompanied by physiological arousal (e.g., increased heart rate, muscle tension, or activation of the sympathetic nervous system) and expressions of blame, perceived injustice, or judgment. The experience of anger may be directed outwardly toward individuals, groups, objects, or abstract entities, or inwardly toward oneself.","id":"HP:0031473","name":"Anger","obsolete":false,"parents":["HP:0031467"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Boiling mad"},{"scope":"NARROW","text":"Explosive temper"},{"scope":"BROAD","text":"Extreme hostility"},{"scope":"BROAD","text":"Furious"},{"scope":"BROAD","text":"Fury"},{"scope":"EXACT","text":"Hostile"},{"scope":"NARROW","text":"Hostile outbursts"},{"scope":"EXACT","text":"Hostility"},{"scope":"EXACT","text":"Pissed off"},{"scope":"NARROW","text":"Prolonged resentment"},{"scope":"BROAD","text":"Rage"},{"scope":"NARROW","text":"Resentment"},{"scope":"BROAD","text":"Unmanaged hostility"},{"scope":"BROAD","text":"Wrath"}]} +{"alt_ids":[],"definition":"A benign cartilaginous tumors of the lung.","id":"HP:0031474","name":"Pulmonary chondroma","obsolete":false,"parents":["HP:0100526"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma.","id":"HP:0031475","name":"Status epilepticus without prominent motor symptoms","obsolete":false,"parents":["HP:0002133"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nonconvulsive status epilepticus"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells).","id":"HP:0031476","name":"Abnormal buccal mucosa cell morphology","obsolete":false,"parents":["HP:0025461"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0031477","name":"obsolete Abnormal mitral valve morphology","obsolete":true,"parents":[],"replaced_by":["HP:0001633"],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.","id":"HP:0031478","name":"Abnormal mitral valve annulus morphology","obsolete":false,"parents":["HP:0001633"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in the diameter of the ring (annulus) of the mitral valve.","id":"HP:0031479","name":"Dilatation of the mitral annulus","obsolete":false,"parents":["HP:0001633"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the leaflets (also known as cusps) of the mitral valve.","id":"HP:0031480","name":"Abnormal mitral valve leaflet morphology","obsolete":false,"parents":["HP:0001633"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any functional anomaly of the mitral valve.","id":"HP:0031481","name":"Abnormal mitral valve physiology","obsolete":false,"parents":["HP:0031650"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle.","id":"HP:0031482","name":"Abnormal regional left ventricular contraction","obsolete":false,"parents":["HP:0005162"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography.","id":"HP:0031483","name":"Reduced contraction of the left ventricular apex","obsolete":false,"parents":["HP:0031482"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Left ventricular apical hypokinesis"}]} +{"alt_ids":[],"definition":"A form of hemolytic anemia that can be triggered by cold temperatures.","id":"HP:0031484","name":"Cold-induced hemolysis","obsolete":false,"parents":["HP:0001878"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The formation of new bone along the cortex and underneath the periosteum of a bone.","id":"HP:0031485","name":"Subperiosteal bone formation","obsolete":false,"parents":["HP:0030313"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Periosteal reaction"}]} +{"alt_ids":[],"definition":"An anomaly of blood vessels located in the lip.","id":"HP:0031486","name":"Vascular malformation of the lip","obsolete":false,"parents":["HP:0000159"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A vascular malformation located in the lip that is characterized by ectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis.","id":"HP:0031487","name":"Capillary malformation of the lip","obsolete":false,"parents":["HP:0031486"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus.","id":"HP:0031488","name":"Arteriovenous malformation of the lip","obsolete":false,"parents":["HP:0031486"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atypical connection between arteries and veins"}]} +{"alt_ids":[],"definition":"A vascular malformation located in the lip that is related to abnormal vascular morphogenesis.","id":"HP:0031489","name":"Venous malformation of the lip","obsolete":false,"parents":["HP:0031486"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia.","id":"HP:0031490","name":"Hemangioma of the lip","obsolete":false,"parents":["HP:0001028","HP:0031486"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep.","id":"HP:0031491","name":"Continuous spike and waves during slow sleep","obsolete":false,"parents":["HP:0025373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CSWS"},{"scope":"EXACT","text":"Electrical status epilepticus during slow-wave sleep"}]} +{"alt_ids":[],"definition":"A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas [NCIT:C3709].","id":"HP:0031492","name":"Epithelial neoplasm","obsolete":false,"parents":["HP:0011792"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tumor that arises from a gland cell.","id":"HP:0031493","name":"Glandular cell neoplasm","obsolete":false,"parents":["HP:0031492"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma.","id":"HP:0031494","name":"Ovarian mucinous tumor","obsolete":false,"parents":["HP:0031495"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mucinous neoplasm of the ovary"},{"scope":"EXACT","text":"Ovarian mucinous tumour"}]} +{"alt_ids":[],"definition":null,"id":"HP:0031495","name":"Mucinous neoplasm","obsolete":false,"parents":["HP:0031493"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma.","id":"HP:0031496","name":"Mucinous cystic neoplasm of the pancreas","obsolete":false,"parents":["HP:0031495"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A subtype of colorectal carcinoma with mucin lakes.","id":"HP:0031497","name":"Mucinous colorectal carcinoma","obsolete":false,"parents":["HP:0031495"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor.","id":"HP:0031498","name":"Mucinous gastric carcinoma","obsolete":false,"parents":["HP:0031495"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles.","id":"HP:0031499","name":"Appendiceal mucinous neoplasm","obsolete":false,"parents":["HP:0031495"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal enlargement or swelling in the abdomen.","id":"HP:0031500","name":"Abdominal mass","obsolete":false,"parents":["HP:0001438"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal enlargement or swelling in the pelvic region.","id":"HP:0031501","name":"Pelvic mass","obsolete":false,"parents":["HP:0001438"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422].","id":"HP:0031502","name":"Trophoblastic tumor","obsolete":false,"parents":["HP:0100728"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Trophoblastic tumour"}]} +{"alt_ids":[],"definition":"Waking up at night gasping for breath.","id":"HP:0031503","name":"Night gasping","obsolete":false,"parents":["HP:0002793"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Urine has an increased amount of frothy fine bubbles.","id":"HP:0031504","name":"Foamy urine","obsolete":false,"parents":["HP:0033072"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Frothy urine"}]} +{"alt_ids":[],"definition":"A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).","id":"HP:0031505","name":"Abnormal circulating T4 concentration","obsolete":false,"parents":["HP:0031508"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal circulating T4 level"},{"scope":"EXACT","text":"Abnormal circulating thyroxine level"}]} +{"alt_ids":[],"definition":"An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).","id":"HP:0031506","name":"Increased circulating T4 concentration","obsolete":false,"parents":["HP:0031505"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased circulating T4 level"},{"scope":"EXACT","text":"Increased circulating thyroxine level"}]} +{"alt_ids":[],"definition":"A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).","id":"HP:0031507","name":"Decreased circulating T4 concentration","obsolete":false,"parents":["HP:0031505"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating T4 level"},{"scope":"EXACT","text":"Decreased circulating thyroxine level"},{"scope":"EXACT","text":"Reduced T4 plasma level"}]} +{"alt_ids":[],"definition":"Any deviation from the normal range of the hormones produced by the thyroid gland.","id":"HP:0031508","name":"Abnormal circulating thyroid hormone concentration","obsolete":false,"parents":["HP:0002926","HP:0003117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal thyroid hormone level"}]} +{"alt_ids":[],"definition":"Abnormally dry skin in the area of the nipple of the breast.","id":"HP:0031509","name":"Dry nipple","obsolete":false,"parents":["HP:0004404"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A transverse linear fissure (crease) in the lobule of the ear.","id":"HP:0031510","name":"Linear earlobe crease","obsolete":false,"parents":["HP:0000363"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees.","id":"HP:0031511","name":"Diagonal earlobe crease","obsolete":false,"parents":["HP:0000363"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0031512","name":"Abnormal cutaneous collagen fibril morphology","obsolete":false,"parents":["HP:0011121"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands.","id":"HP:0031513","name":"Luse bodies","obsolete":false,"parents":["HP:0031512"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells.","id":"HP:0031514","name":"Increased exhausted T cell proportion","obsolete":false,"parents":["HP:0041080"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells.","id":"HP:0031515","name":"Abnormal meiosis","obsolete":false,"parents":["HP:0033337"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage.","id":"HP:0031516","name":"Metaphase I oocyte maturation arrest","obsolete":false,"parents":["HP:0034914"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Metaphase I oocyte meiotic arrest"},{"scope":"EXACT","text":"Oocyte arrest at metaphase I"},{"scope":"EXACT","text":"Oocyte meiotic arrest at metaphase I"}]} +{"alt_ids":[],"definition":"A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms.","id":"HP:0031517","name":"Verruciform xanthoma","obsolete":false,"parents":["HP:0000991"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above.","id":"HP:0031518","name":"Absent posterior alpha rhythm","obsolete":false,"parents":["HP:0025373"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy.","id":"HP:0031519","name":"Cauliflower deformity of dermal collagen fibrils","obsolete":false,"parents":["HP:0031512"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region.","id":"HP:0031520","name":"Groin pain","obsolete":false,"parents":["HP:0012531"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm.","id":"HP:0031521","name":"Vaginal clear cell adenocarcinoma","obsolete":false,"parents":["HP:0100650"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Clear cell adenocarcinoma of the vagina"}]} +{"alt_ids":[],"definition":"A type of adenocarcinoma originating in the cervix and characterized by large cells with moderate to abundant clear cytoplasm.","id":"HP:0031522","name":"Cervical clear cell adenocarcinoma","obsolete":false,"parents":["HP:0100650"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Clear cell carcinoma of cervix"}]} +{"alt_ids":[],"definition":"A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria)","id":"HP:0031523","name":"Salivary gland oncocytoma","obsolete":false,"parents":["HP:0100684"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Parotid oncocytoma"}]} +{"alt_ids":[],"definition":"A carcinoma originating in the ampulla of Vater (also known as the hepatopancreatic duct), which is formed by the union of the pancreatic duct and the common bile duct.","id":"HP:0031524","name":"Ampulla of Vater carcinoma","obsolete":false,"parents":["HP:0007378"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Keratoacanthoma (KA) is a common benign epithelial tumor that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals.","id":"HP:0031525","name":"Keratoacanthoma","obsolete":false,"parents":["HP:0008069"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fluid accumulating between the neuroretina and retinal pigment epithelium.","id":"HP:0031526","name":"Subretinal fluid","obsolete":false,"parents":["HP:0000479"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sub-retinal fluid"}]} +{"alt_ids":[],"definition":"Accumulation of fluid within the layers of the retina not limited to the macular region.","id":"HP:0031527","name":"Retinal edema","obsolete":false,"parents":["HP:0000479"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intra-retinal fluid"},{"scope":"EXACT","text":"Intraretinal fluid"}]} +{"alt_ids":["HP:0031529","HP:0031530"],"definition":"Deposits accumulating between the outer retina and the retinal pigment epithelium.","id":"HP:0031528","name":"Subretinal deposits","obsolete":false,"parents":["HP:0000479"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0031529","name":"obsolete Focal subretinal deposits","obsolete":true,"parents":[],"replaced_by":["HP:0031528"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0031530","name":"obsolete Multifocal subretinal deposits","obsolete":true,"parents":[],"replaced_by":["HP:0031528"],"synonyms":[]} +{"alt_ids":["HP:0031532","HP:0031533"],"definition":"Deposits accumulating between the retinal pigment epithelium (RPE) and Bruch's membrane.","id":"HP:0031531","name":"Sub-RPE deposits","obsolete":false,"parents":["HP:0000479"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0031532","name":"obsolete Focal sub-RPE deposits","obsolete":true,"parents":[],"replaced_by":["HP:0031531"],"synonyms":[]} +{"alt_ids":[],"definition":"Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci.","id":"HP:0031533","name":"obsolete Multifocal sub-RPE deposits","obsolete":true,"parents":[],"replaced_by":["HP:0031531"],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal.","id":"HP:0031534","name":"Passive dorsiflexion of the 5th finger more than 90 degrees","obsolete":false,"parents":["HP:0004207"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution.","id":"HP:0031535","name":"Increased theta frequency activity in EEG","obsolete":false,"parents":["HP:0025373"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA).","id":"HP:0031536","name":"Separate origin of the left anterior descending and left circumflex artery","obsolete":false,"parents":["HP:0011636"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA).","id":"HP:0031537","name":"Anomalous origin of the left circumflex artery from the right coronary artery","obsolete":false,"parents":["HP:0025505"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments.","id":"HP:0031538","name":"Abnormal dermoepidermal junction morphology","obsolete":false,"parents":["HP:0011121"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of IgA antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.","id":"HP:0031539","name":"Linear IgA deposits along the epidermal basement membrane zone","obsolete":false,"parents":["HP:0031538"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.","id":"HP:0031540","name":"Linear IgG deposits along the epidermal basement membrane zone","obsolete":false,"parents":["HP:0031538"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.","id":"HP:0031541","name":"Linear C3 deposits along the epidermal basement membrane zone","obsolete":false,"parents":["HP:0031538"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner.","id":"HP:0031542","name":"Myelin-like whorls in vacuolated fibers","obsolete":false,"parents":["HP:0004303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Myelin-like whorls in vacuolated fibres"}]} +{"alt_ids":["HP:0033463"],"definition":"The concentration palmitoleylcarnitine (hexadecenoylcarnitine or C16:1) in the blood circulation is above the upper limit of normal.","id":"HP:0031544","name":"Elevated circulating palmitoleylcarnitine concentration","obsolete":false,"parents":["HP:0035021"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated plasma palmitoleylcarnitine, C16:1"}]} +{"alt_ids":[],"definition":"Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells.","id":"HP:0031545","name":"Abnormally low T cell receptor excision circle level","obsolete":false,"parents":["HP:0025540"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly of the progression of electrical impulses through the heart.","id":"HP:0031546","name":"Cardiac conduction abnormality","obsolete":false,"parents":["HP:0030956"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of cardiac conduction"},{"scope":"EXACT","text":"Abnormality of cardiac conduction system"},{"scope":"EXACT","text":"Cardiac conduction abnormalities"},{"scope":"EXACT","text":"Cardiac conduction defects"},{"scope":"EXACT","text":"Heart conduction disorder"}]} +{"alt_ids":[],"definition":"Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).","id":"HP:0031547","name":"Abnormal QT interval","obsolete":false,"parents":["HP:0003115"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A cutaneous adnexal neoplasm with variable clinical presentation. It tends to be located in the head and neck and the presentation is papulonodular, scaly, asymptomatic, measuring up to 1-2cm, simulating a basal cell carcinoma.","id":"HP:0031548","name":"Follicular infundibulum tumor","obsolete":false,"parents":["HP:0012842"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Basal cell hamartoma with follicular differentiation"},{"scope":"EXACT","text":"Follicular infundibulum tumour"}]} +{"alt_ids":[],"definition":"Lymphocytoma cutis, or Spiegler-Fendt sarcoid, is classed as one of the pseudolymphomas, referring to inflammatory disorders in which the accumulation of lymphocytes on the skin resemble, clinically and histopathologically, cutaneous lymphomas. Careful clinical evaluation, histopathological and immunohistochemical exams may be needed to make the correct diagnosis.","id":"HP:0031549","name":"Lymphocytoma cutis","obsolete":false,"parents":["HP:0008069"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Skin pseudolymphoma"},{"scope":"EXACT","text":"Spiegler-Fendt sarcoid"}]} +{"alt_ids":[],"definition":"Any abnormal result of flow cytometry, a method that suspends cells in a stream of fluid and passes them through an electronic detection apparatus in order to assess cell count or measure biomarkers or surface molecules.","id":"HP:0031550","name":"Abnormal flow cytometry test result","obsolete":false,"parents":["HP:0025354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry.","id":"HP:0031551","name":"Reduced cell surface marker level","obsolete":false,"parents":["HP:0031550"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry.","id":"HP:0031552","name":"Reduced fibroblast surface marker level","obsolete":false,"parents":["HP:0031551"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry.","id":"HP:0031553","name":"Reduced granulocyte surface marker level","obsolete":false,"parents":["HP:0031551"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry.","id":"HP:0031554","name":"Reduced granulocyte CD55 level","obsolete":false,"parents":["HP:0031553"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry.","id":"HP:0031555","name":"Reduced granulocyte CD59 level","obsolete":false,"parents":["HP:0031553"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry.","id":"HP:0031556","name":"Reduced granulocyte CD16 level","obsolete":false,"parents":["HP:0031553"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry.","id":"HP:0031557","name":"Reduced fibroblast CD55 level","obsolete":false,"parents":["HP:0031552"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry.","id":"HP:0031558","name":"Reduced fibroblast CD59 level","obsolete":false,"parents":["HP:0031552"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry.","id":"HP:0031559","name":"Reduced fibroblast CD16 level","obsolete":false,"parents":["HP:0031552"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal communication between coronary artery and a cardiac chamber.","id":"HP:0031560","name":"Coronary cameral fistula","obsolete":false,"parents":["HP:0011641"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle.","id":"HP:0031561","name":"Coronary cameral fistula to right ventricle","obsolete":false,"parents":["HP:0031560"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch.","id":"HP:0031562","name":"Balanced double aortic arch","obsolete":false,"parents":["HP:0011590"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation.","id":"HP:0031563","name":"Coronary arteriovenous fistula","obsolete":false,"parents":["HP:0011641"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism).","id":"HP:0031564","name":"Bronchial isomerism","obsolete":false,"parents":["HP:0031853"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements.","id":"HP:0031565","name":"Abdominal situs ambiguus","obsolete":false,"parents":["HP:0011620"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the pulmonary valve leaflets.","id":"HP:0031566","name":"Abnormal pulmonary valve cusp morphology","obsolete":false,"parents":["HP:0001641"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the aortic valve leaflets.","id":"HP:0031567","name":"Abnormal aortic valve cusp morphology","obsolete":false,"parents":["HP:0001646"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased thickness of a leaflet of the aortic valve.","id":"HP:0031568","name":"Thickened aortic valve cusp","obsolete":false,"parents":["HP:0031567"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva.","id":"HP:0031569","name":"Absent aortic valve cusps","obsolete":false,"parents":["HP:0031567"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent aortic valve"}]} +{"alt_ids":[],"definition":"A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension.","id":"HP:0031570","name":"Tessier number 0 facial cleft","obsolete":false,"parents":["HP:0100629"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tessier facial cleft number 0"}]} +{"alt_ids":[],"definition":"A type of facial cleft located near to but not directly on the midline of the face.","id":"HP:0031571","name":"Paramedian facial cleft","obsolete":false,"parents":["HP:0002006"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly.","id":"HP:0031572","name":"Tessier number 1 facial cleft","obsolete":false,"parents":["HP:0031571"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening.","id":"HP:0031573","name":"Tessier number 2 facial cleft","obsolete":false,"parents":["HP:0031571"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A facial cleft characterized by involvement of the orbit.","id":"HP:0031574","name":"Orbital cleft","obsolete":false,"parents":["HP:0002006"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced.","id":"HP:0031575","name":"Tessier number 3 facial cleft","obsolete":false,"parents":["HP:0031574"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly.","id":"HP:0031576","name":"Tessier number 4 facial cleft","obsolete":false,"parents":["HP:0031574"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium.","id":"HP:0031577","name":"Tessier number 5 facial cleft","obsolete":false,"parents":["HP:0031574"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid.","id":"HP:0031578","name":"Tessier number 6 facial cleft","obsolete":false,"parents":["HP:0100731"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tessier facial cleft number 6"}]} +{"alt_ids":[],"definition":"The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate.","id":"HP:0031579","name":"Tessier number 7 facial cleft","obsolete":false,"parents":["HP:0100731"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tessier cleft number 7"},{"scope":"EXACT","text":"Tessier facial cleft number 7"}]} +{"alt_ids":[],"definition":"The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae.","id":"HP:0031580","name":"Tessier number 8 facial cleft","obsolete":false,"parents":["HP:0100731"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tessier facial cleft number 8"}]} +{"alt_ids":[],"definition":"This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa.","id":"HP:0031581","name":"Tessier number 9 facial cleft","obsolete":false,"parents":["HP:0031574"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric.","id":"HP:0031582","name":"Tessier number 10 facial cleft","obsolete":false,"parents":["HP:0031574"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal.","id":"HP:0031583","name":"Tessier number 11 facial cleft","obsolete":false,"parents":["HP:0031574"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in transverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate.","id":"HP:0031584","name":"Tessier number 12 facial cleft","obsolete":false,"parents":["HP:0031571"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above.","id":"HP:0031585","name":"Tessier number 13 facial cleft","obsolete":false,"parents":["HP:0031571"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan.","id":"HP:0031586","name":"Tessier number 14 facial cleft","obsolete":false,"parents":["HP:0100629"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tessier facial cleft number 14"}]} +{"alt_ids":[],"definition":"A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis.","id":"HP:0031587","name":"Tessier number 30 facial cleft","obsolete":false,"parents":["HP:0100629"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A noticeably unhappy disposition is characterized by negative assumptions, self-defeating talk, fear of failure, and negative rumination about past events.","id":"HP:0031588","name":"Unhappy demeanor","obsolete":false,"parents":["HP:5200261"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unhappy demeanour"}]} +{"alt_ids":[],"definition":"Frequent thoughts about or preoccupation with killing oneself.","id":"HP:0031589","name":"Suicidal ideation","obsolete":false,"parents":["HP:0025785"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Suicidal perseveration"},{"scope":"RELATED","text":"Suicidal thoughts"},{"scope":"EXACT","text":"Suicidality"}]} +{"alt_ids":[],"definition":"Eye strain, i.e., a feeling of fatigue or discomfort of the eyes related to 'overuse' of the eyes in activities such as reading or working at the computer and often accompanied by lacrimation or headache.","id":"HP:0031590","name":"Asthenopia","obsolete":false,"parents":["HP:0012373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eye strain"}]} +{"alt_ids":[],"definition":"An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava.","id":"HP:0031591","name":"Enlarged Eustachian valve","obsolete":false,"parents":["HP:0025576"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged inferior vena cava valve"},{"scope":"NARROW","text":"Giant Eustachian valve"}]} +{"alt_ids":[],"definition":"Situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia.","id":"HP:0031592","name":"Situs inversus with levocardia","obsolete":false,"parents":["HP:0011534"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the PR interval, which is the portion of the ECG from the onset of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds.","id":"HP:0031593","name":"Abnormal PR interval","obsolete":false,"parents":["HP:0003115"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction in voltage of the PR segment below baseline.","id":"HP:0031594","name":"PR segment depression","obsolete":false,"parents":["HP:0031596"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"PR interval depression"},{"scope":"EXACT","text":"PTa depression"}]} +{"alt_ids":[],"definition":"Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria.","id":"HP:0031595","name":"Abnormal P wave","obsolete":false,"parents":["HP:0003115"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the PR segment, which begins at the endpoint of the P wave and ends at the onset of the QRS complex. The PR segment is normally flat and isoelectric.","id":"HP:0031596","name":"Abnormal PR segment","obsolete":false,"parents":["HP:0003115"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in voltage of the PR segment above baseline.","id":"HP:0031597","name":"PR segment elevation","obsolete":false,"parents":["HP:0031596"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"PR interval elevation"},{"scope":"EXACT","text":"PTa elevation"}]} +{"alt_ids":[],"definition":"V-shaped cut (notch) in the middle of the P wave.","id":"HP:0031598","name":"Notched P wave","obsolete":false,"parents":["HP:0031595"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II.","id":"HP:0031599","name":"P mitrale","obsolete":false,"parents":["HP:0031595"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"P wave below instead of above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves.","id":"HP:0031600","name":"P wave inversion","obsolete":false,"parents":["HP:0031595"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of tall, peaked P waves in EKG lead II.","id":"HP:0031601","name":"P pulmonale","obsolete":false,"parents":["HP:0031595"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary beating.","id":"HP:0031602","name":"Abnormal mucociliary clearance","obsolete":false,"parents":["HP:0002795"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal mucociliary transport"}]} +{"alt_ids":[],"definition":"An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes.","id":"HP:0031603","name":"Impaired nasal mucociliary clearance","obsolete":false,"parents":["HP:0031602"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Abnormal saccharine test"}]} +{"alt_ids":[],"definition":"A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.","id":"HP:0031604","name":"Agenesis of the carotid canal","obsolete":false,"parents":["HP:0009911"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bony carotid canal agenesis"}]} +{"alt_ids":[],"definition":"Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve. Fundus pigmentation should be evaluated in the context of skin and hair color.","id":"HP:0031605","name":"Abnormal fundus pigmentation","obsolete":false,"parents":["HP:0001098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of fundus pigmentation"}]} +{"alt_ids":[],"definition":"Fluffy white patch in the inner retina, representing localized areas of dense white swelling of the retinal nerve fiber layer.","id":"HP:0031606","name":"Retinal cotton wool spot","obsolete":false,"parents":["HP:0030506"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0100672"],"definition":"Pelvic organ prolapse (POP) refers to the protrusion of one or more female pelvic organs outside the pelvis through the vagina including uterus, bladder and intestines, and causes the pelvic organs to drop downward to the vaginal wall. That is, POP is defined as the anatomical prolapse with descent of at least one of the vaginal walls to or beyond the vaginal hymen with maximal Valsalva effort with the presence either of bothersome characteristic symptoms, most commonly the sensation of vaginal bulge, or of functional or medical compromise due to prolapse without symptom bother.","id":"HP:0031607","name":"Pelvic organ prolapse","obsolete":false,"parents":["HP:0000142"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Female genital prolapse"},{"scope":"EXACT","text":"Vaginal hernia"},{"scope":"EXACT","text":"Vaginal prolapse"}]} +{"alt_ids":[],"definition":"Chronic progressive degeneration of the macula that can be seen as part of late-stage age-related macular degeneration (AMD).","id":"HP:0031609","name":"Macular geographic atrophy","obsolete":false,"parents":["HP:0001105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Geographic atrophy"},{"scope":"EXACT","text":"Geographic atrophy of the macula"}]} +{"alt_ids":[],"definition":"Shoulder dislocation occurring repeated times.","id":"HP:0031610","name":"Recurrent shoulder dislocation","obsolete":false,"parents":["HP:0003834","HP:0031869"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multiple shoulder dislocation"}]} +{"alt_ids":[],"definition":"A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer.","id":"HP:0031611","name":"Sub-inner limiting membrane hemorrhage","obsolete":false,"parents":["HP:0000573"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sub-ILM haemorrhage"},{"scope":"EXACT","text":"Sub-ILM hemorrhage"},{"scope":"EXACT","text":"Sub-inner limiting membrane haemorrhage"}]} +{"alt_ids":[],"definition":"Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus.","id":"HP:0031613","name":"Inferior chorioretinal coloboma","obsolete":false,"parents":["HP:0000567"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A notch or cleft of the lower part of the retina.","id":"HP:0031614","name":"Inferior retinal coloboma","obsolete":false,"parents":["HP:0000480"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of pus (appears as a white fluid) producing a fluid level in the inferior part of the anterior chamber.","id":"HP:0031615","name":"Hypopyon","obsolete":false,"parents":["HP:0000593"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber.","id":"HP:0031616","name":"Anterior chamber flare","obsolete":false,"parents":["HP:0000593"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Faint anterior chamber flare.","id":"HP:0031618","name":"Anterior chamber flare grade 1+","obsolete":false,"parents":["HP:0031616"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Moderate anterior chamber flare (iris and lens details clear).","id":"HP:0031619","name":"Anterior chamber flare grade 2+","obsolete":false,"parents":["HP:0031616"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Marked anterior chamber flare (iris and lens details hazy).","id":"HP:0031620","name":"Anterior chamber flare grade 3+","obsolete":false,"parents":["HP:0031616"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Intense anterior chamber flare (fibrin/plastic aqueous).","id":"HP:0031621","name":"Anterior chamber flare grade 4+","obsolete":false,"parents":["HP:0031616"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result.","id":"HP:0031622","name":"Brown anomaly","obsolete":false,"parents":["HP:0025068"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brown syndrome"}]} +{"alt_ids":[],"definition":"Drooping of the upper eyebrow below the superior orbital rim.","id":"HP:0031623","name":"Brow ptosis","obsolete":false,"parents":["HP:0000534"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Drooping brow"}]} +{"alt_ids":[],"definition":"A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters.","id":"HP:0031624","name":"Moderate myopia","obsolete":false,"parents":["HP:0000545"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A contained rupture of an artery with a disruption in all 3 layers of the arterial wall.","id":"HP:0031625","name":"Pseudoaneurysm","obsolete":false,"parents":["HP:0002617"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve.","id":"HP:0031626","name":"Coronary ostial atresia","obsolete":false,"parents":["HP:0011636"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atresia of coronary ostium"}]} +{"alt_ids":[],"definition":"Pathological deposition of calcium salts in the globus pallidus.","id":"HP:0031627","name":"Globus pallidus calcification","obsolete":false,"parents":["HP:0002453"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it.","id":"HP:0031628","name":"Aborted sudden cardiac death","obsolete":false,"parents":["HP:0001695"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sudden cardiac arrest"}]} +{"alt_ids":[],"definition":"Reduced ability to walk in a straight line while placing the feet heel to toe.","id":"HP:0031629","name":"Impaired tandem gait","obsolete":false,"parents":["HP:0001288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Clumsy tandem walking"}]} +{"alt_ids":[],"definition":"Any structural anomaly located between the pleura and the chest wall.","id":"HP:0031630","name":"Abnormal subpleural morphology","obsolete":false,"parents":["HP:0002088"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space.","id":"HP:0031631","name":"Subpleural honeycombing","obsolete":false,"parents":["HP:0031630"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0031014"],"definition":"Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery.","id":"HP:0031632","name":"Aberrant right subclavian artery","obsolete":false,"parents":["HP:0031251"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aberrant right subclavian artery syndrome"},{"scope":"EXACT","text":"Anomalous origin of right subclavian artery"},{"scope":"EXACT","text":"Anomalous origin of the right subclavian artery from the descending aorta"},{"scope":"EXACT","text":"Anomalous right subclavian artery"},{"scope":"EXACT","text":"Arteria lusoria"},{"scope":"EXACT","text":"Lusorian artery"}]} +{"alt_ids":[],"definition":"The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus.","id":"HP:0031633","name":"Isolation of the left subclavian artery","obsolete":false,"parents":["HP:0031251"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery.","id":"HP:0031634","name":"Anomalous origin of the left common carotid artery from the main pulmonary artery","obsolete":false,"parents":["HP:0430021"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery.","id":"HP:0031635","name":"Anomalous origin of the left common carotid artery from the brachiocephalic artery","obsolete":false,"parents":["HP:0430021"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anomalous origin of the left common carotid artery from the brachiocephalic trunk"}]} +{"alt_ids":[],"definition":"The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta.","id":"HP:0031636","name":"Anomalous origin of the right common carotid artery from the aorta","obsolete":false,"parents":["HP:0430021"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the normal opening of the coronary ostium from which the right main coronary artery originates.","id":"HP:0031637","name":"Right coronary artery ostial atresia","obsolete":false,"parents":["HP:0031626"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The left anterior descending artery (LAD) branches off from the pulmonary artery.","id":"HP:0031638","name":"Anomalous origin of the left anterior descending artery from the pulmonary artery","obsolete":false,"parents":["HP:0011637"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava.","id":"HP:0031639","name":"Absent left main coronary artery","obsolete":false,"parents":["HP:0011636"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent LMCA"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the radial artery.","id":"HP:0031640","name":"Abnormal radial artery morphology","obsolete":false,"parents":["HP:0011004"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A concentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves the full circumference of the vessel wall.","id":"HP:0031643","name":"Fusiform ascending tubular aorta aneurysm","obsolete":false,"parents":["HP:0004970"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall","id":"HP:0031644","name":"Fusiform abdominal aortic aneurysm","obsolete":false,"parents":["HP:0005112"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall.","id":"HP:0031645","name":"Saccular abdominal aortic aneurysm","obsolete":false,"parents":["HP:0005112"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall.","id":"HP:0031646","name":"Fusiform aortic arch aneurysm","obsolete":false,"parents":["HP:0005113"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall.","id":"HP:0031647","name":"Saccular aortic arch aneurysm","obsolete":false,"parents":["HP:0005113"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture.","id":"HP:0031648","name":"Penetrating aortic ulcer","obsolete":false,"parents":["HP:0001679"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Tearing of the aortic wall generally associated with profuse internal bleeding.","id":"HP:0031649","name":"Aortic rupture","obsolete":false,"parents":["HP:0001679"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any functional defect of the mitral or tricuspid valve.","id":"HP:0031650","name":"Abnormal atrioventricular valve physiology","obsolete":false,"parents":["HP:0031653"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any functional defect of the tricuspid valve.","id":"HP:0031651","name":"Abnormal tricuspid valve physiology","obsolete":false,"parents":["HP:0031650"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0031652","name":"Abnormal aortic valve physiology","obsolete":false,"parents":["HP:0031653"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any functional abnormality of a cardiac valve.","id":"HP:0031653","name":"Abnormal heart valve physiology","obsolete":false,"parents":["HP:0011025"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any functional anomaly of the pumonary valve.","id":"HP:0031654","name":"Abnormal pulmonary valve physiology","obsolete":false,"parents":["HP:0031653"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of an aortic valve with four instead of the normal three cusps (flaps).","id":"HP:0031655","name":"Quadricuspid aortic valve","obsolete":false,"parents":["HP:0031567"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole.","id":"HP:0031656","name":"Systolic anterior motion of the mitral valve","obsolete":false,"parents":["HP:0031481"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormal noise generated by the beating heart.","id":"HP:0031657","name":"Abnormal heart sound","obsolete":false,"parents":["HP:0011025"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients.","id":"HP:0031658","name":"Third heart sound","obsolete":false,"parents":["HP:0033113"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"S3"},{"scope":"EXACT","text":"Ventricular gallop"}]} +{"alt_ids":[],"definition":"The fourth heart sound (S4) is a low-pitched sound that occurs just before the first heart sound (S1) when the atria contract to force blood into the left ventricle, that is, coincident with late diastolic filling of the ventricle due to atrial contraction.","id":"HP:0031659","name":"Fourth heart sound","obsolete":false,"parents":["HP:0033113"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atrial gallop"},{"scope":"EXACT","text":"Presystolic gallop"},{"scope":"EXACT","text":"S4"}]} +{"alt_ids":[],"definition":"Abnormally increased volume of the first heart sound.","id":"HP:0031660","name":"Loud first heart sound","obsolete":false,"parents":["HP:0031657"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration.","id":"HP:0031661","name":"Abnormal second heart sound","obsolete":false,"parents":["HP:0031657"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration.","id":"HP:0031662","name":"Fixed splitting of the second heart sound","obsolete":false,"parents":["HP:0031661"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fixed splitting of S2"}]} +{"alt_ids":[],"definition":"Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the opposite of the normal pattern).","id":"HP:0031663","name":"Paradoxical splitting of the second heart sound","obsolete":false,"parents":["HP:0031661"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Paradoxical splitting of S2"},{"scope":"EXACT","text":"Reversed splitting of S2"},{"scope":"EXACT","text":"Reversed splitting of the second heart sound"}]} +{"alt_ids":[],"definition":"A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2.","id":"HP:0031664","name":"Systolic heart murmur","obsolete":false,"parents":["HP:0030148"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern.","id":"HP:0031665","name":"Midsystolic murmur","obsolete":false,"parents":["HP:0031664"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A murmur that occurs in the latter phase of systole.","id":"HP:0031666","name":"Late systolic murmur","obsolete":false,"parents":["HP:0031664"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A heart murmur that occurs during the entire systolic phase from S1 to S2.","id":"HP:0031667","name":"Holosystolic murmur","obsolete":false,"parents":["HP:0031664"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1.","id":"HP:0031668","name":"Diastolic heart murmur","obsolete":false,"parents":["HP:0030148"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A murmur that occurs in the middle of the diastolic phase.","id":"HP:0031669","name":"Middiastolic murmur","obsolete":false,"parents":["HP:0031668"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A murmur that occurs in both systole and diastole.","id":"HP:0031670","name":"Continuous heart murmur","obsolete":false,"parents":["HP:0030148"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Typical atrial flutter is an organized atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative.","id":"HP:0031671","name":"Typical atrial flutter","obsolete":false,"parents":["HP:0004749"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1.","id":"HP:0031672","name":"Reverse typical atrial flutter","obsolete":false,"parents":["HP:0004749"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction.","id":"HP:0031673","name":"Orthodromic atrioventricular reentrant tachycardia","obsolete":false,"parents":["HP:0011717"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Orthodromic AVRT"}]} +{"alt_ids":[],"definition":"A type of atrioventricular reentrant tachycardia (AVRT) where the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction.","id":"HP:0031674","name":"Antidromic atrioventricular reentrant tachycardia","obsolete":false,"parents":["HP:0011717"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Antidromic AVRT"}]} +{"alt_ids":[],"definition":"A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG).","id":"HP:0031675","name":"Fascicular left ventricular tachycardia","obsolete":false,"parents":["HP:0004756"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so).","id":"HP:0031676","name":"Monomorphic ventricular tachycardia","obsolete":false,"parents":["HP:0004756"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat).","id":"HP:0031677","name":"Polymorphic ventricular tachycardia","obsolete":false,"parents":["HP:0004756"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from the development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus.","id":"HP:0031678","name":"Atherosclerotic lesion","obsolete":false,"parents":["HP:0002621"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells).","id":"HP:0031679","name":"Type I atherosclerotic lesion","obsolete":false,"parents":["HP:0031678"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid.","id":"HP:0031680","name":"Type II atherosclerotic lesion","obsolete":false,"parents":["HP:0031678"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions.","id":"HP:0031681","name":"Type III atherosclerotic lesion","obsolete":false,"parents":["HP:0031678"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant.","id":"HP:0031682","name":"Type V atherosclerotic lesion","obsolete":false,"parents":["HP:0031678"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes.","id":"HP:0031683","name":"Type VI atherosclerotic lesion","obsolete":false,"parents":["HP:0031678"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An atherosclerotic lesion located in the renal artery.","id":"HP:0031684","name":"Renal artery atherosclerosis","obsolete":false,"parents":["HP:0008776"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0032483"],"definition":"Abnormal level of metabolite or other abnormal analyte result in a stool test.","id":"HP:0031685","name":"Abnormal stool composition","obsolete":false,"parents":["HP:0001939","HP:0025033"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormal faecal test result"},{"scope":"EXACT","text":"Abnormal faeces composition"},{"scope":"RELATED","text":"Abnormal fecal test result"},{"scope":"EXACT","text":"Abnormal feces composition"}]} +{"alt_ids":[],"definition":"An abnormally elevated amount of alpha1-antitrypsin in the feces.","id":"HP:0031686","name":"Increased stool alpha1-antitrypsin concentration","obsolete":false,"parents":["HP:0031685"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0031687","name":"Abnormally loud pulmonic component of the second heart sound","obsolete":false,"parents":["HP:0031661"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Accentuation of the pulmonic component of the second heart sound"}]} +{"alt_ids":[],"definition":"Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts.","id":"HP:0031688","name":"Erythroid dysplasia","obsolete":false,"parents":["HP:0012130"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Dyserythropoiesis"}]} +{"alt_ids":[],"definition":"The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei.","id":"HP:0031689","name":"Megakaryocyte dysplasia","obsolete":false,"parents":["HP:0012143"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dysmegakaryopoiesis"}]} +{"alt_ids":[],"definition":"An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system.","id":"HP:0031690","name":"Opportunistic infection","obsolete":false,"parents":["HP:0032101"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unusually severe viral infection.","id":"HP:0031691","name":"Severe viral infection","obsolete":false,"parents":["HP:0032169"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unusually severe infection by cytomegalovirus.","id":"HP:0031692","name":"Severe cytomegalovirus infection","obsolete":false,"parents":["HP:0031691","HP:5210146"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unusually severe Epstein Barr virus (EBV) infection.","id":"HP:0031693","name":"Severe Epstein Barr virus infection","obsolete":false,"parents":["HP:0031691","HP:5210286"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fulminant infectious mononucleosis"},{"scope":"EXACT","text":"Severe EBV infection"}]} +{"alt_ids":[],"definition":"An unusually severe adenovirus infection.","id":"HP:0031694","name":"Severe adenovirus infection","obsolete":false,"parents":["HP:0031691","HP:5210101"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to parainfluenza virus infections as manifested by a severe or invasive infection with parainfluenza virus.","id":"HP:0031695","name":"Severe parainfluenza infection","obsolete":false,"parents":["HP:0031691","HP:5210323"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated parainfluenza infection"},{"scope":"EXACT","text":"Invasive parainfluenza infection"}]} +{"alt_ids":[],"definition":"A viral infection that fails to be contained by the immune system and spreads throughout the body.","id":"HP:0031696","name":"Disseminated viral infection","obsolete":false,"parents":["HP:0033432"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A dissemination viral infection caused by a live attenuated vaccine virus.","id":"HP:0031697","name":"Disseminated infection with live vaccine virus","obsolete":false,"parents":["HP:0031696"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis.","id":"HP:0031698","name":"obsolete Disseminated Bacillus Calmette-Guerin infection","obsolete":true,"parents":[],"replaced_by":["HP:0020087"],"synonyms":[]} +{"alt_ids":[],"definition":"Disseminated infection with Cryptosporidium species, involving organs beyond the gastrointestinal tract such as the biliary tree, respiratory tract, or pancreas.","id":"HP:0031699","name":"Disseminated cryptosporidium infection","obsolete":false,"parents":["HP:0031690","HP:5210119"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated cryptosporidiosis"},{"scope":"EXACT","text":"Invasive Cryptosporidium infection"},{"scope":"EXACT","text":"Severe Cryptosporidium infection"}]} +{"alt_ids":[],"definition":"A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host.","id":"HP:0031700","name":"Invasive parasitic infection","obsolete":false,"parents":["HP:0020108","HP:0031690"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye.","id":"HP:0031701","name":"Anterior chamber inflammatory cells","obsolete":false,"parents":["HP:0000593"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye.","id":"HP:0031702","name":"Anterior chamber red blood cells","obsolete":false,"parents":["HP:0000593"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anterior chamber RBCs"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the ear.","id":"HP:0031703","name":"Abnormal ear morphology","obsolete":false,"parents":["HP:0000598"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any functional anomaly of the ear.","id":"HP:0031704","name":"Abnormal ear physiology","obsolete":false,"parents":["HP:0000598"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem.","id":"HP:0031705","name":"Compensatory head posture","obsolete":false,"parents":["HP:0000496"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement.","id":"HP:0031706","name":"Compensatory chin depression","obsolete":false,"parents":["HP:0031705"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tendency to turn the face to the right to compensate for a limitation of eye movement.","id":"HP:0031707","name":"Compensatory face turn to the right","obsolete":false,"parents":["HP:0031705"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tendency to turn the face to the left to compensate for a limitation of eye movement.","id":"HP:0031708","name":"Compensatory face turn to the left","obsolete":false,"parents":["HP:0031705"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tendency to tilt the head towards the right shoulder to compensate for a limitation of eye movement.","id":"HP:0031709","name":"Compensatory head tilt to the right shoulder","obsolete":false,"parents":["HP:0031705"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement.","id":"HP:0031710","name":"Compensatory head tilt to the left shoulder","obsolete":false,"parents":["HP:0031705"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric).","id":"HP:0031711","name":"Asymmetric abdominal aortic aneurysm","obsolete":false,"parents":["HP:0005112"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times.","id":"HP:0031713","name":"Constant exotropia","obsolete":false,"parents":["HP:0000577"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittent.","id":"HP:0031714","name":"Distance exotropia","obsolete":false,"parents":["HP:0000577"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant).","id":"HP:0031715","name":"Near exotropia","obsolete":false,"parents":["HP:0000577"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle.","id":"HP:0031716","name":"Cyclic exotropia","obsolete":false,"parents":["HP:0000577"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of exotropia in which either eye may be used for fixation.","id":"HP:0031717","name":"Alternating exotropia","obsolete":false,"parents":["HP:0000577"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Alternating strabismus"}]} +{"alt_ids":[],"definition":"Exotropia in an individual who has previously had esotropia or esophoria.","id":"HP:0031718","name":"Consecutive exotropia","obsolete":false,"parents":["HP:0000577"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits.","id":"HP:0031719","name":"True distance exotropia","obsolete":false,"parents":["HP:0031714"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and/or (2) elimination of accommodation.","id":"HP:0031720","name":"Simulated distance exotropia","obsolete":false,"parents":["HP:0031714"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of divergent strabismus (exotropia) that develops in a poorly seeing eye.","id":"HP:0031721","name":"Sensory exotropia","obsolete":false,"parents":["HP:0000577"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Secondary exotropia"}]} +{"alt_ids":[],"definition":"An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved.","id":"HP:0031722","name":"Near esotropia","obsolete":false,"parents":["HP:0031760"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Non-accomodative convergence excess esotropia"}]} +{"alt_ids":[],"definition":"Convergent squint which follows loss or impairment of vision.","id":"HP:0031723","name":"Secondary esotropia","obsolete":false,"parents":["HP:0000565"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sensory esotropia"}]} +{"alt_ids":[],"definition":"A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs.","id":"HP:0031724","name":"Microtropia","obsolete":false,"parents":["HP:0032012"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards.","id":"HP:0031725","name":"Hypophoria","obsolete":false,"parents":["HP:0025588","HP:0032011"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other.","id":"HP:0031726","name":"Incyclotropia","obsolete":false,"parents":["HP:0031776"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other.","id":"HP:0031727","name":"Excyclotropia","obsolete":false,"parents":["HP:0031776"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of hypermetropia with not more than +2.00 diopters.","id":"HP:0031728","name":"Mild hypermetropia","obsolete":false,"parents":["HP:0000540"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mild hyperopia"}]} +{"alt_ids":[],"definition":"A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters.","id":"HP:0031729","name":"Moderate hypermetropia","obsolete":false,"parents":["HP:0000540"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Moderate hyperopia"}]} +{"alt_ids":[],"definition":"A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye.","id":"HP:0031730","name":"Axial myopia","obsolete":false,"parents":["HP:0000545"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased lacrimation owing to overproduction of tears.","id":"HP:0031731","name":"Increased tear production","obsolete":false,"parents":["HP:0009926"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance.","id":"HP:0031732","name":"Increased basal tear production","obsolete":false,"parents":["HP:0031731"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease).","id":"HP:0031733","name":"Reflex tearing","obsolete":false,"parents":["HP:0031731"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion.","id":"HP:0031734","name":"Lacrimal pump failure","obsolete":false,"parents":["HP:0009926"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle.","id":"HP:0031736","name":"Involutional entropion","obsolete":false,"parents":["HP:0000621"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid.","id":"HP:0031737","name":"Cicatricial entropion","obsolete":false,"parents":["HP:0000621"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe.","id":"HP:0031738","name":"Mechanical entropion","obsolete":false,"parents":["HP:0000621"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional anomaly of the inferior or superior oblique muscle.","id":"HP:0031739","name":"Abnormal oblique muscle physiology","obsolete":false,"parents":["HP:0025590"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional anomaly of the medial rectus muscle or lateral rectus muscle.","id":"HP:0031740","name":"Abnormal horizontal rectus muscle physiology","obsolete":false,"parents":["HP:0031755"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy.","id":"HP:0031741","name":"Inferior oblique muscle underaction","obsolete":false,"parents":["HP:0025598"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.","id":"HP:0031742","name":"Inferior rectus muscle underaction","obsolete":false,"parents":["HP:0025601"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.","id":"HP:0031743","name":"Inferior rectus muscle overaction","obsolete":false,"parents":["HP:0025600"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased strength of the superior rectus muscle.","id":"HP:0031744","name":"Superior rectus muscle weakness","obsolete":false,"parents":["HP:0025603"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.","id":"HP:0031745","name":"Superior rectus muscle overaction","obsolete":false,"parents":["HP:0025603"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Mechanical limitation of the range of movement of the superior rectus muscle.","id":"HP:0031746","name":"Superior rectus muscle restriction","obsolete":false,"parents":["HP:0031744"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.","id":"HP:0031747","name":"Superior rectus muscle underaction","obsolete":false,"parents":["HP:0031744"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional anomaly of the superior or inferior rectus muscle.","id":"HP:0031748","name":"Abnormal vertical rectus muscle physiology","obsolete":false,"parents":["HP:0031755"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional anomaly of the lateral rectus muscle.","id":"HP:0031749","name":"Abnormal lateral rectus muscle physiology","obsolete":false,"parents":["HP:0031740"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased strength (ability to move) of the lateral rectus muscle.","id":"HP:0031750","name":"Lateral rectus muscle weakness","obsolete":false,"parents":["HP:0031749"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.","id":"HP:0031751","name":"Lateral rectus muscle underaction","obsolete":false,"parents":["HP:0031750"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excessive action of the lateral rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.","id":"HP:0031752","name":"Lateral rectus muscle overaction","obsolete":false,"parents":["HP:0031749"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased strength of the medial rectus muscle.","id":"HP:0031753","name":"Medial rectus muscle weakness","obsolete":false,"parents":["HP:0025606"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excessive action of the medial rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.","id":"HP:0031754","name":"Medial rectus muscle overaction","obsolete":false,"parents":["HP:0025606"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional anomaly of a vertical or horizontal rectus muscle.","id":"HP:0031755","name":"Abnormal rectus muscle physiology","obsolete":false,"parents":["HP:0025590"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.","id":"HP:0031756","name":"Medial rectus muscle underaction","obsolete":false,"parents":["HP:0031753"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Mechanical limitation of the range of movement of the medial rectus muscle.","id":"HP:0031757","name":"Medial rectus muscle restriction","obsolete":false,"parents":["HP:0031753"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Mechanical limitation of the range of movement of the lateral rectus muscle.","id":"HP:0031758","name":"Lateral rectus muscle restriction","obsolete":false,"parents":["HP:0031750"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times).","id":"HP:0031759","name":"Basic constant esotropia","obsolete":false,"parents":["HP:0031760"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Basic (constant) esotropia"}]} +{"alt_ids":[],"definition":"A form of esotropia in which the angle of deviation is not affected by accommodative effort.","id":"HP:0031760","name":"Non-accomodative esotropia","obsolete":false,"parents":["HP:0000565"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction.","id":"HP:0031761","name":"Infantile constant esotropia","obsolete":false,"parents":["HP:0031760"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Infantile (constant) esotropia"}]} +{"alt_ids":[],"definition":"An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging.","id":"HP:0031762","name":"Distance esotropia","obsolete":false,"parents":["HP:0031760"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Divergence insufficiency"}]} +{"alt_ids":[],"definition":"Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle.","id":"HP:0031763","name":"Cyclic esotropia","obsolete":false,"parents":["HP:0031760"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction.","id":"HP:0031764","name":"Fully accomodative esotropia","obsolete":false,"parents":["HP:0020046"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses.","id":"HP:0031765","name":"Partially accomodative esotropia","obsolete":false,"parents":["HP:0020046"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Constant esotropia with an accommodative component"},{"scope":"EXACT","text":"Constant esotropia with an accommodative element"}]} +{"alt_ids":[],"definition":"An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio.","id":"HP:0031766","name":"Convergence excess esotropia","obsolete":false,"parents":["HP:0020046"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection.","id":"HP:0031767","name":"Consecutive esotropia","obsolete":false,"parents":["HP:0000565"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fixation of an object in the area adjacent to the fovea.","id":"HP:0031768","name":"Parafoveal fixation","obsolete":false,"parents":["HP:0025549"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fixation of an object in a peripheral area of the retina.","id":"HP:0031769","name":"Peripheral fixation","obsolete":false,"parents":["HP:0025549"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of epicanthus in which a medial vertical fold is present between upper and lower lids.","id":"HP:0031770","name":"Epicanthus palpebralis","obsolete":false,"parents":["HP:0000286"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of epicanthus in which a primarily upper lid fold is present.","id":"HP:0031771","name":"Epicanthus tarsalis","obsolete":false,"parents":["HP:0000286"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the posterior circulating artery (PCOM).","id":"HP:0031772","name":"Abnormal posterior circulating artery morphology","obsolete":false,"parents":["HP:0012518"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A widening (ballooning) localized in the wall of the posterior communicating artery.","id":"HP:0031773","name":"Posterior communicating artery aneurysm","obsolete":false,"parents":["HP:0031772"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery.","id":"HP:0031774","name":"Posterior communicating artery infundibulum","obsolete":false,"parents":["HP:0031772"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them.","id":"HP:0031775","name":"Neurogenic strabismus","obsolete":false,"parents":["HP:0000486"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Paralytic strabismus"}]} +{"alt_ids":[],"definition":"A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia).","id":"HP:0031776","name":"Cyclotropia","obsolete":false,"parents":["HP:0025589","HP:0032012"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation.","id":"HP:0031777","name":"Cyclophoria","obsolete":false,"parents":["HP:0025589","HP:0032011"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other.","id":"HP:0031778","name":"Incyclophoria","obsolete":false,"parents":["HP:0031777"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other.","id":"HP:0031779","name":"Excyclophoria","obsolete":false,"parents":["HP:0031777"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of ascites in which there are large numbers of eosinophils in the ascitis fluid.","id":"HP:0031780","name":"Eosinophilic ascites","obsolete":false,"parents":["HP:0001541","HP:0032064"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC.","id":"HP:0031781","name":"Microtropia with identity","obsolete":false,"parents":["HP:0031724"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test.","id":"HP:0031782","name":"Microtropia without identity","obsolete":false,"parents":["HP:0031724"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect in which the coronary sinus fails to form.","id":"HP:0031783","name":"Absent coronary sinus","obsolete":false,"parents":["HP:0011642"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise.","id":"HP:0031784","name":"Abnormal ascending aorta morphology","obsolete":false,"parents":["HP:0001679"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality in voluntary or involuntary eyelid movements or their control.","id":"HP:0031785","name":"Abnormal eyelid movement","obsolete":false,"parents":["HP:0031879"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Transient eyelid retraction during refixation from down to straight ahead.","id":"HP:0031786","name":"Cogan lid twitch","obsolete":false,"parents":["HP:0031785"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cogan eyelid twitch"},{"scope":"EXACT","text":"Eyelid twitch"},{"scope":"EXACT","text":"Lid twitch"}]} +{"alt_ids":[],"definition":"Astigmatism in which the refractive power of the vertical meridian is the greatest.","id":"HP:0031787","name":"Oblique astigmatism","obsolete":false,"parents":["HP:0000483"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest).","id":"HP:0031788","name":"With the rule astigmatism","obsolete":false,"parents":["HP:0000483"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Astigmatism with more plus power on the horizontal meridian.","id":"HP:0031789","name":"Against the rule astigmatism","obsolete":false,"parents":["HP:0000483"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted).","id":"HP:0031790","name":"Mixed astigmatism","obsolete":false,"parents":["HP:0000483"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of astigmatism related to an irregular shape of the lens.","id":"HP:0031791","name":"Lenticular astigmatism","obsolete":false,"parents":["HP:0000483"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision.","id":"HP:0031792","name":"Irregular astigmatism","obsolete":false,"parents":["HP:0000483"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of leptin in the blood.","id":"HP:0031793","name":"Increased serum leptin","obsolete":false,"parents":["HP:0004361"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating leptin level"}]} +{"alt_ids":[],"definition":"A decrease below the normal concentration of glycerol in the blood.","id":"HP:0031794","name":"Decreased circulating glycerol level","obsolete":false,"parents":["HP:0031795"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of glycerol in the blood circulation.","id":"HP:0031795","name":"Abnormal circulating glycerol concentration","obsolete":false,"parents":["HP:0011013"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal glycerol level"}]} +{"alt_ids":[],"definition":"Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present.","id":"HP:0031796","name":"Recurrent","obsolete":false,"parents":["HP:0011008"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intermittent"}]} +{"alt_ids":[],"definition":"The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual.","id":"HP:0031797","name":"Clinical course","obsolete":false,"parents":["HP:0012823"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Natural history of disease"}]} +{"alt_ids":[],"definition":"The concentration of apolipoprotein B in the blood circulation is above the upper limit of normal.","id":"HP:0031798","name":"Elevated circulating apolipoprotein B concentration","obsolete":false,"parents":["HP:0033460"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated ApoB level"},{"scope":"EXACT","text":"Elevated apolipoprotein B level"}]} +{"alt_ids":[],"definition":"The concentration of apolipoprotein A-I in the blood circulation is below the lower limit of normal.","id":"HP:0031799","name":"Decreased circulating apolipoprotein A-I concentration","obsolete":false,"parents":["HP:0033459"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased apo-AI level"},{"scope":"EXACT","text":"Decreased apoA-I level"},{"scope":"EXACT","text":"Decreased apolipoprotein A-I concentration"},{"scope":"EXACT","text":"Decreased apolipoprotein A-I level"},{"scope":"EXACT","text":"Decreased apolipoprotein A-I level in blood"},{"scope":"EXACT","text":"Decreased apolipoprotein AI level"},{"scope":"EXACT","text":"Reduced apolipoprotein A-I concentration"},{"scope":"EXACT","text":"Reduced apolipoprotein A-I level"},{"scope":"EXACT","text":"Reduced apolipoprotein A-I level in blood"}]} +{"alt_ids":[],"definition":"The concentration of apolipoprotein A-II in the blood circulation is above the upper limit of normal.","id":"HP:0031800","name":"Elevated circulating apolipoprotein A-II concentration","obsolete":false,"parents":["HP:0033460"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated APOAII level"},{"scope":"EXACT","text":"Elevated Apo-AII level"},{"scope":"EXACT","text":"Elevated apoA-II level"},{"scope":"EXACT","text":"Elevated apolipoprotein A-II concentration"},{"scope":"EXACT","text":"Elevated apolipoprotein A-II level"},{"scope":"EXACT","text":"Elevated apolipoprotein A-II level in blood"},{"scope":"EXACT","text":"Increased apolipoprotein A-II concentration"},{"scope":"EXACT","text":"Increased apolipoprotein A-II level"},{"scope":"EXACT","text":"Increased apolipoprotein A-II level in blood"}]} +{"alt_ids":[],"definition":"Any functional anomaly of the vocal cord.","id":"HP:0031801","name":"Vocal cord dysfunction","obsolete":false,"parents":["HP:0001608"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bleeding within the fundus of the eye.","id":"HP:0031803","name":"Fundus hemorrhage","obsolete":false,"parents":["HP:0001098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fundus haemorrhage"}]} +{"alt_ids":[],"definition":null,"id":"HP:0031804","name":"obsolete Premacular hemorrhage","obsolete":true,"parents":[],"replaced_by":["HP:0025240"],"synonyms":[]} +{"alt_ids":[],"definition":"A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal hemorrhages may be 'dot' or' blot' shaped, flame shaped or confluent depending upon their depth within the retina.","id":"HP:0031805","name":"Intraretinal hemorrhage","obsolete":false,"parents":["HP:0000573"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intraretinal haemorrhage"}]} +{"alt_ids":[],"definition":"Abnormal increase or decrease of absolute number of basophils in the blood, per microliter, compared to a reference range for a given sex and age-group.","id":"HP:0031806","name":"Abnormal total basophil count","obsolete":false,"parents":["HP:0001912","HP:0032309"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase of absolute number of basophils in the blood, per microliter, compared to a reference range for a given sex and age-group.","id":"HP:0031807","name":"Increased total basophil count","obsolete":false,"parents":["HP:0031806"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Basophilia"},{"scope":"EXACT","text":"Increased basophil count"}]} +{"alt_ids":[],"definition":"Abnormal decrease of absolute number of basophils in the blood, per microliter, compared to a reference range for a given sex and age-group.","id":"HP:0031808","name":"Decreased total basophil count","obsolete":false,"parents":["HP:0031806"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased basophil count"}]} +{"alt_ids":[],"definition":"Shortening of the fourth and fifth metacarpals when the fist is clenched.","id":"HP:0031809","name":"Archibald's sign","obsolete":false,"parents":["HP:0005916"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Archibald's metacarpal sign"},{"scope":"EXACT","text":"Knuckle dimple"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides.","id":"HP:0031810","name":"Anti-ganglioside antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of conjugated bilirubin in the urine.","id":"HP:0031811","name":"Bilirubinuria","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of nitrites in the urine.","id":"HP:0031812","name":"Nitrituria","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon.","id":"HP:0031813","name":"Colonic eosinophilia","obsolete":false,"parents":["HP:0002037","HP:0032064"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eosinophilic colitis"},{"scope":"EXACT","text":"Eosinophilic infiltration in the colon"}]} +{"alt_ids":[],"definition":"Palilalia is the involuntary repetition of one's own phrases, words, or syllables 2 or more times in a row. Typically, palilalic utterances decrease in volume with the increasing number of repetitions. Sometimes, the repetitions are also uttered with an accelerating speed.","id":"HP:0031814","name":"Palilalia","obsolete":false,"parents":["HP:4000074"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional anomaly of the mouth (which is also known as the oral cavity).","id":"HP:0031815","name":"Abnormal oral physiology","obsolete":false,"parents":["HP:0000153"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the mouth, which is also known as the oral cavity.","id":"HP:0031816","name":"Abnormal oral morphology","obsolete":false,"parents":["HP:0000153"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally decreased concentration of parathyroid hormone.","id":"HP:0031817","name":"Decreased circulating parathyroid hormone level","obsolete":false,"parents":["HP:0100530"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating PTH level"},{"scope":"EXACT","text":"Decreased serum PTH"},{"scope":"EXACT","text":"Decreased serum parathyroid hormone"},{"scope":"EXACT","text":"Decreased serum parathyroid hormone level"}]} +{"alt_ids":[],"definition":"A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement.","id":"HP:0031818","name":"Abnormal waist to hip ratio","obsolete":false,"parents":["HP:0004323"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.","id":"HP:0031819","name":"Increased waist to hip ratio","obsolete":false,"parents":["HP:0031818"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased WHR"},{"scope":"EXACT","text":"Increased waist-hip ratio"},{"scope":"EXACT","text":"Increased waist-to-hip ratio"}]} +{"alt_ids":[],"definition":"Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.","id":"HP:0031820","name":"Decreased waist to hip ratio","obsolete":false,"parents":["HP:0031818"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased WHR"},{"scope":"EXACT","text":"Decreased waist-hip ratio"},{"scope":"EXACT","text":"Decreased waist-to-hip ratio"}]} +{"alt_ids":[],"definition":"Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.","id":"HP:0031821","name":"Abnormal hypoxanthine-guanine phosphoribosyltransferase level","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal 6-hydroxypurine phosphoribosyltransferase level"},{"scope":"EXACT","text":"Abnormal GMP pyrophosphorylase level"},{"scope":"EXACT","text":"Abnormal GPRT level"}]} +{"alt_ids":[],"definition":"Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.","id":"HP:0031822","name":"Elevated hypoxanthine-guanine phosphoribosyltransferase level","obsolete":false,"parents":["HP:0031821"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated 6-hydroxypurine phosphoribosyltransferase level"},{"scope":"EXACT","text":"Elevated 6-mercaptopurine phosphoribosyltransferase level"},{"scope":"EXACT","text":"Elevated GMP pyrophosphorylase level"}]} +{"alt_ids":[],"definition":"Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.","id":"HP:0031823","name":"Reduced hypoxanthine-guanine phosphoribosyltransferase level","obsolete":false,"parents":["HP:0031821"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced 6-hydroxypurine phosphoribosyltransferase level"},{"scope":"EXACT","text":"Reduced 6-mercaptopurine phosphoribosyltransferase level"},{"scope":"EXACT","text":"Reduced GMP pyrophosphorylase level"}]} +{"alt_ids":[],"definition":"Liver mast cell infiltration.","id":"HP:0031824","name":"Hepatic mastocytosis","obsolete":false,"parents":["HP:0100495"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk.","id":"HP:0031825","name":"Freezing of gait","obsolete":false,"parents":["HP:0001288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Freezing gait"}]} +{"alt_ids":[],"definition":"Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur).","id":"HP:0031826","name":"Abnormal reflex","obsolete":false,"parents":["HP:0100022"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus.","id":"HP:0031827","name":"Absent abdominal reflex","obsolete":false,"parents":["HP:0031828"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abdominal reflex absent"}]} +{"alt_ids":[],"definition":"An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons.","id":"HP:0031828","name":"Abnormal superficial reflex","obsolete":false,"parents":["HP:0031826"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex.","id":"HP:0031829","name":"Absent cremaster reflex","obsolete":false,"parents":["HP:0031828"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent cremasteric reflex"}]} +{"alt_ids":[],"definition":"A pinguecula is a yellowish to brown protruding lesion in the conjunctiva that is easily seen on the nasal and temporal sides of the cornea.","id":"HP:0031830","name":"Pinguecula","obsolete":false,"parents":["HP:0000502"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced concentration of zinc in the blood.","id":"HP:0031831","name":"Decreased serum zinc","obsolete":false,"parents":["HP:0008277"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Overshoot of downward saccadic eye movements.","id":"HP:0031832","name":"Hypermetric downward saccades","obsolete":false,"parents":["HP:0007338"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Saccadic undershoot of upward saccadic eye movements, i.e., an upward saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.","id":"HP:0031833","name":"Hypometric upward saccades","obsolete":false,"parents":["HP:0000571"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus.","id":"HP:0031834","name":"Aortopulmonary collateral arteries","obsolete":false,"parents":["HP:0001679"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of superoxide dismutase is above or below the limits of normal in the blood circulation.","id":"HP:0031835","name":"Abnormal circulating superoxide dismutase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal superoxide dismutase level"},{"scope":"EXACT","text":"Abnormal superoxide:superoxide oxidoreductase activity"}]} +{"alt_ids":[],"definition":"Concentration or activity of superoxide dismutase is above the upper limit of normal in the blood circulation.","id":"HP:0031836","name":"Increased circulating superoxide dismutase concentration","obsolete":false,"parents":["HP:0031835"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased superoxide dismutase level"},{"scope":"EXACT","text":"Increased superoxide:superoxide oxidoreductase activity"}]} +{"alt_ids":[],"definition":"Concentration or activity of superoxide dismutase is below the lower limit of normal in the blood circulation.","id":"HP:0031837","name":"Decreased circulating superoxide dismutase concentration","obsolete":false,"parents":["HP:0031835"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased superoxide dismutase level"},{"scope":"EXACT","text":"Decreased superoxide:superoxide oxidoreductase activity"}]} +{"alt_ids":[],"definition":"Presence of a chemical substance found within an individual that is not naturally produced or expected to be present in human tissues or bodily fluids.","id":"HP:0031838","name":"Presence of xenobiotic","obsolete":false,"parents":["HP:0001939"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a xenobiotic in urine.","id":"HP:0031840","name":"Urine xenobiotic","obsolete":false,"parents":["HP:0031838"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in urine.","id":"HP:0031841","name":"Positive urine methadone test","obsolete":false,"parents":["HP:0031840"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma.","id":"HP:0031842","name":"Lymphangiectasis","obsolete":false,"parents":["HP:0100766"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lymphangiectasia"}]} +{"alt_ids":[],"definition":"An inner sense from the self that thoughts are abnormally slow and the individual feels that they are unable to increase their rate of thinking. The primary pathology is the decreased rate and other qualities of thinking (e.g. naming of objects) are intact, just slowed. This may be associated with slowed speech, but may be internal and masked by speech that is limited to brief (yes or no) answers.","id":"HP:0031843","name":"Abnormally slow thought process","obsolete":false,"parents":["HP:0025769"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormally slow thought processes"},{"scope":"EXACT","text":"Bradyphrenia"},{"scope":"EXACT","text":"Mental slowness"},{"scope":"EXACT","text":"Slow thought processes"},{"scope":"EXACT","text":"Slowed thinking"},{"scope":"EXACT","text":"Slowed thoughts"},{"scope":"EXACT","text":"Slowness of thought"}]} +{"alt_ids":["HP:0025767","HP:0025768"],"definition":"Elevation of emotional tone or mood that significantly deviates from normative affective functioning. This state is characterized by an overwhelming and all-encompassing sense of joyous well-being; it is associated with unfounded grandiosity, or grossly inflated self-esteem, rapid speech, impulsivity, and an impaired capacity for self-regulation, irrespective of context.","id":"HP:0031844","name":"Euphoria","obsolete":false,"parents":["HP:0100851"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormally elevated mood"},{"scope":"EXACT","text":"Euphoric mood"},{"scope":"RELATED","text":"Excessive joyfulness"},{"scope":"EXACT","text":"Extreme elation"},{"scope":"BROAD","text":"Hyperthymia"},{"scope":"BROAD","text":"Hyperthymic state"},{"scope":"EXACT","text":"Inappropriate elation"},{"scope":"RELATED","text":"Inappropriately happy"},{"scope":"BROAD","text":"Jubilation"},{"scope":"RELATED","text":"Pathological cheerfulness"}]} +{"alt_ids":[],"definition":"Any deviation from the normal sexual drive or desire for sexual activity.","id":"HP:0031845","name":"Abnormal libido","obsolete":false,"parents":["HP:0000080","HP:0008768"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A break or crush injury of the thigh bone (femur).","id":"HP:0031846","name":"Femur fracture","obsolete":false,"parents":["HP:0002823","HP:0025736"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Femoral fracture"}]} +{"alt_ids":[],"definition":"Reduced ability to walk (ambulate) in a backwards direction.","id":"HP:0031847","name":"Difficulty walking backward","obsolete":false,"parents":["HP:0001288"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor.","id":"HP:0031848","name":"Cock-walk gait","obsolete":false,"parents":["HP:0031954"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reversal of sleeping habits, with a tendency to sleep during the day and be awake at night.","id":"HP:0031849","name":"Sleep-wake inversion","obsolete":false,"parents":["HP:0006979"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inverted sleep-wake cycle"},{"scope":"EXACT","text":"Reversed sleep-wake cycle"},{"scope":"EXACT","text":"Sleep rhythm inversion"}]} +{"alt_ids":[],"definition":"Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood.","id":"HP:0031850","name":"Abnormal hematocrit","obsolete":false,"parents":["HP:0001877"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal Hct"}]} +{"alt_ids":[],"definition":"A reduction below the normal ratio of the volume of red blood cells to the total volume of blood.","id":"HP:0031851","name":"Reduced hematocrit","obsolete":false,"parents":["HP:0031850"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low hematocrit"},{"scope":"EXACT","text":"Reduced Hct"}]} +{"alt_ids":[],"definition":"Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other.","id":"HP:0031853","name":"Isomerism","obsolete":false,"parents":["HP:0030853"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures.","id":"HP:0031854","name":"Left Isomerism","obsolete":false,"parents":["HP:0031853"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Left-sided isomerism"}]} +{"alt_ids":[],"definition":"A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures.","id":"HP:0031855","name":"Right isomerism","obsolete":false,"parents":["HP:0031853"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Right-sided isomerism"}]} +{"alt_ids":[],"definition":"An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but affected individuals are able to improve their dystonic gait by walking backward.","id":"HP:0031856","name":"Hobby horse gait","obsolete":false,"parents":["HP:0031954"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus.","id":"HP:0031857","name":"Ineffective esophageal peristalsis","obsolete":false,"parents":["HP:0025270","HP:0100771"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ineffective esophageal motility"}]} +{"alt_ids":[],"definition":"Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus).","id":"HP:0031858","name":"Esophageal furrows","obsolete":false,"parents":["HP:0002031"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality in the variability of the time interval between successive heartbeats.","id":"HP:0031860","name":"Abnormal heart rate variability","obsolete":false,"parents":["HP:0011675"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.","id":"HP:0031861","name":"Decreased heart rate variability","obsolete":false,"parents":["HP:0031860"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced heart rate variability"}]} +{"alt_ids":[],"definition":"Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.","id":"HP:0031862","name":"Increased heart rate variability","obsolete":false,"parents":["HP:0031860"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of an infectious agent in the blood circulation.","id":"HP:0031863","name":"Bloodstream infectious agent","obsolete":false,"parents":["HP:0430150"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of viable bacteria in the blood.","id":"HP:0031864","name":"Bacteremia","obsolete":false,"parents":["HP:0031863"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bacteria in blood culture"},{"scope":"EXACT","text":"Bacteria in blood cultures"}]} +{"alt_ids":[],"definition":"Any functional anomaly of the liver.","id":"HP:0031865","name":"Abnormal liver physiology","obsolete":false,"parents":["HP:0001392","HP:0025155"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal hepatic physiology"}]} +{"alt_ids":[],"definition":"Clasp-knife phenomenon refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be stretched. This phenomenon has been likened to opening a clasp knife.","id":"HP:0031866","name":"Clasp-knife sign","obsolete":false,"parents":["HP:0034353"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased passive stiffness or tightness of the neck musculature.","id":"HP:0031867","name":"Neck hypertonia","obsolete":false,"parents":["HP:0001276"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Difficulty reaching visually guided goals in peripheral vision, with the deficit, leaves voluntary eye movements largely unaffected.","id":"HP:0031868","name":"Optic ataxia","obsolete":false,"parents":["HP:0001251"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Dislocation of a given joint repeated times.","id":"HP:0031869","name":"Recurrent joint dislocation","obsolete":false,"parents":["HP:0001373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent joint dislocations"}]} +{"alt_ids":[],"definition":"An elevated concentration of phosphohydroxylysine in the urine.","id":"HP:0031870","name":"Phosphohydroxylysinuria","obsolete":false,"parents":["HP:0033097"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis.","id":"HP:0031871","name":"Abnormal Langerhans cell morphology","obsolete":false,"parents":["HP:0025461"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy.","id":"HP:0031872","name":"Absent Birbeck granules in Langerhans cells","obsolete":false,"parents":["HP:0031871"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tendency towards rising very early in the morning and going to bed early in the evening.","id":"HP:0031873","name":"Early chronotype","obsolete":false,"parents":["HP:0006979"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Advanced sleep onset"},{"scope":"RELATED","text":"Early sleep onset"}]} +{"alt_ids":[],"definition":"A tendency towards waking up very late in the morning and staying up late at night.","id":"HP:0031874","name":"Late chronotype","obsolete":false,"parents":["HP:0006979"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delayed sleep onset"},{"scope":"RELATED","text":"Late sleep onset"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of hepcidin in the blood circulation.","id":"HP:0031875","name":"Abnormal circulating hepcidin concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal hepcidin level"}]} +{"alt_ids":[],"definition":"Concentration of hepcidin in the blood circulation below the lower limit of normal.","id":"HP:0031876","name":"Decreased circulating hepcidin concentration","obsolete":false,"parents":["HP:0031875"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased hepcidin level"}]} +{"alt_ids":[],"definition":"Concentration of hepcidin in the blood circulation above the upper limit of normal.","id":"HP:0031877","name":"Elevated circulating hepcidin concentration","obsolete":false,"parents":["HP:0031875","HP:0033331"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated hepcidin level"}]} +{"alt_ids":[],"definition":"Small hands and feet in proportion to the rest of the body.","id":"HP:0031878","name":"Acromicria","obsolete":false,"parents":["HP:0002813"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any functional abnormality of the eyelid.","id":"HP:0031879","name":"Abnormal eyelid physiology","obsolete":false,"parents":["HP:0032040"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test.","id":"HP:0031880","name":"Eyelid laxity","obsolete":false,"parents":["HP:0031879"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lid laxity"}]} +{"alt_ids":[],"definition":"A form of watery eye associated with obstruction of the nasolacrimal system. This may arise at the level of the punctum, the canaliculi, the sac or the nasolacrimal duct.","id":"HP:0031881","name":"Decreased tear drainage","obsolete":false,"parents":["HP:0009926"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm.","id":"HP:0031882","name":"Agyria","obsolete":false,"parents":["HP:0001339"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Agyria diffuse"}]} +{"alt_ids":[],"definition":"An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation.","id":"HP:0031883","name":"Increased proinsulin:insulin ratio","obsolete":false,"parents":["HP:0011014"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from normal concentration of glucose content in the cerebrospinal fluid.","id":"HP:0031884","name":"Abnormal CSF glucose concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal CSF glucose level"}]} +{"alt_ids":[],"definition":"Abnormally high glucose concentration in the cerebrospinal fluid.","id":"HP:0031885","name":"Hyperglycorrhachia","obsolete":false,"parents":["HP:0031884"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased CSF glucose"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation.","id":"HP:0031886","name":"Abnormal LDL cholesterol concentration","obsolete":false,"parents":["HP:0010979"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal LDL-C concentration"},{"scope":"EXACT","text":"Abnormal LDL-C level"},{"scope":"EXACT","text":"Abnormal LDLc concentration"}]} +{"alt_ids":[],"definition":"Any deviation from the normal circulating concentration of chylomicrons.","id":"HP:0031887","name":"Abnormal chylomicron concentration","obsolete":false,"parents":["HP:0010979"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of high-density lipoprotein (HDL) cholesterol in the blood circulation.","id":"HP:0031888","name":"Abnormal circulating HDL-C concentration","obsolete":false,"parents":["HP:0010979"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal high-density lipoprotein cholesterol level"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood circulation.","id":"HP:0031889","name":"Abnormal circulating VLDL-C concentration","obsolete":false,"parents":["HP:0010979"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal very-low-density lipoprotein cholesterol level"}]} +{"alt_ids":[],"definition":"An elevated concentration of urobilinogen in the urine.","id":"HP:0031890","name":"Increased urine urobilinogen","obsolete":false,"parents":["HP:0032472"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal decrease of absolute number of eosinophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.","id":"HP:0031891","name":"Decreased total eosinophil count","obsolete":false,"parents":["HP:0020064"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased eosinophil count"}]} +{"alt_ids":[],"definition":"Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells.","id":"HP:0031898","name":"Rouleaux formation","obsolete":false,"parents":["HP:0001877"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased rouleaux formation"}]} +{"alt_ids":[],"definition":"Any deviation from the activity of coagulation factor V.","id":"HP:0031899","name":"Abnormal coagulation factor V activity","obsolete":false,"parents":["HP:0010990"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal factor V activity"}]} +{"alt_ids":[],"definition":null,"id":"HP:0031900","name":"obsolete Abnormal serum tryptase concentration","obsolete":true,"parents":[],"replaced_by":["HP:0031901"],"synonyms":[]} +{"alt_ids":["HP:0031900"],"definition":"An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation.","id":"HP:0031901","name":"Elevated total serum tryptase","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0031902","name":"obsolete Decreased serum mast cell beta-tryptase concentration","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal circulating concentration of selenium.","id":"HP:0031903","name":"Abnormal circulating selenium concentration","obsolete":false,"parents":["HP:0430071"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal serum selenium concentration"}]} +{"alt_ids":[],"definition":"Any deviation from the normal total hemolytic complement activity in the circulation.","id":"HP:0031904","name":"Abnormal total hemolytic complement activity","obsolete":false,"parents":["HP:0005339"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal CH50"}]} +{"alt_ids":[],"definition":"An abnormally elevated total hemolytic complement activity in the circulation.","id":"HP:0031905","name":"Increased total hemolytic complement activity","obsolete":false,"parents":["HP:0031904"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0031906","name":"obsolete Decreased total hemolytic complement activity","obsolete":true,"parents":[],"replaced_by":["HP:0025434"],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum.","id":"HP:0031907","name":"Anti-mitochondrial M2 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"AMA-M2 positive"},{"scope":"NARROW","text":"Anti-pyruvate dehydrogenase antibody positivity"}]} +{"alt_ids":[],"definition":"Abnormally small-sized handwriting is formally defined as an impairment of fine motor skills, which mainly manifests as a progressive or stable reduction in amplitude during a writing task.","id":"HP:0031908","name":"Micrographia","obsolete":false,"parents":["HP:0011446"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn.","id":"HP:0031909","name":"Unicornuate uterus","obsolete":false,"parents":["HP:0031105"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.","id":"HP:0031910","name":"Abnormal cranial nerve physiology","obsolete":false,"parents":["HP:0012638"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0031911","name":"Abnormal fifth cranial nerve physiology","obsolete":false,"parents":["HP:0031910"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth.","id":"HP:0031912","name":"Trigeminal anesthesia","obsolete":false,"parents":["HP:0031911"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Trigeminal anaesthesia"}]} +{"alt_ids":[],"definition":"Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis.","id":"HP:0031913","name":"Rhombencephalosynapsis","obsolete":false,"parents":["HP:0001317"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Varying irregularly over time in severity, amount, or amplitude.","id":"HP:0031914","name":"Fluctuating","obsolete":false,"parents":["HP:0011008"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This modifier can be applied to a phenotypic feature that does not vary in severity or amount over time.","id":"HP:0031915","name":"Stable","obsolete":false,"parents":["HP:0011008"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An open sore on the surface of the skin of a finger or toe.","id":"HP:0031917","name":"Digital ulcer","obsolete":false,"parents":["HP:0200042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts.","id":"HP:0031918","name":"Ovarian sex cord-stromal tumor","obsolete":false,"parents":["HP:0100615"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ovarian sex cord-stromal tumour"}]} +{"alt_ids":[],"definition":"Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occurring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type.","id":"HP:0031919","name":"Juvenile type ovarian granulosa cell tumor","obsolete":false,"parents":["HP:0031918"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Juvenile type ovarian granulosa cell tumour"},{"scope":"EXACT","text":"Ovarian juvenile granulosa cell tumor"},{"scope":"EXACT","text":"Ovarian juvenile granulosa cell tumour"}]} +{"alt_ids":[],"definition":"An aggressive granulosa cell tumor that arises from the ovary.","id":"HP:0031920","name":"Malignant ovarian granulosa cell tumor","obsolete":false,"parents":["HP:0100615"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Malignant ovarian granulosa cell tumour"}]} +{"alt_ids":[],"definition":"Pain of the gastrocnemius muscle.","id":"HP:0031921","name":"Gastrocnemius myalgia","obsolete":false,"parents":["HP:0003326"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Calf muscle pain"},{"scope":"EXACT","text":"Calf myalgia"}]} +{"alt_ids":[],"definition":"The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body.","id":"HP:0031922","name":"Renal artery duplication","obsolete":false,"parents":["HP:0008776"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Accessory renal artery"},{"scope":"EXACT","text":"Double renal artery"}]} +{"alt_ids":[],"definition":"Accumulation of blood in the vagina usually due to vaginal obstruction.","id":"HP:0031923","name":"Hematocolpos","obsolete":false,"parents":["HP:0000142"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Haematocolpos"}]} +{"alt_ids":[],"definition":"The presence of linear erythematous palpable cords, often on the lateral trunk.","id":"HP:0031924","name":"Rope sign","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A halo or spoke-wheel arrangement of cells surrounding a central core or hub. The central hub may consist of an empty-appearing lumen or a space filled with cytoplasmic processes. The cytoplasm of each of the cells in the rosette is often wedge-shaped with the apex directed toward the central core; the nuclei of the cells participating in the rosette are peripherally positioned and form a ring or halo around the hub.","id":"HP:0031925","name":"Rosette","obsolete":false,"parents":["HP:0025461"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of rosette in which the central lumen or hub is filled with fiber-like processes.","id":"HP:0031926","name":"Homer Wright rosette","obsolete":false,"parents":["HP:0031925"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The tumor cells that form the Flexner-Wintersteiner rosette circumscribe a central lumen that contains small cytoplasmic extensions of the encircling cells; however, unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil.","id":"HP:0031927","name":"Flexner-Wintersteiner rosette","obsolete":false,"parents":["HP:0031925"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of rosette in which a halo of cells surrounds an empty lumen.","id":"HP:0031928","name":"True ependymal rosette","obsolete":false,"parents":["HP:0031925"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of rosette in which a spoke-wheel arrangement of cells with tapered cellular processes radiates around a wall of a centrally placed vessel.","id":"HP:0031929","name":"Perivascular pseudorosette","obsolete":false,"parents":["HP:0031925"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular.","id":"HP:0031930","name":"Neurocytic rosette","obsolete":false,"parents":["HP:0031925"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pineocytomatous rosette"}]} +{"alt_ids":[],"definition":"Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behavior and its occurrence may be favored by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation.","id":"HP:0031931","name":"Ocular flutter","obsolete":false,"parents":["HP:0012547","HP:0032104"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left or right ventricular cavity.","id":"HP:0031932","name":"Aorto-left ventricular tunnel","obsolete":false,"parents":["HP:0011627"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Left ventricle to aorta tunnel"}]} +{"alt_ids":[],"definition":"The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle.","id":"HP:0031933","name":"Aorto-right ventricular tunnel","obsolete":false,"parents":["HP:0011627"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Right ventricle to aorta tunnel"}]} +{"alt_ids":[],"definition":"A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen.","id":"HP:0031934","name":"Abnormal descending aorta morphology","obsolete":false,"parents":["HP:0001679"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Significant luminal narrowing of a long segment of or the entire ascending aorta.","id":"HP:0031935","name":"Ascending aorta hypoplasia","obsolete":false,"parents":["HP:0031784"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.","id":"HP:0031936","name":"Delayed ability to walk","obsolete":false,"parents":["HP:0002194"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delayed walking"}]} +{"alt_ids":[],"definition":"Speech that is abnormally fast as compared to the perceived cultural norm.","id":"HP:0031937","name":"Tachylalia","obsolete":false,"parents":["HP:5200011"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fast speech"},{"scope":"EXACT","text":"Tachylogia"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae).","id":"HP:0031938","name":"Abnormal conus terminalis morphology","obsolete":false,"parents":["HP:0002143"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal conus medullaris morphology"}]} +{"alt_ids":[],"definition":null,"id":"HP:0031939","name":"Conus terminalis arteriovenous malformation","obsolete":false,"parents":["HP:0031938"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the portal venous system, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins.","id":"HP:0031941","name":"Abnormal portal venous system morphology","obsolete":false,"parents":["HP:0006707"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts.","id":"HP:0031942","name":"Congenital absence of portal vein","obsolete":false,"parents":["HP:0031941"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CAPV"},{"scope":"EXACT","text":"Missing portal vein"}]} +{"alt_ids":[],"definition":"A state of motor restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria.","id":"HP:0031943","name":"Akathisia","obsolete":false,"parents":["HP:0000711","HP:0004305"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in the thickness of the pleura, generally related to scarring of the pleural tissue.","id":"HP:0031944","name":"Pleural thickening","obsolete":false,"parents":["HP:0002103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pleural incrassation"}]} +{"alt_ids":[],"definition":"An increased concentration of N,N-dimethylglycine in the circulation.","id":"HP:0031945","name":"Elevated circulating N,N-dimethylglycine concentration","obsolete":false,"parents":["HP:0033109"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated N,N-dimethylglycine level"}]} +{"alt_ids":[],"definition":"An increased concentration of N,N-dimethylglycine in the urine.","id":"HP:0031946","name":"Elevated urinary N,N-dimethylglycine level","obsolete":false,"parents":["HP:0033098"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unintentional, oscillating to-and-fro muscle movement affecting the tongue.","id":"HP:0031947","name":"Tongue tremor","obsolete":false,"parents":["HP:0030188"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Jerky movements of the tongue"}]} +{"alt_ids":[],"definition":"Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome.","id":"HP:0031948","name":"Snowball lesion of corpus callosum","obsolete":false,"parents":["HP:0001273"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).","id":"HP:0031949","name":"Recurrent bacterial upper respiratory tract infections","obsolete":false,"parents":["HP:0002788"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent bacterial URI"}]} +{"alt_ids":[],"definition":"Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing.","id":"HP:0031950","name":"Usual interstitial pneumonia","obsolete":false,"parents":["HP:0006530"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Seizures that occur while the affected individual is sleeping.","id":"HP:0031951","name":"Nocturnal seizures","obsolete":false,"parents":["HP:0001250"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sleep seizures"}]} +{"alt_ids":[],"definition":"Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine.","id":"HP:0031952","name":"Neurogenic claudication","obsolete":false,"parents":["HP:0001288"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen.","id":"HP:0031953","name":"Cautious gait","obsolete":false,"parents":["HP:0001288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Senile gait"}]} +{"alt_ids":[],"definition":"Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients.","id":"HP:0031954","name":"Dystonic gait","obsolete":false,"parents":["HP:0001288"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position.","id":"HP:0031955","name":"Antalgic gait","obsolete":false,"parents":["HP:0001288"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Limp"}]} +{"alt_ids":[],"definition":"The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.","id":"HP:0031956","name":"Elevated circulating aspartate aminotransferase concentration","obsolete":false,"parents":["HP:0002910"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aspartate aminotransferase increased"},{"scope":"EXACT","text":"Elevated serum AST"},{"scope":"EXACT","text":"Elevated serum aspartate aminotransferase"},{"scope":"EXACT","text":"Elevated serum glutamic oxaloacetic transaminase"}]} +{"alt_ids":[],"definition":"Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster.","id":"HP:0031957","name":"Spastic hemiparetic gait","obsolete":false,"parents":["HP:0002064"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wernicke-Mann gait"}]} +{"alt_ids":[],"definition":"A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait.","id":"HP:0031958","name":"Spastic paraparetic gait","obsolete":false,"parents":["HP:0002064"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs.","id":"HP:0031959","name":"Leg dystonia","obsolete":false,"parents":["HP:0002451"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms.","id":"HP:0031960","name":"Arm dystonia","obsolete":false,"parents":["HP:0002451"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration.","id":"HP:0031961","name":"Abnormal serum anion gap","obsolete":false,"parents":["HP:0004360"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).","id":"HP:0031962","name":"Elevated serum anion gap","obsolete":false,"parents":["HP:0031961"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).","id":"HP:0031963","name":"Decreased serum anion gap","obsolete":false,"parents":["HP:0031961"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally high concentration in the circulation of alanine aminotransferase (ALT).","id":"HP:0031964","name":"Elevated circulating alanine aminotransferase concentration","obsolete":false,"parents":["HP:0002910"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Alanine aminotransferase increased"},{"scope":"EXACT","text":"Elevated serum ALT"},{"scope":"EXACT","text":"Elevated serum alanine aminotransferase"},{"scope":"EXACT","text":"Elevated serum glutamic-pyruvic transaminase"}]} +{"alt_ids":[],"definition":"Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage.","id":"HP:0031965","name":"Increased RBC distribution width","obsolete":false,"parents":["HP:0001877"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased red blood cell distribution width"}]} +{"alt_ids":[],"definition":"The appearance of the urine having visible material in suspension, i.e., appearing cloudy.","id":"HP:0031967","name":"Cloudy urine","obsolete":false,"parents":["HP:0033072"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Turbid urine"}]} +{"alt_ids":[],"definition":"An abnormally low concentration of urea nitrogen in the blood.","id":"HP:0031969","name":"Reduced blood urea nitrogen","obsolete":false,"parents":["HP:0031970"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced BUN"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of urea nitrogen in the blood.","id":"HP:0031970","name":"Abnormal blood urea nitrogen concentration","obsolete":false,"parents":["HP:0004364"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal BUN concentration"}]} +{"alt_ids":[],"definition":"A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy.","id":"HP:0031971","name":"Subaortic ventricular septal bulge","obsolete":false,"parents":["HP:0011103"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause.","id":"HP:0031972","name":"Presyncope","obsolete":false,"parents":["HP:0011025"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disk.","id":"HP:0031973","name":"Increased vertical cup-to-disc ratio","obsolete":false,"parents":["HP:0012796"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.6 (The normal cup-to-disc ratio is 0.3).","id":"HP:0031974","name":"Increased vertical cup-to-disc ratio - 0.6","obsolete":false,"parents":["HP:0031973"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.7 (The normal cup-to-disc ratio is 0.3).","id":"HP:0031975","name":"Increased vertical cup-to-disc ratio - 0.7","obsolete":false,"parents":["HP:0031973"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.8 (The normal cup-to-disc ratio is 0.3).","id":"HP:0031976","name":"Increased vertical cup-to-disc ratio - 0.8","obsolete":false,"parents":["HP:0031973"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.9 (The normal cup-to-disc ratio is 0.3).","id":"HP:0031977","name":"Increased vertical cup-to-disc ratio - 0.9","obsolete":false,"parents":["HP:0031973"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Ratio of the height of the cup of the optic nerve head to the height of the disk is 1.0 (The normal cup-to-disc ratio is 0.3).","id":"HP:0031978","name":"Increased vertical cup-to-disc ratio - 1.0","obsolete":false,"parents":["HP:0031973"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of a carbohydrate in the urine.","id":"HP:0031979","name":"Abnormal urine carbohydrate level","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of a carboxylic acid in the urine.","id":"HP:0031980","name":"Abnormal urine carboxylic acid level","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of glycolate in the urine.","id":"HP:0031981","name":"Elevated urine glycolate","obsolete":false,"parents":["HP:0031980"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum.","id":"HP:0031982","name":"Abnormal putamen morphology","obsolete":false,"parents":["HP:0010994"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density.","id":"HP:0031983","name":"Abnormal pulmonary thoracic imaging finding","obsolete":false,"parents":["HP:0012252"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal chest radiograph finding (lung)"}]} +{"alt_ids":[],"definition":"A piece of food that has gotten stuck in the esophagus and prevents further swallowing.","id":"HP:0031984","name":"Esophageal food impaction","obsolete":false,"parents":["HP:0002031"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa.","id":"HP:0031985","name":"Esophageal exudate","obsolete":false,"parents":["HP:0002031"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Minipolymyoclonus or polyminimyoclonus is a hyperkinetic movement disorder phenomenology characterized by intermittent, low-amplitude, arrhythmic movements of the hands, commonly of several fingers, with amplitudes just sufficient to produce visible and palpable movements of the joints. It is mostly noticed while the individual is maintaining a posture (commonly outstretched hands) or during action (especially the initial phase of movement).","id":"HP:0031986","name":"Polyminimyoclonus","obsolete":false,"parents":["HP:0001336"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Facial-faucial-finger minimyoclonus"},{"scope":"EXACT","text":"Minipolymyoclonus"}]} +{"alt_ids":[],"definition":"The inability to focus or concentrate on a specific task, activity, or object. The subject may find themselves unable to grasp or understand written text and re-reads frequently without understanding. Familiar tasks or activities are severely compromised due to the lack of ability to concentrate. Thinking through multi-step problems is typically very difficult or impossible, leading to avoidance of such activities.","id":"HP:0031987","name":"Diminished ability to concentrate","obsolete":false,"parents":["HP:0025769","HP:5200044"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Concentration problems"},{"scope":"EXACT","text":"Labored thinking"},{"scope":"EXACT","text":"Lack of concentration"},{"scope":"EXACT","text":"Poor concentration"}]} +{"alt_ids":[],"definition":null,"id":"HP:0031988","name":"obsolete Muscle spasm","obsolete":true,"parents":[],"replaced_by":["HP:0003394"],"synonyms":[]} +{"alt_ids":[],"definition":"A sudden involuntary contraction of the musculature surrounding the mouth.","id":"HP:0031989","name":"Perioral spasm","obsolete":false,"parents":["HP:0003394"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve.","id":"HP:0031990","name":"Chvostek sign","obsolete":false,"parents":["HP:0004305"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption.","id":"HP:0031991","name":"Increased urinary excretion of galactosyl hydroxylysine","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity.","id":"HP:0031992","name":"Apical hypertrophic cardiomyopathy","obsolete":false,"parents":["HP:0001639"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test.","id":"HP:0031993","name":"Hoffmann sign","obsolete":false,"parents":["HP:0007256"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hoffmann's sign"}]} +{"alt_ids":[],"definition":"Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy.","id":"HP:0031994","name":"Bronchial breath sound","obsolete":false,"parents":["HP:0030829"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Squawks are short inspiratory wheezes of less than 200 ms duration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and are often preceded by late inspiratory crackles.","id":"HP:0031995","name":"Squawks","obsolete":false,"parents":["HP:0030828"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Crackles that are heard during the inspiratory phase.","id":"HP:0031996","name":"Inspiratory crackles","obsolete":false,"parents":["HP:0030830"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Crackles that appear at the beginning of inspiration and end before mid-inspiration.","id":"HP:0031997","name":"Early inspiratory crackles","obsolete":false,"parents":["HP:0031996"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Crackles that appear any time after the beginning of inspiration and last till the end of inspiration.","id":"HP:0031998","name":"Late inspiratory crackles","obsolete":false,"parents":["HP:0031996"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Crackles that occur during expiration.","id":"HP:0031999","name":"Expiratory crackles","obsolete":false,"parents":["HP:0030830"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles","id":"HP:0032000","name":"Pleural rub","obsolete":false,"parents":["HP:0030829"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal pink color of urine.","id":"HP:0032001","name":"Pink urine","obsolete":false,"parents":["HP:0012086"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal orange color of urine.","id":"HP:0032002","name":"Orange urine","obsolete":false,"parents":["HP:0012086"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal green color of urine.","id":"HP:0032003","name":"Green urine","obsolete":false,"parents":["HP:0012086"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A sensation of itching in the vulvar region.","id":"HP:0032004","name":"Pruritus vulvae","obsolete":false,"parents":["HP:0000989"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg.","id":"HP:0032005","name":"Hemidystonia","obsolete":false,"parents":["HP:0001332"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unintentional, oscillating to-and-fro muscle movement affecting the lip.","id":"HP:0032006","name":"Lip tremor","obsolete":false,"parents":["HP:0030188"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue.","id":"HP:0032007","name":"Maceration","obsolete":false,"parents":["HP:0011121"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Maceration of the skin"},{"scope":"EXACT","text":"Skin maceration"}]} +{"alt_ids":[],"definition":"The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung.","id":"HP:0032008","name":"Pulmonary fat embolism","obsolete":false,"parents":["HP:0002204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fat embolism"}]} +{"alt_ids":[],"definition":"Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities.","id":"HP:0032009","name":"Infantile constant exotropia","obsolete":false,"parents":["HP:0031713"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Infantile (constant) exotropia"}]} +{"alt_ids":[],"definition":"Constant exotropia for near and distance, presenting after 6 months of age.","id":"HP:0032010","name":"Basic constant exotropia","obsolete":false,"parents":["HP:0031713"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Basic (constant) exotropia"}]} +{"alt_ids":[],"definition":"Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs.","id":"HP:0032011","name":"Heterophoria","obsolete":false,"parents":["HP:0000486"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Manifest deviation of the visual axes not controlled by fusion.","id":"HP:0032012","name":"Heterotropia","obsolete":false,"parents":["HP:0000486"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Overshoot of horizontal (sideways) saccadic eye movements.","id":"HP:0032013","name":"Hypermetric horizontal saccades","obsolete":false,"parents":["HP:0007338"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction.","id":"HP:0032014","name":"Dysmetric vertical saccades","obsolete":false,"parents":["HP:0000641"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction.","id":"HP:0032015","name":"Dysmetric horizontal saccades","obsolete":false,"parents":["HP:0000641"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin.","id":"HP:0032016","name":"Abnormal sputum","obsolete":false,"parents":["HP:0012252"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal sputum morphology"}]} +{"alt_ids":[],"definition":"An increased proportion of eosinophils in sputum in the differentiated cell count.","id":"HP:0032017","name":"Sputum eosinophilia","obsolete":false,"parents":["HP:0032016"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of peripheral neuropathy that happens when there is damage to two or more different nerve areas characterized by peripheral neuropathy of both the motor and sensory nerves of at least two different nerve trunks. Different nerves are affected either simultaneously or sequentially.","id":"HP:0032018","name":"Multiple mononeuropathy","obsolete":false,"parents":["HP:0009830"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mononeuritis multiplex"}]} +{"alt_ids":[],"definition":"Eosinophil infiltration of skeletal muscle.","id":"HP:0032019","name":"Muscle eosinophilia","obsolete":false,"parents":["HP:0011805"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eosinophilic infiltration of skeletal muscle"}]} +{"alt_ids":[],"definition":"Transmural inflammation of the bladder predominantly with eosinophils, associated with fibrosis with or without muscle necrosis.","id":"HP:0032020","name":"Eosinophilic bladder infiltration","obsolete":false,"parents":["HP:0025487"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eosinophilic cystitis"}]} +{"alt_ids":[],"definition":"Cellular infiltration of the liver parenchyma with a preponderance of eosinophils.","id":"HP:0032021","name":"Eosinophilic liver infiltration","obsolete":false,"parents":["HP:0030146","HP:0032064"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Eosinophilic hepatitis"}]} +{"alt_ids":[],"definition":"Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils.","id":"HP:0032022","name":"Eosinophilic dermal infiltration","obsolete":false,"parents":["HP:0011123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eosinophilic dermatitis"}]} +{"alt_ids":[],"definition":"Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination.","id":"HP:0032023","name":"Eosinophilic gallbladder infiltration","obsolete":false,"parents":["HP:0012437","HP:0032064"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eosinophilic cholecystitis"}]} +{"alt_ids":[],"definition":"An erosion of the mucous membrane in a portion of the ileum.","id":"HP:0032024","name":"Ileal ulcer","obsolete":false,"parents":["HP:0001549","HP:0034274"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of alpha-1-antitrypsin in the blood circulation is below the lower limit of normal.","id":"HP:0032025","name":"Decreased circulating alpha-1-antitrypsin concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased alpha-1-antitrypsin concentration"},{"scope":"EXACT","text":"Decreased alpha-1-antitrypsin level"},{"scope":"EXACT","text":"Decreased alpha-1-antitrypsin level in blood"},{"scope":"EXACT","text":"Reduced alpha-1-antitrypsin concentration"},{"scope":"EXACT","text":"Reduced alpha-1-antitrypsin level"},{"scope":"EXACT","text":"Reduced alpha-1-antitrypsin level in blood"},{"scope":"EXACT","text":"Reduced serum alpha-1-antitrypsin"}]} +{"alt_ids":[],"definition":"Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis.","id":"HP:0032026","name":"Anetoderma","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.","id":"HP:0032027","name":"Retinal dots","obsolete":false,"parents":["HP:0030506"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Yellow, white or grayish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size.","id":"HP:0032028","name":"Macular dots","obsolete":false,"parents":["HP:0030500"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis.","id":"HP:0032029","name":"Floppy eyelid","obsolete":false,"parents":["HP:0031880"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Laxity of the tendon stabilizing the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearance of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed.","id":"HP:0032030","name":"Lateral canthal tendon laxity","obsolete":false,"parents":["HP:0031880"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Laxity of the tendon stabilizing the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally.","id":"HP:0032031","name":"Medial canthal tendon laxity","obsolete":false,"parents":["HP:0031880"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distraction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present.","id":"HP:0032032","name":"Horizontal eyelid laxity","obsolete":false,"parents":["HP:0031880"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilizing structures (e.g. lower lid retractors) or tarsal atrophy are often present.","id":"HP:0032033","name":"Vertical eyelid laxity","obsolete":false,"parents":["HP:0031880"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally lax upper eyelid associated with tissue relaxation.","id":"HP:0032034","name":"Upper eyelid laxity","obsolete":false,"parents":["HP:0031880"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally lax lower eyelid associated with tissue relaxation.","id":"HP:0032035","name":"Lower eyelid laxity","obsolete":false,"parents":["HP:0031880"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target.","id":"HP:0032036","name":"Reduced contrast sensitivity","obsolete":false,"parents":["HP:0000504"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal contrast sensitivity"}]} +{"alt_ids":[],"definition":"Mild reduction of the ability to see. On the 6m visual acuity scale, mild reduction is defined as less than 6/12 but at least 6/18. On the 20ft visual acuity scale, mild reduction is defined as less than 20/40 but at least 20/70. On the decimal visual acuity scale, mild reduction is defined as less than 0.5 but at least 0.3.","id":"HP:0032037","name":"Mildly reduced visual acuity","obsolete":false,"parents":["HP:0007663"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mild reduction in visual acuity"},{"scope":"EXACT","text":"Mild vision loss"},{"scope":"EXACT","text":"Mild visual loss"}]} +{"alt_ids":[],"definition":"An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.","id":"HP:0032039","name":"Abnormality of the ocular adnexa","obsolete":false,"parents":["HP:0000315"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.","id":"HP:0032040","name":"Abnormal ocular adnexa physiology","obsolete":false,"parents":["HP:0032039"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A small growth on a vocal cord that may appear as pedunculated or sessile and have varying size, shape, and color.","id":"HP:0032041","name":"Vocal cord polyp","obsolete":false,"parents":["HP:0008777"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pain experienced with swallowing.","id":"HP:0032043","name":"Odynophagia","obsolete":false,"parents":["HP:0012719"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Painful swallowing"}]} +{"alt_ids":[],"definition":"A decrease in the ability to maintain sustained attention is characterized by reduced alertness.","id":"HP:0032044","name":"Decreased vigilance","obsolete":false,"parents":["HP:0004372"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased alertness"}]} +{"alt_ids":[],"definition":"Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.","id":"HP:0032045","name":"Hypoplastic carotid canal","obsolete":false,"parents":["HP:0009911"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons.","id":"HP:0032046","name":"Focal cortical dysplasia","obsolete":false,"parents":["HP:0002539"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal cortical dysplasia that is characterized by abnormal cortical layering.","id":"HP:0032047","name":"Focal cortical dysplasia type I","obsolete":false,"parents":["HP:0032046"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination.","id":"HP:0032048","name":"Focal cortical dysplasia type Ia","obsolete":false,"parents":["HP:0032047"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination.","id":"HP:0032049","name":"Focal cortical dysplasia type Ib","obsolete":false,"parents":["HP:0032047"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination.","id":"HP:0032050","name":"Focal cortical dysplasia type Ic","obsolete":false,"parents":["HP:0032049"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities.","id":"HP:0032051","name":"Focal cortical dysplasia type II","obsolete":false,"parents":["HP:0032046"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins.","id":"HP:0032052","name":"Focal cortical dysplasia type IIa","obsolete":false,"parents":["HP:0032051"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells.","id":"HP:0032053","name":"Focal cortical dysplasia type IIb","obsolete":false,"parents":["HP:0032051"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe.","id":"HP:0032054","name":"Focal cortical dysplasia type III","obsolete":false,"parents":["HP:0032046"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organization (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis).","id":"HP:0032055","name":"Focal cortical dysplasia type IIIa","obsolete":false,"parents":["HP:0032054"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor.","id":"HP:0032056","name":"Focal cortical dysplasia type IIIb","obsolete":false,"parents":["HP:0032054"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis).","id":"HP:0032057","name":"Focal cortical dysplasia type IIIc","obsolete":false,"parents":["HP:0032054"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections.","id":"HP:0032058","name":"Focal cortical dysplasia type IIId","obsolete":false,"parents":["HP:0032054"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter.","id":"HP:0032059","name":"Mild malformation of cortical development","obsolete":false,"parents":["HP:0002539"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign neoplasm that includes blood vessel proliferation and a dense eosinophilic inflammatory infiltrate, manifesting as flesh/plum-colored pruritic nodules and papules, most commonly affecting the ear and the periauricular area.","id":"HP:0032060","name":"Epithelioid hemangioma","obsolete":false,"parents":["HP:0001028"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Angiolymphoid hyperplasia with eosinophilia"}]} +{"alt_ids":[],"definition":"Severe increase in circulating eosinophils, usually characterized as more than 1500 eosinophils per microlitre.","id":"HP:0032061","name":"Severely increased total eosinophil count","obsolete":false,"parents":["HP:0001880"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypereosinophilia"}]} +{"alt_ids":[],"definition":"Vomiting-induced mucosal laceration at the esophago-gastric junction.","id":"HP:0032062","name":"Mallory-Weiss tear","obsolete":false,"parents":["HP:0002031"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal accumulation of fluid in or around the ankle joint.","id":"HP:0032063","name":"Ankle joint effusion","obsolete":false,"parents":["HP:0034673"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them.","id":"HP:0032064","name":"Gastrointestinal eosinophilia","obsolete":false,"parents":["HP:0012718"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eosinophilic enteritis"},{"scope":"EXACT","text":"Eosinophilic gastroenteritis"},{"scope":"RELATED","text":"Eosinophilic gastrointestinal disease"},{"scope":"RELATED","text":"Eosinophilic gastrointestinal disorders"},{"scope":"EXACT","text":"GI eosinophilia"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation.","id":"HP:0032065","name":"Abnormal circulating bicarbonate concentration","obsolete":false,"parents":["HP:0004360","HP:0020330"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal serum HCO3 concentration"},{"scope":"EXACT","text":"Abnormal serum bicarbonate concentration"}]} +{"alt_ids":[],"definition":"An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation.","id":"HP:0032066","name":"Decreased serum bicarbonate concentration","obsolete":false,"parents":["HP:0032065"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased serum HCO3 concentration"}]} +{"alt_ids":[],"definition":"An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation.","id":"HP:0032067","name":"Elevated serum bicarbonate concentration","obsolete":false,"parents":["HP:0032065"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated serum HCO3 concentration"}]} +{"alt_ids":[],"definition":"An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate conditions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinalysis.","id":"HP:0032068","name":"Increased urinary mucus","obsolete":false,"parents":["HP:0033072"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.","id":"HP:0032069","name":"Anti-thyroglobulin antibody positivity","obsolete":false,"parents":["HP:0430050"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-thyroid globulin antibody positivity"},{"scope":"EXACT","text":"TgAbs"}]} +{"alt_ids":[],"definition":"Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis.","id":"HP:0032070","name":"Leptomeningeal enhancement","obsolete":false,"parents":["HP:0010651"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of eosinophils in lung tissue, generally as detected by tissue biopsy, with or without blood eosinophilia.","id":"HP:0032071","name":"Eosinophilic pneumonia","obsolete":false,"parents":["HP:0006530"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eosinophilic pulmonary infiltration"},{"scope":"RELATED","text":"Pulmonary eosinophilia"},{"scope":"EXACT","text":"Pulmonary eosinophilic infiltrate"},{"scope":"EXACT","text":"Pulmonary eosinophilic infiltration"}]} +{"alt_ids":[],"definition":"A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle.","id":"HP:0032072","name":"Popliteal synovial cyst","obsolete":false,"parents":["HP:0034669"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Baker's cyst"}]} +{"alt_ids":[],"definition":"Aplasia, that is failure to develop, of the fallopian tube.","id":"HP:0032073","name":"Aplasia of the fallopian tube","obsolete":false,"parents":["HP:0008655"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fusion of the pancreatic tail and spleen.","id":"HP:0032075","name":"Splenopancreatic fusion","obsolete":false,"parents":["HP:0012090","HP:0025408"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0032076","name":"Abnormal male urethral meatus morphology","obsolete":false,"parents":["HP:0000036"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal narrowing of the urethral opening (meatus) of the penis.","id":"HP:0032077","name":"Male urethral meatus stenosis","obsolete":false,"parents":["HP:0008661","HP:0032076"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Meatal stenosis"},{"scope":"EXACT","text":"Meatus stenosis"}]} +{"alt_ids":[],"definition":"A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head).","id":"HP:0032078","name":"Angel-shaped phalanx","obsolete":false,"parents":["HP:0005918"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections.","id":"HP:0032079","name":"Medial degeneration","obsolete":false,"parents":["HP:0001679"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units.","id":"HP:0032081","name":"Intralamellar mucoid extracellular matrix accumulation","obsolete":false,"parents":["HP:0200146"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees.","id":"HP:0032082","name":"Translamellar mucoid extracellular matrix accumulation","obsolete":false,"parents":["HP:0200146"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers.","id":"HP:0032083","name":"Aortic elastic fiber fragmentation","obsolete":false,"parents":["HP:0032079"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aortic elastic fibre fragmentation"}]} +{"alt_ids":[],"definition":"A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers.","id":"HP:0032084","name":"Aortic elastic fiber thinning","obsolete":false,"parents":["HP:0032079"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aortic elastic fibre thinning"}]} +{"alt_ids":[],"definition":"Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers.","id":"HP:0032085","name":"Aortic elastic fiber disorganization","obsolete":false,"parents":["HP:0032079"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aortic elastic fibre disorganisation"}]} +{"alt_ids":[],"definition":"A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain.","id":"HP:0032086","name":"Aortic smooth muscle cell nuclei loss","obsolete":false,"parents":["HP:0032079"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers.","id":"HP:0032087","name":"Aortic laminar medial collapse","obsolete":false,"parents":["HP:0032079"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells.","id":"HP:0032088","name":"Aortic smooth muscle cell disorganization","obsolete":false,"parents":["HP:0032079"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aortic smooth muscle cell disorganisation"}]} +{"alt_ids":[],"definition":"An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units).","id":"HP:0032089","name":"Aortic medial fibrosis","obsolete":false,"parents":["HP:0032079"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units.","id":"HP:0032090","name":"Intralamellar aortic medial fibrosis","obsolete":false,"parents":["HP:0032089"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units.","id":"HP:0032091","name":"Translamellar aortic medial fibrosis","obsolete":false,"parents":["HP:0032089"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle.","id":"HP:0032092","name":"Left ventricular outflow tract obstruction","obsolete":false,"parents":["HP:0005162"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of surfactant protein in the blood circulation is above the upper limit of normal.","id":"HP:0032094","name":"Elevated circulating surfactant protein concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased serum surfactant protein level"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of manganese cation in the blood circulation.","id":"HP:0032096","name":"Abnormal circulating manganese concentration","obsolete":false,"parents":["HP:0010927","HP:0011030"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal manganese cation level"},{"scope":"EXACT","text":"Abnormal manganese concentration"}]} +{"alt_ids":[],"definition":"The concentration of manganese cation in the blood circulation is above the upper limit of normal.","id":"HP:0032097","name":"Hypermanganesemia","obsolete":false,"parents":["HP:0032096"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated manganese cation concentration"},{"scope":"EXACT","text":"Elevated manganese cation level"},{"scope":"EXACT","text":"Elevated manganese cation level in blood"},{"scope":"EXACT","text":"Increased blood manganese concentration"},{"scope":"EXACT","text":"Increased manganese cation concentration"},{"scope":"EXACT","text":"Increased manganese cation level"},{"scope":"EXACT","text":"Increased manganese cation level in blood"}]} +{"alt_ids":[],"definition":"The concentration of manganese cation in the blood circulation is below the lower limit of normal.","id":"HP:0032098","name":"Hypomanganesemia","obsolete":false,"parents":["HP:0032096"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased manganese cation concentration"},{"scope":"EXACT","text":"Decreased manganese cation level"},{"scope":"EXACT","text":"Decreased manganese cation level in blood"},{"scope":"EXACT","text":"Reduced manganese cation concentration"},{"scope":"EXACT","text":"Reduced manganese cation level"},{"scope":"EXACT","text":"Reduced manganese cation level in blood"}]} +{"alt_ids":[],"definition":"The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976).","id":"HP:0032099","name":"Perioral radial furrowing","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage.","id":"HP:0032100","name":"Abnormal doll's eye reflex","obsolete":false,"parents":["HP:0007670"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to infection, as manifested by recurrent infection, severe or invasive infection, infection occurring in an unusual anatomical location, or infection with opportunistic organisms, that is unusual for a healthy individual of the same age.","id":"HP:0032101","name":"Unusual infection","obsolete":false,"parents":["HP:0010978"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Wilson sign is defined as the elicitation of pain by internally rotating the patient's tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia.","id":"HP:0032102","name":"Wilson sign","obsolete":false,"parents":["HP:0030839"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade.","id":"HP:0032104","name":"Saccadic oscillation","obsolete":false,"parents":["HP:0000570"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Saccadic oscillations"}]} +{"alt_ids":["HP:0032117"],"definition":"A type of saccadic oscillations with brief periods of fixation between saccades (intersaccadic interval approximately 200 msec). Macrosaccadic oscillations (up to 40 degrees) straddle the intended fixation position and show a crescendo-decrescendo pattern.","id":"HP:0032105","name":"Macrosaccadic oscillations","obsolete":false,"parents":["HP:0032104"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Macrosaccadic oscillation"}]} +{"alt_ids":[],"definition":"Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease.","id":"HP:0032106","name":"Conjunctival icterus","obsolete":false,"parents":["HP:0000502"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Scleral icterus"},{"scope":"EXACT","text":"Yellow conjunctiva"},{"scope":"EXACT","text":"Yellow sclera"},{"scope":"EXACT","text":"Yellowing of the whites of the eyes"}]} +{"alt_ids":[],"definition":"A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus.","id":"HP:0032107","name":"Limbal stem cell deficiency","obsolete":false,"parents":["HP:0004328"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss.","id":"HP:0032108","name":"Mildly reduced contrast sensitivity","obsolete":false,"parents":["HP:0032036"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mild reduction in contrast sensitivity"}]} +{"alt_ids":[],"definition":"A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss.","id":"HP:0032109","name":"Moderately reduced contrast sensitivity","obsolete":false,"parents":["HP:0032036"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Moderate reduction in contrast sensitivity"}]} +{"alt_ids":[],"definition":"A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss.","id":"HP:0032110","name":"Severely reduced contrast sensitivity","obsolete":false,"parents":["HP:0032036"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test.","id":"HP:0032111","name":"Abnormal Vistech contrast sensitivity test","obsolete":false,"parents":["HP:0032036"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast.","id":"HP:0032112","name":"Abnormal Pelli Robson contrast sensitivity chart test","obsolete":false,"parents":["HP:0032036"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in a monoallelic (e.g. heterozygotes) and biallelic (e.g. homozygotes, compound heterozygotes) state, with similar or differing phenotype severity present dependent on the number of alleles affected.","id":"HP:0032113","name":"Semidominant inheritance","obsolete":false,"parents":["HP:0034345"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Semidominant mode of inheritance"}]} +{"alt_ids":[],"definition":"An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade.","id":"HP:0032114","name":"Saccadic intrusion","obsolete":false,"parents":["HP:0000570"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Horizontal 10-40 degree excursions from fixation and back again.","id":"HP:0032116","name":"Macrosquare-wave jerks","obsolete":false,"parents":["HP:0032114"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0032117","name":"obsolete Macrosaccadic oscillation","obsolete":true,"parents":[],"replaced_by":["HP:0032105"],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the retina of the eye.","id":"HP:0032118","name":"Retinitis","obsolete":false,"parents":["HP:0000479"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0032119","name":"obsolete Narrow angle glaucoma","obsolete":true,"parents":[],"replaced_by":["HP:0012109"],"synonyms":[]} +{"alt_ids":[],"definition":"Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.","id":"HP:0032120","name":"Abnormal peripheral nervous system physiology","obsolete":false,"parents":["HP:0410008"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint.","id":"HP:0032121","name":"Froment sign","obsolete":false,"parents":["HP:0032120"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Froment thumb sign"}]} +{"alt_ids":[],"definition":"A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590).","id":"HP:0032122","name":"Very low visual acuity","obsolete":false,"parents":["HP:0007663"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590).","id":"HP:0032123","name":"Ultra-low vision","obsolete":false,"parents":["HP:0007663"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase or decrease of the unswitched memory B cell subpopulation, commonly characterized as CD27+IgM+, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group.","id":"HP:0032124","name":"Abnormal unswitched memory B cell proportion","obsolete":false,"parents":["HP:0030373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal proportion of non-class-switched memory B cells"},{"scope":"EXACT","text":"Abnormal proportion of unswitched memory B cells"}]} +{"alt_ids":[],"definition":"Abnormal increase of the unswitched memory B cell subpopulation, commonly characterized as CD27+IgM+, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group.","id":"HP:0032125","name":"Increased unswitched memory B cell proportion","obsolete":false,"parents":["HP:0032124"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated proportion of unswitched memory B cells"},{"scope":"EXACT","text":"Increased proportion of non-class-switched memory B cells"},{"scope":"EXACT","text":"Increased proportion of unswitched memory B cells"}]} +{"alt_ids":[],"definition":"Abnormal reduction of the unswitched memory B cell subpopulation, commonly characterized as CD27+IgM+, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group.","id":"HP:0032126","name":"Decreased unswitched memory B cell proportion","obsolete":false,"parents":["HP:0030374","HP:0032124"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased proportion of non-class-switched memory B cells"},{"scope":"EXACT","text":"Decreased proportion of unswitched memory B cells"},{"scope":"EXACT","text":"Reduced proportion of unswitched memory B cells"}]} +{"alt_ids":[],"definition":"Abnormal increase or decrease of plasmablasts, commonly characterized as CD27+CD38hi and sometimes additionally as IgMlowCD24-, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group.","id":"HP:0032127","name":"Abnormal plasmablast proportion","obsolete":false,"parents":["HP:0025539"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase of plasmablasts, commonly characterized as CD27+CD38hi and sometimes additionally as IgMlowCD24-, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group.","id":"HP:0032128","name":"Increased plasmablast proportion","obsolete":false,"parents":["HP:0032127"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal decrease of plasmablasts, commonly characterized as CD27+CD38hi and sometimes additionally as IgMlowCD24-, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group.","id":"HP:0032129","name":"Decreased plasmablast proportion","obsolete":false,"parents":["HP:0032127"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections.","id":"HP:0032130","name":"Mycobacterium abscessus abscessus infection","obsolete":false,"parents":["HP:0032260"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cervical dysplasia is the precursor to cervical cancer. It is caused by the persistent infection of the human papillomavirus (HPV) into the cervical tissue. Affected cells develop morphologic features with immature basaloid- type squamous cells and mitotic figures in the upper half of the cervical epithelium.","id":"HP:0032131","name":"Cervical dysplasia","obsolete":false,"parents":["HP:0012888"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uterine cervix dysplasia"}]} +{"alt_ids":[],"definition":"A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.","id":"HP:0032132","name":"Decreased circulating total IgG concentration","obsolete":false,"parents":["HP:0004315"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating total IgG"}]} +{"alt_ids":[],"definition":"A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.","id":"HP:0032133","name":"Transient decreased circulating total IgG concentration","obsolete":false,"parents":["HP:0032132"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.","id":"HP:0032134","name":"Chronic decreased circulating total IgG concentration","obsolete":false,"parents":["HP:0032132"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic decreased total IgG in blood"}]} +{"alt_ids":[],"definition":"A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood.","id":"HP:0032135","name":"Decreased circulating IgG subclass concentration","obsolete":false,"parents":["HP:0004315"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased IgG subclass level in blood"},{"scope":"EXACT","text":"Decreased circulating IgG subclass level"}]} +{"alt_ids":[],"definition":"A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation.","id":"HP:0032136","name":"Decreased circulating IgG1 concentration","obsolete":false,"parents":["HP:0032135"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased IgG1 level in blood"},{"scope":"EXACT","text":"Decreased circulating IgG1 level"}]} +{"alt_ids":[],"definition":"A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation.","id":"HP:0032137","name":"Decreased circulating IgG3 concentration","obsolete":false,"parents":["HP:0032135"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased IgG3 level in blood"},{"scope":"EXACT","text":"Decreased circulating IgG3 level"}]} +{"alt_ids":[],"definition":"A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation.","id":"HP:0032138","name":"Decreased circulating IgG4 concentration","obsolete":false,"parents":["HP:0032135"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased IgG4 level in blood"},{"scope":"EXACT","text":"Decreased circulating IgG4 level"}]} +{"alt_ids":[],"definition":"Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).","id":"HP:0032139","name":"Decreased circulating isohemagglutinin concentration","obsolete":false,"parents":["HP:0410292"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating isohemagglutinin level"},{"scope":"EXACT","text":"Decreased natural antibody to blood group agents"},{"scope":"EXACT","text":"Partial absence of isohemagglutinins"}]} +{"alt_ids":[],"definition":"A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination.","id":"HP:0032140","name":"Decreased specific antibody response to vaccination","obsolete":false,"parents":["HP:0012475"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck.","id":"HP:0032141","name":"Precordial pain","obsolete":false,"parents":["HP:0100749"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic.","id":"HP:0032142","name":"Fetor hepaticus","obsolete":false,"parents":["HP:0100812"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foetor hepaticus"}]} +{"alt_ids":[],"definition":"An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa.","id":"HP:0032143","name":"Burning mouth","obsolete":false,"parents":["HP:0031815"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit.","id":"HP:0032144","name":"Coffee ground vomitus","obsolete":false,"parents":["HP:0002239"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Coffee grounds emesis"},{"scope":"EXACT","text":"Coffee grounds vomiting"}]} +{"alt_ids":[],"definition":"Wasting of the sural nerve, a sensory nerve in the calf region of the leg.","id":"HP:0032145","name":"Sural nerve atrophy","obsolete":false,"parents":["HP:0045010"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atrophy of sural nerve"}]} +{"alt_ids":[],"definition":"Presence of an abnormal type of hemoglobin characterized by the substitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis.","id":"HP:0032146","name":"HbC hemoglobin","obsolete":false,"parents":["HP:0011902"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Haemoglobin C"},{"scope":"EXACT","text":"HbC haemoglobin"},{"scope":"EXACT","text":"Hemoglobin C"}]} +{"alt_ids":[],"definition":"Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet.","id":"HP:0032147","name":"Erythromelalgia","obsolete":false,"parents":["HP:0012531"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals.","id":"HP:0032148","name":"Episodic pain","obsolete":false,"parents":["HP:0012531"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain.","id":"HP:0032149","name":"Breakthrough pain","obsolete":false,"parents":["HP:0032148"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excruciating burning pain in the rectal area that may be triggered by defecation.","id":"HP:0032150","name":"Paroxysmal rectal pain","obsolete":false,"parents":["HP:0032148","HP:0500005"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Recurrent episodes of marked eosinophilia that resolve spontaneously.","id":"HP:0032151","name":"Episodic eosinophilia","obsolete":false,"parents":["HP:0001880"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0040180"],"definition":"An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.","id":"HP:0032152","name":"Keratosis pilaris","obsolete":false,"parents":["HP:0011121"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Carpet tack sign"},{"scope":"EXACT","text":"Chicken skin"},{"scope":"EXACT","text":"Follicular keratosis"},{"scope":"EXACT","text":"Follicular keratotic plug"},{"scope":"EXACT","text":"Follicular plugging"},{"scope":"EXACT","text":"Hyperkeratosis pilaris"},{"scope":"EXACT","text":"Lichen pilaris"}]} +{"alt_ids":[],"definition":"A partial dislocation of a joint.","id":"HP:0032153","name":"Joint subluxation","obsolete":false,"parents":["HP:0001367"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.","id":"HP:0032154","name":"Aphthous ulcer","obsolete":false,"parents":["HP:0031446"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Canker sore"}]} +{"alt_ids":[],"definition":"A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity.","id":"HP:0032155","name":"Abdominal cramps","obsolete":false,"parents":["HP:0002027"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Loss of sections of skin either spontaneously or after gentle handling.","id":"HP:0032156","name":"Skin detachment","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Detached skin"},{"scope":"EXACT","text":"Epidermal detachment"},{"scope":"EXACT","text":"Skin sloughing"}]} +{"alt_ids":[],"definition":"Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks.","id":"HP:0032157","name":"Recurrent genital herpes","obsolete":false,"parents":["HP:0005353"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unusual infection classified by the affected body part.","id":"HP:0032158","name":"Unusual infection by anatomical site","obsolete":false,"parents":["HP:0032101"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A meningitis caused by fungal infection, with the principal causative organism being Cryptococcus neoformans (cryptococcal meningitis); other causes include Candida and Coccidioides species. A fungal meningitis is most often a manifestation of unusual susceptibility to infection, particularly in severe T-cell deficiencies.","id":"HP:0032159","name":"Fungal meningitis","obsolete":false,"parents":["HP:0001287","HP:0020100"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of fungal meningitis caused by an encapsulated yeast that belongs to the genus Cryptococcus. Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis.","id":"HP:0032160","name":"Cryptococcal meningitis","obsolete":false,"parents":["HP:0032159"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges.","id":"HP:0032161","name":"Coccidioidal meningitis","obsolete":false,"parents":["HP:0032159"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to infection of the skin, nails, or mucous membranes, as manifested by recurrent or severe cutaneous or mucosal infection, or by skin or mucous membrane infection caused by an atypical or opportunistic organism.","id":"HP:0032162","name":"Unusual skin infection","obsolete":false,"parents":["HP:0011123","HP:0032158"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Molluscum contagiosum is a cutaneous viral infection that is commonly observed in both healthy and immunocompromised children. The infection is caused by a member of the Poxviridae family, the molluscum contagiosum virus. Molluscum contagiosum presents as single or multiple small white or flesh-colored papules that typically have a central umbilication. The central umbilication may be difficult to observe in young children and, instead, may bear an appearance similar to an acneiform eruption. The lesions vary in size (from 1 mm to 1 cm in diameter) and are painless, although a subset of patients report pruritus in the area of infection. On average, 11-20 papules appear on the body during the course of infection and generally remains a self-limiting disease. However, in immunosuppressed patients, molluscum contagiosum can be a severe infection with hundreds of lesions developing on the body. Extensive eruption is indicative of an advanced immunodeficiency state.","id":"HP:0032163","name":"Unusual molluscum contagiosum","obsolete":false,"parents":["HP:0034317","HP:5210232"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Molluscum contagiosum"},{"scope":"EXACT","text":"Unusual Molluscum contagiosum infection"}]} +{"alt_ids":[],"definition":"The concentration of folic acid in the blood circulation is above the upper limit of normal.","id":"HP:0032164","name":"Increased circulating folate concentration","obsolete":false,"parents":["HP:0040087"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased blood folate concentration"},{"scope":"EXACT","text":"Increased circulating vitamin B9 concentration"}]} +{"alt_ids":[],"definition":"Placental mesenchymal dysplasia is a rare anomaly characterized by placentomegaly, dilatation of chorionic vessels and hydropic stem villi with cistern-like formation. It is often clinically mistaken for a partial hydatidiform mole but there is no trophoblastic proliferation. P57 immunohistochemical expression is discordant, showing a normal positive expression in the cytotrophoblastic cells, and loss of expression in the stromal cells.","id":"HP:0032165","name":"Placental mesenchymal dysplasia","obsolete":false,"parents":["HP:0100767"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0032166","name":"Unusual gastrointestinal infection","obsolete":false,"parents":["HP:0012719","HP:0032158"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual GI infection"}]} +{"alt_ids":[],"definition":"An infection of the small intestine (enteritis) by clostridium difficile.","id":"HP:0032167","name":"Clostridium difficile enteritis","obsolete":false,"parents":["HP:0032166"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"C. difficile enteritis"}]} +{"alt_ids":[],"definition":"An infection of the colon (colitis) by clostridium difficile.","id":"HP:0032168","name":"Clostridium difficile colitis","obsolete":false,"parents":["HP:0032166"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.","id":"HP:0032169","name":"Severe infection","obsolete":false,"parents":["HP:0032101"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual course of infection"}]} +{"alt_ids":[],"definition":"An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestations including VZV pneumonia, hepatitis, meningitis, and disseminated varicella.","id":"HP:0032170","name":"Severe varicella zoster infection","obsolete":false,"parents":["HP:0031691","HP:5210116"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated herpes zoster"},{"scope":"EXACT","text":"Severe herpes zoster"},{"scope":"EXACT","text":"Severe zoster infection"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the urinary bladder. Bladder pain may be more pronounced with a full bladder and relieved upon urination, but this is not always the case.","id":"HP:0032171","name":"Bladder pain","obsolete":false,"parents":["HP:0012531"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0032172","name":"obsolete Air crescent sign","obsolete":true,"parents":[],"replaced_by":["HP:0033661"],"synonyms":[]} +{"alt_ids":[],"definition":"This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign.","id":"HP:0032173","name":"Continuous diaphragm sign","obsolete":false,"parents":["HP:0031983"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376).","id":"HP:0032174","name":"Tree-in-bud pattern","obsolete":false,"parents":["HP:0033775"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This finding is composed of a ring-shaped opacity representing a dilated bronchus in cross section and a smaller adjacent opacity representing its pulmonary artery, with the combination resembling a signet (or pearl) ring. It is the basic sign of bronchiectasis in pulmonary computed tomography imaging.","id":"HP:0032175","name":"Signet ring sign","obsolete":false,"parents":["HP:0033775"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space.","id":"HP:0032176","name":"Apical pulmonary opacity","obsolete":false,"parents":["HP:0031983"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Apical cap"},{"scope":"EXACT","text":"Apical pleural thickening"}]} +{"alt_ids":[],"definition":"Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia).","id":"HP:0032177","name":"Parenchymal consolidation","obsolete":false,"parents":["HP:0031457"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001).","id":"HP:0032178","name":"Flaky paint dermatosis","obsolete":false,"parents":["HP:0040189"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flaky paint skin appearance"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of globulins in the blood circulation.","id":"HP:0032179","name":"Abnormal circulating globulin concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal circulating globulin level"}]} +{"alt_ids":[],"definition":"An abnormal level of an analyte measured in the blood.","id":"HP:0032180","name":"Abnormal circulating metabolite concentration","obsolete":false,"parents":["HP:0001939"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium.","id":"HP:0032181","name":"Anomalous hepatic venous drainage into the left atrium","obsolete":false,"parents":["HP:0006707"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response.","id":"HP:0032182","name":"Abnormal memory T cell proportion","obsolete":false,"parents":["HP:0025540"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal proportion of CD4+CD29+ cells"},{"scope":"EXACT","text":"Abnormal proportion of memory T cells"}]} +{"alt_ids":[],"definition":"An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood.","id":"HP:0032183","name":"Decreased memory T cell proportion","obsolete":false,"parents":["HP:0032182"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased proportion of CD4+CD29+ cells"},{"scope":"EXACT","text":"Decreased proportion of memory T cells"}]} +{"alt_ids":[],"definition":"An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood.","id":"HP:0032184","name":"Increased memory T cell proportion","obsolete":false,"parents":["HP:0032182"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased proportion of CD4+CD29+ cells"},{"scope":"EXACT","text":"Increased proportion of memory T cells"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Molluscum contagiosum infections as manifested by a severe, invasive, or disseminated infection with Molluscum contagiosum over the body.","id":"HP:0032185","name":"Disseminated molluscum contagiosum","obsolete":false,"parents":["HP:0032163","HP:0033432"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated molluscum"}]} +{"alt_ids":[],"definition":"A benign or malignant neoplasm that affects the anal canal or anal margin.","id":"HP:0032186","name":"Anal neoplasm","obsolete":false,"parents":["HP:0004378","HP:0007378"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer.","id":"HP:0032187","name":"Anal intraepithelial neoplasia","obsolete":false,"parents":["HP:0032186"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle.","id":"HP:0032188","name":"Cellular hypersensitivity to mitomycin C","obsolete":false,"parents":["HP:0003254"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased cellular sensitivity to the DNA cross-linking agent, diepoxybutane (DEB). In the presence of increased sensitivity, DEB causes cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle.","id":"HP:0032189","name":"Cellular hypersensitivity to diepoxybutane","obsolete":false,"parents":["HP:0003254"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement.","id":"HP:0032190","name":"Abnormal meniscus morphology","obsolete":false,"parents":["HP:0034669"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tear in the cartilaginous pad (meniscus) of the knee.","id":"HP:0032191","name":"Torn meniscus","obsolete":false,"parents":["HP:0032190"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast.","id":"HP:0032192","name":"Hydatidiform mole","obsolete":false,"parents":["HP:0001194"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation.","id":"HP:0032193","name":"Decreased low-density lipoprotein particle size","obsolete":false,"parents":["HP:0003107"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart.","id":"HP:0032195","name":"Abnormal S wave","obsolete":false,"parents":["HP:0012249"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram.","id":"HP:0032196","name":"Prominent S wave in lead I","obsolete":false,"parents":["HP:0032195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal depth of the S wave in lead V5 of the electrocardiogram.","id":"HP:0032197","name":"Deep S wave in lead V5","obsolete":false,"parents":["HP:0032195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.","id":"HP:0032198","name":"Decreased prothrombin time","obsolete":false,"parents":["HP:0032199"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased INR"},{"scope":"EXACT","text":"Decreased PT"},{"scope":"EXACT","text":"Decreased international normalised ratio"},{"scope":"EXACT","text":"Decreased international normalized ratio"}]} +{"alt_ids":[],"definition":"Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.","id":"HP:0032199","name":"Abnormal prothrombin time","obsolete":false,"parents":["HP:0012200"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal PT"}]} +{"alt_ids":[],"definition":"The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern.","id":"HP:0032200","name":"Perivascular fibrosis","obsolete":false,"parents":["HP:0033353"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The term rotator cuff describes the tendons connecting the infraspinatus, supraspinatus, teres minor, and subscapularis muscles to the humeral head.Traumatic tears of the rotator cuff tend to occur at the tendon-bone junction of the supraspinatus and greater tuberosity of the humerus whereas degenerative tears tend to be seen posteriorly at the junction of the supraspinatus and infraspinatu A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus.","id":"HP:0032201","name":"Rotator cuff tear","obsolete":false,"parents":["HP:0003043","HP:0100261"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognized: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC.","id":"HP:0032202","name":"Vulvar intraepithelial neoplasia","obsolete":false,"parents":["HP:0030416"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236).","id":"HP:0032203","name":"Lymphoid nodular hyperplasia","obsolete":false,"parents":["HP:0002250"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lymphonodular hyperplasia of the colon"}]} +{"alt_ids":[],"definition":"Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed.","id":"HP:0032204","name":"Chronic active EBV infection","obsolete":false,"parents":["HP:0031035","HP:5210286"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic active Epstein-Barr virus infection"},{"scope":"EXACT","text":"Persistent Epstein-Barr virus infection"},{"scope":"EXACT","text":"Recurrent Epstein-Barr virus infection"}]} +{"alt_ids":[],"definition":"The concentration of galectin-3 in the blood circulation is above the upper limit of normal.","id":"HP:0032205","name":"Elevated circulating galectin-3 concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated galectin-3 concentration"},{"scope":"EXACT","text":"Elevated galectin-3 level"},{"scope":"EXACT","text":"Elevated galectin-3 level in blood"},{"scope":"EXACT","text":"Increased galectin-3 concentration"},{"scope":"EXACT","text":"Increased galectin-3 level"},{"scope":"EXACT","text":"Increased galectin-3 level in blood"}]} +{"alt_ids":[],"definition":null,"id":"HP:0032207","name":"obsolete Abnormal cerebrospinal fluid metabolite concentration","obsolete":true,"parents":[],"replaced_by":["HP:0025454"],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours.","id":"HP:0032208","name":"Increased urinary type 1 collagen N-terminal telopeptide level","obsolete":false,"parents":["HP:0033384"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased collagen crosslinked N-telopeptide [Moles/volume] in 24 hour urine"},{"scope":"EXACT","text":"Increased urine NTx level"}]} +{"alt_ids":[],"definition":"A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3.","id":"HP:0032209","name":"Abnormal circulating free T3 concentration","obsolete":false,"parents":["HP:0031508"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal circulating free T3 level"},{"scope":"EXACT","text":"Abnormal circulating free triiodotyronine concentration"}]} +{"alt_ids":[],"definition":"A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.","id":"HP:0032210","name":"Decreased circulating free T3","obsolete":false,"parents":["HP:0032209"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating free triiodothyronine"}]} +{"alt_ids":[],"definition":"An increased number of epithelial cells per high-power field in urinanalysis.","id":"HP:0032211","name":"Increased urinary epithelial cell count","obsolete":false,"parents":["HP:0012614"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased number of squamous epithelial cells per high-power field in urinanalysis.","id":"HP:0032212","name":"Increased urinary squamous epithelial cell count","obsolete":false,"parents":["HP:0032211"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased number of renal tubular epithelial cells per high-power field in urinanalysis.","id":"HP:0032213","name":"Increased urinary renal tubular epithelial cell count","obsolete":false,"parents":["HP:0032211"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased number of transitional epithelial cells per high-power field in urinanalysis.","id":"HP:0032214","name":"Increased urinary transitional epithelial cell count","obsolete":false,"parents":["HP:0032211"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities.","id":"HP:0032215","name":"Disseminated cutaneous warts","obsolete":false,"parents":["HP:0200043"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy.","id":"HP:0032216","name":"Lymphocytic infiltration of the colorectal mucosa","obsolete":false,"parents":["HP:0025090"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A skin nodule that is unusually hard (indurated).","id":"HP:0032217","name":"Indurated nodule","obsolete":false,"parents":["HP:0200036"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005407","HP:0005480","HP:0008165"],"definition":"Abnormal decrease of helper CD3+CD4+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.","id":"HP:0032218","name":"Decreased total CD4+ T cell proportion","obsolete":false,"parents":["HP:5210415"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased helper T cell proportion"},{"scope":"EXACT","text":"Decreased proportion circulating T-helper cells"},{"scope":"EXACT","text":"Decreased proportion of CD4+ T cells"},{"scope":"EXACT","text":"Decreased proportion of CD4+ cells"},{"scope":"EXACT","text":"Decreased proportion of CD4-positive T cells"},{"scope":"EXACT","text":"Decreased proportion of CD4-positive helper T cells"},{"scope":"EXACT","text":"Decreased proportion of CD4-positive, alpha-beta T cells"},{"scope":"EXACT","text":"Reduced helper T cell proportion"},{"scope":"EXACT","text":"Reduced proportion of CD4-positive cells"}]} +{"alt_ids":["HP:0500264"],"definition":"Abnormal increase of helper CD3+CD4+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.","id":"HP:0032219","name":"Increased total CD4+ T cell proportion","obsolete":false,"parents":["HP:5210416"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated helper T cell proportion"},{"scope":"EXACT","text":"Elevated proportion of CD4-positive T cells"},{"scope":"EXACT","text":"Increased helper T cell proportion"},{"scope":"EXACT","text":"Increased proportion of CD4+ T cells"},{"scope":"EXACT","text":"Increased proportion of CD4-positive T cells"},{"scope":"EXACT","text":"Increased proportion of CD4-positive, alpha-beta T cells"}]} +{"alt_ids":[],"definition":"Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma.","id":"HP:0032220","name":"Interface hepatitis","obsolete":false,"parents":["HP:0012115"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area.","id":"HP:0032221","name":"Periportal emperipolesis","obsolete":false,"parents":["HP:0030146"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification.","id":"HP:0032222","name":"Serrated intestinal polyps","obsolete":false,"parents":["HP:0200008"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Serrated polyposis"}]} +{"alt_ids":[],"definition":"Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus systems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems.","id":"HP:0032223","name":"Blood group","obsolete":false,"parents":["HP:0000001"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The ABO system consists of A and B antigens and antibodies against these antigens.","id":"HP:0032224","name":"ABO blood group","obsolete":false,"parents":["HP:0032223"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle.","id":"HP:0032225","name":"Perifollicular fibroma","obsolete":false,"parents":["HP:0008069"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the sebaceous glands.","id":"HP:0032226","name":"Abnormal sebaceous gland morphology","obsolete":false,"parents":["HP:0011138"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elsewhere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola.","id":"HP:0032227","name":"Sebaceous hyperplasia","obsolete":false,"parents":["HP:0032226"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion.","id":"HP:0032228","name":"Trichodiscoma","obsolete":false,"parents":["HP:0012842"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils.","id":"HP:0032229","name":"Perinuclear antineutrophil antibody positivity","obsolete":false,"parents":["HP:0003453"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"p-ANCA positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils.","id":"HP:0032230","name":"Cytoplasmic antineutrophil antibody positivity","obsolete":false,"parents":["HP:0003453"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-neutrophil cytoplasmic antibody positivity"},{"scope":"EXACT","text":"C-ANCA antibodies"},{"scope":"EXACT","text":"Cytoplasmic antineutrophil cytoplasmic antibodies"}]} +{"alt_ids":[],"definition":"A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells.","id":"HP:0032231","name":"Hypochromia","obsolete":false,"parents":["HP:0001903"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of CK-MB (= creatine kinase MB) in the blood circulation is above the upper limit of normal.","id":"HP:0032232","name":"Elevated circulating CK-MB concentration","obsolete":false,"parents":["HP:0040081"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased circulating CK MB isoform"}]} +{"alt_ids":[],"definition":"The concentration of creatine kinase BB isoform in the blood circulation is above the upper limit of normal.","id":"HP:0032233","name":"Elevated circulating creatine kinase BB isoform concentration","obsolete":false,"parents":["HP:0040081"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated creatine kinase B-type concentration"},{"scope":"EXACT","text":"Elevated creatine kinase B-type level"},{"scope":"EXACT","text":"Elevated creatine kinase B-type level in blood"},{"scope":"EXACT","text":"Increased circulating CK BB isoform"},{"scope":"EXACT","text":"Increased creatine kinase B-type concentration"},{"scope":"EXACT","text":"Increased creatine kinase B-type level"},{"scope":"EXACT","text":"Increased creatine kinase B-type level in blood"}]} +{"alt_ids":[],"definition":"The concentration of creatine kinase MM isoform in the blood circulation is above the upper limit of normal.","id":"HP:0032234","name":"Elevated circulating creatine kinase MM isoform concentration","obsolete":false,"parents":["HP:0040081"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated creatine kinase M-type concentration"},{"scope":"EXACT","text":"Elevated creatine kinase M-type level"},{"scope":"EXACT","text":"Elevated creatine kinase M-type level in blood"},{"scope":"EXACT","text":"Increased circulating CK MM isoform"},{"scope":"EXACT","text":"Increased creatine kinase M-type concentration"},{"scope":"EXACT","text":"Increased creatine kinase M-type level"},{"scope":"EXACT","text":"Increased creatine kinase M-type level in blood"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens.","id":"HP:0032235","name":"Anti-La/SS-B antibody positivity","obsolete":false,"parents":["HP:0033476"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased number of immature neutrophils in the peripheral blood circulation.","id":"HP:0032236","name":"Increased circulating immature neutrophil count","obsolete":false,"parents":["HP:0032309"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The number of myelocytes in the peripheral blood circulation is above the upper limit of normal. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and secondary granules, and a nucleus:cytoplasm ratio of 2:1.","id":"HP:0032237","name":"Increased circulating myelocyte count","obsolete":false,"parents":["HP:0032236"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The number of metamyelocytes in the peripheral blood circulation is above the upper limit of normal. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with secondary granules, and a nucleus:cytoplasm ratio of 1.5:1.","id":"HP:0032238","name":"Increased circulating metamyelocyte count","obsolete":false,"parents":["HP:0032236"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The number of band cells in the peripheral blood circulation is above the upper limit of normal. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small secondary granules, and a nucleus:cytoplasm ratio of 1:2.","id":"HP:0032239","name":"Increased circulating band cell count","obsolete":false,"parents":["HP:0032236"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased circulating band form neutrophils"},{"scope":"EXACT","text":"Left shift"}]} +{"alt_ids":[],"definition":"The concentration of E-selectin in the blood circulation is above the upper limit of normal.","id":"HP:0032240","name":"Elevated circulating E-selectin concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated E-selectin concentration"},{"scope":"EXACT","text":"Elevated E-selectin level"},{"scope":"EXACT","text":"Elevated E-selectin level in blood"},{"scope":"EXACT","text":"Increased E-selectin concentration"},{"scope":"EXACT","text":"Increased E-selectin level"},{"scope":"EXACT","text":"Increased E-selectin level in blood"}]} +{"alt_ids":[],"definition":"A tumor (abnormal growth of tissue) of the uterine cervix.","id":"HP:0032241","name":"Cervical neoplasm","obsolete":false,"parents":["HP:0007379","HP:0012888"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A precancerous condition characterized by dysplasia of the cervical epithelium. Cervical intraepithelial neoplasia (CIN) 1, 2 and 3 based on its relationship with the prognosis. CIN 1 is mild dysplasia, which is mostly observed because it disappears as part of its natural course. CIN 3 includes severe dysplasia and carcinoma in situ, and management involves treatment because it is highly likely to develop into invasive cancer.","id":"HP:0032242","name":"Cervical intraepithelial neoplasia","obsolete":false,"parents":["HP:0032241"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of a metabolite in a tissue.","id":"HP:0032243","name":"Abnormal tissue metabolite concentration","obsolete":false,"parents":["HP:0001939"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction in the concentration of thromboxane B2 in the blood circulation.","id":"HP:0032244","name":"Decreased serum thromboxane B2","obsolete":false,"parents":["HP:0030389"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products.","id":"HP:0032245","name":"Abnormal metabolism","obsolete":false,"parents":["HP:0001939"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Persistent or recurrent detection of cytomegalovirus (CMV) in the blood that occurs in the context of unusual susceptibility to infection.","id":"HP:0032247","name":"Persistent CMV viremia","obsolete":false,"parents":["HP:0032248","HP:0033432","HP:5210146"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic CMV viremia"},{"scope":"EXACT","text":"Persistent CMV viraemia"},{"scope":"EXACT","text":"Recurrent CMV viremia"}]} +{"alt_ids":[],"definition":"Persistence of virus in the blood circulation longer than would be normal in an immunocompetent host.","id":"HP:0032248","name":"Persistent viremia","obsolete":false,"parents":["HP:0020071","HP:0032169"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Infection by a Coccidioides species fungus. These are dimorphic, soil-dwelling, fungi known to cause a broad spectrum of disease, ranging from a mild febrile illness to severe pulmonary manifestations or disseminated disease. The genus Coccidioides is comprised of two genetically distinct species: Coccidioides immitis and C. posadasii.","id":"HP:0032249","name":"Coccidioidomycosis","obsolete":false,"parents":["HP:0032255"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Valley fever"}]} +{"alt_ids":[],"definition":"An infection by Acinetobacter baumannii, a Gram-negative bacillus that is aerobic, pleomorphic and non-motile. An opportunistic pathogen, A. baumannii has a high incidence among immunocompromised individuals, particularly those who have experienced a prolonged (over 90 d) hospital stay.","id":"HP:0032250","name":"Acinetobacter infection","obsolete":false,"parents":["HP:0032260"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0032251","name":"Abnormal immune system morphology","obsolete":false,"parents":["HP:0002715"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis.","id":"HP:0032252","name":"Granuloma","obsolete":false,"parents":["HP:0032251"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of granuloma characterized morphologically by the predominance of Langerhans cells with characteristic grooved, folded, indented nuclei in the appropriate milieu that includes variable numbers of eosinophils and histiocytes including multinucleated forms, often appearing similar to osteoclasts or touton like giant cells, neutrophils and small lymphocytes. The concentration of the eosinophilic infiltrate varies from scattered mature cells to sheet-like masses of cells. Occasionally, areas of bone necrosis may interrupt the cellular infiltrate. The foamy cells may also be amassed in clumps, which are of no clinical significance because these clumps represent phagocytosis of lipid debris.","id":"HP:0032253","name":"Eosinophilic granuloma","obsolete":false,"parents":["HP:0032252","HP:5210338"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of copper cation in the blood circulation is above the upper limit of normal. This term refers to the total copper concentration.","id":"HP:0032254","name":"Elevated circulating copper concentration","obsolete":false,"parents":["HP:0010836"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated copper cation concentration"},{"scope":"EXACT","text":"Elevated copper cation level"},{"scope":"EXACT","text":"Elevated copper cation level in blood"},{"scope":"EXACT","text":"Elevated serum copper"},{"scope":"EXACT","text":"Hypercupremia"},{"scope":"EXACT","text":"Increased circulating copper concentration"},{"scope":"EXACT","text":"Increased copper cation concentration"},{"scope":"EXACT","text":"Increased copper cation level"},{"scope":"EXACT","text":"Increased copper cation level in blood"}]} +{"alt_ids":[],"definition":"An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system.","id":"HP:0032255","name":"Opportunistic fungal infection","obsolete":false,"parents":["HP:0020100","HP:0031690"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased susceptibility to Histoplasma capsulatum infections as manifested by a recurrent or severe/invasive infection with Histoplasma capsulatum, or occurring in an unusual anatomical location.","id":"HP:0032256","name":"Unusual Histoplasma capsulatum infection","obsolete":false,"parents":["HP:0032255"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Histoplasmosis"},{"scope":"EXACT","text":"Unusual histoplasmosis"},{"scope":"EXACT","text":"Unusual progressive disseminated histoplasmosis"},{"scope":"EXACT","text":"Unusual susceptibility to Histoplasma capsulatum"}]} +{"alt_ids":[],"definition":"Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS.","id":"HP:0032257","name":"Severe Histoplasma capsulatum infection","obsolete":false,"parents":["HP:0032256"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated histoplasmosis"},{"scope":"EXACT","text":"Invasive histoplasmosis"},{"scope":"EXACT","text":"Progressive disseminated histoplasmosis"},{"scope":"EXACT","text":"Severe histoplasmosis"}]} +{"alt_ids":[],"definition":"Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum.","id":"HP:0032258","name":"Pulmonary histoplasmosis","obsolete":false,"parents":["HP:0032256"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect.","id":"HP:0032259","name":"Chronic tinea infection","obsolete":false,"parents":["HP:0031035"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system.","id":"HP:0032260","name":"Opportunistic bacterial infection","obsolete":false,"parents":["HP:0031690","HP:5210000"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease.","id":"HP:0032261","name":"Nontuberculous mycobacterial pulmonary infection","obsolete":false,"parents":["HP:0032260"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria.","id":"HP:0032262","name":"Pulmonary tuberculosis","obsolete":false,"parents":["HP:0032260"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pulmonary TB"}]} +{"alt_ids":[],"definition":"Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension.","id":"HP:0032263","name":"Increased blood pressure","obsolete":false,"parents":["HP:0030972"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased BP"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.","id":"HP:0032264","name":"Anti-NMDA receptor antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Presence of anti-N-methyl-D-aspartate Receptor antibody in blood"},{"scope":"EXACT","text":"Presence of anti-NMDAR antibody in blood"}]} +{"alt_ids":[],"definition":"The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism's own cells or tissues.","id":"HP:0032265","name":"CSF autoimmune antibody positivity","obsolete":false,"parents":["HP:0002960"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cerebrospinal fluid autoimmune antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.","id":"HP:0032266","name":"CSF anti-NMDA receptor antibody positivity","obsolete":false,"parents":["HP:0032265"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Presence of NMDAR antibody in CSF"},{"scope":"EXACT","text":"Presence of anti-N-methyl-D-aspartate Receptor antibody in CSF"},{"scope":"EXACT","text":"Presence of anti-NMDAR antibody in cerebrospinal fluid"}]} +{"alt_ids":[],"definition":"This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases.","id":"HP:0032267","name":"Empty delta sign","obsolete":false,"parents":["HP:0010303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor.","id":"HP:0032268","name":"Dural tail sign","obsolete":false,"parents":["HP:0010303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The lemon sign refers to the shape of the fetal skull at ultrasonography (US) when the frontal bones lose their normal convex contour and appear flattened or inwardly scalloped. This gives the skull a shape that is said to resemble a lemon.. The sign is seen on transverse sonograms of the fetal cranium obtained at the level of the ventricles.","id":"HP:0032269","name":"Lemon sign","obsolete":false,"parents":["HP:0025662"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common.","id":"HP:0032270","name":"Optic nerve tram-track sign","obsolete":false,"parents":["HP:0000587"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB.","id":"HP:0032271","name":"Extrapulmonary tuberculosis","obsolete":false,"parents":["HP:0032260"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extrapulmonary TB"}]} +{"alt_ids":[],"definition":null,"id":"HP:0032272","name":"obsolete Elevated urinary N-acetylaspartic acid level","obsolete":true,"parents":[],"replaced_by":["HP:0034649"],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of N-acetylaspartic acid in the blood circulation above the upper limit of normal.","id":"HP:0032273","name":"Increased circulating N-acetylaspartic acid concentration","obsolete":false,"parents":["HP:0033108"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased circulating N-acetyl aspartate level"},{"scope":"EXACT","text":"Increased circulating N-acetyl aspartic acid level"},{"scope":"EXACT","text":"Increased circulating N-acetyl-L-aspartic acid level"},{"scope":"EXACT","text":"Increased circulating N-acetylaspartate level"},{"scope":"EXACT","text":"Increased circulating NAA level"}]} +{"alt_ids":[],"definition":"An abnormally increased concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF).","id":"HP:0032274","name":"Increased CSF N-acetylaspartic acid concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased N-acetyl aspartate levels in CSF"},{"scope":"EXACT","text":"Increased N-acetyl aspartic acid levels in CSF"},{"scope":"EXACT","text":"Increased N-acetyl-L-aspartic acid levels in CSF"},{"scope":"EXACT","text":"Increased N-acetylaspartate levels in CSF"},{"scope":"EXACT","text":"Increased NAA levels in CSF"}]} +{"alt_ids":[],"definition":"Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes.","id":"HP:0032275","name":"Recurrent shingles","obsolete":false,"parents":["HP:0005353"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062.","id":"HP:0032276","name":"Prominent subcalcaneal fat pad","obsolete":false,"parents":["HP:0001760"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0032277","name":"Lozenge-shaped umbilicus","obsolete":false,"parents":["HP:0001551"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of 2-hydroxyglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0032278","name":"2-hydroxyglutarate aciduria","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C).","id":"HP:0032281","name":"Abnormal base excess","obsolete":false,"parents":["HP:0004360"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An inflammatory process in skin caused by an exogenous agent that directly or indirectly injure the skin. If the offending agent is identified and removed, the eruption will resolve. An unusual or patterned eruption may be a clue to the presence of a contact dermatitis. Patch testing may be helpful in the differential diagnosis.","id":"HP:0032282","name":"Contact dermatitis","obsolete":false,"parents":["HP:0000964"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Disseminated infection with non-tuberculous mycobacteria (NTM), involving multiple organ systems that occurs in the context of immune deficiency.","id":"HP:0032283","name":"Disseminated non-tuberculous mycobacterial infection","obsolete":false,"parents":["HP:0032260","HP:5210115"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated NTM infection"},{"scope":"EXACT","text":"Disseminated non-tuberculous mycobacteriosis"},{"scope":"EXACT","text":"Disseminated nontuberculous mycobacterial infection"},{"scope":"EXACT","text":"Severe non-tuberculosis mycobacteria infection"}]} +{"alt_ids":[],"definition":"Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm).","id":"HP:0032284","name":"Ultra-low vision with retained motion projection","obsolete":false,"parents":["HP:0032123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus.","id":"HP:0032285","name":"Ultra-low vision with retained light projection","obsolete":false,"parents":["HP:0032123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Ultra-low vision but with retained ability to perceive the difference between light and dark.","id":"HP:0032286","name":"Ultra-low vision with retained light perception","obsolete":false,"parents":["HP:0032123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Ultra-low vision with complete lack of light and form perception.","id":"HP:0032287","name":"Ultra-low vision with no light perception","obsolete":false,"parents":["HP:0032123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains.","id":"HP:0032288","name":"Polyclonal elevation of circulating IgG concentration","obsolete":false,"parents":["HP:0003237"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Polyclonal elevation of circulating IgG level"}]} +{"alt_ids":[],"definition":"An increase in circulating immunoglobulins characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.","id":"HP:0032289","name":"Oligoclonal elevation of circulating IgG concentration","obsolete":false,"parents":["HP:0003237"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Oligoclonal elevation of circulating IgG level"}]} +{"alt_ids":[],"definition":"An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.","id":"HP:0032290","name":"Monoclonal elevation of circulating IgG concentration","obsolete":false,"parents":["HP:0003237"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Monoclonal elevation of circulating IgG level"}]} +{"alt_ids":[],"definition":"A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain.","id":"HP:0032291","name":"Monoclonal elevation of circulating intact IgG concentration","obsolete":false,"parents":["HP:0032290"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Monoclonal elevation of circulating intact IgG level"}]} +{"alt_ids":[],"definition":"A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a light chain but not a heavy chain.","id":"HP:0032292","name":"Monoclonal elevation of circulating IgG light chain concentration","obsolete":false,"parents":["HP:0032290"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Monoclonal elevation of circulating IgG light chain level"}]} +{"alt_ids":[],"definition":"A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain.","id":"HP:0032293","name":"Monoclonal elevation of circulating IgG heavy chain concentration","obsolete":false,"parents":["HP:0032290"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Monoclonal elevation of circulating IgG heavy chain level"}]} +{"alt_ids":[],"definition":"A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain.","id":"HP:0032294","name":"Monoclonal elevation of IgG kappa chain","obsolete":false,"parents":["HP:0032292"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a lambda light chain but not a heavy chain.","id":"HP:0032295","name":"Monoclonal elevation of IgG lambda chain","obsolete":false,"parents":["HP:0032292"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses.","id":"HP:0032296","name":"Increased circulating IgG subclass concentration","obsolete":false,"parents":["HP:0003237"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased concentration of the IgG3 subtype in the blood circulation.","id":"HP:0032297","name":"Increased circulating IgG3 concentration","obsolete":false,"parents":["HP:0032296"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased concentration of the IgG1 subtype in the blood circulation.","id":"HP:0032298","name":"Increased circulating IgG1 concentration","obsolete":false,"parents":["HP:0032296"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased concentration of the IgG2 subtype in the blood circulation.","id":"HP:0032299","name":"Increased circulating IgG2 concentration","obsolete":false,"parents":["HP:0032296"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased concentration of the IgG4 subtype in the blood circulation.","id":"HP:0032300","name":"Increased circulating IgG4 concentration","obsolete":false,"parents":["HP:0032296"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Warts affecting the skin in the genital area (penile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pedunculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress.","id":"HP:0032301","name":"Genital warts","obsolete":false,"parents":["HP:0200043"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of free monoclonal kappa immunoglobulin light chains in the urine.","id":"HP:0032302","name":"Kappa Bence Jones proteinuria","obsolete":false,"parents":["HP:0030156"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of free monoclonal lambda immunoglobulin light chains in the urine.","id":"HP:0032303","name":"Lambda Bence Jones proteinuria","obsolete":false,"parents":["HP:0030156"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of mannose-binding protein in the blood circulation.","id":"HP:0032304","name":"Abnormal circulating mannose-binding protein concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of mannose-binding protein in the blood circulation is below the lower limit of normal.","id":"HP:0032305","name":"Decreased circulating mannose-binding protein concentration","obsolete":false,"parents":["HP:0032304"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased mannose-binding protein level"}]} +{"alt_ids":[],"definition":"The concentration of mannose-binding protein in the blood circulation is above the upper limit of normal.","id":"HP:0032306","name":"Elevated circulating mannose-binding protein concentration","obsolete":false,"parents":["HP:0032304"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased mannose-binding protein level"}]} +{"alt_ids":[],"definition":"An elevated concentration of procalcitonin in the blood circulation.","id":"HP:0032308","name":"Increased circulating procalcitonin concentration","obsolete":false,"parents":["HP:0100530"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased circulating procalcitonin level"}]} +{"alt_ids":[],"definition":"Abnormal increase or decrease of absolute number of granulocytes in the blood, per microliter, compared to a reference range for a given sex and age-group.","id":"HP:0032309","name":"Abnormal granulocyte count","obsolete":false,"parents":["HP:0001911","HP:0011893"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased count of granulocytes in the peripheral blood circulation.","id":"HP:0032310","name":"Increased total granulocyte count","obsolete":false,"parents":["HP:0032309"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Granulocytosis"}]} +{"alt_ids":[],"definition":"The concentration of globulins in the blood circulation is above the upper limit of normal.","id":"HP:0032311","name":"Elevated circulating globulin concentration","obsolete":false,"parents":["HP:0032179"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperglobulinemia"}]} +{"alt_ids":[],"definition":"The concentration of globulins in the blood circulation is below the lower limit of normal.","id":"HP:0032312","name":"Decreased circulating globulin concentration","obsolete":false,"parents":["HP:0032179"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excessive, increased hair growth located in the region of the forehead and temple.","id":"HP:0032313","name":"Frontotemporal hypertrichosis","obsolete":false,"parents":["HP:0002219"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple.","id":"HP:0032314","name":"Abnormal areolar morphology","obsolete":false,"parents":["HP:0031093"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape.","id":"HP:0032315","name":"Areolar fullness","obsolete":false,"parents":["HP:0032314"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Information about close relatives of an individual who is the proband of a study or who is being investigated with the goal of identifying a medical diagnosis. Usually, the family history includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins.","id":"HP:0032316","name":"Family history","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A close blood relative had cancer.","id":"HP:0032317","name":"Family history of cancer","obsolete":false,"parents":["HP:0032316"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A close blood relative had heart disease.","id":"HP:0032318","name":"Family history of heart disease","obsolete":false,"parents":["HP:0032316"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Health status of a family member with respect to the disease being investigated in a proband.","id":"HP:0032319","name":"Health status","obsolete":false,"parents":["HP:0032316"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This term applies to a family member who is diagnosed with the same condition as the individual who is the primary focus of investigation (the proband).","id":"HP:0032320","name":"Affected","obsolete":false,"parents":["HP:0032319"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded.","id":"HP:0032321","name":"Unaffected","obsolete":false,"parents":["HP:0032319"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"No history of any serious disease, including the disease being investigated in the proband.","id":"HP:0032322","name":"Healthy","obsolete":false,"parents":["HP:0032319"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Episodic fever that recurs at regular intervals.","id":"HP:0032323","name":"Periodic fever","obsolete":false,"parents":["HP:0001954"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Episodic fever that recurs at irregular intervals.","id":"HP:0032324","name":"Non-periodic recurrent fever","obsolete":false,"parents":["HP:0001954"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain.","id":"HP:0032325","name":"Lacunar stroke","obsolete":false,"parents":["HP:0002140"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection.","id":"HP:0032326","name":"Methicillin-resistant Staphylococcus aureus infection","obsolete":false,"parents":["HP:0032260"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"MRSA infection"}]} +{"alt_ids":[],"definition":"Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system.","id":"HP:0032327","name":"Interhemispheric cyst","obsolete":false,"parents":["HP:0012703"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ.","id":"HP:0032328","name":"Temporomandibular joint adhesion","obsolete":false,"parents":["HP:0010754"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally elevated concentration of 11-deoxycortisol in the urine.","id":"HP:0032329","name":"Increased urinary 11-deoxycortisol level","obsolete":false,"parents":["HP:0012029"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine.","id":"HP:0032330","name":"Increased urinary 11-deoxycorticosterone level","obsolete":false,"parents":["HP:0012029"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine.","id":"HP:0032331","name":"Increased urinary 11-deoxytetrahydrocorticosterone level","obsolete":false,"parents":["HP:0012029"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase.","id":"HP:0032332","name":"Oligoclonal elevation of circulating IgM concentration","obsolete":false,"parents":["HP:0003496"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis.","id":"HP:0032333","name":"Polyclonal elevation of circulating IgA","obsolete":false,"parents":["HP:0003261"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.","id":"HP:0032334","name":"Oligoclonal elevation of circulating IgA","obsolete":false,"parents":["HP:0003261"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.","id":"HP:0032335","name":"Monoclonal elevation of circulating IgA","obsolete":false,"parents":["HP:0003261"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0032336","name":"Increased circulating specific IgE antibody concentration","obsolete":false,"parents":["HP:0010701"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased circulating specific IgE antibody"}]} +{"alt_ids":[],"definition":"An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.","id":"HP:0032337","name":"Monoclonal elevated circulating IgE concentration","obsolete":false,"parents":["HP:0003212"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Monoclonal elevation of circulating IgE"}]} +{"alt_ids":[],"definition":"An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.","id":"HP:0032338","name":"Oligoclonal elevated circulating IgE concentration","obsolete":false,"parents":["HP:0003212"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Oligoclonal elevation of circulating IgE"}]} +{"alt_ids":[],"definition":"A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis.","id":"HP:0032339","name":"Polyclonal elevated circulating IgE concentration","obsolete":false,"parents":["HP:0003212"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0032340","name":"obsolete Abnormal spirometry test","obsolete":true,"parents":[],"replaced_by":["HP:0030878"],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal reduction in the amount of air a person can expel following maximal inspiration.","id":"HP:0032341","name":"Reduced forced vital capacity","obsolete":false,"parents":["HP:0030878"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased forced vital capacity"},{"scope":"EXACT","text":"Reduced FVC"}]} +{"alt_ids":[],"definition":"An abnormal reduction in the amount of air a person can forcefully expel in one second.","id":"HP:0032342","name":"Reduced forced expiratory volume in one second","obsolete":false,"parents":["HP:0030878"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced FEV1"}]} +{"alt_ids":[],"definition":"Upturned concavity of toenails.","id":"HP:0032344","name":"Upslanting toenail","obsolete":false,"parents":["HP:0008388"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ski-jump toenail"},{"scope":"EXACT","text":"Upturned toenail"}]} +{"alt_ids":["HP:0034603"],"definition":"The concentration of carbohydrate antigen 19-9 (CA19-9) in the blood circulation is above the upper limit of normal. CA 19-9, also known as sialyl Lewis A, is a tetrasaccharide overexpressed on a wide range of cancerous cells. CA 19-9 is a tumor-associated carbohydrate antigen (TACAs) that is both a local (anchored on cell surface or tumor site) and shed (in systemic circulation) antigen. CA 19-9 is expressed at low levels in normal tissues but overexpressed in cancer cells.","id":"HP:0032345","name":"Elevated circulating CA19-9 concentration","obsolete":false,"parents":["HP:0011013"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated cancer Ag 19-9 level"},{"scope":"EXACT","text":"Elevated circulating cancer antigen 19-9 concentration"},{"scope":"EXACT","text":"Elevated circulating carbohydrate antigen 19-9 concentration"},{"scope":"EXACT","text":"Elevated circulating sialylated Lewis a antigen concentration"}]} +{"alt_ids":[],"definition":"Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs.","id":"HP:0032346","name":"Cutaneous lichen amyloidosis","obsolete":false,"parents":["HP:0012309"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance.","id":"HP:0032347","name":"Cutaneous macular amyloidosis","obsolete":false,"parents":["HP:0012309"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Macular amyloidosis"}]} +{"alt_ids":[],"definition":"A type of cutaneous amyloidosis that is characterized clinically by waxy, purpuric plaques and nodules and histologically by amyloid deposits in the dermis and subcutaneous tissue.","id":"HP:0032348","name":"Cutaneous nodular amyloidosis","obsolete":false,"parents":["HP:0012309"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A increased concentration of serine in the urine.","id":"HP:0032349","name":"Serinuria","obsolete":false,"parents":["HP:0033099"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A increased concentration of sulfocysteine in the urine.","id":"HP:0032350","name":"Sulfocysteinuria","obsolete":false,"parents":["HP:0033100"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased level of phenylalanine in urine.","id":"HP:0032351","name":"Phenylalaninuria","obsolete":false,"parents":["HP:0033090"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased level of phenylalanine in urine"}]} +{"alt_ids":[],"definition":"Level of methionine in urine above the upper limit of normal.","id":"HP:0032352","name":"Methioninuria","obsolete":false,"parents":["HP:0033095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Methionine high in urine"}]} +{"alt_ids":[],"definition":"Increased level of leucine in urine.","id":"HP:0032353","name":"Leucinuria","obsolete":false,"parents":["HP:0033089"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways.","id":"HP:0032355","name":"Decreased peak expiratory flow","obsolete":false,"parents":["HP:0030878"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication.","id":"HP:0032356","name":"Decreased pre-bronchodilator forced vital capacity","obsolete":false,"parents":["HP:0032341"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased pre bronchodilator forced vital capacity"},{"scope":"EXACT","text":"Decreased prebronchodilator forced vital capacity"}]} +{"alt_ids":[],"definition":"An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication.","id":"HP:0032357","name":"Decreased post-bronchodilator forced vital capacity","obsolete":false,"parents":["HP:0032341"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased post bronchodilator forced vital capacity"},{"scope":"EXACT","text":"Decreased postbronchodilator forced vital capacity"}]} +{"alt_ids":[],"definition":"An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication.","id":"HP:0032358","name":"Decreased post-bronchodilator forced expiratory volume in one second","obsolete":false,"parents":["HP:0032342"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased post bronchodilator forced expiratory volume in one second"},{"scope":"EXACT","text":"Decreased postbronchodilator forced expiratory volume in one second"}]} +{"alt_ids":[],"definition":"A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled.","id":"HP:0032359","name":"Decreased forced expiratory flow 25-75%","obsolete":false,"parents":["HP:0030878"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased FEF25-75%"}]} +{"alt_ids":[],"definition":"A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed before the administration of a bronchodilating medication.","id":"HP:0032360","name":"Decreased pre-bronchodilator forced expiratory flow 25-75%","obsolete":false,"parents":["HP:0032359"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased pre bronchodilator forced expiratory flow 25-75%"},{"scope":"EXACT","text":"Decreased pre-bronchodilator FEF25-75%"},{"scope":"EXACT","text":"Decreased prebronchodilator forced expiratory flow 25-75%"}]} +{"alt_ids":[],"definition":"A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication.","id":"HP:0032361","name":"Decreased post-bronchodilator forced expiratory flow 25-75%","obsolete":false,"parents":["HP:0032359"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased post bronchodilator forced expiratory flow 25-75%"},{"scope":"EXACT","text":"Decreased post-bronchodilator FEF25-75%"},{"scope":"EXACT","text":"Decreased postbronchodilator forced expiratory flow 25-75%"}]} +{"alt_ids":[],"definition":"An abnormally elevated concentration of corticosterone in the blood.","id":"HP:0032362","name":"Increased circulating corticosterone level","obsolete":false,"parents":["HP:0012112"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally reduced concentration of corticosterone in the blood.","id":"HP:0032363","name":"Decreased circulating corticosterone level","obsolete":false,"parents":["HP:0012112"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0032364","name":"obsolete Abnormal CSF amino acid level","obsolete":true,"parents":[],"replaced_by":["HP:0500184"],"synonyms":[]} +{"alt_ids":[],"definition":"Applied to a sign or symptom that is worsened by ingestion of aspirin.","id":"HP:0032365","name":"Exacerbated by aspirin exposure","obsolete":false,"parents":["HP:4000176"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction.","id":"HP:0032366","name":"Positive direct antiglobulin test","obsolete":false,"parents":["HP:6000388"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful.","id":"HP:0032367","name":"Abnormal circulating growth hormone concentration","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal growth hormone level"},{"scope":"EXACT","text":"Abnormal somatotropin level"}]} +{"alt_ids":[],"definition":"An abnormally low blood pH (usually defined as less than 7.35).","id":"HP:0032368","name":"Acidemia","obsolete":false,"parents":["HP:0004360"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally high blood pH (usually defined as 7.41 or above).","id":"HP:0032369","name":"Alkalemia","obsolete":false,"parents":["HP:0004360"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"ABO phenotype A, corresponding to the genotype AO or AA.","id":"HP:0032370","name":"Blood group A","obsolete":false,"parents":["HP:0032224"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of isoleucine in the urine.","id":"HP:0032371","name":"Isoleucinuria","obsolete":false,"parents":["HP:0033089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperisoleucinuria"},{"scope":"EXACT","text":"Isoleucine high in urine"}]} +{"alt_ids":[],"definition":"An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications.","id":"HP:0032372","name":"Increased peripheral blast count","obsolete":false,"parents":["HP:0011893"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated blast count"},{"scope":"EXACT","text":"Elevated circulating blasts"},{"scope":"EXACT","text":"Increased peripheral myeloblast count"}]} +{"alt_ids":[],"definition":"The Duffy blood group system is based on the presence of a glycoprotein termed Fy that is on the surface of erythrocytes and some other cells. There are two Duffy antigens named Fya and Fyb, and thus there are four Duffy phenotypes: a+b+, a+b-, a-b+,a-b-.","id":"HP:0032373","name":"Duffy blood group","obsolete":false,"parents":["HP:0032223"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of the Duffy Fya antigen.","id":"HP:0032374","name":"Duffy Fya positivity","obsolete":false,"parents":["HP:0032373"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of the Duffy Fyb antigen.","id":"HP:0032375","name":"Duffy Fyb positivity","obsolete":false,"parents":["HP:0032373"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS).","id":"HP:0032376","name":"Anti-beta 2 glycoprotein I antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-B2GPI positivity"}]} +{"alt_ids":[],"definition":"An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism.","id":"HP:0032377","name":"Increased urinary orosomucoid","obsolete":false,"parents":["HP:0020129"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased urinary alpha-1-acid glycoprotein"}]} +{"alt_ids":[],"definition":"Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching, dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement.","id":"HP:0032378","name":"Immediate-type hypersensitivity drug reaction","obsolete":false,"parents":["HP:0100326"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The cardinal symptom is severely pruritic skin lesions. Macular, papular, papulovesicular, urticarial, multiforme- and plaque-like variants are differentiated morphologically, hence the name polymorphous. Usually one morphology dominates in a single individual (monomorphous). The skin lesions develop a few hours to several days after sun exposure. Initially, patchy erythema develops, accompanied by pruritus. Distinct lesions then develop. The upper chest, upper arms, backs of the hands, thighs, and the sides of the face are the primary localizations. The skin lesions resolve spontaneously within several days of ceasing sun exposure and do not leave behind any traces.","id":"HP:0032379","name":"Polymorphous light eruption","obsolete":false,"parents":["HP:0000992"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sun allergy"}]} +{"alt_ids":[],"definition":"In response to the spring sun distinct inflamed reddened skin develops on the ears, nose, cheeks, fingers, backs of the hands, and the lower arms, on which blisters with serous or hemorrhagic content develop. These dry out with the formation of a blackish scab. After shedding of the scab, depressed, varioliform, often hypopigmented scars remain. In addition, hyper- and hypopigmentation are present together, resulting in a polymorphous skin presentation.","id":"HP:0032381","name":"Hydroa vacciniforme","obsolete":false,"parents":["HP:0000992"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acute vesiculation and crusting and scarring following sun exposure"}]} +{"alt_ids":[],"definition":"Inheritance of both homologues of a chromosome pair from the same parent.","id":"HP:0032382","name":"Uniparental disomy","obsolete":false,"parents":["HP:0034335"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"UPD"}]} +{"alt_ids":[],"definition":"A type of uniparental disomy in which the two different chromosomes (or chromosome segments) of the same parent are transmitted.","id":"HP:0032383","name":"Uniparental heterodisomy","obsolete":false,"parents":["HP:0032382"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of uniparental disomy in which the two identical chromosomes (or chromosome segments) of the same parent are transmitted.","id":"HP:0032384","name":"Uniparental isodisomy","obsolete":false,"parents":["HP:0032382"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of transferrin in the blood circulation.","id":"HP:0032385","name":"Abnormal circulating transferrin concentration","obsolete":false,"parents":["HP:0025465"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal circulating transferrin level"},{"scope":"EXACT","text":"Abnormal serotransferrin level"}]} +{"alt_ids":[],"definition":"The concentration of transferrin in the blood circulation is above the upper limit of normal.","id":"HP:0032386","name":"Elevated circulating transferrin concentration","obsolete":false,"parents":["HP:0032385"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated serotransferrin concentration"},{"scope":"EXACT","text":"Elevated serotransferrin level"},{"scope":"EXACT","text":"Elevated serotransferrin level in blood"},{"scope":"EXACT","text":"Elevated transferrin level"},{"scope":"EXACT","text":"Increased serotransferrin concentration"},{"scope":"EXACT","text":"Increased serotransferrin level"},{"scope":"EXACT","text":"Increased serotransferrin level in blood"}]} +{"alt_ids":[],"definition":"The concentration of transferrin in the blood circulation is below the lower limit of normal.","id":"HP:0032387","name":"Decreased circulating transferrin concentration","obsolete":false,"parents":["HP:0032385"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased serotransferrin concentration"},{"scope":"EXACT","text":"Decreased serotransferrin level"},{"scope":"EXACT","text":"Decreased serotransferrin level in blood"},{"scope":"EXACT","text":"Reduced serotransferrin concentration"},{"scope":"EXACT","text":"Reduced serotransferrin level"},{"scope":"EXACT","text":"Reduced serotransferrin level in blood"},{"scope":"EXACT","text":"Reduced transferrin level"}]} +{"alt_ids":[],"definition":"Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple.","id":"HP:0032388","name":"Periventricular nodular heterotopia","obsolete":false,"parents":["HP:0007165"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral.","id":"HP:0032389","name":"Periventricular laminar heterotopia","obsolete":false,"parents":["HP:0007165"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Heterotopia that forms a continuous wavy line along the ventricular wall.","id":"HP:0032390","name":"Periventricular ribbonlike heterotopia","obsolete":false,"parents":["HP:0007165"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of heterotopia were the mislocalized gray matter is located deep within the white matter.","id":"HP:0032391","name":"Subcortical heterotopia","obsolete":false,"parents":["HP:0002282"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei.","id":"HP:0032392","name":"Nodular subcortical heterotopia in peritrigonal regions","obsolete":false,"parents":["HP:0032391"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex.","id":"HP:0032393","name":"Diffuse ribbon-like subcortical heterotopia","obsolete":false,"parents":["HP:0032391"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia.","id":"HP:0032394","name":"Mesial parasagittal subcortical heterotopia","obsolete":false,"parents":["HP:0032391"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Large subcortical heterotopia of variable morphology with streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia.","id":"HP:0032395","name":"Curvilinear subcortical heterotopia","obsolete":false,"parents":["HP:0032391"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Giant heterotopia"}]} +{"alt_ids":[],"definition":"Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma.","id":"HP:0032396","name":"Transmantle columnar heterotopia","obsolete":false,"parents":["HP:0032391"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of citrulline in the urine, when normalized for urine concentration, is above the upper limit of normal.","id":"HP:0032397","name":"Citrullinuria","obsolete":false,"parents":["HP:0033098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Citrulline high in urine"}]} +{"alt_ids":[],"definition":"An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation.","id":"HP:0032398","name":"Dysgyria","obsolete":false,"parents":["HP:0002536"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex.","id":"HP:0032399","name":"Dysgyria with normal cortical thickness","obsolete":false,"parents":["HP:0032398"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria.","id":"HP:0032400","name":"Dysgyria with thickened cortex","obsolete":false,"parents":["HP:0006891","HP:0032398"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A increased concentration of aspartic acid in the urine.","id":"HP:0032401","name":"Aspartic aciduria","obsolete":false,"parents":["HP:0033096"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of asparagine in the urine.","id":"HP:0032403","name":"Asparaginuria","obsolete":false,"parents":["HP:0033096"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased level of asparagine in urine"},{"scope":"EXACT","text":"Increased urine asparagine level"}]} +{"alt_ids":[],"definition":"An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer.","id":"HP:0032404","name":"Testicular mass","obsolete":false,"parents":["HP:0000035"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased level of phosphoserine in the urine.","id":"HP:0032405","name":"Increased urinary phosphoserine level","obsolete":false,"parents":["HP:0033097"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased level of phosphoserine in urine"}]} +{"alt_ids":[],"definition":"A type of perisylvian polymicrogyria that largely affects one side of the brain.","id":"HP:0032406","name":"Unilateral perisylvian polymicrogyria","obsolete":false,"parents":["HP:0006927","HP:0012650"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of perisylvian polymicrogyria that affects both sides of the brain.","id":"HP:0032407","name":"Bilateral perisylvian polymicrogyria","obsolete":false,"parents":["HP:0012650","HP:0025646"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician.","id":"HP:0032408","name":"Breast mass","obsolete":false,"parents":["HP:0031093"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Breast lump"}]} +{"alt_ids":[],"definition":"A form of subcortical heterotopia with mislocalized gray matter within the white matter.It is defined as longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter. It is part of the lissencephaly spectrum.","id":"HP:0032409","name":"Subcortical band heterotopia","obsolete":false,"parents":["HP:0001339","HP:0032391"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter.","id":"HP:0032410","name":"Bilateral generalized polymicrogyria","obsolete":false,"parents":["HP:0025646"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bilateral generalised polymicrogyria"},{"scope":"EXACT","text":"Diffuse polymicrogyria"}]} +{"alt_ids":[],"definition":"Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex.","id":"HP:0032411","name":"Posterior predominant subcortical band heterotopia","obsolete":false,"parents":["HP:0032409"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Occipital subcortical band heterotopia"},{"scope":"EXACT","text":"Subcortical band heterotopia posterior predominant"}]} +{"alt_ids":[],"definition":"Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes.","id":"HP:0032412","name":"Anterior predominant subcortical band heterotopia","obsolete":false,"parents":["HP:0032409"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Frontal subcortical band heterotopia"},{"scope":"EXACT","text":"Subcortical band heterotopia anterior predominant"}]} +{"alt_ids":[],"definition":"Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain.","id":"HP:0032413","name":"Diffuse subcortical band heterotopia","obsolete":false,"parents":["HP:0032409"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Subcortical band heterotopia diffuse"}]} +{"alt_ids":[],"definition":"The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens.","id":"HP:0032414","name":"Hydroxylysinuria","obsolete":false,"parents":["HP:0033098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hydroxylysine high in urine"}]} +{"alt_ids":[],"definition":"Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex.","id":"HP:0032415","name":"Parasagittal parieto-occipital polymicrogyria","obsolete":false,"parents":["HP:0002126"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008014","HP:0030494"],"definition":"A localized dilation or outpouching of microvasculature formed due to disruption of the vessel wall of a retinal capillary blood vessel. The lesions present as small red dots with distinct margins and are not larger than a blood vessel width at the disk margin.","id":"HP:0032416","name":"Retinal microaneurysm","obsolete":false,"parents":["HP:0008046"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Circumferential fibrosis in the interstitium surrounding Bowman's capsule","id":"HP:0032417","name":"Periglomerular fibrosis","obsolete":false,"parents":["HP:0031264"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Periglomerular fibrotic thickening"}]} +{"alt_ids":[],"definition":"An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm).","id":"HP:0032418","name":"Abnormal HDL subfraction concentration","obsolete":false,"parents":["HP:0031888"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm.","id":"HP:0032419","name":"Abnormal HDL2a concentration","obsolete":false,"parents":["HP:0032418"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm.","id":"HP:0032420","name":"Increased HDL2a concentration","obsolete":false,"parents":["HP:0032419"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm.","id":"HP:0032421","name":"Decreased HDL2a concentration","obsolete":false,"parents":["HP:0032419"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.","id":"HP:0032422","name":"Abnormal HDL2b concentration","obsolete":false,"parents":["HP:0032418"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.","id":"HP:0032423","name":"Decreased HDL2b concentration","obsolete":false,"parents":["HP:0032422"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.","id":"HP:0032424","name":"Increased HDL2b concentration","obsolete":false,"parents":["HP:0032422"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.","id":"HP:0032425","name":"Abnormal HDL3a concentration","obsolete":false,"parents":["HP:0032418"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.","id":"HP:0032426","name":"Abnormal HDL3b concentration","obsolete":false,"parents":["HP:0032418"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.","id":"HP:0032427","name":"Abnormal HDL3c concentration","obsolete":false,"parents":["HP:0032418"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.","id":"HP:0032428","name":"Increased HDL3a concentration","obsolete":false,"parents":["HP:0032425"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.","id":"HP:0032429","name":"Decreased HDL3a concentration","obsolete":false,"parents":["HP:0032425"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.","id":"HP:0032430","name":"Increased HDL3b concentration","obsolete":false,"parents":["HP:0032426"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.","id":"HP:0032431","name":"Decreased HDL3b concentration","obsolete":false,"parents":["HP:0032426"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.","id":"HP:0032432","name":"Increased HDL3c concentration","obsolete":false,"parents":["HP:0032427"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.","id":"HP:0032433","name":"Decreased HDL3c concentration","obsolete":false,"parents":["HP:0032427"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Separation of the umbilical cord occurs at an abnormally late timepoint.","id":"HP:0032434","name":"Delayed umbilical cord separation","obsolete":false,"parents":["HP:0010881"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delayed separation of umbilical cord"}]} +{"alt_ids":[],"definition":"An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period.","id":"HP:0032435","name":"Neonatal omphalitis","obsolete":false,"parents":["HP:0010881"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Omphalitis"},{"scope":"EXACT","text":"Umbilical cord stump infection"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of C-reactive protein in the blood circulation.","id":"HP:0032436","name":"Abnormal circulating C-reactive protein concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal C-reactive protein level"}]} +{"alt_ids":[],"definition":"The concentration of C-reactive protein in the blood circulation is below the lower limit of normal.","id":"HP:0032437","name":"Decreased circulating C-reactive protein concentration","obsolete":false,"parents":["HP:0032436"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased C-reactive protein concentration"},{"scope":"EXACT","text":"Decreased C-reactive protein level"},{"scope":"EXACT","text":"Decreased C-reactive protein level in blood"},{"scope":"EXACT","text":"Reduced C-reactive protein concentration"},{"scope":"EXACT","text":"Reduced C-reactive protein level"},{"scope":"EXACT","text":"Reduced C-reactive protein level in blood"}]} +{"alt_ids":[],"definition":"Abnormally increased variability in the size of platelets.","id":"HP:0032438","name":"Platelet anisocytosis","obsolete":false,"parents":["HP:0011875"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased sensitivity to airborn particles. This can be diagnosed on the basis of the medical history, taking into account seasonality or a relationship to the concentration of airborn particles in the environment of the affected individual. Aerosol challenge is a gold standard of establishment of the symptom. There exist particle hypersensitivity (diesel exhaust, metals, inorganic material) vs. allergen (including pollen dander, etc) hypersensitivity. The responses are usually different and testing for allergen hypersensitivity is done in concert with serum IgE and or skin testing to the suspected allergen.","id":"HP:0032439","name":"Airborn particle hypersensitivity","obsolete":false,"parents":["HP:0100326"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"ABO phenotype B, corresponding to the genotype BO or BB.","id":"HP:0032440","name":"Blood group B","obsolete":false,"parents":["HP:0032224"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"ABO phenotype AB, corresponding to the genotype AB.","id":"HP:0032441","name":"Blood group AB","obsolete":false,"parents":["HP:0032224"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"ABO phenotype O, corresponding to the genotype OO.","id":"HP:0032442","name":"Blood group O","obsolete":false,"parents":["HP:0032224"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc.","id":"HP:0032443","name":"Past medical history","obsolete":false,"parents":["HP:0000001"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The affected individual has received an organ transplant previous to the current medical encounter.","id":"HP:0032444","name":"Status post organ transplantation","obsolete":false,"parents":["HP:0430103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"s/p organ transplantation"}]} +{"alt_ids":[],"definition":"A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid.","id":"HP:0032445","name":"Pulmonary cyst","obsolete":false,"parents":["HP:0002088"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lung cyst"}]} +{"alt_ids":[],"definition":"Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema.","id":"HP:0032446","name":"Pulmonary bulla","obsolete":false,"parents":["HP:0002097"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pulmonary bullae"}]} +{"alt_ids":[],"definition":"A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura.","id":"HP:0032447","name":"Pulmonary bleb","obsolete":false,"parents":["HP:0002097"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A condition in which production of hydrochloric acid in the stomach is absent.","id":"HP:0032448","name":"Achlorhydria","obsolete":false,"parents":["HP:0012719"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane.","id":"HP:0032449","name":"Abnormal dermoepidermal hemidesmosome morphology","obsolete":false,"parents":["HP:0031538"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of arsenic in the blood circulation.","id":"HP:0032450","name":"Positive blood arsenic test","obsolete":false,"parents":["HP:0410172"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented.","id":"HP:0032451","name":"Oral melanotic macule","obsolete":false,"parents":["HP:0100669"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Melanotic macule of oral mucosa"}]} +{"alt_ids":[],"definition":"Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions.","id":"HP:0032452","name":"Oral melanoacanthoma","obsolete":false,"parents":["HP:0100669"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal.","id":"HP:0032453","name":"Abnormal lip pigmentation","obsolete":false,"parents":["HP:0000159"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture.","id":"HP:0032454","name":"Labial melanotic macule","obsolete":false,"parents":["HP:0032453"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Labial melanotic freckle"}]} +{"alt_ids":[],"definition":"Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry.","id":"HP:0032455","name":"Reduced granulocyte CD18 level","obsolete":false,"parents":["HP:0031553"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and gray matter.","id":"HP:0032456","name":"Unlayered lissencephaly","obsolete":false,"parents":["HP:0001339"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity.","id":"HP:0032457","name":"2-3-layered lissencephaly","obsolete":false,"parents":["HP:0001339"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located.","id":"HP:0032458","name":"Narrowing of medullary canal","obsolete":false,"parents":["HP:0011842"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Medullary cavity obliteration"},{"scope":"EXACT","text":"Narrowing of bone marrow canal"},{"scope":"EXACT","text":"Narrowing of bone medullary canal"},{"scope":"EXACT","text":"Narrowing of the marrow cavity"}]} +{"alt_ids":[],"definition":"Any deviation from the normal level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.","id":"HP:0032459","name":"Abnormal phosphoribosylpyrophosphate synthetase level","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.","id":"HP:0032460","name":"Decreased phosphoribosylpyrophosphate synthetase level","obsolete":false,"parents":["HP:0032459"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0032461","name":"obsolete Tiger-tail banding","obsolete":true,"parents":[],"replaced_by":["HP:0045055"],"synonyms":[]} +{"alt_ids":[],"definition":"An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation.","id":"HP:0032462","name":"Increased circulating palmitate level","obsolete":false,"parents":["HP:0003455"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction below the normal concentration of fibronectin the the blood circulation.","id":"HP:0032463","name":"Reduced circulating fibronectin level","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased plasma fibronectin"}]} +{"alt_ids":[],"definition":"Underdevelopment of the ureter.","id":"HP:0032464","name":"Ureteral hypoplasia","obsolete":false,"parents":["HP:0025633"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplasia of the ureter"},{"scope":"EXACT","text":"Ureter hypoplasia"}]} +{"alt_ids":[],"definition":"Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface.","id":"HP:0032465","name":"Bladder trabeculation","obsolete":false,"parents":["HP:0025487"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Trabecular bladder"}]} +{"alt_ids":[],"definition":"Lack of formation (congenital absence) of the olfactory bulb.","id":"HP:0032466","name":"Aplasia of the olfactory bulb","obsolete":false,"parents":["HP:0040327"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aplastic olfactory bulb"},{"scope":"EXACT","text":"Olfactory bulb aplasia"}]} +{"alt_ids":[],"definition":"Information about past pregnancies including gravidity (number of times a woman has been pregnant, regardless of the outcome), parity (total number of births), gestational age of births, and medical conditions related to past pregnancies.","id":"HP:0032467","name":"Past obstetric history","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Maternal medical history"}]} +{"alt_ids":[],"definition":"One or more previous pregnancies resulted in stillbirth, defined as death of a fetus in the later stages of pregnancy (definitions in the literature vary, with cut-offs ranging from 20 to 28 weeks gestation).","id":"HP:0032468","name":"History of stillbirth","obsolete":false,"parents":["HP:0032467"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation.","id":"HP:0032469","name":"Anti-asialoglycoprotein receptor antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The hair shaft has a beaded appearance due to the presence of elliptical nodes that have the diameter of normal hair and are medullated, regularly separated by internodes that are narrow, devoid of medulla and are the site of fracture.","id":"HP:0032470","name":"Monilethrix","obsolete":false,"parents":["HP:0003328"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Polymicrogyria affecting one or multiple small areas of the cerebral cortex.","id":"HP:0032471","name":"Focal polymicrogyria","obsolete":false,"parents":["HP:0002126"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal concentration of urobilinogen in the urine.","id":"HP:0032472","name":"Abnormal urine urobilinogen level","obsolete":false,"parents":["HP:6000531"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally reduced concentration of urobilinogen in the urine.","id":"HP:0032473","name":"Decreased urine urobilinogen","obsolete":false,"parents":["HP:0032472"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0032475","name":"6-layered lissencephaly","obsolete":false,"parents":["HP:0001339"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal concentration of vitamin B6 in the blood circulation.","id":"HP:0032476","name":"Abnormal circulating vitamin B6 concentration","obsolete":false,"parents":["HP:0004340"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Abnormal circulating pyridoxal 5'-phosphate concentration"},{"scope":"EXACT","text":"Abnormal circulating vitamin B6 level"}]} +{"alt_ids":[],"definition":"An abnormally increased concentration of vitamin B6 in the blood circulation.","id":"HP:0032477","name":"Elevated circulating vitamin B6 concentration","obsolete":false,"parents":["HP:0032476"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating vitamin B6 level"}]} +{"alt_ids":[],"definition":"Protrusion of the arachnoid and dura through spinal foramina.","id":"HP:0032478","name":"Lateral spinal meningocele","obsolete":false,"parents":["HP:0002435"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development.","id":"HP:0032479","name":"Preimplantation lethality","obsolete":false,"parents":["HP:0033335"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Early embryonic arrest"},{"scope":"EXACT","text":"Preimplantation embryonic lethality"}]} +{"alt_ids":[],"definition":"An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine.","id":"HP:0032480","name":"Beta-aminoisobutyric aciduria","obsolete":false,"parents":["HP:0033098"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).","id":"HP:0032481","name":"Abnormal pituitary glycoprotein hormone alpha subunit level","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).","id":"HP:0032482","name":"Decreased pituitary glycoprotein hormone alpha subunit level","obsolete":false,"parents":["HP:0032481"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased pituitary glycoprotein alpha subunit level"},{"scope":"EXACT","text":"Decreased pituitary glycoprotein polypeptide alpha subunit level"}]} +{"alt_ids":[],"definition":null,"id":"HP:0032483","name":"obsolete Abnormal fecal test result","obsolete":true,"parents":[],"replaced_by":["HP:0031685"],"synonyms":[]} +{"alt_ids":[],"definition":"An elevated concentration of sodium in feces.","id":"HP:0032484","name":"Elevated fecal sodium","obsolete":false,"parents":["HP:0031685"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated faecal sodium"}]} +{"alt_ids":[],"definition":"Abnormal concentration of feces as assessed by the total number of solute particles per kilogram.","id":"HP:0032485","name":"Abnormal fecal osmolality","obsolete":false,"parents":["HP:0031685"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal faecal osmolality"}]} +{"alt_ids":[],"definition":"Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram.","id":"HP:0032486","name":"Elevated fecal osmolality","obsolete":false,"parents":["HP:0032485"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated faecal osmolality"}]} +{"alt_ids":[],"definition":"Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram.","id":"HP:0032487","name":"Reduced fecal osmolality","obsolete":false,"parents":["HP:0032485"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced faecal osmolality"}]} +{"alt_ids":[],"definition":"Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline.","id":"HP:0032488","name":"Abnormal fecal pH","obsolete":false,"parents":["HP:0031685"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal faecal pH"}]} +{"alt_ids":[],"definition":"Abnormally high fecal pH, i.e., abnormal alkalinity of feces.","id":"HP:0032489","name":"Elevated fecal pH","obsolete":false,"parents":["HP:0032488"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated faecal pH"},{"scope":"EXACT","text":"Stool pH high"}]} +{"alt_ids":[],"definition":"Abnormally low fecal pH, i.e., abnormal acidity of feces.","id":"HP:0032490","name":"Decreased fecal pH","obsolete":false,"parents":["HP:0032488"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased faecal pH"},{"scope":"EXACT","text":"Stool pH low"}]} +{"alt_ids":[],"definition":"An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation.","id":"HP:0032491","name":"Increased circulating argininosuccinic acid","obsolete":false,"parents":["HP:0033109"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein.","id":"HP:0032492","name":"Anti-myelin oligodendrocyte glycoprotein antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-MOG antibody positivity"}]} +{"alt_ids":[],"definition":"The concentration of trypsinogen in the blood circulation is above the upper limit of normal.","id":"HP:0032493","name":"Elevated circulating trypsinogen concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased immunoreactive trypsinogen"}]} +{"alt_ids":[],"definition":"A deviation from the normal proportion of terminal to vellus hairs.","id":"HP:0032495","name":"Abnormal terminal:vellus ratio","obsolete":false,"parents":["HP:0010720"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased proportion of terminal hairs compared to vellus hairs.","id":"HP:0032496","name":"Elevated terminal:vellus ratio","obsolete":false,"parents":["HP:0032495"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia.","id":"HP:0032497","name":"Reduced terminal:vellus ratio","obsolete":false,"parents":["HP:0032495"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation.","id":"HP:0032499","name":"Giant neutrophil granules","obsolete":false,"parents":["HP:0011992"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applied to a sign or symptom that is worsened by smoking tobacco products.","id":"HP:0032500","name":"Exacerbated by tobacco use","obsolete":false,"parents":["HP:0025285"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aggravated by tobacco use"},{"scope":"EXACT","text":"Exacerbated by smoking"},{"scope":"EXACT","text":"Smoking or tobacco use exacerbates symptoms"}]} +{"alt_ids":[],"definition":"Applied to a sign or symptom that is worsened by taking contraceptive medication.","id":"HP:0032501","name":"Exacerbated by contraceptive medication exposure","obsolete":false,"parents":["HP:4000176"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Contraceptive pills aggravate symptoms"}]} +{"alt_ids":[],"definition":"Applied to a sign or symptom that is worsened by taking barbituates.","id":"HP:0032502","name":"Exacerbated by barbiturate exposure","obsolete":false,"parents":["HP:4000176"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Barbiturates produce worsening"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by drinking alcohol (ethanol).","id":"HP:0032503","name":"Ameliorated by ethanol ingestion","obsolete":false,"parents":["HP:0025254"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ethanol reduces manifestations"}]} +{"alt_ids":[],"definition":"An electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk.","id":"HP:0032504","name":"Lhermitte's sign","obsolete":false,"parents":["HP:0012638"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Barber chair phenomenon"},{"scope":"EXACT","text":"Lhermitte's phenomenon"}]} +{"alt_ids":[],"definition":"The word hydrophobia has been used to describe the avoidance of drinking in the presence of hydrophobic spasms that can be observed in human rabies (described as a blockage in the throat with worsening of dyspnea). However, rarely, the same word has been used to describe panic reactions observed in a patient when offered a glass of water. This term does not refer to the latter meaning.","id":"HP:0032505","name":"Hydrophobia","obsolete":false,"parents":["HP:0002015"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb.","id":"HP:0032506","name":"Alien limb phenomenon","obsolete":false,"parents":["HP:0004305"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fasciculations affecting the tongue muscle and the musculature of the chin.","id":"HP:0032507","name":"Labiomental fasciculations","obsolete":false,"parents":["HP:0007089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fasciculations, labiomental"}]} +{"alt_ids":[],"definition":"Habitual insertion of foreign bodies into bodily orifices.","id":"HP:0032508","name":"Polyembolokoilamania","obsolete":false,"parents":["HP:5200065"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails.","id":"HP:0032509","name":"Onychotillomania","obsolete":false,"parents":["HP:0012170","HP:5200065"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to a tendon.","id":"HP:0032510","name":"Tendon pain","obsolete":false,"parents":["HP:0012531"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The position of the umbilicus (belly button) is abnormally high (superior).","id":"HP:0032511","name":"Superiorly positioned umbilicus","obsolete":false,"parents":["HP:0001551"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Four-vessel umbilical cord containing two arteries and two veins.","id":"HP:0032513","name":"Four-vessel umbilical cord","obsolete":false,"parents":["HP:0011403"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital developmental anomaly characterized by the presence of an additional lacrimal punctum in an eyelid.","id":"HP:0032514","name":"Supernumerary lacrimal punctum","obsolete":false,"parents":["HP:0011479"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Accessory puncta"},{"scope":"EXACT","text":"Double lacrimal puncta"},{"scope":"EXACT","text":"Double punctum"},{"scope":"EXACT","text":"Lacrimal punctum, duplication"},{"scope":"EXACT","text":"Punctum reduplication"},{"scope":"EXACT","text":"Supernumerary punctum"}]} +{"alt_ids":[],"definition":"A type of invasive dermatophyte infection of the deep dermis characterized by extensive dermal infiltration by fungal elements.","id":"HP:0032515","name":"Deep dermatophytosis","obsolete":false,"parents":["HP:0032516"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Infection that extends deeply into the dermis by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails.","id":"HP:0032516","name":"Severe dermatophyte infection","obsolete":false,"parents":["HP:5210375"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated dermatophyte infection"},{"scope":"EXACT","text":"Invasive dermatophyte infection"}]} +{"alt_ids":[],"definition":"Majocchi's granuloma (MG) is an inflammatory and granulomatous, dermatophytic infection characterized by a granulomatous inflammation around the hair follicle. Histopathologically, MG demonstrates a nodular perifollicular granulomatous infiltrate of lymphoid cells, macrophages, epithelioid cells, multinucleated giant cells, and neutrophils. Unlike superficial dermatophytoses, fungal hyphae and spores can be detected not only on the surface of the epidermis but also within or around the hair follicles.","id":"HP:0032517","name":"Majocchi's granuloma","obsolete":false,"parents":["HP:0032516"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs.","id":"HP:0032518","name":"Disseminated dermatophytosis","obsolete":false,"parents":["HP:0032516"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals.","id":"HP:0032519","name":"Increased Burr cell count","obsolete":false,"parents":["HP:0001877"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced strength of the masseter muscle, whose primary function is to elevate the mandible and thereby raise the mandible towards the maxilla, closing the jaw.","id":"HP:0032520","name":"Masseter muscular weakness","obsolete":false,"parents":["HP:0031815"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting.","id":"HP:0032521","name":"Self hugging","obsolete":false,"parents":["HP:4000079","HP:5200019"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spasmodic upper-body squeeze"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by treatment with immunosuppresive medication.","id":"HP:0032522","name":"Ameliorated by immunosuppresion","obsolete":false,"parents":["HP:0034536"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Immunosupressive therapy improves condition"}]} +{"alt_ids":[],"definition":"An abnormal increase in the thickness (diameter) of a tendon.","id":"HP:0032523","name":"Tendon thickening","obsolete":false,"parents":["HP:0100261"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Length of the thumb is greater than normal.","id":"HP:0032524","name":"Long thumb","obsolete":false,"parents":["HP:0001172"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applied to a sign or symptom that is worsened by treatment with an acetylcholinesterase inhibitor such as tensilon (edrophonium) or pyridostigmine (Mestinon).","id":"HP:0032525","name":"Exacerbated by acetylcholinesterase inhibitor exposure","obsolete":false,"parents":["HP:4000176"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by an acetylcholinesterase inhibitor such as mestinon or tensilon.","id":"HP:0032526","name":"Ameliorated by acetylcholinesterase inhibitor","obsolete":false,"parents":["HP:0034536"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The position of the umbilicus (belly button) is abnormally low (inferior).","id":"HP:0032527","name":"Inferiorly positioned umbilicus","obsolete":false,"parents":["HP:0001551"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low set umbilicus"},{"scope":"EXACT","text":"Low-set umbilicus"}]} +{"alt_ids":[],"definition":"An increased amount of 4-hydroxybutyric acid in the urine.","id":"HP:0032528","name":"Elevated urinary 4-hydroxybutyric acid","obsolete":false,"parents":["HP:0033303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0032529","name":"obsolete Elevated circulating gamma-aminobutyric acid concentration","obsolete":true,"parents":[],"replaced_by":["HP:0410053"],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced level of succinic semialdehyde dehydrogenase (SSADH).","id":"HP:0032530","name":"Decreased tissue succinic semialdehyde dehydrogenase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased succinic semialdehyde dehydrogenase activity in cultured fibroblasts"},{"scope":"EXACT","text":"Decreased succinic semialdehyde dehydrogenase leukocyte activity"},{"scope":"EXACT","text":"Decreased succinic semialdehyde dehydrogenase level"}]} +{"alt_ids":[],"definition":null,"id":"HP:0032531","name":"Elevated CSF gamma-aminobutyric acid concentration","obsolete":false,"parents":["HP:0500183"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gamma-aminobutyric acid (GABA) high in CSF"}]} +{"alt_ids":[],"definition":"Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF).","id":"HP:0032532","name":"Elevated CSF 4-hydroxybutyric acid concentration","obsolete":false,"parents":["HP:0500183"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated CSF GHB levels"},{"scope":"EXACT","text":"Elevated CSF gamma-hydroxybutyric acid"}]} +{"alt_ids":[],"definition":"An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies.","id":"HP:0032533","name":"Elevated circulating acetone concentration","obsolete":false,"parents":["HP:0410175"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applied to a sign or symptom that is worsened by ingestion of food containing a methylxanthine compound (for instance, coffee, caffeine, chocolate).","id":"HP:0032534","name":"Exacerbated by methylxanthine ingestion","obsolete":false,"parents":["HP:0025285"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Methylxanthines produce worsening"}]} +{"alt_ids":[],"definition":"Applies to an abnormality that is situated in the neck.","id":"HP:0032535","name":"Cervical (neck)","obsolete":false,"parents":["HP:0012838"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally elevated number of lymph nodes in an anatomical region.","id":"HP:0032536","name":"Increased number of lymph nodes","obsolete":false,"parents":["HP:0002733"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A delay in healing of a fracture past the expected duration.","id":"HP:0032537","name":"Delayed fracture healing","obsolete":false,"parents":["HP:0011843"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lengthen as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg.","id":"HP:0032538","name":"Pretibial dimple","obsolete":false,"parents":["HP:0010781"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality that is situated in extensor surface of the joint. The extensor surface refers to the skin on the opposite side of a joint.","id":"HP:0032539","name":"Joint extensor surface localization","obsolete":false,"parents":["HP:0012838"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality that is situated in flexor surface of the joint. The flexor surface refers to the skin that touches when a joint is bent (flexed).","id":"HP:0032540","name":"Joint flexor surface localization","obsolete":false,"parents":["HP:0012838"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern.","id":"HP:0032541","name":"Knuckle pad","obsolete":false,"parents":["HP:0011356"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"DDN"},{"scope":"EXACT","text":"Dorsal dupuytren nodules"},{"scope":"EXACT","text":"Knuckle pads on dorsal aspect of finger joints"}]} +{"alt_ids":[],"definition":"Applied to a sign or symptom that is worsened by being pregnant.","id":"HP:0032542","name":"Exacerbated by pregnancy","obsolete":false,"parents":["HP:0025285"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen.","id":"HP:0032543","name":"Lithoptysis","obsolete":false,"parents":["HP:0032016"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality that mainly affects the small joints, including fingers, toes, interphalangeal, metacarpophalangeal, metatarsophalangeal, wrists, ankles, vertebrae, and neck.","id":"HP:0032544","name":"Predominant small joint localization","obsolete":false,"parents":["HP:0012838"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Involuntary tightening of the abdominal musculature that occurs in response to touching the abdomen to avoid pain. Rigidity can occur in the presence of abdominal inflammation and usually involves only the inflamed area.","id":"HP:0032545","name":"Abdominal rigidity","obsolete":false,"parents":["HP:0002027"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rigid abdomen"}]} +{"alt_ids":[],"definition":"A voluntary contraction of the abdominal wall musculature to avoid pain.","id":"HP:0032546","name":"Abdominal guarding","obsolete":false,"parents":["HP:0002027"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal decrease of the pressure within the eye.","id":"HP:0032547","name":"Low intraocular pressure","obsolete":false,"parents":["HP:0012632"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ocular hypotony"}]} +{"alt_ids":[],"definition":"Abnormally elevated placental thickness.","id":"HP:0032548","name":"Increased placental thickness","obsolete":false,"parents":["HP:0012767"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Placental thickness increased"}]} +{"alt_ids":[],"definition":"Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers.","id":"HP:0032549","name":"Persistent asymmetrical tonic neck reflex","obsolete":false,"parents":["HP:0002476"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Persistent fencer's reflex"},{"scope":"EXACT","text":"Tonic neck reflex asymmetrical and persistent"}]} +{"alt_ids":[],"definition":"Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets.","id":"HP:0032550","name":"Howell-Jolly bodies","obsolete":false,"parents":["HP:0020080"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Enlarged, bulging blood vessels in and around the anus often associated with rectal bleeding, itching, and pain.","id":"HP:0032551","name":"Hemorrhoids","obsolete":false,"parents":["HP:0002034"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Haemorrhoids"},{"scope":"EXACT","text":"Piles"}]} +{"alt_ids":[],"definition":"An anomaly of the rhythmic throbbing of an artery that reflects the widening of the artery as blood flows through it and is caused by successive contractions of the heart.","id":"HP:0032552","name":"Abnormal pulse","obsolete":false,"parents":["HP:0025323"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse.","id":"HP:0032553","name":"Weak pulse","obsolete":false,"parents":["HP:0032552"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination.","id":"HP:0032554","name":"Absent pulse","obsolete":false,"parents":["HP:0032552"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased amplitude (strength) of the pulse.","id":"HP:0032555","name":"Bounding pulse","obsolete":false,"parents":["HP:0032552"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Persistent blue color of the skin that surrounds the mouth.","id":"HP:0032556","name":"Circumoral cyanosis","obsolete":false,"parents":["HP:0034031"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bluish around mouth"}]} +{"alt_ids":[],"definition":"A past medical history of hematopoietic stem cell transplantation involving myeloablative chemoradiotherapy followed by stem cell rescue with autologous or human leukocyte antigen (HLA)-matched stem cells derived from a donor.","id":"HP:0032557","name":"History of bone marrow transplant","obsolete":false,"parents":["HP:0430103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Status post haematopoietic stem cell transplantation"},{"scope":"EXACT","text":"Status post hematopoietic stem cell transplantation"}]} +{"alt_ids":[],"definition":"Sperm cells lacking flagella.","id":"HP:0032558","name":"Absent sperm flagella","obsolete":false,"parents":["HP:0012868"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Sperm cells with abnormally short flagella.","id":"HP:0032559","name":"Short sperm flagella","obsolete":false,"parents":["HP:0012868"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Sperm cells whose flagella are twisted (coiled).","id":"HP:0032560","name":"Coiled sperm flagella","obsolete":false,"parents":["HP:0012868"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased size of the head of sperm.","id":"HP:0032561","name":"Microcephalic sperm head","obsolete":false,"parents":["HP:0012865"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small-head sperm"}]} +{"alt_ids":[],"definition":"Sperm with cigar-shaped heads that gradually dimish in diameter (taper).","id":"HP:0032562","name":"Tapered sperm head","obsolete":false,"parents":["HP:0012865"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of teardrop-shaped red blood cells.","id":"HP:0032563","name":"Dacryocytosis","obsolete":false,"parents":["HP:0004447"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dacryocytes"},{"scope":"EXACT","text":"Tear-drop shaped erythrocytes"}]} +{"alt_ids":[],"definition":"Inflammation of the ileum.","id":"HP:0032564","name":"Ileitis","obsolete":false,"parents":["HP:0001549"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inflammation of the ileum"}]} +{"alt_ids":[],"definition":null,"id":"HP:0032565","name":"Vaginal mucosal ulceration","obsolete":false,"parents":["HP:0000142"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Enlarged, oval-shaped erythrocytes (red blood cells).","id":"HP:0032566","name":"Oval macrocytosis","obsolete":false,"parents":["HP:0004447"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased lipid content in the urine.","id":"HP:0032567","name":"Lipiduria","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Urinary lipid excretion"}]} +{"alt_ids":[],"definition":"Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance.","id":"HP:0032568","name":"Urinary mulberry cells","obsolete":false,"parents":["HP:0012614"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Prominence (bulging) in the temple region, which is the part of the skull where the frontal, parietal, temporal, and sphenoid bones join on the side of the head.","id":"HP:0032569","name":"Temporal bossing","obsolete":false,"parents":["HP:0009911"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons.","id":"HP:0032570","name":"Pontine ischemic lacunes","obsolete":false,"parents":["HP:0007361","HP:0032325"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pontine ischaemic lacunes"}]} +{"alt_ids":[],"definition":"An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization.","id":"HP:0032571","name":"Increased oocyte death","obsolete":false,"parents":["HP:0011017"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal level of a nucleobase in the urine. Nucleobases are nitrogen-containing biological compounds that form nucleosides: adenine (A), cytosine (C), guanine (G), thymine (T), and uracil (U).","id":"HP:0032572","name":"Abnormal urinary nucleobase concentration","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond.","id":"HP:0032573","name":"Elevated urinary cytidine","obsolete":false,"parents":["HP:0033162"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond.","id":"HP:0032574","name":"Elevated urinary uridine level","obsolete":false,"parents":["HP:0033162"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated uridine in urine"}]} +{"alt_ids":[],"definition":"A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid.","id":"HP:0032575","name":"Decreased circulating 12-HETE","obsolete":false,"parents":["HP:0011022"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating 12-Hydroxyeicosatetraenoic acid concentration"}]} +{"alt_ids":[],"definition":"Intracellular accumulation of the lipid-linked oligosaccharide intermediate Man5GlcNAc2-PP-dolichol.","id":"HP:0032576","name":"Intracellular accumulation of Dol-PP-GlcNAc2Man5","obsolete":false,"parents":["HP:0011017"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone.","id":"HP:0032577","name":"Clonal T cell receptor rearrangement","obsolete":false,"parents":["HP:0025845"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An epithelial lined cyst filled with gelatinous material. The gelatinous material commonly contains mucin, old blood, cholesterol, and ions. Most colloid cysts identified are currently asymptomatic and identified incidentally on imaging. When a colloid cyst does cause issues, it most commonly causes obstructive hydrocephalus.","id":"HP:0032578","name":"Third ventricle colloid cyst","obsolete":false,"parents":["HP:0010576","HP:0010951"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign focal growth composed of vascular tissue.","id":"HP:0032579","name":"Vascular hamartoma","obsolete":false,"parents":["HP:0010566"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis.","id":"HP:0032580","name":"Abnormal bulbus cordis morphology","obsolete":false,"parents":["HP:0001627"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid.","id":"HP:0032581","name":"Abnormal renal interstitial morphology","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles.","id":"HP:0032582","name":"Renal interstitial foam cells","obsolete":false,"parents":["HP:0003651","HP:0032581"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0032583","name":"Renal glomerular foam cells","obsolete":false,"parents":["HP:0000095","HP:0003651"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased numbers of neutrophils in the interstitial tissues of the kidney.","id":"HP:0032584","name":"Renal interstitial neutrophil infiltration","obsolete":false,"parents":["HP:0032581"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased numbers of eosinophils in the interstitial tissues of the kidney.","id":"HP:0032585","name":"Renal interstitial eosinophil infiltration","obsolete":false,"parents":["HP:0032581"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased numbers of plasma cells in the interstitial tissues of the kidney.","id":"HP:0032586","name":"Renal interstitial plasma cell infiltration","obsolete":false,"parents":["HP:0032581"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney.","id":"HP:0032587","name":"Renal interstitial calcium oxalate","obsolete":false,"parents":["HP:0008672","HP:0032581"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects.","id":"HP:0032588","name":"Hand apraxia","obsolete":false,"parents":["HP:0002186"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lack of purposeful hand use"}]} +{"alt_ids":[],"definition":"Infiltration of the renal tubular epithelium by lymphocytes.","id":"HP:0032589","name":"Renal lymphocytic tubulitis","obsolete":false,"parents":["HP:0000091"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Infiltration of the renal tubular epithelium by neutrophils.","id":"HP:0032590","name":"Renal neutrophilic tubulitis","obsolete":false,"parents":["HP:0000091"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney.","id":"HP:0032591","name":"Renal interstitial hemosiderin","obsolete":false,"parents":["HP:0032644"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Congenital absence of the right-sided diaphragm.","id":"HP:0032592","name":"Aplasia of the right hemidiaphragm","obsolete":false,"parents":["HP:0000776","HP:0040047"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Right diaphragmatic hernia"}]} +{"alt_ids":[],"definition":"A type of acelluar casts with positive myoglobin staining A that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented.","id":"HP:0032593","name":"Myoglobin casts","obsolete":false,"parents":["HP:0031199"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Naked basement membranes without tubular epithelium.","id":"HP:0032594","name":"Renal tubular basement membrane denudation","obsolete":false,"parents":["HP:0020131"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Denuded tubular basement membrane"}]} +{"alt_ids":[],"definition":"Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved.","id":"HP:0032595","name":"Renal tubular epithelial cell detachment","obsolete":false,"parents":["HP:0032599"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size.","id":"HP:0032596","name":"Renal tubular epithelial cell cytoplasmic vacuolization","obsolete":false,"parents":["HP:0032599"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast.","id":"HP:0032597","name":"Renal tubular epithelial cell sloughing","obsolete":false,"parents":["HP:0032599"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule.","id":"HP:0032598","name":"Blebbing of apical cytoplasm of renal tubular epithelial cells","obsolete":false,"parents":["HP:0032599"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine.","id":"HP:0032599","name":"Abnormal renal tubular epithelial morphology","obsolete":false,"parents":["HP:0000091"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell.","id":"HP:0032600","name":"Renal tubular epithelial cell hyaline droplets","obsolete":false,"parents":["HP:0032599"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view.","id":"HP:0032601","name":"Multinucleation of renal tubular epithelial cells","obsolete":false,"parents":["HP:0032599"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Tubular epithelium with nucleoli clearly visible at 100-fold magnification.","id":"HP:0032602","name":"Prominent nucleoli of renal tubular epithelial cells","obsolete":false,"parents":["HP:0032599"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts.","id":"HP:0032603","name":"Renal tubular epithelial cell simplification","obsolete":false,"parents":["HP:0032599"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration.","id":"HP:0032604","name":"Renal tubular epithelial cell mitosis","obsolete":false,"parents":["HP:0032599"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei.","id":"HP:0032605","name":"High renal tubular epithelial cell N/C ratio","obsolete":false,"parents":["HP:0032599"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High N/C ratio of renal tubular epithelial cells"}]} +{"alt_ids":[],"definition":"Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules.","id":"HP:0032606","name":"Renal tubular epithelial lipofuscin","obsolete":false,"parents":["HP:0032599"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen.","id":"HP:0032607","name":"Renal tubular epithelial cell swelling","obsolete":false,"parents":["HP:0032599"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts.","id":"HP:0032608","name":"Thyroidization-type tubular atrophy","obsolete":false,"parents":["HP:0000092"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes.","id":"HP:0032609","name":"Endocrine-type tubular atrophy","obsolete":false,"parents":["HP:0000092"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Endocrinization pattern of tubular atrophy"},{"scope":"EXACT","text":"Renal tubular atrophy, endocrine-type"}]} +{"alt_ids":[],"definition":"Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation.","id":"HP:0032610","name":"Tubulointerstitial mycobacterial infiltration","obsolete":false,"parents":["HP:0032635"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Renal tubulointerstitial mycobacterial organisms"}]} +{"alt_ids":[],"definition":"Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment.","id":"HP:0032611","name":"Renal tubular epithelial cell hemosiderin","obsolete":false,"parents":["HP:0032599"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A hallux (big toe) with three phalanges in a single, proximo-distal axis.","id":"HP:0032612","name":"Triphalangeal hallux","obsolete":false,"parents":["HP:0010057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation.","id":"HP:0032613","name":"Renal interstitial amyloid deposits","obsolete":false,"parents":["HP:0001917","HP:0032644"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Renal interstitial amyloid"},{"scope":"EXACT","text":"Renal interstitial amyloid deposition"},{"scope":"EXACT","text":"Renal interstitial amyloidosis"}]} +{"alt_ids":[],"definition":"Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries.","id":"HP:0032614","name":"Renal glomerular amyloid deposition","obsolete":false,"parents":["HP:0001917"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images.","id":"HP:0032615","name":"Abnormal diffusion weighted cerebral MRI morphology","obsolete":false,"parents":["HP:0002060"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Diffusion weighted imaging (DWI) abnormality"},{"scope":"EXACT","text":"Diffusion weighted magnetic resonance imaging (DWI) abnormality"},{"scope":"EXACT","text":"MRI diffusion abnormality of the cerebrum"}]} +{"alt_ids":[],"definition":"Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining).","id":"HP:0032616","name":"Renal interstitial immunoglobulin deposits","obsolete":false,"parents":["HP:0032644"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Renal interstitial immunoglobulin deposition"}]} +{"alt_ids":[],"definition":"A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core.","id":"HP:0032617","name":"Renal interstitial hemorrhage","obsolete":false,"parents":["HP:0032581"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Renal interstitial haemorrhage"}]} +{"alt_ids":[],"definition":"Cell death (necrosis) affecting one or more parts of the kidney.","id":"HP:0032618","name":"Renal necrosis","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Renal parenchymal necrosis"}]} +{"alt_ids":[],"definition":"A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney).","id":"HP:0032619","name":"Perinephric abscess","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis.","id":"HP:0032620","name":"Intrarenal abscess","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Renal abscess"},{"scope":"EXACT","text":"Renal parenchymal abscess"}]} +{"alt_ids":[],"definition":"At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes.","id":"HP:0032621","name":"Hyperchromasia of renal tubular epithelial cells","obsolete":false,"parents":["HP:0032599"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Condensed chromatin of renal tubular epithelial cells"}]} +{"alt_ids":[],"definition":"Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen.","id":"HP:0032622","name":"Tubular luminal dilatation","obsolete":false,"parents":["HP:0032950"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tubular ectasia"}]} +{"alt_ids":[],"definition":"Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast.","id":"HP:0032623","name":"Renal intratubular casts","obsolete":false,"parents":["HP:0000091"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tubular casts"}]} +{"alt_ids":[],"definition":"A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green).","id":"HP:0032624","name":"Intratubular bilirubin casts","obsolete":false,"parents":["HP:0032623"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Casts that contain red blood cells and are located within the tubuli of the kidney.","id":"HP:0032625","name":"Intratubular erythrocyte cast","obsolete":false,"parents":["HP:0032623"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Intratubular casts composed of vancomycin aggregates and uromodulin.","id":"HP:0032626","name":"Intratubular vancomycin casts","obsolete":false,"parents":["HP:0032623"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Casts that contain white blood cells and are located within the tubuli of the kidney.","id":"HP:0032627","name":"Intratubular leukocyte casts","obsolete":false,"parents":["HP:0032623"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0032628","name":"Renal intratubular crystals","obsolete":false,"parents":["HP:0000091"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver.","id":"HP:0032629","name":"Intratubular dihydroxyadenuria crystals","obsolete":false,"parents":["HP:0032628"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules.","id":"HP:0032630","name":"Intratubular light-chain casts","obsolete":false,"parents":["HP:0032623"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A.","id":"HP:0032631","name":"Intratubular hemoglobin casts","obsolete":false,"parents":["HP:0032623"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intratubular haemoglobin casts"}]} +{"alt_ids":[],"definition":"Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei.","id":"HP:0032632","name":"Renal papillary necrosis","obsolete":false,"parents":["HP:0032618"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends.","id":"HP:0032633","name":"Intratubular hyaline casts","obsolete":false,"parents":["HP:0032623"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intratubular Tamm-Horsfall (uromodulin) casts"}]} +{"alt_ids":[],"definition":"Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells.","id":"HP:0032634","name":"Intratubular myoglobin cast","obsolete":false,"parents":["HP:0032623"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain.","id":"HP:0032635","name":"Tubulointerstitial microganismal infiltration","obsolete":false,"parents":["HP:0001969"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry.","id":"HP:0032636","name":"Tubulointerstitial viral infiltration","obsolete":false,"parents":["HP:0001969"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Renal tubulointerstitial viral inclusions"}]} +{"alt_ids":[],"definition":"Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density.","id":"HP:0032637","name":"Renal interstitial edema","obsolete":false,"parents":["HP:0032581"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Renal interstitial oedema"}]} +{"alt_ids":[],"definition":"An abnormally increased amount of mevanolate in the urine. Mevanolate is that hydroxy monocarboxylic acid anion that is the conjugate base of mevalonic acid.","id":"HP:0032638","name":"Elevated urine mevalonic acid level","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urine mevalonate"},{"scope":"EXACT","text":"Elevated urine mevalonate levels"},{"scope":"EXACT","text":"Elevated urine mevalonic acid"},{"scope":"EXACT","text":"Mevalonate aciduria"}]} +{"alt_ids":[],"definition":"An increased concentration of cystine within white blood cells.","id":"HP:0032639","name":"Elevated leukocyte cystine","obsolete":false,"parents":["HP:0003358"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of CCL18 in the blood circulation is above the upper limit of normal.","id":"HP:0032640","name":"Elevated circulating CCL18 concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated C-C motif chemokine 18 concentration"},{"scope":"EXACT","text":"Elevated C-C motif chemokine 18 level"},{"scope":"EXACT","text":"Elevated C-C motif chemokine 18 level in blood"},{"scope":"EXACT","text":"Increased C-C motif chemokine 18 concentration"},{"scope":"EXACT","text":"Increased C-C motif chemokine 18 level"},{"scope":"EXACT","text":"Increased C-C motif chemokine 18 level in blood"},{"scope":"EXACT","text":"Increased C-C motif chemokine ligand 18 concentration"}]} +{"alt_ids":[],"definition":"Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present.","id":"HP:0032641","name":"Renal interstitial granulomas","obsolete":false,"parents":["HP:0032581"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Renal interstitial granulomata"}]} +{"alt_ids":[],"definition":"An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation.","id":"HP:0032642","name":"Renal interstitial necrotizing granulomas","obsolete":false,"parents":["HP:0032641"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Renal interstitial necrotizing granulomata"}]} +{"alt_ids":[],"definition":"Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis.","id":"HP:0032643","name":"Renal interstitial non-necrotizing granulomas","obsolete":false,"parents":["HP:0032641"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Renal interstitial non-necrotizing granulomata"}]} +{"alt_ids":[],"definition":"Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney.","id":"HP:0032644","name":"Renal interstitial deposits","obsolete":false,"parents":["HP:0032581"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei).","id":"HP:0032645","name":"Renal interstitial mononuclear cell infiltration","obsolete":false,"parents":["HP:0032581"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells.","id":"HP:0032646","name":"Renal interstitial xanthogranulomatous inflammation","obsolete":false,"parents":["HP:0032581"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells are rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris.","id":"HP:0032647","name":"Renal tubular epithelial cell apoptosis","obsolete":false,"parents":["HP:0032599"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus.","id":"HP:0032648","name":"Tubularization of Bowman capsule","obsolete":false,"parents":["HP:0031264"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occur under the metatarsal heads and the head of the plantar-flexed talus.","id":"HP:0032649","name":"Skewfoot","obsolete":false,"parents":["HP:0001763"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Skew foot"},{"scope":"EXACT","text":"Skew-foot"}]} +{"alt_ids":[],"definition":"Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid.","id":"HP:0032650","name":"Elevated CSF glial fibrillary acidic protein concentration","obsolete":false,"parents":["HP:0025456"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated CSF glial fibrillary acidic protein level"}]} +{"alt_ids":[],"definition":"Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid.","id":"HP:0032651","name":"Elevated CSF chitinase-3-like protein 1 concentration","obsolete":false,"parents":["HP:0025456"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated CSF chitinase-3-like protein 1 level"}]} +{"alt_ids":[],"definition":"Increased concentration of chitotriosidase 1 in cerebrospinal fluid.","id":"HP:0032652","name":"Elevated CSF chitotriosidase 1 concentration","obsolete":false,"parents":["HP:0025456"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated CSF chitotriosidase 1 level"}]} +{"alt_ids":[],"definition":"An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation.","id":"HP:0032653","name":"Elevated lactate:pyruvate ratio","obsolete":false,"parents":["HP:0004360"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Flow-mediated dilatation is a noninvasive tests of endothelial function that leverages ultrasound to measure arterial diameter and its response to an increase in shear stress, which normally causes endothelium-dependent dilatation. This term pertains to an abnormal reduction in the magnitude of dilatation. Flow-mediated dilatation is usually measured at the brachial artery.","id":"HP:0032654","name":"Impaired flow-mediated arterial dilatation","obsolete":false,"parents":["HP:0025323"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Endothelial dysfunction"}]} +{"alt_ids":[],"definition":"A reduced concentration of tocopherol in fat tissue.","id":"HP:0032655","name":"Decreased adipose tissue tocopherol level","obsolete":false,"parents":["HP:0032243"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult.","id":"HP:0032656","name":"Febrile status epilepticus","obsolete":false,"parents":["HP:0002133","HP:0011172"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fever-induced status epilepticus"}]} +{"alt_ids":[],"definition":"An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation.","id":"HP:0032657","name":"Elevated circulating globotriaosyl lysosphingolipid concentration","obsolete":false,"parents":["HP:0003119"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated Lyso-GL3 concentration"},{"scope":"EXACT","text":"Elevated circulating lyso-globotriaosylsphingosine concentration"},{"scope":"EXACT","text":"Increased Lyso-Gb3 concentration"}]} +{"alt_ids":[],"definition":"Status epilepticus with prominent motor signs during the prolonged seizure.","id":"HP:0032658","name":"Status epilepticus with prominent motor symptoms","obsolete":false,"parents":["HP:0002133"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of status epilepticus without prominent motor symptoms and in the presence of coma.","id":"HP:0032659","name":"Non-convulsive status epilepticus with coma","obsolete":false,"parents":["HP:0031475"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Subtle status epilepticus"}]} +{"alt_ids":[],"definition":"A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.","id":"HP:0032660","name":"Convulsive status epilepticus","obsolete":false,"parents":["HP:0002069","HP:0032658"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tonic-clonic status epilepticus"}]} +{"alt_ids":[],"definition":"A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.","id":"HP:0032661","name":"Generalized convulsive status epilepticus","obsolete":false,"parents":["HP:0025190","HP:0032660"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised convulsive status epilepticus"}]} +{"alt_ids":[],"definition":"A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.","id":"HP:0032662","name":"Focal-onset seizure evolving into bilateral convulsive status epilepticus","obsolete":false,"parents":["HP:0007334","HP:0032660"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal onset seizure evolving into bilateral convulsive status epilepticus"},{"scope":"EXACT","text":"Focal-onset seizure evolving into generalised convulsive status epilepticus"},{"scope":"EXACT","text":"Focal-onset seizure evolving into generalized convulsive status epilepticus"},{"scope":"EXACT","text":"Partial onset seizure evolving into convulsive status epilepticus"},{"scope":"EXACT","text":"Partial-onset seizure evolving into convulsive status epilepticus"},{"scope":"EXACT","text":"Secondarily generalised convulsive status epilepticus"},{"scope":"EXACT","text":"Secondarily generalised tonic-clonic status epilepticus"},{"scope":"EXACT","text":"Secondarily generalized convulsive status epilepticus"},{"scope":"EXACT","text":"Secondarily generalized tonic-clonic status epilepticus"}]} +{"alt_ids":[],"definition":"Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.","id":"HP:0032663","name":"Focal motor status epilepticus","obsolete":false,"parents":["HP:0032658"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus.","id":"HP:0032664","name":"Adversive status epilepticus","obsolete":false,"parents":["HP:0032663"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus.","id":"HP:0032665","name":"Repeated focal motor seizures","obsolete":false,"parents":["HP:0032663"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Jacksonian status epilepticus"}]} +{"alt_ids":[],"definition":"Status epilepticus characterized by continuous hyperkinetic proximal limb or axial muscles producing irregular sequential ballistic movements such as pedaling pelvic thrusting, thrashing, or rocking movements.","id":"HP:0032666","name":"Hyperkinetic status epilepticus","obsolete":false,"parents":["HP:0032658"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography.","id":"HP:0032667","name":"Myoclonic status epilepticus","obsolete":false,"parents":["HP:0032658"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of myoclonic status epilepticus in the absence of coma.","id":"HP:0032668","name":"Myoclonic status epilepticus without coma","obsolete":false,"parents":["HP:0032667"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of myoclonic status epilepticus in the presence of coma.","id":"HP:0032669","name":"Myoclonic status epilepticus with coma","obsolete":false,"parents":["HP:0032667"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal.","id":"HP:0032670","name":"Tonic status epilepticus","obsolete":false,"parents":["HP:0032658"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of status epilepticus without prominent motor symptoms in the absence of coma.","id":"HP:0032671","name":"Non-convulsive status epilepticus without coma","obsolete":false,"parents":["HP:0031475"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal.","id":"HP:0032672","name":"Autonomic status epilepticus","obsolete":false,"parents":["HP:0032671"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically focal. It is a prolonged focal non-motor seizure.","id":"HP:0032673","name":"Focal non-convulsive status epilepticus without coma","obsolete":false,"parents":["HP:0032671"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occurs owing to an injury of the skin. Wound healing is a dynamic, interactive process involving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time.","id":"HP:0032674","name":"Cutaneous wound","obsolete":false,"parents":["HP:0011121"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Skin wound"}]} +{"alt_ids":[],"definition":"A cutaneous wound that is proceeding through an orderly and timely reparative process that results in sustained restoration of the anatomic and functional integrity of the skin.","id":"HP:0032675","name":"Acute cutaneous wound","obsolete":false,"parents":["HP:0032674"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result.","id":"HP:0032676","name":"Chronic cutaneous wound","obsolete":false,"parents":["HP:0032674"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic nonhealing cutaneous wound"}]} +{"alt_ids":[],"definition":"A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.","id":"HP:0032677","name":"Generalized-onset motor seizure","obsolete":false,"parents":["HP:0002197","HP:0020219"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised onset motor seizure"},{"scope":"EXACT","text":"Generalised-onset motor seizure"},{"scope":"EXACT","text":"Generalized onset motor seizure"}]} +{"alt_ids":[],"definition":"An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness.","id":"HP:0032678","name":"Eyelid myoclonia seizure","obsolete":false,"parents":["HP:0002123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal-onset seizure characterized by non-motor signs or symptoms (or behavior arrest) as its initial semiological manifestation.","id":"HP:0032679","name":"Focal non-motor seizure","obsolete":false,"parents":["HP:0007359","HP:0033259"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal seizure without motor onset"},{"scope":"EXACT","text":"Partial seizure without motor onset"}]} +{"alt_ids":["HP:0011162"],"definition":"A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure.","id":"HP:0032680","name":"Focal cognitive seizure","obsolete":false,"parents":["HP:0032679"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cognitive aura"},{"scope":"EXACT","text":"Cognitive seizure"},{"scope":"EXACT","text":"Partial cognitive seizure"}]} +{"alt_ids":["HP:0032683","HP:0032881"],"definition":"A focal aware cognitive seizure during which awareness is retained throughout the seizure.","id":"HP:0032681","name":"Focal aware cognitive seizure","obsolete":false,"parents":["HP:0032680","HP:0032682"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal non-motor seizure in which awareness is retained throughout the seizure.","id":"HP:0032682","name":"Focal aware non-motor seizure","obsolete":false,"parents":["HP:0002349","HP:0032679"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal non-motor aware seizure"}]} +{"alt_ids":[],"definition":null,"id":"HP:0032683","name":"obsolete Focal aware cognitive seizure with impaired attention","obsolete":true,"parents":[],"replaced_by":["HP:0032681"],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure.","id":"HP:0032684","name":"Focal aware cognitive seizure with auditory agnosia","obsolete":false,"parents":["HP:0032681","HP:0032685"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing.","id":"HP:0032685","name":"Focal cognitive seizure with auditory agnosia","obsolete":false,"parents":["HP:0032680"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure.","id":"HP:0032686","name":"Focal aware cognitive seizure with memory impairment","obsolete":false,"parents":["HP:0032681","HP:0032687"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia).","id":"HP:0032687","name":"Focal cognitive seizure with memory impairment","obsolete":false,"parents":["HP:0032680"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Amnestic aura"},{"scope":"EXACT","text":"Amnestic seizure"}]} +{"alt_ids":[],"definition":"A focal cognitive seizure with dissociation characterized by retained awareness throughout the seizure.","id":"HP:0032688","name":"Focal aware cognitive seizure with dissociation","obsolete":false,"parents":["HP:0032681","HP:0032689"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation.","id":"HP:0032689","name":"Focal cognitive seizure with dissociation","obsolete":false,"parents":["HP:0032680"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure.","id":"HP:0032690","name":"Focal aware cognitive seizure with dyscalculia/acalculia","obsolete":false,"parents":["HP:0032681","HP:0032691"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation.","id":"HP:0032691","name":"Focal cognitive seizure with dyscalculia/acalculia","obsolete":false,"parents":["HP:0032680"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation.","id":"HP:0032692","name":"Focal cognitive seizure with forced thinking","obsolete":false,"parents":["HP:0032680","HP:0033347"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure characterized by neglect as the initial semiological manifestation.","id":"HP:0032693","name":"Focal cognitive seizure with neglect","obsolete":false,"parents":["HP:0032680"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation.","id":"HP:0032694","name":"Focal cognitive seizure with dyslexia/alexia","obsolete":false,"parents":["HP:0032680"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0032695","name":"obsolete Illusory auras","obsolete":true,"parents":[],"replaced_by":["HP:0012008"],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation.","id":"HP:0032696","name":"Focal cognitive seizure with receptive dysphasia/aphasia","obsolete":false,"parents":["HP:0032680"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation.","id":"HP:0032697","name":"obsolete Focal cognitive seizure with deja vu/jamais vu","obsolete":true,"parents":[],"replaced_by":["HP:0012004"],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation.","id":"HP:0032698","name":"Focal cognitive seizure with conduction dysphasia/aphasia","obsolete":false,"parents":["HP:0032680"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation.","id":"HP:0032699","name":"Focal cognitive seizure with dysgraphia/agraphia","obsolete":false,"parents":["HP:0032680"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation.","id":"HP:0032700","name":"Focal cognitive seizure with left-right confusion","obsolete":false,"parents":["HP:0032680"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure characterized by anomia as the initial semiological manifestation.","id":"HP:0032701","name":"Focal cognitive seizure with anomia","obsolete":false,"parents":["HP:0032680"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation.","id":"HP:0032702","name":"Focal cognitive seizure with expressive dysphasia/aphasia","obsolete":false,"parents":["HP:0032680"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0032703","name":"obsolete Hallucinatory aura","obsolete":true,"parents":[],"replaced_by":["HP:0012007"],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure with illusion characterized by retained awareness throughout the seizure.","id":"HP:0032704","name":"Focal aware cognitive seizure with illusion","obsolete":false,"parents":["HP:0012008","HP:0032681"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure.","id":"HP:0032705","name":"Focal aware cognitive seizure with forced thinking","obsolete":false,"parents":["HP:0032681","HP:0032692"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure.","id":"HP:0032706","name":"Focal aware cognitive seizure with left-right confusion","obsolete":false,"parents":["HP:0032681","HP:0032700"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure.","id":"HP:0032707","name":"Focal aware cognitive seizure with dyslexia/alexia","obsolete":false,"parents":["HP:0032681","HP:0032694"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure.","id":"HP:0032708","name":"Focal aware cognitive seizure with anomia","obsolete":false,"parents":["HP:0032681","HP:0032701"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure.","id":"HP:0032709","name":"Focal aware cognitive seizure with dysgraphia/agraphia","obsolete":false,"parents":["HP:0032681","HP:0032699"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure.","id":"HP:0032710","name":"Focal aware cognitive seizure with receptive dysphasia/aphasia","obsolete":false,"parents":["HP:0032681","HP:0032696"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal clonic seizure during which awareness is fully retained throughout.","id":"HP:0032711","name":"Focal aware clonic seizure","obsolete":false,"parents":["HP:0002266","HP:0020217"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal motor seizure in which awareness is partially or fully impaired at some point during the seizure.","id":"HP:0032712","name":"Focal impaired awareness motor seizure","obsolete":false,"parents":["HP:0002384","HP:0011153"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal motor impaired awareness seizure"}]} +{"alt_ids":[],"definition":"A focal motor seizure with version characterized by impaired awareness at some point during the seizure.","id":"HP:0032713","name":"Focal impaired awareness motor seizure with version","obsolete":false,"parents":["HP:0011175","HP:0032712"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal motor impaired awareness seizure with version"}]} +{"alt_ids":[],"definition":"A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure.","id":"HP:0032714","name":"Focal impaired awareness bilateral motor seizure","obsolete":false,"parents":["HP:0032712","HP:0032715"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset.","id":"HP:0032715","name":"Focal bilateral motor seizure","obsolete":false,"parents":["HP:0011153"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal non-motor seizure characterized by impaired awareness at some point during the seizure.","id":"HP:0032716","name":"Focal impaired awareness non-motor seizure","obsolete":false,"parents":["HP:0002384","HP:0032679"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal non-motor impaired awareness seizure"}]} +{"alt_ids":[],"definition":"A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure.","id":"HP:0032717","name":"Focal impaired awareness motor seizure with dystonia","obsolete":false,"parents":["HP:0032712","HP:0032718"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal motor impaired awareness seizure with dystonia"}]} +{"alt_ids":[],"definition":"A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures.","id":"HP:0032718","name":"Focal motor seizure with dystonia","obsolete":false,"parents":["HP:0011153"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure.","id":"HP:0032719","name":"Focal impaired awareness motor seizure with dysarthria/anarthria","obsolete":false,"parents":["HP:0032712","HP:0032720"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal motor impaired awareness seizure with dysarthria/anarthria"}]} +{"alt_ids":[],"definition":"A type of focal motor seizure characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production as the initial semiological manifestation. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible.","id":"HP:0032720","name":"Focal motor seizure with dysarthria/anarthria","obsolete":false,"parents":["HP:0011153"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation.","id":"HP:0032721","name":"Focal motor seizure with paresis/paralysis","obsolete":false,"parents":["HP:0011153"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal tonic seizure during which awareness is fully retained throughout.","id":"HP:0032722","name":"Focal aware tonic seizure","obsolete":false,"parents":["HP:0011167","HP:0020217"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal motor seizure with dystonia characterized by retained awareness throughout the seizure.","id":"HP:0032723","name":"Focal aware motor seizure with dystonia","obsolete":false,"parents":["HP:0020217","HP:0032718"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal motor aware seizure with dystonia"}]} +{"alt_ids":[],"definition":"A focal tonic seizure in which awareness is partially or fully impaired at some point during the seizure.","id":"HP:0032724","name":"Focal impaired awareness tonic seizure","obsolete":false,"parents":["HP:0011167","HP:0032712"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure.","id":"HP:0032725","name":"Focal impaired awareness clonic seizure","obsolete":false,"parents":["HP:0002266","HP:0032712"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal hyperkinetic seizure in which awareness is partially or fully impaired at some point during the seizure.","id":"HP:0032726","name":"Focal impaired awareness hyperkinetic seizure","obsolete":false,"parents":["HP:0011174","HP:0032712"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.","id":"HP:0032727","name":"Focal emotional seizure with agitation","obsolete":false,"parents":["HP:0025613"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal atonic seizure in which awareness is partially or fully impaired at some point during the seizure.","id":"HP:0032728","name":"Focal impaired awareness atonic seizure","obsolete":false,"parents":["HP:0020220","HP:0032712"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy.","id":"HP:0032729","name":"Focal emotional seizure with pleasure","obsolete":false,"parents":["HP:0025613"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal myoclonic seizure in which awareness is partially or fully impaired at some point during the seizure.","id":"HP:0032730","name":"Focal impaired awareness myoclonic seizure","obsolete":false,"parents":["HP:0011166","HP:0032712"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal hypermotor seizure during which awareness is fully retained throughout.","id":"HP:0032731","name":"Focal aware hyperkinetic seizure","obsolete":false,"parents":["HP:0011174","HP:0020217"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure.","id":"HP:0032732","name":"Focal aware motor seizure with paresis/paralysis","obsolete":false,"parents":["HP:0020217","HP:0032721"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal motor aware seizure with paresis/paralysis"}]} +{"alt_ids":[],"definition":"A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure.","id":"HP:0032733","name":"Focal aware motor seizure with dysarthria/anarthria","obsolete":false,"parents":["HP:0020217","HP:0032720"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal motor aware seizure with dysarthria/anarthria"}]} +{"alt_ids":[],"definition":"A focal emotional seizure during which awareness is retained throughout the seizure.","id":"HP:0032734","name":"Focal aware emotional seizure","obsolete":false,"parents":["HP:0025613","HP:0032682"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal emotional seizure with anger in which awareness is retained throughout.","id":"HP:0032735","name":"Focal aware emotional seizure with anger","obsolete":false,"parents":["HP:0032734","HP:0032736"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behavior.","id":"HP:0032736","name":"Focal emotional seizure with anger","obsolete":false,"parents":["HP:0025613"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure.","id":"HP:0032737","name":"Focal emotional seizure with paranoia","obsolete":false,"parents":["HP:0025613"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout.","id":"HP:0032738","name":"Focal aware emotional seizure with fear/anxiety/panic","obsolete":false,"parents":["HP:0032734","HP:0032739"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal emotional seizure with anxiety is characterized by the presence of anxiety, fear or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.","id":"HP:0032739","name":"Focal emotional seizure with fear/anxiety/panic","obsolete":false,"parents":["HP:0025613"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0011156"],"definition":"A focal aware autonomic seizure has an initial manifestation pertaining to autonomic nervous system function, which may be objective (for example, pupillary dilation) or subjective (for example, nausea). As a type of focal aware seizure, awareness is retained throughout.","id":"HP:0032740","name":"Focal aware autonomic seizure","obsolete":false,"parents":["HP:0011154","HP:0032682"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal autonomic seizures without altered responsiveness"},{"scope":"EXACT","text":"Localised autonomic seizures without altered responsiveness"},{"scope":"EXACT","text":"Localized autonomic seizures without altered responsiveness"},{"scope":"EXACT","text":"Partial autonomic seizures without altered responsiveness"}]} +{"alt_ids":[],"definition":"Focal emotional seizure with paranoia in which awareness is retained throughout.","id":"HP:0032741","name":"Focal aware emotional seizure with paranoia","obsolete":false,"parents":["HP:0032734","HP:0032737"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal emotional seizure with pleasure in which awareness is retained throughout.","id":"HP:0032742","name":"Focal aware emotional seizure with pleasure","obsolete":false,"parents":["HP:0032729","HP:0032734"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout.","id":"HP:0032743","name":"Focal aware emotional seizure with crying","obsolete":false,"parents":["HP:0010820","HP:0032734"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal emotional seizure with agitation in which awareness is retained throughout.","id":"HP:0032744","name":"Focal aware emotional seizure with agitation","obsolete":false,"parents":["HP:0032727","HP:0032734"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal emotional seizure with laughing in which awareness is retained throughout.","id":"HP:0032745","name":"Focal aware emotional seizure with laughing","obsolete":false,"parents":["HP:0010821","HP:0032734"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal emotional seizure in which awareness is partially or fully impaired at some point during the seizure.","id":"HP:0032746","name":"Focal impaired awareness emotional seizure","obsolete":false,"parents":["HP:0025613","HP:0032716"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal emotional seizure with pleasure in which awareness is partially or fully impaired at some point during the seizure.","id":"HP:0032747","name":"Focal impaired awareness emotional seizure with pleasure","obsolete":false,"parents":["HP:0032729","HP:0032746"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal emotional seizure with anger in which awareness is partially or fully impaired at some point during the seizure.","id":"HP:0032748","name":"Focal impaired awareness emotional seizure with anger","obsolete":false,"parents":["HP:0032736","HP:0032746"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal emotional seizure with paranoia in which awareness is partially or fully impaired at some point during the seizure.","id":"HP:0032749","name":"Focal impaired awareness emotional seizure with paranoia","obsolete":false,"parents":["HP:0032737","HP:0032746"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure.","id":"HP:0032750","name":"Focal impaired awareness emotional seizure with laughing","obsolete":false,"parents":["HP:0010821","HP:0032746"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure.","id":"HP:0032751","name":"Focal impaired awareness emotional seizure with crying","obsolete":false,"parents":["HP:0010820","HP:0032746"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure.","id":"HP:0032752","name":"Focal impaired awareness emotional seizure with fear/anxiety/panic","obsolete":false,"parents":["HP:0032739","HP:0032746"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal emotional seizure with agitation in which awareness is partially or fully impaired at some point during the seizure.","id":"HP:0032753","name":"Focal impaired awareness emotional seizure with agitation","obsolete":false,"parents":["HP:0032727","HP:0032746"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal sensory seizure during which awareness is retained throughout the seizure.","id":"HP:0032754","name":"Focal aware sensory seizure","obsolete":false,"parents":["HP:0011157","HP:0032682"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0011155"],"definition":"A focal autonomic seizure characterized by impaired awareness at some point within the seizure.","id":"HP:0032755","name":"Focal impaired awareness autonomic seizure","obsolete":false,"parents":["HP:0011154","HP:0032716"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal autonomic seizure with altered responsiveness"},{"scope":"EXACT","text":"Localised autonomic seizure with altered responsiveness"},{"scope":"EXACT","text":"Localized autonomic seizure with altered responsiveness"},{"scope":"EXACT","text":"Partial autonomic seizure with altered responsiveness"}]} +{"alt_ids":["HP:0032875","HP:0032931"],"definition":"A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure.","id":"HP:0032756","name":"Focal impaired awareness cognitive seizure","obsolete":false,"parents":["HP:0032680","HP:0032716"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal hemiclonic seizure in which awareness is retained throughout.","id":"HP:0032757","name":"Focal aware hemiclonic seizure","obsolete":false,"parents":["HP:0006813","HP:0032711"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal myoclonic seizure during which awareness is fully retained throughout.","id":"HP:0032758","name":"Focal aware myoclonic seizure","obsolete":false,"parents":["HP:0011166","HP:0020217"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation.","id":"HP:0032759","name":"Focal sensory seizure with vestibular features","obsolete":false,"parents":["HP:0011157"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal vestibular seizure"},{"scope":"EXACT","text":"Partial vestibular seizure"},{"scope":"EXACT","text":"Vestibular aura"}]} +{"alt_ids":[],"definition":"A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation.","id":"HP:0032760","name":"Focal sensory seizure with hot-cold sensations","obsolete":false,"parents":["HP:0011157"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure.","id":"HP:0032761","name":"Focal aware autonomic seizure with pallor/flushing","obsolete":false,"parents":["HP:0032740","HP:0032762"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature.","id":"HP:0032762","name":"Focal autonomic seizure with pallor/flushing","obsolete":false,"parents":["HP:0011154"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature.","id":"HP:0032763","name":"Focal autonomic seizure with pupillary dilation/constriction","obsolete":false,"parents":["HP:0011154"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal autonomic seizure characterized by penile erection as the initial semiological feature.","id":"HP:0032764","name":"Focal autonomic seizure with erection","obsolete":false,"parents":["HP:0011154"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature.","id":"HP:0032765","name":"Focal autonomic seizure with urge to urinate/defecate","obsolete":false,"parents":["HP:0011154"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature.","id":"HP:0032766","name":"Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration","obsolete":false,"parents":["HP:0011154"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature.","id":"HP:0032767","name":"Focal autonomic seizure with piloerection","obsolete":false,"parents":["HP:0011154"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure.","id":"HP:0032768","name":"Focal aware autonomic seizure with pupillary dilation/constriction","obsolete":false,"parents":["HP:0032740","HP:0032763"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure.","id":"HP:0032769","name":"Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration","obsolete":false,"parents":["HP:0032740","HP:0032766"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal autonomic seizure with erection characterized by retained awareness throughout the seizure.","id":"HP:0032770","name":"Focal aware autonomic seizure with erection","obsolete":false,"parents":["HP:0032740","HP:0032764"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature.","id":"HP:0032771","name":"Focal autonomic seizure with lacrimation","obsolete":false,"parents":["HP:0011154"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure.","id":"HP:0032772","name":"Focal impaired awareness autonomic seizure with piloerection","obsolete":false,"parents":["HP:0032755","HP:0032767"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature.","id":"HP:0032773","name":"Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole","obsolete":false,"parents":["HP:0011154"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure.","id":"HP:0032774","name":"Focal impaired awareness autonomic seizure with urge to urinate/defecate","obsolete":false,"parents":["HP:0032755","HP:0032765"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure.","id":"HP:0032775","name":"Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration","obsolete":false,"parents":["HP:0032755","HP:0032766"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0032776","name":"Focal aware autonomic seizure with lacrimation","obsolete":false,"parents":["HP:0032740","HP:0032771"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure.","id":"HP:0032777","name":"Focal impaired awareness autonomic seizure with pallor/flushing","obsolete":false,"parents":["HP:0032755","HP:0032762"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure.","id":"HP:0032778","name":"Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena","obsolete":false,"parents":["HP:0011159","HP:0032755"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure.","id":"HP:0032779","name":"Focal impaired awareness autonomic seizure with pupillary dilation/constriction","obsolete":false,"parents":["HP:0032755","HP:0032763"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure.","id":"HP:0032780","name":"Focal impaired awareness autonomic seizure with erection","obsolete":false,"parents":["HP:0032755","HP:0032764"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure.","id":"HP:0032781","name":"Focal aware autonomic seizure with urge to urinate/defecate","obsolete":false,"parents":["HP:0032740","HP:0032765"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure.","id":"HP:0032782","name":"Focal impaired awareness autonomic seizure with lacrimation","obsolete":false,"parents":["HP:0032755","HP:0032771"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure.","id":"HP:0032783","name":"Focal aware autonomic seizure with piloerection","obsolete":false,"parents":["HP:0032740","HP:0032767"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure.","id":"HP:0032784","name":"Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole","obsolete":false,"parents":["HP:0032740","HP:0032773"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure.","id":"HP:0032785","name":"Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena","obsolete":false,"parents":["HP:0011159","HP:0032740"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations.","id":"HP:0032786","name":"Migrating focal seizure","obsolete":false,"parents":["HP:0007359"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Migrating partial seizure"}]} +{"alt_ids":[],"definition":"A focal sensory seizure in which awareness is partially or fully impaired at some point during the seizure.","id":"HP:0032787","name":"Focal impaired awareness sensory seizure","obsolete":false,"parents":["HP:0011157","HP:0032716"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure.","id":"HP:0032788","name":"Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole","obsolete":false,"parents":["HP:0032755","HP:0032773"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal behavior arrest seizure characterized by retained awareness throughout the seizure.","id":"HP:0032789","name":"Focal aware behavior arrest seizure","obsolete":false,"parents":["HP:0011173","HP:0032682"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal aware behaviour arrest seizure"}]} +{"alt_ids":[],"definition":"A focal behavior arrest seizure characterized by impaired awareness at some point during the seizure.","id":"HP:0032790","name":"Focal impaired awareness behavior arrest seizure","obsolete":false,"parents":["HP:0011173","HP:0032716"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal impaired awareness behaviour arrest seizure"}]} +{"alt_ids":[],"definition":"A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure.","id":"HP:0032791","name":"Focal impaired awareness cognitive seizure with anomia","obsolete":false,"parents":["HP:0032701","HP:0032756"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.","id":"HP:0032792","name":"Tonic seizure","obsolete":false,"parents":["HP:0020219"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.","id":"HP:0032793","name":"Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia","obsolete":false,"parents":["HP:0032696","HP:0032756"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.","id":"HP:0032794","name":"Myoclonic seizure","obsolete":false,"parents":["HP:0020219"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterized by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus.","id":"HP:0032795","name":"Generalized myoclonic-tonic-clonic seizure","obsolete":false,"parents":["HP:0032677"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised myoclonic-tonic-clonic seizure"},{"scope":"EXACT","text":"Generalised-onset myoclonic-tonic-clonic seizure"},{"scope":"EXACT","text":"Generalized-onset myoclonic-tonic-clonic seizure"},{"scope":"EXACT","text":"generalised onset myoclonic-tonic-clonic seizure"},{"scope":"EXACT","text":"generalized onset myoclonic-tonic-clonic seizure"}]} +{"alt_ids":[],"definition":"A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure.","id":"HP:0032796","name":"Focal impaired awareness cognitive seizure with left-right confusion","obsolete":false,"parents":["HP:0032700","HP:0032756"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant.","id":"HP:0032797","name":"Focal aware sensory seizure with olfactory features","obsolete":false,"parents":["HP:0011161","HP:0032754"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure with neglect characterized by impairment of awareness at some point during the seizure.","id":"HP:0032798","name":"Focal impaired awareness cognitive seizure with neglect","obsolete":false,"parents":["HP:0032693","HP:0032756"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal hemiclonic seizure in which awareness is impaired at some point during the seizure.","id":"HP:0032799","name":"Focal impaired awareness hemiclonic seizure","obsolete":false,"parents":["HP:0006813","HP:0032725"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation.","id":"HP:0032800","name":"Focal aware sensory seizure with vestibular features","obsolete":false,"parents":["HP:0032754","HP:0032759"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure with memory impairment characterized by impairment of awareness at some point during the seizure.","id":"HP:0032801","name":"Focal impaired awareness cognitive seizure with memory impairment","obsolete":false,"parents":["HP:0032687","HP:0032756"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure with dyscalculia / acalculia characterized by impairment of awareness at some point during the seizure.","id":"HP:0032802","name":"Focal impaired awareness cognitive seizure with dyscalculia/acalculia","obsolete":false,"parents":["HP:0032691","HP:0032756"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure.","id":"HP:0032803","name":"Focal impaired awareness cognitive seizure with dysgraphia/agraphia","obsolete":false,"parents":["HP:0032699","HP:0032756"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal sensory seizure with olfaction in which awareness is partially or fully impaired at some point during the seizure.","id":"HP:0032804","name":"Focal impaired awareness sensory seizure with olfactory features","obsolete":false,"parents":["HP:0011161","HP:0032787"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure.","id":"HP:0032805","name":"Focal impaired awareness sensory seizure with vestibular features","obsolete":false,"parents":["HP:0032759","HP:0032787"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal sensory seizure with visual features in which awareness is partially or fully impaired at some point during the seizure.","id":"HP:0032806","name":"Focal impaired awareness sensory seizure with visual features","obsolete":false,"parents":["HP:0011165","HP:0032787"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A seizure occurring within the neonatal period (28 days beyond the full term date).","id":"HP:0032807","name":"Neonatal seizure","obsolete":false,"parents":["HP:0001250"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation.","id":"HP:0032808","name":"Neonatal seizure with electrographic correlate","obsolete":false,"parents":["HP:0032807"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation.","id":"HP:0032809","name":"Neonatal electro-clinical seizure","obsolete":false,"parents":["HP:0032808"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation.","id":"HP:0032810","name":"Focal sensory seizure with cephalic sensation","obsolete":false,"parents":["HP:0011157"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cephalic aura"},{"scope":"EXACT","text":"Focal seizure with cephalic sensation"},{"scope":"EXACT","text":"Partial seizure with cephalic sensation"}]} +{"alt_ids":[],"definition":"Neonatal electrographic only seizure is an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end, which is not associated with a clinical manifestation.","id":"HP:0032811","name":"Neonatal electrographic only seizure","obsolete":false,"parents":["HP:0032808"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0032812","name":"Neonatal electro-clinical non-motor seizure","obsolete":false,"parents":["HP:0032809"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features.","id":"HP:0032813","name":"Neonatal electro-clinical motor seizure","obsolete":false,"parents":["HP:0032809"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Neonatal electro-clinical clonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups; it can be symmetric or asymmetric.","id":"HP:0032814","name":"Neonatal electro-clinical clonic seizure","obsolete":false,"parents":["HP:0032813"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neonatal electroclinical clonic seizure"}]} +{"alt_ids":[],"definition":"Neonatal electro-clinical myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal).","id":"HP:0032815","name":"Neonatal electro-clinical myoclonic seizure","obsolete":false,"parents":["HP:0032813"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neonatal electroclinical myoclonic seizure"}]} +{"alt_ids":[],"definition":"Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at multiple sites.","id":"HP:0032816","name":"Neonatal multifocal myoclonic seizure","obsolete":false,"parents":["HP:0032815"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Neonatal focal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) which occurs focally.","id":"HP:0032817","name":"Neonatal focal myoclonic seizure","obsolete":false,"parents":["HP:0032815"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is unilateral regularly repeating jerking involving the same muscle groups.","id":"HP:0032818","name":"Neonatal focal clonic seizure","obsolete":false,"parents":["HP:0032814"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral.","id":"HP:0032819","name":"Neonatal bilateral clonic seizure","obsolete":false,"parents":["HP:0032814"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites.","id":"HP:0032820","name":"Neonatal multifocal clonic seizure","obsolete":false,"parents":["HP:0032814"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Neonatal electro-clinical tonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a sustained increase in muscle tone, usually focal, that can be unilateral or bilateral, and lasting a few seconds to minutes.","id":"HP:0032821","name":"Neonatal electro-clinical tonic seizure","obsolete":false,"parents":["HP:0032813"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea.","id":"HP:0032822","name":"Neonatal electro-clinical autonomic seizure","obsolete":false,"parents":["HP:0032812"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations.","id":"HP:0032823","name":"Neonatal electro-clinical seizure with behavior arrest","obsolete":false,"parents":["HP:0032812"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neonatal electro-clinical seizure with behaviour arrest"},{"scope":"EXACT","text":"Neonatal electroclinical seizure with behavioral arrest"},{"scope":"EXACT","text":"Neonatal electroclinical seizure with behavioural arrest"}]} +{"alt_ids":[],"definition":"Neonatal focal tonic seizure is a type of neonatal electro-clinical tonic seizure with a focal sustained increase in muscle tone, lasting a few seconds to minutes.","id":"HP:0032824","name":"Neonatal focal tonic seizure","obsolete":false,"parents":["HP:0032821"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic signs, often changing lateralization within or between seizures.","id":"HP:0032825","name":"Neonatal electro-clinical sequential seizure","obsolete":false,"parents":["HP:0032809"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neonatal electroclinical sequential seizure"}]} +{"alt_ids":[],"definition":"Focal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic focal signs, often changing lateralization within or between seizures.","id":"HP:0032826","name":"Focal neonatal sequential seizure","obsolete":false,"parents":["HP:0032825"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Multifocal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic multifocal signs.","id":"HP:0032827","name":"Multifocal neonatal sequential seizure","obsolete":false,"parents":["HP:0032825"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically.","id":"HP:0032828","name":"Neonatal bilateral symmetric tonic seizure","obsolete":false,"parents":["HP:0032821"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, and in association with other features.","id":"HP:0032829","name":"Neonatal electro-clinical motor seizure with automatism","obsolete":false,"parents":["HP:0032813"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neonatal electroclinical motor seizure with automatism"}]} +{"alt_ids":[],"definition":"Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body asymmetrically.","id":"HP:0032830","name":"Neonatal seizure with bilateral asymmetric automatism","obsolete":false,"parents":["HP:0032829"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Neonatal bilateral asymmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body but asymmetrically.","id":"HP:0032831","name":"Neonatal bilateral asymmetric tonic seizure","obsolete":false,"parents":["HP:0032821"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at both sides of the body asymmetrically.","id":"HP:0032832","name":"Neonatal bilateral asymmetric myoclonic seizure","obsolete":false,"parents":["HP:0032815"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: grimacing, head nodding, or subtle eye movements. May occur in clusters.","id":"HP:0032833","name":"Neonatal epileptic spasm","obsolete":false,"parents":["HP:0032813"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, occurring at one side of the body.","id":"HP:0032834","name":"Neonatal seizure with unilateral automatism","obsolete":false,"parents":["HP:0032829"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body symmetrically.","id":"HP:0032835","name":"Neonatal seizure with bilateral symmetric automatism","obsolete":false,"parents":["HP:0032829"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at both sides of the body symmetrically.","id":"HP:0032836","name":"Neonatal bilateral symmetric myoclonic seizure","obsolete":false,"parents":["HP:0032815"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Asymmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting asymmetrically with a variety of clinical and electrographic signs, often changing lateralization within or between seizures.","id":"HP:0032837","name":"Bilateral asymmetric neonatal sequential seizure","obsolete":false,"parents":["HP:0032825"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Neonatal unilateral epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs at one side of the body.","id":"HP:0032838","name":"Neonatal unilateral epileptic spasm","obsolete":false,"parents":["HP:0032833"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs.","id":"HP:0032839","name":"Bilateral symmetric neonatal sequential seizure","obsolete":false,"parents":["HP:0032825"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body.","id":"HP:0032840","name":"Neonatal bilateral symmetric epileptic spasm","obsolete":false,"parents":["HP:0032833"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Neonatal bilateral asymmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs asymmetrically at both sides of the body.","id":"HP:0032841","name":"Neonatal bilateral asymmetric epileptic spasm","obsolete":false,"parents":["HP:0032833"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of epileptic spasm of generalized onset.","id":"HP:0032842","name":"Generalized-onset epileptic spasm","obsolete":false,"parents":["HP:0011097","HP:0032677"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised onset epileptic spasm"},{"scope":"EXACT","text":"Generalised-onset epileptic spasm"},{"scope":"EXACT","text":"Generalized onset epileptic spasm"}]} +{"alt_ids":[],"definition":"A type of epileptic spasm of focal onset.","id":"HP:0032843","name":"Focal-onset epileptic spasm","obsolete":false,"parents":["HP:0011097","HP:0011153"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal onset epileptic spasm"}]} +{"alt_ids":[],"definition":"A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure.","id":"HP:0032844","name":"Focal impaired awareness epileptic spasm","obsolete":false,"parents":["HP:0032712","HP:0032843"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure.","id":"HP:0032845","name":"Focal aware epileptic spasm","obsolete":false,"parents":["HP:0020217","HP:0032843"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure.","id":"HP:0032846","name":"Focal motor seizure with negative myoclonus","obsolete":false,"parents":["HP:0011153"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure.","id":"HP:0032847","name":"Focal impaired awareness hemifacial clonic seizure","obsolete":false,"parents":["HP:0007332","HP:0032725"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure.","id":"HP:0032848","name":"Focal aware cognitive seizure with neglect","obsolete":false,"parents":["HP:0032681","HP:0032693"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit.","id":"HP:0032849","name":"Aphasic status epilepticus","obsolete":false,"parents":["HP:0032673"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure.","id":"HP:0032850","name":"Focal aware cognitive seizure with expressive dysphasia/aphasia","obsolete":false,"parents":["HP:0032681","HP:0032702"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis.","id":"HP:0032851","name":"Focal aware sensory seizure with visual features","obsolete":false,"parents":["HP:0011165","HP:0032754"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.","id":"HP:0032852","name":"Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia","obsolete":false,"parents":["HP:0032698","HP:0032756"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure.","id":"HP:0032853","name":"Focal impaired awareness sensory seizure with hot-cold sensations","obsolete":false,"parents":["HP:0032760","HP:0032787"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout.","id":"HP:0032854","name":"Focal aware hemifacial clonic seizure","obsolete":false,"parents":["HP:0007332","HP:0032711"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light.","id":"HP:0032855","name":"Photosensitive myoclonic-tonic-clonic seizure","obsolete":false,"parents":["HP:0020216","HP:0032795"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Photically induced myoclonic-tonic-clonic seizure"}]} +{"alt_ids":[],"definition":"A type of focal bilateral motor seizure during which awareness is fully retained throughout.","id":"HP:0032856","name":"Focal aware bilateral motor seizure","obsolete":false,"parents":["HP:0020217","HP:0032715"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure.","id":"HP:0032857","name":"Focal aware motor seizure with negative myoclonus","obsolete":false,"parents":["HP:0020217","HP:0032846"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal motor aware seizure with negative myoclonus"}]} +{"alt_ids":[],"definition":"A focal motor seizure with negative myoclonus characterized by impairment of awareness at some point during the seizure.","id":"HP:0032858","name":"Focal impaired awareness motor seizure with negative myoclonus","obsolete":false,"parents":["HP:0032712","HP:0032846"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal motor impaired awareness seizure with negative myoclonus"}]} +{"alt_ids":[],"definition":"A focal motor seizure with paresis / paralysis characterized by impaired awareness at some point during the seizure.","id":"HP:0032859","name":"Focal impaired awareness motor seizure with paresis/paralysis","obsolete":false,"parents":["HP:0032712","HP:0032721"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal motor impaired awareness seizure with paresis/paralysis"}]} +{"alt_ids":[],"definition":"Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure.","id":"HP:0032860","name":"Generalized non-convulsive status epilepticus without coma","obsolete":false,"parents":["HP:0032671"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence status epilepticus"},{"scope":"EXACT","text":"Generalised non-convulsive status epilepticus without coma"},{"scope":"EXACT","text":"Petit mal status epilepticus"}]} +{"alt_ids":[],"definition":"Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired.","id":"HP:0032861","name":"Focal non-convulsive status epilepticus with impairment of consciousness","obsolete":false,"parents":["HP:0032673"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal non-convulsive status epilepticus with impairment of awareness"}]} +{"alt_ids":[],"definition":"A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures.","id":"HP:0032862","name":"Status epilepticus with ictal paresis","obsolete":false,"parents":["HP:0032663"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal inhibitory status epilepticus"}]} +{"alt_ids":[],"definition":"Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure.","id":"HP:0032863","name":"Typical absence status epilepticus","obsolete":false,"parents":["HP:0032860"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Simple absence status epilepticus"}]} +{"alt_ids":[],"definition":"A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure.","id":"HP:0032864","name":"Focal aware sensory seizure with auditory features","obsolete":false,"parents":["HP:0011158","HP:0032754"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG.","id":"HP:0032865","name":"Myoclonic absence status epilepticus","obsolete":false,"parents":["HP:0032860"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges.","id":"HP:0032866","name":"Oculoclonic status epilepticus","obsolete":false,"parents":["HP:0032663"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine.","id":"HP:0032867","name":"Refractory status epilepticus","obsolete":false,"parents":["HP:0002133"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent.","id":"HP:0032868","name":"Super-refractory status epilepticus","obsolete":false,"parents":["HP:0032867"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact.","id":"HP:0032869","name":"Focal non-convulsive status epilepticus without impairment of consciousness","obsolete":false,"parents":["HP:0032673"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aura continua"},{"scope":"EXACT","text":"Focal non-convulsive status epilepticus with retained awareness"},{"scope":"EXACT","text":"Focal non-convulsive status epilepticus without impairment of awareness"}]} +{"alt_ids":[],"definition":"A focal cognitive seizure with dyslexia / alexia characterized by impairment of awareness at some point during the seizure.","id":"HP:0032870","name":"Focal impaired awareness cognitive seizure with dyslexia/alexia","obsolete":false,"parents":["HP:0032694","HP:0032756"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure.","id":"HP:0032871","name":"Focal aware cognitive seizure with hallucination","obsolete":false,"parents":["HP:0012007","HP:0032681"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure with illusion characterized by impairment of awareness at some point during the seizure.","id":"HP:0032872","name":"Focal impaired awareness cognitive seizure with illusion","obsolete":false,"parents":["HP:0012008","HP:0032756"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A seizure characterized by a sensation in the head such as light-headedness or headache.","id":"HP:0032873","name":"Focal aware sensory seizure with cephalic sensation","obsolete":false,"parents":["HP:0032754","HP:0032810"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure.","id":"HP:0032874","name":"Focal impaired awareness cognitive seizure with auditory agnosia","obsolete":false,"parents":["HP:0032685","HP:0032756"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0032875","name":"obsolete Focal impaired awareness cognitive seizure with impaired responsiveness","obsolete":true,"parents":[],"replaced_by":["HP:0032756"],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure with conduction dysphasia / aphasia characterized by retained awareness throughout the seizure.","id":"HP:0032876","name":"Focal aware cognitive seizure with conduction dysphasia/aphasia","obsolete":false,"parents":["HP:0032681","HP:0032698"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A seizure characterized by sensations of feeling hot and then cold.","id":"HP:0032877","name":"Focal aware sensory seizure with hot-cold sensations","obsolete":false,"parents":["HP:0032754","HP:0032760"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal sensory seizure with cephalic sensation in which awareness is partially or fully impaired at some point during the seizure.","id":"HP:0032878","name":"Focal impaired awareness sensory seizure with cephalic sensation","obsolete":false,"parents":["HP:0032787","HP:0032810"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive epileptic seizure with dissociation at the onset of the seizure and with impairment of awareness at at some point during the seizure.","id":"HP:0032879","name":"Focal impaired awareness seizure with dissociation at onset","obsolete":false,"parents":["HP:0032689","HP:0032756"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure.","id":"HP:0032880","name":"Focal impaired awareness sensory seizure with auditory features","obsolete":false,"parents":["HP:0011158","HP:0032787"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0032881","name":"obsolete Focal aware cognitive seizure with impaired responsiveness","obsolete":true,"parents":[],"replaced_by":["HP:0032681"],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure.","id":"HP:0032882","name":"Focal impaired awareness cognitive seizure with deja vu/jamais vu","obsolete":false,"parents":["HP:0012004","HP:0032756"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure.","id":"HP:0032883","name":"Focal aware cognitive seizure with deja vu/jamais vu","obsolete":false,"parents":["HP:0012004","HP:0032681"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. Awareness is retained throughout the seizure.","id":"HP:0032884","name":"Focal aware sensory seizure with somatosensory features","obsolete":false,"parents":["HP:0011163","HP:0032754"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure with hallucination characterized by impairment of awareness at some point during the seizure.","id":"HP:0032885","name":"Focal impaired awareness cognitive seizure with hallucination","obsolete":false,"parents":["HP:0012007","HP:0032756"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.","id":"HP:0032886","name":"Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia","obsolete":false,"parents":["HP:0032702","HP:0032756"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature.","id":"HP:0032887","name":"Generalized atonic seizure","obsolete":false,"parents":["HP:0010819","HP:0032677"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised atonic seizure"}]} +{"alt_ids":[],"definition":"A focal cognitive seizure with forced thinking characterized by impairment of awareness at some point during the seizure.","id":"HP:0032888","name":"Focal impaired awareness cognitive seizure with forced thinking","obsolete":false,"parents":["HP:0032692","HP:0032756"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes.","id":"HP:0032889","name":"Focal aware sensory seizure with gustatory features","obsolete":false,"parents":["HP:0011160","HP:0032754"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal sensory seizure with somatosensory features in which awareness is partially or fully impaired at some point during the seizure.","id":"HP:0032890","name":"Focal impaired awareness sensory seizure with somatosensory features","obsolete":false,"parents":["HP:0011163","HP:0032787"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal motor seizure with version characterized by retained awareness throughout the seizure.","id":"HP:0032891","name":"Focal aware motor seizure with version","obsolete":false,"parents":["HP:0011175","HP:0020217"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal motor aware seizure with version"}]} +{"alt_ids":[],"definition":"Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever.","id":"HP:0032892","name":"Infection-related seizure","obsolete":false,"parents":["HP:0001250"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause.","id":"HP:0032893","name":"Gastroenteritis-related afebrile seizure","obsolete":false,"parents":["HP:0032892"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age.","id":"HP:0032894","name":"Seizure precipitated by febrile infection","obsolete":false,"parents":["HP:0032892"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fever induced seizure"}]} +{"alt_ids":[],"definition":"Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure.","id":"HP:0032895","name":"Febrile seizure outside the age of 3 months to 6 years","obsolete":false,"parents":["HP:0032894"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Seizure precipitated by listening to music or other complex sounds.","id":"HP:0032896","name":"Music-induced seizure","obsolete":false,"parents":["HP:0020207"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure.","id":"HP:0032897","name":"Focal impaired awareness sensory seizure with gustatory features","obsolete":false,"parents":["HP:0011160","HP:0032787"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity.","id":"HP:0032898","name":"Focal automatism seizure","obsolete":false,"parents":["HP:0011153"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism seizure characterized by orofacial automatisms at onset.","id":"HP:0032899","name":"Focal orofacial automatism seizure","obsolete":false,"parents":["HP:0032898"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism seizure characterized by manual automatisms at onset.","id":"HP:0032900","name":"Focal manual automatism seizure","obsolete":false,"parents":["HP:0032898"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.","id":"HP:0032901","name":"Focal pedal automatism seizure","obsolete":false,"parents":["HP:0032898"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset.","id":"HP:0032902","name":"Focal perseverative automatism seizure","obsolete":false,"parents":["HP:0032898"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.","id":"HP:0032903","name":"Focal vocal automatism seizure","obsolete":false,"parents":["HP:0032898"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset.","id":"HP:0032904","name":"Focal verbal automatism seizure","obsolete":false,"parents":["HP:0032898"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism seizure characterized by involuntary sexual behavior at onset.","id":"HP:0032905","name":"Focal sexual automatism seizure","obsolete":false,"parents":["HP:0032898"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism seizure characterized by involuntary head nodding at onset.","id":"HP:0032906","name":"Focal head nodding automatism seizure","obsolete":false,"parents":["HP:0032898"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism seizure characterized by involuntary undressing at onset.","id":"HP:0032907","name":"Focal undressing automatism seizure","obsolete":false,"parents":["HP:0032898"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism seizure characterized by involuntary undressing at onset and during which awareness is fully retained throughout.","id":"HP:0032908","name":"Focal aware undressing automatism seizure","obsolete":false,"parents":["HP:0032907","HP:0032910"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A focal seizure with automatism in which awareness is partially or fully impaired at some point during the seizure.","id":"HP:0032909","name":"Focal impaired awareness automatism seizure","obsolete":false,"parents":["HP:0032712","HP:0032898"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism seizure during which awareness is fully retained throughout.","id":"HP:0032910","name":"Focal aware automatism seizure","obsolete":false,"parents":["HP:0020217","HP:0032898"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism seizure characterized by orofacial automatisms at onset and during which awareness is fully retained throughout.","id":"HP:0032911","name":"Focal aware orofacial automatism seizure","obsolete":false,"parents":["HP:0032899","HP:0032910"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism seizure characterized by manual automatisms at onset and during which awareness is fully retained throughout.","id":"HP:0032912","name":"Focal aware manual automatism seizure","obsolete":false,"parents":["HP:0032900","HP:0032910"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset and during which awareness is fully retained throughout. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.","id":"HP:0032913","name":"Focal aware pedal automatism seizure","obsolete":false,"parents":["HP:0032901","HP:0032910"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset and during which awareness is fully retained throughout.","id":"HP:0032914","name":"Focal aware perseverative automatism seizure","obsolete":false,"parents":["HP:0032902","HP:0032910"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout.","id":"HP:0032915","name":"Focal aware vocal automatism seizure","obsolete":false,"parents":["HP:0032903","HP:0032910"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset and during which awareness is fully retained throughout.","id":"HP:0032916","name":"Focal aware verbal automatism seizure","obsolete":false,"parents":["HP:0032904","HP:0032910"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism seizure characterized by involuntary sexual behavior at onset and during which awareness is fully retained throughout.","id":"HP:0032917","name":"Focal aware sexual automatism seizure","obsolete":false,"parents":["HP:0032905","HP:0032910"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by orofacial automatisms at onset.","id":"HP:0032918","name":"Focal impaired awareness orofacial automatism seizure","obsolete":false,"parents":["HP:0032899","HP:0032909"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout.","id":"HP:0032919","name":"Focal aware head nodding automatism seizure","obsolete":false,"parents":["HP:0032906","HP:0032910"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by manual automatisms at onset.","id":"HP:0032920","name":"Focal impaired awareness manual automatism seizure","obsolete":false,"parents":["HP:0032900","HP:0032909"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.","id":"HP:0032921","name":"Focal impaired awareness pedal automatism seizure","obsolete":false,"parents":["HP:0032901","HP:0032909"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by inappropriate continuation of pre-seizure movement or behavior at onset.","id":"HP:0032922","name":"Focal impaired awareness perseverative automatism seizure","obsolete":false,"parents":["HP:0032902","HP:0032909"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.","id":"HP:0032923","name":"Focal impaired awareness vocal automatism seizure","obsolete":false,"parents":["HP:0032903","HP:0032909"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive words, phrases, or brief sentences at onset.","id":"HP:0032924","name":"Focal impaired awareness verbal automatism seizure","obsolete":false,"parents":["HP:0032904","HP:0032909"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by involuntary sexual behavior at onset.","id":"HP:0032925","name":"Focal impaired awareness sexual automatism seizure","obsolete":false,"parents":["HP:0032905","HP:0032909"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary head nodding at onset.","id":"HP:0032926","name":"Focal impaired awareness head nodding automatism seizure","obsolete":false,"parents":["HP:0032906","HP:0032909"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary undressing at onset.","id":"HP:0032927","name":"Focal impaired awareness undressing automatism seizure","obsolete":false,"parents":["HP:0032907","HP:0032909"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large caliber myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases.","id":"HP:0032928","name":"Elevated CSF neurofilament light chain concentration","obsolete":false,"parents":["HP:0025456"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated CSF neurofilament light chain"}]} +{"alt_ids":[],"definition":"Any abnormal structure of a chondrocyte, which is a polymorphic cell that forms cartilage.","id":"HP:0032929","name":"Abnormal chondrocyte morphology","obsolete":false,"parents":["HP:0002763"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentric rings around the chondrocytes.","id":"HP:0032930","name":"Lacunar halos around chondrocytes","obsolete":false,"parents":["HP:0032929"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0032931","name":"obsolete Focal impaired awareness cognitive seizure with impaired attention","obsolete":true,"parents":[],"replaced_by":["HP:0032756"],"synonyms":[]} +{"alt_ids":[],"definition":"An increased level of triacylglycerol lipase in the blood circulation (can be measured in serum or plasma).","id":"HP:0032932","name":"Increased circulating pancreatic triacylglycerol lipase level","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating pancreatic triacylglycerol lipase activity"}]} +{"alt_ids":[],"definition":"An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist.","id":"HP:0032933","name":"Airway hyperresponsiveness","obsolete":false,"parents":["HP:0002795"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak).","id":"HP:0032934","name":"Spontaneous cerebrospinal fluid leak","obsolete":false,"parents":["HP:0010651"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin.","id":"HP:0032935","name":"Posterior crocodile shagreen of the cornea","obsolete":false,"parents":["HP:0007881"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Unintentional re-experiencing of a traumatic event involves symptoms that typically include sensory impressions and emotional responses stemming from the trauma. These symptoms seem to lack a sense of time perspective and context.","id":"HP:0032936","name":"Intrusion symptom","obsolete":false,"parents":["HP:5200230"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Re-experiencing symptom"}]} +{"alt_ids":[],"definition":"After experiencing psychological trauma, individuals may repeatedly encounter sensory-perceptual impressions of the event that intrude into their consciousness involuntarily. These intrusive memories often manifest as visual images (such as mental pictures), but can also involve sounds, smells, tastes, and physical sensations. They are accompanied by a variety of negative emotions linked to the most intense moments of the traumatic memory.","id":"HP:0032937","name":"Intrusive mental imagery","obsolete":false,"parents":["HP:0025792","HP:0032936"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent, involuntary, and intrusive distressing memories"}]} +{"alt_ids":[],"definition":"Recurrent distressing dreams occur when the content and/or emotional impact of the dream is connected to a traumatic event or events.","id":"HP:0032938","name":"Recurrent trauma-related distressing dreams","obsolete":false,"parents":["HP:0032936"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s).","id":"HP:0032939","name":"Physiological reactivity to cues","obsolete":false,"parents":["HP:0032936"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Disruption or detachment of certain aspects of one's normal psychological functioning typically involves a disconnection or separation from thoughts, feelings, sensations, memories, or one's sense of identity or reality.","id":"HP:0032940","name":"Dissociation","obsolete":false,"parents":["HP:5200216"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dissociative reaction"}]} +{"alt_ids":[],"definition":"Intense or prolonged psychological distress occurs when individuals are exposed to internal or external cues that symbolize or resemble an aspect of the traumatic event or events.","id":"HP:0032941","name":"Intense psychological distress to cues","obsolete":false,"parents":["HP:0032936"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Avoidance of or efforts to avoid distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). Avoidance of or efforts to avoid external reminders (people, places, conversations, activities, objects, situations) that arouse distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s).","id":"HP:0032942","name":"Avoidance of stimuli associated with traumatic event","obsolete":false,"parents":["HP:0100852"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation of urine pH from the normal range of 4.5 to 7.8.","id":"HP:0032943","name":"Abnormal urine pH","obsolete":false,"parents":["HP:0003110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Urine pH of 8 or higher.","id":"HP:0032944","name":"Alkaline urine","obsolete":false,"parents":["HP:0032943"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells.","id":"HP:0032945","name":"Renal interstitial inflammation","obsolete":false,"parents":["HP:0032581"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells.","id":"HP:0032946","name":"Renal cortical interstitial inflammation","obsolete":false,"parents":["HP:0032945"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells.","id":"HP:0032947","name":"Renal medullary interstitial inflammation","obsolete":false,"parents":["HP:0032945"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic.","id":"HP:0032948","name":"Renal interstitial fibrosis","obsolete":false,"parents":["HP:0032581"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits.","id":"HP:0032949","name":"Renal interstitial calcium phosphate deposits","obsolete":false,"parents":["HP:0032644"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal structure or form of the lumen (opening) of kidney tubules.","id":"HP:0032950","name":"Abnormal renal tubular lumen morphology","obsolete":false,"parents":["HP:0000091"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal renal tubular luminal morphology"}]} +{"alt_ids":[],"definition":"Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells.","id":"HP:0032951","name":"Renal tubular viral cytopathic changes","obsolete":false,"parents":["HP:0000091"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis.","id":"HP:0032952","name":"Usual-type tubular atrophy","obsolete":false,"parents":["HP:0000092"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Common-type renal tubular atrophy"}]} +{"alt_ids":[],"definition":"Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages.","id":"HP:0032953","name":"Renal tubular cytomegalovirus inclusions","obsolete":false,"parents":["HP:0032951"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage.","id":"HP:0032954","name":"Renal tubular adenovirus inclusions","obsolete":false,"parents":["HP:0032951"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Renal tubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection.","id":"HP:0032955","name":"Renal tubular polyoma virus inclusions","obsolete":false,"parents":["HP:0032951"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis.","id":"HP:0032956","name":"Renal tubular herpes simplex virus inclusions","obsolete":false,"parents":["HP:0032951"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria.","id":"HP:0032957","name":"Dysmorphic hematuria","obsolete":false,"parents":["HP:0000790"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acanthocyturia"}]} +{"alt_ids":[],"definition":"The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets.","id":"HP:0032958","name":"Urinary oval fat bodies","obsolete":false,"parents":["HP:0012614"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney.","id":"HP:0032959","name":"Intratubular calcium oxalate casts","obsolete":false,"parents":["HP:0008672","HP:0032623"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney.","id":"HP:0032960","name":"Intratubular calcium phosphate casts","obsolete":false,"parents":["HP:0032623"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Magnesium ammonium phosphate crystals in the urine.","id":"HP:0032961","name":"Magnesium ammonium phosphate crystalluria","obsolete":false,"parents":["HP:0020074"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Struvite urinary crystals"}]} +{"alt_ids":[],"definition":"Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border.","id":"HP:0032962","name":"Tubular microcystic change","obsolete":false,"parents":["HP:0032950"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A renal cyst characterized by epithelium lined space (squamous/columnar) with septations.","id":"HP:0032963","name":"Complex renal cyst","obsolete":false,"parents":["HP:0000107"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of uric acid crystals in the urine.","id":"HP:0032964","name":"Uric acid crystalluria","obsolete":false,"parents":["HP:0020074"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Interstitial emphysema is characterized by air dissecting within the interstitium of the lung, typically in the peribronchovascular sheaths, interlobular septa, and visceral pleura. It is most commonly seen in neonates receiving mechanical ventilation. It is rarely recognized radiographically in adults and is infrequently seen on CT scans. It appears as perivascular lucent or low attenuating halos and small cysts.","id":"HP:0032965","name":"Interstitial emphysema","obsolete":false,"parents":["HP:0002097"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones.","id":"HP:0032966","name":"Centrilobular emphysema","obsolete":false,"parents":["HP:0002097"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Centriacinar emphysema"}]} +{"alt_ids":[],"definition":"Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis.","id":"HP:0032967","name":"Panacinar emphysema","obsolete":false,"parents":["HP:0002097"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal retention of gas within a lung or part of a lung, as a result of airway obstruction of abnormalities in lung compliance. In the classic presentation, the lung will appear normal at inspiration, but on exhalation, the diseased portions of the lung which have lost connective tissue recoil will remain lucent while the healthy portions of the lung will become more dense due to atelectasis. This helps distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark imaging diagnosis of interstitial lung disease) in which there is no change with inspiration and expiration.","id":"HP:0032968","name":"Expiratory air trapping","obsolete":false,"parents":["HP:0031983"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Distortion of the bronchial airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchial dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as cysts.","id":"HP:0032969","name":"Traction bronchiectasis","obsolete":false,"parents":["HP:0025426"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0032970","name":"Traction bronchiolectasis","obsolete":false,"parents":["HP:0025426"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"CT finding of ground-glass opacity surrounding a nodule or mass. It was first described as a sign of hemorrhage around foci of invasive aspergillosis. The halo sign is nonspecific and may also be caused by hemorrhage associated with other types of nodules or by local pulmonary infiltration by neoplasm.","id":"HP:0032971","name":"Computed tomographic halo sign","obsolete":false,"parents":["HP:0025179"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CT halo sign"}]} +{"alt_ids":[],"definition":"A nodular pattern on pulmonary high-resolution computed tomography which are anatomically located centrally within secondary pulmonary lobules. Centrilobular nodules may be dense (i.e., solid) and of homogeneous opacity or ground-glass opacity, and may range from a few millimeters to about 1 cm in size. Because of the similar size of secondary lobules, centrilobular nodules often appear to be evenly spaced. Centrilobular nodules are usually separated from the pleural surfaces, fissures, and interlobular septa by a distance of at least several millimeters. They may appear patchy or diffuse in different diseases.","id":"HP:0032972","name":"Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT","obsolete":false,"parents":["HP:0025392"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions.","id":"HP:0032973","name":"Abnormal bronchoalveolar lavage fluid morphology","obsolete":false,"parents":["HP:0002088"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deviation from the commonly in healthy people observe cellular distribution. Normal ranges are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%.","id":"HP:0032974","name":"Abnormal cellular composition of bronchoalveolar fluid","obsolete":false,"parents":["HP:0032973"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal cell differential of broncho-alveolar fluid"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of protein in the bronchoalveolar fluid.","id":"HP:0032975","name":"Abnormal bronchoalveolar fluid protein level","obsolete":false,"parents":["HP:0032973"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal biochemical composition of broncho-alveolar fluid"},{"scope":"EXACT","text":"Abnormal level of proteins in the broncho-alveolar fluid"}]} +{"alt_ids":[],"definition":"Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases.","id":"HP:0032976","name":"Elevated bronchoalveolar lavage fluid lymphocyte proportion","obsolete":false,"parents":["HP:0032974"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases.","id":"HP:0032977","name":"Elevated bronchoalveolar lavage fluid neutrophil proportion","obsolete":false,"parents":["HP:0032974"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated level of neutrophils in broncho-alveolar lavage fluid"}]} +{"alt_ids":[],"definition":"Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions.","id":"HP:0032978","name":"Lipid-laden macrophages in bronchoalveolar fluid","obsolete":false,"parents":["HP:0032984"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP).","id":"HP:0032979","name":"Hemosiderin-laden macrophages in bronchoalveolar fluid","obsolete":false,"parents":["HP:0032984"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Accumulation of hemosiderin laden alveolar macrophages"},{"scope":"EXACT","text":"Siderophages in bronchoalveolar fluid"}]} +{"alt_ids":[],"definition":"Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseases, pathogenetically related to the alveolar surfactant region.","id":"HP:0032980","name":"Absent bronchoalveolar surfactant-protein C","obsolete":false,"parents":["HP:0032975"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid.","id":"HP:0032981","name":"Absent bronchoalveolar dimeric surfactant-protein B","obsolete":false,"parents":["HP:0032975"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0032982","name":"obsolete Intraalveolar phospholipid accumulation","obsolete":true,"parents":[],"replaced_by":["HP:0006517"],"synonyms":[]} +{"alt_ids":[],"definition":"CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thickness. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis.","id":"HP:0032983","name":"Atoll sign","obsolete":false,"parents":["HP:0025179"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reversed halo sign"}]} +{"alt_ids":[],"definition":"Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles.","id":"HP:0032984","name":"Abnormal alveolar macrophage morphology","obsolete":false,"parents":["HP:0032974"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of inhaled, nondigestable particles in macrophages.","id":"HP:0032985","name":"Dust particle inclusion in alveolar macrophages","obsolete":false,"parents":["HP:0032984"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"In otherwise healthy smokers, characteristic so called smoker-inclusion can be found within the macrophages in the bronchoalveolar fluid. These blue/ black/ round/ oval cytoplasmic inclusions consist of pigmented lipid deposits.","id":"HP:0032986","name":"Smoker-inclusions in alveolar macrophages","obsolete":false,"parents":["HP:0032984"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced.","id":"HP:0032987","name":"Elevated bronchoalveolar lavage fluid eosinophil proportion","obsolete":false,"parents":["HP:0032974"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes.","id":"HP:0032988","name":"Persistent head lag","obsolete":false,"parents":["HP:0001270"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Head lag"},{"scope":"EXACT","text":"Headlag"}]} +{"alt_ids":[],"definition":"Delayed achievement of the ability to roll front to back and back to front.","id":"HP:0032989","name":"Delayed ability to roll over","obsolete":false,"parents":["HP:0002194"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Circumscribed pulmonary hemorrhage originating from a single bleeding site in the lungs. This can be due to infections, tumorigenesis, foreign bodies, or vascular abnormalities. Patient often feel the site of bleeding, contrast CT scan or angiography may localize the bleeder.","id":"HP:0032990","name":"Localized pulmonary hemorrhage","obsolete":false,"parents":["HP:0040223"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Localised pulmonary haemorrhage"}]} +{"alt_ids":[],"definition":"An abnormal form or number of the pulmonary fissures.","id":"HP:0032991","name":"Abnormal pulmonary fissure morphology","obsolete":false,"parents":["HP:0002103","HP:4000059"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal form or location of a pulmonary fissure.","id":"HP:0032992","name":"Abnormal pulmonary fissure architecture","obsolete":false,"parents":["HP:0032991"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal number of pulmonary fissures.","id":"HP:0032993","name":"Abnormal pulmonary fissure count","obsolete":false,"parents":["HP:0032991"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of a lung fissure that does not exist normally. Supernumerary fissures include the superior accessory fissure, the medial basal fissure, the left horizontal fissure, and the azygos fissure form supernumerary lobes.","id":"HP:0032994","name":"Supernumerary pulmonary fissure","obsolete":false,"parents":["HP:0032993"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"increased pulmonary fissure count"}]} +{"alt_ids":[],"definition":"Lack of one or more of the normal pulmonary fissures.","id":"HP:0032995","name":"Decreased pulmonary fissure count","obsolete":false,"parents":["HP:0032993"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced pulmonary fissure count"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of cystatin-C in the blood circulation.","id":"HP:0032996","name":"Abnormal circulating cystatin-C concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal cystatin-C level"}]} +{"alt_ids":[],"definition":"The concentration of cystatin-C in the blood circulation is below the lower limit of normal.","id":"HP:0032997","name":"Decreased circulating cystatin-C concentration","obsolete":false,"parents":["HP:0032996"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased cystatin C level"},{"scope":"EXACT","text":"Decreased cystatin-C concentration"},{"scope":"EXACT","text":"Decreased cystatin-C level"},{"scope":"EXACT","text":"Decreased cystatin-C level in blood"},{"scope":"EXACT","text":"Reduced cystatin-C concentration"},{"scope":"EXACT","text":"Reduced cystatin-C level"},{"scope":"EXACT","text":"Reduced cystatin-C level in blood"}]} +{"alt_ids":[],"definition":"The concentration of cystatin-C in the blood circulation is above the upper limit of normal.","id":"HP:0032998","name":"Elevated circulating cystatin-C concentration","obsolete":false,"parents":["HP:0032996"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated cystatin-C concentration"},{"scope":"EXACT","text":"Elevated cystatin-C level"},{"scope":"EXACT","text":"Elevated cystatin-C level in blood"},{"scope":"EXACT","text":"Increased cystatin-C concentration"},{"scope":"EXACT","text":"Increased cystatin-C level"},{"scope":"EXACT","text":"Increased cystatin-C level in blood"}]} +{"alt_ids":[],"definition":"Abnormally high concentration of fecal porphyrins in feces.","id":"HP:0032999","name":"Increased fecal porphyrin","obsolete":false,"parents":["HP:0031685"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased faecal porphyrin"}]} +{"alt_ids":[],"definition":"Narrowing of the larynx, commonly occurring during viral respiratory tract infections, in particular in children, leads to symptoms such as hoarseness, a barking cough, stridor, and sometimes dyspnea and respiratory failure.","id":"HP:0033000","name":"Subglottic laryngitis","obsolete":false,"parents":["HP:0025423"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Croup"},{"scope":"EXACT","text":"Laryngitis"},{"scope":"EXACT","text":"Pseudocroup"},{"scope":"EXACT","text":"Spasmodic croup"},{"scope":"EXACT","text":"Viral croup"}]} +{"alt_ids":[],"definition":"A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the larynx.","id":"HP:0033001","name":"Laryngeal papilloma","obsolete":false,"parents":["HP:0100605"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Laryngeal papillomas"},{"scope":"EXACT","text":"Laryngeal papillomatosis"}]} +{"alt_ids":[],"definition":"A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on a bronchus.","id":"HP:0033002","name":"Bronchial papilloma","obsolete":false,"parents":["HP:0030077"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea.","id":"HP:0033003","name":"Tracheal papilloma","obsolete":false,"parents":["HP:0100551"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by human papillomavirus (HPV).","id":"HP:0033004","name":"Palmar warts","obsolete":false,"parents":["HP:0040211"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Multiple verrucous lesions on the skin of the sole of the foot. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV).","id":"HP:0033005","name":"Plantar warts","obsolete":false,"parents":["HP:0100872"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Diffuse alveolar damage (DAD) describes a common histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis, and crack cocaine inhalation.","id":"HP:0033006","name":"Diffuse alveolar damage","obsolete":false,"parents":["HP:0033137"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Architectural distortion is characterized by abnormal displacement of bronchi, vessels, fissures, or septa caused by diffuse or localized lung disease, particularly interstitial fibrosis. This is visible in lung biopsy and CT scans in a distorted appearance and is usually associated with pulmonary fibrosis and accompanied by volume loss.","id":"HP:0033007","name":"Architectural distortion of the lung","obsolete":false,"parents":["HP:0002088"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005).","id":"HP:0033008","name":"Increased Z-disc width","obsolete":false,"parents":["HP:0020202"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased Z-disk width"},{"scope":"EXACT","text":"Widened z-discs"}]} +{"alt_ids":[],"definition":"Abnormally high concentration of coproporphyrin 1 in feces.","id":"HP:0033009","name":"Increased fecal coproporphyrin 1","obsolete":false,"parents":["HP:0032999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated faecal coproporphyrin 1"},{"scope":"EXACT","text":"Elevated fecal coproporphyrin 1"},{"scope":"EXACT","text":"Elevated stool coproporphyrin 1"},{"scope":"EXACT","text":"High faecal coproporphyrin 1"},{"scope":"EXACT","text":"High fecal coproporphyrin 1"},{"scope":"EXACT","text":"High stool coproporphyrin 1"},{"scope":"EXACT","text":"Increased faecal coproporphyrin 1"}]} +{"alt_ids":[],"definition":"Abnormally high concentration of coproporphyrin 3 in feces","id":"HP:0033010","name":"Increased fecal coproporphyrin 3","obsolete":false,"parents":["HP:0032999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated faecal coproporphyrin 3"},{"scope":"EXACT","text":"Elevated fecal coproporphyrin 3"},{"scope":"EXACT","text":"Elevated stool coproporphyrin 3"},{"scope":"EXACT","text":"High faecal coproporphyrin 3"},{"scope":"EXACT","text":"High fecal coproporphyrin 3"},{"scope":"EXACT","text":"High stool coproporphyrin 3"},{"scope":"EXACT","text":"Increased faecal coproporphyrin 3"}]} +{"alt_ids":[],"definition":"Extreme width of the skull in the occipital region, with anterior narrowing and prognathism.","id":"HP:0033011","name":"Platystencephaly","obsolete":false,"parents":["HP:0002683"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of a metabolite in saliva.","id":"HP:0033012","name":"Abnormal salivary metabolite concentration","obsolete":false,"parents":["HP:0001939"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of cortisol in saliva.","id":"HP:0033013","name":"Abnormal salivary cortisol level","obsolete":false,"parents":["HP:0033012"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally reduced concentration of cortisol in saliva.","id":"HP:0033014","name":"Decreased salivary cortisol level","obsolete":false,"parents":["HP:0033013"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally elevated concentration of cortisol in saliva.","id":"HP:0033015","name":"Increased salivary cortisol level","obsolete":false,"parents":["HP:0033013"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A lasting reduction beneath the normal level of total immunoglobulin D (IgD) in the blood.","id":"HP:0033016","name":"Chronic decreased circulating IgD concentration","obsolete":false,"parents":["HP:0410245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic decreased IgM in blood"}]} +{"alt_ids":[],"definition":"A temporary reduction beneath the normal level of total immunoglobulin D (IgD) in the blood circulation.","id":"HP:0033017","name":"Transient decreased circulating IgD concentration","obsolete":false,"parents":["HP:0410245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Transient decreased IgD in blood"}]} +{"alt_ids":[],"definition":"A lasting absence of immunoglobulin D (IgD) in the blood, whereby at most trace quantities of IgD can be measured.","id":"HP:0033018","name":"Chronic absent circulating IgD","obsolete":false,"parents":["HP:0410245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic (near) absent IgM in blood"}]} +{"alt_ids":[],"definition":"A neoplasm that affects the male reproductive system.","id":"HP:0033019","name":"Male reproductive system neoplasm","obsolete":false,"parents":["HP:0010787"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A neoplasm that affects the female reproductive system.","id":"HP:0033020","name":"Female reproductive system neoplasm","obsolete":false,"parents":["HP:0010787"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A temporary reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.","id":"HP:0033021","name":"Transient decreased circulating IgE concentration","obsolete":false,"parents":["HP:0005479"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Transient decreased IgE in blood"},{"scope":"EXACT","text":"Transient decreased circulating IgE"}]} +{"alt_ids":[],"definition":"A lasting reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.","id":"HP:0033022","name":"Chronic decreased circulating IgE concentration","obsolete":false,"parents":["HP:0005479"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic decreased IgE in blood"},{"scope":"EXACT","text":"Chronic decreased circulating IgE"}]} +{"alt_ids":[],"definition":"A lasting absence of immunoglobulin E (IgE) in the blood circulation, whereby at most trace quantities of IgE can be measured.","id":"HP:0033023","name":"Chronic absent circulating IgE","obsolete":false,"parents":["HP:0005479"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic (near) absent IgE in blood"}]} +{"alt_ids":[],"definition":"A temporary reduction beneath the normal level of total immunoglobulin A (IgA) in the blood circulation.","id":"HP:0033024","name":"Transient decreased circulating IgA concentration","obsolete":false,"parents":["HP:0002720"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A lasting absence of immunoglobulin G (IgG) in the blood, whereby at most trace quantities of IgG can be measured.","id":"HP:0033025","name":"Chronic absent circulating total IgG","obsolete":false,"parents":["HP:0032132"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic (near) absent total IgG in blood"}]} +{"alt_ids":[],"definition":"A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed.","id":"HP:0033026","name":"White oral mucosal macule","obsolete":false,"parents":["HP:0100669"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A pebbly orange appearance of the fundus that is said to resemble the skin of an orange.","id":"HP:0033027","name":"Retinal peau d'orange","obsolete":false,"parents":["HP:0000479"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP.","id":"HP:0033028","name":"Anti-U1 ribonucleoprotein antibody positivity","obsolete":false,"parents":["HP:0033476"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-RNP-antibodies"},{"scope":"NARROW","text":"Anti-Scl-34 antibody positivity"},{"scope":"EXACT","text":"Anti-U1-RNP antibody positivity"},{"scope":"NARROW","text":"Anti-U3 ribonucleoprotein antibody positivity"}]} +{"alt_ids":[],"definition":null,"id":"HP:0033029","name":"obsolete Anti-Jo-1 antibody positivity","obsolete":true,"parents":[],"replaced_by":["HP:0034152"],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the serum that react to the glomerular basement membrane.","id":"HP:0033030","name":"Anti-glomerular basement membrane-antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-GBM-antibody positivity"}]} +{"alt_ids":[],"definition":"An extreme elevation of core body temperature above normal defined as a rectal temperature of 41.1 degrees Celsius (106 degrees Fahrenheit).","id":"HP:0033031","name":"Hyperpyrexia","obsolete":false,"parents":["HP:0001945"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is induced by an abusive adult (usually a parent).","id":"HP:0033032","name":"Triggered by an abusive adult","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Munchausen syndrome by proxy"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the serum that react to Anti-MDA5 (Anti-melanoma differentiation-associated proteine 5).","id":"HP:0033033","name":"Anti-MDA5 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased level of anti-melanoma differentiation-associated protein 5 antibodies"}]} +{"alt_ids":[],"definition":"The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen.","id":"HP:0033034","name":"Anti-citrullinated protein antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormality of schwann cells, glial cells that ensheath axons of neurons in the peripheral nervous system and are necessary for their maintenance and function.","id":"HP:0033035","name":"Abnormal Schwann cell morphology","obsolete":false,"parents":["HP:0100705"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal neurilemmal cell morphology"},{"scope":"EXACT","text":"Abnormal neurilemmocyte morphology"}]} +{"alt_ids":[],"definition":"Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure.","id":"HP:0033036","name":"Decreased nasal nitric oxide","obsolete":false,"parents":["HP:0002795"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low nasal nitric oxide level"}]} +{"alt_ids":[],"definition":null,"id":"HP:0033037","name":"Migratory arthritis","obsolete":false,"parents":["HP:0001369"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Migratory polyarthritis"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the serum that react to RNA-polymerase III.","id":"HP:0033038","name":"Anti-RNA-polymerase-III-autoantibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration (titer) of antigen-precipitating IgG in the blood circulation is above the upper limit of normal.","id":"HP:0033039","name":"Increased circulating precipitin concentration","obsolete":false,"parents":["HP:0012224"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased level of antigen-precipitating IgG antibodies"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles.","id":"HP:0033040","name":"Anti-Sm antibody positivity","obsolete":false,"parents":["HP:0033476"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-Smith autoantibody"}]} +{"alt_ids":[],"definition":"Excessive or uncontrolled release of proinflammatory cytokines.","id":"HP:0033041","name":"Cytokine storm","obsolete":false,"parents":["HP:0011113"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypercytokinemia"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the fetal part of the placenta, which is known as the chorion.","id":"HP:0033042","name":"Abnormal chorion morphology","obsolete":false,"parents":["HP:0100767"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Swelling of the chorionic villi owing to fluid accumulation.","id":"HP:0033043","name":"Edematous chorionic villi","obsolete":false,"parents":["HP:0033042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones.","id":"HP:0033044","name":"Motor regression","obsolete":false,"parents":["HP:0002376"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Regression of motor skills"}]} +{"alt_ids":[],"definition":"A palpable swelling in both feet and ankles caused by an increase in interstitial fluid volume (excess fluid).","id":"HP:0033045","name":"Bipedal edema","obsolete":false,"parents":["HP:0010741"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bipedal oedema"}]} +{"alt_ids":[],"definition":"Basophilic intracytoplasmic inclusions in macrophages. The inclusions have a small, round laminated appearance. Electron microscopy of Michaelis-Gutmann bodies exhibits partially digested bacteria.","id":"HP:0033046","name":"Michaelis-Gutmann bodies","obsolete":false,"parents":["HP:0004311"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Malakoplakia"}]} +{"alt_ids":[],"definition":"Body ache is a complaint that is often used to denote vague symptoms of mild fatigue, lethargy, or dull aches. We will define it here to mean a dull and poorly localizable pain that is described by the affected individual to affect multiple joints or body parts or even the entire body.","id":"HP:0033047","name":"Body ache","obsolete":false,"parents":["HP:0025142"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI).","id":"HP:0033048","name":"Substantia nigra hypointensity on susceptibility-weighted imaging","obsolete":false,"parents":["HP:0045007"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low signal intensity in the substantia nigra on susceptibility-weighted imaging (SWI)"}]} +{"alt_ids":[],"definition":"Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI).","id":"HP:0033049","name":"Globus pallidus hypointensity on susceptibility-weighted imaging","obsolete":false,"parents":["HP:0002453"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat.","id":"HP:0033050","name":"Pharyngalgia","obsolete":false,"parents":["HP:0012531","HP:0033152"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pharyngodynia"},{"scope":"EXACT","text":"Sore throat"},{"scope":"EXACT","text":"Throat discomfort"},{"scope":"EXACT","text":"Throat pain"}]} +{"alt_ids":[],"definition":"A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia.","id":"HP:0033051","name":"Impaired executive functioning","obsolete":false,"parents":["HP:0000708"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Psychogenic non-epileptic seizures (PNES) are not abnormal perceptions or abnormal beliefs/judgments, nor are they epileptic attacks. They are behaviors that simulate epileptic attacks, not fully consciously.","id":"HP:0033052","name":"Non-epileptic seizure","obsolete":false,"parents":["HP:0000708"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Functional seizure"},{"scope":"EXACT","text":"Psychogenic non-epileptic seizure"},{"scope":"EXACT","text":"Psychosomatic seizure"}]} +{"alt_ids":[],"definition":"Sudden, involuntary seizure-like attacks that, unlike epileptic seizures, are not related to electrographic ictal discharges.","id":"HP:0033053","name":"Pseudoseizure","obsolete":false,"parents":["HP:0033052"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures.","id":"HP:0033054","name":"Myoclonic tremor","obsolete":false,"parents":["HP:0040148"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Impaired ability to anticipate future events, implement instructions or goals, and develop appropriate steps ahead of time in order to carry out a task or activity.","id":"HP:0033055","name":"Impaired ability to plan","obsolete":false,"parents":["HP:0033051"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ineffective planning"}]} +{"alt_ids":[],"definition":"Impaired ability to bring order to information, actions, or materials to achieve a goal or to follow an established organized routine.","id":"HP:0033056","name":"Impaired ability to organize","obsolete":false,"parents":["HP:0033051"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Impaired ability to organise"}]} +{"alt_ids":[],"definition":"Concentration below the lower limit of normal of one or more components of the the terminal membrane attack complex (MAC) portion of complement, which represents the lytic, pore-forming part of the system. The MAC comprises seven components: C5b, C6, C7, C8 (a heterotrimer composed of C8alpha, C8beta and C8gamma) and multiple copies of C9.","id":"HP:0033057","name":"Decreased circulating terminal complement component concentration","obsolete":false,"parents":["HP:0004431"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased serum terminal complement component"}]} +{"alt_ids":[],"definition":"Concentration of the complement component C7 in the blood circulation below the lower limit of normal.","id":"HP:0033058","name":"Decreased circulating complement C7 concentration","obsolete":false,"parents":["HP:0033057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased serum complement C7"}]} +{"alt_ids":[],"definition":"Concentration of the complement component C6 in the blood circulation below the lower limit of normal.","id":"HP:0033059","name":"Decreased circulating complement C6 concentration","obsolete":false,"parents":["HP:0033057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of the complement component C5 in the blood circulation below the lower limit of normal.","id":"HP:0033060","name":"Decreased circulating complement C5 concentration","obsolete":false,"parents":["HP:0033057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased serum complement C5"}]} +{"alt_ids":[],"definition":"Elevated activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.","id":"HP:0033061","name":"Increased factor IX activity","obsolete":false,"parents":["HP:0033062"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.","id":"HP:0033062","name":"Abnormal factor IX activity","obsolete":false,"parents":["HP:0010989"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tendency to sleep fewer hours than usual while feeling well-rested.","id":"HP:0033063","name":"Shortened sleep phase","obsolete":false,"parents":["HP:0006979"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short sleep"}]} +{"alt_ids":[],"definition":"Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC).","id":"HP:0033064","name":"Renal interstitial globotriaosylceramide inclusions","obsolete":false,"parents":["HP:0032581"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of mildly increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio (ACR) less than 30 mg/gm (less than 3.4 mg/mmol).","id":"HP:0033065","name":"Mild albuminuria","obsolete":false,"parents":["HP:0012592"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of severely increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio greater than 300 mg/gm (greater than 34 mg/mmol).","id":"HP:0033066","name":"Severe albuminuria","obsolete":false,"parents":["HP:0012592"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Heavy albuminuria"}]} +{"alt_ids":[],"definition":null,"id":"HP:0033067","name":"Cystine crystalluria","obsolete":false,"parents":["HP:0020074"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usually favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber color. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance.","id":"HP:0033068","name":"Medication crystalluria","obsolete":false,"parents":["HP:0020074"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased number of IgG4+ plasma cells in the interstitial space of the kidney.","id":"HP:0033069","name":"Renal interstitial IgG4+ plasma cell infiltration","obsolete":false,"parents":["HP:0032581"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Impaired ability to track awareness of the effect that one's behavior has on others and how it compares with standards or expectations for behavior.","id":"HP:0033070","name":"Impaired self monitoring","obsolete":false,"parents":["HP:0033051"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Impaired ability to keep track of one's problem-solving success or failure, and to identify and correct mistakes during performance of a goal.","id":"HP:0033071","name":"Impaired task monitoring","obsolete":false,"parents":["HP:0033051"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anomalous physical appearance (color, cloudiness, clarity) or odor of urine.","id":"HP:0033072","name":"Abnormal macroscopic urine appearance","obsolete":false,"parents":["HP:0003110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Intradermal urate crystal deposits appeared as small, superficial, pustule-like, whitish lesions. The lesions may be the focus of inflammatory episodes with increasing pain, swelling, and erythema of the intradermal tophi.","id":"HP:0033073","name":"Urate tophus","obsolete":false,"parents":["HP:0011356"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Urate tophi"}]} +{"alt_ids":[],"definition":"Amelioration of anemia upon treatment with a steroid medication.","id":"HP:0033074","name":"Steroid-responsive anemia","obsolete":false,"parents":["HP:0001903"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prednisone-responsive anaemia"},{"scope":"EXACT","text":"Prednisone-responsive anemia"},{"scope":"EXACT","text":"Steroid-responsive anaemia"}]} +{"alt_ids":[],"definition":"A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3.","id":"HP:0033075","name":"Inappropriately normal thyroid-stimulating hormone level","obsolete":false,"parents":["HP:0031097"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inappropriately normal TSH"}]} +{"alt_ids":[],"definition":"A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects.","id":"HP:0033076","name":"Abnormal circulating free T4 concentration","obsolete":false,"parents":["HP:0031508"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal circulating free T4 level"},{"scope":"EXACT","text":"Abnormal circulating free thyroxine level"}]} +{"alt_ids":[],"definition":"An elevated concentration of free thyroxine (fT4) in the blood circulation.","id":"HP:0033077","name":"Increased circulating free T4 concentration","obsolete":false,"parents":["HP:0033076"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased circulating free T4 level"}]} +{"alt_ids":[],"definition":"A reduced concentration of free thyroxine (fT4) in the blood circulation.","id":"HP:0033078","name":"Decreased circulating free T4 concentration","obsolete":false,"parents":["HP:0033076"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating free T4 level"}]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the thyroid gland.","id":"HP:0033079","name":"Aplasia/Hypoplasia of the thyroid gland","obsolete":false,"parents":["HP:0011772"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesized by, stored within, and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal response in the TRH stimulation test.","id":"HP:0033080","name":"Abnormal TSH response to thyrotrophin-releasing hormone stimulation test","obsolete":false,"parents":["HP:0002926"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal TSH response to TRH stimulation test"}]} +{"alt_ids":[],"definition":"Failure to increase serum TSH levels in response to a TRH stimulation test.","id":"HP:0033081","name":"Absent TSH response to thyrotrophin-releasing hormone stimulation test","obsolete":false,"parents":["HP:0033080"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test.","id":"HP:0033082","name":"Reduced TSH response to thyrotrophin-releasing hormone stimulation test","obsolete":false,"parents":["HP:0033080"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevated level of farnesol in the blood circulation.","id":"HP:0033083","name":"Increased circulating farnesol concentration","obsolete":false,"parents":["HP:0003119"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from a count of antral follicles that is normal for age. Antral follicles appear as small fluid-filled sacs that contain an immature egg. Antral follicle count can be measured (usually on day 2-5 of the menstrual cycle) by transvaginal ultrasound. The number of antral follicles may reflect ovarian reserve.","id":"HP:0033084","name":"Abnormal antral follicle count","obsolete":false,"parents":["HP:0031066"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A count of antral follicles that is lower than normal for age.","id":"HP:0033085","name":"Reduced antral follicle count","obsolete":false,"parents":["HP:0033084"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A count of antral follicles that is higher than normal for age.","id":"HP:0033086","name":"Increased antral follicle count","obsolete":false,"parents":["HP:0033084"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fever that occurs at daily intervals.","id":"HP:0033087","name":"Quotidian fever","obsolete":false,"parents":["HP:0032323"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Urine valine level above the normal range.","id":"HP:0033088","name":"Valinuria","obsolete":false,"parents":["HP:0033089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased valine in urine"}]} +{"alt_ids":[],"definition":"An increased level of a branched chain family amino acid in the urine.","id":"HP:0033089","name":"Branched-chain aminoaciduria","obsolete":false,"parents":["HP:0033100"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevated level of an aromatic amino acid in the urine.","id":"HP:0033090","name":"Increased aromatic amino acid level in urine","obsolete":false,"parents":["HP:0033100"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased level of tyrosine in the urine.","id":"HP:0033091","name":"Tyrosinuria","obsolete":false,"parents":["HP:0033090"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased tyrosine in urine"}]} +{"alt_ids":[],"definition":"The concentration of succinate in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0033092","name":"Increased urine succinate level","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevated level of an glutamine family amino acid in the urine.","id":"HP:0033093","name":"Increased glutamine family amino acid level in urine","obsolete":false,"parents":["HP:0033100"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of glutamate in the urine.","id":"HP:0033094","name":"Increased urine glutamate level","obsolete":false,"parents":["HP:0033093"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased glutamic acid in urine"}]} +{"alt_ids":[],"definition":"An elevated level of a sulfur-containing amino acid in the urine.","id":"HP:0033095","name":"Increased sulfur amino acid level in urine","obsolete":false,"parents":["HP:0033100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased sulfur-containing amino acid level in urine"},{"scope":"EXACT","text":"Increased sulphur amino acid level in urine"}]} +{"alt_ids":[],"definition":"An elevated level of an aspartate family amino acid in the urine.","id":"HP:0033096","name":"Increased aspartate family amino acid level in urine","obsolete":false,"parents":["HP:0033100"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevated urine level of a compound that is derived from an amino acid.","id":"HP:0033097","name":"Increased urine proteinogenic amino acid derivative level","obsolete":false,"parents":["HP:0003355"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0034027"],"definition":"An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.","id":"HP:0033098","name":"Increased urinary non-proteinogenic amino acid level","obsolete":false,"parents":["HP:0003355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal urinary non-proteinogenic amino acid level"},{"scope":"EXACT","text":"Elevated urinary non-proteinogenic amino acid level"}]} +{"alt_ids":[],"definition":"An increased level of a serine family amino acid in the urine.","id":"HP:0033099","name":"Increased serine family amino acid in urine","obsolete":false,"parents":["HP:0033100"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.","id":"HP:0033100","name":"Increased proteinogenic amino acid level in urine","obsolete":false,"parents":["HP:0003355"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased level of aconitic acid in the urine.","id":"HP:0033101","name":"Elevated urine aconitic acid level","obsolete":false,"parents":["HP:0031980"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle.","id":"HP:0033102","name":"Monkey wrench femoral neck","obsolete":false,"parents":["HP:0003367"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Monkey wrench appearance of femoral neck"},{"scope":"EXACT","text":"Monkey wrench configuration of the proximal femur"},{"scope":"EXACT","text":"Swedish key appearance of femoral neck"},{"scope":"EXACT","text":"Swedish key configuration of the proximal femur"}]} +{"alt_ids":[],"definition":"The concentration of CHI3L1 in the blood circulation is above the upper limit of normal.","id":"HP:0033103","name":"Elevated circulating CHI3L1 concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated chitinase-3-like protein 1 concentration"},{"scope":"EXACT","text":"Elevated chitinase-3-like protein 1 level"},{"scope":"EXACT","text":"Elevated chitinase-3-like protein 1 level in blood"},{"scope":"EXACT","text":"Elevated circulating YKL40 level"},{"scope":"EXACT","text":"Elevated circulating chitinase 3-like 1 level"},{"scope":"EXACT","text":"Increased chitinase-3-like protein 1 concentration"},{"scope":"EXACT","text":"Increased chitinase-3-like protein 1 level"},{"scope":"EXACT","text":"Increased chitinase-3-like protein 1 level in blood"}]} +{"alt_ids":[],"definition":"Failure to develop fever in the presence of an infection that normally would be expected to elicit a febrile response.","id":"HP:0033104","name":"Inappropriate absence of fever","obsolete":false,"parents":["HP:0004370"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle.","id":"HP:0033105","name":"Interhypothalamic adhesion","obsolete":false,"parents":["HP:0012286"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypothalamic adhesion"}]} +{"alt_ids":[],"definition":"An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation.","id":"HP:0033106","name":"Elevated circulating D-dimer concentration","obsolete":false,"parents":["HP:0040224"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated D-dimers"},{"scope":"EXACT","text":"Elevated fibrin degradation fragment concentration"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of proteinogenic amino acid in the blood circulation.","id":"HP:0033107","name":"Abnormal circulating proteinogenic amino acid concentration","obsolete":false,"parents":["HP:0003112"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal proteinogenic amino acid level"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of proteinogenic amino acid derivative in the blood circulation.","id":"HP:0033108","name":"Abnormal circulating proteinogenic amino acid derivative concentration","obsolete":false,"parents":["HP:0003112"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal proteinogenic amino acid derivative level"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration in the blood circulation of an alpha-amino acid that is not a member of the group of 23 proteinogenic amino acids.","id":"HP:0033109","name":"Abnormal circulating non-proteinogenic amino acid concentration","obsolete":false,"parents":["HP:0003112"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal non-proteinogenic amino acid level"}]} +{"alt_ids":[],"definition":"An abnormally increased level of alpa-aminobutyric acid in the blood circulation. Alpha-aminobutyric acid alpha-amino acid that is butyric acid bearing a single amino substituent located at position 2.","id":"HP:0033110","name":"Elevated circulating alpha-aminobutyric acid concentration","obsolete":false,"parents":["HP:0033109"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating homoalanine concentration"}]} +{"alt_ids":[],"definition":"Concentration of 3-hydroxyisovaleric acid in the urine above the normal range.","id":"HP:0033111","name":"3-hydroxyisovaleric aciduria","obsolete":false,"parents":["HP:0001992"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased urine 3-hydroxyisovaleric acid level"}]} +{"alt_ids":[],"definition":"The concentration of apolipoprotein C-III in the blood circulation is above the upper limit of normal.","id":"HP:0033112","name":"Elevated circulating apolipoprotein C-III concentration","obsolete":false,"parents":["HP:0033460"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated APOC3 level"},{"scope":"EXACT","text":"Elevated apolipoprotein C-III concentration"},{"scope":"EXACT","text":"Elevated apolipoprotein C-III level"},{"scope":"EXACT","text":"Elevated apolipoprotein C-III level in blood"},{"scope":"EXACT","text":"Increased apolipoprotein C-III concentration"},{"scope":"EXACT","text":"Increased apolipoprotein C-III level"},{"scope":"EXACT","text":"Increased apolipoprotein C-III level in blood"}]} +{"alt_ids":[],"definition":"In the normal heart cycle, two heart sounds can be heard by auscultation per cycle: S1 and S2. A gallop rhythm refers to the presence of three or four heart sounds per cardiac cycle, which is said to resemble the gallop of a horse.","id":"HP:0033113","name":"Gallop rhythm","obsolete":false,"parents":["HP:0031657"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triple rhythm"}]} +{"alt_ids":[],"definition":"A type of gallop rhythm in which both the third and the fourth sounds are present.","id":"HP:0033114","name":"Quadruple gallop rhythm","obsolete":false,"parents":["HP:0033113"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of tenascin-C in the blood circulation is above the upper limit of normal.","id":"HP:0033115","name":"Elevated circulating tenascin-C concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Foci of gastric-type mucus-secreting cells interspersed between duodenal enterocytes. These foci of gastric epithelial cells contain Periodic acid-Schiff (PAS)-positive neutral mucin and lack a brush border.","id":"HP:0033116","name":"Duodenal gastric metaplasia","obsolete":false,"parents":["HP:0002246"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the lining of the upper small intestine (duodenum).","id":"HP:0033117","name":"Duodenitis","obsolete":false,"parents":["HP:0002246"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duodenal inflammation"}]} +{"alt_ids":[],"definition":"Anomalous physiology (function) of the right ventricle.","id":"HP:0033118","name":"Abnormal right ventricular function","obsolete":false,"parents":["HP:0030872"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg.","id":"HP:0033119","name":"Elevated right ventricular systolic pressure","obsolete":false,"parents":["HP:0033118"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of eczema characterized by pruritic coin-shaped patches on the skin. Nummular eczema most commonly occurs on the extremities, particularly the legs, but may occur anywhere on the trunk, hands, or feet","id":"HP:0033120","name":"Nummular eczema","obsolete":false,"parents":["HP:0000964"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Discoid eczema"},{"scope":"EXACT","text":"Nummular dermatitis"}]} +{"alt_ids":[],"definition":"A cough with a characteristic sound that has been compared to a seal's bark.","id":"HP:0033121","name":"Barking cough","obsolete":false,"parents":["HP:0012735"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Seal-like barking cough"}]} +{"alt_ids":[],"definition":"The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present.","id":"HP:0033122","name":"Absent P wave","obsolete":false,"parents":["HP:0031595"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of P wave on electrocardiography"}]} +{"alt_ids":[],"definition":"The concentration of osteopontin in the blood circulation is above the upper limit of normal.","id":"HP:0033123","name":"Elevated circulating osteopontin concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated osteopontin concentration"},{"scope":"EXACT","text":"Elevated osteopontin level"},{"scope":"EXACT","text":"Elevated osteopontin level in blood"},{"scope":"EXACT","text":"Increased osteopontin concentration"},{"scope":"EXACT","text":"Increased osteopontin level"},{"scope":"EXACT","text":"Increased osteopontin level in blood"}]} +{"alt_ids":[],"definition":"An concentration of sorbitol in the blood circulation is above the upper limit of normal.","id":"HP:0033124","name":"Elevated circulating sorbitol concentration","obsolete":false,"parents":["HP:0020349"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased serum sorbitol concentration"}]} +{"alt_ids":[],"definition":"An indolent B cell lymphoproliferative disorder of transformed follicular center B cells. Follicular lymphoma is characterized by diffuse lymphadenopathy, bone marrow involvement, splenomegaly and less commonly other extranodal sites of involvement.","id":"HP:0033125","name":"Follicular lymphoma","obsolete":false,"parents":["HP:0012191"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red colored skin or as slough (dead tissue, usually cream or yellow in colour).","id":"HP:0033126","name":"Cutaneous necrosis","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Skin necrosis"},{"scope":"EXACT","text":"Skin necrotic patch"}]} +{"alt_ids":[],"definition":"An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body.","id":"HP:0033127","name":"Abnormality of the musculoskeletal system","obsolete":false,"parents":["HP:0000118"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months.","id":"HP:0033128","name":"Delayed ability to crawl","obsolete":false,"parents":["HP:0002194"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anopmalous function of the shoulder. The shoulder is a ball-and-socket joint that is made up of humerus, scapula and clavicle, which are connected by the sternoclavicular joint (SC), the acromioclavicular joint (AC), the glenohumeral joint (GH), and the scapulothoracic joint (ST). The GH, AC and SC joints link the upper extremity to the axial skeleton at the thorax and enable movement at the shoulder joint: flexion, extension, and rotation of the arm.","id":"HP:0033129","name":"Abnormal shoulder physiology","obsolete":false,"parents":["HP:0034430"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anomalous echogenicity of the kidney on ultrasound examination.","id":"HP:0033130","name":"Abnormal renal echogenicity","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased echogenecity of the medullary region of the kidney.","id":"HP:0033131","name":"Renal medullary hyperechogenicity","obsolete":false,"parents":["HP:0033130"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased renal medullary echogenicity"}]} +{"alt_ids":[],"definition":"Increased echogenecity of the kidney cortex.","id":"HP:0033132","name":"Renal cortical hyperechogenicity","obsolete":false,"parents":["HP:0033130"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0033133","name":"Renal cortical hypoechogeneity","obsolete":false,"parents":["HP:0033130"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoechogenic renal cortex"}]} +{"alt_ids":[],"definition":"Fibrous bands (i.e., bands of scar-like tissue) that span two or more intra-abdominal organs and/or the inner abdominal wall (i.e. peritoneal membrane).","id":"HP:0033134","name":"Abdominal adhesions","obsolete":false,"parents":["HP:0001438"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intra-abdominal adhesion"}]} +{"alt_ids":[],"definition":"Hepatic infarction is defined as areas of coagulative necrosis from hepatocyte cell death caused by local ischemia. Liver infarctions appear as hypoechoic nonvascular regions on conventional and Doppler sonography.","id":"HP:0033135","name":"Hepatic infarction","obsolete":false,"parents":["HP:0410042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An inflamed lymph node that is filled with pus.","id":"HP:0033136","name":"Lymph node abscess","obsolete":false,"parents":["HP:0002733","HP:5210134"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli.","id":"HP:0033137","name":"Abnormal pulmonary alveolar system morphology","obsolete":false,"parents":["HP:0002088"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A thrombus (i.e., a blood clot formed in situ within the vascular system) located in the right atrium of the heart.","id":"HP:0033138","name":"Right atrial thrombus","obsolete":false,"parents":["HP:0025580"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of uracil in the blood circulation is above the normal range.","id":"HP:0033139","name":"Elevated circulating uracil concentration","obsolete":false,"parents":["HP:0004353"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of an upwardly displaced normal cerebellar vermis, normal appearance of the fastigium, tentorium and size of the cisterna magna.","id":"HP:0033140","name":"Blake's pouch cyst","obsolete":false,"parents":["HP:0000932"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Unusually severe clinical course of SARS-CoV-2 infection, manifested clinically by features such as dyspnea and hypoxia with diffuse bilateral ground-glass opacities of the lungs on computed tomographic scan with progressive respiratory insufficiency necessitating oxygen supplementation or mechanical ventilation.","id":"HP:0033141","name":"Severe SARS-CoV-2 infection","obsolete":false,"parents":["HP:0031691","HP:0034317"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated COVID-19"},{"scope":"EXACT","text":"Invasive COVID-19"},{"scope":"EXACT","text":"Severe COVID-19"}]} +{"alt_ids":[],"definition":"Increased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.","id":"HP:0033142","name":"Long nasal bridge","obsolete":false,"parents":["HP:0000422"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the lining of the middle section of the small intestine.","id":"HP:0033143","name":"Jejunitis","obsolete":false,"parents":["HP:0005265"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of ceruloplasmin in the blood circulation.","id":"HP:0033144","name":"Abnormal circulating ceruloplasmin concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal ceruloplasmin level"}]} +{"alt_ids":[],"definition":"The concentration of ceruloplasmin in the blood circulation is above the upper limit of normal.","id":"HP:0033145","name":"Elevated circulating ceruloplasmin concentration","obsolete":false,"parents":["HP:0033144"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated ceruloplasmin concentration"},{"scope":"EXACT","text":"Elevated ceruloplasmin level"},{"scope":"EXACT","text":"Elevated ceruloplasmin level in blood"},{"scope":"EXACT","text":"Increased ceruloplasmin concentration"},{"scope":"EXACT","text":"Increased ceruloplasmin level"},{"scope":"EXACT","text":"Increased ceruloplasmin level in blood"}]} +{"alt_ids":[],"definition":"Increased concentration of methylsuccinic acid in the blood circulation.","id":"HP:0033146","name":"Elevated circulating methylsuccinic acid concentration","obsolete":false,"parents":["HP:0010995"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of short-chain fatty acid in the blood circulation.","id":"HP:0033147","name":"Abnormal circulating short-chain fatty acid concentration","obsolete":false,"parents":["HP:0004359"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal circulating short-chain fatty-acid concentration"},{"scope":"EXACT","text":"Abnormal short-chain fatty acid level"}]} +{"alt_ids":[],"definition":"Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration.","id":"HP:0033148","name":"Increased circulating isovaleric acid concentration","obsolete":false,"parents":["HP:0033147"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased circulating isovalerate"},{"scope":"EXACT","text":"Isovalericacidemia"}]} +{"alt_ids":[],"definition":"Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).","id":"HP:0033149","name":"Intrahepatic bile duct dilatation","obsolete":false,"parents":["HP:0011040"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dilatation of intrahepatic biliary ducts"}]} +{"alt_ids":[],"definition":"An abscess located at the junction of the anal canal and the rectum.","id":"HP:0033150","name":"Anorectal abscess","obsolete":false,"parents":["HP:0002034","HP:0025615"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the pharynx.","id":"HP:0033151","name":"Abnormal pharynx morphology","obsolete":false,"parents":["HP:0000600"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional anomaly of the pharynx.","id":"HP:0033152","name":"Abnormal pharynx physiology","obsolete":false,"parents":["HP:0000600"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation.","id":"HP:0033153","name":"Elevated circulating dodecenoylcarnitine concentration","obsolete":false,"parents":["HP:0430143"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated plasma dodecenoylcarnitine concentration"}]} +{"alt_ids":[],"definition":"An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the blood circulation.","id":"HP:0033154","name":"Elevated circulating deoxypyridinoline concentration","obsolete":false,"parents":["HP:0033386"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally increased concentration of L-alloisoleucine in the blood circulation.","id":"HP:0033155","name":"Elevated circulating L-alloisoleucine concentration","obsolete":false,"parents":["HP:0033108"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally increased level of L-alloisoleucine in the urine.","id":"HP:0033156","name":"Elevated urine L-alloisoleucine level","obsolete":false,"parents":["HP:0033097"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase of the concentration of 3-methylhistidine in the blood circulation.","id":"HP:0033157","name":"Elevated circulating 3-methylhistidine concentration","obsolete":false,"parents":["HP:0033108"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal reduction in the number of beats per unit time of the respiratory cilia.","id":"HP:0033158","name":"Reduced respiratory ciliary beating frequency","obsolete":false,"parents":["HP:0012261"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dminished respiratory ciliary beat frequency"}]} +{"alt_ids":[],"definition":"The amount of inosine in the urine, normalized for urine concentration, is below the lower limit of normal. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond.","id":"HP:0033159","name":"Reduced urinary inosine level","obsolete":false,"parents":["HP:0040421"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of guanosine in the urine, normalized for urine concentration, is below the lower limit of normal. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond.","id":"HP:0033160","name":"Decreased urinary guanosine level","obsolete":false,"parents":["HP:0040423"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines.","id":"HP:0033161","name":"Abnormal urinary purine level","obsolete":false,"parents":["HP:0032572"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal amount of a pyrimidine compound in the urine. Pyrimidines and pyrimidine derivatives are compounds containing a pyrimidne ring, which is a six-member aromatic heterocycle which consists of two nitrogen atoms (at positions 1 and 3) and four carbon atoms. The nucleotides cytosine, thymine and uracil are pyrimidines.","id":"HP:0033162","name":"Abnormal urinary pyrimidine level","obsolete":false,"parents":["HP:0032572"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased number and/or abnormal type of bacteria in the small bowel. Small intestinal bacterial overgrowth has been defined as the presence of greater than one hundred thousand bacteria (i.e. colony-forming units, CFU) per mL of proximal jejunal aspiration. The normal value is ten thousand or few CFU/ml.","id":"HP:0033163","name":"Small intestinal bacterial overgrowth","obsolete":false,"parents":["HP:0002244"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal active colitis (FAC) is characterized by focal crypt damage caused by neutrophils. FAC is characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation.","id":"HP:0033164","name":"Focal active colitis","obsolete":false,"parents":["HP:0002583"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine.","id":"HP:0033165","name":"Necrotizing enterocolitis","obsolete":false,"parents":["HP:0004387"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis).","id":"HP:0033166","name":"Recurrent viral upper respiratory tract infections","obsolete":false,"parents":["HP:0002788","HP:0004429"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present.","id":"HP:0033167","name":"Neutrophilic urticarial dermatosis","obsolete":false,"parents":["HP:0001025"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally reduced activity of mevalonate kinase, which is a key enzyme in the mevalonate biosynthetic pathway that leads to the synthesis of both cholesterol and nonsterol isoprenoids.","id":"HP:0033168","name":"Reduced mevalonate kinase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally reduced volume of air in the lungs upon the maximum effort of inspiration.","id":"HP:0033169","name":"Reduced total lung capacity","obsolete":false,"parents":["HP:0030878"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced TLC"}]} +{"alt_ids":[],"definition":"Any deviation from the normal range of a skinfold thickness, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers.","id":"HP:0033170","name":"Abnormal skinfold thickness measurement","obsolete":false,"parents":["HP:0004323"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal range of the thickness of the triceps skinfold, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers.","id":"HP:0033171","name":"Abnormal triceps skinfold thickness","obsolete":false,"parents":["HP:0033170"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased thickness of the triceps skinfold, which is measured halfway down the back of the upper arm is increased.","id":"HP:0033172","name":"Increased triceps skinfold thickness","obsolete":false,"parents":["HP:0033171"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Return of lavage fluid with a milky appearance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space.","id":"HP:0033173","name":"Milky appearance of bronchoalveolar lavage fluid","obsolete":false,"parents":["HP:0032973"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Return of lavage fluid characteristically has a bloody appearance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding.","id":"HP:0033174","name":"Bloody bronchoalveolar lavage fluid","obsolete":false,"parents":["HP:0032973"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of L-pyroglutamic acid in the blood is above the upper limit of normal.","id":"HP:0033175","name":"Elevated circulating 5-oxoproline concentration","obsolete":false,"parents":["HP:0033108"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating L-pyroglutamic acid concentration"}]} +{"alt_ids":[],"definition":"Increased size of the lymph nodes that are located beneath the mandible (lower jaw).","id":"HP:0033176","name":"Submandibular lymph node enlargement","obsolete":false,"parents":["HP:0002716"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Submandibular lymphadenopathy"}]} +{"alt_ids":[],"definition":"An increased concentration of suberic acid in the blood circulation. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane.","id":"HP:0033177","name":"Elevated circulating suberic acid concentration","obsolete":false,"parents":["HP:0010995"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of interleukin-8 in the circulation.","id":"HP:0033178","name":"Increased circulating interleukin 8 concentration","obsolete":false,"parents":["HP:0011117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased serum IL-8"},{"scope":"EXACT","text":"Increased serum interleukin 8"},{"scope":"EXACT","text":"Increased serum interleukin-8"}]} +{"alt_ids":[],"definition":"Concentration of aconitic acid in the blood circulation above the upper limit of normal.","id":"HP:0033179","name":"Elevated circulating aconitic acid concentration","obsolete":false,"parents":["HP:0004354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The appendix testis or hydatid of Morgagni, is a vestigial remnant of the Müllerian duct located on the superior pole of the testicle between the testis and epididymis. Although this appendage has no vital function, it is present in 50% of males. Torsion of twisting of this vestigial remnant can be incredibly painful, but usually requires no medical intervention.","id":"HP:0033180","name":"Torsion of appendix of testis","obsolete":false,"parents":["HP:0000035"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Twisted vestigial remnant of the Muellerian duct"}]} +{"alt_ids":[],"definition":"Spinal epidural abscess (SEA) is caused by a suppurative infection in the epidural space. The mass effect of the abscess can compress and reduce blood flow to the spinal cord, conus medullaris, or cauda equina.","id":"HP:0033181","name":"Spinal epidural abscess","obsolete":false,"parents":["HP:0025615"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"A severe pyogenic infection of the epidural space"}]} +{"alt_ids":[],"definition":"An increase in concentration of cathepsin D in the blood circulation.","id":"HP:0033182","name":"Increased circulating cathepsin D level","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung.","id":"HP:0033183","name":"Bilobed right lung","obsolete":false,"parents":["HP:0002101"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0033184","name":"Triggered by infection","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by infection by the Epstein-Barr virus.","id":"HP:0033185","name":"Triggered by EBV infection","obsolete":false,"parents":["HP:0033198"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triggered by Epstein Barr virus infection"}]} +{"alt_ids":[],"definition":"The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins.","id":"HP:0033186","name":"Misalignment of the pulmonary veins","obsolete":false,"parents":["HP:0030968"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Elevated levels of proline-containing dipeptides in urine.","id":"HP:0033187","name":"Hyperimidodipeptiduria","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Imidodipeptiduria"}]} +{"alt_ids":[],"definition":"A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum.","id":"HP:0033188","name":"Cystic acne","obsolete":false,"parents":["HP:0001061"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Tooth root length more than 2 SD above mean, or subjectively apparently increased tooth root length.","id":"HP:0033189","name":"Radiculomegaly","obsolete":false,"parents":["HP:0040220"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Long dental root"},{"scope":"EXACT","text":"Rhizomegaly"},{"scope":"EXACT","text":"Root gigantism"}]} +{"alt_ids":[],"definition":"A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth.","id":"HP:0033190","name":"Hypertrichotic hyperpigmented patch","obsolete":false,"parents":["HP:0000953"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cutaneous hyperpigmentation with overlying hypertrichosis"}]} +{"alt_ids":[],"definition":"An increased concentration of selenium in the blood circulation.","id":"HP:0033191","name":"Increased circulating selenium concentration","obsolete":false,"parents":["HP:0031903"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally reduced concentration of selenium in the blood circulation.","id":"HP:0033192","name":"Decreased circulating selenium concentration","obsolete":false,"parents":["HP:0031903"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarefied, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62.","id":"HP:0033193","name":"Ballooning hepatocyte degeneration","obsolete":false,"parents":["HP:0034713"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ballooning degeneration of hepatocytes"}]} +{"alt_ids":[],"definition":"Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth.","id":"HP:0033194","name":"Perioral erythema","obsolete":false,"parents":["HP:0010783"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the anus.","id":"HP:0033195","name":"Perianal erythema","obsolete":false,"parents":["HP:0010783"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Infiltration of portal fields by inflammatory cells.","id":"HP:0033196","name":"Portal inflammation","obsolete":false,"parents":["HP:0004297"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hepatic portal inflammation"}]} +{"alt_ids":[],"definition":"Infiltration of inflammatory cells in lobules of the liver. A focus of lobular inflammation can be defined as two or more inflammatory cells (neutrophils, lymphocytes and other mononuclear cells, eosinophils and microgranulomas) within the lobule present within the sinusoids or surrounding injured hepatocytes (ballooned or apoptotic hepatocytes).","id":"HP:0033197","name":"Hepatic lobular inflammation","obsolete":false,"parents":["HP:0030146"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by infection by a virus.","id":"HP:0033198","name":"Triggered by viral infection","obsolete":false,"parents":["HP:0033184"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevation of the concentration of interleukin 10 in the blood circulation.","id":"HP:0033199","name":"Increased circulating interleukin 10 concentration","obsolete":false,"parents":["HP:0034162"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased serum interleukin 10"}]} +{"alt_ids":[],"definition":"Reduced intensity of the triceps tendon reflex.","id":"HP:0033200","name":"Triceps hyporeflexia","obsolete":false,"parents":["HP:0012391"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyporeflexia of triceps"}]} +{"alt_ids":[],"definition":"Reduced intensity of the biceps tendon reflex.","id":"HP:0033201","name":"Biceps hyporeflexia","obsolete":false,"parents":["HP:0012391"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyporeflexia of biceps"}]} +{"alt_ids":[],"definition":"Reduced intensity of the brachioradialis tendon reflex.","id":"HP:0033202","name":"Brachioradialis hyporeflexia","obsolete":false,"parents":["HP:0012391"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased intensity of the brachioradialis reflex.","id":"HP:0033203","name":"Brachioradialis hyperreflexia","obsolete":false,"parents":["HP:0007054","HP:0007350"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased intensity of the triceps reflex.","id":"HP:0033204","name":"Triceps hyperreflexia","obsolete":false,"parents":["HP:0007350"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased intensity of the biceps reflex.","id":"HP:0033205","name":"Biceps hyperreflexia","obsolete":false,"parents":["HP:0007350"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased intensity of the Achilles reflex.","id":"HP:0033206","name":"Hyperactive Achilles reflex","obsolete":false,"parents":["HP:0002395"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperactive ankle jerk reflex"},{"scope":"EXACT","text":"Hyperactive ankle reflex"}]} +{"alt_ids":[],"definition":"Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures.","id":"HP:0033207","name":"Increased CD21low B cell proportion","obsolete":false,"parents":["HP:0025539"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased proportion autoreactive unresponsive CD21-/low B cells"}]} +{"alt_ids":[],"definition":"A developmental defect of the alveolar airspace during cananicular lung development characterized by a decreased number of pulmonary capillaries located away from the alveolar epithelium, thickened alveolar septae, media hypertrophy of small pulmonary arteries and muscularization of distal arterioles, and in some cases lymphangiectasis.","id":"HP:0033208","name":"Alveolar capillary dysplasia","obsolete":false,"parents":["HP:4000060"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Arrest of lung development in the pseudoglandular stage (weeks 8 to 16 of human gestation) resulting in small sized lungs, predominantly composed of bronchial and bronchiolar structures embedded in abundant loose mesenchyme that is poorly vascularized. Acinar structures are essentially absent, with no significant formation of saccules and no alveoli.","id":"HP:0033209","name":"Acinar dysplasia","obsolete":false,"parents":["HP:0006703"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Arrest of lung development in the cananicular stage (weeks 18 to 26 of human gestation) resulting in simplified acinar spaces, frequently with abundant intervening mesenchyme and no alveoli. In later arrest growth stages early saccular formations may be seen. May resemble the lobular maldevelopment often seen in alveolar capillary dysplasia/misaligment of the pulmonary veins without vein misalignment or marked hypertensive changes of the pulmonary arteries.","id":"HP:0033210","name":"Congenital alveolar dysplasia","obsolete":false,"parents":["HP:0006703"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.","id":"HP:0033211","name":"Decreased total iron binding capacity","obsolete":false,"parents":["HP:0033212"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added.","id":"HP:0033212","name":"Abnormal total iron binding capacity","obsolete":false,"parents":["HP:0011031"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of suberic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0033213","name":"Elevated urine suberic acid level","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urine octanedioic acid level"}]} +{"alt_ids":[],"definition":"Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias.","id":"HP:0033214","name":"Recurrent viral pneumonia","obsolete":false,"parents":["HP:0004429","HP:0006532"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0033215","name":"Obliterative abnormality of the renal glomerulus","obsolete":false,"parents":["HP:0000095"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular.","id":"HP:0033216","name":"Glomerular hyalinosis","obsolete":false,"parents":["HP:0033215"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum.","id":"HP:0033217","name":"Perihilar glomerular hyalinosis","obsolete":false,"parents":["HP:0033216"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole.","id":"HP:0033218","name":"Glomerular hyalinosis at the tubular pole","obsolete":false,"parents":["HP:0033216"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section.","id":"HP:0033219","name":"Glomerular hyalinosis away from the vascular and tubular poles","obsolete":false,"parents":["HP:0033216"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of 2-ethylhydracylic acid in the urine.","id":"HP:0033220","name":"2-ethylhydracylic aciduria","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urinary 2-ethylhydracylic acid"},{"scope":"EXACT","text":"Elevated urinary 2-methylbutyrylglycine"}]} +{"alt_ids":[],"definition":"An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells.","id":"HP:0033221","name":"Increased CD4:CD8 ratio","obsolete":false,"parents":["HP:0031394"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"CD4:CD8 ratio less than 1, measured either as proportion of total CD3+ T cells, or in absolute numbers per microliter. These are usually measured within the TCR alpha/beta positive population. Normally there are relatively more CD4+ than CD8+ T cells.","id":"HP:0033222","name":"Inverted CD4:CD8 ratio","obsolete":false,"parents":["HP:0031394"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased CD4:CD8 ratio"},{"scope":"EXACT","text":"Inverted CD4/CD8 ratio"}]} +{"alt_ids":[],"definition":"Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole.","id":"HP:0033223","name":"Abnormal glomerular parietal epithelial cell morphology","obsolete":false,"parents":["HP:0031264"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering.","id":"HP:0033224","name":"Glomerular parietal epithelial cell hyperplasia","obsolete":false,"parents":["HP:0033223"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperplasia of the glomerular parietal epithelial cell"}]} +{"alt_ids":[],"definition":"An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present","id":"HP:0033225","name":"Glomerular parietal epithelial cell hypertrophy","obsolete":false,"parents":["HP:0033223"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypertrophy of the glomerular parietal epithelial cell"}]} +{"alt_ids":[],"definition":"An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material.","id":"HP:0033226","name":"Bowman capsular hyaline drops","obsolete":false,"parents":["HP:0031264"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Capsular hyaline drops within Bowman's capsule"}]} +{"alt_ids":[],"definition":"An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis.","id":"HP:0033227","name":"Glomerular synechial adhesion","obsolete":false,"parents":["HP:0033282"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inability to elicit triceps tendon reflex.","id":"HP:0033228","name":"Triceps areflexia","obsolete":false,"parents":["HP:0012046"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Areflexia of triceps"}]} +{"alt_ids":[],"definition":"Inability to elicit brachioradialis tendon reflex.","id":"HP:0033229","name":"Brachioradialis areflexia","obsolete":false,"parents":["HP:0012046"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Areflexia of brachioradialis"}]} +{"alt_ids":[],"definition":"Inability to elicit biceps tendon reflex.","id":"HP:0033230","name":"Biceps areflexia","obsolete":false,"parents":["HP:0012046"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Areflexia of biceps"}]} +{"alt_ids":[],"definition":"Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney.","id":"HP:0033231","name":"Abnormal glomerular mesangial cellularity","obsolete":false,"parents":["HP:0001966"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix.","id":"HP:0033232","name":"Abnormal glomerular mesangial matrix morphology","obsolete":false,"parents":["HP:0001966"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane.","id":"HP:0033233","name":"Paramesangial deposits","obsolete":false,"parents":["HP:0001966"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material.","id":"HP:0033234","name":"Mesangial hyaline deposition","obsolete":false,"parents":["HP:0001966"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced ability to desscend stairs.","id":"HP:0033235","name":"Difficulty descending stairs","obsolete":false,"parents":["HP:0004302"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Difficulty walking down stairs"}]} +{"alt_ids":[],"definition":"A failure to sustain attention that requires self-motivation to optimize performance.","id":"HP:0033236","name":"Cognitive fatigue","obsolete":false,"parents":["HP:0012378"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Central fatigue"}]} +{"alt_ids":[],"definition":"Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'.","id":"HP:0033237","name":"Visceral epithelial cell detachment","obsolete":false,"parents":["HP:0031265"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Detachment of visceral epithelial cells"},{"scope":"EXACT","text":"Podocyte detachment"}]} +{"alt_ids":[],"definition":"Cytoplasmic projections into the urinary space from the luminal side of the podocyte.","id":"HP:0033238","name":"Podocyte microvillous transformation","obsolete":false,"parents":["HP:0031265"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus.","id":"HP:0033239","name":"Visceral epithelial cell capping","obsolete":false,"parents":["HP:0020133"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Podocyte cap"}]} +{"alt_ids":[],"definition":"An increase in the ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and (3) body plethysmography. An elevated RV/TLC can be interpreted as a sign of air trapping and hyperinflation.","id":"HP:0033240","name":"Elevated RV/TLC ratio","obsolete":false,"parents":["HP:0033772"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Hyperinflation on pulmonary function test"},{"scope":"RELATED","text":"Overinflation on pulmonary function test"}]} +{"alt_ids":[],"definition":"An elevation of the total count of alveoli as determined by microscopic point-counting of randomly taken lung sections, not secondary to abnormalities in number, size and structure of the airways. In polyaveolar lobe, the number of alveoli is generally increased three to fivefold.","id":"HP:0033241","name":"Polyalveolar lobe","obsolete":false,"parents":["HP:4000060"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac.","id":"HP:0033242","name":"Horseshoe lung","obsolete":false,"parents":["HP:0002101"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cellular death affecting one or more parts of the lung. Necrosis is caused by diverse external and internal factors which result in the unregulated digestion of cell components.","id":"HP:0033243","name":"Pulmonary necrosis","obsolete":false,"parents":["HP:0006530"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells.","id":"HP:0033244","name":"Glycogen accumulation in pulmonary interstitial cells","obsolete":false,"parents":["HP:0006530"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural abnormality of alveolar type 2 (ATII) cells.","id":"HP:0033245","name":"Abnormal alveolar type II pneumocyte morphology","obsolete":false,"parents":["HP:0033137"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal alveolar epithelial type II cell morphology"},{"scope":"EXACT","text":"Abnormal pulmonary type II cell morphology"},{"scope":"EXACT","text":"Abnormal type II pneumocyte morphology"}]} +{"alt_ids":[],"definition":"Increase in size of type II pneumocytes, characterized by qualitative morphologic alterations, including cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin.","id":"HP:0033246","name":"Type II pneumocyte hypertrophy","obsolete":false,"parents":["HP:0033245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypertrophic alveolar type II cells"},{"scope":"EXACT","text":"Hypertrophic alveolar type II pneumocytes"}]} +{"alt_ids":[],"definition":"Extracellular deposition in lung tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.","id":"HP:0033247","name":"Pulmonary amyloidosis","obsolete":false,"parents":["HP:0006530","HP:0020015"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin.","id":"HP:0033248","name":"Multiple pulmonary interstitial hyalinized nodules","obsolete":false,"parents":["HP:0006530"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging.","id":"HP:0033249","name":"Focal substantia nigra T2 hyperintensity","obsolete":false,"parents":["HP:0045007"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal substantia nigra T2 hyperintense lesion"}]} +{"alt_ids":[],"definition":"An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels.","id":"HP:0033250","name":"Nailfold capillary tortuosity","obsolete":false,"parents":["HP:0001597"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increase in the amount of air remaining in a person's lungs after full exhalation.","id":"HP:0033251","name":"Elevated residual volume","obsolete":false,"parents":["HP:0033752"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated RV"}]} +{"alt_ids":[],"definition":"Exaggerated skin markings (dermatoglyphics) on the palms of the hand.","id":"HP:0033252","name":"Palmar hyperlinearity","obsolete":false,"parents":["HP:0040211"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction in the concentration of interferon gamma measured in the blood circulation.","id":"HP:0033253","name":"Reduced circulating interferon gamma concentration","obsolete":false,"parents":["HP:0030355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced circulating interferon gamma"}]} +{"alt_ids":[],"definition":"Narrowing of the anorectum associated with inflammation or scar tissue.","id":"HP:0033254","name":"Anorectal stricture","obsolete":false,"parents":["HP:0012732"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Stricture of the anorectum"}]} +{"alt_ids":[],"definition":"A congenital malformation characterized by an overdistended segment of lung, affecting an party of a lobe or the entire one. It results in progressive overinflation of one or more lobes.","id":"HP:0033255","name":"Congenital lobar overinflation","obsolete":false,"parents":["HP:0002101"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital lobar emphysema"}]} +{"alt_ids":[],"definition":"Inflammation of the entire colon.","id":"HP:0033256","name":"Pancolitis","obsolete":false,"parents":["HP:0002583"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A failure to achieve the ability to walk with support (cruise) at an appropriate developmental stage.","id":"HP:0033257","name":"Delayed ability to walk with support","obsolete":false,"parents":["HP:0002194"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delayed ability to cruise"}]} +{"alt_ids":[],"definition":"Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death.","id":"HP:0033258","name":"Sudden unexpected death in epilepsy","obsolete":false,"parents":["HP:0001699"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"SUDEP"}]} +{"alt_ids":[],"definition":"A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown.","id":"HP:0033259","name":"Non-motor seizure","obsolete":false,"parents":["HP:0001250"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming.","id":"HP:0033260","name":"Livedo racemosa","obsolete":false,"parents":["HP:0033832"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment.","id":"HP:0033261","name":"Renal artery aneurysm","obsolete":false,"parents":["HP:0008776"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis.","id":"HP:0033262","name":"Transphyseal fracture of the distal humerus","obsolete":false,"parents":["HP:0041055"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Transphyseal distal humerus fracture"}]} +{"alt_ids":[],"definition":"Lack of platelet dense granules, a type of platelet organelles.","id":"HP:0033263","name":"Absent platelet dense granules","obsolete":false,"parents":["HP:0012530"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent platelet dense bodies"}]} +{"alt_ids":[],"definition":"Increased size of platelet dense granules.","id":"HP:0033264","name":"Enlarged platelet dense granules","obsolete":false,"parents":["HP:0012484"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lamellated intracytoplasmic lipid inclusions within podocytes.","id":"HP:0033265","name":"Podocyte myelin figures","obsolete":false,"parents":["HP:0031265"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Podocyte myelin inclusions"}]} +{"alt_ids":[],"definition":"Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact.","id":"HP:0033266","name":"Glomerular pseudocrescent","obsolete":false,"parents":["HP:0031265"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus.","id":"HP:0033267","name":"Abnormal glomerular capillary lumen morphology","obsolete":false,"parents":["HP:0025006"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane.","id":"HP:0033268","name":"Deflation of the glomerular tuft","obsolete":false,"parents":["HP:0033267"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs).","id":"HP:0033269","name":"Glomerular capillary collapse","obsolete":false,"parents":["HP:0033267"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Collapse of glomerular capillary walls"}]} +{"alt_ids":[],"definition":"Global distention of glomerular capillaries with intraluminal intact red blood cells.","id":"HP:0033270","name":"Glomerular capillary congestion","obsolete":false,"parents":["HP:0033267"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Glomerular congestion"}]} +{"alt_ids":[],"definition":"Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis.","id":"HP:0033271","name":"Glomerular capillary microaneurysm","obsolete":false,"parents":["HP:0033267"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier.","id":"HP:0033272","name":"Abnormal glomerular endothelial cell morphology","obsolete":false,"parents":["HP:0025006"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm.","id":"HP:0033273","name":"Loss of glomerular endothelial cell fenestration","obsolete":false,"parents":["HP:0033272"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen.","id":"HP:0033274","name":"Glomerular endotheliosis","obsolete":false,"parents":["HP:0033272"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon.","id":"HP:0033275","name":"Glomerular endothelial tubuloreticular inclusion","obsolete":false,"parents":["HP:0033272"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0033276","name":"obsolete Glomerular endocapillary hypercellularity","obsolete":true,"parents":[],"replaced_by":["HP:0000095"],"synonyms":[]} +{"alt_ids":[],"definition":"Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis.","id":"HP:0033277","name":"Glomerular fibrinoid necrosis","obsolete":false,"parents":["HP:0025006"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells.","id":"HP:0033278","name":"Reduced CD95-induced lymphocyte apoptosis","obsolete":false,"parents":["HP:0002731"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin.","id":"HP:0033279","name":"Enterocutaneous fistula","obsolete":false,"parents":["HP:0100819"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Enlargement of lymph nodes surrounding the trachea.","id":"HP:0033280","name":"Paratracheal lymphadenopathy","obsolete":false,"parents":["HP:0002716"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of nucleated red blood cells in the peripheral blood circulation.","id":"HP:0033281","name":"Circulating nucleated red blood cells","obsolete":false,"parents":["HP:0001877"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormal sttructure of the glomerular basement membrane.","id":"HP:0033282","name":"Abnormal glomerular basement membrane morphology","obsolete":false,"parents":["HP:0000095"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals.","id":"HP:0033283","name":"Segmentally thickened glomerular basement membrane","obsolete":false,"parents":["HP:0033285"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Prominent glomerular basement membrane (GBM) reflecting an diffuse and relatively uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals.","id":"HP:0033284","name":"Diffusely thickened glomerular basement membrane","obsolete":false,"parents":["HP:0033285"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy.","id":"HP:0033285","name":"Thickened glomerular basement membranes with no electron dense deposits","obsolete":false,"parents":["HP:0004722"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0033286","name":"Thickened glomerular basement membranes with electron dense deposits","obsolete":false,"parents":["HP:0004722"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits.","id":"HP:0033287","name":"Glomerular basement membrane lucencies","obsolete":false,"parents":["HP:0033282"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0033288","name":"Glomerular basement membrane spikes","obsolete":false,"parents":["HP:0033282"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Irregular folding of the glomerular basement membrane with an intact lamina densa.","id":"HP:0033289","name":"Glomerular basement membrane wrinkling","obsolete":false,"parents":["HP:0033282"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material.","id":"HP:0033290","name":"Glomerular subendothelial widening","obsolete":false,"parents":["HP:0033282"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Apoptotic, pyknotic, and fragmented nuclei within the glomerulus.","id":"HP:0033291","name":"Glomerular karyhorrhectic debris","obsolete":false,"parents":["HP:0033267"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen.","id":"HP:0033292","name":"Glomerular fibrin thrombus","obsolete":false,"parents":["HP:0033267"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Intracapillary amorphous, eosinophilic material consisting of immune deposits.","id":"HP:0033293","name":"Glomerular hyaline pseudothrombus","obsolete":false,"parents":["HP:0033267"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections.","id":"HP:0033294","name":"Glomerular lipoprotein thrombus","obsolete":false,"parents":["HP:0033267"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit.","id":"HP:0033295","name":"Mesangial Immune complex deposition","obsolete":false,"parents":["HP:0001966"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy.","id":"HP:0033296","name":"Binucleated visceral epithelial cells","obsolete":false,"parents":["HP:0031265"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Binucleated podocytes"}]} +{"alt_ids":[],"definition":"Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy.","id":"HP:0033297","name":"Multinucleated visceral epithelial cells","obsolete":false,"parents":["HP:0031265"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multinucleated podocytes"},{"scope":"EXACT","text":"Podocyte multinucleation"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of complement factor H-related protein 1 in the blood circulation.","id":"HP:0033298","name":"Abnormal circulating complement factor H-related protein 1 concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal complement factor H-related protein 1 level"}]} +{"alt_ids":[],"definition":"The concentration of complement factor H-related protein 1 in the blood circulation is below the lower limit of normal.","id":"HP:0033299","name":"Decreased circulating complement factor H-related protein 1 concentration","obsolete":false,"parents":["HP:0033298"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased complement factor H-related protein 1 concentration"},{"scope":"EXACT","text":"Decreased complement factor H-related protein 1 level"},{"scope":"EXACT","text":"Decreased complement factor H-related protein 1 level in blood"},{"scope":"EXACT","text":"Reduced complement factor H-related protein 1 concentration"},{"scope":"EXACT","text":"Reduced complement factor H-related protein 1 level"},{"scope":"EXACT","text":"Reduced complement factor H-related protein 1 level in blood"}]} +{"alt_ids":[],"definition":"The concentration of complement factor H-related protein 1 in the blood circulation is above the upper limit of normal.","id":"HP:0033300","name":"Elevated circulating complement factor H-related protein 1 concentration","obsolete":false,"parents":["HP:0033298"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated complement factor H-related protein 1 concentration"},{"scope":"EXACT","text":"Elevated complement factor H-related protein 1 level"},{"scope":"EXACT","text":"Elevated complement factor H-related protein 1 level in blood"},{"scope":"EXACT","text":"Increased complement factor H-related protein 1 concentration"},{"scope":"EXACT","text":"Increased complement factor H-related protein 1 level"},{"scope":"EXACT","text":"Increased complement factor H-related protein 1 level in blood"}]} +{"alt_ids":[],"definition":"An abnormally increased level of 1-methylhistidine in the blood circulation. 1-methylhistidine is a derivative of L-histidine.","id":"HP:0033301","name":"Elevated circulating 1-methylhistidine concentration","obsolete":false,"parents":["HP:0033109"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of 4-Hydroxyphenylacetic acid in the blood circulation is above the upper limit of normal.","id":"HP:0033302","name":"Elevated circulating 4-hydroxyphenylacetic acid concentration","obsolete":false,"parents":["HP:0010996"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group.","id":"HP:0033303","name":"Elevated urinary monocarboxylic acid level","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Monocarboxylic aciduria"}]} +{"alt_ids":[],"definition":null,"id":"HP:0033304","name":"obsolete Elevated urine 4-hydroxyphenylacetic acid level","obsolete":true,"parents":[],"replaced_by":["HP:0003607"],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of fetuin-A in the blood circulation.","id":"HP:0033305","name":"Abnormal circulating fetuin-A concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal alpha-2-HS-glycoprotein level"}]} +{"alt_ids":[],"definition":"The concentration of fetuin-A in the blood circulation is below the lower limit of normal.","id":"HP:0033306","name":"Decreased circulating fetuin-A concentration","obsolete":false,"parents":["HP:0033305"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased alpha-2-HS-glycoprotein concentration"},{"scope":"EXACT","text":"Decreased alpha-2-HS-glycoprotein level"},{"scope":"EXACT","text":"Decreased alpha-2-HS-glycoprotein level in blood"},{"scope":"EXACT","text":"Reduced alpha-2-HS-glycoprotein concentration"},{"scope":"EXACT","text":"Reduced alpha-2-HS-glycoprotein level"},{"scope":"EXACT","text":"Reduced alpha-2-HS-glycoprotein level in blood"}]} +{"alt_ids":[],"definition":"The concentration of fetuin-A in the blood circulation is above the upper limit of normal.","id":"HP:0033307","name":"Elevated circulating fetuin-A concentration","obsolete":false,"parents":["HP:0033305"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated alpha-2-HS-glycoprotein concentration"},{"scope":"EXACT","text":"Elevated alpha-2-HS-glycoprotein level"},{"scope":"EXACT","text":"Elevated alpha-2-HS-glycoprotein level in blood"},{"scope":"EXACT","text":"Increased alpha-2-HS-glycoprotein concentration"},{"scope":"EXACT","text":"Increased alpha-2-HS-glycoprotein level"},{"scope":"EXACT","text":"Increased alpha-2-HS-glycoprotein level in blood"}]} +{"alt_ids":[],"definition":"Excessive growth of the kneecap (patella).","id":"HP:0033308","name":"Patellar overgrowth","obsolete":false,"parents":["HP:0003045"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of intussusception of the small intestine in which one part of the ileum invaginates (telescopes) into another part of the ileum.","id":"HP:0033309","name":"Ileoileal intussusception","obsolete":false,"parents":["HP:0002576"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Osmotic diarrhea results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption.","id":"HP:0033310","name":"Osmotic diarrhea","obsolete":false,"parents":["HP:0002014"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tear in the intimal layer of the abdominal aorta causing a separation between the intima and the medial layers.","id":"HP:0033311","name":"Abdominal aortic dissection","obsolete":false,"parents":["HP:0002647"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron.","id":"HP:0033312","name":"Abnormal Bowman space morphology","obsolete":false,"parents":["HP:0031264"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft.","id":"HP:0033313","name":"Urinary space collagenization","obsolete":false,"parents":["HP:0033312"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Collagenization of the urinary space"}]} +{"alt_ids":[],"definition":"Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium.","id":"HP:0033314","name":"Visceral epithelial cell hyperplasia","obsolete":false,"parents":["HP:0031265"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperplasia of visceral epithelial cells"},{"scope":"EXACT","text":"Podocyte hyperplasia"}]} +{"alt_ids":[],"definition":"Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells.","id":"HP:0033315","name":"Visceral epithelial hyaline droplets","obsolete":false,"parents":["HP:0031265"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin.","id":"HP:0033316","name":"Glomerular crescent formation","obsolete":false,"parents":["HP:0033312"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix.","id":"HP:0033317","name":"Cellular crescent","obsolete":false,"parents":["HP:0033316"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix.","id":"HP:0033318","name":"Fibrocellular crescent","obsolete":false,"parents":["HP:0033316"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference.","id":"HP:0033319","name":"Fibrous crescent","obsolete":false,"parents":["HP:0033316"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Loss of mesangial cells segmentally or globally.","id":"HP:0033320","name":"Mesangial cell loss","obsolete":false,"parents":["HP:0033231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium.","id":"HP:0033321","name":"Glomerular obsolescence","obsolete":false,"parents":["HP:0004737"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM.","id":"HP:0033322","name":"Glomerular capillary wall duplication without cellular interposition","obsolete":false,"parents":["HP:0025006"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM.","id":"HP:0033323","name":"Glomerular capillary wall duplication with cellular interposition","obsolete":false,"parents":["HP:0025006"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of homovanillic acid in the blood circulation is above the upper limit of normal.","id":"HP:0033324","name":"Elevated circulating homovanillic acid concentration","obsolete":false,"parents":["HP:0010996"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased concentration of sebacic acid in the blood circulation.","id":"HP:0033325","name":"Elevated circulating sebacic acid concentration","obsolete":false,"parents":["HP:0010995"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of 4-hydroxyphenlyllactic acid in the blood circulation.","id":"HP:0033326","name":"Elevated circulating hydroxyphenyllactic acid concentration","obsolete":false,"parents":["HP:0004354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Psoriatic nail abnormality characterized by the presence of neutrophils in the nail bed epithelium, hyperkeratosis with parakeratosis, presence of exudates on the corneal epithelium, focal hypogranulosis and psoriasiform hyperplasia of the nail bed.","id":"HP:0033327","name":"Nail psoriasis","obsolete":false,"parents":["HP:0001597"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increase in the number of type II pneumocytes.","id":"HP:0033328","name":"Type II pneumocyte hyperplasia","obsolete":false,"parents":["HP:0033245"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anomaly of the physiological response to maintain the body's posture when movement and position is altered.","id":"HP:0033329","name":"Abnormal postural reflex","obsolete":false,"parents":["HP:0031826"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal postural reaction"}]} +{"alt_ids":[],"definition":"Abnormal neck-righting response, which is said to be a physiological response when a child is placed flat on his or her back and the head is turned 90 degrees to the right or the left. With a normal neck-righting response, there follows a reflected torsion of the vertebral column in the same direction as the induced rotation of the neck. That is, the whole body follows the direction in which the head was turned. The response is present from birth to the age of five years.","id":"HP:0033330","name":"Impaired neck-righting reflex","obsolete":false,"parents":["HP:0033329"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of one or more manifestations of the acute phase response. Acute phase proteins (APP) are blood proteins primarily synthesized by hepatocytes as part of the acute phase response (APR). The APR is part of the early-defense or innate immune system, which is triggered by different stimuli including trauma, infection, stress, neoplasia, and inflammation. The APR results in a complex systemic reaction with the goal of reestablishing homeostasis and promoting healing.","id":"HP:0033331","name":"Acute phase response","obsolete":false,"parents":["HP:0001939"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of serum amyloid A in the blood circulation is above the upper limit of normal.","id":"HP:0033332","name":"Elevated circulating serum amyloid A concentration","obsolete":false,"parents":["HP:0010876","HP:0033331"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating amyloid A"},{"scope":"EXACT","text":"Elevated serum amyloid A concentration"},{"scope":"EXACT","text":"Elevated serum amyloid A level"},{"scope":"EXACT","text":"Elevated serum amyloid A level in blood"},{"scope":"EXACT","text":"Increased serum amyloid A concentration"},{"scope":"EXACT","text":"Increased serum amyloid A level"},{"scope":"EXACT","text":"Increased serum amyloid A level in blood"}]} +{"alt_ids":[],"definition":"Limitation of motion of the jaw due to structural changes in a muscle such as the massseter responsible for jaw movement.","id":"HP:0033333","name":"Jaw contracture","obsolete":false,"parents":["HP:0001371","HP:0030791"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly in the development of the embryo, that is, of the early developmental stage of development that follows the fertilization of an egg by sperm.","id":"HP:0033334","name":"Abnormal embryonic development","obsolete":false,"parents":["HP:0001197"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly in the development of the embryo in a stage prior to implantation.","id":"HP:0033335","name":"Abnormal preimplantation embryonic development","obsolete":false,"parents":["HP:0033334"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Failure of a fertilized oocyte to undergo the first round of cell division.","id":"HP:0033336","name":"Zygotic cleavage failure","obsolete":false,"parents":["HP:0033335"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Failure of zygotic cell division"}]} +{"alt_ids":[],"definition":"An anomaly in the process by a a haploid cell is formed from a diploid cells through meiosis. In males, diploid spermatogonia produce two haploid cells (secondary spermatocytes) in meiosis I and four haploid spermatids in meiosis II. In females, primordial germ cells under meiosis II before birth to form primary oocytes. Once puberty cell begins, these cells form secondary oocytes through meiosis II.","id":"HP:0033337","name":"Abnormal gametogenesis","obsolete":false,"parents":["HP:0000080"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anomalous oocyte meiosis","id":"HP:0033338","name":"Abnormal female meiosis","obsolete":false,"parents":["HP:0031515"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of inosine in the blood circulation.","id":"HP:0033339","name":"Increased circulating inosine concentration","obsolete":false,"parents":["HP:0004368"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased concentration of guanosine in the blood circulation.","id":"HP:0033340","name":"Increased circulating guanosine concentration","obsolete":false,"parents":["HP:0004368"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of beta-sitosterol in the blood circulation.","id":"HP:0033341","name":"Elevated circulating sitosterol concentration","obsolete":false,"parents":["HP:0003119"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating beta-sitosterol concentration"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4.","id":"HP:0033342","name":"Anti-aquaporin 4 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-AQP4 antibody positivity"}]} +{"alt_ids":[],"definition":"Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes.","id":"HP:0033343","name":"Mucoid diarrhea","obsolete":false,"parents":["HP:0002014"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mucous diarrhea"},{"scope":"EXACT","text":"Mucous diarrhoea"}]} +{"alt_ids":[],"definition":"A pleural cobblestone appearance characterized by irregular bumps surrounded by depressed lines in open lung biopsy. Caused by underlying scarring causing retraction of the interlobular septa where they insert on the pleura.","id":"HP:0033344","name":"Pleural cobblestoning","obsolete":false,"parents":["HP:0006530"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pain (An unpleasant sensory and emotional experience) along the course of a nerve.","id":"HP:0033345","name":"Neuralgia","obsolete":false,"parents":["HP:0012531"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events.","id":"HP:0033346","name":"Psychic epileptic aura","obsolete":false,"parents":["HP:0033348"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Psychic aura"}]} +{"alt_ids":[],"definition":"A purely subjective manifestation of an epileptic seizure pertaining to altered cognition.","id":"HP:0033347","name":"Cognitive epileptic aura","obsolete":false,"parents":["HP:0033346"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure.","id":"HP:0033348","name":"Epileptic aura","obsolete":false,"parents":["HP:0032679"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognizable by the primary clinician, carer or patient.","id":"HP:0033349","name":"Seizure cluster","obsolete":false,"parents":["HP:0031796"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acute repetitive seizures"},{"scope":"EXACT","text":"Crescendo seizures"},{"scope":"EXACT","text":"Cyclical seizures"},{"scope":"EXACT","text":"Recurrent seizures"},{"scope":"EXACT","text":"Seizure flurries"},{"scope":"EXACT","text":"Serial seizures"}]} +{"alt_ids":[],"definition":"An increase in the amount of air a person can forcefully expel in one second, compared to some standard or previous measure of same subject.","id":"HP:0033350","name":"Elevated forced expiratory volume in one second","obsolete":false,"parents":["HP:0030878"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated FEV1"}]} +{"alt_ids":[],"definition":"Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain.","id":"HP:0033351","name":"Candida esophagitis","obsolete":false,"parents":["HP:0032255","HP:0100633"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Esophageal candidiasis"}]} +{"alt_ids":[],"definition":"Pulmonary hypertensive crisis involves sudden and potentially lethal increases in PAP and PVR that cause acute rise in right atrial and right ventricular end-diastolic pressure accompanied by low cardiac output.","id":"HP:0033352","name":"Pulmonary hypertensive crisis","obsolete":false,"parents":["HP:0004890"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pulmonary arterial hypertension crisis"}]} +{"alt_ids":[],"definition":"Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein).","id":"HP:0033353","name":"Abnormal blood vessel morphology","obsolete":false,"parents":["HP:0025015"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal amount of a metabolite in urine.","id":"HP:0033354","name":"Abnormal urine metabolite level","obsolete":false,"parents":["HP:0003110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased level of deoxypyridinoline in the urine. Deoxypyridinoline is a crosslink product of collagen molecules found in bone and excreted in urine during bone degradation, has been described as a marker of bone turnover.","id":"HP:0033355","name":"Increased urine deoxypyridinoline level","obsolete":false,"parents":["HP:0033384"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urinary DPD"}]} +{"alt_ids":[],"definition":"An abnormally increased level of o-phosphoserine in the blood circulation. o-phosphoserine is a derivative of serine.","id":"HP:0033356","name":"Elevated circulating o-phosphoserine concentration","obsolete":false,"parents":["HP:0033109"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced range of motion turning the head side to side.","id":"HP:0033357","name":"Limited head rotation","obsolete":false,"parents":["HP:0005986"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal range of concentration of particles in urine.","id":"HP:0033358","name":"Abnormal urine osmolality","obsolete":false,"parents":["HP:0003110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally high urinary specific gravity, i.e., increased concentration of solutes in the urine.","id":"HP:0033359","name":"Hyperosthenuria","obsolete":false,"parents":["HP:0033358"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urine osmolality"},{"scope":"EXACT","text":"Elevated urine osmolarity"}]} +{"alt_ids":[],"definition":"A behavioral abnormality whereby a person is unable to move freely from one situation, activity or aspect of aa problem to another as circumstances demand. Key aspects of shifting include the ability to make transitions, problem solve flexibly, switch or alternate attention, and change focus from one mind-set or topic to another. Mild deficits in the ability to shift compromise the efficiency of problem solving, whereas more severe difficulties are reflected in perseverative behaviors. Sometimes this is described as being rigid or inflexible.","id":"HP:0033360","name":"Impaired ability to shift attention","obsolete":false,"parents":["HP:0033051"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Impaired task shifting"}]} +{"alt_ids":[],"definition":"An open sore of the nasal mucosa.","id":"HP:0033361","name":"Nasal ulcer","obsolete":false,"parents":["HP:0000433"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing.","id":"HP:0033362","name":"Recurrent coughing spasms","obsolete":false,"parents":["HP:0012735"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactant plastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult.","id":"HP:0033363","name":"Hyaline membranes","obsolete":false,"parents":["HP:0033137"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A specific form of lung inflammation that results from accumulation of lipids in the alveoli. Lipoid pneumonia can be either exogenous or endogenous in cause based on the source of the lipid.","id":"HP:0033364","name":"Lipoid pneumonia","obsolete":false,"parents":["HP:0006530"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace.","id":"HP:0033365","name":"Endogenous lipoid pneumonia","obsolete":false,"parents":["HP:0033364"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of lipoid pneumonia in which the source of the lipids is external to the body.","id":"HP:0033366","name":"Exogenous lipoid pneumonia","obsolete":false,"parents":["HP:0033364"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Low level of blood oxygen induced by changing from a recumbent to an upright position.","id":"HP:0033367","name":"Orthodeoxia","obsolete":false,"parents":["HP:0012418"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of dyspnea that occurs when the affected person changes from a recumbent to an upright position.","id":"HP:0033368","name":"Platypnea","obsolete":false,"parents":["HP:0002094"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of leukodystrophy characterized by multiple small cavitations typically in the periventricular and deep cerebral white matter. The cavitations are visible as a central cavity with cerebrospinal fluid-like signal intensity.","id":"HP:0033369","name":"Cavitating leukodystrophy","obsolete":false,"parents":["HP:0002415"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Telangiectasias (small dilated blood vessels located near the surface of the skin or mucous membranes) located in the trachoebronchial system.","id":"HP:0033370","name":"Bronchial telangiectasia","obsolete":false,"parents":["HP:0004930","HP:0100579"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Endobronchial telangiectasia"}]} +{"alt_ids":[],"definition":"Granulomatous inflammation that surrounds the bronchi and bronchioles, replacing bronchial walls and mucosa. In bronchocentric granulomatosis, the lumen of the airway contains necrotic debris, and palisaded histiocytes surround the lumen.","id":"HP:0033371","name":"Bronchocentric granulomatosis","obsolete":false,"parents":["HP:0030250"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal range of KCO. The KCO is a measurement of the rate constant for alveolar uptake of CO during breath-holding in the single breath measurement of DLCO at full inflation. The DLCO is derived as the product of the KCO and the single breath alveolar volume (VA) divided by PB-PH2O.","id":"HP:0033372","name":"Abnormal KCO","obsolete":false,"parents":["HP:0030878"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index).","id":"HP:0033373","name":"Increased KCO","obsolete":false,"parents":["HP:0033372"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index).","id":"HP:0033374","name":"Decreased KCO","obsolete":false,"parents":["HP:0033372"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anthracosis is the deposition of black carbon pigment. It is commonly seen in perihilar lymph nodes as well as within lung parenchyma. There can be prominent storiforming (i.e., spiral patterning) of histiocytes, to such an extent as to mimic a neoplastic lesion histologically. Anthracosis is a common finding in smokers and polluted city dwellers.","id":"HP:0033375","name":"Anthracosis","obsolete":false,"parents":["HP:0006530"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased width of the alveolar septum, which is the structure that separates neighboring alveoli. This finding can be appreciated on histology.","id":"HP:0033376","name":"Alveolar septal thickening","obsolete":false,"parents":["HP:0033137"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of increased numbers of bombesin-immuno-positive neuroendocrine cells (NECs) within distal airways. There are no formal criteria for an increase (which is also dependent on the sensitivity of the staining method), findings of neuroendocrine cells in at least 70% of bronchioles by lung biopsy and at least 10% NECs in an individual airway are consistent with the diagnosis of Neuroendocrine cell hyperplasia of infancy in the appropriate clinical setting. Increases are also seen in other clinical settings. Neuroendocrine neoplasms of the lung encompass NE tumors (NETs), which split into typical and atypical carcinoids, and NE carcinomas (NECs).","id":"HP:0033377","name":"Increased airway neuroendocrine cells","obsolete":false,"parents":["HP:0025426"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of increased numbers of bombesin-immuno-positive neuroendocrine cell cluster (neuroepithelial bodies) in the alveolar ducts.","id":"HP:0033378","name":"Increased airway neuroepithelial bodies","obsolete":false,"parents":["HP:0025426"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a left and a right superior vena cava.","id":"HP:0033379","name":"Bilateral superior vena cava","obsolete":false,"parents":["HP:0005301"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bilateral SVC"}]} +{"alt_ids":[],"definition":"Inflammation of the cartilage of the nose.","id":"HP:0033380","name":"Nasal chondritis","obsolete":false,"parents":["HP:0100662","HP:3000034"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nose chondritis"}]} +{"alt_ids":[],"definition":"Abnormally increased concentration of O-stearoylcarnitine in the blood circulation.","id":"HP:0033381","name":"Elevated circulating stearoylcarnitine concentration","obsolete":false,"parents":["HP:0035020"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating C18:0 acylcarnitine concentration"}]} +{"alt_ids":[],"definition":"Abnormally increased concentration of palmitoylcarnitine in the blood circulation.","id":"HP:0033382","name":"Elevated circulating palmitoylcarnitine concentration","obsolete":false,"parents":["HP:0035021"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating 16:0 acylcarnitine concentration"}]} +{"alt_ids":[],"definition":"Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve.","id":"HP:0033383","name":"Decreased compound muscle action potential amplitude","obsolete":false,"parents":["HP:0030179"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased CMAP amplitude"}]} +{"alt_ids":[],"definition":"Increased level in the urine of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease.","id":"HP:0033384","name":"Elevated urinary collagen degradation products","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased amount of pyridinoline in the urine.","id":"HP:0033385","name":"Elevated urine pyridinoline level","obsolete":false,"parents":["HP:0033384"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urine hydroxylysyl-pyridinoline level"}]} +{"alt_ids":[],"definition":"Abnormal concentration in the blood circulation of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease.","id":"HP:0033386","name":"Abnormal circulating collagen degradation product concentration","obsolete":false,"parents":["HP:0430071"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation.","id":"HP:0033387","name":"Elevated circulating pyridinoline concentration","obsolete":false,"parents":["HP:0033386"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural abnormality of a bronchial artery.","id":"HP:0033388","name":"Abnormal bronchial artery morphology","obsolete":false,"parents":["HP:0011004"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal arterial anastomosis (connection) between bronchial and pulmonary arteries.","id":"HP:0033389","name":"Bronchopulmonary anastomosis","obsolete":false,"parents":["HP:0030966","HP:0033388"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm.","id":"HP:0033390","name":"Bronchial artery dilatation","obsolete":false,"parents":["HP:0033388"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bronchial artery enlargement"},{"scope":"EXACT","text":"Dilatation of a bronchial artery"}]} +{"alt_ids":[],"definition":"Increase in the volume of bronchial artery wall due to the enlargement of its component cells.","id":"HP:0033391","name":"Bronchial artery hypertrophy","obsolete":false,"parents":["HP:0033388"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammatory cell infiltration surrounding precapillary pulmonary arteries (arterioles; 20-70 micrometer).","id":"HP:0033392","name":"Perivascular pre-capillary pulmonary artery inflammation","obsolete":false,"parents":["HP:0030966"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Perivascular inflammation of arterioles in the pulmonary circulation"},{"scope":"EXACT","text":"Perivascular inflammation of pre-capillary pulmonary arteries"}]} +{"alt_ids":[],"definition":"Irregular or changing caliber (diameter) along the tail of the sperm.","id":"HP:0033393","name":"Irregularly shaped sperm tail","obsolete":false,"parents":["HP:0012868"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sperm flagella with irregular caliber"},{"scope":"EXACT","text":"Sperm flagella with irregular calibre"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase II.","id":"HP:0033394","name":"Anti-carbonic anhydrase II antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against lactoferrin.","id":"HP:0033395","name":"Antilactoferrin antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina.","id":"HP:0033396","name":"Glomerular extracapillary fibrin","obsolete":false,"parents":["HP:0033312"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space.","id":"HP:0033397","name":"Bowman-space proteinaceous debris","obsolete":false,"parents":["HP:0033312"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deposits of hyalinized collagen fibers in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs).","id":"HP:0033398","name":"Pleural plaque","obsolete":false,"parents":["HP:0002103"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks.","id":"HP:0033399","name":"Persistent fever","obsolete":false,"parents":["HP:0001945"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A sudden onset of abdominal pain with associated nausea or vomiting. The acute abdomen may be caused by an infection, inflammation, vascular occlusion, or obstruction.","id":"HP:0033400","name":"Acute abdomen","obsolete":false,"parents":["HP:0002027"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acute abdominal pain"}]} +{"alt_ids":[],"definition":"Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion.","id":"HP:0033401","name":"Tissue ischemia","obsolete":false,"parents":["HP:0025323"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Restriction of arterial blood supply to a digit (finger or toe) associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis.","id":"HP:0033402","name":"Digital ischemia","obsolete":false,"parents":["HP:0033401"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the tissue. Clinical manifestations may include pain and swelling of the affected testis.","id":"HP:0033403","name":"Testicular ischemia","obsolete":false,"parents":["HP:0033401"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Restriction of arterial blood supply to the intestine associated with insufficient oxygenation to support the metabolic requirements of the tissue. Acute intestinal ischemia can involve the small or large intestine, and usually presents with sudden severe non-specific abdominal pain.","id":"HP:0033404","name":"Intestinal ischemia","obsolete":false,"parents":["HP:0033401"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of organic amino compound in the blood circulation.","id":"HP:0033405","name":"Abnormal circulating organic amino compound concentration","obsolete":false,"parents":["HP:0004364"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal organic amino compound level"}]} +{"alt_ids":[],"definition":"An increased concentration of o-phosphoethanolamine in the blood circulation.","id":"HP:0033406","name":"Elevated circulating phosphoethanolamine concentration","obsolete":false,"parents":["HP:0033405"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating o-phosphoethanolamine concentration"}]} +{"alt_ids":[],"definition":"Elevated amount of acetoacetic acid in the urine.","id":"HP:0033407","name":"Elevated urine acetoacetic acid level","obsolete":false,"parents":["HP:0002919"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased level of acetoacetic acid in the blood circulation. Acetoacetic acid is one of the predominant ketone bodies.","id":"HP:0033408","name":"Elevated circulating acetoacetic acid concentration","obsolete":false,"parents":["HP:0410175"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased amount of 2-hydroxybutyric acid in the urine.","id":"HP:0033409","name":"Elevated urinary 2-hydroxybutyric acid","obsolete":false,"parents":["HP:0033303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of cartilage oligomeric matrix protein in the blood circulation is above the upper limit of normal.","id":"HP:0033410","name":"Elevated circulating cartilage oligomeric matrix protein concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated cartilage oligomeric matrix protein concentration"},{"scope":"EXACT","text":"Elevated cartilage oligomeric matrix protein level"},{"scope":"EXACT","text":"Elevated cartilage oligomeric matrix protein level in blood"},{"scope":"EXACT","text":"Increased cartilage oligomeric matrix protein concentration"},{"scope":"EXACT","text":"Increased cartilage oligomeric matrix protein level"},{"scope":"EXACT","text":"Increased cartilage oligomeric matrix protein level in blood"}]} +{"alt_ids":[],"definition":"Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the lower extremities.","id":"HP:0033411","name":"Lower extremity akinesia","obsolete":false,"parents":["HP:0002304"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the upper extremities.","id":"HP:0033412","name":"Upper extremity akinesia","obsolete":false,"parents":["HP:0002304"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Akinesia of the upper extremities"}]} +{"alt_ids":[],"definition":"Abnormally diminished movement of the upper extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.","id":"HP:0033413","name":"Upper extremity hypokinesia","obsolete":false,"parents":["HP:0002375"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypokinesia of the upper extremities"}]} +{"alt_ids":[],"definition":"Abnormally diminished movement of the lower extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.","id":"HP:0033414","name":"Lower extremity hypokinesia","obsolete":false,"parents":["HP:0002375"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypokinesia of the lower extremities"}]} +{"alt_ids":[],"definition":"The accumulation of pericardial fluid with subsequent compression of all cardiac chambers which prevents cardiac filling.","id":"HP:0033415","name":"Cardiac tamponade","obsolete":false,"parents":["HP:0011025"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced ability to bring the leg toward the midline of the body.","id":"HP:0033416","name":"Hip adductor weakness","obsolete":false,"parents":["HP:0003749"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration in the blood circulation of a hydroxybutyric acid, that is, of a compound comprising a butyric acid core carrying at least one hydroxy substituent.","id":"HP:0033417","name":"Elevated circulating hydroxybutyric acid concentration","obsolete":false,"parents":["HP:0010996"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range.","id":"HP:0033418","name":"Elevated circulating 2-hydroxybutyric acid concentration","obsolete":false,"parents":["HP:0033417"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range.","id":"HP:0033419","name":"Elevated circulating 3-hydroxybutyric acid concentration","obsolete":false,"parents":["HP:0033417"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels.","id":"HP:0033420","name":"Pulmonary arterial plexiform lesion","obsolete":false,"parents":["HP:0030966"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased thickness of the intimal layer of the pulmonary artery. Throughout the pulmonary arterial tree, the thin intima consists of a non-fenestrated monolayer of endothelial cells lining the vessel lumen, as well as a sub-endothelial interstitium that extends to the internal elastic lamina. Intimal thickness in human lung ranges from 1-16% of total wall thickness. Pulmonary artery intimal thickening can be defined as a relative intima thickness to the thickness of the vessel wall of over 10%.","id":"HP:0033421","name":"Pulmonary artery intimal thickening","obsolete":false,"parents":["HP:0030966"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree.","id":"HP:0033422","name":"Pulmonary artery adventitial fibrosis","obsolete":false,"parents":["HP:0030966"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of pulmonary arterial hypertension in which there is a reduction of mean pulmonary artery pressure (mPAP) at least 10 mmHg to reach an absolute value of mPAP not more than 40 mmHg with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm.","id":"HP:0033423","name":"Pulmonary arterial hypertension with positive acute response to NO challenge","obsolete":false,"parents":["HP:0002092"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm).","id":"HP:0033424","name":"Pulmonary arterial hypertension with lack of acute response to NO challenge","obsolete":false,"parents":["HP:0002092"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Erythema (redness of the skin caused by hyperemia in superficial capillaries) in the region surrounding a fingernail or toe nail.","id":"HP:0033425","name":"Periungual erythema","obsolete":false,"parents":["HP:0100803"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Venous air embolism is a consequence of air being introduced into the venous circulation, and subsequently to the right heart, and pulmonary circulation. When small amounts of air reach pulmonary circulation they can be removed by gas diffusion across the arteriolar wall into the alveoli, amounts of gas exceeding 50 ml can cause pulmonary outflow tract obstruction with or without concomitant arterial embolisation.","id":"HP:0033426","name":"Pulmonary air embolism","obsolete":false,"parents":["HP:0002204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Venous air embolism"}]} +{"alt_ids":[],"definition":"Focal accumulation of dilated pulmonary capillaries.","id":"HP:0033427","name":"Pulmonary capillary angioectasia","obsolete":false,"parents":["HP:0004930"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Dysregulation of the innate immune system characterized by systemic pathobiology, i.e., with symptoms that can affect the entire body.","id":"HP:0033428","name":"Systemic autoinflammation","obsolete":false,"parents":["HP:0012649"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain.","id":"HP:0033429","name":"Neuroinflammation","obsolete":false,"parents":["HP:0012649"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines.","id":"HP:0033430","name":"Non-infectious meningitis","obsolete":false,"parents":["HP:0033429"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aseptic meningitis"}]} +{"alt_ids":[],"definition":"Infection and inflammation of the colon caused by cytomegalovirus (CMV) infection that occurs in the context of unusual susceptibility to infection.","id":"HP:0033431","name":"Cytomegalovirus colitis","obsolete":false,"parents":["HP:0033432","HP:5210146","HP:5210182"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CMV colitis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0033432","name":"Opportunistic viral infection","obsolete":false,"parents":["HP:0031690","HP:0034317"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An erosion of the mucous membrane in the region connecting the ileum and cecum.","id":"HP:0033433","name":"Ileocecal ulcer","obsolete":false,"parents":["HP:0001549","HP:0034274"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ileo-cecal ulcer"}]} +{"alt_ids":[],"definition":"A full-thickness defect of the nasal septum.","id":"HP:0033434","name":"Nasal septum perforation","obsolete":false,"parents":["HP:0000419"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nasal-septum perforation"},{"scope":"EXACT","text":"Perforation of the nasal septum"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of a keto acid (also called ketoacid or oxo carboxylic acid) in the blood circulation.","id":"HP:0033435","name":"Abnormal circulating keto acid concentration","obsolete":false,"parents":["HP:0010996"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal oxo carboxylic acid level"}]} +{"alt_ids":[],"definition":"The concentration of 3-methyl-2-oxovaleric acidin the blood circulation is above the upper limit of normal.","id":"HP:0033436","name":"Elevated circulating 3-methyl-2-oxovaleric acid concentration","obsolete":false,"parents":["HP:0033435"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of 4-methyl-2-oxopentanoic acid in the blood circulation is above the upper limit of normal.","id":"HP:0033437","name":"Elevated circulating 4-methyl-2-oxopentanoic acid concentration","obsolete":false,"parents":["HP:0033435"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased circulating alpha-ketoisocaproic acid concentration"}]} +{"alt_ids":[],"definition":"An increased blood concentration of myoglobin.","id":"HP:0033438","name":"Elevated circulating myoglobin concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of decenoylcarnitine in the blood circulation is above the upper limit of normal.","id":"HP:0033439","name":"Elevated circulating decenoylcarnitine concentration","obsolete":false,"parents":["HP:0035017"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating C10:1 acylcarnitine concentration"},{"scope":"EXACT","text":"Elevated circulating O-decenoylcarnitine concentration"},{"scope":"EXACT","text":"Elevated decenoylcarnitine concentration"},{"scope":"EXACT","text":"Elevated decenoylcarnitine level"},{"scope":"EXACT","text":"Elevated decenoylcarnitine level in blood"},{"scope":"EXACT","text":"Elevated plasma decenoylcarnitine, C10:1"},{"scope":"EXACT","text":"Increased decenoylcarnitine concentration"},{"scope":"EXACT","text":"Increased decenoylcarnitine level"},{"scope":"EXACT","text":"Increased decenoylcarnitine level in blood"}]} +{"alt_ids":[],"definition":"The concentration of O-octenoylcarnitine in the blood circulation is above the upper limit of normal.","id":"HP:0033440","name":"Elevated circulating octenoylcarnitine concentration","obsolete":false,"parents":["HP:0035017"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated O-octenoylcarnitine concentration"},{"scope":"EXACT","text":"Elevated O-octenoylcarnitine level"},{"scope":"EXACT","text":"Elevated O-octenoylcarnitine level in blood"},{"scope":"EXACT","text":"Elevated circulating C8:1 acylcarnitine concentration"},{"scope":"EXACT","text":"Elevated circulating O-octenoylcarnitine concentration"},{"scope":"EXACT","text":"Elevated plasma octenoylcarnitine, C8:1"},{"scope":"EXACT","text":"Increased O-octenoylcarnitine concentration"},{"scope":"EXACT","text":"Increased O-octenoylcarnitine level"},{"scope":"EXACT","text":"Increased O-octenoylcarnitine level in blood"}]} +{"alt_ids":[],"definition":"The concentration of hexanoylcarnitine in the blood circulation is above the upper limit of normal.","id":"HP:0033441","name":"Elevated circulating hexanoylcarnitine concentration","obsolete":false,"parents":["HP:0035026"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating C6:0 acylcarnitine concentration"},{"scope":"EXACT","text":"Elevated circulating O-hexanoylcarnitine concentration"},{"scope":"EXACT","text":"Elevated hexanoylcarnitine concentration"},{"scope":"EXACT","text":"Elevated hexanoylcarnitine level"},{"scope":"EXACT","text":"Elevated hexanoylcarnitine level in blood"},{"scope":"EXACT","text":"Elevated plasma hexanoylcarnitine, C6:0"},{"scope":"EXACT","text":"Increased hexanoylcarnitine concentration"},{"scope":"EXACT","text":"Increased hexanoylcarnitine level"},{"scope":"EXACT","text":"Increased hexanoylcarnitine level in blood"}]} +{"alt_ids":[],"definition":"Concentration of glutarylcarnitine in the blood circulation above the upper limit of normal.","id":"HP:0033442","name":"Elevated circulating glutarylcarnitine concentration","obsolete":false,"parents":["HP:0035019"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating C5-DC acylcarnitine concentration"},{"scope":"EXACT","text":"Elevated circulating O-glutarylcarnitine concentration"},{"scope":"EXACT","text":"Elevated plasma glutarylcarnitine, C5-DC"}]} +{"alt_ids":[],"definition":"The concentration of propionylcarnitine in the blood circulation is above the upper limit of normal.","id":"HP:0033443","name":"Elevated circulating propionylcarnitine concentration","obsolete":false,"parents":["HP:0035015"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated C3 acylcarnitine"},{"scope":"EXACT","text":"Elevated circulating O-propanoylcarnitine concentration"},{"scope":"EXACT","text":"Elevated propionylcarnitine concentration"},{"scope":"EXACT","text":"Elevated propionylcarnitine level"},{"scope":"EXACT","text":"Elevated propionylcarnitine level in blood"},{"scope":"EXACT","text":"Increased propionylcarnitine concentration"},{"scope":"EXACT","text":"Increased propionylcarnitine level"},{"scope":"EXACT","text":"Increased propionylcarnitine level in blood"}]} +{"alt_ids":[],"definition":"Concentration of dodecanoylcarnitine (C12:0) in the blood circulation above the upper limit of normal.","id":"HP:0033444","name":"Elevated circulating dodecanoylcarnitine concentration","obsolete":false,"parents":["HP:0430143"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating O-dodecanoylcarnitine concentration"},{"scope":"EXACT","text":"Elevated plasma dodecanoylcarnitine, C12:0"}]} +{"alt_ids":[],"definition":"The concentration of fatty acylcarnitine in the blood circulation is below the lower limit of normal.","id":"HP:0033445","name":"Decreased circulating fatty acylcarnitine concentration","obsolete":false,"parents":["HP:0012071"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased fatty acylcarnitine concentration"},{"scope":"EXACT","text":"Decreased fatty acylcarnitine level"},{"scope":"EXACT","text":"Decreased fatty acylcarnitine level in blood"},{"scope":"EXACT","text":"Reduced fatty acylcarnitine concentration"},{"scope":"EXACT","text":"Reduced fatty acylcarnitine level"},{"scope":"EXACT","text":"Reduced fatty acylcarnitine level in blood"}]} +{"alt_ids":[],"definition":"Concentration of O-butyrylcarnitine in the blood circulation above the upper limit of normal.","id":"HP:0033446","name":"Elevated circulating butyrylcarnitine concentration","obsolete":false,"parents":["HP:0035016"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating O-butyrylcarnitine concentration"}]} +{"alt_ids":[],"definition":"Concentration of O-isovalerylcarnitine in the blood circulation above the upper limit of normal.","id":"HP:0033447","name":"Elevated circulating isovalerylcarnitine concentration","obsolete":false,"parents":["HP:0035019"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating O-isovalerylcarnitine concentration"}]} +{"alt_ids":[],"definition":"Elevation of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children.","id":"HP:0033448","name":"Increased mid-arm muscle circumference","obsolete":false,"parents":["HP:0001457"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduction of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children.","id":"HP:0033449","name":"Decreased mid-arm muscle circumference","obsolete":false,"parents":["HP:0001457"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of prealbumin in the blood circulation.","id":"HP:0033450","name":"Abnormal circulating prealbumin concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal transthyretin level"}]} +{"alt_ids":[],"definition":"The concentration of prealbumin in the blood circulation is above the upper limit of normal.","id":"HP:0033451","name":"Elevated circulating prealbumin concentration","obsolete":false,"parents":["HP:0033450"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated transthyretin concentration"},{"scope":"EXACT","text":"Elevated transthyretin level"},{"scope":"EXACT","text":"Elevated transthyretin level in blood"},{"scope":"EXACT","text":"Increased transthyretin concentration"},{"scope":"EXACT","text":"Increased transthyretin level"},{"scope":"EXACT","text":"Increased transthyretin level in blood"}]} +{"alt_ids":[],"definition":null,"id":"HP:0033452","name":"obsolete Decreased circulating prealbumin concentration","obsolete":true,"parents":[],"replaced_by":["HP:0031085"],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced ability to move the head back towards the ceiling so that one is looking upwards.","id":"HP:0033453","name":"Limited neck extension","obsolete":false,"parents":["HP:0005986"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Feeding problem necessitating food and nutrient delivery via a tube.","id":"HP:0033454","name":"Tube feeding","obsolete":false,"parents":["HP:0011968"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0033455","name":"obsolete Elevated urinary dicarboxylic acid level","obsolete":true,"parents":[],"replaced_by":["HP:0003215"],"synonyms":[]} +{"alt_ids":[],"definition":"Increased amount of a keta acid in the urine.","id":"HP:0033456","name":"Elevated urine keto acid level","obsolete":false,"parents":["HP:0033303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased amount of 3-methyl-2-oxovaleric acid in the urine.","id":"HP:0033457","name":"Elevated urine 3-methyl-2-oxovaleric acid level","obsolete":false,"parents":["HP:0033456"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased amount of 4-methyl-2-oxopentanoic acid in the urine.","id":"HP:0033458","name":"Elevated urine 4-methyl-2-oxopentanoic acid level","obsolete":false,"parents":["HP:0033456"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased urine alpha-ketoisocaproic acid level"}]} +{"alt_ids":[],"definition":"The concentration of apolipoprotein in the blood circulation is below the lower limit of normal.","id":"HP:0033459","name":"Decreased circulating apolipoprotein concentration","obsolete":false,"parents":["HP:0025201"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased apolipoprotein concentration"},{"scope":"EXACT","text":"Decreased apolipoprotein level"},{"scope":"EXACT","text":"Decreased apolipoprotein level in blood"},{"scope":"EXACT","text":"Reduced apolipoprotein concentration"},{"scope":"EXACT","text":"Reduced apolipoprotein level"},{"scope":"EXACT","text":"Reduced apolipoprotein level in blood"}]} +{"alt_ids":[],"definition":"The concentration of apolipoprotein in the blood circulation is above the upper limit of normal.","id":"HP:0033460","name":"Elevated circulating apolipoprotein concentration","obsolete":false,"parents":["HP:0025201"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated apolipoprotein concentration"},{"scope":"EXACT","text":"Elevated apolipoprotein level"},{"scope":"EXACT","text":"Elevated apolipoprotein level in blood"},{"scope":"EXACT","text":"Increased apolipoprotein concentration"},{"scope":"EXACT","text":"Increased apolipoprotein level"},{"scope":"EXACT","text":"Increased apolipoprotein level in blood"}]} +{"alt_ids":[],"definition":"Increased concentration of 3-hydroxylinoleylcarnitine in the blood circulation.","id":"HP:0033461","name":"Elevated circulating 3-hydroxylinoleylcarnitine concentration","obsolete":false,"parents":["HP:0035020"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated plasma 3-OH-Linoleylcarnitine, C18:1-OH"}]} +{"alt_ids":[],"definition":"Increased concentration of oleylcarnitine in the blood circulation.","id":"HP:0033462","name":"Elevated circulating oleylcarnitine concentration","obsolete":false,"parents":["HP:0035020"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating C18:1 acylcarnitine concentration"},{"scope":"EXACT","text":"Elevated plasma oleylcarnitine, C18:1"}]} +{"alt_ids":[],"definition":null,"id":"HP:0033463","name":"obsolete Elevated circulating palmitoleylcarnitine concentration","obsolete":true,"parents":[],"replaced_by":["HP:0031544"],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation above the upper limit of normal.","id":"HP:0033464","name":"Elevated circulating 3-hydroxypalmitoleylcarnitine concentration","obsolete":false,"parents":["HP:0035021"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating 3-OH-palmitoleylcarnitine concentration"},{"scope":"EXACT","text":"Elevated plasma 3-OH-Palmitoleylcarnitine, C16:1-OH"}]} +{"alt_ids":[],"definition":"The concentration of tetradecanoylcarnitine in the blood circulation is above the upper limit of normal.","id":"HP:0033465","name":"Elevated circulating tetradecanoylcarnitine concentration","obsolete":false,"parents":["HP:0035018"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating C14 carnitine concentration"},{"scope":"EXACT","text":"Elevated circulating O-tetradecanoylcarnitine concentration"},{"scope":"EXACT","text":"Elevated circulating myristoylcarnitine concentration"},{"scope":"EXACT","text":"Elevated tetradecanoylcarnitine concentration"},{"scope":"EXACT","text":"Elevated tetradecanoylcarnitine level"},{"scope":"EXACT","text":"Elevated tetradecanoylcarnitine level in blood"},{"scope":"EXACT","text":"Increased tetradecanoylcarnitine concentration"},{"scope":"EXACT","text":"Increased tetradecanoylcarnitine level"},{"scope":"EXACT","text":"Increased tetradecanoylcarnitine level in blood"}]} +{"alt_ids":[],"definition":"Reduced grip strength. Gripping is the motion by which the hand tightly grasps an object or other hand.","id":"HP:0033466","name":"Weak grip","obsolete":false,"parents":["HP:0030237"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A normal APGAR score can be coded as 'not Low 10-minute APGAR score'.","id":"HP:0033467","name":"Low 10-minute APGAR score","obsolete":false,"parents":["HP:0030917"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0033468","name":"10-minute APGAR score of 0","obsolete":false,"parents":["HP:0033467"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0033469","name":"10-minute APGAR score of 1","obsolete":false,"parents":["HP:0033467"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0033470","name":"10-minute APGAR score of 2","obsolete":false,"parents":["HP:0033467"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0033471","name":"10-minute APGAR score of 3","obsolete":false,"parents":["HP:0033467"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0033472","name":"10-minute APGAR score of 4","obsolete":false,"parents":["HP:0033467"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0033473","name":"10-minute APGAR score of 5","obsolete":false,"parents":["HP:0033467"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0033474","name":"10-minute APGAR score of 6","obsolete":false,"parents":["HP:0033467"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased ability to move the arm away from the midline of the body.","id":"HP:0033475","name":"Limited shoulder abduction","obsolete":false,"parents":["HP:0006467"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the serum that react against extractable nuclear components that are referred to as extractable because they can be extracted from cell nuclei with saline solution.","id":"HP:0033476","name":"Extractable nuclear antigen positivity","obsolete":false,"parents":["HP:0003493"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal concentration of lipoprotein lipase in the blood circulation.","id":"HP:0033477","name":"Abnormal circulating lipoprotein lipase concentration","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased concentration of lipoprotein lipase in the blood circulation.","id":"HP:0033478","name":"Increased circulating lipoprotein lipase concentration","obsolete":false,"parents":["HP:0033477"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated lipoprotein lipase level"}]} +{"alt_ids":[],"definition":null,"id":"HP:0033479","name":"Abnormal circulating bilirubin concentration","obsolete":false,"parents":["HP:0010995"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of bilirubin in the blood circulation below the lower limit of normal.","id":"HP:0033480","name":"Hypobilirubinemia","obsolete":false,"parents":["HP:0033479"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced range of motion resulting in decreased ability to move the ear toward the top of the shoulder.","id":"HP:0033481","name":"Limited lateral neck flexion","obsolete":false,"parents":["HP:0005986"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced ability to flex the shoulder. Shoulder flexion is the motion that moves the arms from a resting position by the side of the body to a position above the head.","id":"HP:0033482","name":"Limited shoulder flexion","obsolete":false,"parents":["HP:0006467"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM.","id":"HP:0033483","name":"Podocyte infolding","obsolete":false,"parents":["HP:0031265"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased concentration of linoleylcarnitine in the blood circulation.","id":"HP:0033484","name":"Elevated circulating linoleylcarnitine concentration","obsolete":false,"parents":["HP:0035020"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating C18:2 acylcarnitine concentration"},{"scope":"EXACT","text":"Elevated plasma linoleylcarnitine, C18:2"}]} +{"alt_ids":[],"definition":"A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver.","id":"HP:0033485","name":"Glomerular basement membrane disruption","obsolete":false,"parents":["HP:0033282"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disruption of the glomerular basement membrane"},{"scope":"EXACT","text":"Glomerular basement membrane rupture"}]} +{"alt_ids":[],"definition":"Anomalous appearance or structure of the surface of the glomerular basement membrane.","id":"HP:0033486","name":"Abnormal glomerular basement membrane texture","obsolete":false,"parents":["HP:0033282"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane.","id":"HP:0033487","name":"Glomerular basement membranes powdery deposit","obsolete":false,"parents":["HP:0033486"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Glomerular basement membranes with powdery deposit"}]} +{"alt_ids":[],"definition":"Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries.","id":"HP:0033488","name":"Glomerular endocapillary leukocyte hypercellularity","obsolete":false,"parents":["HP:0025363"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Glomerular endocapillary hypercellularity consisting of leukocytes"}]} +{"alt_ids":[],"definition":"Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries.","id":"HP:0033489","name":"Glomerular endocapillary neutrophil hypercellularity","obsolete":false,"parents":["HP:0033488"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space.","id":"HP:0033490","name":"Glomerular endocapillary foam-cell hypercellularity","obsolete":false,"parents":["HP:0033488"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity).","id":"HP:0033491","name":"Global mesangial sclerosis","obsolete":false,"parents":["HP:0033232"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte.","id":"HP:0033492","name":"Podocyte cytoskeletal condensation","obsolete":false,"parents":["HP:0031265"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas.","id":"HP:0033493","name":"Mesangial matrix expansion","obsolete":false,"parents":["HP:0033232"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased glomerular mesangial matrix"}]} +{"alt_ids":[],"definition":"Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains.","id":"HP:0033494","name":"Glomerular basement membrane amyloid spicule","obsolete":false,"parents":["HP:0033282"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule.","id":"HP:0033495","name":"Segmental glomerulosclerosis","obsolete":false,"parents":["HP:0000096"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule.","id":"HP:0033496","name":"Perihilar segmental glomerulosclerosis","obsolete":false,"parents":["HP:0033495"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Segmental glomerulosclerosis, perihilar pattern"}]} +{"alt_ids":[],"definition":"Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed.","id":"HP:0033497","name":"Tip variant segmental glomerulosclerosis","obsolete":false,"parents":["HP:0033495"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Segmental glomerulosclerosis, tip variant"}]} +{"alt_ids":[],"definition":"Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neither the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed.","id":"HP:0033498","name":"Segmental glomerulosclerosis away from the vascular and tubular poles","obsolete":false,"parents":["HP:0033495"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Electron-dense deposits in the lamina densa with a ribbon or a sausage structure.","id":"HP:0033499","name":"Glomerular basement membrane electron dense deposits","obsolete":false,"parents":["HP:0033282"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect.","id":"HP:0033500","name":"Subendothelial glomerular basement membrane electron dense deposits","obsolete":false,"parents":["HP:0033499"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Prominent glomerular basement membrane (GBM) reflecting a diffuse and relatively uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM.","id":"HP:0033501","name":"Subepithelial glomerular basement membrane electron dense deposits","obsolete":false,"parents":["HP:0033499"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.","id":"HP:0033502","name":"Abnormal esterified to free carnitine ratio","obsolete":false,"parents":["HP:0012071"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid.","id":"HP:0033503","name":"Elevated CSF fumarate concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of fumarate, an intermediate in the citric acid cycle, in the blood circulation.","id":"HP:0033504","name":"Elevated circulating fumarate concentration","obsolete":false,"parents":["HP:0010995"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension.","id":"HP:0033505","name":"Livedo reticularis","obsolete":false,"parents":["HP:0033832"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevated ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.","id":"HP:0033506","name":"Increased esterified to free carnitine ratio","obsolete":false,"parents":["HP:0033502"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.","id":"HP:0033507","name":"Decreased esterified to free carnitine ratio","obsolete":false,"parents":["HP:0033502"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the meninges related to infection by Epstein-Barr virus.","id":"HP:0033508","name":"EBV meningitis","obsolete":false,"parents":["HP:0031691","HP:5210216"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Epstein-Barr virus meningitis"}]} +{"alt_ids":[],"definition":"Inflammation of the brain related to infection by Epstein-Barr virus.","id":"HP:0033509","name":"EBV encephalitis","obsolete":false,"parents":["HP:0033993"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Epstein-Barr virus encephalitis"}]} +{"alt_ids":[],"definition":"A cutaneous horn is a keratinized non-malignant protrusion on the surface of the skin. Diagnosis is established by biopsy of the horn and biopsy of the horn and the underlying skin.","id":"HP:0033510","name":"Cutaneous horn","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cornu cutaneum"}]} +{"alt_ids":[],"definition":"Chronic compulsive drug seeking and continued use despite harmful consequences.","id":"HP:0033511","name":"Addictive substance use","obsolete":false,"parents":["HP:0030858"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Addictive drug use"},{"scope":"EXACT","text":"Drug addiction"}]} +{"alt_ids":[],"definition":"Addiction to a stimulant drug is defined as a drug that typically increases alertness, attention, and energy while also elevating blood pressure, heart rate, and breathing.","id":"HP:0033512","name":"Addictive stimulant use","obsolete":false,"parents":["HP:0033511"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Stimulant addiction"},{"scope":"EXACT","text":"Stimulant dependence"}]} +{"alt_ids":[],"definition":"Addiction to cocaine.","id":"HP:0033513","name":"Addictive cocaine use","obsolete":false,"parents":["HP:0033512"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cocaine addiction"},{"scope":"EXACT","text":"Cocaine dependence"}]} +{"alt_ids":[],"definition":"Addiction to amphetamine or dextroamphetamine is a serious concern.","id":"HP:0033514","name":"Addictive amphetamine use","obsolete":false,"parents":["HP:0033512"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Amphetamine addiction"},{"scope":"EXACT","text":"Amphetamine dependence"},{"scope":"EXACT","text":"Dextroamphetamine addiction"},{"scope":"EXACT","text":"Dextroamphetamine dependence"}]} +{"alt_ids":[],"definition":"Addiction to opioids.","id":"HP:0033515","name":"Addictive opioid use","obsolete":false,"parents":["HP:0033511"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Opioid addiction"},{"scope":"EXACT","text":"Opioid dependence"}]} +{"alt_ids":[],"definition":"Addiction to a benzodiazepine.","id":"HP:0033516","name":"Addictive benzodiazepine use","obsolete":false,"parents":["HP:5200331"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Benzodiazepine dependence"}]} +{"alt_ids":[],"definition":"Addiction to heroin.","id":"HP:0033517","name":"Addictive heroin use","obsolete":false,"parents":["HP:0033515"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Heroin addiction"},{"scope":"EXACT","text":"Heroin dependence"}]} +{"alt_ids":[],"definition":"Addiction to methylphenidate.","id":"HP:0033518","name":"Addictive methylphenidate use","obsolete":false,"parents":["HP:0033512"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Methylphenidate addiction"},{"scope":"EXACT","text":"Methylphenidate dependence"}]} +{"alt_ids":[],"definition":"Addiction to methamphetamine.","id":"HP:0033519","name":"Addictive methamphetamine use","obsolete":false,"parents":["HP:0033512"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Methamphetamine addiction"},{"scope":"EXACT","text":"Methamphetamine dependence"}]} +{"alt_ids":[],"definition":"Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation.","id":"HP:0033520","name":"Paradoxical embolism","obsolete":false,"parents":["HP:0001907"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A lack of humidification of the nasal mucosa.","id":"HP:0033521","name":"Nasal dryness","obsolete":false,"parents":["HP:0000433"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries.","id":"HP:0033522","name":"Cerebral cavernous malformation","obsolete":false,"parents":["HP:0001048","HP:0100659"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the part of the sperm flagellum that is distal to the sperm midpiece and mitochondrial sheath and which leads into the end piece.","id":"HP:0033523","name":"Abnormal sperm principal piece morphology","obsolete":false,"parents":["HP:0012868"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC.","id":"HP:0033524","name":"Abnormal sperm axoneme morphology","obsolete":false,"parents":["HP:0012864"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern.","id":"HP:0033525","name":"Absent sperm axoneme central pair complex","obsolete":false,"parents":["HP:0033524"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent central pair complex (9+0 pattern)"}]} +{"alt_ids":[],"definition":"Reduced ability to move the foot up toward the shin.","id":"HP:0033526","name":"Limited ankle dorsiflexion","obsolete":false,"parents":["HP:0010505"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Heel cord tightness"},{"scope":"EXACT","text":"Tight heel cord"}]} +{"alt_ids":[],"definition":"A reduced amount of testosterone relative in androstenedione in the blood circulation following administration of hCG (Human Chorionic Gonadotropin).","id":"HP:0033527","name":"Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio","obsolete":false,"parents":["HP:0030347"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased plasma testosterone-to-androstenedione ratio"}]} +{"alt_ids":[],"definition":"A deviation from normal Cardiac output, which is defined as the amount of blood pumped by the heart minute and is the mechanism whereby blood flows around the body, especially providing blood flow to the brain and other vital organs.","id":"HP:0033528","name":"Abnormal cardiac output","obsolete":false,"parents":["HP:0011028"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area.","id":"HP:0033529","name":"Abnormal cardiac index","obsolete":false,"parents":["HP:0033528"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevated cardiac index, defined as cardiac output divided by body surface area.","id":"HP:0033530","name":"Increased cardiac index","obsolete":false,"parents":["HP:0033529"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced cardiac index, defined as cardiac output divided by body surface area.","id":"HP:0033531","name":"Decreased cardiac index","obsolete":false,"parents":["HP:0033529"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A decreased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat.","id":"HP:0033532","name":"Decreased cardiac output","obsolete":false,"parents":["HP:0033528"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat.","id":"HP:0033533","name":"Increased cardiac output","obsolete":false,"parents":["HP:0033528"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of brain natriuretic peptide in the blood circulation.","id":"HP:0033534","name":"Increased circulating brain natriuretic peptide concentration","obsolete":false,"parents":["HP:0031138"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating BNP concentration"},{"scope":"EXACT","text":"Increased B-type natriuretic peptide"},{"scope":"EXACT","text":"Increased ventricular natriuretic peptide"}]} +{"alt_ids":[],"definition":"Decreased number of platelet dense granules, a type of platelet organelle.","id":"HP:0033535","name":"Reduced platelet dense granules","obsolete":false,"parents":["HP:0012530"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced number of platelet alpha granules.","id":"HP:0033536","name":"Reduced platelet alpha granules","obsolete":false,"parents":["HP:0012528"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging.","id":"HP:0033537","name":"Mosaic pulmonary attenuation pattern","obsolete":false,"parents":["HP:0025389"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pathological deposition of calcium salts in the aortic annulus, a fibrous ring-like structure found at the insertion point of the basal attachments of the aortic valve leaflets within the left ventricular outflow tract.","id":"HP:0033538","name":"Aortic annulus calcification","obsolete":false,"parents":["HP:0004380"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aortic annular calcification"}]} +{"alt_ids":[],"definition":"A reticular pattern of linear or lineonodular densities in apical portions of both the right and left lungs seen initially on high-resolution computed tomography and in case of progression also on standard chest x-ray.","id":"HP:0033539","name":"Bilateral apical pulmonary fibrosis","obsolete":false,"parents":["HP:0002206"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Airflow obstruction with a significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL.","id":"HP:0033540","name":"Reversible airflow obstruction","obsolete":false,"parents":["HP:0006536"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reversible pulmonary obstruction"}]} +{"alt_ids":[],"definition":"Airflow obstruction without significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL.","id":"HP:0033541","name":"Irreversible airflow obstruction","obsolete":false,"parents":["HP:0006536"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irreversible pulmonary obstruction"}]} +{"alt_ids":[],"definition":"Radiological appearance of increased density around the walls of a bronchus or large bronchiole. This feature is thought to be related to edema involving the bronchial wall as well as the peribronchial interstitial space. If the cross section of a bronchus is captured in a radiograph or computed tomography image, it is said to have the appearance of a donut because of the central lucency representing the airway of the bronchus surrounded by a circular region of increased density.","id":"HP:0033542","name":"Bronchial wall thickening","obsolete":false,"parents":["HP:0025426"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Peribronchial cuffing"},{"scope":"EXACT","text":"Peribronchial thickening"}]} +{"alt_ids":[],"definition":"Nicotine addiction can be defined as a chronic, compulsive craving for nicotine and continued usage despite harmful consequences.","id":"HP:0033543","name":"Addictive nicotine use","obsolete":false,"parents":["HP:0033511"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Addictive tobacco use"},{"scope":"EXACT","text":"Nicotine dependence"}]} +{"alt_ids":[],"definition":"Extracellular mesangial accumulation of slender proteinaceous fibers.","id":"HP:0033544","name":"Mesangial fibril deposition","obsolete":false,"parents":["HP:0001966"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material.","id":"HP:0033545","name":"Mesangial fibrillary deposits","obsolete":false,"parents":["HP:0033544"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins.","id":"HP:0033546","name":"Mesangial microfibril deposition","obsolete":false,"parents":["HP:0033544"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Extracellular mesangial aggregates composed of non-branching fibrils, focally parallel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination.","id":"HP:0033547","name":"Mesangial immunotactoid deposits","obsolete":false,"parents":["HP:0033544"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass.","id":"HP:0033548","name":"Mesangial amyloid deposition","obsolete":false,"parents":["HP:0033544"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei.","id":"HP:0033549","name":"Nodular mesangiosclerosis","obsolete":false,"parents":["HP:0033232"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A granuloma that is associated with necrotic changes. Caseation necrosis is defined as a region in granulomas with eosinophilic, granular and cheese-like cellular debris with necrosis. The word caseous itself means pertaining or related to cheese, and comes from the Latin word caseus, meaning cheese.","id":"HP:0033550","name":"Necrotizing pulmonary granulomatosis","obsolete":false,"parents":["HP:0030250","HP:5210339"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Caseating pulmonary granulomatosis"}]} +{"alt_ids":[],"definition":"A granuloma located in the lung that is not associated with necrotic changes.","id":"HP:0033551","name":"Non-necrotizing pulmonary granulomatosis","obsolete":false,"parents":["HP:0030250","HP:5210340"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Non-caseating pulmonary granulomatosis"}]} +{"alt_ids":[],"definition":"Villitis of unknown etiology (synonymous with villitis of unknown etiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis.","id":"HP:0033552","name":"Chronic villitis","obsolete":false,"parents":["HP:0011409"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic villitis (non-infectious)"},{"scope":"EXACT","text":"Nonspecific chronic villitis"},{"scope":"EXACT","text":"Villitis of unknown aetiology"},{"scope":"EXACT","text":"Villitis of unknown etiology"}]} +{"alt_ids":[],"definition":"Embolization of intravascular thrombus containing microorganisms into the distant tissues via arterial system.","id":"HP:0033553","name":"Septic embolism","obsolete":false,"parents":["HP:0001907"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Septic emboli"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen.","id":"HP:0033554","name":"Anti-Mi2 antibody positivity","obsolete":false,"parents":["HP:0003493"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens.","id":"HP:0033555","name":"Anti-Ro/SS-A antibody positivity","obsolete":false,"parents":["HP:0033476"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-Ro/SSA antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62.","id":"HP:0033556","name":"Anti-nucleoporin 62 antibody positivity","obsolete":false,"parents":["HP:0003493"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-p62 antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the blood circulation that react against proteinase 3. Proteinase 3 (PR3) antigen is a 29-kD serine protease that exists as a protein triplet in human neutrophils","id":"HP:0033557","name":"Anti-proteinase 3 antibody positivity","obsolete":false,"parents":["HP:0032230"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-PR3 antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the blood circulation that react against histone antigens.","id":"HP:0033558","name":"Anti-histone antibody positivity","obsolete":false,"parents":["HP:0020359"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the blood circulation that react against myeloperoxidase.","id":"HP:0033559","name":"Anti-myeloperoxidase antibody positivity","obsolete":false,"parents":["HP:0032229"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-MPO antibody positivity"},{"scope":"EXACT","text":"Anti-myeloperoxidase specific antineutrophil cytoplasmic antibody"},{"scope":"EXACT","text":"MPO-ANCA"}]} +{"alt_ids":[],"definition":"Anti-PM-Scl antibodies target components of RNA-processing exosome complex in the nucleolus. There are ten proteins in this complex and antibodies to eight of them are found at varying frequencies; PM/Scl-100, PM/Scl-75, hRrp4, hRrp42, hRrp46, hCs14, hRrp41, and hRrp40.","id":"HP:0033560","name":"Anti-PM-Scl antibody positivity","obsolete":false,"parents":["HP:0003493"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-PM/Scl antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. BPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies.","id":"HP:0033561","name":"Anti-bactericidal/permeability-increasing protein antibody positivity","obsolete":false,"parents":["HP:0032230"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-BPI antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210.","id":"HP:0033562","name":"Anti-glycoprotein-210 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-gp210 antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against tissue transglutaminase.","id":"HP:0033563","name":"Anti-tissue transglutaminase antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-tTG antibody positivity"}]} +{"alt_ids":[],"definition":"Stasis dermatitis commonly occurs in older age. It is caused by venous hypertension resulting from retrograde flow due to incompetent venous valves, valve destruction, or obstruction of the venous system. Further tissue changes arise from an inflammatory process mediated by metalloproteinases, which are up-regulated by ferric ion from extravasated red blood cells. Stasis dermatitis presents initially as poorly demarcated erythematous plaques of the lower legs bilaterally, classically involving the medial malleolus.","id":"HP:0033564","name":"Stasis dermatitis","obsolete":false,"parents":["HP:0000964"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Varicose eczema"},{"scope":"EXACT","text":"Venous eczema"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against epidermal transglutaminase.","id":"HP:0033565","name":"Anti-epidermal transglutaminase antibody positivity","obsolete":false,"parents":["HP:0033563"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-TG3 antibody"},{"scope":"EXACT","text":"Anti-eTG antibody positivity"},{"scope":"EXACT","text":"Anti-epidermal transglutaminase (anti-eTG) antibody"},{"scope":"EXACT","text":"Anti-keratinocyte transglutaminase"}]} +{"alt_ids":[],"definition":"Any deviation from the normal direction of the ventricular axis. The left ventricle makes up most of the heart muscle under normal circumstances and therefore generates the most electrical force visible on the EKG. The normal ventricular axis is directed downward and slightly towards the left. The ventricular axis can be determined by analyzing the QRS complex, which represents ventricular depolarization.","id":"HP:0033566","name":"Abnormal ventricular axis","obsolete":false,"parents":["HP:0003115"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal QRS axis"}]} +{"alt_ids":[],"definition":"A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used.","id":"HP:0033567","name":"Right axis deviation","obsolete":false,"parents":["HP:0033566"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Electrical right axis deviation"},{"scope":"EXACT","text":"RAD"}]} +{"alt_ids":[],"definition":"A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees.","id":"HP:0033568","name":"Left axis deviation","obsolete":false,"parents":["HP:0033566"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Electrical left axis deviation"}]} +{"alt_ids":[],"definition":"A kind of abnormal ventricular axis in the EKG whereby the QRS axis fall sbetween -90 degrees and 180 degrees. In this case, the ventricular vector is directed upward and to the right.","id":"HP:0033569","name":"Extreme axis deviation","obsolete":false,"parents":["HP:0033566"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A kind of abnormal ventricular axis in the EKG whereby the QRS complex is isoelectric or equiphasic in all leads with no dominant QRS deflection.","id":"HP:0033570","name":"Indeterminate ventricular axis","obsolete":false,"parents":["HP:0033566"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of small, tortuous, micronodular, serpiginous intrapulmonary vessels often in the subpleural lung or in proximity to centrilobular arterioles, coursing in directions inconsistent with known arteriolar anatomy.","id":"HP:0033571","name":"Peripheral lung neovascularity","obsolete":false,"parents":["HP:0004930"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the blood circulation that react against histone H1.","id":"HP:0033572","name":"Anti-H1 antibody positivity","obsolete":false,"parents":["HP:0033558"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the blood circulation that react against histone H4.","id":"HP:0033573","name":"Anti-H4 antibody positivity","obsolete":false,"parents":["HP:0033558"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the blood circulation that react against histone H3.","id":"HP:0033574","name":"Anti-H3 antibody positivity","obsolete":false,"parents":["HP:0033558"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the blood circulation that react against histone H2A.","id":"HP:0033575","name":"Anti-H2A antibody positivity","obsolete":false,"parents":["HP:0033558"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the blood circulation that react against histone H2B.","id":"HP:0033576","name":"Anti-H2B antibody positivity","obsolete":false,"parents":["HP:0033558"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Localized thrombosis in pulmonary arteries frequently found in patients with idiopathic and hereditary pulmonary arterial hypertension and pulmonary arterial hypertension associated with congenital heart disease.","id":"HP:0033577","name":"In situ pulmonary artery thrombosis","obsolete":false,"parents":["HP:0030966"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pre-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg).","id":"HP:0033578","name":"Pre-capillary pulmonary hypertension","obsolete":false,"parents":["HP:0004890"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Precapillary pulmonary hypertension"}]} +{"alt_ids":[],"definition":"Insufficient growth hormone secretion following administration of growth hormone-releasing hormone.","id":"HP:0033579","name":"Decreased growth hormone responses to growth hormone-releasing hormone challenge","obsolete":false,"parents":["HP:0000824"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Impaired growth hormone secretory responses after growth hormone-releasing hormone challenge"}]} +{"alt_ids":[],"definition":"An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibers in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fiber action potentials. The shortest latency of the CMAP is the time from stimulus artifact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV).","id":"HP:0033580","name":"Compound motor action potential abnormality","obsolete":false,"parents":["HP:0040131"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases.","id":"HP:0033581","name":"Absent peripheral lymph nodes in presence of infection","obsolete":false,"parents":["HP:0002733"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal accumulation of lymphocytes in the interstitium of the lung.","id":"HP:0033582","name":"Pulmonary interstitial lymphocyte infiltration","obsolete":false,"parents":["HP:0006530"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Follicular bronchiolitis is a polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the is characterized by the development of lymphoid follicles with germinal centers in walls of the small airways.","id":"HP:0033583","name":"Follicular bronchiolitis","obsolete":false,"parents":["HP:0033582"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Temporally uniform (all lesions are in the same stage of evolution) pattern of diffuse inflammatory interstitial process, mostly symmetric over the entire lung, involving mainly the alveolar septa.","id":"HP:0033584","name":"Nonspecific interstitial pneumonia","obsolete":false,"parents":["HP:0006515"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"NSIP"},{"scope":"EXACT","text":"Nonspecific interstitial pneumonitis"},{"scope":"EXACT","text":"Temporally uniform pulmonary inflammation"}]} +{"alt_ids":[],"definition":"A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation.","id":"HP:0033585","name":"Fibrotic non-specific interstitial pneumonia","obsolete":false,"parents":["HP:0033584"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of non-specific interstitial pneumonia in which interstitial thickening is mainly due to infiltration of inflammatory cells and type II pneumocyte hyperplasia.","id":"HP:0033586","name":"Cellular non-specific interstitial pneumonia","obsolete":false,"parents":["HP:0033584"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A circumscribed area of pus or necrotic debris in the vulvar region.","id":"HP:0033587","name":"Vulvar abscess","obsolete":false,"parents":["HP:0025615"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline.","id":"HP:0033588","name":"Labial adhesion","obsolete":false,"parents":["HP:0012881"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Labial agglutination"},{"scope":"EXACT","text":"Synechia vulvae"}]} +{"alt_ids":[],"definition":"Passage of excessive amounts of gas and the feeling of abdominal fullness and bloating.","id":"HP:0033589","name":"Flatulence","obsolete":false,"parents":["HP:0011458"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A circumscribed area of pus or necrotic debris in the groin (inguinal region).","id":"HP:0033590","name":"Inguinal abscess","obsolete":false,"parents":["HP:0025615"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Groin abscess"}]} +{"alt_ids":[],"definition":"Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system.","id":"HP:0033591","name":"Staghorn calculus","obsolete":false,"parents":["HP:0000787"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Staghorn renal stone"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the blood circulation that react against the H3-H4 histone dimer.","id":"HP:0033592","name":"Anti-H3-H4 antibody positivity","obsolete":false,"parents":["HP:0033558"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the blood circulation that react against the H2A-H2B histone dimer.","id":"HP:0033593","name":"Anti-H2A-H2B antibody positivity","obsolete":false,"parents":["HP:0033558"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased amount of 7-biopterin in the urine.","id":"HP:0033594","name":"Elevated urinary 7-biopterin level","obsolete":false,"parents":["HP:0040416"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Primapterinuria"}]} +{"alt_ids":[],"definition":"Increased concentration of globotriaosylceramide (Gb3) in the blood circulation. Globotriaosylceramide, also named ceramidetrihexoside, is the primary lipid storage in Fabry disease.","id":"HP:0033595","name":"Elevated circulating globotriaosylceramide concentration","obsolete":false,"parents":["HP:0004343"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating ceramidetrihexoside concentration"}]} +{"alt_ids":[],"definition":"An abnormally increased amount of 3-methylcrotonylglycine in the urine.","id":"HP:0033596","name":"Elevated urinary 3-methylcrotonylglycine level","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced activity of the linked disaccharidase, sucrase-isomaltase, which is a glycoprotein localized to the brush border membrane of small intestinal villi.","id":"HP:0033597","name":"Decreased mucosal sucrase-isomaltase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate).","id":"HP:0033598","name":"Fibrillar glomerular subepithelial deposits","obsolete":false,"parents":["HP:0033603"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relatively uniform increase in thickness (subjective estimate).","id":"HP:0033599","name":"Glomerular amyloid subepithelial deposits","obsolete":false,"parents":["HP:0033598"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relatively uniform increase in thickness (subjective estimate).","id":"HP:0033600","name":"Fibrillary glomerular subepithelial deposits","obsolete":false,"parents":["HP:0033598"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate).","id":"HP:0033601","name":"Glomerular subepithelial immune-complex deposits","obsolete":false,"parents":["HP:0033603"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate).","id":"HP:0033602","name":"Glomerular hyaline subepithelial deposits","obsolete":false,"parents":["HP:0033603"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate).","id":"HP:0033603","name":"Glomerular subepithelial deposits","obsolete":false,"parents":["HP:0030949"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop.","id":"HP:0033604","name":"Glomerular capillary wire loop deposits","obsolete":false,"parents":["HP:0030949"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis: subcorneal, intraepidermal, or basement membrane zones. The pustules may or may not be sterile and are normally filled with neutrophils.","id":"HP:0033605","name":"Pustular rash","obsolete":false,"parents":["HP:0000988"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Pustulosis"}]} +{"alt_ids":[],"definition":"Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow.","id":"HP:0033606","name":"Bone marrow maturation arrest","obsolete":false,"parents":["HP:0005561"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Haematopoietic maturation arrest"},{"scope":"EXACT","text":"Hematopoietic maturation arrest"}]} +{"alt_ids":[],"definition":"A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow.","id":"HP:0033607","name":"Bone marrow arrest at the promyelocytic stage","obsolete":false,"parents":["HP:0033606"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging.","id":"HP:0033608","name":"Pulmonary nodule","obsolete":false,"parents":["HP:0031983"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spot on the lung"}]} +{"alt_ids":[],"definition":"A type of pulmonary nodule whose density obscures the underlying parenchyma and thus has a \"solid\" appearance.","id":"HP:0033609","name":"Solid pulmonary nodule","obsolete":false,"parents":["HP:0033608"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pulmonary subsolid nodules (SSNs) refer to pulmonary nodules with pure ground-glass nodules and part-solid ground-glass nodules. A ground-glass nodule (GGN) is the morphologic description of a pulmonary nodule category on thin-section chest computed tomography (CT). During the past decade, the natural history, management strategy and long-term prognosis in the case of GGNs have attracted attention.","id":"HP:0033610","name":"Subsolid pulmonary nodule","obsolete":false,"parents":["HP:0033608"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Part-solid pulmonary nodules are nodules that present with both ground-glass and solid components in which the underlying lung architecture cannot be visualized.","id":"HP:0033611","name":"Part-solid pulmonary nodule","obsolete":false,"parents":["HP:0033610"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pure ground-glass pulmonary nodules (GGNs) are defined as focal nodular areas of increased lung attenuation through which lung parenchymal structures, such as the pulmonary vessels or bronchial structures, can be observed.","id":"HP:0033612","name":"Pure ground-glass pulmonary nodule","obsolete":false,"parents":["HP:0033610"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Solid, homogenous nodules characterized by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes.","id":"HP:0033613","name":"Perifissural pulmonary nodule","obsolete":false,"parents":["HP:0033608"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Aberrant or accessory bronchus supplying the upper lobe originating from the lateral wall of the trachea. The tracheal bronchus is more commonly right-sided, has a variable length and may be blind-ended. Two common types of tracheal bronchus are: supernumerary and displaced.","id":"HP:0033614","name":"Tracheal bronchus","obsolete":false,"parents":["HP:0025426"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accessory bronchus originating from trachea replacing one of the segmental branches of the anatomically normal upper lobe bronchus.","id":"HP:0033615","name":"Displaced tracheal bronchus","obsolete":false,"parents":["HP:0033614"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accessory bronchus originating from the medial wall of the right or left ban bronchus or bronchus intermedius. A cardiac bronchus is usually blind-ended.","id":"HP:0033616","name":"Accessory cardiac bronchus","obsolete":false,"parents":["HP:0025426"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accessory bronchus which exits the trachea in addition to an anatomically normal branching upper lobe bronchus.","id":"HP:0033617","name":"Supernumerary tracheal bronchus","obsolete":false,"parents":["HP:0033614"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus.","id":"HP:0033618","name":"Displaced lobar tracheal bronchus","obsolete":false,"parents":["HP:0033614"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bronchus suis"},{"scope":"EXACT","text":"Pig bronchus"}]} +{"alt_ids":[],"definition":"A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical).","id":"HP:0033619","name":"Typical perifissural nodule","obsolete":false,"parents":["HP:0033613"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical).","id":"HP:0033620","name":"Atypical perifissural nodule","obsolete":false,"parents":["HP:0033613"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bronchial diverticula are blind-ended outpouchings arising from the bronchial tree. They are commonly pulsion diverticula acquired related to chronic cough. Subcarinal air cyst is thought to represent a small main bronchial diverticulum.","id":"HP:0033621","name":"Bronchial diverticula","obsolete":false,"parents":["HP:0025426"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A migratory, centrifugal, erythematous, tender, non-purpuric, and well-demarcated plaque. This feature may be observed in TNF receptor-associated periodic syndrome, in which it often occurs together with migratory myalgia in muscles located underneath the affected areas of skin.","id":"HP:0033622","name":"Migratory erythematous plaque","obsolete":false,"parents":["HP:0010783"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Information about the delivery and health status at birth typically elicited as a part of the past medical history.","id":"HP:0033623","name":"Birth history","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital cytomegalovirus (CMV) infection of the newborn can follow either a primary or recurrent maternal infection. Jaundice, petechiae, and hepatosplenomegaly are the most frequently noted clinical triad in symptomatic infants. Affected infants may develop permanent disabilities such as hearing loss, vision loss, motor and cognitive deficits.","id":"HP:0033624","name":"History of congenital CMV infection","obsolete":false,"parents":["HP:0033623"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"History of congenital cytomegalovirus infection"}]} +{"alt_ids":[],"definition":"A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability, which is perceived as threatening.","id":"HP:0033625","name":"Emotional insecurity","obsolete":false,"parents":["HP:0020007","HP:0031466","HP:5200230"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increase above normal levels of non-HDL cholesterol in the blood. Non-HDL cholesterol is total cholesterol minus high-density lipoprotein HDL-cholesterol (high-density lipoprotein-cholesterol).","id":"HP:0033626","name":"Increased non-HDL cholesterol concentration","obsolete":false,"parents":["HP:0003107"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated non-HDL cholesterol concentration"}]} +{"alt_ids":[],"definition":"Concentration of harderoporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0033627","name":"Increased urine harderoporphyrin level","obsolete":false,"parents":["HP:0010473"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Intermittent abdominal pain with diarrhea and/or constipation.","id":"HP:0033628","name":"Bowel irritability","obsolete":false,"parents":["HP:0011458"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of an antibody of subclass IgG4 in the blood circulation that is directed against the organism's own cells or tissues.","id":"HP:0033629","name":"IgG4 autoimmune antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is \"cloudy\". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously.","id":"HP:0033630","name":"Brain fog","obsolete":false,"parents":["HP:0100543"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mental clouding"},{"scope":"EXACT","text":"Mental fatigue"},{"scope":"EXACT","text":"Mental fog"}]} +{"alt_ids":[],"definition":"Inflammation of the vertebrae (vertebral bodies) or spine.","id":"HP:0033631","name":"Spondylitis","obsolete":false,"parents":["HP:0000925"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Alveolar volume (VA) is a volume accessible during 10-second breath-hold, measured during a single breath maneuver. VA is calculated by knowing the fractional concentration of the tracer gas (eg helium) and the volume of the gas inhaled. VA = Vi*(Fi tracer/Fa tracer). In this equation, Vi = inspired volume of tracer gas, Fi tracer= inspired fraction of tracer gas, Fa tracer = alveolar (exhaled) fraction of tracer gas.","id":"HP:0033632","name":"Abnormal alveolar volume","obsolete":false,"parents":["HP:0030878"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal reduction in alveolar volume.","id":"HP:0033633","name":"Decreased alveolar volume","obsolete":false,"parents":["HP:0033632"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal elevation in alveolar volume.","id":"HP:0033634","name":"Increased alveolar volume","obsolete":false,"parents":["HP:0033632"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Post-capillary pulmonary hypertension is a hemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units).","id":"HP:0033635","name":"Post-capillary pulmonary hypertension","obsolete":false,"parents":["HP:0004890"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Postcapillary pulmonary hypertension"}]} +{"alt_ids":[],"definition":"Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units).","id":"HP:0033636","name":"Combined pre- and post-capillary pulmonary hypertension","obsolete":false,"parents":["HP:0004890"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2).","id":"HP:0033637","name":"Anti-endomysial antibody positivity","obsolete":false,"parents":["HP:0033563"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-transglutaminase 2 antibody positivity"}]} +{"alt_ids":[],"definition":"Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern.","id":"HP:0033638","name":"Intralobular septal thickening","obsolete":false,"parents":["HP:0033711"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intralobular lines"}]} +{"alt_ids":[],"definition":"Embolization of intravascular thrombus containing microorganisms into the pulmonary parenchyma via arterial system. Septic pulmonary embolism (PE) can be associated with multiple additional clinical manifestations such as fever, tachypnea, and hemoptysis. This HPO term refers to the finding of the septic embolus in the lung, which can be inferred from radiological findings. Typical radiographic features of septic PE include patchy air space lesions simulating non-specific bronchopneumonia; multiple ill defined round or wedge shaped densities of varying sizes from approximately 0.5 to 3.5 cm located peripherally; lesions abutting the pleura and located at the end of vessels (feeding vessel sign) seen on chest CT scans. Other pulmonary features suggesting septic PE include bilateral, occasional unilateral, rapid progression of cavities or abscess formations.","id":"HP:0033639","name":"Septic pulmonary embolism","obsolete":false,"parents":["HP:0033553"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Septic pulmonary emboli"}]} +{"alt_ids":[],"definition":"Erosion (loss of substance) of the acetabular subchondral cortical bone. The acetabulum is the concave surface that meets with the head of the femur, forming the hip joint.","id":"HP:0033640","name":"Acetabular erosions","obsolete":false,"parents":["HP:0003170"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deposition of calcium salts in the leaflets (cusps) of the aortic valve.","id":"HP:0033641","name":"Aortic valve leaflet calcification","obsolete":false,"parents":["HP:0004380"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aortic cusp calcification"},{"scope":"EXACT","text":"Aortic valve cusp calcification"}]} +{"alt_ids":[],"definition":"Deposition of calcium salts in the leaflets (cusps) of the mitral valve.","id":"HP:0033642","name":"Mitral valve leaflet calcification","obsolete":false,"parents":["HP:0004382"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased concentration of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons.","id":"HP:0033643","name":"Increased circulating very long-chain fatty acid concentration","obsolete":false,"parents":["HP:0004359"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased plasma levels of very long-chain fatty acid"}]} +{"alt_ids":[],"definition":"Increased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.","id":"HP:0033644","name":"Elevated circulating erythropoietin concentration","obsolete":false,"parents":["HP:0034442"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating erythropoietin"}]} +{"alt_ids":[],"definition":"A developmental defect characterized by an abnormal cleft (V-shaped indentation of the stalklike part of the brain consisting of the medulla oblongata, the midbrain, and the pons.","id":"HP:0033645","name":"Midline brainstem cleft","obsolete":false,"parents":["HP:0002363"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum.","id":"HP:0033646","name":"Absent hippocampal commissure","obsolete":false,"parents":["HP:0025100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Agenesis of the hippocampal commissure"}]} +{"alt_ids":[],"definition":"The silhouette sign is the absence of depiction of an anatomic soft-tissue border. It is caused by consolidation and/or atelectasis of the adjacent lung, by a large mass, or by contiguous pleural fluid. The silhouette sign results from the juxtaposition of structures of similar radiographic attenuation. The sign actually refers to the absence of a silhouette.","id":"HP:0033647","name":"Silhouette sign","obsolete":false,"parents":["HP:0033775"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A pseudocavity appears as an oval or round area of low attenuation in lung nodules, masses, or areas of consolidation that represent spared parenchyma, normal or ectatic bronchi, or focal emphysema rather than cavitation. These pseudocavities usually measure less than 1 cm in diameter. They have been described in patients with adenocarcinoma, bronchioloalveolar carcinoma, and benign conditions such as infectious pneumonia.","id":"HP:0033648","name":"Pulmonary pseudocavity","obsolete":false,"parents":["HP:0031983"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Paraseptal emphysema is characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. This emphysema is characterized by subpleural and peribronchovascular regions of low attenuation separated by intact interlobular septa, sometimes associated with bullae.","id":"HP:0033649","name":"Paraseptal emphysema","obsolete":false,"parents":["HP:0002097"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Distal acinar emphysema"}]} +{"alt_ids":[],"definition":"A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleura (which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos.","id":"HP:0033650","name":"Pulmonary parenchymal band","obsolete":false,"parents":["HP:0031457"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A mycetoma is a discrete mass of intertwined hyphae, usually of an Aspergillus species, matted together by mucus, fibrin, and cellular debris colonizing a cavity, usually from prior fibrocavitary disease (eg, tuberculosis or sarcoidosis). A mycetoma may move to a dependent location when the patient changes position and may show an air crescent sign. CT scans may show a spongelike pattern and foci of calcification in the mycetoma.","id":"HP:0033651","name":"Pulmonary mycetoma","obsolete":false,"parents":["HP:0031983"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lung fungus ball"}]} +{"alt_ids":[],"definition":"A broncholith, a calcified peribronchial lymph node that erodes into an adjacent bronchus, is most often the consequence of Histoplasma or tuberculous infection. The imaging appearance is of a small calcific focus in or immediately adjacent to an airway, most frequently the right middle lobe bronchus. Broncholiths are readily identified on CT scans. Distal obstructive changes may include atelectasis, mucoid impaction, and bronchiectasis","id":"HP:0033652","name":"Broncholith","obsolete":false,"parents":["HP:0025426","HP:0031983"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A bronchocele is bronchial dilatation due to retained secretions (mucoid impaction) usually caused by proximal obstruction, either congenital (eg, bronchial atresia) or acquired (eg, obstructing cancer). A bronchocele is a tubular or branching Y-or V-shaped structure that may resemble a gloved finger. The CT attenuation of the mucus is generally that of soft tissue but may be modified by its composition (eg, high-attenuation material in allergic bronchopulmonary aspergillosis). In the case of bronchial atresia, the surrounding lung may be of decreased attenuation because of reduced ventilation and, thus, perfusion.","id":"HP:0033653","name":"Bronchocele","obsolete":false,"parents":["HP:0025426","HP:0031983"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Irregular and nodular thickening of interlobular septa reminiscent of a row of beads.","id":"HP:0033654","name":"Beaded septum sign","obsolete":false,"parents":["HP:0031983"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A gas-filled space, seen as lucency or low-attenuation area, within a nodule, mass or area of parenchymal consolidations. It has a clearly defined wall over 4 mm thick.","id":"HP:0033655","name":"Pulmonary cavity","obsolete":false,"parents":["HP:0031983"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pulmonary cavern"},{"scope":"EXACT","text":"Pulmonary cavitation"}]} +{"alt_ids":[],"definition":"A juxtaphrenic peak is a small triangular opacity based at the apex of the dome of a hemidiaphragm, associated with upper lobe volume loss of any cause (eg, postirradiation fibrosis or upper lobectomy). It is most readily appreciated on a frontal chest radiograph. The peak is caused by upward retraction of the inferior accessory fissure or an intrapulmonary septum associated with the pulmonary ligament.","id":"HP:0033656","name":"Juxtaphrenic peak","obsolete":false,"parents":["HP:0031457"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Linear atelectasis is a focal area of subsegmental atelectasis with a linear configuration, almost always extending to the pleura. It is commonly horizontal but sometimes oblique or vertical. The thickness of the atelectasis may range from a few millimeters to more than 1 cm.","id":"HP:0033657","name":"Linear atelectasis","obsolete":false,"parents":["HP:0100750"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Discoid atelectasis"},{"scope":"EXACT","text":"Platelike atelectasis"}]} +{"alt_ids":[],"definition":"Rounded atelectasis is rounded collapsed lung associated with invaginated fibrotic pleura and thickened and fibrotic interlobular septa. Most frequently, it is the consequence of an asbestos-induced exudative pleural effusion with resultant pleural scarring, but it may occur with any cause of pleural fibrosis. On chest radiographs, rounded atelectasis appears as a mass abutting a pleural surface, usually in the posterior part of a lower lobe. Distorted vessels have a curvilinear disposition as they converge on the mass (the comet tail sign). The degree of lobar retraction depends on the volume of atelectatic lung. It is almost invariably associated with other signs of pleural fibrosis (eg, blunting of costophrenic angle). CT is more sensitive for the detection and display of the characteristic features of rounded atelectasis. An additional sign is homogeneous uptake of contrast medium in the atelectatic lung.","id":"HP:0033658","name":"Rounded atelectasis","obsolete":false,"parents":["HP:0100750"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blesovsky syndrome"},{"scope":"EXACT","text":"Comet tail sign"},{"scope":"EXACT","text":"Folded lung syndrome"},{"scope":"EXACT","text":"Helical atelectasis"},{"scope":"EXACT","text":"Pleural pseudotumor"},{"scope":"EXACT","text":"Pleuroma"}]} +{"alt_ids":[],"definition":null,"id":"HP:0033659","name":"obsolete Crazy-paving pattern","obsolete":true,"parents":[],"replaced_by":["HP:0025391"],"synonyms":[]} +{"alt_ids":[],"definition":"Tingling (often referred to as a pins and needles feeling) and numbness in the hand.","id":"HP:0033660","name":"Hand paresthesia","obsolete":false,"parents":["HP:0031006"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hand tingling"}]} +{"alt_ids":["HP:0032172"],"definition":"An air crescent is a collection of air in a crescentic shape that separates the wall of a cavity from an inner mass. The air crescent sign is often considered characteristic of either Aspergillus colonization of preexisting cavities or retraction of infarcted lung in angioinvasive aspergillosis. However, the air crescent sign has also been reported in other conditions, including tuberculosis, Wegener granulomatosis, intracavitary hemorrhage, and lung cancer. The crescent can be seen in both plain X-ray and CT scan.","id":"HP:0033661","name":"Air crescent","obsolete":false,"parents":["HP:0031983"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Air crescent sign"}]} +{"alt_ids":[],"definition":"An air bronchogram is a pattern of air-filled (low-attenuation) bronchi on a background of opaque (high-attenuation) airless lung. The sign implies (a) patency of proximal airways and (b) evacuation of alveolar air by means of absorption (atelectasis) or replacement (eg, pneumonia) or a combination of these processes. In rare cases, the displacement of air is the result of marked interstitial expansion (eg, lymphoma).","id":"HP:0033662","name":"Air bronchogram","obsolete":false,"parents":["HP:0031983"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Air trapping is retention of air in the lung distal to an obstruction (usually partial). Air trapping is seen on end-expiration CT scans as parenchymal areas with less than normal increase in attenuation and lack of volume reduction. Comparison between inspiratory and expiratory CT scans can be helpful when air trapping is subtle or diffuse.","id":"HP:0033663","name":"Air trapping","obsolete":false,"parents":["HP:0031983"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Gangliogliomas are rare tumors of the central nervous system. The are WHO grade I and considered low grade. They are well differentiated neuroepithelial tumors consisting of both dysplastic neuronal and neoplastic glial cells.","id":"HP:0033664","name":"Ganglioglioma","obsolete":false,"parents":["HP:0025170"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction in an individual's subjective assessment of his or her sense of well-being and ability to perform social roles.","id":"HP:0033665","name":"Diminished health-related quality of life","obsolete":false,"parents":["HP:0025142"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduction in the ability to perform activities of daily living as compared to previous abilities because of functional deficits due to illness. The 36-item Short Form (SF-36) health survey questionnaire is one of many methods used to measure patients' perceptions of diminished physical functioning.","id":"HP:0033666","name":"Diminished physical functioning","obsolete":false,"parents":["HP:0033665"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decline in physical functional health"},{"scope":"EXACT","text":"Diminished physical health"}]} +{"alt_ids":[],"definition":"A reduction in the subjective feeling of mental well being.","id":"HP:0033667","name":"Diminished mental health","obsolete":false,"parents":["HP:0033665"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mental impairment"},{"scope":"EXACT","text":"Reduced mental health"}]} +{"alt_ids":[],"definition":"A structural anomaly of the amygdala.","id":"HP:0033668","name":"Abnormal amygdala morphology","obsolete":false,"parents":["HP:0007343"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal morphology of the amygdala"}]} +{"alt_ids":[],"definition":"A increase in the volume (size) of the amygdyla.","id":"HP:0033669","name":"Enlarged amygdala","obsolete":false,"parents":["HP:0033668"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Amygdalar enlargement"}]} +{"alt_ids":[],"definition":"Organizing pneumonia manifests as a histologic pattern characterized by loose plugs of connective tissue in the airspaces and distal airways. Interstitial inflammation and fibrosis are minimal or absent. Cryptogenic organizing pneumonia, or COP, is a distinctive clinical disorder among the idiopathic interstitial pneumonias, but the histologic pattern of organizing pneumonia is encountered in many different situations, including pulmonary infection, hypersensitivity pneumonitis, and collagen vascular diseases. Airspace consolidation is the cardinal feature of organizing pneumonia on chest radiographs and CT scans. In COP, the distribution is typically subpleural and basal and sometimes bronchocentric. Other manifestations of organizing pneumonia include groundglass opacity, tree-in-bud pattern, and nodular opacities.","id":"HP:0033670","name":"Organizing pneumonia","obsolete":false,"parents":["HP:0031983"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Oligemia is a reduction in pulmonary blood volume. Most frequently, this reduction is regional, but occasionally it is generalized. Regional oligemia is usually associated with reduced blood flow in the oligemic area. Oligemia appears as a regional or widespread decrease in the size and number of identifiable pulmonary vessels, which is indicative of less than normal blood flow.","id":"HP:0033671","name":"Pulmonary oligemia","obsolete":false,"parents":["HP:0031983"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The Tinel test is performed by lightly tapping (percussing) over the median nerve. It is positive (abnormal) if the patient experiences pain and paresthesias (tingling, numbness) along the distribution of the median nerve.","id":"HP:0033672","name":"Positive carpal Tinel sign","obsolete":false,"parents":["HP:0032120"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive carpal Hoffmann Tinel sign"}]} +{"alt_ids":[],"definition":"The Phalen maneuver is performed by having the patient hold both wrists in complete and forced flexion (pushing the dorsal surfaces of both hands together) for 30-60 seconds. This can increase the pressure in the carpal tunnel. The test is positive (abnormal) if the patient experiences characteristic symptoms of carpal tunnel syndrome (pain and paresthesias along the distribution of the median nerve, i.e., thumb, index finger, and middle finger).","id":"HP:0033673","name":"Positive Phalen test","obsolete":false,"parents":["HP:0032120"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Phalen maneuver"},{"scope":"EXACT","text":"Phalen manoeuvre"}]} +{"alt_ids":[],"definition":"Pulmonary blood flow redistribution refers to any departure from the normal distribution of blood flow in the lungs that is caused by an increase in pulmonary vascular resistance elsewhere in the pulmonary vascular bed. Pulmonary blood flow redistribution is indicated by a decrease in the size and/or number of visible pulmonary vessels in one or more lung regions, with a corresponding increase in number and/or size of pulmonary vessels in other parts of the lung.","id":"HP:0033674","name":"Pulmonary blood flow redistribution","obsolete":false,"parents":["HP:0031983"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A clinically recognizable state of increased vulnerability resulting from a decline in reserve and function across multiple physiologic systems such that the ability to cope with everyday or acute stressors is compromised.","id":"HP:0033675","name":"Frailty","obsolete":false,"parents":["HP:0025142"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events is posttraumatic stress disorder (PTSD). Symptoms of PTSD include intrusive recollections, such as re-experiencing the trauma through flashbacks, memories, or nightmares. Additionally, individuals may experience avoidant and numbing symptoms, which can include diminished emotions and avoidance of situations that serve as reminders of the traumatic event. Hyperarousal is another symptom, characterized by increased irritability, exaggerated startle reactions, and difficulties with sleeping or concentrating.","id":"HP:0033676","name":"Posttraumatic stress symptom","obsolete":false,"parents":["HP:5200230"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"PTSD"}]} +{"alt_ids":[],"definition":"Acute respiratory distress syndrome (ARDS) is defined as an acute disorder that starts within seven days of the inciting event and is characterized by bilateral lung infiltrates and severe progressive hypoxemia in the absence of any evidence of cardiogenic pulmonary edema. ARDS is defined by the patient's oxygen in arterial blood (PaO2) to the fraction of the oxygen in the inspired air (FiO2). These patients have a PaO2/FiO2 ratio of less than 300.","id":"HP:0033677","name":"Acute respiratory distress syndrome","obsolete":false,"parents":["HP:0004887","HP:5210123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ARDS"}]} +{"alt_ids":[],"definition":"The term acute coronary syndrome (ACS) refers to any group of clinical symptoms compatible with acute myocardial ischemia and includes unstable angina (UA), non-ST-segment elevation myocardial infarction (NSTEMI), and ST-segment elevation myocardial infarction (STEMI).","id":"HP:0033678","name":"Acute coronary syndrome","obsolete":false,"parents":["HP:0011025"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the red nucleus, a part of the midbrain involved in control of movement.","id":"HP:0033679","name":"Abnormal red nucleus morphology","obsolete":false,"parents":["HP:0002418"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signaling pathway abnormalities.","id":"HP:0033680","name":"Pilocytic astrocytoma","obsolete":false,"parents":["HP:0009592"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Oligodendroglioma is a type of diffusely infiltrating glioma and constitutes approximately 5% of primary intracranial tumors. They often involve the cortical gray matter and are most commonly seen in the frontal lobes. OGs are generally low grade WHO grade II neoplasms that are slow-growing tumors and have a favorable treatment response when compared to other gliomas. Grade III anaplastic OG is a more malignant form of the tumor which portends a less favorable prognosis and may occur de novo or as degeneration from the lower grade OG.","id":"HP:0033681","name":"Oligodendroglioma","obsolete":false,"parents":["HP:0009733"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pleomorphic xanthoastrocytomas (PXA) are rare low-grade astrocytomas (WHO Grade II) typically found in the temporal lobe and classically presenting with epilepsy. PXA is an astrocytic neoplasm that most often presents in children or young adults but can also occur in adults. The diagnosis of anaplastic PXA is made based upon tumor histopathologic characteristics and requires increased proliferative activity (mitotic index at least 5 mitoses/10 HPF), which is associated with worse overall survival. In general, anaplastic PXAs acquire features of a more aggressive astrocytic neoplasm that can include increased proliferation, necrosis, microvascular proliferation, loss of pericellular reticulin, and increased infiltrative growth.","id":"HP:0033682","name":"Pleomorphic xanthoastrocytoma","obsolete":false,"parents":["HP:0009592"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased intensity of muscle tendon reflexes in jaw.","id":"HP:0033683","name":"Jaw hyperreflexia","obsolete":false,"parents":["HP:0001347"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brisk jaw jerk"}]} +{"alt_ids":[],"definition":"Ay deviation from the normal distribution of fiber types in skeletal muscle. The skeletal muscle groups of the mammalian body are made up of bundles of muscle fibers. These fibers can be assigned to different Types, with characteristic movement rates, response to neural inputs, and metabolic styles. Skeletal muscle fibers are broadly classified as slow-twitch (type 1) and fast-twitch (type 2). Multiple fiber types are generally intermingled within a single muscle group, and different muscle groups have varying proportions of fiber types","id":"HP:0033684","name":"Abnormal muscle fiber-type distribution","obsolete":false,"parents":["HP:0004303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type.","id":"HP:0033685","name":"Fiber type grouping","obsolete":false,"parents":["HP:0033684"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fibre type grouping"}]} +{"alt_ids":[],"definition":"Enlargement of mitochondria. Mitochondrial hypertrophy is not discernible by light microscopy. By electron microscopy (EM), hypertrophic mitochondria have normal cristae and normal matrix density. In contrast, swollen mitochondria display swollen cristae and irregular matrix densities in EM.","id":"HP:0033686","name":"Mitochondrial hypertrophy","obsolete":false,"parents":["HP:0012087"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Megamitochondria"}]} +{"alt_ids":[],"definition":"A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds).","id":"HP:0033687","name":"Short term memory impairment","obsolete":false,"parents":["HP:0002354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short term memory loss"}]} +{"alt_ids":[],"definition":"A deficit in the ability to retrieve information from long-term memory, which can be defined as a seemingly unlimited capacity to store memories can last years and relate to the performance of actions or skills (i.e., procedural memories, knowing how) and memories of facts, rules, concepts, and events (i.e., declarative memories, knowing that).","id":"HP:0033688","name":"Long term memory impairment","obsolete":false,"parents":["HP:0002354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Long term memory loss"}]} +{"alt_ids":[],"definition":"The impaired ability to establish new long-term memories.","id":"HP:0033689","name":"Anterograde memory impairment","obsolete":false,"parents":["HP:0033688"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anterograde amnesia"}]} +{"alt_ids":[],"definition":"Inability to retrieve information from the long-term memory that was acquired before the onset of amnesia.","id":"HP:0033690","name":"Retrograde memory impairment","obsolete":false,"parents":["HP:0033688"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Retrograde amnesia"}]} +{"alt_ids":[],"definition":"A reduction in the ability to retrieve information about how to perform activities, such as how to ride a bike or drive a car, how to perform activities of daily living, or how to play a musical instrument.","id":"HP:0033691","name":"Procedural memory loss","obsolete":false,"parents":["HP:0033690"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Impaired procedural memory"},{"scope":"EXACT","text":"Procedural memory deficit"}]} +{"alt_ids":[],"definition":"Impaired ability to remember facts and events.","id":"HP:0033692","name":"Declarative memory loss","obsolete":false,"parents":["HP:0033690"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Impaired declarative memory"}]} +{"alt_ids":[],"definition":"Perception of an odor in the absence of any stimuli in the surrounding environment that could emit the odor.","id":"HP:0033693","name":"Phantosmia","obsolete":false,"parents":["HP:0004408"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Phantom odor"},{"scope":"EXACT","text":"Phantom odour"},{"scope":"EXACT","text":"Phantom smell"}]} +{"alt_ids":[],"definition":"Perception of touch without a tactile stimulus.","id":"HP:0033694","name":"Tactile hallucination","obsolete":false,"parents":["HP:5200214"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tactile hallucinations"}]} +{"alt_ids":[],"definition":"This is a general term that denotes a reduced ability to perform the work that one performed prior to an illness, and may be related to pain, cognitive dysfunction, fatigue or other physical disabilities.","id":"HP:0033695","name":"Occupational disability","obsolete":false,"parents":["HP:0025142"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Acral areas of erythema with vesicles or pustules. The lesions resemble chilblains and have purpuric areas, affecting hands and feet.","id":"HP:0033696","name":"Pseudo-chilblain","obsolete":false,"parents":["HP:0011123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chilblain-like lesion"}]} +{"alt_ids":[],"definition":"A type of acute-onset skin rash characterized by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. The fluid contained in a vesicle may be clear, serous, or hemorrhagic.","id":"HP:0033697","name":"Vesicular eruption","obsolete":false,"parents":["HP:0000988"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of vesicular eruption in which the vesicles are at same stages.","id":"HP:0033698","name":"Monomorphic vesicular eruption","obsolete":false,"parents":["HP:0033697"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of vesicular eruption in which the vesicles are at different stages.","id":"HP:0033699","name":"Polymorphic vesicular eruption","obsolete":false,"parents":["HP:0033697"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An acute onset rash characterized by by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevations with a diameter less than 10mm at the widest point, and by multiple papules, which are circumscribed, solid epidermal elevations with no visible fluid with a diameter less than 10mm at the widest point.","id":"HP:0033700","name":"Papulovesicular eruption","obsolete":false,"parents":["HP:0000988"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Papulo-vesicular eruption"}]} +{"alt_ids":[],"definition":"Increased density related to increased bone mass in the outermost layer (edge) of the iliac wing.","id":"HP:0033701","name":"Cortical sclerosis of the iliac wing","obsolete":false,"parents":["HP:0011867"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This finding is a thin curvilinear opacity, 1-3 mm in thickness, lying less than 1 cm from and parallel to the pleural surface. It corresponds to atelectasis of normal lung if seen in the dependent posteroinferior portion of lung of a patient in the supine position and is subsequently shown to disappear on CT sections acquired with the patient prone. It may also be encountered in patients with pulmonary edema or fibrosis (other signs are usually present).","id":"HP:0033702","name":"Subpleural curvilinear line","obsolete":false,"parents":["HP:0031457","HP:0031630"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Dysembryoplastic neuroepithelial tumor (DNT) is a benign glioneuronal neoplasm that most commonly occurs in children and young adults and may present with medically intractable, chronic seizures. Lesions vary in size from 10 to 25 mm, although occasionally larger tumors of up to 70 mm have been reported. Grossly, tumors appear as well-defined, solitary nodular masses or poorly demarcated lesions. On the cut section, most tumors are cortically located and may extend into the underlying subcortical white matter in larger tumors. Multi-nodular appearance or cystic changes are commonly found","id":"HP:0033703","name":"Dysembryoplastic neuroepithelial tumor","obsolete":false,"parents":["HP:0025170"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"DNET"},{"scope":"EXACT","text":"DNT"}]} +{"alt_ids":[],"definition":"An increased amount of homogentisic acid in the urine.","id":"HP:0033704","name":"Elevated urinary homogentisic acid","obsolete":false,"parents":["HP:0033303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A feeling of sadness characterized by episodes of crying that can occur suddenly and are not easily controlled in social situations.","id":"HP:0033705","name":"Tearfulness","obsolete":false,"parents":["HP:5200261"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Crying episodes"}]} +{"alt_ids":[],"definition":"This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and in the upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis.","id":"HP:0033706","name":"Progressive massive fibrosis","obsolete":false,"parents":["HP:0031983"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth.","id":"HP:0033707","name":"Perioral hyperkeratosis","obsolete":false,"parents":["HP:0034521"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0033708","name":"Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibodies"},{"scope":"EXACT","text":"Anti-HMGCR autoantibodies"}]} +{"alt_ids":[],"definition":"An increase in the amount of airway mucus. This feature may be characterized by frequent or excessive throat clearing (exhalation through tightly constricted laryngopharyngeal tissues accompanied by vibration of the palatoglossal arch and the vocal folds serving to clear mucus from the airway).","id":"HP:0033709","name":"Increased sputum production","obsolete":false,"parents":["HP:0032016"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased phlegm"}]} +{"alt_ids":[],"definition":"A perception of shortness of breath that occurs independently of exertion.","id":"HP:0033710","name":"Rest dyspnea","obsolete":false,"parents":["HP:0002094"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Breathlessness at rest"},{"scope":"EXACT","text":"Dyspnea at rest"},{"scope":"EXACT","text":"Dyspnoea at rest"},{"scope":"EXACT","text":"Shortness of breath at rest"}]} +{"alt_ids":[],"definition":"Pathological thickening of the pulmonary interstitium visualized radiographically and divided into interlobular and intralobular septal thickening.","id":"HP:0033711","name":"Pulmonary interstitial thickening","obsolete":false,"parents":["HP:0025389"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles.","id":"HP:0033712","name":"Repeated implantation failure","obsolete":false,"parents":["HP:0033335"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent implantation failure"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle.","id":"HP:0033713","name":"Anti-signal recognition particle antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-SRP antibody positivity"}]} +{"alt_ids":[],"definition":"The occurrence of multiple distinct meningiomas in the same individual.","id":"HP:0033714","name":"Multiple meningiomas","obsolete":false,"parents":["HP:0002858"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multifocal meningiomata"},{"scope":"EXACT","text":"Multiple meningiomata"}]} +{"alt_ids":[],"definition":"Hippocampal sclerosis is a neuropathologic finding characterized by neuronal loss and gliosis in the CA-1 and subiculum of the hippocampus.","id":"HP:0033715","name":"Hippocampal sclerosis","obsolete":false,"parents":["HP:0002171","HP:0025100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mesial temporal sclerosis"}]} +{"alt_ids":[],"definition":"Focal epileptiform EEG discharges recorded in the frontal region.","id":"HP:0033716","name":"EEG with frontal epileptiform discharges","obsolete":false,"parents":["HP:0011185"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal epileptiform EEG discharges recorded in the temporal region.","id":"HP:0033717","name":"EEG with temporal epileptiform discharges","obsolete":false,"parents":["HP:0011185"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal epileptiform EEG discharges recorded in the central region.","id":"HP:0033718","name":"EEG with central epileptiform discharges","obsolete":false,"parents":["HP:0011185"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal epileptiform EEG discharges recorded in the parietal region.","id":"HP:0033719","name":"EEG with parietal epileptiform discharges","obsolete":false,"parents":["HP:0011185"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal epileptiform EEG discharges recorded in the occipital region.","id":"HP:0033720","name":"EEG with occipital epileptiform discharges","obsolete":false,"parents":["HP:0011185"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Focal epileptiform EEG discharges recorded in the centrotemporal region.","id":"HP:0033721","name":"EEG with centrotemporal epileptiform discharges","obsolete":false,"parents":["HP:0011185"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region.","id":"HP:0033722","name":"Autonomic epileptic aura","obsolete":false,"parents":["HP:0011154","HP:0033348"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Autonomic aura"},{"scope":"EXACT","text":"Autonomic auras"},{"scope":"EXACT","text":"Vegetative aura"}]} +{"alt_ids":[],"definition":"Abnormal structure of the venous sinuses that drain blood from the cerebral veins and cerebrospinal fluid (CSF) from the arachnoid granulations to the internal jugular veins.","id":"HP:0033723","name":"Abnormal cerebral venous sinus morphology","obsolete":false,"parents":["HP:0012480"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal dural venous sinus morphology"},{"scope":"EXACT","text":"Abnormality of the cerebral venous sinuses"}]} +{"alt_ids":[],"definition":"An intracranial thrombosis of the venous sinuses. These typically present with headache, seizures or venous stroke secondary to raised cerebral venous pressure. Cerebral venous sinus thromboses usually affect larger areas of brain parenchyma than those affected by cerebral vein thromboses.","id":"HP:0033724","name":"Cerebral venous sinus thrombosis","obsolete":false,"parents":["HP:0004936","HP:0033723"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).","id":"HP:0033725","name":"Thin corpus callosum","obsolete":false,"parents":["HP:0001273"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small corpus callosum"},{"scope":"EXACT","text":"Thinning of the corpus callosum"}]} +{"alt_ids":[],"definition":"Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management.","id":"HP:0033726","name":"Lupus nephritis","obsolete":false,"parents":["HP:0000099"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A subclass of lupus nephritis with active or inactive diffuse, segmental or global endocapillary or extracapillary glomerulonephritis involving at least 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations.","id":"HP:0033727","name":"Diffuse lupus nephritis","obsolete":false,"parents":["HP:0033726"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Class IV lupus nephritis"}]} +{"alt_ids":[],"definition":"A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy.","id":"HP:0033728","name":"Mesangial proliferative lupus nephritis","obsolete":false,"parents":["HP:0033726"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Class II lupus nephritis"}]} +{"alt_ids":[],"definition":"A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence.","id":"HP:0033729","name":"Minimal mesangial lupus nephritis","obsolete":false,"parents":["HP:0033726"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Class I lupus nephritis"}]} +{"alt_ids":[],"definition":"A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis","id":"HP:0033730","name":"Membranous lupus nephritis","obsolete":false,"parents":["HP:0033726"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Class V lupus nephritis"}]} +{"alt_ids":[],"definition":"A subclass of lupus nephritis with active or inactive focal, segmental or global endocapillary or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits, with or without mesangial alterations","id":"HP:0033731","name":"Focal lupus nephritis","obsolete":false,"parents":["HP:0033726"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Class III lupus nephritis"}]} +{"alt_ids":[],"definition":"A subclass of lupus nephritis with at least 90% of glomeruli globally sclerosed without residual activity.","id":"HP:0033732","name":"Advanced sclerotic lupus nephritis","obsolete":false,"parents":["HP:0033726"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Class VI lupus nephritis"}]} +{"alt_ids":[],"definition":"Vesicoureteral reflux without dilation of the renal calyces (Grade I-II).","id":"HP:0033733","name":"Low-grade vesicoureteral reflux","obsolete":false,"parents":["HP:0000076"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Vesicoureteral reflux with dilation of the renal calyces (Grade III - V).","id":"HP:0033734","name":"High-grade vesicoureteral reflux","obsolete":false,"parents":["HP:0000076"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Vesicoureteral reflux into the ureter only.","id":"HP:0033735","name":"Grade I vesicoureteral reflux","obsolete":false,"parents":["HP:0033733"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Grade I VUR"},{"scope":"EXACT","text":"VUR I"}]} +{"alt_ids":[],"definition":"Vesicoureteral reflux into a non-dilated pyelocalyceal system.","id":"HP:0033736","name":"Grade II vesicoureteral reflux","obsolete":false,"parents":["HP:0033733"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Grade II VUR"},{"scope":"EXACT","text":"VUR II"}]} +{"alt_ids":[],"definition":"Vesicoureteral reflux with dilatation of the collecting system.","id":"HP:0033737","name":"Grade III vesicoureteral reflux","obsolete":false,"parents":["HP:0033734"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Grade III VUR"},{"scope":"EXACT","text":"VUR III"}]} +{"alt_ids":[],"definition":"Vesicoureteral reflux due to abnormalities in ureterovesical junction, e.g. ectopic insertion of the ureter or short intravesical tunnel at the ureterovesical junction.","id":"HP:0033738","name":"Primary vesicoureteral reflux","obsolete":false,"parents":["HP:0000076"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Vesicoureteral reflux induced by increased bladder pressures in patients with voiding dysfunction e.g. in case of congenital posterior urethral valves or neurogenic bladder dysfunction.","id":"HP:0033739","name":"Secondary vesicoureteral reflux","obsolete":false,"parents":["HP:0000076"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Vesicoureteral reflux with massive dilation of the collecting system and severe tortuosity of the ureter.","id":"HP:0033740","name":"Grade V vesicoureteral reflux","obsolete":false,"parents":["HP:0033734"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Grade V VUR"},{"scope":"EXACT","text":"VUR V"}]} +{"alt_ids":[],"definition":"Vesicoureteral reflux with more-extensive dilation with blunting of the calyces and tortuosity of the ureter.","id":"HP:0033741","name":"Grade IV vesicoureteral reflux","obsolete":false,"parents":["HP:0033734"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Grade IV VUR"},{"scope":"EXACT","text":"VUR IV"}]} +{"alt_ids":[],"definition":"Severe vesicoureteral reflux reaching the kidney parenchyma.","id":"HP:0033742","name":"Intrarenal reflux","obsolete":false,"parents":["HP:0033734"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital defect characterized by lack of development of the macula.","id":"HP:0033743","name":"Macular agenesis","obsolete":false,"parents":["HP:0008059"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of cerebellar dysplasia that affects the entire cerebellum.","id":"HP:0033744","name":"Global cerebellar dysplasia","obsolete":false,"parents":["HP:0007033"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of cerebellar dysplasia that affects the upper part of the cerebellar vermis.","id":"HP:0033745","name":"Dysplasia of the superior cerebellar vermis","obsolete":false,"parents":["HP:0002334","HP:0007033"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the area between the shoulder blades.","id":"HP:0033746","name":"Intrascapular pain","obsolete":false,"parents":["HP:0003418"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pain between shoulder blades"}]} +{"alt_ids":[],"definition":"A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes.","id":"HP:0033747","name":"Abnormal exteroceptive sensation","obsolete":false,"parents":["HP:0003474"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased ability to perceive touch.","id":"HP:0033748","name":"Hypoesthesia","obsolete":false,"parents":["HP:0033747"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoaesthesia"},{"scope":"EXACT","text":"Numbness"}]} +{"alt_ids":[],"definition":"A deviation from normal values for the functional residual capacity, which is defined as the volume remaining in the lungs after a normal, passive exhalation.","id":"HP:0033749","name":"Abnormal functional residual capacity","obsolete":false,"parents":["HP:0030878"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal reduction in the volume remaining in the lungs after a normal, passive exhalation.","id":"HP:0033750","name":"Reduced functional residual capacity","obsolete":false,"parents":["HP:0033749"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal increase in the volume remaining in the lungs after a normal, passive exhalation.","id":"HP:0033751","name":"Elevated functional residual capacity","obsolete":false,"parents":["HP:0033749"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from normal values of the residual volume, which is defined as the volume of air left in the lungs at the end of maximal expiration (ie. the volume of air which you cannot voluntarily exhale from your lungs).","id":"HP:0033752","name":"Abnormal residual volume","obsolete":false,"parents":["HP:0030878"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal decrease in the amount of air remaining in a person's lungs after full exhalation.","id":"HP:0033753","name":"Reduced residual volume","obsolete":false,"parents":["HP:0033752"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole).","id":"HP:0033754","name":"Abnormal left ventricular end-diastolic volume","obsolete":false,"parents":["HP:0005162"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole).","id":"HP:0033755","name":"Increased left ventricular end-diastolic volume","obsolete":false,"parents":["HP:0033754"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally low volume of blood in the left ventricle at the end of diastole (just before systole).","id":"HP:0033756","name":"Decreased left ventricular end-diastolic volume","obsolete":false,"parents":["HP:0033754"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fat infiltration in the pancreas.","id":"HP:0033757","name":"Pancreatic steatosis","obsolete":false,"parents":["HP:0012090"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fatty pancreas"},{"scope":"EXACT","text":"Non-alcoholic fatty pancreatic disease"},{"scope":"EXACT","text":"Pancreatic fatty infiltration"},{"scope":"EXACT","text":"Pancreatic fatty replacement"},{"scope":"EXACT","text":"Pancreatic lipomatosis"},{"scope":"EXACT","text":"Pancreatic lipomatous pseudohypertrophy"}]} +{"alt_ids":[],"definition":"A circumscribed area of pus or necrotic debris in the labia.","id":"HP:0033758","name":"Labial abscess","obsolete":false,"parents":["HP:0033587"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abscess of the labia"}]} +{"alt_ids":[],"definition":"Decreased renal tubular reabsorption of magnesium.","id":"HP:0033759","name":"Impaired renal tubular reabsorption of magnesium","obsolete":false,"parents":["HP:0011038"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Maximum oxygen uptake (VO2max) is defined as the highest rate of oxygen uptake and utilization by the body during intense, maximal exercise, whereby further increases in work rate do not bring on additional rises in VO2 (i.e. plateau). VO2Max is typically measured with a treadmill and ergometer and the participant exercises with increasing levels of intensity. VO2Max is the point at which oxygen uptake no longer increases despite an increase in workload.","id":"HP:0033760","name":"Decreased maximal oxygen uptake","obsolete":false,"parents":["HP:0030878"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Xanthogranulomatous pyelonephritis is a granulomatous inflammatory infiltrate composed of neutrophils, lymphocytes, plasma cells, xanthomatous histiocytes, and multinucleated giant cells.","id":"HP:0033761","name":"Xanthogranulomatous pyelonephritis","obsolete":false,"parents":["HP:0012330"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Acute onset neurological deficits such as weakness, dizziness, numbness, issues with speech, or visual changes related to sudden impairment of blood flow to a part of the brain due to occlusion or rupture of the middle cerebral artery to the brain.","id":"HP:0033762","name":"Middle cerebral artery stroke","obsolete":false,"parents":["HP:0001297"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cessation of life at the age of 16 years or later.","id":"HP:0033763","name":"Death in adulthood","obsolete":false,"parents":["HP:0011420"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Death between the age of 40 and 60 years.","id":"HP:0033764","name":"Death in middle age","obsolete":false,"parents":["HP:0033763"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Death at an age of at least 60 years.","id":"HP:0033765","name":"Death in late adulthood","obsolete":false,"parents":["HP:0033763"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Polymelia is a congenital anomaly, which is defined as the presence of accessory limbs attached to various body regions and could be classified as cephalomelia (extra-limb attached to the head), notomelia (extra-limb attached to the back bone), thoracomelia (extra-limb attached to the thorax), and pyromelia (extra-limb attached to the pelvis).","id":"HP:0033766","name":"Polymelia","obsolete":false,"parents":["HP:0040064"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally high or low single motor unit action potential reading (-Pk Amps).","id":"HP:0033767","name":"Abnormal single motor unit action potential","obsolete":false,"parents":["HP:0003457"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Overgrowth of candida albicans in the penis.","id":"HP:0033768","name":"Penile thrush","obsolete":false,"parents":["HP:0000036"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Penile candidiasis"}]} +{"alt_ids":[],"definition":"Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps.","id":"HP:0033769","name":"Fundic gland polyposis","obsolete":false,"parents":["HP:0006753"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fundic gland polyps"},{"scope":"EXACT","text":"Gastric polyposis"},{"scope":"EXACT","text":"Proximal polyposis of the stomach"}]} +{"alt_ids":[],"definition":"An adenocarcinoma arising from the stomach glandular epithelium. Gastric carcinoma often produces no specific symptoms when it is superficial and potentially surgically curable, although up to 50% of patients may have nonspecific gastrointestinal complaints such as dyspepsia.","id":"HP:0033770","name":"Gastric adenocarcinoma","obsolete":false,"parents":["HP:0006753"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pleuritic chest pain is characterized by sudden and intense sharp, stabbing, or burning pain in the chest when inhaling and exhaling.","id":"HP:0033771","name":"Pleuritic chest pain","obsolete":false,"parents":["HP:0100749"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography.","id":"HP:0033772","name":"Abnormal RV/TLC ratio","obsolete":false,"parents":["HP:0030878"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally low ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining after maximal expiration and TLC is the total amount of air in the lungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography.","id":"HP:0033773","name":"Decreased RV/TLC ratio","obsolete":false,"parents":["HP:0033772"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased renal tubular reabsorption of uric acid.","id":"HP:0033774","name":"Impaired renal tubular reabsorption of uric acid","obsolete":false,"parents":["HP:0011038"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal pulmonary imaging finding defined by eponym or reference to signs, symbols, or naturalistic images.","id":"HP:0033775","name":"Pulmonary imaging sign","obsolete":false,"parents":["HP:0031983"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Small nodules of enamel on the root of a tooth.","id":"HP:0033776","name":"Enamel pearls","obsolete":false,"parents":["HP:0000682"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Additional cusps of a dental crown.","id":"HP:0033777","name":"Supernumerary cusp","obsolete":false,"parents":["HP:0011063"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Additional cusp"},{"scope":"EXACT","text":"Extra cusp"}]} +{"alt_ids":[],"definition":"An additional cusp located in the middle of the occlusal surface.","id":"HP:0033778","name":"Leung cusp","obsolete":false,"parents":["HP:0033777"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tooth crown with convex mesial and distal surfaces.","id":"HP:0033779","name":"Barrel-shaped tooth","obsolete":false,"parents":["HP:0006482"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tooth crown with a marked cervical area constriction.","id":"HP:0033780","name":"Bulbous tooth","obsolete":false,"parents":["HP:0006482"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tooth with a crown that narrows from proximal toward the incisal edge. Tapering of teeth typically involves incisors.","id":"HP:0033781","name":"Tapered tooth","obsolete":false,"parents":["HP:0011063"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An incisor with a half-moon shape incisal edge.","id":"HP:0033782","name":"Semilunar tooth","obsolete":false,"parents":["HP:0011063"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Crescent-shape tooth"},{"scope":"EXACT","text":"Hutchinson incisor"},{"scope":"EXACT","text":"Semicircular tooth"},{"scope":"EXACT","text":"Tooth, semilunar"}]} +{"alt_ids":[],"definition":"Molar incisor malfomation (MIM) is composed of normal crown with marked cervical constriction, thin, narrow short roots which is a combination of signs that occurs in deciduous and permanent molars.","id":"HP:0033783","name":"Molar incisor malformation","obsolete":false,"parents":["HP:0011070"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This is a bundled term as dentin dysplasia is composed of short roots with pointed ends and taurodontism and intrapulpal calcifications.","id":"HP:0033784","name":"Dentin dysplasia","obsolete":false,"parents":["HP:0010299"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Complete or almost complete absence of enamel.","id":"HP:0033785","name":"Enamel agenesis","obsolete":false,"parents":["HP:0000682"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Enamel with a white or brown discoloration without hypoplasia.","id":"HP:0033786","name":"Hypomature enamel","obsolete":false,"parents":["HP:0000682"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enamel opacity"}]} +{"alt_ids":[],"definition":"The decrease or absence of cementum. The cementum anchors the periodontal ligament attachment fiber between the tooth root and the alveolar bone. Its absence leads to early loss of teeth.","id":"HP:0033787","name":"Cementum hypoplasia","obsolete":false,"parents":["HP:0100717"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cementum aplasia"}]} +{"alt_ids":[],"definition":"Excess of cementum on the tooth root surface.","id":"HP:0033788","name":"Cementum overgrowth","obsolete":false,"parents":["HP:0100717"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cementation hyperplasia"},{"scope":"EXACT","text":"Cementum hypertrophy"},{"scope":"EXACT","text":"Cementum overdeveloped"},{"scope":"EXACT","text":"Drumstick-shaped root"},{"scope":"EXACT","text":"Hypercementosis"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by eating cheese.","id":"HP:0033789","name":"Triggered by cheese ingestion","obsolete":false,"parents":["HP:0033793"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations.","id":"HP:0033790","name":"Thistle tube shaped pulp","obsolete":false,"parents":["HP:0006479"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flame-shaped pulp"}]} +{"alt_ids":[],"definition":"Fusion of a tooth with alveolar bone.","id":"HP:0033791","name":"Tooth ankylosis","obsolete":false,"parents":["HP:0006482"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lingual occlusion of buccal cusps and/or incisal edge of maxillary teeth to the buccal cusps and/or incisal edge of mandibular teeth.","id":"HP:0033792","name":"Cross bite","obsolete":false,"parents":["HP:0000692"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by eating a certain food.","id":"HP:0033793","name":"Triggered by food ingestion","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargement, glove tightness, and hand enlargement.","id":"HP:0033794","name":"Acral overgrowth","obsolete":false,"parents":["HP:0001507"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acral enlargement"},{"scope":"EXACT","text":"Acral hypertrophy"},{"scope":"EXACT","text":"Acromegalic growth"},{"scope":"RELATED","text":"Acromegaly"}]} +{"alt_ids":[],"definition":null,"id":"HP:0033795","name":"Growth without growth hormone","obsolete":false,"parents":["HP:0001507"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional abnormality of a white blood cell.","id":"HP:0033796","name":"Abnormal leukocyte physiology","obsolete":false,"parents":["HP:0001871","HP:0010978"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality of leukocyte motility in response to chemokines, which is required for the inflammatory response to infections, and for organ development, tissues homeostasis, and vascularization.","id":"HP:0033797","name":"Leukocyte migration defect","obsolete":false,"parents":["HP:0033796"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal leukocyte migration"},{"scope":"EXACT","text":"Defects of leukocyte migration"}]} +{"alt_ids":[],"definition":null,"id":"HP:0033798","name":"obsolete Impaired leukocyte adhesion","obsolete":true,"parents":[],"replaced_by":["HP:0025825"],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of a sex hormone in the blood circulation","id":"HP:0033799","name":"Abnormal circulating sex hormone concentration","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal circulating gonadal steroid concentration"},{"scope":"EXACT","text":"Abnormal circulating gonadocorticoid concentration"},{"scope":"EXACT","text":"Abnormal circulating sex steroid concentration"}]} +{"alt_ids":[],"definition":"Blistering (presence of multiple fluid filled blisters) categorized according to the body site where they occur.","id":"HP:0033800","name":"Blistering by anatomical location","obsolete":false,"parents":["HP:0008066"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates. The skin is divided into three layers. The epidermis (outermost layer, which mainly consists of keratinocytes), the dermis, and a subcutaneous layer. The epidermis is divided into five layers: the basal lamina (innermost layer), the basal cell layer, the stratum spinosum, the stratum granulosum, and the stratum corneum (outermost layer). Cleavage in epidermolysis bullosa (EB) simplex occurs within the basal keratinocytes; in junctional EB, within the lamina lucida; and in dystrophic EB occurs in the sublamina densa, in the upper portion of the dermis (papillary dermis). In Kindler's EB, cleavage can occur in the basal keratinocytes, in the lamina lucida, or below the lamina densa.","id":"HP:0033801","name":"Blistering by histological location","obsolete":false,"parents":["HP:0008066"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleavage occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells.","id":"HP:0033802","name":"Intra-epidermal blistering","obsolete":false,"parents":["HP:0033801"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of blistering in which the cleavage plane of blisters is located below the lamina densa.","id":"HP:0033803","name":"Sub-lamina densa cleavage","obsolete":false,"parents":["HP:0033804"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blistering with sub-lamina densa plane of cleavage"}]} +{"alt_ids":[],"definition":"A type of blistering in which the lesions are located beneath the epidermis.","id":"HP:0033804","name":"Subepidermal blistering","obsolete":false,"parents":["HP:0033801"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A granuloma which is not associated with necrotic changes.","id":"HP:0033805","name":"Non-necrotizing granuloma","obsolete":false,"parents":["HP:0032252"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal structure of the stratum granulosum, which is is a thin layer of cells in the epidermis lying above the stratum spinosum and below the stratum corneum.","id":"HP:0033806","name":"Abnormal epidermis stratum granulosum morphology","obsolete":false,"parents":["HP:0011124"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin.","id":"HP:0033807","name":"Absent keratohyalin granules","obsolete":false,"parents":["HP:0033806"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A cystic structure arising from the epididymis, rete testis or efferent ductuli. These structures are filled with spermatozoa containing fluid that may be milky. These cysts are usually outside the tunica vaginalis and, as with hydrocele, transluminate easily.","id":"HP:0033808","name":"Spermatocele","obsolete":false,"parents":["HP:0009714"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased concentration of 17alpha-hydroxypregnenolone in the blood circulation. 17alpha-hydroxypregnenolone is a 21-carbon steroid that is converted from pregnenolone by steroid 17-alpha-hydroxylase, as an intermediate in the biosynthesis of gonadal steroid hormones and adrenal corticosteroids.","id":"HP:0033809","name":"Increased circulating 17 hydroxypregnenolone concentration","obsolete":false,"parents":["HP:0031187"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced concentration of dihydrotestosterone in the blood circulation.","id":"HP:0033810","name":"Decreased circulating dihydrotestosterone concentration","obsolete":false,"parents":["HP:0030349"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of androstenedione in the blood circulation.","id":"HP:0033811","name":"Abnormal circulating androstenedione concentration","obsolete":false,"parents":["HP:0030347"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced concentration of androstenedione in the blood circulation.","id":"HP:0033812","name":"Decreased circulating androstenedione concentration","obsolete":false,"parents":["HP:0033811"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Situated or occurring around a lobe of an organ.","id":"HP:0033813","name":"Perilobular","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa.","id":"HP:0033814","name":"Paraseptal","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Centered in bronchi or bronchioles.","id":"HP:0033815","name":"Bronchocentric","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Located in the center of the secondary pulmonary lobules, which are the functional units of the lungs.","id":"HP:0033816","name":"Centrilobular","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Characterized by numerous small lesions said to resemble millet seed.","id":"HP:0033817","name":"Miliary","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality whose distribution and appearance resembles a net or network-like structure.","id":"HP:0033818","name":"Reticular","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality whose distribution and appearance are located at or near lymphatic structures (node or vessel).","id":"HP:0033819","name":"Perilymphatic","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality whose distribution and appearance are located at the apex of an organ. For instance, apical refers to the superior portion of the lung.","id":"HP:0033820","name":"Apical","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A mass in the lung seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).","id":"HP:0033821","name":"Pulmonary mass","obsolete":false,"parents":["HP:0033822"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A mass is any pulmonary, pleural, or mediastinal lesion seen on chest radiographs as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). Mass usually implies a solid or partly solid opacity. CT allows more exact evaluation of size, location, attenuation, and other features.","id":"HP:0033822","name":"Mass on thoracic imaging","obsolete":false,"parents":["HP:0031983"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A mass in the mediastinum seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).","id":"HP:0033823","name":"Mediastinal mass","obsolete":false,"parents":["HP:0033822"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A mass in the pleura seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).","id":"HP:0033824","name":"Pleural mass","obsolete":false,"parents":["HP:0033822"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of mediastinal mass that is located above the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4).","id":"HP:0033825","name":"Superior mediastinal mass","obsolete":false,"parents":["HP:0033823"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of mediastinal mass that is located below the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4).","id":"HP:0033826","name":"Inferior mediastinal mass","obsolete":false,"parents":["HP:0033823"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of inferior mediastinal mass that is located in front of the pericardium.","id":"HP:0033827","name":"Anterior mediastinal mass","obsolete":false,"parents":["HP:0033826"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of inferior mediastinal mass that is located withinthe pericardium.","id":"HP:0033828","name":"Middle mediastinal mass","obsolete":false,"parents":["HP:0033826"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of inferior mediastinal mass that is located behind the pericardium.","id":"HP:0033829","name":"Posterior mediastinal mass","obsolete":false,"parents":["HP:0033826"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of pulmonary mass with high attenuation.","id":"HP:0033830","name":"Hyperdense pulmonary mass","obsolete":false,"parents":["HP:0033821"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Thick-walled abnormal gas-filled interstitial mass within a lung with a diameter greater than 30 mm.","id":"HP:0033831","name":"Cavitating pulmonary mass","obsolete":false,"parents":["HP:0033655","HP:0033821"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels.","id":"HP:0033832","name":"Livedo","obsolete":false,"parents":["HP:0011276"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Livedoid dermatitis"}]} +{"alt_ids":[],"definition":"The concentration of sCD25 (= soluble CD25, = soluble interleukin-2 receptor alpha-chain, = soluble IL-2 receptor alpha) in the blood circulation is above the upper limit of normal.","id":"HP:0033833","name":"Elevated circulating sCD25 concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating interleukin-2 receptor alpha-chain"}]} +{"alt_ids":[],"definition":"A feeling of general discomfort, weakness, or lack of health.","id":"HP:0033834","name":"Malaise","obsolete":false,"parents":["HP:0025142"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anomalous structure of a blood vessel in the kidney.","id":"HP:0033835","name":"Abnormal renal vascular morphology","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomalous structure of an artery located in the kidney.","id":"HP:0033836","name":"Abnormal intrarenal artery morphology","obsolete":false,"parents":["HP:0033835"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal kidney arterial blood vessel morphology"}]} +{"alt_ids":[],"definition":"Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla.","id":"HP:0033837","name":"Abnormal arcuate artery morphology","obsolete":false,"parents":["HP:0033836"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormalities of arcuate arteries"}]} +{"alt_ids":[],"definition":"A pervasive state of negatively valenced emotional unease and dissatisfaction along with an inner discomfort that is disproportionate to external circumstances and may include heightened emotional reactivity. It is associated with a mixture of overlapping negative emotions that are difficult to disentangle.","id":"HP:0033838","name":"Dysphoria","obsolete":false,"parents":["HP:0031467"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Emotional discomfort"},{"scope":"BROAD","text":"Emotional discontent"},{"scope":"BROAD","text":"Emotional discord"},{"scope":"RELATED","text":"Emotional unrest"},{"scope":"EXACT","text":"Emotionally unsettled"},{"scope":"EXACT","text":"Feeling off inside"},{"scope":"EXACT","text":"Ill at ease"},{"scope":"RELATED","text":"Psychological unease"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to one or both testes.","id":"HP:0033839","name":"Testicular pain","obsolete":false,"parents":["HP:0012531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pain in testicles"}]} +{"alt_ids":[],"definition":"Uterine bleeding that occurs after at least one year of amenorrhea in a woman who is not receiving hormone therapy.","id":"HP:0033840","name":"Postmenopausal bleeding","obsolete":false,"parents":["HP:0030012"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching in the region of the eye.","id":"HP:0033841","name":"Ocular pruritus","obsolete":false,"parents":["HP:0000989"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Itchy eyes"},{"scope":"EXACT","text":"Ocular itch"}]} +{"alt_ids":[],"definition":"The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food.","id":"HP:0033842","name":"Early satiety","obsolete":false,"parents":["HP:0011458"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Feeling full quickly when eating"},{"scope":"EXACT","text":"Not able to finish a normal-sized meal"}]} +{"alt_ids":[],"definition":"Feeling excessively full after meals.","id":"HP:0033843","name":"Postprandial fullness","obsolete":false,"parents":["HP:0011458"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An inner sense (from the self) that thoughts are moving abnormally fast and in a manner that the individual typically feels that the rate is beyond their control, i.e. they feel unable to slow the rate of thoughts. Racing thoughts by themselves have a linear progression, following a line of thinking or logic, which distinguishes racing thoughts from flight of ideas. Racing thoughts may however, co-occur with or be independent from flight of ideas, they may be associated with pressured speech or be an internal perception of the rate of thinking. The core element being the rate of the thoughts themselves.","id":"HP:0033844","name":"Racing thoughts","obsolete":false,"parents":["HP:0025781"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Racing thoughts"},{"scope":"EXACT","text":"Tachyphrenia"}]} +{"alt_ids":[],"definition":"A feeling that something life-threatening or tragic is about to occur.","id":"HP:0033845","name":"Sense of impending doom","obsolete":false,"parents":["HP:5200401"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sense of doom"}]} +{"alt_ids":[],"definition":"Reduced amount of myelin in the spinal cord resulting from defective myelinogenesis.","id":"HP:0033846","name":"Spinal hypomyelination","obsolete":false,"parents":["HP:0003429"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of altered taste sensation in which the affected person perceives a taste, usually an unpleasant one, in the absence of a corresponding stimulus in the environment.","id":"HP:0033847","name":"Phantageusia","obsolete":false,"parents":["HP:0000223"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Phantom taste"}]} +{"alt_ids":[],"definition":"A type of aphasia that is characterized by impaired language comprehension.","id":"HP:0033848","name":"Receptive aphasia","obsolete":false,"parents":["HP:0002381"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fluent aphasia"},{"scope":"EXACT","text":"Wernicke aphasia"}]} +{"alt_ids":[],"definition":"The term bilingual aphasia is used to refer to aphasia in persons who speak two or more languages. When a multilingual speaker has aphasia following a stroke, the languages spoken premorbidly may show comparable or differential patterns of impairment. Differential patterns may manifest as greater impairment in one language compared to another, or as differences in the characteristics of aphasia. Clinical reports of bilingual aphasia show dissociations in the processing of the language learned first (L1) and and second (L2), with one language more impaired than the other. Other cases show a pattern of differential recovery where L2 is recovered only after L1. Another pattern is alternating antagonism; i.e., patients access one language in spontaneous speech and inhibit the other language for alternating periods. This term should be used for a type of aphasia in a person who speaks multiple languages in which the impairment is different for different languages.","id":"HP:0033849","name":"Bilingual aphasia","obsolete":false,"parents":["HP:0002381"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Relative coldness of a body part to palpitation, often acccompanied by feelings of coldness.","id":"HP:0033850","name":"Coldness","obsolete":false,"parents":["HP:0025142"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cold skin temperature"},{"scope":"EXACT","text":"Cool skin"},{"scope":"EXACT","text":"Cool skin temperature"},{"scope":"EXACT","text":"Coolness to palpation"}]} +{"alt_ids":[],"definition":"Elevation of the upper eyelid on attempted downward gaze or adduction, adduction of the eye on attempted upward or downward gaze, and constriction of the pupil on attempted adduction.","id":"HP:0033851","name":"Oculomotor synkinesis","obsolete":false,"parents":["HP:0000496"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal structure of a vein located inside the kidney parenchyma.","id":"HP:0033852","name":"Abnormal intrarenal vein morphology","obsolete":false,"parents":["HP:0033835"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla).","id":"HP:0033853","name":"Abnormal arcuate vein morphology","obsolete":false,"parents":["HP:0033852"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct).","id":"HP:0033854","name":"Abnormal interlobular vein morphology","obsolete":false,"parents":["HP:0033852"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly located in the the inside space of the interlobular veins of the kidney.","id":"HP:0033855","name":"Abnormal interlobular vein lumen morphology","obsolete":false,"parents":["HP:0033854"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal morphology of the interlobular vein lumen"}]} +{"alt_ids":[],"definition":"Needle-like or slit-like clefts within the interior space of interlobular veins. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.","id":"HP:0033856","name":"Cholesterol emboli within interlobular vein lumen","obsolete":false,"parents":["HP:0033855"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney.","id":"HP:0033857","name":"Intraluminal thrombi within interlobular veins","obsolete":false,"parents":["HP:0033855"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Thrombi containing fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney.","id":"HP:0033858","name":"Organized thrombi within interlobular vein lumen","obsolete":false,"parents":["HP:0033855"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule,","id":"HP:0033859","name":"Abnormal peritubular capillary morphology","obsolete":false,"parents":["HP:0033835"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anomalous structure of the peritubular capillaries located in the cortex of the kidney.","id":"HP:0033860","name":"Abnormal cortical peritubular capillary morphology","obsolete":false,"parents":["HP:0033859"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers.","id":"HP:0033861","name":"Multilamellation of cortical peritubular capillary basement membranes","obsolete":false,"parents":["HP:0033860"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multilamellation of basement membranes within cortical peritubular capillaries"}]} +{"alt_ids":[],"definition":"Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells.","id":"HP:0033862","name":"Cortical peritubular capillaritis","obsolete":false,"parents":["HP:0033860"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney.","id":"HP:0033863","name":"Abnormal cortical peritubular capillary lumen morphology","obsolete":false,"parents":["HP:0033860"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anomalous structure of the peritubular capillaries located in the medulla of the kidney.","id":"HP:0033864","name":"Abnormal medullary peritubular capillary morphology","obsolete":false,"parents":["HP:0033859"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells.","id":"HP:0033865","name":"Medullary peritubular capillaritis","obsolete":false,"parents":["HP:0033864"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open).","id":"HP:0033866","name":"Medullary peritubular capillary erythrocyte congestion","obsolete":false,"parents":["HP:0033864"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers.","id":"HP:0033867","name":"Multilamellation of medullary peritubular capillary basement membranes","obsolete":false,"parents":["HP:0033864"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multilamellation of basement membranes within medullary peritubular capillaries"}]} +{"alt_ids":[],"definition":"Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney.","id":"HP:0033868","name":"Abnormal medullary peritubular capillary lumen morphology","obsolete":false,"parents":["HP:0033864"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.","id":"HP:0033869","name":"Medullary peritubular capillary lumen cholesterol emboli","obsolete":false,"parents":["HP:0033868"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cholesterol emboli within the medullary peritubular capillary lumen"}]} +{"alt_ids":[],"definition":"Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney.","id":"HP:0033870","name":"Medullary peritubular capillary intraluminal thrombi","obsolete":false,"parents":["HP:0033868"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intraluminal thrombi within medullary peritubular capillaries"}]} +{"alt_ids":[],"definition":"Thrombi containing fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney.","id":"HP:0033871","name":"Medullary peritubular capillary lumen organized thrombi","obsolete":false,"parents":["HP:0033868"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Organised thrombi within the medullary peritubular capillary lumen"},{"scope":"EXACT","text":"Organized thrombi within the medullary peritubular capillary lumen"}]} +{"alt_ids":[],"definition":"Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.","id":"HP:0033872","name":"Cortical peritubular capillary lumen cholesterol emboli","obsolete":false,"parents":["HP:0033863"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney.","id":"HP:0033873","name":"Cortical peritubular capillary intraluminal thrombi","obsolete":false,"parents":["HP:0033863"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intraluminal thrombi within cortical peritubular capillaries"}]} +{"alt_ids":[],"definition":"Thrombi containing fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the cortex of the kidney.","id":"HP:0033874","name":"Cortical peritubular capillary lumen organized thrombi","obsolete":false,"parents":["HP:0033863"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney.","id":"HP:0033875","name":"Abnormal arcuate vein lumen morphology","obsolete":false,"parents":["HP:0033853"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.","id":"HP:0033876","name":"Arcuate vein lumen cholesterol emboli","obsolete":false,"parents":["HP:0033875"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cholesterol emboli within arcuate vein lumen"}]} +{"alt_ids":[],"definition":"Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney.","id":"HP:0033877","name":"Arcuate vein intraluminal thrombi","obsolete":false,"parents":["HP:0033875"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intraluminal thrombi within arcuate veins"}]} +{"alt_ids":[],"definition":"Thrombi containing fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate veins of the kidney.","id":"HP:0033878","name":"Arcuate vein lumen organized thrombi","obsolete":false,"parents":["HP:0033875"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Organised thrombi within arcuate vein lumen"},{"scope":"EXACT","text":"Organized thrombi within arcuate vein lumen"}]} +{"alt_ids":[],"definition":"Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney.","id":"HP:0033879","name":"Abnormal arcuate vein intima/media morphology","obsolete":false,"parents":["HP:0033853"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining.","id":"HP:0033880","name":"Arcuate vein intimal mucoid edema","obsolete":false,"parents":["HP:0033879"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intimal mucoid edema within arcuate veins"},{"scope":"EXACT","text":"Intimal mucoid oedema within arcuate veins"}]} +{"alt_ids":[],"definition":"Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney.","id":"HP:0033881","name":"Arcuate vein intimal/medial myxomatous degeneration","obsolete":false,"parents":["HP:0033879"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Myxomatous change within arcuate vein intima/media"}]} +{"alt_ids":[],"definition":"Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.","id":"HP:0033882","name":"Arcuate vein intima/medial amyloidosis","obsolete":false,"parents":["HP:0033879"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Amyloidosis within arcuate vein intima/media"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney.","id":"HP:0033883","name":"Abnormal cortical radial artery morphology","obsolete":false,"parents":["HP:0033836"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal interlobular artery morphology"}]} +{"alt_ids":[],"definition":"Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney.","id":"HP:0033884","name":"Abnormal cortical radial artery lumen morphology","obsolete":false,"parents":["HP:0033883"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal interlobular arterial lumen morphology"}]} +{"alt_ids":[],"definition":"Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.","id":"HP:0033885","name":"Cortical radial artery lumen cholesterol emboli","obsolete":false,"parents":["HP:0033884"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla.","id":"HP:0033886","name":"Abnormal arcuate artery intima/media morphology","obsolete":false,"parents":["HP:0033837"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormalities of the arcuate arterial intima/media"}]} +{"alt_ids":[],"definition":"Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy","id":"HP:0033887","name":"Cortical radial artery intimal/medial amyloidosis","obsolete":false,"parents":["HP:0033888"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Amyloidosis within interlobular arterial intima/media"},{"scope":"EXACT","text":"Interlobular arterial intima/media amyloidosis"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney.","id":"HP:0033888","name":"Abnormal cortical radial artery intima/media morphology","obsolete":false,"parents":["HP:0033883"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormalities of the interlobular arterial intima/media"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents.","id":"HP:0033889","name":"Abnormal renal arteriole morphology","obsolete":false,"parents":["HP:0033835"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal structural characteristics of the interior space (lumen) of renal arterioles.","id":"HP:0033890","name":"Abnormal renal arteriole lumen morphology","obsolete":false,"parents":["HP:0033889"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.","id":"HP:0033891","name":"Renal arteriolar lumen cholesterol emboli","obsolete":false,"parents":["HP:0033890"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cholesterol emboli within the arteriolar lumen"}]} +{"alt_ids":[],"definition":"Any structural anomaly located in the inner or middle layer of the arterioles of the kidney.","id":"HP:0033892","name":"Abnormal renal arteriole intima/media morphology","obsolete":false,"parents":["HP:0033889"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Thrombi containing fibrous tissue and capillary-like vascular channels located within the lumen of the arterioles of the kidney.","id":"HP:0033893","name":"Renal arteriolar lumen organized thrombi","obsolete":false,"parents":["HP:0033890"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney.","id":"HP:0033894","name":"Renal arteriolar intraluminal thrombi","obsolete":false,"parents":["HP:0033890"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the lining (endothelium) of the arterioles of the kidney.","id":"HP:0033895","name":"Abnormal renal arteriole endothelium morphology","obsolete":false,"parents":["HP:0033889"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney.","id":"HP:0033896","name":"Abnormal arcuate artery lumen morphology","obsolete":false,"parents":["HP:0033837"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormalities of the arcuate arterial lumen"}]} +{"alt_ids":[],"definition":"Needle-like or slit-like clefts within the interior space of arcuate arteries of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.","id":"HP:0033897","name":"Arcuate artery lumen cholesterol emboli","obsolete":false,"parents":["HP:0033896"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cholesterol emboli within arcuate arterial lumen"}]} +{"alt_ids":[],"definition":"Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney.","id":"HP:0033898","name":"Arcuate artery intraluminal thrombi","obsolete":false,"parents":["HP:0033896"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intraluminal thrombi within arcuate arterial lumen"}]} +{"alt_ids":[],"definition":"Thrombi containing fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney.","id":"HP:0033899","name":"Arcuate artery lumen organized thrombi","obsolete":false,"parents":["HP:0033896"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Organised thrombi within arcuate arterial lumen"},{"scope":"EXACT","text":"Organized thrombi within arcuate arterial lumen"}]} +{"alt_ids":[],"definition":"Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.","id":"HP:0033900","name":"Renal arteriole intima/media amyloidosis","obsolete":false,"parents":["HP:0033892"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Amyloidosis within renal arteriolar intima/media"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney.","id":"HP:0033901","name":"Abnormal arcuate artery endothelium morphology","obsolete":false,"parents":["HP:0033837"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling.","id":"HP:0033902","name":"Arcuate artery endotheliosis","obsolete":false,"parents":["HP:0033901"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Endotheliosis within arcuate arteries"}]} +{"alt_ids":[],"definition":"Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney.","id":"HP:0033903","name":"Arcuate artery endoarterial hypercellularity","obsolete":false,"parents":["HP:0033901"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Endoarterial hypercellularity within arcuate artery"}]} +{"alt_ids":[],"definition":"Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis.","id":"HP:0033904","name":"Renal arteriole intima/media hyalinosis","obsolete":false,"parents":["HP:0033892"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina.","id":"HP:0033905","name":"Arcuate artery intima/media arteriosclerosis","obsolete":false,"parents":["HP:0033886"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Arteriosclerosis within arcuate arterial intima/media"}]} +{"alt_ids":[],"definition":"Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural.","id":"HP:0033906","name":"Renal intimal/medial arteriolitis","obsolete":false,"parents":["HP:0033892"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina.","id":"HP:0033907","name":"Renal arteriole intima/media arteriolosclerosis","obsolete":false,"parents":["HP:0033892"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney.","id":"HP:0033908","name":"Renal arteriole medial atrophy","obsolete":false,"parents":["HP:0033892"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased thickness of middle layer of the arcuate veins of the kidney.","id":"HP:0033909","name":"Arcuate vein medial hypertrophy","obsolete":false,"parents":["HP:0033879"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Medial hypertrophy within arcuate veins"}]} +{"alt_ids":[],"definition":"Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney.","id":"HP:0033910","name":"Arcuate vein medial atrophy","obsolete":false,"parents":["HP:0033879"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Medial atrophy within arcuate veins"}]} +{"alt_ids":[],"definition":"Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.","id":"HP:0033911","name":"Cortical radial artery medial hypertrophy","obsolete":false,"parents":["HP:0033888"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Interlobular artery medial hypertrophy"},{"scope":"EXACT","text":"Medial hypertrophy within interlobular arteries"}]} +{"alt_ids":[],"definition":"Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.","id":"HP:0033912","name":"Cortical radial artery medial atrophy","obsolete":false,"parents":["HP:0033888"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Interlobular artery medial atrophy"},{"scope":"EXACT","text":"Medial atrophy within interlobular arteries"}]} +{"alt_ids":[],"definition":"Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney.","id":"HP:0033913","name":"Cortical radial artery medial/intimal arteriitis","obsolete":false,"parents":["HP:0033888"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Arteritis within interlobular arterial intima/media"},{"scope":"EXACT","text":"Interlobular artery medial/intimal arteriitis"}]} +{"alt_ids":[],"definition":"Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.","id":"HP:0033914","name":"Arcuate artery intima/media amyloidosis","obsolete":false,"parents":["HP:0033886"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Amyloidosis within arcuate arterial intima/media"}]} +{"alt_ids":[],"definition":"Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining.","id":"HP:0033915","name":"Arcuate artery intimal mucoid edema","obsolete":false,"parents":["HP:0033886"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins.","id":"HP:0033916","name":"Medial/intimal arcuate venosclerosis","obsolete":false,"parents":["HP:0033879"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0033919"],"definition":"Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural.","id":"HP:0033917","name":"Arcuate intimal/medial venulitis","obsolete":false,"parents":["HP:0033879"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Medial/intimal arcuate venulitis"},{"scope":"EXACT","text":"Venulitis within arcuate vein intima/media"}]} +{"alt_ids":[],"definition":"Increased thickness of middle layer of the arterioles of the kidney.","id":"HP:0033918","name":"Renal arteriole medial hypertrophy","obsolete":false,"parents":["HP:0033892"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Medial hypertrophy within arterioles"}]} +{"alt_ids":[],"definition":null,"id":"HP:0033919","name":"obsolete Medial/intimal arcuate venulitis","obsolete":true,"parents":[],"replaced_by":["HP:0033917"],"synonyms":[]} +{"alt_ids":[],"definition":"Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney.","id":"HP:0033920","name":"Renal arteriole intima/media storage material accumulation","obsolete":false,"parents":["HP:0033892"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Accumulated storage material within arteriolar intima/media"}]} +{"alt_ids":[],"definition":"Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney.","id":"HP:0033921","name":"Renal arteriole endoarterial hypercellularity","obsolete":false,"parents":["HP:0033895"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Endoarterial hypercellularity within arterioles"}]} +{"alt_ids":[],"definition":"A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes).","id":"HP:0033922","name":"Renal arteriole leukocytic endoarterial hypercellularity","obsolete":false,"parents":["HP:0033921"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen.","id":"HP:0033923","name":"Renal arteriole foam cell endoarterial hypercellularity","obsolete":false,"parents":["HP:0033922"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Endoarterial hypercellularity within arterioles consisting of foam cells"}]} +{"alt_ids":[],"definition":"A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen.","id":"HP:0033924","name":"Renal arteriole neutrophil endoarterial hypercellularity","obsolete":false,"parents":["HP:0033922"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Endoarterial hypercellularity within arterioles consisting of neutrophils"}]} +{"alt_ids":[],"definition":"A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen.","id":"HP:0033925","name":"Renal arteriole lymphocyte endoarterial hypercellularity","obsolete":false,"parents":["HP:0033922"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Endoarterial hypercellularity within arterioles consisting of lymphocytes"}]} +{"alt_ids":[],"definition":"Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney.","id":"HP:0033926","name":"Renal arteriole intimal/medial multilamellation","obsolete":false,"parents":["HP:0033892"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multilamellation (onion skinning) within renal arteriole intima/media"},{"scope":"EXACT","text":"Renal arteriole intima/media multilamellation"},{"scope":"EXACT","text":"Renal arteriole intimal/medial onion skinning"}]} +{"alt_ids":[],"definition":"Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes).","id":"HP:0033927","name":"Arcuate artery endoarterial leukocyte hypercellularity","obsolete":false,"parents":["HP:0033903"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Endoarterial hypercellularity within arcuate artery consisting of leukocytes"}]} +{"alt_ids":[],"definition":"A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen.","id":"HP:0033928","name":"Arcuate artery endoarterial foam cell hypercellularity","obsolete":false,"parents":["HP:0033927"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Endoarterial hypercellularity within arcuate artery consisting of foam cells"}]} +{"alt_ids":[],"definition":"A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery.","id":"HP:0033929","name":"Arcuate artery endoarterial neutrophil hypercellularity","obsolete":false,"parents":["HP:0033927"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Endoarterial hypercellularity within arcuate artery consisting of neutrophils"}]} +{"alt_ids":[],"definition":"A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery.","id":"HP:0033930","name":"Arcuate artery endoarterial lymphocyte hypercellularity","obsolete":false,"parents":["HP:0033927"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Endoarterial hypercellularity within arcuate artery consisting of lymphocytes"}]} +{"alt_ids":[],"definition":"Death of tissue in the inner or middle layer of the arcuate artery of the kidney.","id":"HP:0033931","name":"Arcuate artery intima/media necrosis","obsolete":false,"parents":["HP:0033886"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures.","id":"HP:0033932","name":"Arcuate artery intima/media coagulative necrosis","obsolete":false,"parents":["HP:0033931"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Coagulative necrosis within interlobular arterial intima/media"}]} +{"alt_ids":[],"definition":"A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.","id":"HP:0033933","name":"Arcuate artery intima/media liquefactive necrosis","obsolete":false,"parents":["HP:0033931"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Liquefactive necrosis of the arcuate artery intima/media"}]} +{"alt_ids":[],"definition":"Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney.","id":"HP:0033934","name":"Arcuate vein intimal/medial storage material accumulation","obsolete":false,"parents":["HP:0033879"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multilamellation (onion skinning) within arteriolar intima/media"},{"scope":"EXACT","text":"Renal arteriole intima/media onion skinning"}]} +{"alt_ids":[],"definition":"Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.","id":"HP:0033935","name":"Cortical radial artery intima/media necrosis","obsolete":false,"parents":["HP:0033888"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Necrosis within interlobular arterial intima/media"}]} +{"alt_ids":[],"definition":"A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.","id":"HP:0033936","name":"Cortical radial artery intima/media liquefactive necrosis","obsolete":false,"parents":["HP:0033935"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Liquefactive necrosis within interlobular arterial intima/media"}]} +{"alt_ids":[],"definition":"A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.","id":"HP:0033937","name":"Cortical radial artery intima/media coagulative necrosis","obsolete":false,"parents":["HP:0033935"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney.","id":"HP:0033938","name":"Renal arteriole intima/media necrosis","obsolete":false,"parents":["HP:0033892"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.","id":"HP:0033939","name":"Renal arteriole intima/media liquefactive necrosis","obsolete":false,"parents":["HP:0033938"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Liquefactive necrosis of the renal arteriolar intima/media"}]} +{"alt_ids":[],"definition":"A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.","id":"HP:0033940","name":"Renal arteriole intima/media coagulative necrosis","obsolete":false,"parents":["HP:0033938"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.","id":"HP:0033941","name":"Granulomatous arteriolitis of the arteriolar intima/media","obsolete":false,"parents":["HP:0033906"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Granulomatous arteriolitis within arteriolar intima/media"}]} +{"alt_ids":[],"definition":"Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney.","id":"HP:0033942","name":"Arcuate vein medial/intimal necrosis","obsolete":false,"parents":["HP:0033879"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Necrosis within arcuate vein intima/media"}]} +{"alt_ids":[],"definition":"A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.","id":"HP:0033943","name":"Arcuate vein medial/intimal coagulative necrosis","obsolete":false,"parents":["HP:0033942"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Coagulative necrosis within arcuate vein intima/media"}]} +{"alt_ids":[],"definition":"A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.","id":"HP:0033944","name":"Arcuate vein medial/intimal liquefactive necrosis","obsolete":false,"parents":["HP:0033942"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Liquefactive necrosis within arcuate vein intima/media"}]} +{"alt_ids":[],"definition":"A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins.","id":"HP:0033945","name":"Arcuate intimal/medial granulomatous venulitis","obsolete":false,"parents":["HP:0033917"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney.","id":"HP:0033946","name":"Arcuate vein intima/media crystal accumulation","obsolete":false,"parents":["HP:0033879"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney.","id":"HP:0033947","name":"Renal arteriole intima/media crystal accumulation","obsolete":false,"parents":["HP:0033892"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Accumulated crystals within renal arteriolar intima/media"}]} +{"alt_ids":[],"definition":"Inflammation of the inner or middle layer of the arcuate arteries of the kidney.","id":"HP:0033948","name":"Arcuate artery intima/media arteriitis","obsolete":false,"parents":["HP:0033886"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Arteritis within arcuate arterial intima/media"}]} +{"alt_ids":[],"definition":"A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.","id":"HP:0033949","name":"Arcuate artery intima/media granulomatous arteriitis","obsolete":false,"parents":["HP:0033948"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Granulomatous arteritis within arcuate arterial intima/media"}]} +{"alt_ids":[],"definition":"Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney.","id":"HP:0033950","name":"Cortical radial artery intraluminal thrombi","obsolete":false,"parents":["HP:0033884"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intraluminal thrombi within interlobular arterial lumen"}]} +{"alt_ids":[],"definition":"Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney.","id":"HP:0033951","name":"Cortical radial artery intraluminal organized thrombi","obsolete":false,"parents":["HP:0033950"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Organised thrombi within interlobular arterial lumen"},{"scope":"EXACT","text":"Organized thrombi within interlobular arterial lumen"}]} +{"alt_ids":[],"definition":"Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney.","id":"HP:0033952","name":"Abnormal cortical radial artery endothelium morphology","obsolete":false,"parents":["HP:0033883"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormalities of the interlobular arterial endothelium"}]} +{"alt_ids":[],"definition":"Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling.","id":"HP:0033953","name":"Cortical radial artery endotheliosis","obsolete":false,"parents":["HP:0033952"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Endotheliosis within interlobular arteries"}]} +{"alt_ids":[],"definition":"Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney.","id":"HP:0033954","name":"Cortical radial artery hypercellularity","obsolete":false,"parents":["HP:0033952"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Endoarterial hypercellularity within interlobular artery"}]} +{"alt_ids":[],"definition":"A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes).","id":"HP:0033955","name":"Cortical radial artery leukocyte hypercellularity","obsolete":false,"parents":["HP:0033954"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Endoarterial hypercellularity within interlobular artery consisting of leukocytes"}]} +{"alt_ids":[],"definition":"A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries.","id":"HP:0033956","name":"Cortical radial artery lymphocyte hypercellularity","obsolete":false,"parents":["HP:0033955"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Endoarterial hypercellularity within interlobular artery consisting of lymphocytes"}]} +{"alt_ids":[],"definition":"A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries.","id":"HP:0033957","name":"Cortical radial artery neutrophil hypercellularity","obsolete":false,"parents":["HP:0033955"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Endocapillary hypercellularity within interlobular arterial endothelium consisting of neutrophils"}]} +{"alt_ids":[],"definition":"A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney.","id":"HP:0033958","name":"Cortical radial artery foam cell hypercellularity","obsolete":false,"parents":["HP:0033955"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Endocapillary hypercellularity within interlobular arterial endothelium consisting of foam cells"}]} +{"alt_ids":[],"definition":"Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina.","id":"HP:0033959","name":"Cortical radial artery intima/media arteriosclerosis","obsolete":false,"parents":["HP:0033888"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Arteriosclerosis within interlobular arterial intima/media"}]} +{"alt_ids":[],"definition":"Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining.","id":"HP:0033960","name":"Cortical radial artery intimal mucoid edema","obsolete":false,"parents":["HP:0033888"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intimal mucoid edema within interlobular arterial intima/media"},{"scope":"EXACT","text":"Intimal mucoid oedema within interlobular arterial intima/media"}]} +{"alt_ids":[],"definition":"Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers.","id":"HP:0033961","name":"Cortical radial artery intima/media multilamellation","obsolete":false,"parents":["HP:0033888"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cortical radial artery intima/media onion skinning"},{"scope":"EXACT","text":"Multilamellation (onion skinning) within interlobular arterial intima/media"}]} +{"alt_ids":[],"definition":"A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.","id":"HP:0033962","name":"Cortical radial artery medial/intimal granulomatous arteriitis","obsolete":false,"parents":["HP:0033913"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney.","id":"HP:0033963","name":"Abnormal interlobular vein intima/media morphology","obsolete":false,"parents":["HP:0033854"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney.","id":"HP:0033964","name":"Interlobular intima/media venosclerosis","obsolete":false,"parents":["HP:0033963"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Venosclerosis within interlobular vein intima/media"}]} +{"alt_ids":[],"definition":"Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining.","id":"HP:0033965","name":"Interlobular vein intimal mucoid edema","obsolete":false,"parents":["HP:0033963"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intimal mucoid edema within interlobular veins"},{"scope":"EXACT","text":"Intimal mucoid oedema within interlobular veins"}]} +{"alt_ids":[],"definition":"Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy","id":"HP:0033966","name":"Interlobular vein intima/media amyloidosis","obsolete":false,"parents":["HP:0033963"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Amyloidosis within interlobular vein intima/media"}]} +{"alt_ids":[],"definition":"Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural.","id":"HP:0033967","name":"Interlobular vein intima/media venulitis","obsolete":false,"parents":["HP:0033963"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Venulitis within interlobular vein intima/media"}]} +{"alt_ids":[],"definition":"A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins.","id":"HP:0033968","name":"Interlobular vein intima/media granulomatous venulitis","obsolete":false,"parents":["HP:0033967"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Granulomatous venulitis within interlobular vein intima/media"}]} +{"alt_ids":[],"definition":"Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney.","id":"HP:0033969","name":"Interlobular vein intima/media necrosis","obsolete":false,"parents":["HP:0033963"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Necrosis within interlobular vein intima/media"}]} +{"alt_ids":[],"definition":"A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.","id":"HP:0033970","name":"Interlobular vein intima/media liquefactive necrosis","obsolete":false,"parents":["HP:0033969"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Liquefactive necrosis within interlobular vein intima/media"}]} +{"alt_ids":[],"definition":"A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.","id":"HP:0033971","name":"Interlobular vein intima/media coagulative necrosis","obsolete":false,"parents":["HP:0033969"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney.","id":"HP:0033972","name":"Interlobular vein medial atrophy","obsolete":false,"parents":["HP:0033963"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Medial atrophy within interlobular veins"}]} +{"alt_ids":[],"definition":"Increased thickness of middle layer of the interlobular veins of the kidney.","id":"HP:0033973","name":"Interlobular vein medial hypertrophy","obsolete":false,"parents":["HP:0033963"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Medial hypertrophy within interlobular veins"}]} +{"alt_ids":[],"definition":"Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers.","id":"HP:0033974","name":"Interlobular vein intima/media multilamellation","obsolete":false,"parents":["HP:0033963"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Interlobular vein intima/media onion skinning"},{"scope":"EXACT","text":"Multilamellation (onion skinning) within interlobular vein intima/media"}]} +{"alt_ids":[],"definition":"Absence of the fingernail of the index (second) finger.","id":"HP:0033975","name":"Absent second fingernail","obsolete":false,"parents":["HP:0001817"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of an extra nail on the palmar (volar, ventral) surface of the finger.","id":"HP:0033976","name":"Volar fingernail","obsolete":false,"parents":["HP:0001231"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Palmar fingernail"},{"scope":"EXACT","text":"Ventral fingernail"}]} +{"alt_ids":[],"definition":"Absent talus owing to a congenital defect.","id":"HP:0033977","name":"Talar aplasia","obsolete":false,"parents":["HP:0008365"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent talus"},{"scope":"EXACT","text":"Talus aplasia"}]} +{"alt_ids":[],"definition":"Diminished activity of the enzyme beta-hexosaminidase in the blood circulation.","id":"HP:0033978","name":"Reduced beta-hexosaminidase B activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hexosaminidase B low in blood"}]} +{"alt_ids":[],"definition":"Excessive anterior displacement of the tracheal and/or bronchial membranous wall.","id":"HP:0033979","name":"Excessive dynamic airway collapse","obsolete":false,"parents":["HP:0002786"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Membranous tracheobronchomalacia"}]} +{"alt_ids":[],"definition":"Recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness.","id":"HP:0033980","name":"Paroxysmal tonic upgaze","obsolete":false,"parents":["HP:0000496"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal tortuous (i.e., twisted) form of the vertebral arteries.","id":"HP:0033981","name":"Vertebral artery tortuosity","obsolete":false,"parents":["HP:0005116","HP:0030321"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tortuous vertebral arteries"}]} +{"alt_ids":[],"definition":"A separation (dissection) of the layers of the celiac artery wall.","id":"HP:0033982","name":"Celiac artery dissection","obsolete":false,"parents":["HP:0012326"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of apolipoprotein C-II in the blood circulation is below the lower limit of normal.","id":"HP:0033983","name":"Decreased circulating apolipoprotein C-II concentration","obsolete":false,"parents":["HP:0033459"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased apolipoprotein C-II concentration"},{"scope":"EXACT","text":"Decreased apolipoprotein C-II level"},{"scope":"EXACT","text":"Decreased apolipoprotein C-II level in blood"},{"scope":"EXACT","text":"Decreased plasma apolipoprotein C-II"},{"scope":"EXACT","text":"Reduced apolipoprotein C-II concentration"},{"scope":"EXACT","text":"Reduced apolipoprotein C-II level"},{"scope":"EXACT","text":"Reduced apolipoprotein C-II level in blood"}]} +{"alt_ids":[],"definition":"An elevated amount of 8-oxo-7,8-dihydroguanosine in the urine.","id":"HP:0033984","name":"Increased urinary 8-oxo-7,8-dihydroguanosine level","obsolete":false,"parents":["HP:0033161"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased urinary 8-oxo-7,8-dihydroguanosine"},{"scope":"EXACT","text":"Increased urinary 8-oxo-Gsn level"},{"scope":"EXACT","text":"Increased urine 8-oxo-7,8-dihydroguanosine"},{"scope":"EXACT","text":"Increased urine 8-oxo-GMP"}]} +{"alt_ids":[],"definition":"Increased length of the neck of the femur.","id":"HP:0033985","name":"Elongated femoral neck","obsolete":false,"parents":["HP:0003367"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Long femoral neck"}]} +{"alt_ids":[],"definition":"The presence of an increased number of twists and turns of lymphatic vessels.","id":"HP:0033986","name":"Tortuous lymphatic vessels","obsolete":false,"parents":["HP:0100766"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tortuous lymphatics"}]} +{"alt_ids":[],"definition":"A rare, endocrine active tumor that causes severe renal phosphate wasting, which in turn can lead to critical osteomalacia. Phosphaturic mesenchymal tumors (PMTs) are typically small and mostly benign tumors producing fibroblast growth factor 23 (FGF-23). FGF-23 lowers the expression of sodium/phosphate cotransporters, which are the primary transport proteins responsible for phosphate reabsorption in the kidneys. The paraneoplastic overproduction of FGF-23 lowers reabsorption of phosphate and causes severe paraneoplastic renal phosphate wasting and hypophosphatemia. FGF-23 also affects vitamin D levels by lowering 25-hydroxyvitamin D 1-alpha-hydroxylase in the proximal renal tubules and by increasing the expression of vitamin D 24-hydroxylase, a mitochondrial enzyme responsible for inactivating vitamin D metabolites.","id":"HP:0033987","name":"Phosphaturic mesenchymal tumor","obsolete":false,"parents":["HP:0031459"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An infarct located in the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe that can only be observed microscopically.","id":"HP:0033988","name":"Amygdala microinfarct","obsolete":false,"parents":["HP:0033668"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An infarct located in the structure of the cerebrum involved with memory storage and spatial navigation that can only be observed microscopically.","id":"HP:0033989","name":"Hippocampal microinfarct","obsolete":false,"parents":["HP:0025100"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Softening of the tracheal and/or bronchial cartilage resulting in segmental tracheal and/or bronchial weakness.","id":"HP:0033990","name":"Cartilaginous tracheobronchomalacia","obsolete":false,"parents":["HP:0002786"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cartilaginous malacia"}]} +{"alt_ids":[],"definition":"Vasa previa occurs when the membranes that contain the umbilical cord traverse the membranes overlying the internal os of the cervix. There is a high risk of fetal mortality if not identified perinatally.","id":"HP:0033991","name":"Vasa previa","obsolete":false,"parents":["HP:0011418"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inability of the heart to increase its rate commensurate with increased activity or demand.","id":"HP:0033992","name":"Chronotropic incompetence","obsolete":false,"parents":["HP:0011025"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An inflammation of brain parenchyma due to infection with a virus. Viral encephalitis can occur as a rare complication of common infections (eg, herpes virus infections) or can occur as a characteristic presentation of rare viruses (eg, rabies virus infection). Encephalitis may be the only neurologic manifestation of infection, or may occur in association with meningitis, myelitis, radiculitis, or neuritis. Viral encephalitis is associated with neurological dysfunction.","id":"HP:0033993","name":"Viral encephalitis","obsolete":false,"parents":["HP:0002383","HP:0032169","HP:0034317"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition.","id":"HP:0033994","name":"Dependency on parenteral nutrition","obsolete":false,"parents":["HP:0011968"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of vacuoles bearing centripetal microvilli in small gut villus enterocytes.","id":"HP:0033995","name":"Microvillus inclusions","obsolete":false,"parents":["HP:0011472"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presenceaccumulationof periodic acid-Schiff (PAS) granules in the subapical region of small intenstinal microvilli, appearing as different kinds of vesicular/tubular structures.","id":"HP:0033996","name":"Microvillar PAS-positive secretory granules","obsolete":false,"parents":["HP:0011472"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Formation of vacuoles, i.e., membrane-bound organelles, in the portion of the cytoplasm near the nucleus within myocytes of the heart.","id":"HP:0033997","name":"Perinuclear cardiomyocyte vacuolization","obsolete":false,"parents":["HP:0031331"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect of pulmonary lobation characterized by the presence of only one lobe of the right lung, which normally has three lobes.","id":"HP:0033998","name":"Single-lobed right lung","obsolete":false,"parents":["HP:0002101"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bronchial hemorrhage is a focal bleeding located in the bronchial system. It can be diagnosed by tracheobronchoscopy.","id":"HP:0033999","name":"Bronchial hemorrhage","obsolete":false,"parents":["HP:0025426"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bronchial bleeding"}]} +{"alt_ids":[],"definition":"Tracheal hemorrhage is a focal bleeding within the trachea. It be diagnosed by tracheobronchoscopy.","id":"HP:0034000","name":"Tracheal hemorrhage","obsolete":false,"parents":["HP:0002778"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tracheal bleeding"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against complement factor H.","id":"HP:0034001","name":"Anti-Complement factor H antibody positivity","obsolete":false,"parents":["HP:6001536"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CFH autoantibodies"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the phospholipase A2 receptor.","id":"HP:0034002","name":"Anti-phospholipase A2 receptor antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-PLA2R antibody positivity"}]} +{"alt_ids":[],"definition":"Regional increase in the width (height) of the middle portion of the eyebrow.","id":"HP:0034003","name":"Broad medial eyebrow","obsolete":false,"parents":["HP:0011229"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Medial broadening of eyebrows"}]} +{"alt_ids":[],"definition":"Misperception of existing odor, that is, distorted or altered olfactory perception in the presence of known stimuli.","id":"HP:0034004","name":"Parosmia","obsolete":false,"parents":["HP:0004408"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal reduction in the amount of spines on a given dendrite.","id":"HP:0034005","name":"Decreased dendritic spine number","obsolete":false,"parents":["HP:0500032"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A decreased amount of the urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) as compared to hydroxylysyl-pyridinoline (HP, or pyridinoline PYD). Both are established biochemical markers of osteoclastic bone resorption and collagen degradation.","id":"HP:0034006","name":"Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of atrophy (wasting) of the posterior portion of the corpus callosum.","id":"HP:0034007","name":"Posterior atrophy of corpus callosum","obsolete":false,"parents":["HP:0033725"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Wasting (atrophy) of the optic chiasm.","id":"HP:0034008","name":"Opto-chiasmatic atrophy","obsolete":false,"parents":["HP:0025163"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Overgrowth of fat in the perivesical and perirectal area.","id":"HP:0034009","name":"Pelvic lipomatosis","obsolete":false,"parents":["HP:0001012"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow.","id":"HP:0034010","name":"Increased megakaryocyte colony forming unit count","obsolete":false,"parents":["HP:0012143"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion.","id":"HP:0034011","name":"Reduced progressive sperm motility","obsolete":false,"parents":["HP:0012206"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Non-progressive sperm motility"}]} +{"alt_ids":[],"definition":"Decreased sweating on the palms and soles.","id":"HP:0034012","name":"Palmoplantar hypohidrosis","obsolete":false,"parents":["HP:0000966"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of pericallosal lipoma that is thin and curves around the posterior end of the splenium of the corpus callosum.","id":"HP:0034013","name":"Curvilinear pericallosal lipoma","obsolete":false,"parents":["HP:0006931"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of pericallosal lipoma with a rounded or lobular appearance and a diameter that is usually above 2 cm. They are anteriorly situated and are associated with extensive callosal and often fronto-facial anomalies. A tubulonodular pericallosal lipoma can extend into the choroid plexus or lateral ventricles.","id":"HP:0034014","name":"Tubulonodular pericallosal lipoma","obsolete":false,"parents":["HP:0006931"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Thick-walled abnormal gas-filled interstitial nodule within a lung.","id":"HP:0034015","name":"Cavitating pulmonary nodule","obsolete":false,"parents":["HP:0033655"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen (HLA).","id":"HP:0034016","name":"Anti-HLA antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-human leukocyte antigen antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class I (A, B, and C).","id":"HP:0034017","name":"Anti-class I HLA antibody positivity","obsolete":false,"parents":["HP:0034016"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class II human leukocyte antigen (HLA). Class I HLA corresponds to MHC class II (DP, DM, DO, DQ, and DR).","id":"HP:0034018","name":"Anti-class II HLA antibody positivity","obsolete":false,"parents":["HP:0034016"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-A (HLA-A).","id":"HP:0034019","name":"Anti-HLA-A antibody positivity","obsolete":false,"parents":["HP:0034017"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A).","id":"HP:0034020","name":"Anti-HLA-A IgG1 antibody positivity","obsolete":false,"parents":["HP:0034019"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A).","id":"HP:0034021","name":"Anti-HLA-A IgG3 antibody positivity","obsolete":false,"parents":["HP:0034019"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-B (HLA-B).","id":"HP:0034022","name":"Anti-HLA-B antibody positivity","obsolete":false,"parents":["HP:0034017"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B).","id":"HP:0034023","name":"Anti-HLA-B IgG1 antibody positivity","obsolete":false,"parents":["HP:0034022"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B).","id":"HP:0034024","name":"Anti-HLA-B IgG3 antibody positivity","obsolete":false,"parents":["HP:0034022"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of gamma-aminobutyric acid in the blood circulation.","id":"HP:0034025","name":"Abnormal circulating GABA concentration","obsolete":false,"parents":["HP:0033109"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal gamma-aminobutyric acid level"}]} +{"alt_ids":["HP:0034994"],"definition":"An increased concentration of saccharopine in the blood circulation. L-saccharopine is the N(6)-(1,3-dicarboxypropan-1-yl) derivative of L-lysine.","id":"HP:0034026","name":"Elevated circulating saccharopine concentration","obsolete":false,"parents":["HP:0033109"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0034027","name":"obsolete Abnormal urinary non-proteinogenic amino acid level","obsolete":true,"parents":[],"replaced_by":["HP:0033098"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0034028","name":"obsolete Saccharopinuria","obsolete":true,"parents":[],"replaced_by":["HP:6000283"],"synonyms":[]} +{"alt_ids":["HP:6000159"],"definition":"The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the liver.","id":"HP:0034029","name":"Hepatic foam cells","obsolete":false,"parents":["HP:0003651","HP:0030146"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foamy cells on hepatic biopsy"},{"scope":"EXACT","text":"Hepatic lipid-laden macrophage infiltration"},{"scope":"EXACT","text":"Liver biopsy: lipid-laden macrophages"}]} +{"alt_ids":[],"definition":"Bluish discoloration of the lips.","id":"HP:0034030","name":"Lip cyanosis","obsolete":false,"parents":["HP:0034031"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bluish lips"},{"scope":"EXACT","text":"Cyanotic lips"},{"scope":"EXACT","text":"Labial cyanosis"}]} +{"alt_ids":[],"definition":"Bluish discoloration of one or more regions of the face.","id":"HP:0034031","name":"Facial cyanosis","obsolete":false,"parents":["HP:0034033"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bluish face"},{"scope":"EXACT","text":"Cyanotic face"}]} +{"alt_ids":[],"definition":"Generalized bluish discoloration of the body and the visible mucous membranes, which occurs due to inadequate oxygenation secondary to conditions that lead to an increase in deoxygenated hemoglobin or presence of abnormal hemoglobin.","id":"HP:0034032","name":"Central cyanosis","obsolete":false,"parents":["HP:0000961"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bluish discoloration of the distal extremities in the absence of cold temperature or stress. Peripheral cyanosis can involve hands, fingertips, or toes, and sometimes circumoral and periorbital areas. Mucous membranes are generally not involved.","id":"HP:0034033","name":"Peripheral cyanosis","obsolete":false,"parents":["HP:0000961"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Differential degree of bluish discoloration between the upper and lower extremities.","id":"HP:0034034","name":"Differential cyanosis","obsolete":false,"parents":["HP:0000961"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fluid exuded from the posterior wall of the pharynx.","id":"HP:0034035","name":"Pharyngeal exudate","obsolete":false,"parents":["HP:0033151"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fluid from the pharynx"},{"scope":"EXACT","text":"Pharyngeal fluid"}]} +{"alt_ids":[],"definition":"Inflammatory chilblain-like nodules on the feet and/or toes.","id":"HP:0034036","name":"Pseudo-chilblains on toes","obsolete":false,"parents":["HP:0033696"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"COVID toe"},{"scope":"EXACT","text":"Chilblain-like toe lesions"},{"scope":"EXACT","text":"Chilblain-like toes"}]} +{"alt_ids":[],"definition":"Inflammatory chilblain-like nodules on the hands and/or fingers.","id":"HP:0034037","name":"Pseudo-chilblains on fingers","obsolete":false,"parents":["HP:0033696"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"COVID finger"},{"scope":"EXACT","text":"COVID fingers"}]} +{"alt_ids":[],"definition":"Abnormally low blood oxygen level without the presence of dyspnea.","id":"HP:0034038","name":"Silent hypoxemia","obsolete":false,"parents":["HP:0012418"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Two consecutive premature ventricular contractions (PVCs) with no intervening normal beats.","id":"HP:0034039","name":"Ventricular couplet","obsolete":false,"parents":["HP:0006682"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Doublet premature ventricular contractions"}]} +{"alt_ids":[],"definition":"Bidirectional ventricular tachycardia (BDVT) is a regular ventricular tachyarrhythmia (VT) with two different QRS morphologies alternating at a rate typically between 140 and 180 bpm.","id":"HP:0034040","name":"Bidirectional ventricular tachycardia","obsolete":false,"parents":["HP:0004756"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0034041","name":"obsolete Ventricular ectopy","obsolete":true,"parents":[],"replaced_by":["HP:0006682"],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally increased hair growth in the lskin of the back.","id":"HP:0034042","name":"Dorsal hirsutism","obsolete":false,"parents":["HP:0009889"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Elevated amount of bile acids in the feces.","id":"HP:0034043","name":"Increased fecal bile acid","obsolete":false,"parents":["HP:0031685"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Spurs at the medial and lateral acetabular margin and in the center of the acetabulum gives rise to shape resembling a three-pronged spear known as trident.","id":"HP:0034044","name":"Trident pelvis","obsolete":false,"parents":["HP:0001384"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Trident sign"}]} +{"alt_ids":[],"definition":"Normal muscle fibers are polygonal-shaped in cross section, are multinucleated, and have minimal amounts of endomysial connective tissue. In contrast, angulated (also known as angular) muscle fibers have long and narrow vertices (corners) with sharp edges and a pointed tip.","id":"HP:0034045","name":"Angulated muscle fibers","obsolete":false,"parents":["HP:0004303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Angular muscle fibers"},{"scope":"EXACT","text":"Angular muscle fibres"}]} +{"alt_ids":[],"definition":"Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to the mandible.","id":"HP:0034046","name":"Mandibular osteolysis","obsolete":false,"parents":["HP:0000277","HP:0002797"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to a rib.","id":"HP:0034047","name":"Rib osteolysis","obsolete":false,"parents":["HP:0000772","HP:0002797"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced concentration of chenodeoxycholic acid in the blood circulation.","id":"HP:0034048","name":"Decreased circulating chenodeoxycholic acid concentration","obsolete":false,"parents":["HP:0030985"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating chenodiol concentration"}]} +{"alt_ids":[],"definition":"An increased amount of prostaglandin E2 in the urine.","id":"HP:0034049","name":"Elevated urinary prostaglandin E2 level","obsolete":false,"parents":["HP:0003527"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urinary PGE2 level"}]} +{"alt_ids":[],"definition":"An increased amount of prostaglandin E2 metabolite (PGE-M) in the urine.","id":"HP:0034050","name":"Elevated urinary prostaglandin E2 metabolite level","obsolete":false,"parents":["HP:0003527"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of the frontal part (anterior crus or anterior limb) of the internal capsule.","id":"HP:0034051","name":"Hypoplastic anterior limbs of the internal capsule","obsolete":false,"parents":["HP:0012502"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Difficulty or reduced ability to walk on toes. Toe-walking can be tested as a part of the neurological examination. Foot plantar flexion weakness leads to difficulties in walking on toes.","id":"HP:0034052","name":"Impaired toe-walking ability","obsolete":false,"parents":["HP:0001288"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0034053","name":"Decreased acid ceramidase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Probst bundles (also known as longitudinal callosal fascicles) are neuroanatomical homologues to the corpus callosum and can occur in association with callosal agenesis. Probst bundles are white matter fibers that normally cross the corpus callosum but (because of the agenesis of the corpus callosum) fail to cross the midline, such that when they reach the corticoseptal boundary, they turn and run parallel to the interhemispheric fissure within the septal leaves, indenting the medial walls of the lateral ventricles.","id":"HP:0034054","name":"Probst bundles","obsolete":false,"parents":["HP:0001273"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), which is encoded by CYP11A1 cytochrome P450 family 11 subfamily A member 1 (Gene ID:1583).","id":"HP:0034055","name":"Anti-side-chain cleavage enzyme antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-P450scc"}]} +{"alt_ids":[],"definition":"An increased amount of calprotectin in the feces.","id":"HP:0034056","name":"Increased fecal calprotectin level","obsolete":false,"parents":["HP:0031685"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate.","id":"HP:0034057","name":"Fetal anomaly","obsolete":false,"parents":["HP:0001197"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the fetus.","id":"HP:0034058","name":"Abnormal fetal morphology","obsolete":false,"parents":["HP:0034057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Structural fetal anomaly"},{"scope":"EXACT","text":"Structural foetal anomaly"}]} +{"alt_ids":[],"definition":"Any functional anomaly of the fetus.","id":"HP:0034059","name":"Abnormal fetal physiology","obsolete":false,"parents":["HP:0034057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Functional fetal anomaly"},{"scope":"EXACT","text":"Functional foetal anomaly"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by eating fava beans.","id":"HP:0034060","name":"Triggered by fava bean ingestion","obsolete":false,"parents":["HP:0033793"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against steroid 17alpha-hydroxylase.","id":"HP:0034061","name":"Anti-steroid 17alpha-hydroxylase antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-P450C17"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against insulin.","id":"HP:0034062","name":"Anti-insulin antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"IAA positivity"},{"scope":"EXACT","text":"Insulin autoantibodies"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2.","id":"HP:0034063","name":"Anti-islet antigen-2 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-IA2 antibody positivity"},{"scope":"EXACT","text":"Anti-IA2A"},{"scope":"EXACT","text":"ICA512"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against salivary protein.","id":"HP:0034064","name":"Anti-salivary protein antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-SP1 antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against zinc transporter 8.","id":"HP:0034065","name":"Anti-Zinc transporter 8 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti ZnT8 autoantibodies"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase VI.","id":"HP:0034066","name":"Anti-carbonic anhydrase VI antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-CA6 antibody positivity"}]} +{"alt_ids":[],"definition":"Formation of lumps of tonofilaments, which are bundles of keratin filaments. In some but not all epithelia, keratin filaments are conspicuously bundled as tonofilaments. Inside the cell they braid the nucleus, span through the cytoplasm and are attached to the cytoplasmic plaques of the typical epithelial cell-cell junctions, the desmosomes.","id":"HP:0034067","name":"Tonofilament clumping","obsolete":false,"parents":["HP:0011121"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Clumping of the keratin tonofilaments"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against plasminogen binding peptide.","id":"HP:0034068","name":"Anti-plasminogen binding peptide antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-PBP antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against parotid secretory protein.","id":"HP:0034069","name":"Anti-parotid secretory protein antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-PSP antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against enterocytes.","id":"HP:0034070","name":"Anti-enterocyte antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"AEA"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against 21-hydroxylase.","id":"HP:0034071","name":"Anti-21-hydroxylase antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-P450c21"}]} +{"alt_ids":[],"definition":"Any deviation from the normal appearing echogenicity of the fetal bone. Echogenicity refers to the ability of tissue to reflect ultrasound waves back toward the transducer and produce an echo. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. The higher the echogenicity of tissues, the brighter they appear on ultrasound imaging.","id":"HP:0034072","name":"Abnormal fetal long-bone echogenicity","obsolete":false,"parents":["HP:0025662"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally decreased echogenicity of fetal long bones in a prenatal sonographic investigation. This finding is due to hypomineralization and can be seen in some disorders such as hypophosphatasia, osteogenesis imperfecta, and achondrogenesis.","id":"HP:0034073","name":"Reduced fetal long bone echogenicity","obsolete":false,"parents":["HP:0034072"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally elevated echogenicity of fetal long bones in a prenatal sonographic investigation. This finding is due to hypermineralization.","id":"HP:0034074","name":"Increased fetal long bone echogenicity","obsolete":false,"parents":["HP:0034072"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of apolipoprotein B in the blood circulation is below the lower limit of normal.","id":"HP:0034075","name":"Decreased circulating apolipoprotein B concentration","obsolete":false,"parents":["HP:0033459"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ribosome Po.","id":"HP:0034076","name":"Anti-ribosome Po antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against C1q.","id":"HP:0034077","name":"Anti-complement component C1q antibody positivity","obsolete":false,"parents":["HP:6001536"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-C1q antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-A.","id":"HP:0034078","name":"Anti-centromere protein A antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-CENP-A antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-B.","id":"HP:0034079","name":"Anti-centromere protein B antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-CENP-B antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U3 RNP.","id":"HP:0034080","name":"Anti-U3 RNP antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-fibrillarin antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Th/To.","id":"HP:0034081","name":"Anti-Th/To antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against bicaudal D2.","id":"HP:0034082","name":"Anti-bicaudal D2 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-BICD2 antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Nor90.","id":"HP:0034083","name":"Anti-nucleolus-organizing region antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-Nor90 antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl ethanolamine.","id":"HP:0034084","name":"Anti-phosphatidyl ethanolamine antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl100.","id":"HP:0034085","name":"Anti-PM-Scl100 antibody positivity","obsolete":false,"parents":["HP:0033560"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl75.","id":"HP:0034086","name":"Anti-PM-Scl75 antibody positivity","obsolete":false,"parents":["HP:0033560"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U11/U12 RNP.","id":"HP:0034087","name":"Anti-U11/U12 RNP antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ku.","id":"HP:0034088","name":"Anti-Ku antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against B23.","id":"HP:0034089","name":"Anti-B23 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against RuvBL1/2.","id":"HP:0034090","name":"Anti-RuvBL1/2 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against platelet derived growth factor receptor.","id":"HP:0034091","name":"Anti-platelet derived growth factor receptor","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-PDGFR antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cyclic citrullinated peptide.","id":"HP:0034092","name":"Anti-cyclic citrullinated peptide antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-CCP antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21.","id":"HP:0034093","name":"Anti-Ro52/TRIM21 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-Ro52 antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin receptor type-1.","id":"HP:0034094","name":"Anti-angiotensin receptor type-1 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-AT1R antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endothelin-1 type A receptor.","id":"HP:0034095","name":"Anti-endothelin-1 type A receptor antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-ETAR antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidic acid.","id":"HP:0034096","name":"Anti-phosphatidic acid antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl choline.","id":"HP:0034097","name":"Anti-phosphatidyl choline antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl glycerol.","id":"HP:0034098","name":"Anti-phosphatidyl glycerol antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl inositol.","id":"HP:0034099","name":"Anti-phosphatidyl inositol antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl serine.","id":"HP:0034100","name":"Anti-phosphatidyl serine antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin-V.","id":"HP:0034101","name":"Anti-annexin-V antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against sphingolipids.","id":"HP:0034102","name":"Anti-sphingolipid antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Ganglioside-monosialic acid (GM1) is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury","id":"HP:0034103","name":"Anti-GM1 antibody positivity","obsolete":false,"parents":["HP:0031810"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-ganglioside-monosialic acid antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neutrophil elastase.","id":"HP:0034104","name":"Anti-neutrophil elastase antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transcription intermediary factor-1gamma.","id":"HP:0034105","name":"Anti-transcription intermediary factor-1gamma antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-TIF-1gamma antibody positivity"},{"scope":"EXACT","text":"Anti-TIF1-gamma antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Su antigen/argonaute 2.","id":"HP:0034106","name":"Anti-Su antigen/argonaute 2 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-Ago2 antibody positivity"},{"scope":"EXACT","text":"Anti-Su antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against p53.","id":"HP:0034107","name":"Anti-p53 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Y-box protein-1.","id":"HP:0034108","name":"Anti-Y-box protein-1 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-YB 1 antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GW182.","id":"HP:0034109","name":"Anti-GW182 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ge-1.","id":"HP:0034110","name":"Anti-Gerbich phenotype 1 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-Ge-1 antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against MIT3.","id":"HP:0034111","name":"Anti-MIT3 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GM1.","id":"HP:0034112","name":"Anti-GM1 IgG antibody positivity","obsolete":false,"parents":["HP:0034103"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of type I liver-kidney microsomal autoantibodies (immunoglobulins) in the blood circulation.","id":"HP:0034113","name":"obsolete Anti-type I liver-kidney microsomal antibody positivity","obsolete":true,"parents":[],"replaced_by":["HP:0030908"],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against hexokinase-1.","id":"HP:0034114","name":"Anti-hexokinase-1 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-HK-1 antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Kelch like protein 12.","id":"HP:0034115","name":"Anti-Kelch like protein 12 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-KLHL-12 antibody positivity"}]} +{"alt_ids":[],"definition":null,"id":"HP:0034116","name":"obsolete Anti-thyrotropin receptor antibody","obsolete":true,"parents":[],"replaced_by":["HP:0034189"],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin-converting enzyme 2.","id":"HP:0034117","name":"Anti-angiotensin-converting enzyme 2 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-ACE2 antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GM1.","id":"HP:0034118","name":"Anti-GM1 IgM antibody positivity","obsolete":false,"parents":["HP:0034103"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a.","id":"HP:0034119","name":"Anti-GD1a IgG antibody positivity","obsolete":false,"parents":["HP:0034121"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a.","id":"HP:0034120","name":"Anti-GD1a IgM antibody positivity","obsolete":false,"parents":["HP:0034121"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a.","id":"HP:0034121","name":"Anti-GD1a antibody positivity","obsolete":false,"parents":["HP:0031810"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b.","id":"HP:0034122","name":"Anti-GQ1b antibody positivity","obsolete":false,"parents":["HP:0031810"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b.","id":"HP:0034123","name":"Anti-GQ1b IgM antibody positivity","obsolete":false,"parents":["HP:0034122"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.","id":"HP:0034124","name":"Anti-GD1b antibody positivity","obsolete":false,"parents":["HP:0031810"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.","id":"HP:0034125","name":"Anti-GD1b IgM antibody positivity","obsolete":false,"parents":["HP:0034124"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.","id":"HP:0034126","name":"Anti-GD1b IgG antibody positivity","obsolete":false,"parents":["HP:0034124"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b.","id":"HP:0034127","name":"Anti-GQ1b IgG antibody positivity","obsolete":false,"parents":["HP:0034122"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside.","id":"HP:0034128","name":"Anti-GT1a antibody positivity","obsolete":false,"parents":["HP:0031810"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside.","id":"HP:0034129","name":"Anti-GT1a IgM antibody positivity","obsolete":false,"parents":["HP:0034128"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside.","id":"HP:0034130","name":"Anti-GT1a IgG antibody positivity","obsolete":false,"parents":["HP:0034128"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1b ganglioside.","id":"HP:0034131","name":"Anti-GT1b antibody positivity","obsolete":false,"parents":["HP:0031810"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM2.","id":"HP:0034132","name":"Anti-GM2 antibody positivity","obsolete":false,"parents":["HP:0031810"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM3.","id":"HP:0034133","name":"Anti-GM3 antibody positivity","obsolete":false,"parents":["HP:0031810"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM4.","id":"HP:0034134","name":"Anti-GM4 antibody positivity","obsolete":false,"parents":["HP:0031810"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF155.","id":"HP:0034135","name":"Anti-neurofascin-155 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-NF155 antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF186.","id":"HP:0034136","name":"Anti-neurofascin 186 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-NF186 antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CNTN1.","id":"HP:0034137","name":"Anti-contactin-1 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-CNTN1 antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-contactin-associated protein 1.","id":"HP:0034138","name":"Anti-contactin-associated protein 1 antibody positivity","obsolete":false,"parents":["HP:0034137"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-CASPR1 antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE.","id":"HP:0034139","name":"Anti-SUMO-activating enzyme antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-SAE antibody positivity"},{"scope":"EXACT","text":"Anti-small ubiquitin-like modifier-1 activating enzyme antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 1.","id":"HP:0034140","name":"Anti-SUMO-activating enzyme subunit 1 antibody positivity","obsolete":false,"parents":["HP:0034139"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 2.","id":"HP:0034141","name":"Anti-SUMO-activating enzyme subunit 2 antibody positivity","obsolete":false,"parents":["HP:0034139"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-SAE 2 antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NXP-2.","id":"HP:0034142","name":"Anti-nuclear matrix protein-2 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-MJ/NXP-2 antibody positivity"},{"scope":"EXACT","text":"Anti-NXP-2 antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against threonyl-tRNA synthetase.","id":"HP:0034143","name":"Anti-threonyl-tRNA synthetase antibody positivity","obsolete":false,"parents":["HP:0034147"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-PL-7 antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro60.","id":"HP:0034144","name":"Anti-hY-RNA complex antibody positivity","obsolete":false,"parents":["HP:0033476"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-Ro60 antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against alanyl-tRNA synthetase.","id":"HP:0034145","name":"Anti-alanyl-tRNA synthetase antibody positivity","obsolete":false,"parents":["HP:0034147"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-PL-12 antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glycyl tRNA-synthetase.","id":"HP:0034146","name":"Anti-glycyl tRNA-synthetase antibody positivity","obsolete":false,"parents":["HP:0034147"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-EJ antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a tRNA synthetase enzyme.","id":"HP:0034147","name":"Anti-aminoacyl-tRNA synthetase antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against isoleucyl tRNA-synthetase.","id":"HP:0034148","name":"Anti-isoleucyl tRNA-synthetase antibody positivity","obsolete":false,"parents":["HP:0034147"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-OJ antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phenylalanyl tRNA synthetase.","id":"HP:0034149","name":"Anti-phenylalanyl tRNA synthetase antibody positivity","obsolete":false,"parents":["HP:0034147"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-Zo alpha antibody positivity"},{"scope":"EXACT","text":"Anti-Zo antibody positivity"},{"scope":"EXACT","text":"Phenylanyl-t-RNA synthetase alpha antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against tyrosyl-tRNA synthetase.","id":"HP:0034150","name":"Anti-tyrosyl-tRNA synthetase antibody positivity","obsolete":false,"parents":["HP:0034147"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-Ha antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against asparaginyl-tRNA synthetase.","id":"HP:0034151","name":"Anti-asparaginyl-tRNA synthetase antibody positivity","obsolete":false,"parents":["HP:0034147"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-KS antibody positivity"}]} +{"alt_ids":["HP:0033029"],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against histidyl tRNA synthetase.","id":"HP:0034152","name":"Anti-histidyl tRNA synthetase antibody positivity","obsolete":false,"parents":["HP:0034147","HP:6000678"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-JO1 antibody positivity"},{"scope":"EXACT","text":"Anti-Jo-1 antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cytosolic-5-nucleotidase-1A (cN1A).","id":"HP:0034153","name":"Anti-cytosolic-5-nucleotidase-1A antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-cN1A antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ki.","id":"HP:0034154","name":"Anti-Ki antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against sp100. Autoantibodies causing the MND pattern are directed against sp100, sp140, promyelocytic leukemia nuclear body proteins (PML) or ubiquitin-like modifier (SUMO) proteins, while in the punctate nuclear envelope pattern, the target antigens are gp210, nucleoporin-62 or laminin B receptor proteins.","id":"HP:0034155","name":"Anti-sp100 antibody positivity","obsolete":false,"parents":["HP:0025353"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of IgG antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome.","id":"HP:0034156","name":"Anti-beta-2-Glycoprotein I IgG antibody positivity","obsolete":false,"parents":["HP:0032376"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-beta2GPI IgG antibody positivity"}]} +{"alt_ids":[],"definition":"Presence of IgM antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome.","id":"HP:0034157","name":"Anti-beta-2-Glycoprotein I IgM antibody positivity","obsolete":false,"parents":["HP:0032376"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-beta2GPI IgM antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against the tyrosine phossphatase region of islet antigen 2A (this region is a specific part of IA-2). Usually IA-2A are measured using the intracellular portion of IA-2 (IA-2ic) made up of the protein tyrosine phosphatase (PTP) and juxtamembrane (JM) regions.","id":"HP:0034158","name":"Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity","obsolete":false,"parents":["HP:0034063"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-PTPA antibody positivity"}]} +{"alt_ids":[],"definition":"Paget's disease of bone (PDB) is a chronic progressive metabolic bone disease characterized by abnormal activation of osteoclasts that results in abnormal bone resorption and compensatory osteogenic sclerosis. DB can affect one (monostotic form) or more (polyostotic form) regions of the skeleton, with multiple constitutive symptoms, including bone pain, bone deformity, pathological fracture, tinnitus, hearing loss, vision loss, and osteoarthritis.","id":"HP:0034159","name":"Pagetic bone lesion","obsolete":false,"parents":["HP:0003330"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Osteitis deformans"},{"scope":"EXACT","text":"Paget bone lesion"},{"scope":"EXACT","text":"Paget disease of bone"}]} +{"alt_ids":[],"definition":"Any deviation from the normal range of the concentration of interleukin 9 in the blood circulation.","id":"HP:0034160","name":"Abnormal circulating interleukin 9 concentration","obsolete":false,"parents":["HP:0011117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally decreased concentration of interleukin 9 in the blood circulation.","id":"HP:0034161","name":"Reduced circulating interleukin 9 concentration","obsolete":false,"parents":["HP:0034160"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal range of the concentration of interleukin 10 in the blood circulation.","id":"HP:0034162","name":"Abnormal circulating interleukin 10 concentration","obsolete":false,"parents":["HP:0011117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally decreased concentration of interleukin 10 in the blood circulation.","id":"HP:0034163","name":"Reduced circulating interleukin 10 concentration","obsolete":false,"parents":["HP:0034162"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal range of the concentration of interleukin 21 in the blood circulation.","id":"HP:0034164","name":"Abnormal circulating interleukin 21 concentration","obsolete":false,"parents":["HP:0011117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally decreased concentration of interleukin 21 in the blood circulation.","id":"HP:0034165","name":"Reduced circulating interleukin 21 concentration","obsolete":false,"parents":["HP:0034164"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased concentration of interleukin 21 in the blood circulation.","id":"HP:0034166","name":"Increased circulating interleukin 21 concentration","obsolete":false,"parents":["HP:0034164"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal range of the concentration of interleukin 22 in the blood circulation.","id":"HP:0034167","name":"Abnormal circulating interleukin 22 concentration","obsolete":false,"parents":["HP:0011117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally decreased concentration of interleukin 22 in the blood circulation.","id":"HP:0034168","name":"Reduced circulating interleukin 22 concentration","obsolete":false,"parents":["HP:0034167"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased concentration of interleukin 22 in the blood circulation.","id":"HP:0034169","name":"Increased circulating interleukin 22 concentration","obsolete":false,"parents":["HP:0034167"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal range of the concentration of interleukin 23 in the blood circulation.","id":"HP:0034170","name":"Abnormal circulating interleukin 23 concentration","obsolete":false,"parents":["HP:0011117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally decreased concentration of interleukin 23 in the blood circulation.","id":"HP:0034171","name":"Reduced circulating interleukin 23 concentration","obsolete":false,"parents":["HP:0034170"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased concentration of interleukin 23 in the blood circulation.","id":"HP:0034172","name":"Increased circulating interleukin 23 concentration","obsolete":false,"parents":["HP:0034170"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal range of the concentration of interleukin 27 in the blood circulation.","id":"HP:0034173","name":"Abnormal circulating interleukin 27 concentration","obsolete":false,"parents":["HP:0011117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally decreased concentration of interleukin 27 in the blood circulation.","id":"HP:0034174","name":"Reduced circulating interleukin 27 concentration","obsolete":false,"parents":["HP:0034173"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased concentration of interleukin 27 in the blood circulation.","id":"HP:0034175","name":"Increased circulating interleukin 27 concentration","obsolete":false,"parents":["HP:0034173"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal range of the concentration of interleukin 17A in the blood circulation.","id":"HP:0034176","name":"Abnormal circulating interleukin 17A concentration","obsolete":false,"parents":["HP:0011117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally decreased concentration of interleukin 17A in the blood circulation.","id":"HP:0034177","name":"Reduced circulating interleukin 17A concentration","obsolete":false,"parents":["HP:0034176"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased concentration of interleukin 17A in the blood circulation.","id":"HP:0034178","name":"Increased circulating interleukin 17A concentration","obsolete":false,"parents":["HP:0034176"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal outpouching or sac-like dilatation in the wall of the vertebral artery .","id":"HP:0034179","name":"Vertebral artery aneurysm","obsolete":false,"parents":["HP:0030321"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal joined appearance of the caudate and putamen with an absence of the anterior limb of the internal capsule.","id":"HP:0034180","name":"Fusion of the caudate and putamen","obsolete":false,"parents":["HP:0002339","HP:0031982"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the liver.","id":"HP:0034181","name":"Aplasia/Hypoplasia of the liver","obsolete":false,"parents":["HP:0410042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anatomically the liver is divided into right and left lobes based on the attachment of its peritoneal ligaments. This term refers to a developmental anomaly characterzied by the underdevelopment of one of the lobes of the liver. This is a rare and usually asymptomatic anomaly that can be detected incidentally on cross sectional imaging with computed tomography or magnetic resonance imaging.","id":"HP:0034182","name":"Segmental hypoplasia of liver","obsolete":false,"parents":["HP:0034181"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Spastic weakness found in both lower extremities and one upper extremity.","id":"HP:0034183","name":"Spastic triplegia","obsolete":false,"parents":["HP:0034353","HP:0100021"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of insulin-like growth factor-binding protein acid labile subunit in the blood circulation is above the upper limit of normal.","id":"HP:0034184","name":"Elevated circulating insulin-like growth factor-binding protein acid labile subunit concentration","obsolete":false,"parents":["HP:0031034"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated insulin-like growth factor-binding protein complex acid labile subunit concentration"},{"scope":"EXACT","text":"Elevated insulin-like growth factor-binding protein complex acid labile subunit level"},{"scope":"EXACT","text":"Elevated insulin-like growth factor-binding protein complex acid labile subunit level in blood"},{"scope":"EXACT","text":"Increased circulating IGFALS contration"},{"scope":"EXACT","text":"Increased insulin-like growth factor-binding protein complex acid labile subunit concentration"},{"scope":"EXACT","text":"Increased insulin-like growth factor-binding protein complex acid labile subunit level"},{"scope":"EXACT","text":"Increased insulin-like growth factor-binding protein complex acid labile subunit level in blood"}]} +{"alt_ids":[],"definition":"A type of mild median cleft lip in which the central tubercle of the upper lip is replaced by a mucosal cleft in the midline.","id":"HP:0034185","name":"Median pseudocleft lip","obsolete":false,"parents":["HP:0000161"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Patella alta is a patella that rides abnormally high in relation to the femur, the femoral trochlea, or the tibia, with decreased bony stability requiring increased knee flexion angles to engage the trochlea.","id":"HP:0034186","name":"Patella alta","obsolete":false,"parents":["HP:0003045"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect in a the clavicule leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or false joint).","id":"HP:0034187","name":"Clavicular pseudarthrosis","obsolete":false,"parents":["HP:0000889"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Position of the liver across the middle of the body instead of being in its normal position to the right of the stomach.","id":"HP:0034188","name":"Midline liver","obsolete":false,"parents":["HP:0410042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0034116"],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid-stimulating hormone.","id":"HP:0034189","name":"Anti-thyroid-stimulating hormone receptor antibody positivity","obsolete":false,"parents":["HP:0430050"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-TSH receptor antibody positivity"},{"scope":"EXACT","text":"Anti-thyrotropin receptor antibody"},{"scope":"EXACT","text":"TRAbs"}]} +{"alt_ids":[],"definition":"Abnormal functionality of the fetal cardiovascular system.","id":"HP:0034190","name":"Abnormal fetal cardiovascular physiology","obsolete":false,"parents":["HP:0011025","HP:0034059"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased peak systolic velocity of the fetal middle cerebral artery (MCA) as evaluated by Doppler ultrasound.","id":"HP:0034191","name":"Elevated fetal middle cerebral artery peak systolic velocity","obsolete":false,"parents":["HP:0034190"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pulmonary embolism is caused by emboli, which have originated from venous thrombi, traveling to and occluding the arteries of the lung.","id":"HP:0034192","name":"Pulmonary thromboembolism","obsolete":false,"parents":["HP:0001907"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis.","id":"HP:0034193","name":"Stratum basale cleavage","obsolete":false,"parents":["HP:0033802"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blistering with cleavage within basal keratinocytes"},{"scope":"EXACT","text":"Cleavage within the basal keratinocyte layer"}]} +{"alt_ids":[],"definition":"Cleavage within the suprabasal cell layer of the epidermis, which lies directly above the basal layer and is composed of five to ten layers of cells.","id":"HP:0034194","name":"Suprabasal cleavage","obsolete":false,"parents":["HP:0033802"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blistering with suprabasal clefting"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by exposure to a muscle relaxant such as suxamethonium and mivacurium.","id":"HP:0034195","name":"Triggered by muscle relaxant","obsolete":false,"parents":["HP:4000101"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect characterized by lack of formation of the ductus venosus (a shunt that allows oxygenated blood in the umbilical vein to bypass the liver in the fetal circulation).","id":"HP:0034196","name":"Ductus venosus agenesis","obsolete":false,"parents":["HP:0010948"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Agenesis of the ductus venosus"}]} +{"alt_ids":[],"definition":"This term refers to a phenotypic feature that was first observed prior to birth during the third trimester, which is defined as 28 weeks and zero days (28+0) of gestation and beyond.","id":"HP:0034197","name":"Third trimester onset","obsolete":false,"parents":["HP:0011461"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 27 6/7 (inclusive).","id":"HP:0034198","name":"Second trimester onset","obsolete":false,"parents":["HP:0011461"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This term refers to a phenotypic feature that was first observed prior to birth in the first trimester during the early fetal period, which is defined as 11 0/7 to 13 6/7 weeks of gestation (inclusive).","id":"HP:0034199","name":"Late first trimester onset","obsolete":false,"parents":["HP:0011461"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Early fetal onset"},{"scope":"EXACT","text":"Early foetal onset"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.","id":"HP:0034200","name":"Abnormal CSF homovanillic acid concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Elevated concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.","id":"HP:0034201","name":"Increased CSF homovanillic acid concentration","obsolete":false,"parents":["HP:0034200"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0034202","name":"Abnormal iduronate sulfatase concentration","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An decreased level of iduronate-2-sulfatase activity in the blood circulation.","id":"HP:0034203","name":"Decreased iduronate sulfatase level","obsolete":false,"parents":["HP:0034202"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased concentration of C1-esterase inhibitor (C1INH) in the blood circulation.","id":"HP:0034204","name":"Decreased circulating C1-esterase inhibitor concentration","obsolete":false,"parents":["HP:0005339"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Iniencephaly is a rare neural tube defect involving dysmorphic spine and abnormal fusion of the portion of the occipital skull with the back. It results in extreme fixed head retroflexion.","id":"HP:0034205","name":"Iniencephaly","obsolete":false,"parents":["HP:0034237"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomalous structural finding of the fetal central nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.","id":"HP:0034206","name":"Abnormal fetal central nervous system morphology","obsolete":false,"parents":["HP:0034058"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal fetal CNS morphology"},{"scope":"EXACT","text":"Abnormal foetal CNS morphology"}]} +{"alt_ids":[],"definition":"An anomalous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.","id":"HP:0034207","name":"Abnormal fetal gastrointestinal system morphology","obsolete":false,"parents":["HP:0034058"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal bleeding inside the skull (cranium) of a fetus.","id":"HP:0034208","name":"Fetal intracranial hemorrhage","obsolete":false,"parents":["HP:0002170","HP:0034206"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of fetal intracranial hemorrhage located in the subependymal germinal matrix below the frontal horns of the lateral ventricles in the caudothalamic notch.","id":"HP:0034209","name":"Fetal subependymal hemorrhage","obsolete":false,"parents":["HP:0034210"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Grade I fetal intracranial hemorrhage"},{"scope":"EXACT","text":"Grade I foetal intracranial haemorrhage"}]} +{"alt_ids":[],"definition":"A type of fetal intracranial hemorrhage with bleeding into the ventricular system of the brain.","id":"HP:0034210","name":"Fetal intraventricular hemorrhage","obsolete":false,"parents":["HP:0034208"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of fetal intracranial hemorrhage with bleeding into the parenchyma (tissue) of the brain.","id":"HP:0034211","name":"Fetal cerebral parenchymal hemorrhage","obsolete":false,"parents":["HP:0034208"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of fetal intracranial hemorrhage with bleeding that occurs within the skull but outside of the brain tissue itself (into the epidural, subdural, or arachnoid space).","id":"HP:0034212","name":"Fetal extra-axial hemorrhage","obsolete":false,"parents":["HP:0034208"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of fetal intracranial hemorrhage that occurs in the posterior cranial fossa, which is the part of the cranial cavity that is located between the foramen magnum and tentorium cerebelli and contains the brainstem and cerebellum.","id":"HP:0034213","name":"Fetal posterior fossa hemorrhage","obsolete":false,"parents":["HP:0034208"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of fetal intraventricular hemorrhage characterized by clear hemorrhage spillover to the ventricles filling less than 50% of the lateral ventricle and without ventriculomegaly of greater than 15 mm in the transverse diameter of the lateral ventricular atrium.","id":"HP:0034214","name":"Fetal intraventricular hemorrhage without ventriculomegaly","obsolete":false,"parents":["HP:0034210"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Grade II fetal intracranial hemorrhage"},{"scope":"EXACT","text":"Grade II foetal intracranial haemorrhage"}]} +{"alt_ids":[],"definition":"A type of fetal intracranial hemorrhage that occurs in the hemisphere of the cerebellum.","id":"HP:0034215","name":"Fetal cerebellar hemisphere hemorrhage","obsolete":false,"parents":["HP:0034213"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of fetal intracranial hemorrhage that occurs in the vermis of the cerebellum.","id":"HP:0034216","name":"Fetal cerebellar vermis hemorrhage","obsolete":false,"parents":["HP:0034213"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inability to visualize the fetal bladder on targeted prenatal sonography examination. The fetal bladder can be visualized with sonography as a midline, fluid-filled structure in the pelvis as early as 10-12 weeks of gestation. The normal fetus voids at least once an hour but never completely empties the urinary bladder. The fetal bladdder should be consistently imaged after 13 weeks of gestation.","id":"HP:0034217","name":"Sonographic non-visualized fetal bladder","obsolete":false,"parents":["HP:0034242"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of fetal intraventricular hemorrhage (IVH) characterized by spillover to ventricles with flooding of 50% or more of one or both lateral ventricles accrued accompanying ventriculomegaly, but with no apparent brain parenchymal injury. This type of IVH may be defined as a diameter exceeding 15 mm in the transverse diameter of the lateral ventricular atrium as visualiuzed by prenatal sonography.","id":"HP:0034218","name":"Fetal intraventricular hemorrhage with ventriculomegaly","obsolete":false,"parents":["HP:0034210"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Grade III fetal intracranial hemorrhage"},{"scope":"EXACT","text":"Grade III foetal intracranial haemorrhage"}]} +{"alt_ids":[],"definition":"A type of fetal intraventricular hemorrhage that additionally includes hemorrhage in a large part of the periventricular parenchyma.","id":"HP:0034219","name":"Fetal intraventricular hemorrhage with periventricular hemorrhage","obsolete":false,"parents":["HP:0034210"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Grade IV fetal intracranial hemorrhage"},{"scope":"EXACT","text":"Grade IV foetal intracranial haemorrhage"}]} +{"alt_ids":[],"definition":"Expansion of the temporal lobes of the brain along all axes, including rostrocaudal, superoinferior, and mediolateral, resulting in a globular appearance of the brain.","id":"HP:0034220","name":"Temporal lobe megalencephaly","obsolete":false,"parents":["HP:0001355","HP:0034221"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal structural of the zone (lobe) of the cerebral cortex that is located inferior to the lateral fissure on other cerebral hemispheres.","id":"HP:0034221","name":"Abnormal temporal lobe morphology","obsolete":false,"parents":["HP:0002538"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect of the temporal lobe of the cerebral cortex that is characterized by prominent sulcations and radially directed gyrations.","id":"HP:0034222","name":"Temporal lobe dysplasia","obsolete":false,"parents":["HP:0034221"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Human umbilical artery (UA) blood flow pulsatility measured by Doppler ultrasound is a widely used biomarker for the detection of elevated placental vascular resistance. Elevated UA pulsatility, which in the most extreme cases manifests as absent or even reversed end-diastolic velocity, is associated with intrauterine growth restriction (IUGR) and still-birth.","id":"HP:0034223","name":"Elevated umbilical artery pulsatility","obsolete":false,"parents":["HP:0025715"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated umbilical artery Dopplers"},{"scope":"EXACT","text":"Increased umbilical artery pulsatility index"}]} +{"alt_ids":[],"definition":"An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an absence of flow in the umbilical artery at the end of diastole.","id":"HP:0034224","name":"Absent end-diastolic umbilical artery flow","obsolete":false,"parents":["HP:0025715"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an reversal of flow in the umbilical artery at the end of diastole (i.e., backwards flow).","id":"HP:0034225","name":"Reversed end-diastolic umbilical artery flow","obsolete":false,"parents":["HP:0025715"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Characteristic appearance of the chest and abdomen in the sagittal view on prenatal ultrasound when the chest is small and the abdomen protruding.","id":"HP:0034226","name":"Champagne cork sign","obsolete":false,"parents":["HP:0025662"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of aortic arch hypoplasia whereby the isthmus (arch between the left subclavian and insertion of the patent ductus arteriosus/ligamentum arteriosum) has a diameter of less than 40% of the diameter of the ascending aorta.","id":"HP:0034227","name":"Aortic isthmus hypoplasia","obsolete":false,"parents":["HP:0012304"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of aortic arch hypoplasia whereby the proximal aortic arch (arch proximal to the origin of the left subclavian artery) has a diameter of less than 60% of the diameter of the ascending aorta.","id":"HP:0034228","name":"Proximal aortic arch hypoplasia","obsolete":false,"parents":["HP:0012304"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of aortic arch hypoplasia whereby the distal aortic arch (arch distal to the ductus arteriosus) has a diameter of less than 60% of the diameter of the ascending aorta.","id":"HP:0034229","name":"Distal aortic arch hypoplasia","obsolete":false,"parents":["HP:0012304"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position).","id":"HP:0034230","name":"Inferior crossed fused renal ectopia","obsolete":false,"parents":["HP:0004736"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Type A cross fused renal ectopia"}]} +{"alt_ids":[],"definition":"A type of cross fused renal ectopia where the normal side kidney is present superiorly and the direction of pelvic is medial, the kidney which crosses positioned inferiorly with direction of pelvic toward the lateral side. As kidneys fuse after complete rotation on the vertical axis, both renal pelves lie in correct orientation.","id":"HP:0034231","name":"Sigmoid kidney","obsolete":false,"parents":["HP:0004736"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"S-shaped kidney"},{"scope":"EXACT","text":"Type B cross fused renal ectopia"}]} +{"alt_ids":[],"definition":"A type of cross fused renal ectopia where fusion occurs over a wide margin, both renal pelves anteriorly directed and placed more inferiorly.","id":"HP:0034232","name":"Unilateral lump kidney","obsolete":false,"parents":["HP:0004736"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Type C cross fused renal ectopia"}]} +{"alt_ids":[],"definition":"A type of cross fused renal ectopia in which kidneys fuse along their medial borders.","id":"HP:0034233","name":"Disc kidney","obsolete":false,"parents":["HP:0004736"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Type D cross fused renal ectopia"}]} +{"alt_ids":[],"definition":"A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney.","id":"HP:0034234","name":"L-shaped kidney","obsolete":false,"parents":["HP:0004736"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tandem kidney"},{"scope":"EXACT","text":"Type E cross fused renal ectopia"}]} +{"alt_ids":[],"definition":"A type of cross fused renal ectopia in which the ectopic kidney lies superiorly and its lower pole fuses with the upper pole of the normal kidney. The renal pelvis of both kidneys lies anteriorly.","id":"HP:0034235","name":"Superior crossed-fused renal ectopia","obsolete":false,"parents":["HP:0004736"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Recurrent episodes of apnea occurring in infants born less than 37 weeks of gestation, defined specifically as a pause of breathing for more than 15-20 s, or accompanied by oxygen desaturation (SpO2 not more than 80% for at least 4 s) and bradycardia (heart rate less than 2/3 of baseline for at least 4 s), in infants born less than 37 weeks of gestation.","id":"HP:0034236","name":"Apnea of prematurity","obsolete":false,"parents":["HP:0002104"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"AOP"}]} +{"alt_ids":[],"definition":"A type of neural tube defect that is not covered by skin.","id":"HP:0034237","name":"Open neural tube defect","obsolete":false,"parents":["HP:0045005"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of neural tube defect that is covered by skin.","id":"HP:0034238","name":"Closed neural tube defect","obsolete":false,"parents":["HP:0045005"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a thrombus (blood clot) in the major renal veins or its tributaries, generally leading to passive congestion that develops causes the affected kidney to swell and become engorged, leading to degeneration of nephrons and causing symptoms of flank pain, hematuria, and decreased urine output.","id":"HP:0034239","name":"Renal vein thrombosis","obsolete":false,"parents":["HP:0033835"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal growth (lump) of tissue in the neck region of a fetus. Masses may be simple cystic,, cystic with a few simple septations (fewer than three septations and less than 3-mm thick), cystic with multiple or thick septations (greater than three septations or septations 3-mm-thick or more), a mass that is than is less than 50% solid, and a mass that is 50% solid or more.","id":"HP:0034240","name":"Fetal neck mass","obsolete":false,"parents":["HP:0025667"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Death of a fetus in the uterus.","id":"HP:0034241","name":"Prenatal death","obsolete":false,"parents":["HP:0011420"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Death before birth"},{"scope":"EXACT","text":"Intrauterine death"}]} +{"alt_ids":[],"definition":"An anomalous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.","id":"HP:0034242","name":"Abnormal fetal genitourinary system morphology","obsolete":false,"parents":["HP:0034058"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomalous structural finding of the fetal lungs. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.","id":"HP:0034243","name":"Abnormal fetal pulmonary morphology","obsolete":false,"parents":["HP:0034058"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"At US examination from the second trimester onward, the fetal stomach appears as a uniformly anechoic, sharply circumscribed round structure in the left upper quadrant. However, debris is commonly visualized in the stomach, forming a pseudomass.","id":"HP:0034244","name":"Gastric pseudomass","obsolete":false,"parents":["HP:0034207"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0034245","name":"Fetal head anomaly","obsolete":false,"parents":["HP:0034058"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal growth (lump) of tissue that projects from the fetal scalp.","id":"HP:0034246","name":"Fetal scalp mass","obsolete":false,"parents":["HP:0034245"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An obstruction in the ureter leading to bladder outlet obstruction. Special criteria are used for lower urinary tract obstruction (LUTO) in the fetus. Prenatal LUTO has classically been suspected on the basis of three ultrasonographic findings: megacystis, dilated posterior urethra (known as the keyhole sign) and hydronephrosis.","id":"HP:0034247","name":"Fetal lower urinary tract obstruction","obsolete":false,"parents":["HP:0034242"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased echogenicity (increased brightness in the gray-scale sonography image) of the lens of a fetus.","id":"HP:0034248","name":"Increased fetal lens echogenicity","obsolete":false,"parents":["HP:0034058"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unusually severe infection by an influenza virus.","id":"HP:0034249","name":"Severe influenza infection","obsolete":false,"parents":["HP:0031691","HP:5210320"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Severe influenza"}]} +{"alt_ids":[],"definition":"Nuchal edema is considered present in a fetus at gestational week 14 or more if in the midsagittal plane of the neck, there is subcutaneous edema that produces a characteristic tremor on ballotment of the fetal head. This constitutes the severe end of the spectrum of increased nuchal fold thickness, which is defined as soft-tissue thickening of 6 mm or more, seen in the suboccipitobregmatic view of the fetal head. Nuchal edema may be confined to the neck or it may be generalized, as part of hydrops fetalis.","id":"HP:0034250","name":"Fetal nuchal edema","obsolete":false,"parents":["HP:0025667"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the corneal reflex that normally induces involuntary blinking of the eyelids following contact of the cornea.","id":"HP:0034251","name":"Abnormal corneal reflex","obsolete":false,"parents":["HP:0012373"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the corneal blinking reflex, which normally induces involuntary blinking of the eyelids following contact of the cornea. The corneal blink reflex is caused by a loop between the trigeminal sensory nerves and the facial motor (VII) nerve innervation of the orbicularis oculi muscles.","id":"HP:0034252","name":"Absent corneal reflex","obsolete":false,"parents":["HP:0034251"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An excessive division of the lobes of the nucleus of eosinophils. Eosinophils with more than two nuclear lobes are commonly regarded as hypersegmented, because seventy to ninety percent of peripheral blood eosinophils have two nuclear lobes.","id":"HP:0034253","name":"Eosinophil nuclear hypersegmentation","obsolete":false,"parents":["HP:0001879"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The face of the giant panda sign on T2-weighted MRI is characterized by preservation of normal signal intensity in the red nuclei and lateral portion of the pars reticulata of the substantia nigra, high signal in the tegmentum, and hypointensity of the superior colliculus. The findings are said to resemble the face of a giant panda.","id":"HP:0034254","name":"Face of the giant panda sign","obsolete":false,"parents":["HP:0002418"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Midbrain panda sign"}]} +{"alt_ids":[],"definition":"An aberrant, pathological communication between the colon and the bladder.","id":"HP:0034255","name":"Colovesical fistula","obsolete":false,"parents":["HP:0004321","HP:0100819"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Colovesicular fistula"},{"scope":"EXACT","text":"Vesicocolic fistula"}]} +{"alt_ids":[],"definition":"Lack of demonstrable hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin.","id":"HP:0034256","name":"Absent dermoepidermal hemidesmosomes","obsolete":false,"parents":["HP:0032449"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that recognize C4b2a, the C3 convertase of the classical pathway of complement.","id":"HP:0034257","name":"C4 nephritic factor positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the midbrain (mesencephalon).","id":"HP:0034258","name":"Aplasia/Hypoplasia of the midbrain","obsolete":false,"parents":["HP:0002418"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aplasia/Hypoplasia of the mesencephalon"}]} +{"alt_ids":[],"definition":"A developmental defect characterized by underdevelopment of the mesencephalon.","id":"HP:0034259","name":"Hypoplasia of the midbrain","obsolete":false,"parents":["HP:0034258"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplasia of the mesencephalon"},{"scope":"EXACT","text":"Hypoplastic mesencephalon"}]} +{"alt_ids":[],"definition":"Developmental defect characterized by the absence of the zygomatic arch.","id":"HP:0034260","name":"Aplastic zygomatic arch","obsolete":false,"parents":["HP:0005557"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect characterized by absence or underdevelopment of one or more facial bone.","id":"HP:0034261","name":"Aplasia/Hypoplasia of facial bones","obsolete":false,"parents":["HP:0011821"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lack of development of lanugo, the fine, soft, unpigmented hair on the body of a fetus or newborn baby.","id":"HP:0034262","name":"Absent lanugo","obsolete":false,"parents":["HP:0025723"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal vaginal bleeding occurs between menstrual periods, after sex, or after menopause. Menstrual periods that are heavier or last longer than usual or last more than seven days also are considered abnormal.","id":"HP:0034263","name":"Abnormal vaginal bleeding","obsolete":false,"parents":["HP:0001892","HP:0034268"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Postcoital bleeding (PCB) consists of spotting or bleeding after sexual intercourse that is not related to a person's menstrual cycle.","id":"HP:0034264","name":"Postcoital vaginal bleeding","obsolete":false,"parents":["HP:0034263"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bleeding after sex"}]} +{"alt_ids":[],"definition":"Pain in the breast.","id":"HP:0034265","name":"Mastalgia","obsolete":false,"parents":["HP:0012531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Breast pain"},{"scope":"EXACT","text":"Painful breast"}]} +{"alt_ids":[],"definition":"Bleeding during sex.","id":"HP:0034266","name":"Vaginal bleeding during sex","obsolete":false,"parents":["HP:0034263"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pain perceived in the area of the pelvis, the lower part of the abdomen located between the hip bones.","id":"HP:0034267","name":"Pelvic pain","obsolete":false,"parents":["HP:0012531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pain in the pelvis"}]} +{"alt_ids":[],"definition":"Any anomaly of vagina function.","id":"HP:0034268","name":"Abnormal vaginal physiology","obsolete":false,"parents":["HP:0030012"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anomalous amount, odor, or consistency of the fluid or mucus that comes from the vagina","id":"HP:0034269","name":"Abnormal vaginal discharge","obsolete":false,"parents":["HP:0034268"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Incisor teeth with irregular edges said to resemble a saw.","id":"HP:0034270","name":"Serrated incisors","obsolete":false,"parents":["HP:0011063"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Jagged incisors"}]} +{"alt_ids":[],"definition":"Diffuse prominent gyral impressions on the inner table of skull vault said to resemble beaten copper.","id":"HP:0034271","name":"Copper beaten skull","obsolete":false,"parents":["HP:0002683"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased amount of autofluorescence (emission of fluorescent light from ocular structures in the absence of sodium fluorescein) in the retina in the region surrounding the fovea.","id":"HP:0034272","name":"Perifoveal hypoautofluorescence","obsolete":false,"parents":["HP:0025159"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Drooping or sinking of tissues of the cheeks more than would be expected at a given age. Sagging can occur due to a relative excess of skin and/or lack of elastic recoil as well as fat accumulation.","id":"HP:0034273","name":"Premature sagging cheeks","obsolete":false,"parents":["HP:0004426"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Premature facial sagging"}]} +{"alt_ids":[],"definition":"A deep defect in the esophageal, gastric, duodenal or intestinal wall involving the entire mucosal thickness and penetrating through the muscularis mucosae.","id":"HP:0034274","name":"Gastrointestinal ulcer","obsolete":false,"parents":["HP:0012718"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of epidermal nevus (which represent Blaschkoid hamartomas of the skin that result from mosaic post-zygotic mutations) that appears as skin-colored-to-brown, sharply demarcated, papillomatous papules that coalesce into plaques. The majority of these nevi are either present at birth or occur within the first year of life.","id":"HP:0034275","name":"Verrucous epidermal nevus","obsolete":false,"parents":["HP:0010816"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of thymidine in the blood circulation above the normal range.","id":"HP:0034276","name":"Elevated circulating thymidine concentration","obsolete":false,"parents":["HP:0004353"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased serum thymidine"}]} +{"alt_ids":[],"definition":"Concentration of 2-deoxyuridine in the blood circulation is above the normal range.","id":"HP:0034277","name":"Elevated circulating deoxyuridine concentration","obsolete":false,"parents":["HP:0004353"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Erythroblasts with multiple nuclei. Erythroblasts are nucleated precrusor cells of erythrocytes that are localized to the bone marrow. Normally, erythroblasts have a single nucleus. The abnormal finding of erythrocytes with two or more nuclei may be related to defects in cytokinesis.","id":"HP:0034278","name":"Multinucleated erythroblast","obsolete":false,"parents":["HP:0012130"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Binucleated erythroblast"},{"scope":"EXACT","text":"Bone marrow: multinucleated erythroblasts"},{"scope":"RELATED","text":"Double-nucleated erythroblast"},{"scope":"EXACT","text":"Multinucleate erythroblast"}]} +{"alt_ids":[],"definition":"The presence of 2,8-dihydroxyadenine crystals in the urine. The crystals appear as round, yellow-brown crystals.","id":"HP:0034279","name":"2,8-dihydroxyadenine crystalluria","obsolete":false,"parents":["HP:0020074"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"2,8-dihydroxyadenine urinary crystals"}]} +{"alt_ids":[],"definition":"Target cells (codocytes) have a centrally located disk of hemoglobin surrounded by an area of pallor with an outer rim of hemoglobin adjacent to the cell membrane giving the cell the appearance of a target.","id":"HP:0034280","name":"Target cells","obsolete":false,"parents":["HP:0004447"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Codocytes"}]} +{"alt_ids":[],"definition":"Cone-shaped epiphyses of the phalanges of the hands or feet. Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.","id":"HP:0034281","name":"Phalangeal cone-shaped epiphyses","obsolete":false,"parents":["HP:0010579"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped epiphyses of phalanges"},{"scope":"EXACT","text":"Cone-shaped phalangeal epiphyses"}]} +{"alt_ids":[],"definition":"Formation of abnormal, extraskeletal bony tissue in the soft tissue beneath the skin. Subcutaneous ossifications may be observed by radiography or by palpation.","id":"HP:0034282","name":"Subcutaneous ossification","obsolete":false,"parents":["HP:0011986"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally high concentration of protoporphyrin (derivative of porphyrin with propionic acid groups) in feces.","id":"HP:0034283","name":"Increased fecal protoporphyrin concentration","obsolete":false,"parents":["HP:0031685"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to gingivitis, as manifested by recurrent or chronic episodes of infections or inflammations of the gums (gingival tissue) that are unusual in frequency or severity for a healthy individual of the same age.","id":"HP:0034284","name":"Recurrent gingivitis","obsolete":false,"parents":["HP:0000230","HP:0002719"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic gingivitis"},{"scope":"EXACT","text":"Persistent gingivitis"}]} +{"alt_ids":[],"definition":"Inflammation of the brain related to infection by an enterovirus.","id":"HP:0034285","name":"Enteroviral encephalitis","obsolete":false,"parents":["HP:0033993"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0034286","name":"obsolete Pneumocystis carinii pneumonia","obsolete":true,"parents":[],"replaced_by":["HP:0020102"],"synonyms":[]} +{"alt_ids":[],"definition":"Lack of detectable fibrinogen in the blood circulation.","id":"HP:0034287","name":"Afibrinogenemia","obsolete":false,"parents":["HP:0011898"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of reverse T3 (3,3',5'-triiodothyronine or rT3) in the blood circulation is above the upper limit of normal.","id":"HP:0034288","name":"Elevated circulating reverse T3 concentration","obsolete":false,"parents":["HP:0025120"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating reverse triiodothyronine concentration"},{"scope":"EXACT","text":"Elevated rT3"}]} +{"alt_ids":[],"definition":"An abnormally increased ratio of the concentrations of reverse T3 to T3 in the blood circulation.","id":"HP:0034289","name":"Elevated circulating rT3/T3 ratio","obsolete":false,"parents":["HP:0031508"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of tiglylglycine in the blood circulation above the upper limit of normal.","id":"HP:0034290","name":"Elevated circulating tiglylglycine concentration","obsolete":false,"parents":["HP:0004354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevation above the normal range of creatine in the blood circulation.","id":"HP:0034291","name":"Elevated circulating creatine concentration","obsolete":false,"parents":["HP:0012113"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An reduction below the normal range of creatine in the blood circulation.","id":"HP:0034292","name":"Reduced circulating creatine concentration","obsolete":false,"parents":["HP:0012113"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of calcium deposition within the temporal lobe of the brain.","id":"HP:0034293","name":"Temporal lobe calcification","obsolete":false,"parents":["HP:0002514"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bile thrombi that form an obstruction (plug) in a dilated bile duct.","id":"HP:0034294","name":"Ductal bile plugs","obsolete":false,"parents":["HP:0012440"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally low volume of the white matter of the brain.","id":"HP:0034295","name":"Reduced cerebral white matter volume","obsolete":false,"parents":["HP:0002500"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"White matter loss"}]} +{"alt_ids":[],"definition":"Detection of 3,5,6-trichloro-2-pyridinol in the urine.","id":"HP:0034296","name":"Elevated urine 3,5,6-trichloro-2-pyridinol level","obsolete":false,"parents":["HP:0031840"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of tetracosanoic acid (a C24 straight-chain saturated fatty acid) in the blood circulation is above the upper limit of normal.","id":"HP:0034297","name":"Elevated circulating tetracosanoic acid concentration","obsolete":false,"parents":["HP:0010966"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated tetracosanoic acid concentration"},{"scope":"EXACT","text":"Elevated tetracosanoic acid level"},{"scope":"EXACT","text":"Elevated tetracosanoic acid level in blood"},{"scope":"EXACT","text":"Increased tetracosanoic acid concentration"},{"scope":"EXACT","text":"Increased tetracosanoic acid level"},{"scope":"EXACT","text":"Increased tetracosanoic acid level in blood"}]} +{"alt_ids":[],"definition":"The concentration of hexacosanoic acid (a C26 straight-chain saturated fatty acid) in the blood circulation is above the upper limit of normal.","id":"HP:0034298","name":"Elevated circulating hexacosanoic acid concentration","obsolete":false,"parents":["HP:0010966","HP:0033643"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating cerotic acid concentration"},{"scope":"EXACT","text":"Elevated hexacosanoic acid concentration"},{"scope":"EXACT","text":"Elevated hexacosanoic acid level"},{"scope":"EXACT","text":"Elevated hexacosanoic acid level in blood"},{"scope":"EXACT","text":"Increased hexacosanoic acid concentration"},{"scope":"EXACT","text":"Increased hexacosanoic acid level"},{"scope":"EXACT","text":"Increased hexacosanoic acid level in blood"}]} +{"alt_ids":[],"definition":"A histological phenotype observed on testicular biopsy in which only Sertoli cells line the seminiferous tubules of the testis.","id":"HP:0034299","name":"Sertoli cell-only phenotype","obsolete":false,"parents":["HP:0000035"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced activity of the enzyme acid sphingomyelinase activity in the blood circulation.","id":"HP:0034300","name":"Decreased acid sphingomyelinase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A malformation of the colon in which a pouch-like dilatation of a varying degree of shortened colon is associated with an anorectal malformation. The pouch usually terminates in a fistulous communication with the genitourinary tract.","id":"HP:0034301","name":"Congenital pouch colon","obsolete":false,"parents":["HP:0002250"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenitally anomalous enlarged optic disc (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects.","id":"HP:0034302","name":"Megalopapilla","obsolete":false,"parents":["HP:0012795"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A bifid T-wave with a notch duration between the 2 peaks at least 0.04 sec and an amplitude at least 0.05 mV.","id":"HP:0034303","name":"Notched T wave","obsolete":false,"parents":["HP:0005135"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Notched T-wave"}]} +{"alt_ids":[],"definition":"An electric signal of depolarization observed between the end of the QRS complex and the beginning of the T wave.","id":"HP:0034304","name":"Epsilon wave","obsolete":false,"parents":["HP:0003115"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of second-degree atrioventricular block in which every other P wave is not conducted through the AV node such that only every other P wave is followed by a QRS complex.","id":"HP:0034305","name":"2:1 atrioventricular block","obsolete":false,"parents":["HP:0011706"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"2:1 AV block"}]} +{"alt_ids":[],"definition":"An electrocardiographic finding of a normal QRS followed by a premature ventricular contraction; a rhythmic pairing of normal and atypical beats originating in the ventricles in a 1-1 ratio such that an ectopic ventricular beat follows each regular heartbeat.","id":"HP:0034306","name":"Ventricular bigeminy","obsolete":false,"parents":["HP:0006682"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The LV end-diastolic internal diameter was measured from two-dimensional (2D) images in the parasternal long-axis view, timed with mitral valve closure at the level of the mitral valve chordae.","id":"HP:0034307","name":"Elevated left ventricular end-diastolic diameter","obsolete":false,"parents":["HP:0005162"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increased in the duration of the P wave, which is a marker of delayed inter-atrial conduction.","id":"HP:0034308","name":"Prolonged P wave","obsolete":false,"parents":["HP:0031595"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Spermatozoa with multiple flagella attached to the sperm head.","id":"HP:0034309","name":"Multiflagellar spermatozoa","obsolete":false,"parents":["HP:0012868"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multi-tailed spermatozoa"}]} +{"alt_ids":[],"definition":"Infection with the yellow fever virus of the live-attenuated vaccine.","id":"HP:0034310","name":"Post-vaccination yellow fever","obsolete":false,"parents":["HP:0020085"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Postvaccination yellow fever"}]} +{"alt_ids":[],"definition":"Developmental defect characterized by undergrowth of the optic chiasm.","id":"HP:0034311","name":"Hypoplastic optic chiasm","obsolete":false,"parents":["HP:0025163"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Optic chiasm hypoplasia"}]} +{"alt_ids":[],"definition":"Abnormally reduced oxyhemoglobin saturation during sleep (nocturnal). Different thresholds are used in the literature, including more than 10 percent of total sleep time below a SpO2 of 90 percent.","id":"HP:0034312","name":"Nocturnal hypoxemia","obsolete":false,"parents":["HP:0012418"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sleep hypoxemia"},{"scope":"EXACT","text":"Sleep-related hypoxemia"}]} +{"alt_ids":[],"definition":"An abnormally increased ejection fraction of the left ventricle, usually defined as a left ventricular ejection fraction greater than 70 percent.","id":"HP:0034313","name":"Hyperdynamic left ventricular ejection fraction","obsolete":false,"parents":["HP:0034314"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality of the left ventricular ejection fraction (LVEF), which is the fraction of chamber volume ejected in systole (stroke volume) in relation to the volume of the blood in the ventricle at the end of diastole (end-diastolic volume). Stroke volume (SV) is calculated as the difference between end-diastolic volume (EDV) and end-systolic volume (ESV). LVEF is calculated as [SV/EDV] in percent.","id":"HP:0034314","name":"Abnormal left ventricular ejection fraction","obsolete":false,"parents":["HP:0005162"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A persistent cough, defined as a cough lasting longer than eight weeks in adults or longer than four weeks in children.","id":"HP:0034315","name":"Chronic cough","obsolete":false,"parents":["HP:0012735"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced volume of pars compacta of the substantia nigra.","id":"HP:0034316","name":"Thinning of the substantia nigra pars compacta","obsolete":false,"parents":["HP:0045007"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to viral infections as manifested by recurrent or severe/invasive viral infection, or by viral infection occurring in an unusual anatomical location.","id":"HP:0034317","name":"Unusual viral infection","obsolete":false,"parents":["HP:0032101"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reactivation is the mechanism whereby a latent virus that has infected a host cell switches to a lytic stage, undergoing productive viral replication and allowing the virus to spread. This term refers to reactivation regarded as unusual because of frequency, intensity, location, or nature of the virus, in the sense that the reactivation would not be observed in an immunocompetent host.","id":"HP:0034318","name":"Unusual virus reactivation","obsolete":false,"parents":["HP:0034317"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A vasculopathy in the central nervous system (CNS) following reactivation of varicella-zoster virus due to a productive viral infection of both large and small cerebral arteries.","id":"HP:0034319","name":"CNS vasculitis with reactivation of varicella-zoster virus","obsolete":false,"parents":["HP:0034318"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Intracytoplasmic inclusions in myofibers that reduce nitro-blue tetrazolium (NBT) and thus stain strongly with the menadione-NBT stain.","id":"HP:0034320","name":"Muscle fiber intracytoplasmic reducing inclusion bodies","obsolete":false,"parents":["HP:0100303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intracytoplasmic myofiber reducing inclusion bodies"}]} +{"alt_ids":[],"definition":"Concentration of guanidinoacetic acid in the blood circulation is above the upper limit of normal.","id":"HP:0034321","name":"Elevated circulating guanidinoacetic acid concentration","obsolete":false,"parents":["HP:0033108"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased circulating guanidinoacetic acid concentration"}]} +{"alt_ids":[],"definition":"Concentration or activity of galactocerebrosidase (EC 3.2.1.46) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts.","id":"HP:0034322","name":"Reduced tissue galactocerebrosidase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Reduced circulating galactocerebrosidase activity"},{"scope":"NARROW","text":"Reduced galactocerebrosidase activity in cultured fibroblasts"},{"scope":"NARROW","text":"Reduced leukocyte galactocerebrosidase activity"}]} +{"alt_ids":[],"definition":"Concentration of growth hormone in the blood circulation below normal limits.","id":"HP:0034323","name":"Reduced circulating growth hormone concentration","obsolete":false,"parents":["HP:0032367"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Growth hormone deficiency"},{"scope":"EXACT","text":"Somatotropin deficiency"}]} +{"alt_ids":[],"definition":"An abnormal widening (dilatation) of the brachiocephalic artery","id":"HP:0034324","name":"Brachiocephalic artery aneurysm","obsolete":false,"parents":["HP:0002617"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dilatated brachiocephalic artery"},{"scope":"EXACT","text":"Innominate artery aneurysm"}]} +{"alt_ids":[],"definition":"An abnormal widening (dilatation) of the common carotid artery.","id":"HP:0034325","name":"Common carotid artery aneurysm","obsolete":false,"parents":["HP:0430021"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inappropriate (ectopic) endometrial tissue proliferation within the uterine myometrium, often presenting clinically with painful menses and heavy menstrual bleeding.","id":"HP:0034326","name":"Adenomyosis","obsolete":false,"parents":["HP:0031105"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Thin, punctiform elements of various colors in the posterior stroma of the cornea, immediately anterior to Descemet membrane. The elements are visible to direct and indirect illumination.","id":"HP:0034327","name":"Posterior corneal stroma punctiform multicolored opacities","obsolete":false,"parents":["HP:0011492"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Punctiform multicolored opacities in the posterior corneal stroma"},{"scope":"EXACT","text":"Punctiform multicoloured opacities in the posterior corneal stroma"}]} +{"alt_ids":[],"definition":"A condition in which the lumen of a bile duct has been filled by fibrous scar material, in effect replacing the bile duct with a fibrous scar.","id":"HP:0034328","name":"Fibro-obliterative bile-duct lesion","obsolete":false,"parents":["HP:0011040"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fibro-obliterative bile-duct scarring"},{"scope":"EXACT","text":"Fibro-obliterative loss of bile ducts"}]} +{"alt_ids":[],"definition":"A congenital brain malformation characterized by marked overgrowth and dysplasia affecting one or both cerebral hemispheres, and, in some cases, subcortical brain regions as well. The presence of dysplasia in dysplastic megalencephaly distinguishes it from other forms of generalized megalencephaly.","id":"HP:0034329","name":"Dysplastic megalencephaly","obsolete":false,"parents":["HP:0001355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bilateral hemimegalencephaly"}]} +{"alt_ids":[],"definition":"Decreased range of right ventricular motion in a portion of the right ventricle of the heart.","id":"HP:0034330","name":"Regional right ventricular hypokinesis","obsolete":false,"parents":["HP:0033118"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Severe hypokinesia of the mid-free wall of the right ventricle of the heart with a normal contraction of the apical segment of the right ventricle.","id":"HP:0034331","name":"McConnell sign","obsolete":false,"parents":["HP:0034330"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Loss of cognitive developmental skills, as manifested by loss of developmental cognitive milestones.","id":"HP:0034332","name":"Cognitive regression","obsolete":false,"parents":["HP:0002376"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Elevated concentration of hypoxanthine in the blood circulation.","id":"HP:0034333","name":"Increased circulating hypoxanthine concentration","obsolete":false,"parents":["HP:0004368"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoxanthine high in blood"}]} +{"alt_ids":[],"definition":"The terms in this hierarchy can be used to specify the context in which inheritance of a disease is typically observed.","id":"HP:0034335","name":"Inheritance qualifier","obsolete":false,"parents":["HP:0000005"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inheritance modifier"}]} +{"alt_ids":[],"definition":"Ischemia and necrosis of part or all of the spleen resulting from compromise of blood supply resulting from arterial or venous occlusion.","id":"HP:0034336","name":"Splenic infarction","obsolete":false,"parents":["HP:0025408"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spleen infarct"},{"scope":"EXACT","text":"Spleen infarction"},{"scope":"EXACT","text":"Splenic infarct"}]} +{"alt_ids":[],"definition":"An abnormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw.","id":"HP:0034337","name":"Claw hand deformity","obsolete":false,"parents":["HP:0009473"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Requires that the abnormal allele be paternal or maternal in origin, depending on the disease-gene relationship. Imprinting refers to a normal developmental process in which either the paternal or maternal allele is inactivated, depending on the specific locus, thus leading to expression from only one copy of the gene. Disease typically manifests when a deleterious variant is inherited from a parent whose copy of the gene would normally be expressed, but not when a deleterious variant is inherited from a parent whose copy of the gene would normally be inactivated.","id":"HP:0034338","name":"Imprinted","obsolete":false,"parents":["HP:0034335"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A pattern of inheritance observed for alleles in the X-Y identical regions is referred to as pseudoautosomal inheritance, because it resembles the pattern seen for alleles located on autosomes.","id":"HP:0034339","name":"Pseudoautosomal inheritance","obsolete":false,"parents":["HP:0034345"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pseudoautosomal region inheritance"}]} +{"alt_ids":[],"definition":"A type of pseudoautosomal inheritance that is dominant and in which heterozygous males and females both manifest a disease phenotype.","id":"HP:0034340","name":"Pseudoautosomal dominant inheritance","obsolete":false,"parents":["HP:0034339"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"monoallelic_PAR"}]} +{"alt_ids":[],"definition":"A type of pseudoautosomal inheritance that is recessive and in which biallelic males and females both manifest a disease phenotype.","id":"HP:0034341","name":"Pseudoautosomal recessive inheritance","obsolete":false,"parents":["HP:0034339"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"biallelic_PAR"}]} +{"alt_ids":[],"definition":"A developmental defect characterized by lack of formation of the trapezius muscle, which is broad superficial muscle that extends from the posterior neck to the posterior part of the trunk (thorax).","id":"HP:0034342","name":"Trapezius muscle aplasia","obsolete":false,"parents":["HP:0011006"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A rarely encountered phenomenon in which condition is most severe in the heterozygous state. Such disorders are rare and currently all are X-linked. Most X-linked recessive conditions manifest if hemizygous in males, or biallelic in females, though may have a mild phenotype in the heterozygous state in females.","id":"HP:0034343","name":"Requires heterozygosity","obsolete":false,"parents":["HP:0034335"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the female sex.","id":"HP:0034344","name":"Female-limited expression","obsolete":false,"parents":["HP:0001470"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A mode of inheritance of diseases whose pathophysiology can be traced back to deleterious variants in a single gene. The inheritance patterns of these single-gene (monogenic) diseases are often referred to as Mendelian in honor of Gregor Mendel.","id":"HP:0034345","name":"Mendelian inheritance","obsolete":false,"parents":["HP:0000005"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of pancreatic beta cells characterized by a proliferation of abnormal beta cells throughout the entire pancreas, with enlarged islet size and number (hypertrophic islets), increased periductular islets, enlarged beta-cell nuclei and abundant clear cytoplasm. Occasionally beta cells with pleomorphic nuclei, ductuloinsular complexes, and neoformation of islets from ducts are observed.","id":"HP:0034346","name":"Nesidioblastosis","obsolete":false,"parents":["HP:0012090"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increase in thickness of the great auricular nerve, a cutaneous nerve of the head. It originates from the cervical plexus, with branches of spinal nerves C2 and C3. Thickening may lead to the nerve being palpable or even visible in this region.","id":"HP:0034347","name":"Greater auricular nerve thickening","obsolete":false,"parents":["HP:3000048"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Palpable great auricular nerve"}]} +{"alt_ids":[],"definition":"A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately below the pulmonary valve.","id":"HP:0034348","name":"Subpulmonary stenosis","obsolete":false,"parents":["HP:0001642"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Infundibular pulmonary stenosis"},{"scope":"EXACT","text":"Infundibular pulmonic stenosis"},{"scope":"EXACT","text":"Subvalvar pulmonary stenosis"},{"scope":"EXACT","text":"Subvalvar pulmonic stenosis"},{"scope":"EXACT","text":"Subvalvular pulmonary stenosis"},{"scope":"EXACT","text":"Subvalvular pulmonic stenosis"}]} +{"alt_ids":[],"definition":"A cardiovascular malformation associated with narrowing at the level of the pulmonary sinotubular junction above the pulmonic valve.","id":"HP:0034349","name":"Supravalvar pulmonary stenosis","obsolete":false,"parents":["HP:0001642"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Supravalvar pulmonnic stenosis"},{"scope":"EXACT","text":"Supravalvular pulmonary stenosis"},{"scope":"EXACT","text":"Supravalvular pulmonic stenosis"}]} +{"alt_ids":[],"definition":"A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately at the level of the pulmonary valve.","id":"HP:0034350","name":"Valvular pulmonary stenosis","obsolete":false,"parents":["HP:0001642"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Peripheral nerve hyperexcitability manifesting as spontaneous discharges originating from motor axons or their terminals, lead to overactivity of muscles, typically manifesting as twitches, cramps and stiffness.","id":"HP:0034351","name":"Neuromyotonia","obsolete":false,"parents":["HP:0032120"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Peripheral nerve hyperexcitability"}]} +{"alt_ids":[],"definition":"An elevated growth from the the mucosa of the bile duct.","id":"HP:0034352","name":"Bile duct polyp","obsolete":false,"parents":["HP:0012440"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of spasticity that affects one or more limbs (arms or legs).","id":"HP:0034353","name":"Appendicular spasticity","obsolete":false,"parents":["HP:0001257"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extremity spasticity"},{"scope":"EXACT","text":"Limb spasticity"},{"scope":"EXACT","text":"Spastic extremities"},{"scope":"EXACT","text":"Spastic limb"},{"scope":"EXACT","text":"Spastic limbs"},{"scope":"EXACT","text":"Spasticity of extremities"},{"scope":"EXACT","text":"Spasticity of extremity"},{"scope":"EXACT","text":"Spasticity of limbs"}]} +{"alt_ids":[],"definition":"Transverse fractures through the hair shafts (trichoschisis). Trichoschisis is characterized by a sharp transverse fracture of the hair shaft.","id":"HP:0034354","name":"Trichoschisis","obsolete":false,"parents":["HP:0003328"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"On computed tomography of the brain,the white (or dense) cerebellum sign is seen when the cerebellum appears dense with respect to the cerebral parenchyma. The increase in attenuation of cerebellum is in fact a relative hyperdensity caused by decreased attenutation of the brain. It represents anoxic-ischemic cerebral injury, and has a very poor prognosis.","id":"HP:0034355","name":"White cerebellum sign","obsolete":false,"parents":["HP:0001317"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption.","id":"HP:0034356","name":"Impaired renal tubular reabsorption of low molecular weight protein","obsolete":false,"parents":["HP:0011038"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased low molecular weight protein excretion"}]} +{"alt_ids":[],"definition":"Increased fractional excretion (FE) of glucose in the urine. The FE of glucose is the percentage of the glucose filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine glucose, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption.","id":"HP:0034357","name":"Impaired renal tubular reabsorption of glucose","obsolete":false,"parents":["HP:0011038"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased fractional excretion (FE) of sodium in the urine. The FE of sodium is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption.","id":"HP:0034358","name":"Impaired renal tubular reabsorption of sodium","obsolete":false,"parents":["HP:0011038"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased fractional excretion (FE) of glucose in the phosphate. The FE of glucose is the percentage of the phosphate filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine phosphate, rather than by the interpretation of urinary phosphate concentration alone, as urinary glucose concentrations can vary with water reabsorption.","id":"HP:0034359","name":"Impaired renal tubular reabsorption of phosphate","obsolete":false,"parents":["HP:0011038"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of myoclonus (arrhythmic muscular jerking) that is induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli.","id":"HP:0034360","name":"Action myoclonus","obsolete":false,"parents":["HP:0001336"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Greater than normal amount of skin surrounding the umbilicus (belly button) with protrusion of the umbilicus above the plane of the abdomen.","id":"HP:0034361","name":"Redundant umbilical skin","obsolete":false,"parents":["HP:0004298"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced brightness of the foveal reflex, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.","id":"HP:0034362","name":"Dull foveal reflex","obsolete":false,"parents":["HP:0000493"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased foveal light reflex"},{"scope":"EXACT","text":"Muted foveal light reflex"},{"scope":"EXACT","text":"Poor foveal light reflex"}]} +{"alt_ids":[],"definition":"Corneal pterygium is an ocular surface disease characterized mainly by a wing-shaped growth of limbal and conjunctival tissue over the adjacent cornea.","id":"HP:0034363","name":"Corneal pterygium","obsolete":false,"parents":["HP:0000502"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Surfer's eye"},{"scope":"EXACT","text":"Wing-shaped conjunctiva"}]} +{"alt_ids":[],"definition":"Replacement of the myocardium of the right ventricular free wall by fat and fibrous tissue.","id":"HP:0034364","name":"Fibrofatty replacement of right ventricular myocardium","obsolete":false,"parents":["HP:0001707"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased concentration of alpha-aminoadipic semialdehyde in the blood circulation.","id":"HP:0034365","name":"Elevated circulating alpha-aminoadipic semialdehyde concentration","obsolete":false,"parents":["HP:0010995"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating piperideine-6-carboxylic acid concentration"}]} +{"alt_ids":[],"definition":"Fracture blister is a type of blister that forms following acute bone fractures, typically near the ankle, wrist elbow or foot, where skin adheres tightly to bone with little subcutaneous fat cushioning. The blister that results resembles that of a second degree burn.","id":"HP:0034366","name":"Fracture blister","obsolete":false,"parents":["HP:0033800"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of the enzyme beta-mannosidase below the lower limit of normal. Beta-mannosidase is a lysosomal enzyme that catabolizes oligosaccharides.","id":"HP:0034367","name":"Decreased circulating beta-mannosidase activity","obsolete":false,"parents":["HP:0034725"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Renal stones are formed within the kidneys, and this is called nephrolithiasis. Urolithiasis is a condition that occurs when these stones exit the renal pelvis and move into the remainder of the urinary collecting system, which includes the ureters, bladder, and urethra.","id":"HP:0034368","name":"Urolithiasis","obsolete":false,"parents":["HP:0025633"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced amount of coenzyme Q10,a naturally occurring quinone, in skeletal muscle tissue.","id":"HP:0034369","name":"Decreased level of coenzyme Q10 in skeletal muscle","obsolete":false,"parents":["HP:0034370"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0034370","name":"Abnormal muscle tissue metabolite concentration","obsolete":false,"parents":["HP:0011805","HP:0032243"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of prekallikrein in the blood circulation is below the lower limit of normal.","id":"HP:0034371","name":"Decreased circulating prekallikrein concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0034372","name":"Internal tibial torsion","obsolete":false,"parents":["HP:0100694"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Internal tibial rotation"}]} +{"alt_ids":[],"definition":"External twisting of the tibia resulting in the toes of each foot pointing outward (outtoeing) .","id":"HP:0034373","name":"External tibial torsion","obsolete":false,"parents":["HP:0100694"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"External tibial rotation"}]} +{"alt_ids":[],"definition":"Abnormal appearance of the acetabulum characterized by spurs at the medial and lateral acetabular margin and in the center of the acetabulum, giving rise to shape resembling a three-pronged spear sadi to resemble a trident.","id":"HP:0034374","name":"Trident acetabulum","obsolete":false,"parents":["HP:0010454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Trident acetabula"}]} +{"alt_ids":[],"definition":"Spherophakia is a rare congenital condition that presents with weak zonules around a more spherical crystalline lens with an increased anteroposterior thickness of the lens, and highly myopic eye. The lens zonules are developmentally hypoplastic and abnormally weak and due to non-attachment of the posterior zonules to the equatorial zone of the lens, the lens changes its normal shape to spherical.","id":"HP:0034375","name":"Spherophakia","obsolete":false,"parents":["HP:0011526"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Regurgitation of a heart valve that controls blood flow from a an atrium to a ventricle, including mitral, tricuspid, or, rarely, single atrioventicular valve.","id":"HP:0034376","name":"Atrioventricular valve regurgitation","obsolete":false,"parents":["HP:0031650"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Regurgitation of the single atrioventricular valve regurgitation (AVVR) in the context of a congenital heart defect with a single ventricle. Roughly three quarters of patients following Fontan procedure display AVVR.","id":"HP:0034377","name":"Single atrioventricular valve regurgitation","obsolete":false,"parents":["HP:0034376"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Blockage of the flow of urine from the bladder into the urethra.","id":"HP:0034378","name":"Urethrovesical occlusion","obsolete":false,"parents":["HP:0000796"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide.","id":"HP:0034379","name":"obsolete Vascular granular osmiophilic material deposition","obsolete":true,"parents":[],"replaced_by":["HP:0003657"],"synonyms":[]} +{"alt_ids":[],"definition":"Juvenile granulosa cell tumor of the testis of neonates and infants is an uncommon lesion frequently associated with abnormal sex chromosome and ambiguous genitalia.","id":"HP:0034380","name":"Juvenile type testicular granulosa cell tumor","obsolete":false,"parents":["HP:0010788"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Axonal spheroids are bubble-like biological features that form on most degenerating axons. During neurodegeneration, bubble-like swellings form along the length of the axon, a primary and early effect of dynamic axonal deformation. These varicosities, spheroids, or swellings have been described as beads on a string and branches bearing fruit, and they frequently appear on degenerating axons. The focal swellings on degenerating axons, axonal spheroids, are often filled with cellular debris such as organelles, pathological proteins, and disorganized cytoskeletal elements.","id":"HP:0034381","name":"Central nervous system axonal spheroid","obsolete":false,"parents":["HP:0002011"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CNS axonal spheroid"}]} +{"alt_ids":[],"definition":"A decrease in or disappearance of signs and symptoms typically associated with a disease course.","id":"HP:0034382","name":"Disease remission","obsolete":false,"parents":["HP:0031797"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased concentration of biliverdin, a green tetrapyrrolic bile pigment, in the blood circulation.","id":"HP:0034383","name":"Elevated circulating biliverdin concentration","obsolete":false,"parents":["HP:0010995"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased ratio of insulin to C-peptide in the blood circulation.","id":"HP:0034384","name":"Elevated circulating insulin:C-peptide ratio","obsolete":false,"parents":["HP:0040214"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal range of the left ventricular endsystolic diameter.","id":"HP:0034385","name":"Abnormal left ventricular endsystolic diameter","obsolete":false,"parents":["HP:0025169"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A lower than normal left ventricular endsystolic diameter.","id":"HP:0034386","name":"Reduced left ventricular endsystolic diameter","obsolete":false,"parents":["HP:0034385"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Encephalitis caused by bacterial infection.","id":"HP:0034387","name":"Bacterial encephalitis","obsolete":false,"parents":["HP:0002383","HP:5210000"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hilar lymphadenopathy is swelling or enlargement of lymph nodes localized in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral).","id":"HP:0034388","name":"Hilar lymph node enlargement","obsolete":false,"parents":["HP:0002716"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hilar adenopathy"},{"scope":"EXACT","text":"Hilar lymphadenopathy"}]} +{"alt_ids":[],"definition":"Pulmonary vein varix (PVV), refers to a localized dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent.","id":"HP:0034389","name":"Pulmonary vein varix","obsolete":false,"parents":["HP:0030968"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pulmonary vein dilatation"}]} +{"alt_ids":[],"definition":"Abnormally decreased levels of glycine in cerebrospinal fluid.","id":"HP:0034390","name":"Decreased CSF glycine concentration","obsolete":false,"parents":["HP:0500229"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Glycine low in CSF"}]} +{"alt_ids":[],"definition":"A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.","id":"HP:0034391","name":"Elbow contracture","obsolete":false,"parents":["HP:0100360"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A limitation in the passive range of motion of a joint resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part.","id":"HP:0034392","name":"Joint contracture","obsolete":false,"parents":["HP:0003549","HP:0011729","HP:0011805","HP:0100261"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Contracture"}]} +{"alt_ids":[],"definition":"An elbow contracture that limits the ability of the elbow joint to flex (flexion of the the elbow joint refers to bending the elbow joint to bring the hand closer to the shoulder), meaning that the elbow is fixed in an extended (straight) position.","id":"HP:0034393","name":"Elbow extension contracture","obsolete":false,"parents":["HP:0034391"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A contracture that limits the ability of the forearm to stabilize the hand in pronation (pronation refers to a rotation of the forearm that causes the palm and forearm to face downwards), meaning that the palm is fixed in a upward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between.","id":"HP:0034394","name":"Forearm supination contracture","obsolete":false,"parents":["HP:0100360"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Supination contracture of the forearm"}]} +{"alt_ids":[],"definition":"A contracture that limits the ability of the forearm to stabilize the hand in supiation (supination refers to a rotation of the forearm that causes the palm and forearm to face upwards), meaning that the palm is fixed in a downward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between.","id":"HP:0034395","name":"Forearm pronation contracture","obsolete":false,"parents":["HP:0100360"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pronation contracture of the forearm"}]} +{"alt_ids":[],"definition":"Hippocampal malrotation, also termed incomplete inversion of the hippocampus or hippocampal malformation, is an increasingly recognized neuroimaging finding of undetermined clinical significance. It is characterized by features including (i) Round or pyramidal shape instead of ovoid shape; (ii) Medial position of the hippocampus on the hippocampal sulcus; (iii) The collateral sulcus is excessively deep or verticalized; (iv) Fimbria located medial to the hippocampus; (v) Small or displaced fornix; (vi) Enlarged temporal horn and empty choroid fissure; (vii) Thickened subiculum; (viii) Reduced upper horizontal portion of the parahippocampal gyrus.","id":"HP:0034396","name":"Hippocampal malrotation","obsolete":false,"parents":["HP:0025100"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Claw toes are characterized by hyperextension at the metatarsal-phalangeal joints and flexion of the interphalangeal joints.","id":"HP:0034397","name":"Claw toe deformity","obsolete":false,"parents":["HP:0034398"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal positioning of toe phalanges. Deformities of the lesser toes often occur gradually, though they can be brought on by trauma. The main adult sagittal plane deformities consist of claw toes, hammer toes and mallet toes. Axial plane deformities include crossover toes.","id":"HP:0034398","name":"Toe deformity","obsolete":false,"parents":["HP:0001780"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased duration of the central motor conduction time (CMCT). The CMCT estimates the conduction time of corticospinal fibers between motor cortex and spinal (or bulbar) motoneurons. It includes the times for excitation of cortical cells, conduction via the corticobulbar-corticospinal tract and excitation of the motoneuron sufficient to reach its firing threshold. CMCT is calculated by subtracting the peripheral conduction time from the MEP latency recorded after cortical stimulation.","id":"HP:0034399","name":"Prolonged central motor conduction time","obsolete":false,"parents":["HP:0012079"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Ringed creases of the skin of the extremities related to folding of excess skin.","id":"HP:0034400","name":"Circumferential skin creases on extremities","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the SMARCB1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia.","id":"HP:0034401","name":"Atypical teratoid/rhabdoid tumor","obsolete":false,"parents":["HP:0002898"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A highly aggressive, extremely rare neoplasm of the kidney that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers, and pathologic diagnosis requires familiarity with these microscopic features plus awareness that adult onset is possible. It can be associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm.","id":"HP:0034402","name":"Rhabdoid tumor of the kidney","obsolete":false,"parents":["HP:0009726","HP:0034557"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Malignant rhabdoid tumor of the kidney"},{"scope":"EXACT","text":"Malignant rhabdoid tumour of the kidney"}]} +{"alt_ids":[],"definition":"A form of T-cell non-Hodgkin lymphoma in which cytotoxic CD8+ T cells infiltrate adipose tissue forming subcutaneous nodules.","id":"HP:0034403","name":"Subcutaneous panniculitis-like T-cell lymphoma","obsolete":false,"parents":["HP:0012190"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of hyphae (long, branching, filamentous structures produced by fungi) in sputum.","id":"HP:0034404","name":"Fungal hyphae in sputum","obsolete":false,"parents":["HP:0032016"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increasaed size of the tectum, which is the region of the midbrain posterior to the cerebral aqueduct of Sylvius. The midbrain is the most superior portion of the brainstem.","id":"HP:0034405","name":"Enlarged tectum","obsolete":false,"parents":["HP:0002363"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thick tectum"}]} +{"alt_ids":[],"definition":null,"id":"HP:0034406","name":"Elevated CSF angiotensin-converting enzyme concentration","obsolete":false,"parents":["HP:0025456"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Angiotensin-converting enzyme (ACE) high in CSF"},{"scope":"EXACT","text":"Angiotensin-converting enzyme high in CSF"}]} +{"alt_ids":[],"definition":"Decreased concentration of 3-ketoacyl-CoA thiolase in th blood circulation.","id":"HP:0034407","name":"Reduced circulating 3-ketoacyl-CoA thiolase concentration","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"3-ketoacyl-CoA thiolase (THIO) deficiency"}]} +{"alt_ids":[],"definition":"A dark, keratotic papule about 2-10 mm in diameter, usually occurring on the lower extremeities. Usually the lesions begin as bright, soft, and nonkeratotic paules which grow larger and change to a firm, blue to black and keratotic stage.","id":"HP:0034408","name":"Solitary angiokeratoma","obsolete":false,"parents":["HP:0001014"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of angiokeratoma that most commonly occurs on the scrotum of patients who are 40 years old or older. The typical single lesion is a dark red to blue dome-shaped papule 2-4 mm in diameter with a very discrete keratotic surface. Typically, they are multiple and arranged in a line parallel to the raphe mediana of the scrotum. They also occur on the vulva and less commnly on the penis.","id":"HP:0034409","name":"Fordyce angiokeratoma","obsolete":false,"parents":["HP:0001014"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of angiokeratoma that typically presents in childhood as a large, mostly linear and unilateral hyperkeratotic plaque which is composed of confluent keratotic papules. The size ranges from a few centimeters up to a major part of the body surface. Initially the lesions present as multiple reddish macules, clinically similar to a nevus flammeus. Within several years they develop into acanthokeratotic papules that agrregate into plaques which may have a hyperkeratotic surface.","id":"HP:0034410","name":"Angiokeratoma circumscriptum naeviforme","obsolete":false,"parents":["HP:0001014"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of angiokeratoma that typically presents in women on the dorsa of fingers and toes and multiple dark red papules with a slightly verrucous surface, each measuring about 3-5 mm in diameter.","id":"HP:0034411","name":"Angiokeratoma of Mibelli","obsolete":false,"parents":["HP:0001014"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A lump in the region of the larynx. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup. Laryngeal masses can be visualized by multiple methods include computed tomography.","id":"HP:0034412","name":"Laryngeal mass","obsolete":false,"parents":["HP:0025423"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A lump in the region of the palate. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup.","id":"HP:0034413","name":"Palate mass","obsolete":false,"parents":["HP:0000174"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased thickness of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip.","id":"HP:0034414","name":"Thick oral frenulum","obsolete":false,"parents":["HP:0000190"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"oral frenulum, thick"}]} +{"alt_ids":[],"definition":"A type of dental trauma characterized by total dislocation of the tooth from its socket.","id":"HP:0034415","name":"Tooth avulsion","obsolete":false,"parents":["HP:0006482"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Avulsed tooth"},{"scope":"EXACT","text":"Teeth: avulsion"}]} +{"alt_ids":[],"definition":"Laceration or tear of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip.","id":"HP:0034416","name":"Torn oral frenulum","obsolete":false,"parents":["HP:0000190"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Laceration of oral frenulum"},{"scope":"EXACT","text":"Oral frenulum, torn"}]} +{"alt_ids":[],"definition":"A wound of the mucosa within the oral cavity covering lips, tongue, palate, gingiva, pharynx, or retropharynx.","id":"HP:0034417","name":"Intraoral laceration","obsolete":false,"parents":["HP:0011830"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intraoral lacerations"}]} +{"alt_ids":[],"definition":"An erythematous lesion of the oral mucosa may result from a variety of tissue alterations, including inflammation, erythrocyte extravasation, and atrophy or reduced keratinization of the surface epithelium.","id":"HP:0034418","name":"Erythematous oral mucosa","obsolete":false,"parents":["HP:0011830"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Oral mucosa erythema"}]} +{"alt_ids":[],"definition":"Breakage of the chordae tendinae of the mitral valve. This can lead to loss of tension of one of the mitral valve leaflets and mitral regurgitation.","id":"HP:0034419","name":"Mitral chordae tendinae rupture","obsolete":false,"parents":["HP:0025523"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flail mitral valve leaflet"},{"scope":"EXACT","text":"Mitral chordae tendineae rupture"}]} +{"alt_ids":[],"definition":"Indicates that a cardiovascular procedure such as stenting, bypass, catherization was performed on a patient.","id":"HP:0034420","name":"History of cardiovascular procedure","obsolete":false,"parents":["HP:0430103"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A high-pitched sound that occurs at the moment of maximal opening of the aortic or pulmonary valves. They are heard just after the first heart sound. The sounds occur in the presence of a dilated aorta or pulmonary artery or in the presence of a bicuspid or flexible stenotic aortic or pulmonary valve. Ejection clicks may also be called ejection sounds.","id":"HP:0034421","name":"Ejection click","obsolete":false,"parents":["HP:0031657"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cardiac click sound on auscultation"}]} +{"alt_ids":[],"definition":"Cryofibrinogen is an abnormal protein that forms precipitate only in plasma. consisting of fibrinogen, fibronectin, alpha1-antitrypsin and alpha2-macroglobulin.","id":"HP:0034422","name":"Cryofibrinogenemia","obsolete":false,"parents":["HP:0011898"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by exposure to allergens.","id":"HP:0034423","name":"Triggered by allergens","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of tinnitus that presents as clicks, resembling the noise made by the snapping together of 2 fingers.","id":"HP:0034424","name":"Clicking tinnitus","obsolete":false,"parents":["HP:0000360"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally low amount of sulfur in hair.","id":"HP:0034425","name":"Reduced hair sulfur content","obsolete":false,"parents":["HP:0003328"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hair sulfur content reduced"},{"scope":"EXACT","text":"Hair sulphur content reduced"}]} +{"alt_ids":[],"definition":"Secretion of colored sweat.","id":"HP:0034426","name":"Chromhidrosis","obsolete":false,"parents":["HP:0000971"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Secretion of pus-like (purulent) material from the eye, which may caused the eyelids to be matted together.","id":"HP:0034427","name":"Purulent eye discharge","obsolete":false,"parents":["HP:0100533"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mucopurulent discharge from the eye"}]} +{"alt_ids":[],"definition":"Disproportionately large eyelids","id":"HP:0034428","name":"Megaloblepharon","obsolete":false,"parents":["HP:0000492"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of bacteria in the cerebrospinal fluid, as manifested by visual inspection or bacterial culture results.","id":"HP:0034429","name":"Bacteria in cerebrospinal fluid","obsolete":false,"parents":["HP:0034747"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bacteria in CSF"}]} +{"alt_ids":[],"definition":null,"id":"HP:0034430","name":"Abnormal joint physiology","obsolete":false,"parents":["HP:0011843"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A popping, clicking or crackling sound that accompaniees movement of a joint.","id":"HP:0034431","name":"Joint crepitus","obsolete":false,"parents":["HP:0034430"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to the localization of a skin lesion involving any area of the body where two opposing skin surfaces can touch and rub or chaff.","id":"HP:0034432","name":"Intertriginous distribution","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intertriginous distribution of skin lesions"}]} +{"alt_ids":[],"definition":"Applies to the localization of a skin lesion that correspond to skin tension lines, which are linear clefts in the skin that indicate the direction of orientation of the underlying collagen fibers. Skin tension lines are also known as Langer's lines or lines of cleavage.","id":"HP:0034433","name":"Distributed along skin tension lines","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Distributed along Langer's lines"},{"scope":"EXACT","text":"Lesions follow lines of cleavage"}]} +{"alt_ids":["HP:5200128"],"definition":"Presence of any form of communication (e.g., verbal or non-verbal) that does not align with cultural expectations or developmental level.","id":"HP:0034434","name":"Abnormal communication","obsolete":false,"parents":["HP:0025792"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality of eye contact behavior. We define eye contact as a form of nonverbal communication between two individuals who are facing each other in which an individual directs the eyes towards the eyes or face of the other individual. Eye contact occurs frequently and voluntarily during face-to-face verbal communication. The duration and frequency of eye contact that is interpreted to be appropriate may follow social and situational norms.","id":"HP:0034435","name":"Abnormal eye contact","obsolete":false,"parents":["HP:0000758"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deliberate avoidance of eye contact.","id":"HP:0034436","name":"Gaze avoidance","obsolete":false,"parents":["HP:0034435"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gaze aversion"}]} +{"alt_ids":[],"definition":"Tendency to maintain sustained eye contact for an inappropriately long period of time.","id":"HP:0034437","name":"Excessive eye contact","obsolete":false,"parents":["HP:0034435"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of glans penis","id":"HP:0034438","name":"Balanitis","obsolete":false,"parents":["HP:0000036"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality that is situated in the arched middle portion of the foot in front of the ankle joint (i.e., instep).","id":"HP:0034439","name":"Instep location","obsolete":false,"parents":["HP:0012838"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Instep localization to skin abnormality"}]} +{"alt_ids":[],"definition":"Applies to a skin lesion that is improved or made more bearable by exposure to ultraviolet light (sunshine or phototherapy).","id":"HP:0034440","name":"Ameliorated by ultraviolet light exposure","obsolete":false,"parents":["HP:0025254"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ultraviolet exposure improves condition"}]} +{"alt_ids":[],"definition":"The concentration of aspartic acid in the blood circulation is below the lower limit of normal.","id":"HP:0034441","name":"Decreased circulating aspartic acid concentration","obsolete":false,"parents":["HP:0500158"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aspartic acid low in blood"},{"scope":"EXACT","text":"Decreased aspartic acid concentration"},{"scope":"EXACT","text":"Decreased aspartic acid level"},{"scope":"EXACT","text":"Decreased aspartic acid level in blood"},{"scope":"EXACT","text":"Reduced aspartic acid concentration"},{"scope":"EXACT","text":"Reduced aspartic acid level"},{"scope":"EXACT","text":"Reduced aspartic acid level in blood"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.","id":"HP:0034442","name":"Abnormal circulating erythropoietin concentration","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.","id":"HP:0034443","name":"Reduced circulating erythropoietin concentration","obsolete":false,"parents":["HP:0034442"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Erythropoietin low in blood"}]} +{"alt_ids":[],"definition":"Any deviation from the normal level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.","id":"HP:0034444","name":"Abnormal gamma-glutamyltransferase level","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.","id":"HP:0034445","name":"Reduced gamma-glutamyltransferase level","obsolete":false,"parents":["HP:0034444"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gamma-glutamyl transferase low in blood"}]} +{"alt_ids":[],"definition":"Increased concentration of histamine in the blood circulation.","id":"HP:0034446","name":"Elevated circulating histamine concentration","obsolete":false,"parents":["HP:0033405"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Histamine high in blood"}]} +{"alt_ids":[],"definition":"An increased concentration of interleukin-18 in the blood circulation.","id":"HP:0034447","name":"Increased circulating interleukin 18 concentration","obsolete":false,"parents":["HP:0011117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"IL-18 high in blood"}]} +{"alt_ids":[],"definition":"Any deviation from the normal ratio of blood phytanic acid concentration to pristanic acid concentration.","id":"HP:0034448","name":"Abnormal phytanic acid:pristanic acid ratio","obsolete":false,"parents":["HP:0010964"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal phytanic acid to pristanic acid ratio"},{"scope":"EXACT","text":"Abnormal phytanic acid/pristanic acid ratio"}]} +{"alt_ids":[],"definition":"An elevation above the normal ratio of blood phytanic acid concentration to pristanic acid concentration.","id":"HP:0034449","name":"Increased phytanic acid:pristanic acid ratio","obsolete":false,"parents":["HP:0034448"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Phytanic acid to pristanic acid ratio high"}]} +{"alt_ids":[],"definition":"A reduction below the normal ratio of blood phytanic acid concentration to pristanic acid concentration.","id":"HP:0034450","name":"Decreased phytanic acid:pristanic acid ratio","obsolete":false,"parents":["HP:0034448"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Phytanic acid to pristanic acid ratio low"}]} +{"alt_ids":[],"definition":"An aberrant, pathological communication between the rectum and the bladder.","id":"HP:0034451","name":"Rectovesical fistula","obsolete":false,"parents":["HP:0004321","HP:0100590"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vesicorectal fistula"}]} +{"alt_ids":[],"definition":"An abnormal connection (fistula) between the rectum and the ureter.","id":"HP:0034452","name":"Rectoureteral fistula","obsolete":false,"parents":["HP:0100590"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of the umbilicus.","id":"HP:0034453","name":"Hypoplastic umbilicus","obsolete":false,"parents":["HP:0001551"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Umbilicus hypoplastic"}]} +{"alt_ids":[],"definition":"Arachnoid granulations (AGs) are tufts of arachnoid membrane invaginated into the dural sinuses through which cerebrospinal fluid (CSF) enters the venous system. The lesions are primarily located in the parasagittal region along the superior sagittal sinus, which is occasionally seen at the transverse sinus. Normally dural venous sinus AGs typically range from 2 to 8 mm in size, but may grow enough to expand the dural sinuses, and even the inner table, diploic space and outer table of the skull.","id":"HP:0034454","name":"Arachnoid granulation","obsolete":false,"parents":["HP:0100700"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased concentration of taurine in the cerebrospinal fluid (CSF).","id":"HP:0034455","name":"Increased CSF taurine concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Taurine high in CSF"}]} +{"alt_ids":[],"definition":"An abnormally increased level of glutathione in the blood circulation.","id":"HP:0034456","name":"Elevated circulating glutathione concentration","obsolete":false,"parents":["HP:0033109"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Glutathione high in blood"}]} +{"alt_ids":[],"definition":"The concentration of hawkinsin in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0034457","name":"Hawkinsinuria","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hawkinsin high in urine"}]} +{"alt_ids":[],"definition":"An abnormally increased amount of phenylpyruvic acid in the urine.","id":"HP:0034458","name":"Elevated urinary phenylpyruvic acid level","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Phenylpyruvic acid high in urine"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by lumbar puncture.","id":"HP:0034459","name":"Ameliorated by lumbar puncture","obsolete":false,"parents":["HP:0025254"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lumbar puncture relieves symptoms"}]} +{"alt_ids":[],"definition":"An increased level of uracil in the cerebrospinal fluid.","id":"HP:0034460","name":"Increased CSF uracil concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased amount of kynurenine in the urine.","id":"HP:0034461","name":"Elevated urine kynurenine level","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Kynurenine high in urine"}]} +{"alt_ids":[],"definition":"An abnormally increased concentration of L-alloisoleucine in the cerebrospinal fluid (CSF).","id":"HP:0034462","name":"Increased CSF L-alloisoleucine concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"L-alloisoleucine high in CSF"}]} +{"alt_ids":[],"definition":"An increased concentration of hydroxylysine in the blood circulation. Hydroxylysine arises from a post-translational hydroxy modification of lysine and is unique to collagen and proteins containing collagen-like sequences. Elevated concentrations of hydroxylysine may indicate increased bone turnover.","id":"HP:0034463","name":"Hydroxylysinemia","obsolete":false,"parents":["HP:0010908"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hydroxylysine present in blood"}]} +{"alt_ids":[],"definition":"An increased amount of L-homocitrulline in the urine. L-homocitrulline is an L-lysine derivative that is L-lysine having a carbamoyl group at the N(6)-position. It is found in individuals with urea cycle disorders.","id":"HP:0034464","name":"Homocitrullinuria","obsolete":false,"parents":["HP:0033098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Homocitrulline present in urine"}]} +{"alt_ids":[],"definition":"The concentration of 2-hydroxyadipic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0034465","name":"2-hydroxyadipic aciduria","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"2-hydroxyadipic acid high in urine"}]} +{"alt_ids":[],"definition":"An increased amount of homoarginine in the urine. Homoarginine is a nonproteinogenic alpha amino acid.","id":"HP:0034466","name":"Homoargininuria","obsolete":false,"parents":["HP:0033098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Homoarginine high in urine"}]} +{"alt_ids":[],"definition":"An increased concentration of cysteine in the urine.","id":"HP:0034467","name":"Increased urinary cysteine level","obsolete":false,"parents":["HP:0033095"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Gastric xanthomas (also known as xanthelasmas) are are plaque-like red lesions defined by the presence of histiocytic containing lipids.","id":"HP:0034468","name":"Gastric xanthoma","obsolete":false,"parents":["HP:0002577"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gastric xanthomas"},{"scope":"EXACT","text":"Gastric xanthomata"}]} +{"alt_ids":[],"definition":"Reduced amount of pancreatic elastase in the stool. This feature may be observed with pancreatic insufficiency.","id":"HP:0034469","name":"Decreased stool elastase level","obsolete":false,"parents":["HP:0031685"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elastase low in stool"}]} +{"alt_ids":[],"definition":"Elevated amount of chloride in the stool.","id":"HP:0034470","name":"Elevated stool chloride content","obsolete":false,"parents":["HP:0031685"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chloride high in stool"},{"scope":"EXACT","text":"Elevations in faecal chloride concentration"},{"scope":"EXACT","text":"Elevations in fecal chloride concentration"}]} +{"alt_ids":[],"definition":"Abnormal relative increase in the amount of fecal coproporphyrin III as compared to coproporphyrin I in the feces.","id":"HP:0034471","name":"Increased fecal coproporphyrin III:coproporphyrin I ratio","obsolete":false,"parents":["HP:0031685"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Coproporphyrin isomer III/I ratio high in stool"},{"scope":"EXACT","text":"Increased faecal CIII:CI ratio"},{"scope":"EXACT","text":"Increased fecal CIII:CI ratio"}]} +{"alt_ids":[],"definition":"Abnormally high concentration of harderoporphyrin in feces.","id":"HP:0034472","name":"Increased fecal harderoporphyrin","obsolete":false,"parents":["HP:0032999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Harderoporphyrin high in stool"}]} +{"alt_ids":[],"definition":"Abnormally high concentration of heptacarboxylporphyrin in feces.","id":"HP:0034473","name":"Increased fecal heptacarboxylporphyrin","obsolete":false,"parents":["HP:0032999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Heptacarboxylporphyrin high in stool"}]} +{"alt_ids":[],"definition":"Abnormally high concentration of pentacarboxylporphyrin in feces.","id":"HP:0034474","name":"Increased fecal pentacarboxylporphyrin","obsolete":false,"parents":["HP:0032999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pentacarboxylporphyrin high in stool"}]} +{"alt_ids":[],"definition":"Abnormally high concentration of isocoproporphyrin in feces.","id":"HP:0034475","name":"Increased fecal isocoproporphyrin","obsolete":false,"parents":["HP:0032999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Isocoproporphyrin high in stool"}]} +{"alt_ids":[],"definition":"Identification of Clostridium botulinum toxin in the feces.","id":"HP:0034476","name":"Positive fecal Clostridium botulinum test","obsolete":false,"parents":["HP:0034866"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Clostridium botulinum toxin in stool"}]} +{"alt_ids":[],"definition":"Abnormal union of the membranous surfaces of the liver capsule and the parietal peritoneum due to inflammation or injury. Adhesions may be visualized by laparoscopy and may have a violin string appearance.","id":"HP:0034477","name":"Perihepatic adhesions","obsolete":false,"parents":["HP:0002585"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Peri-hepatic adhesions"}]} +{"alt_ids":[],"definition":"Abnormal increase in diameter (expansion) of the vas deferens.","id":"HP:0034478","name":"Dilated vas deferens","obsolete":false,"parents":["HP:0012872"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vas deferens dilated"}]} +{"alt_ids":[],"definition":"Abnormal increase in the size of the epididymis.","id":"HP:0034479","name":"Enlarged epididymis","obsolete":false,"parents":["HP:0009714"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Epididymis enlarged"}]} +{"alt_ids":[],"definition":null,"id":"HP:0034480","name":"Absent epididymidis","obsolete":false,"parents":["HP:0009714"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent epididymides"},{"scope":"EXACT","text":"Epididymides absent"}]} +{"alt_ids":[],"definition":"Spontaneous production of communicative gestures that are perceived as odd or mechanical, or are poorly integrated with other means of communication. This may include inaccurate mimicry of typical gestures.","id":"HP:0034481","name":"Atypical gestures","obsolete":false,"parents":["HP:4000090"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0034482","name":"Abnormal spinal cord physiology","obsolete":false,"parents":["HP:0012638"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of lymphocytes with multilple vacuoles (a membrane-bound cell organelle) in the bone marrow.","id":"HP:0034483","name":"Bone marrow vacuolated lymphocytes","obsolete":false,"parents":["HP:0005561"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bone marrow: vacuolated lymphocytes"}]} +{"alt_ids":[],"definition":"The presence of calcium deposition in the spinal cord.","id":"HP:0034484","name":"Spinal cord calcifications","obsolete":false,"parents":["HP:0002143"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign epithelial-lined cystic lesion that can occur anywhere in the neuraxis. Neuroepithelial cysts are ependymal or epithelial lined fluid collections of unknown etiology within the central nervous system parenchyma with no obvious ventricular or subarachnoid connection. Most cysts are asymptomatic, however, some present with seizures, mass effect, or rarely with movement disorders. On imaging, they present as CSF-like parenchymal cysts with smooth, rounded borders and minimal or no surrounding signal intensity abnormality.","id":"HP:0034485","name":"Neuroepithelial cyst","obsolete":false,"parents":["HP:0030063","HP:0100835"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Glioependymal cyst"},{"scope":"EXACT","text":"Neuroglial cyst"}]} +{"alt_ids":[],"definition":"A diminished concentration of interleukin-7 in the circulation.","id":"HP:0034486","name":"Reduced circulating interleukin 7 concentration","obsolete":false,"parents":["HP:0011117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"IL-7 low in blood"}]} +{"alt_ids":[],"definition":"An increased concentration of interleukin-12 in the blood circulation.","id":"HP:0034487","name":"Increased circulating interleukin 12 concentration","obsolete":false,"parents":["HP:6000442"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"IL-12 high in blood"}]} +{"alt_ids":[],"definition":"An increased concentration of interleukin-13 in the blood circulation.","id":"HP:0034488","name":"Increased circulating interleukin 13 concentration","obsolete":false,"parents":["HP:0011117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"IL-13 high in blood"}]} +{"alt_ids":[],"definition":"An increased concentration of interleukin-2 in the blood circulation.","id":"HP:0034489","name":"Increased circulating interleukin 2 concentration","obsolete":false,"parents":["HP:0011117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"IL-2 high in blood"}]} +{"alt_ids":[],"definition":"An increased concentration of interleukin-4 in the blood circulation.","id":"HP:0034490","name":"Increased circulating interleukin 4 concentration","obsolete":false,"parents":["HP:0011117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"IL-4 high in blood"}]} +{"alt_ids":[],"definition":"An increased concentration of interleukin-5 in the blood circulation.","id":"HP:0034491","name":"Increased circulating interleukin 5 concentration","obsolete":false,"parents":["HP:0011117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"IL-5 high in blood"}]} +{"alt_ids":[],"definition":"An inflammation of the fallopian tube.","id":"HP:0034492","name":"Salpingitis","obsolete":false,"parents":["HP:0011027"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tubo-ovarian abscess (TOA) is a complex infectious mass of the adnexa that forms as a sequela of pelvic inflammatory disease.","id":"HP:0034493","name":"Tubo-ovarian abscess","obsolete":false,"parents":["HP:0100592"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"White appearance (radio-opaqueness) of a paranasal sinus on radiography.","id":"HP:0034494","name":"Opacified paranasal sinuses","obsolete":false,"parents":["HP:0000245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Paranasal sinuses opacification"},{"scope":"EXACT","text":"Paranasal sinuses opacified"}]} +{"alt_ids":[],"definition":"An increased in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).","id":"HP:0034495","name":"Elevated brain glutamine level by MRS","obsolete":false,"parents":["HP:0034496"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from normal in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).","id":"HP:0034496","name":"Abnormal brain glutamine level by MRS","obsolete":false,"parents":["HP:0012705"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of hexanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0034497","name":"Increased urinary hexanoic acid level","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hepatic focal nodular hyperplasia (FNH) is a benign hepatic tumor. FNH develops within hepatic parenchymal tissue that is otherwise histologically normal. Macroscopically, the tumor is characterized by the presence of depressed, grayish-white scar, which is generally (but not always) located at the center of the lesion, with fibrous septa radiating outward, toward the periphery of the tumor. This stellate scar is found in only 50% of all FNH nodules, but its presence is regarded as pathognomonic. The lesion itself is usually lighter in color than the tissue that surrounds it, and it sometimes has a yellowish hue. FNH nodules are generally not capsulated; their margins are well defined, and they are sometimes lobulated.","id":"HP:0034498","name":"Hepatic focal nodular hyperplasia","obsolete":false,"parents":["HP:0002896"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal nodular hyperplasia"}]} +{"alt_ids":[],"definition":"An increased amount of iron in the bone marrow.","id":"HP:0034499","name":"Increased bone marrow iron","obsolete":false,"parents":["HP:0005561"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bone marrow: iron stores increased"}]} +{"alt_ids":[],"definition":"A fracture of the glenoid fossa, a relatively shallow dish is located on the lateral scapula and is the socket portion of the shoulder joint that meets to articulate the humeral head.","id":"HP:0034500","name":"Glenoid fracture","obsolete":false,"parents":["HP:0041245"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase in the width of the mediastinum, often defined as being greater than 6 to 8 cm.","id":"HP:0034501","name":"Widened mediastinum","obsolete":false,"parents":["HP:0045026"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mediastinal widening"}]} +{"alt_ids":[],"definition":"Abnormal decrease in the width of the mediastinum.","id":"HP:0034502","name":"Narrow mediastinum","obsolete":false,"parents":["HP:0045026"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Ovarian torsion is a twisting of the ligaments that support the adnexa, cutting off the blood flow to the ovary.","id":"HP:0034503","name":"Ovarian torsion","obsolete":false,"parents":["HP:0031065"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Septate gallbladder is characterized by the presence of a septum that divides the gallbladder in two chambers. When the septum dividing the gallbladder lies longitudinally it is called bilobed gallbladder and when there is a transverse septum separating the fundus from the rest of the gallbladder it is called an hour-glass gallbladder.","id":"HP:0034504","name":"Septate gallbladder","obsolete":false,"parents":["HP:0012437"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increased in the thickness of the wall of the gallbladder.","id":"HP:0034505","name":"Gallbladder wall thickening","obsolete":false,"parents":["HP:0012437"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increased in the thickness of the size of the gallbladder.","id":"HP:0034506","name":"Gallbladder enlargement","obsolete":false,"parents":["HP:0012437"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gallbladder enlarged"}]} +{"alt_ids":[],"definition":"An abnormal lesion or swelling seen on gallbladder imaging.","id":"HP:0034507","name":"Gallbladder mass","obsolete":false,"parents":["HP:0012437"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fingerprint bodies are inclusion bodies located at the periphery of the muscle fibers underneath the sarcolemma (subsarcolemmal), consisting of non-membrane-bound packed lamellae arranged in concentric patterns resembling fingerprints.","id":"HP:0034508","name":"Fingerprint bodies","obsolete":false,"parents":["HP:0004303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle biopsy: fingerprint bodies at periphery of muscle fibers"},{"scope":"EXACT","text":"Muscle biopsy: fingerprint bodies at periphery of muscle fibres"}]} +{"alt_ids":[],"definition":"An accumulation of myofilamentous material within individual muscle fibers, forming usually round but occasionally elongated bodies ranging from 2 to 15 pm in size. The so-called spheroid bodies stain green with the modified trichrome preparation and are mainly present in the periphery of type 1 muscle fibers, where they may occupy large sectors sharply demarcated from the remainder of the cross-sectioned muscle fiber.","id":"HP:0034509","name":"Spheroid bodies","obsolete":false,"parents":["HP:0004303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal activity or histological staining of an enzyme in muscle tissue, usually measured in a muscle biopsy specimen.","id":"HP:0034510","name":"Abnormal muscle tissue enzyme activity or level","obsolete":false,"parents":["HP:0011805"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Diminished activity of the enzyne aconitase in muscle tissue.","id":"HP:0034511","name":"Reduced muscle aconitase activity","obsolete":false,"parents":["HP:0034510"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle biopsy: aconitase deficiency"}]} +{"alt_ids":[],"definition":"A cancer of the ureter that most often arises in the distal third of the ureter and is often diagnosed during the sixth and seventh decades of life. The most common presentation is gross hematuria or flank pain.","id":"HP:0034512","name":"Transitional-cell carcinoma of the ureter","obsolete":false,"parents":["HP:0100516"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevation in the concentration of interferon alpha measured in the blood circulation.","id":"HP:0034513","name":"Increased circulating Interferon-alpha concentration","obsolete":false,"parents":["HP:0011116"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Interferon-alpha high in blood"}]} +{"alt_ids":[],"definition":"A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the liver.","id":"HP:0034514","name":"Liver hamartoma","obsolete":false,"parents":["HP:0002896","HP:0010566"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Ameloblastoma is a benign odontogenic tumor generally present in the jaw bone. The tumor originates from the residual epithelium of the tooth germ, epithelium of odontogenic cysts stratified squamous epithelium and epithelium of the enamel organ.","id":"HP:0034515","name":"Ameloblastoma","obsolete":false,"parents":["HP:0100612"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by following a ketogenic diet.","id":"HP:0034516","name":"Ameliorated by ketogenic diet","obsolete":false,"parents":["HP:0025254"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ketogenic diet improves symptoms"}]} +{"alt_ids":[],"definition":"Pretibial plaques occur in a specific pattern with hyperpigmentation, atrophy or induration and scarring of the lower limbs typically over the pretibial area. Hyperpigmentation appears to develop gradually from mild, brownish hyperpigmented patches clinically in keeping with haemosiderin deposition, to indurated or atrophic plaques and can progress to cover the entire circumference of the calf. Plaques are often associated with skin fragility, whether atrophic or indurated. They are thought to be a result of extensive bruising and confluent atrophic scars because of the increased fragility of dermis and small blood vessels.","id":"HP:0034517","name":"Pretibial plaque","obsolete":false,"parents":["HP:0000953"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pretibial hyperpigmentation"},{"scope":"EXACT","text":"Pretibial plaques"}]} +{"alt_ids":[],"definition":"Gums that are easily damaged.","id":"HP:0034518","name":"Gingival fragility","obsolete":false,"parents":["HP:0000168","HP:6001535"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gum fragility"}]} +{"alt_ids":[],"definition":"The presence of inclusion bodies within the cytoplasm of muscle cells that react positively with acid fuchsin.","id":"HP:0034519","name":"Muscle fiber fuchsinophilic inclusion bodies","obsolete":false,"parents":["HP:0100299"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deterioration of the cells of the myenteric plexus (also known as the Auerbach plexus) located between the layers of the muscular propria of the esophagus.","id":"HP:0034520","name":"Esophageal myenteric plexus degeneration","obsolete":false,"parents":["HP:0002031"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Scaling and overgrowth of horny tissue of the skin surrounding body orifices (including peri-auricular, peri-oral, peri-anal areas.","id":"HP:0034521","name":"Periorificial hyperkeratosis","obsolete":false,"parents":["HP:0000962"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of an elevated number of eosinophils in a lymph node (usually as demonstrated by lymph node biopsy).","id":"HP:0034522","name":"Eosinophilic lymph node infiltration","obsolete":false,"parents":["HP:0034582"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of a parasitic organism in the blood stream. Blood parasites include malaria plasmodia, microfilaria species, trypanosomes (the causative agents of African sleeping sickness and South American Changas disease) and the causative agents of schistosomiasis of the bladder and the intestine.","id":"HP:0034523","name":"Blood parasite","obsolete":false,"parents":["HP:0031863"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Parasitemia"}]} +{"alt_ids":[],"definition":"Presence of trypomastigote parasites in the blood stream. This finding can be demonstrated by the identification of trypomastigote parasites on peripheral blood smear.","id":"HP:0034524","name":"Bloodstream trypomastigotes","obsolete":false,"parents":["HP:0034523"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A primary low-grade, malignant bone tumor that is predominantly located in the mid-portion of the tibia. Histologically, classic adamantinoma is a biphasic tumor characterized by epithelial and osteofibrous components that may be intermingled with each other in various proportions and differentiating patterns.","id":"HP:0034525","name":"Adamantinoma","obsolete":false,"parents":["HP:0010622"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deviation from the normal activity of an enzyme in muscle tissue.","id":"HP:0034526","name":"Abnormal enzyme activity in muscle tissue","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced activity of phosphoglycerate kinase (PGK) in muscle tissue. PGK is a glycolytic enzyme that catalyzes one of the two ATP-producing reactions in the glycolytic pathway, through the conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate.","id":"HP:0034527","name":"Reduced muscle phosphoglycerate kinase activity","obsolete":false,"parents":["HP:0034526"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Diminished production of type III procollagen by cultured skin fibroblasts.","id":"HP:0034528","name":"Reduced fibroblast type III procollagen synthesis","obsolete":false,"parents":["HP:0011017"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Type III procollagen synthesis by fibroblasts low"}]} +{"alt_ids":[],"definition":"Diminished activity of the enzyme myoadenylate deaminase. Myoadenylate deaminase is the muscle isoform of adenosine monophosphate (AMP) deaminase and catalyzes the deamination of AMP to inosine monophosphate and ammonia.","id":"HP:0034529","name":"Reduced muscle myoadenylate deaminase activity","obsolete":false,"parents":["HP:0034526"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle biopsy: myoadenylate deaminase low"}]} +{"alt_ids":[],"definition":"A developmental defect of a long bone, such as the femur or the humerus, characterized by a sharply curve deviation located in the diaphysis (shaft) of the bone.","id":"HP:0034530","name":"Bent long bone","obsolete":false,"parents":["HP:0011314"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Angulated long bone"}]} +{"alt_ids":[],"definition":"A break or tear in the trachea.","id":"HP:0034531","name":"Tracheal rupture","obsolete":false,"parents":["HP:0002778"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Elevated amount of glycogen in the myocardium.","id":"HP:0034532","name":"Increased myocardial glycogen content","obsolete":false,"parents":["HP:0001637"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased glycogen in myocardium"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by exposure to a monoamine oxidase inhibitor.","id":"HP:0034533","name":"Triggered by monoamine oxidase inhibitor","obsolete":false,"parents":["HP:4000101"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"MAO inhibitors trigger attacks"},{"scope":"EXACT","text":"Triggered by MAO inhibitor"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by exposure to a serotonin reuptake inhibitor.","id":"HP:0034534","name":"Triggered by serotonin reuptake inhibitor","obsolete":false,"parents":["HP:4000101"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Serotonin uptake inhibitors trigger attacks"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by treatment with acetazolamide.","id":"HP:0034535","name":"Ameliorated by acetazolamide","obsolete":false,"parents":["HP:0034536"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acetazolamide relieves attacks"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by treatment with a medication. Terms in this subhierarchy are intended to be used for cases in which the fact that a manifestation of a disease responds to a specific treatment can be used in the differential diagnosis.","id":"HP:0034536","name":"Ameliorated by exposure to medication","obsolete":false,"parents":["HP:0025254"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by treatment with vitamin B12.","id":"HP:0034537","name":"Ameliorated by vitamin B12","obsolete":false,"parents":["HP:0034536"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vitamin B12 treatment produces improvement"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by treatment with thiamine.","id":"HP:0034538","name":"Ameliorated by thiamine","obsolete":false,"parents":["HP:0034536"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thiamine: positive response"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by treatment with dantrolene.","id":"HP:0034539","name":"Ameliorated by dantrolene","obsolete":false,"parents":["HP:0034536"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dantrolene reduces symptoms"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by treatment with biotin.","id":"HP:0034540","name":"Ameliorated by biotin","obsolete":false,"parents":["HP:0034536"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Biotin supplementation produces improvement"}]} +{"alt_ids":[],"definition":"Decreased in average size (diameter) of megakaryocytes in the bone marrow. Megakaryocyte diameter can be assessed as using automated cellular imaging systems.","id":"HP:0034541","name":"Reduced bone-marrow megakaryocyte size","obsolete":false,"parents":["HP:0012143"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Long narrow depressions running lengthwise in hairshafts. This feature can be appreciated by scanning electron microsopy.","id":"HP:0034542","name":"Hairshafts with longitudinal grooves","obsolete":false,"parents":["HP:0003328"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of viable mycobacteria in the blood.","id":"HP:0034543","name":"Mycobacterium bacteremia","obsolete":false,"parents":["HP:0031864"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mycobacterium present on blood culture"}]} +{"alt_ids":[],"definition":"Reduced activity of the enzyme delta-aminolevulinate dehydratase. The enzyme is active in erythrocytes.","id":"HP:0034544","name":"Decreased delta-aminolevulinate dehydratase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delta-aminolevulinate dehydratase activity low"},{"scope":"EXACT","text":"Delta-aminolevulinate dehydratase deficiency"}]} +{"alt_ids":[],"definition":"Increased activity of the enzyme pancreatic secretory trypsin inhibitor in the blood circulation.","id":"HP:0034545","name":"Elevated circulating pancreatic secretory trypsin inhibitor activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating SPINK1 activity"},{"scope":"EXACT","text":"Elevated circulating serine protease inhibitor Kazal type I"}]} +{"alt_ids":[],"definition":"A developmental anomaly in which an individual with an X chromosome and a Y chromosome (usually 46,XY) has a uterus. The uterus and Fallopian tubes are derived from the Müllerian duct and thus this phenotype is generally also associated with the presence of Fallopian tubes.","id":"HP:0034546","name":"Presence of uterus in 46,XY individual","obsolete":false,"parents":["HP:0000812"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deposition of calcium in meconium present in the internal cavity of the fetal bowel. This manifestation may be the result of any distal intestinal obstruction.","id":"HP:0034547","name":"Intraluminal meconium calcification","obsolete":false,"parents":["HP:0034207"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect characterized by underdevelopment of the portal vein.","id":"HP:0034548","name":"Portal vein hypoplasia","obsolete":false,"parents":["HP:0031941"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplasia of the portal veins"}]} +{"alt_ids":[],"definition":"Adrenal leiomyoma is a rare, benign solid tumor that develops from the smooth muscle of the adrenal vein and its tributaries","id":"HP:0034549","name":"Adrenal leiomyoma","obsolete":false,"parents":["HP:0100631"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Infiltration of the wall of the small intestine by lymphocytes and mature plasma cells.","id":"HP:0034550","name":"Small intestinal lymphoplasmacytic infiltrate","obsolete":false,"parents":["HP:0002244"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by exposure to neuroleptic (also known as antipsychotic) medication.","id":"HP:0034551","name":"Triggered by neuroleptic medication","obsolete":false,"parents":["HP:4000101"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triggered by antipsychotic medication"}]} +{"alt_ids":[],"definition":"Structural anomaly of peroxisomes, which are small, membrane-enclosed metabolic organelles with roles in the metabolism of complex lipids and reactive ionic species.","id":"HP:0034552","name":"Abnormal peroxisomal morphology","obsolete":false,"parents":["HP:0025461"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lack of observable peroxisomes. This feature can be observed by immunohistochemical staining of cultured cells (such as fibroblasts) or by electronmicroscopy.","id":"HP:0034553","name":"Absence of peroxisomes","obsolete":false,"parents":["HP:0034552"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced number of observable peroxisomes per cell. This feature can be observed by immunohistochemical staining of cultured cells (such as fibroblasts) or by electronmicroscopy.","id":"HP:0034554","name":"Paucity of peroxisomes","obsolete":false,"parents":["HP:0034552"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced activity of the enzyme sulfide:quinone oxidoreductase, which typically is measured in a biopsy specimen from liver or muscle.","id":"HP:0034555","name":"Reduced sulfide:quinone oxidoreductase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Refers to distribution of neurological deficits that corresponds to a deficit of a specific spinal segment and all segments below it.","id":"HP:0034556","name":"Deficit at segmental level","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Rhabdoid tumors are rare aggressive malignancies in infants and young children with a poor prognosis. The most common anatomic localizations are the central nervous system, the kidneys, and other soft tissues.","id":"HP:0034557","name":"Rhabdoid tumor","obsolete":false,"parents":["HP:0011792"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A highly aggressive, extremely rare neoplasm of the ovary that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers.","id":"HP:0034558","name":"Rhabdoid tumor of the ovary","obsolete":false,"parents":["HP:0034557"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A rare and aggressive neoplasms developing mainly in the kidney but also in cerebral and extra-cerebral tissues and rarely in the heart. Histologically, rhabdoid renal and extrarenal tumors share common characteristics. The cells are polygonal, with eccentric, vesicular nuclei and prominent nucleoli, eosinophilic cytoplasmic inclusions. The tumors have an infiltrative growth pattern, necrosis, and high proliferative index. The immunohistochemistry tools of investigation facilitate differential diagnosis by showing loss of INI-1 expression, usually accompanied by germline mutations of the SMARCB1 gene. When INI-1 is still expressed in the affected tissues, a rhabdoid tumor with SMARCA4 mutations should be considered.","id":"HP:0034559","name":"Cardiac rhabdoid tumor","obsolete":false,"parents":["HP:0034557"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A rhabdoid tumor (a rare aggressive malignancies in infants and young children with a poor prognosis) originating in the urinary bladder.","id":"HP:0034560","name":"Malignant rhabdoid tumor of the bladder","obsolete":false,"parents":["HP:0034557"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A malginant rhabdoid tumor (MRT) originating in the liver. MRT are best characterized by the presence of round or polygonal cells with abundant eosinophilic cytoplasm, typical eosinophilic perinuclear inclusions, vesicular nuclei and prominent nucleoli. Immunohistochemical expression of vimentin and epithelial markers and lack of staining for S-100, myoglobin and desmin are commonly found, but are non-specific.","id":"HP:0034561","name":"Malignant rhabdoid tumor of liver","obsolete":false,"parents":["HP:0034557"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A malginant rhabdoid tumor (MRT) originating in muscle tissue.","id":"HP:0034562","name":"Malignant rhabdoid tumor of muscle","obsolete":false,"parents":["HP:0034557"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A teratoma located in the neck.","id":"HP:0034563","name":"Neck teratoma","obsolete":false,"parents":["HP:0009792"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A teratoma located in a kidney.","id":"HP:0034564","name":"Kidney teratoma","obsolete":false,"parents":["HP:0009792"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:6000117"],"definition":"Increased amount of 5-amino-4-imidazolecarboxamide(AICA)-riboside in the urine. AICA-riboside is the dephosphorylated counterpart of AICAR, an intermediate of de novo purine biosynthesis.","id":"HP:0034565","name":"Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level","obsolete":false,"parents":["HP:0033161"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urinary AICA-riboside level"}]} +{"alt_ids":[],"definition":"A developmental anomnaly characterized by the lack of development of the posterior communicating artery.","id":"HP:0034566","name":"Aplasia of posterior communicating artery","obsolete":false,"parents":["HP:0031772"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of both posterior communicating arteries"}]} +{"alt_ids":[],"definition":"A developmental anomaly characterized by congenital excavation of the optic nerve head.","id":"HP:0034567","name":"Optic pit","obsolete":false,"parents":["HP:0000587"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Optic disc pit"},{"scope":"EXACT","text":"Optic nerve pit"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by treatment with naloxone, an opioid antagonist.","id":"HP:0034568","name":"Ameliorated by naloxone","obsolete":false,"parents":["HP:0034536"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by ingestion of pyridoxal phosphate (activated vitamin B6).","id":"HP:0034569","name":"Ameliorated by pyridoxal phosphate","obsolete":false,"parents":["HP:0025254"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased width of the vascular wall of portal venules within the liver.","id":"HP:0034570","name":"Thickened intrahepatic portal venules","obsolete":false,"parents":["HP:0031941"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excessive proliferation of fibroblasts and deposition of extracellular matrix within the ovary.","id":"HP:0034571","name":"Ovarian fibrosis","obsolete":false,"parents":["HP:0031065"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A process in which melanosomes (melanin granules) are deposited in the dermis. The dermal melanosomes are observed to be mainly in macrophages. This phenomenon of pigmentary incontinence usually follows an inflammatory process with the basic feature of basal cell damage, such as in lichen planus, lupus erythematosus, Riehl's melanosis, incontinentia pigmenti (Bloch-Sulzberger), and fixed drug eruption. Incontinence of pigment, or dropping off of epidermal melanin into the dermis, frequently produces a clinically recognizable and characteristic slate-gray pigmentation.","id":"HP:0034572","name":"Pigment incontinence","obsolete":false,"parents":["HP:0001000"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pigmentary incontinence in papillary dermis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0034573","name":"Abnormal epidermal protein expression","obsolete":false,"parents":["HP:0011124"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Amount of keratin 10 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.","id":"HP:0034574","name":"Reduced epidermal keratin 10 protein expression","obsolete":false,"parents":["HP:0035004"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0034575","name":"Reduced epidermal collagen IV protein expression","obsolete":false,"parents":["HP:0034573"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Skin biopsy: collagen IV antibody staining abnormal or absent"}]} +{"alt_ids":[],"definition":"Lower than normal amount of bullous pemphigoid antigen 1 (BP230) in the epidermis.","id":"HP:0034576","name":"Reduced epidermal bullous pemphigoid antigen 1 protein expression","obsolete":false,"parents":["HP:0034573"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Skin biopsy: BPAG1-e antibody staining abnormal or absent"}]} +{"alt_ids":[],"definition":null,"id":"HP:0034577","name":"Reduced epidermal collagen VII protein expression","obsolete":false,"parents":["HP:0034573"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Skin biopsy: collagen VII antibody staining abnormal or absent"}]} +{"alt_ids":[],"definition":null,"id":"HP:0034578","name":"Reduced epidermal collagen XVII protein expression","obsolete":false,"parents":["HP:0034573"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Skin biopsy: collagen XVII antibody staining abnormal or absent"}]} +{"alt_ids":[],"definition":null,"id":"HP:0034579","name":"Reduced epidermal integrin alpha6beta4 protein expression","obsolete":false,"parents":["HP:0034573"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Skin biopsy: integrin alpha6beta4 antibody staining abnormal or absent"}]} +{"alt_ids":[],"definition":null,"id":"HP:0034580","name":"Reduced epidermal plectin protein expression","obsolete":false,"parents":["HP:0034573"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Skin biopsy: plectin antibody staining abnormal or absent"}]} +{"alt_ids":[],"definition":"Presence of Trypanosoma cruzi in the blood stream. Trypanosoma cruzii is the etiological agent of Chagas disease.","id":"HP:0034581","name":"Bloodstream Trypanosoma cruzi","obsolete":false,"parents":["HP:0034523"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Trypanosoma cruzi present on peripheral blood smear"}]} +{"alt_ids":[],"definition":"A deviation from the normal distribution of cell types or their relative proportions in a lymph node.","id":"HP:0034582","name":"Abnormal lymph node cell composition","obsolete":false,"parents":["HP:0002733"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lymph node with increased numbers of macrophages heavily laden with lipids.","id":"HP:0034583","name":"Lipid-laden lymph node macrophages","obsolete":false,"parents":["HP:0034582"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Structural anomal of pancreatic acinus.","id":"HP:0034584","name":"Abnormal pancreatic acinus morphology","obsolete":false,"parents":["HP:0012090"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect characterized by underdevelopment of the cochlear nerve.","id":"HP:0034585","name":"Cochlear nerve hypoplasia","obsolete":false,"parents":["HP:0011396"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Level of glutathione in the urine above the upper limit of normal.","id":"HP:0034586","name":"Glutathionuria","obsolete":false,"parents":["HP:0033098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Glutathione high in urine"}]} +{"alt_ids":[],"definition":"Nevus psiloliparus is a rare fatty tissue nevus that is a marker for encephalocraniocutaneous lipomatosis, a neurocutaneous syndrome with ocular and central nervous system anomalies. Clinically, nevus psiloliparus is often described as a congenital alopecia and appears as an irregularly shaped, circumscribed area of alopecia on the scalp. Histopathology demonstrates a near-complete absence of mature hair follicles with preservation of arrector pili muscles and mature adipocytes within the dermis.","id":"HP:0034587","name":"Nevus psiloliparus","obsolete":false,"parents":["HP:0003764"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Crypt hyperplasia denotes elongation of the length of the crypts of Lieberkuhn, a process that initially precedes villous atrophy. Elongation may be caused by expansion of the lamina propria as a result of the proliferation of stromal cells, an influx of inflammatory cells and tissue remodeling.","id":"HP:0034588","name":"Crypt hyperplasia","obsolete":false,"parents":["HP:0025129"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of dehydroepiandrosterone-sulfate in the blood circulation above the upper limit of normal.","id":"HP:0034589","name":"Increased circulating dehydroepiandrosterone-sulfate concentration","obsolete":false,"parents":["HP:0500022"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of thyroxine-binding globulin in the blood circulation.","id":"HP:0034590","name":"Abnormal circulating thyroxine-binding globulin concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal thyroxine-binding globulin level"}]} +{"alt_ids":["HP:0012509"],"definition":"The concentration of thyroxine-binding globulin in the blood circulation is below the lower limit of normal.","id":"HP:0034591","name":"Decreased circulating thyroxine-binding globulin concentration","obsolete":false,"parents":["HP:0034590"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased thyroxine-binding globulin concentration"},{"scope":"EXACT","text":"Decreased thyroxine-binding globulin level"},{"scope":"EXACT","text":"Decreased thyroxine-binding globulin level in blood"},{"scope":"EXACT","text":"Reduced thyroxin-binding globulin"},{"scope":"EXACT","text":"Reduced thyroxine-binding globulin concentration"},{"scope":"EXACT","text":"Reduced thyroxine-binding globulin level"},{"scope":"EXACT","text":"Reduced thyroxine-binding globulin level in blood"},{"scope":"EXACT","text":"Thyroxine-binding globulin low in blood"}]} +{"alt_ids":[],"definition":"An increased concentration of beta-aminoisobutyric acid in the blood circulation.","id":"HP:0034592","name":"Elevated circulating beta-aminoisobutyric acid concentration","obsolete":false,"parents":["HP:0033109"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Beta-aminoisobutyric acid high in blood"}]} +{"alt_ids":[],"definition":"An increased concentration of dihydrouracil in the blood circulation. Dihydrouracil is an intermediate in the catabolism of uracil that is also known as 5,6-dihydrouracil.","id":"HP:0034593","name":"Elevated circulating dihydrouracil concentration","obsolete":false,"parents":["HP:0004353"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dihydrouracil high in blood"},{"scope":"EXACT","text":"Elevated circulating 5,6-dihydrouracil concentration"}]} +{"alt_ids":[],"definition":"An increased concentration of dihydrothymine in the blood circulation. Dihydrouracil is an intermediate in the catabolism of thymine.","id":"HP:0034594","name":"Elevated circulating dihydrothymine concentration","obsolete":false,"parents":["HP:0004353"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dihydrothymine high in blood"}]} +{"alt_ids":[],"definition":"An increased concentrationof N-carbamoyl-beta-alanine in the blood circulation.","id":"HP:0034595","name":"Elevated circulating N-carbamoyl-beta-alanine concentration","obsolete":false,"parents":["HP:0033109"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"N-carbamoyl-beta-alanine acid high in blood"}]} +{"alt_ids":[],"definition":"An increased concentration of 5-hydroxymethyluracil in the blood circulation.","id":"HP:0034596","name":"Elevated ciculating 5-hydroxymethyluracil concentration","obsolete":false,"parents":["HP:0004353"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"5-hydroxymethyluracil high in blood"}]} +{"alt_ids":[],"definition":"Concentration of creatinine in the cerebrrospinal fluid below the lower limit of normal.","id":"HP:0034597","name":"Decreased CSF creatinine concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased amount of creatine in the urine.","id":"HP:0034598","name":"Elevated urinary creatine level","obsolete":false,"parents":["HP:6000531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Creatine high in urine"}]} +{"alt_ids":[],"definition":"Concentration of biotin in the blood circulation below the lower limit of normal.","id":"HP:0034599","name":"Decreased circulating biotin concentration","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Biotin low in blood"}]} +{"alt_ids":[],"definition":"Concentration of thrombopoietin in the blood circulation above the upper limit of normal. Thrombopoietin is a glycoprotein hormone produced by the liver and kidney that stimulates the production and differentiation of megakaryocytes.","id":"HP:0034600","name":"Elevated circulating thrombopoietin concentration","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thrombopoietin high in blood"}]} +{"alt_ids":[],"definition":"Concentration or activity of the C1q protein in the blood circulation below the lower limit of normal. C1q is the first component of the classical pathway and is composed of the C1qA chain, C1qB chain, and C1qC chain, which are encoded by C1qA, C1qB, and C1qC genes.","id":"HP:0034601","name":"Decreased circulating C1q concentration","obsolete":false,"parents":["HP:0004431"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of apolipoprotein A-II in the blood circulation is below the lower limit of normal.","id":"HP:0034602","name":"Decreased circulating apolipoprotein A-II concentration","obsolete":false,"parents":["HP:0033459"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Apolipoprotein A-II low in blood"},{"scope":"EXACT","text":"Decreased apolipoprotein A-II concentration"},{"scope":"EXACT","text":"Decreased apolipoprotein A-II level"},{"scope":"EXACT","text":"Decreased apolipoprotein A-II level in blood"},{"scope":"EXACT","text":"Reduced apolipoprotein A-II concentration"},{"scope":"EXACT","text":"Reduced apolipoprotein A-II level"},{"scope":"EXACT","text":"Reduced apolipoprotein A-II level in blood"}]} +{"alt_ids":[],"definition":null,"id":"HP:0034603","name":"obsolete Elevated circulating CA19-9 concentration","obsolete":true,"parents":[],"replaced_by":["HP:0032345"],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of DOPA (3,4-dihydroxyphenylalanine) in the blood circulation above the upper limit of normal.","id":"HP:0034604","name":"Elevated circulating DOPA concentration","obsolete":false,"parents":["HP:0010996"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"DOPA high in blood"},{"scope":"EXACT","text":"Elevated circulating 3,4-dihydroxyphenylalanine concentration"}]} +{"alt_ids":[],"definition":"Concentration of DOPA (3,4-dihydroxyphenylalanine) in the cerebrospinal fluid above the upper limit of normal.","id":"HP:0034605","name":"Elevated CSF DOPA concentration","obsolete":false,"parents":["HP:0500183"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated CSF 3,4-dihydroxyphenylalanine concentration"}]} +{"alt_ids":[],"definition":"The concentration of porphyrins in the blood circulation is above the upper limit of normal.","id":"HP:0034606","name":"Elevated circulating porphyrin concentration","obsolete":false,"parents":["HP:0010472"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated porphyrins concentration"},{"scope":"EXACT","text":"Elevated porphyrins level"},{"scope":"EXACT","text":"Elevated porphyrins level in blood"},{"scope":"EXACT","text":"Increased porphyrins concentration"},{"scope":"EXACT","text":"Increased porphyrins level"},{"scope":"EXACT","text":"Increased porphyrins level in blood"},{"scope":"EXACT","text":"Porphyrin high in blood"}]} +{"alt_ids":[],"definition":"Concentration of 17-hydroxyprogesterone in the blood circulation below the lower limit of normal.","id":"HP:0034607","name":"Decreased circulating 17-hydroxyprogesterone concentration","obsolete":false,"parents":["HP:0008233"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of transcobalamin-2 in the blood circulation is below the lower limit of normal.","id":"HP:0034608","name":"Decreased circulating transcobalamin-2 concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased transcobalamin-2 concentration"},{"scope":"EXACT","text":"Decreased transcobalamin-2 level"},{"scope":"EXACT","text":"Decreased transcobalamin-2 level in blood"},{"scope":"EXACT","text":"Reduced transcobalamin-2 concentration"},{"scope":"EXACT","text":"Reduced transcobalamin-2 level"},{"scope":"EXACT","text":"Reduced transcobalamin-2 level in blood"},{"scope":"EXACT","text":"Transcobalamin II low in blood"}]} +{"alt_ids":[],"definition":"Increased variation in the color of the erythrocytes (red blood cells), including pale red, normal or dark colors, indicating a highly variable hemoglobin concentration. Typically this indicates the release of immature erythrocytes in states of anemia.","id":"HP:0034609","name":"Polychromasia","obsolete":false,"parents":["HP:0004312"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Polychromasia on peripheral blood smear"}]} +{"alt_ids":[],"definition":"Concentration of myo-inositol in the blood circulation below the lower limit of normal.","id":"HP:0034610","name":"Decreased circulating myo-inositol concentration","obsolete":false,"parents":["HP:0020349"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Myoinositol low in blood"}]} +{"alt_ids":[],"definition":"Concentration of arabinitol in the blood circulation above the upper limit of normal.","id":"HP:0034611","name":"Elevated circulating arabinitol concentration","obsolete":false,"parents":["HP:0020349"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating D-arabinitol concentration"}]} +{"alt_ids":[],"definition":"Amount of arabitol in the urine above the upper limit of normal.","id":"HP:0034612","name":"Elevated urine arabitol level","obsolete":false,"parents":["HP:0031979"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Arabitol high in urine"}]} +{"alt_ids":[],"definition":"Amount of erythritol in the urine above the upper limit of normal.","id":"HP:0034613","name":"Elevated urine erythritol level","obsolete":false,"parents":["HP:0031979"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Erythritol high in urine"}]} +{"alt_ids":[],"definition":"Concentration of erythritol in the blood circulation above the upper limit of normal.","id":"HP:0034614","name":"Elevated circulating erythritol concentration","obsolete":false,"parents":["HP:0020349"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Erythritol high in blood"}]} +{"alt_ids":[],"definition":"The concentration of matrix metalloproteinase 2 in the blood circulation is below the lower limit of normal.","id":"HP:0034615","name":"Decreased circulating matrix metalloproteinase 2 concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased 72 kDa type IV collagenase concentration"},{"scope":"EXACT","text":"Decreased 72 kDa type IV collagenase level"},{"scope":"EXACT","text":"Decreased 72 kDa type IV collagenase level in blood"},{"scope":"EXACT","text":"Reduced 72 kDa type IV collagenase concentration"},{"scope":"EXACT","text":"Reduced 72 kDa type IV collagenase level"},{"scope":"EXACT","text":"Reduced 72 kDa type IV collagenase level in blood"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of coenzyme in the blood circulation.","id":"HP:0034616","name":"Abnormal circulating coenzyme concentration","obsolete":false,"parents":["HP:0430071"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal coenzyme level"}]} +{"alt_ids":[],"definition":"Concentration of S-adenosyl methionine (SAM) in the blood circulation above the upper limit of normal. SAM is a cosubstrate involved in methyl group transfers, transsulfuration, and aminopropylation.","id":"HP:0034617","name":"Elevated circulating S-adenosyl methionine concentration","obsolete":false,"parents":["HP:0034616"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"S-adenosylmethionine high in blood"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of membrane cofactor protein in the blood circulation.","id":"HP:0034618","name":"Abnormal circulating membrane cofactor protein concentration","obsolete":false,"parents":["HP:0010876","HP:0032213"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal membrane cofactor protein level"}]} +{"alt_ids":[],"definition":"The concentration of membrane cofactor protein in the blood circulation is below the lower limit of normal.","id":"HP:0034619","name":"Decreased circulating membrane cofactor protein concentration","obsolete":false,"parents":["HP:0034618"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating CD46 concentration"},{"scope":"EXACT","text":"Decreased membrane cofactor protein concentration"},{"scope":"EXACT","text":"Decreased membrane cofactor protein level"},{"scope":"EXACT","text":"Decreased membrane cofactor protein level in blood"},{"scope":"EXACT","text":"MCP (membrane cofactor protein) low in blood"},{"scope":"EXACT","text":"Reduced membrane cofactor protein concentration"},{"scope":"EXACT","text":"Reduced membrane cofactor protein level"},{"scope":"EXACT","text":"Reduced membrane cofactor protein level in blood"}]} +{"alt_ids":[],"definition":"The concentration of membrane cofactor protein in the blood circulation is above the upper limit of normal.","id":"HP:0034620","name":"Elevated circulating membrane cofactor protein concentration","obsolete":false,"parents":["HP:0034618"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating CD46 concentration"},{"scope":"EXACT","text":"Elevated membrane cofactor protein concentration"},{"scope":"EXACT","text":"Elevated membrane cofactor protein level"},{"scope":"EXACT","text":"Elevated membrane cofactor protein level in blood"},{"scope":"EXACT","text":"Increased membrane cofactor protein concentration"},{"scope":"EXACT","text":"Increased membrane cofactor protein level"},{"scope":"EXACT","text":"Increased membrane cofactor protein level in blood"}]} +{"alt_ids":[],"definition":"Lipid deposits localized within the liver. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.","id":"HP:0034621","name":"Hepatic xanthomatosis","obsolete":false,"parents":["HP:0410042"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hepatic xanthomas"}]} +{"alt_ids":[],"definition":"Lipid deposits localized within the adrenal gland. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.","id":"HP:0034622","name":"Adrenal xanthomatosis","obsolete":false,"parents":["HP:0011732"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Adrenal xanthomas"}]} +{"alt_ids":[],"definition":"Lipid deposits localized within the spleen. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.","id":"HP:0034623","name":"Splenic xanthomatosis","obsolete":false,"parents":["HP:0025408"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spleen xanthomas"}]} +{"alt_ids":[],"definition":"Lipid deposits localized within the spinal cord. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.","id":"HP:0034624","name":"Spinal cord xanthomatosis","obsolete":false,"parents":["HP:0002143"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spinal cord xanthomas"}]} +{"alt_ids":[],"definition":"Lipid deposits localized within the brain. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.","id":"HP:0034625","name":"Brain xanthomatosis","obsolete":false,"parents":["HP:0012443"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Brain xanthomas"},{"scope":"EXACT","text":"Brain xanthomata"}]} +{"alt_ids":[],"definition":"Lipid deposits localized within the lung. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.","id":"HP:0034626","name":"Pulmonary xanthomatosis","obsolete":false,"parents":["HP:0002088"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lung xanthoma"},{"scope":"EXACT","text":"Pulmonary xanthoma"}]} +{"alt_ids":[],"definition":"Lipid deposits localized within the bone marrow. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.","id":"HP:0034627","name":"Bone marrow xanthomatosis","obsolete":false,"parents":["HP:0005561"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bone marrow xanthomas"}]} +{"alt_ids":[],"definition":"Lipid deposits localized within one or more lymph nodes. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.","id":"HP:0034628","name":"Lymph node xanthomatosis","obsolete":false,"parents":["HP:0002733"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lymph node xanthomas"}]} +{"alt_ids":[],"definition":"Xanthoma of bone is an exceedingly rare benign primary bone tumor histologically characterized by mononuclear macrophage-like cells, abundant foam cells, and multinucleated giant cells.","id":"HP:0034629","name":"Xanthoma of bone","obsolete":false,"parents":["HP:0011842"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bone xanthoma"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by treatment with folinic acid.","id":"HP:0034630","name":"Ameliorated by folinic acid","obsolete":false,"parents":["HP:0034536"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ameliorated by leucovorin"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by exposure to a succinylcholine anesthetic such as suxamethonium.","id":"HP:0034631","name":"Triggered by succinylcholine anesthetic","obsolete":false,"parents":["HP:4000101"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Triggered by suxamethonium"}]} +{"alt_ids":[],"definition":"History of having been treated with an exogenous androgen medication.","id":"HP:0034632","name":"Exogenous androgen exposure","obsolete":false,"parents":["HP:4000112"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Androgen exposure, exogenous"}]} +{"alt_ids":[],"definition":"Diminished activity of the enzyme enolase in muscle tissue. The enzyme enolase catalyzes the interconversion of 2-phosphoglycerate and phosphoenolpyruvate. In adult human muscle, over 90% of enolase activity is accounted for by the beta-enolase subunit, the protein product of the ENO3 gene.","id":"HP:0034633","name":"Reduced muscle enolase activity","obsolete":false,"parents":["HP:0034526"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle biopsy: beta-enolase activity low"}]} +{"alt_ids":[],"definition":"History of having been treated with a dopamine antagonist including metaclopramide, phenothiazine; haloperidol, chlorpromazine, promethazine, prochlorperazine, ziprasidone, and quetiapine.","id":"HP:0034634","name":"Dopamine antagonist exposure","obsolete":false,"parents":["HP:4000112"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dopamine antagonist treatment history"}]} +{"alt_ids":[],"definition":"The presence of inclusion bodies within the cytoplasm of muscle cells that contain a mxiture of granules and filaments.","id":"HP:0034635","name":"Muscle fiber granulofilamentous inclusion bodies","obsolete":false,"parents":["HP:0100299"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of myeloid precursors in the bone marrow.","id":"HP:0034636","name":"Bone marrow myeloid vacuolization","obsolete":false,"parents":["HP:0012130"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bone marrow: myeloid vacuolization"},{"scope":"EXACT","text":"Vacuolization of bone marrow myeloid precursors"}]} +{"alt_ids":[],"definition":"A cylindroma located in the lung. Cylindromas are well-circumscribed, smooth, pale pink nodular tumors, often with arborizing vessels visible. The tumors are slow growing and vary in size from a few millimeters to over 5 mm.","id":"HP:0034637","name":"Pulmonary cylindroma","obsolete":false,"parents":["HP:0100526"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fluid visible on the colonic surface containing fibrin, inflammatory cells, and cellular debris.","id":"HP:0034638","name":"Colonic fibrinopurulent exudate","obsolete":false,"parents":["HP:0002250"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of filaria in the blood stream. Filariasis is a common cause of elephantiasis in Coastal Districts of India. The initial manifestations are repeated episodes of fever with chills and rigor, lymphadenopathy which gradually progress to elephantiasis. In India filarial infestation is commonly caused by W. bancrofti and Brugia malayi, the former responsible for almost 98 percent of all cases.","id":"HP:0034639","name":"Bloodstream microfilaria","obsolete":false,"parents":["HP:0034523"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of an infectious agent in the skin.","id":"HP:0034640","name":"Skin infectious agent","obsolete":false,"parents":["HP:0011121"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of filariae in the skin.","id":"HP:0034641","name":"Dermal microfilaria","obsolete":false,"parents":["HP:0034640"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dermal microfilariae"}]} +{"alt_ids":[],"definition":"Accumulation of immunoglobulin A (IgA) surrounding dermal papillae, which are specialized cells that support the hair follicle.","id":"HP:0034642","name":"Dermal papillary IgA deposition","obsolete":false,"parents":["HP:0011124"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Granular IgA deposits at the dermal papillae"}]} +{"alt_ids":[],"definition":"Accumulation of antigen-bound antibody in the skin.","id":"HP:0034643","name":"Dermal immune complex deposition","obsolete":false,"parents":["HP:0011121"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of a metabolite in the liver is above or below the limits of normal.","id":"HP:0034644","name":"Abnormal liver metabolite concentration","obsolete":false,"parents":["HP:0032243","HP:0410042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Intracellular accumulation of polyglucosan bodies-containing amylopectinlike polysaccharide-in the liver.","id":"HP:0034645","name":"Hepatic polyglucosan accumulation","obsolete":false,"parents":["HP:0031137"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Accumulation of polyglucosan bodies in the liver"}]} +{"alt_ids":[],"definition":"A neurofibroma (benign peripheral nerve sheath tumor) located in the urinary bladder.","id":"HP:0034646","name":"Urinary bladder neurofibroma","obsolete":false,"parents":["HP:0009725"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bladder neurofibroma"}]} +{"alt_ids":[],"definition":"An aggregation of macrophages (forming in response to chronic inflammation) localized in the lining of a joint (synovium).","id":"HP:0034647","name":"Synovial granuloma","obsolete":false,"parents":["HP:0005262"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of fumaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0034648","name":"Elevated urine fumaric acid level","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urine fumarate level"}]} +{"alt_ids":["HP:0032272"],"definition":"The amount of N-acetylaspartate in the urine, when corrected for urine concentration, is above upper limit of normal. This feature can be measured using gas chromatography-mass spectrometry.","id":"HP:0034649","name":"Elevated urine N-acetylaspartic acid level","obsolete":false,"parents":["HP:0033098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urinary N-acetylaspartic acid level"},{"scope":"EXACT","text":"N-acetylaspartate high in urine"}]} +{"alt_ids":[],"definition":"Level of suberylglycine in urine above upper limit of normal.","id":"HP:0034650","name":"Elevated urine suberylglycine level","obsolete":false,"parents":["HP:0031980"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Suberylglycine high in urine"}]} +{"alt_ids":[],"definition":"Level of phenylpropionylglycine in urine above upper limit of normal.","id":"HP:0034651","name":"Elevated urine phenylpropionylglycine level","obsolete":false,"parents":["HP:0031980"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Phenylpropionylglycine present in urine"}]} +{"alt_ids":[],"definition":"The concentration of octenedioic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0034652","name":"Elevated urine octenedioic acid level","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Octenedioic acid high in urine"}]} +{"alt_ids":[],"definition":"Level of a monocarboxylic acid in the urine above the upper limit of normal. A monocarboxylic acid is an oxoacid containing one carboxy group.","id":"HP:0034653","name":"obsolete Monocarboxylic aciduria","obsolete":true,"parents":[],"replaced_by":["HP:0033303"],"synonyms":[]} +{"alt_ids":[],"definition":"Amount of octanoic acid in the urine above the upper limit of normal.","id":"HP:0034654","name":"Elevated urine octanoic acid level","obsolete":false,"parents":["HP:0033303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of glutaconic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0034655","name":"Elevated urine glutaconic acid level","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of 3-hydroxyglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0034656","name":"Elevated urine 3-hydroxyglutaric level","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"3-hydroxyglutaric acid high in urine"}]} +{"alt_ids":[],"definition":"The concentration of malonic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0034657","name":"Elevated urine malonic acid level","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Malonic acid present in urine"}]} +{"alt_ids":[],"definition":"Amount of propionylglycine in the urine above the upper limit of normal.","id":"HP:0034658","name":"Elevated urine propionylglycine level","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Amount of tiglylglycine in the urine above upper limit of normal.","id":"HP:0034659","name":"Elevated urine tiglylglycine level","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Amount of 2-methylacetoacetic acid in the urine above upper limit of normal.","id":"HP:0034660","name":"Elevated urine 2-methylacetoacetic acid level","obsolete":false,"parents":["HP:0033303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"2-methylacetoacetic acid present in urine"}]} +{"alt_ids":[],"definition":"Amount of 3-hydroxypropionic acid in the urine above the upper limit of normal.","id":"HP:0034661","name":"Elevated urine 3-hydroxypropionic acid level","obsolete":false,"parents":["HP:0033303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"3-hydroxypropionic acid high in urine"}]} +{"alt_ids":[],"definition":"Amount of 2-methylcitric acid in the urine above the upper limit of normal.","id":"HP:0034662","name":"Elevated urine 2-methylcitric acid level","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"2-methylcitric acid high in urine"},{"scope":"EXACT","text":"Elevated urine 2-methylcitrate level"}]} +{"alt_ids":[],"definition":"Amount of 4-hydroxyisovaleric acid in urine above upper limit of normal.","id":"HP:0034663","name":"Elevated urine 4-hydroxyisovaleric acid level","obsolete":false,"parents":["HP:0033303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"4-hydroxyisovaleric acid present in urine"}]} +{"alt_ids":[],"definition":"Amount of 2-hydroxy-3-methylvaleric acid in the urine above the upper limit of normal. 2-Hydroxy-3-methylpentanoic acid or 2-hydroxy-3-methylvaleric acid (HMVA) is an organic acid generated by L-isoleucine metabolism.","id":"HP:0034664","name":"Elevated urine 2-hydroxy-3-methylvaleric acid level","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"2-hydroxy-3-methylvaleric acid high in urine"}]} +{"alt_ids":[],"definition":"Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the shoulder joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.","id":"HP:0034665","name":"Shoulder contracture","obsolete":false,"parents":["HP:0003043","HP:0100360"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lack of the full expected passive range of flexion of the shoulder joint (Shoulder flexion puts the arms from a resting position at one's sides to straight above the head; thus, with shoulder extension contracture it is not possible to raise the arms above the head fully).","id":"HP:0034666","name":"Shoulder extension contracture","obsolete":false,"parents":["HP:0034665"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Movement in the sagittal plane that increases the angle of the thumb joint (straightens the joint); motion involving posterior bending of the vertebral column or returning to the upright position from a flexed position.","id":"HP:0034667","name":"Thumb extension contracture","obsolete":false,"parents":["HP:0009600"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A myxoma (benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation) localized in the tongue.","id":"HP:0034668","name":"Tongue myxoma","obsolete":false,"parents":["HP:0030809"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0041064"],"definition":"A structural abnormality of the knee joint or surrounding structures.","id":"HP:0034669","name":"Abnormal knee morphology","obsolete":false,"parents":["HP:0002815"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional anomaly of the knee joint.","id":"HP:0034670","name":"Abnormal knee physiology","obsolete":false,"parents":["HP:0002815"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the knee joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.","id":"HP:0034671","name":"Knee contracture","obsolete":false,"parents":["HP:0034669"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Contracture of knee"},{"scope":"EXACT","text":"Contracture of the knees"},{"scope":"EXACT","text":"Knee contractures"}]} +{"alt_ids":[],"definition":"A type of knee joint contracture in which the knee lacks full expected flexion, such that the upper and lower leg cannot be brought together.","id":"HP:0034672","name":"Knee extension contracture","obsolete":false,"parents":["HP:0034671"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the ankle.","id":"HP:0034673","name":"Abnormal ankle morphology","obsolete":false,"parents":["HP:0003028"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional anomaly of the ankle.","id":"HP:0034674","name":"Abnormal ankle physiology","obsolete":false,"parents":["HP:0003028"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a toe joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.","id":"HP:0034675","name":"Toe joint contracture","obsolete":false,"parents":["HP:0001780"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of toe joint contracture in which the joint lacks full expected flexion, so that the two bony segments on either side of their connecting joint cannot be brought together.","id":"HP:0034676","name":"Extension contracture of toe","obsolete":false,"parents":["HP:0034675"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0034677","name":"Ankle contracture","obsolete":false,"parents":["HP:0008366","HP:0034673"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0034678","name":"Forefoot pronation contracture","obsolete":false,"parents":["HP:0034677"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0034679","name":"Forefoot supination contracture","obsolete":false,"parents":["HP:0034677"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0034680","name":"Forefoot adduction contracture","obsolete":false,"parents":["HP:0034677"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a finger joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.","id":"HP:0034681","name":"Finger joint contracture","obsolete":false,"parents":["HP:0001167","HP:0009473"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of finger joint contracture in which the joint lacks full expected flexion, so that the two bony segments on either side of their connecting joint cannot be brought together.","id":"HP:0034682","name":"Extension contracture of finger","obsolete":false,"parents":["HP:0034681"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Amount of telethonin protein expression in muscle tissue below lower limit of normal. Telethonin is a 19-kDa sarcomeric protein, localized to the Z-disc of skeletal and cardiac muscles.","id":"HP:0034683","name":"Reduced muscle telethonin level","obsolete":false,"parents":["HP:0030089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle biopsy: telethonin low or absent"}]} +{"alt_ids":[],"definition":"Concentration or activity of an enzyme is above or below the limits of normal.","id":"HP:0034684","name":"Abnormal enzyme concentration or activity","obsolete":false,"parents":["HP:0001939"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of an enzyme is above or below the limits of normal in liver tissue.","id":"HP:0034685","name":"Abnormal liver enzyme activity or concentration","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal hepatic enzyme activity or concentration"}]} +{"alt_ids":[],"definition":"Activity of urocanase in the liver below the lower limit of normal.","id":"HP:0034686","name":"Reduced hepatic urocanase activity","obsolete":false,"parents":["HP:0034685"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Liver biopsy: urocanase activity low"}]} +{"alt_ids":[],"definition":"Reduced hydrolysis (splitting of a bond and the addition of the hydrogen anion of water) of the sulfuric ester linkage in the molecule of cerebroside sulfate, possibly leading to accumuation of cerebroside sulfate.","id":"HP:0034687","name":"Impaired cerebroside sulfate hydrolysis","obsolete":false,"parents":["HP:0011017"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Diminished enzyme activity of peroxisomal glutaryl-CoA oxidase, an enzyme that metabolizes glutaryl-CoA (a metabolite of L-lysine, L-hydroxy-lysine and L-tryptophan) by dehydrogenation to glutaconyl-CoA directly followed by decarboxylation of this to crotonyl-CoA.","id":"HP:0034688","name":"Reduced peroxisomal glutaryl-CoA oxidase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Diminished activity of the enzyme sterol 27-hydroxylase, which participates in the degradation of cholesterol to bile acid. Sterol 27-hydroxylase catalyzes the first step in the normal oxidation of the steroid side chain, converting cholesterol, as well as different 7a-hydroxylated cholesterol metabolites, to 27-oxygenated steroids.","id":"HP:0034689","name":"Reduced sterol 27-hydroxylase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Diminished activity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyzes the first step in mitochondrial beta-oxidation of fatty acids.","id":"HP:0034690","name":"Reduced short-chain acyl-CoA dehydrogenase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Diminished activity of the enzyme 3-phosphoglycerate dehydrogenase (PGDH), which catalyzes the first step in the pathway by converting D-3-phosphoglycerate (PGA), an intermediate in glycolysis, to phosphohydroxypyruvate concomitant with the reduction of NAD+.","id":"HP:0034691","name":"Reduced 3-phosphoglycerate dehydrogenase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increase in length of mitochondria.","id":"HP:0034692","name":"Elongated mitochondria","obsolete":false,"parents":["HP:0012087"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of methionine adenosyltransferase in the liver below the lower limit of normal. Note that there are multiple methionine adenosyltransferase isoezymes.","id":"HP:0034693","name":"Reduced hepatic methionine adenosyltransferase activity","obsolete":false,"parents":["HP:0034685"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Degeneration and loss of neurons in the substantia nigra of the brain.","id":"HP:0034694","name":"Substantia nigra dopaminergic neuron loss","obsolete":false,"parents":["HP:0045007"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Melanin reduced in substantia nigra"}]} +{"alt_ids":[],"definition":"A lipoma that is located within a muscle.","id":"HP:0034696","name":"Intramuscular lipoma","obsolete":false,"parents":["HP:0012032","HP:0031460"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Dilated blood vessels on the skin.","id":"HP:0034697","name":"Cutaneous telangiectasia","obsolete":false,"parents":["HP:0001009"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Aromatase activity outside of the normal range.","id":"HP:0034698","name":"Abnormal aromatase activity","obsolete":false,"parents":["HP:0034684"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Enzyme activity of aromatase above the upper limit of normal.","id":"HP:0034699","name":"Elevated aromatase activity","obsolete":false,"parents":["HP:0034698"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Enzyme activity of aromatase below the lower limit of normal.","id":"HP:0034700","name":"Reduced aromatase activity","obsolete":false,"parents":["HP:0034698"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of amyloidosis that is located in the cornea.","id":"HP:0034701","name":"Corneal amyloidosis","obsolete":false,"parents":["HP:0020015"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the keratinocyte. The keratinocyte is the major cell type of the epidermis and is responsible for generating the protective barrier.","id":"HP:0034702","name":"Abnormal keratinocyte morphology","obsolete":false,"parents":["HP:0011124"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased number of vacuoles (membrane-bound organelles that areempty of cytoplasm, lined with a membrane, and filled with fluid) in keratinocytes.","id":"HP:0034703","name":"Keratinocyte vacuolization","obsolete":false,"parents":["HP:0034702"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Keratinocyte vacuolation"},{"scope":"EXACT","text":"Vacuolated keratinocytes"}]} +{"alt_ids":[],"definition":"An adenocarcinoma that arises from the parotid gland.","id":"HP:0034704","name":"Parotid gland adenocarcinoma","obsolete":false,"parents":["HP:0012288"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cellular inflammation, vessel destruction, and tissue necrosis of the blood vessels of the lung.","id":"HP:0034705","name":"Pulmonary vasculitis","obsolete":false,"parents":["HP:0034784"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lung biopsy: vasculitis"}]} +{"alt_ids":[],"definition":"Activity of D-glycerate kinase in the liver below the lower limit of normal.","id":"HP:0034706","name":"Reduced hepatic D-glycerate kinase activity","obsolete":false,"parents":["HP:0034685"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages in a lymph node.","id":"HP:0034707","name":"Lymph-node hemophagocytosis","obsolete":false,"parents":["HP:0012156"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of the upper branch of the pubis bone (inferior pubic ramus).","id":"HP:0034708","name":"Superior pubic ramus hypoplasia","obsolete":false,"parents":["HP:0008830"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A rare benign mullerian mixed tumor of the uterus composed of benign epithelial and mesenchymal components.","id":"HP:0034709","name":"Uterine adenofibroma","obsolete":false,"parents":["HP:0010784"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign malformation of the lung that includes an abnormal mixture of tissue components such as cartilage, epithelium, fat, or muscle which are common to the lung but without preservation of the organ architecture.","id":"HP:0034710","name":"Pulmonary hamartoma","obsolete":false,"parents":["HP:0010566","HP:0100526"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal histological finding characterized by an increase in the cross-section area of peripheral nerve axons (up to 20-25 micrometers in diameter).","id":"HP:0034711","name":"Peripheral axonal distension","obsolete":false,"parents":["HP:0000759"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of alpha mannosidase below the lower limit of normal in the blood circulation.","id":"HP:0034712","name":"Decreased circulating alpha-mannosidase activity","obsolete":false,"parents":["HP:4000201"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the hepatocyte, which is the main cell type that makes up the liver perncyhma. Hepatocytes are usually binucleated and appear as sheets in the liver tissue.","id":"HP:0034713","name":"Abnormal hepatocyte morphology","obsolete":false,"parents":["HP:0030146"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of dark, coarsely granular pigment localized in lysosomes of centrilobular hepatocytes.","id":"HP:0034714","name":"Hepatic melanin-like lysosomal pigmentation","obsolete":false,"parents":["HP:0034713"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of the enzyme uroporphyrinogen decarboxylase (UROD; EC 4.1.1.37) below the lower limit of normal.","id":"HP:0034715","name":"Reduced uroporphyrinogen decarboxylase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of the enzyme heme oxygenase below the lower limit of normal.","id":"HP:0034716","name":"Reduced heme oxygenase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of enlarged and swollen neurons that lack Nissl bodies (the rough endoplasmic reticulum-achromasia refers to neurons that lack Nissl bodies) in the cortex of the brain.","id":"HP:0034717","name":"Swollen achromatic neurons in the cerebral cortex","obsolete":false,"parents":["HP:0002538"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cerebral cortex Pick cells"},{"scope":"EXACT","text":"Cerebral cortex swollen achromatic neurons"}]} +{"alt_ids":[],"definition":"Presence of vacuoles (membrane-bound organelles that areempty of cytoplasm, lined with a membrane, and filled with fluid) in hepatocytes, which normally rarely contain vacuoles.","id":"HP:0034718","name":"Vacuolated hepatocytes","obsolete":false,"parents":["HP:0034713"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hepatocyte vacuolization"}]} +{"alt_ids":[],"definition":"An abnormality of oocyte maturation characterized by the inability of oocytes to form pronuclei after in vitro fertilization procedures. Oocytes normally show two pronuclei 17 to 20 hours after in vitro insemination.","id":"HP:0034719","name":"Lack of oocyte pronucleus formation","obsolete":false,"parents":["HP:0033338"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of skin tumor that initially presents as a reddish macule and subsequently becomes papular, enlarged, ulcerated and ultimately heals leaving pitted scars.","id":"HP:0034720","name":"Self-healing squamous epithelioma","obsolete":false,"parents":["HP:0008069"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of pristanic acid in the blood circulation above the upper limit of normal.","id":"HP:0034721","name":"Elevated circulating pristanic acid concentration","obsolete":false,"parents":["HP:0010964"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Rounded or oval structures that appeared brown on hematoxylin and eosin and red on the modified Gomori trichrome stain.","id":"HP:0034722","name":"Sarcoplasmic bodies","obsolete":false,"parents":["HP:0100299"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0034723","name":"Elevated CSF hydroxyproline concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of cystine in the cerebrospinal fluid below the lower limit of normal. Cystine is sulfur-containing amino acid obtained by the oxidation of two cysteine molecules which are then linked via a disulfide bond.","id":"HP:0034724","name":"Reduced CSF cystine concentration","obsolete":false,"parents":["HP:0500184"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cystine low in CSF"}]} +{"alt_ids":[],"definition":"Activity of the enzyme beta-mannosidase outside normal limits. Beta-mannosidase is a lysosomal enzyme that catabolizes oligosaccharides.","id":"HP:0034725","name":"Abnormal circulating beta-mannosidase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of the enzyme beta-mannosidase above the upper limit of normal. Beta-mannosidase is a lysosomal enzyme that catabolizes oligosaccharides.","id":"HP:0034726","name":"Elevated circulating beta-mannosidase activity","obsolete":false,"parents":["HP:0034725"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Beta-mannosidase high in blood"}]} +{"alt_ids":[],"definition":"Activity of the enzyme alpha-L-fucosidase below the lower limit of normal.","id":"HP:0034727","name":"Reduced circulating alpha-L-fucosidase activity","obsolete":false,"parents":["HP:0034728"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of the enzyme alpha-L-fucosidase in the blood circulation outside the limits of normal.","id":"HP:0034728","name":"Abnormal circulating alpha-L-fucosidase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of the enzyme alpha-L-fucosidase above the upper limit of normal.","id":"HP:0034729","name":"Elevated circulating alpha-L-fucosidase activity","obsolete":false,"parents":["HP:0034728"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased concentration of S-adenosyl-L-homocysteine in the blood circulation.","id":"HP:0034730","name":"Elevated circulating S-adenosyl-L-homocysteine concentration","obsolete":false,"parents":["HP:0033109"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated AdoHcy concentration"}]} +{"alt_ids":[],"definition":"Concentration S-adenosyl-L-methionine in the blood circulation above the upper limit of normal.","id":"HP:0034731","name":"Elevated circulating S-adenosyl-L-methionine concentration","obsolete":false,"parents":["HP:0033109"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High blood AdoMet"}]} +{"alt_ids":[],"definition":"Malignant hyperthermia that is characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40 degrees C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure.","id":"HP:0034732","name":"Exercise-triggered malignant hyperthermia","obsolete":false,"parents":["HP:0002047"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Exertional heat stroke"},{"scope":"EXACT","text":"Malignant hyperthermia due to exercise"}]} +{"alt_ids":[],"definition":"Malignant hyperthermia that is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine.","id":"HP:0034733","name":"Anesthesic-triggered malignant hyperthermia","obsolete":false,"parents":["HP:0002047"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Malignant hyperthermia with anaesthesia"},{"scope":"EXACT","text":"Malignant hyperthermia with anesthesia"}]} +{"alt_ids":[],"definition":"Concentration of argininosuccinic acid in the cerebrospinal fluid (CSF) above the upper limit of normal.","id":"HP:0034734","name":"Elevated CSF argininosuccinic acid concentration","obsolete":false,"parents":["HP:0500184"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Argininosuccinic acid high in CSF"}]} +{"alt_ids":[],"definition":"Concentration of aspartylglucosamine in the cerebrospinal fluid (CSF) above the upper limit of normal.","id":"HP:0034735","name":"Elevated CSF aspartylglucosamine concentration","obsolete":false,"parents":["HP:0500184"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aspartylglucosamine high in CSF"}]} +{"alt_ids":[],"definition":"Concentration of alpha-oxoadipic acid in the blood above the upper limit of normal.","id":"HP:0034736","name":"Elevated circulating alpha-oxoadipic acid concentration","obsolete":false,"parents":["HP:0010995"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Alpha-oxoadipic acid high in blood"}]} +{"alt_ids":[],"definition":"A deviation from the normal range of a metabolite in red blood cells.","id":"HP:0034737","name":"Abnormal erythrocyte metabolite concentration","obsolete":false,"parents":["HP:0001877","HP:0032243"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of glutathione in red blood cells below the lower limit of normal. Glutathione (GSH) is an important redox active biomolecule critical in the maintenance and regulation of cellular and organismal health.","id":"HP:0034738","name":"Reduced erythrocyte glutathione concentration","obsolete":false,"parents":["HP:0034737"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of sarcosine in the cerebrospinal fluid (CSF) above the upper limit of normal.","id":"HP:0034739","name":"Elevated CSF sarcosine concentration","obsolete":false,"parents":["HP:0500225"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sarcosine high in CSF"}]} +{"alt_ids":[],"definition":"Concentration of methionine in the cerebrospinal fluid below the lower limit of normal.","id":"HP:0034740","name":"Reduced CSF methionine concentration","obsolete":false,"parents":["HP:0500209"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Methionine low in CSF"}]} +{"alt_ids":[],"definition":"Concentration of homoarginine in the blood circulation above the upper limit of normal.","id":"HP:0034741","name":"Elevated circulating homoarginine concentration","obsolete":false,"parents":["HP:0033109"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Homoarginine high in blood"}]} +{"alt_ids":[],"definition":"The concentration of formiminoglutamic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0034742","name":"Elevated urinary formiminoglutamic acid level","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Formiminoglutamic acid high in urine"}]} +{"alt_ids":[],"definition":"Concentration of proline in the cerebrospinal fluid (CSF) above the upper limit of normal.","id":"HP:0034743","name":"Elevated CSF proline concentration","obsolete":false,"parents":["HP:0500184"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Level of S-sulfocysteine high in urine above the upper limit of normal.","id":"HP:0034744","name":"Elevated urinary S-sulfocysteine level","obsolete":false,"parents":["HP:0033098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"S-sulfocysteine high in urine"}]} +{"alt_ids":[],"definition":"Concentration of S-sulfocysteine in the blood circulation above the upper limit of normal.","id":"HP:0034745","name":"Elevated circulating S-sulfocysteine concentration","obsolete":false,"parents":["HP:0033109"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"S-sulfocysteine high in blood"}]} +{"alt_ids":[],"definition":"Abnormal increase in the number of Sertoli cells in the testis.","id":"HP:0034746","name":"Sertoli cell hyperplasia","obsolete":false,"parents":["HP:0000035"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of an infectious agent in the cerebrospinal fluid (CSF).","id":"HP:0034747","name":"CSF infectious agent","obsolete":false,"parents":["HP:0002921"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Mycobacterium present in the cerebrospinal fluid (CSF). This feature can be ascertained by CSF microscopy.","id":"HP:0034748","name":"CSF mycobacteria","obsolete":false,"parents":["HP:0034429"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of a fungal organism (such as candida or coccidioides) in the blood stream.","id":"HP:0034749","name":"Fungemia","obsolete":false,"parents":["HP:0031863"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fungaemia"},{"scope":"EXACT","text":"Fungal bloodstream infection"},{"scope":"EXACT","text":"Fungi in blood"},{"scope":"EXACT","text":"Presence of fungi in the blood"}]} +{"alt_ids":[],"definition":"Enlarged lymph node located just above the clavicle (collarbone).","id":"HP:0034750","name":"Supraclavicular lymphadenopathy","obsolete":false,"parents":["HP:0002716"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Enlarged lymph node located in the inguinal region (groin).","id":"HP:0034751","name":"Inguinal lymphadenopathy","obsolete":false,"parents":["HP:0002716"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Enlarged lymph node located in the axillary region (armpit).","id":"HP:0034752","name":"Axillary lymphadenopathy","obsolete":false,"parents":["HP:0002716"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Murphy's sign is elicited in patients with acute cholecystitis by asking the patient to take in and hold a deep breath while palpating the subcostal region. In practice, Murphy's sign is performed by palpating the subcostal region during inspiration. If pain is elicited and the patient suddenly stops their inspiratory effort, a positive Murphy's sign has been elicited.","id":"HP:0034753","name":"Positive Murphy sign","obsolete":false,"parents":["HP:0011458"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Murphy's sign"},{"scope":"EXACT","text":"Murphy's sign positive"},{"scope":"EXACT","text":"Sweeney's sign"}]} +{"alt_ids":[],"definition":"Vomiting whereby the vomit has the color of bile, yellowish-green.","id":"HP:0034754","name":"Bilious emesis","obsolete":false,"parents":["HP:0002013"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by treatment with a nonsteroidal anti-inflammatory drug (NSAID).","id":"HP:0034755","name":"Ameliorated by NSAID","obsolete":false,"parents":["HP:0034536"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ameliorated by nonsteroidal anti-inflammatory drug"}]} +{"alt_ids":[],"definition":"A history of exposure during pregnancy of the mother of a fetus or child to a medication or other substance.","id":"HP:0034756","name":"Fetal exposure history","obsolete":false,"parents":["HP:0002686","HP:4000110"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fetal medication or drug exposure"},{"scope":"EXACT","text":"Foetal medication or drug exposure"},{"scope":"EXACT","text":"Maternal exposure history"}]} +{"alt_ids":[],"definition":"A history of exposure during pregnancy of the mother of a fetus or child to barbiturate medications such as phenobarbital. Barbiturates are used medically as anxiolytics, hypnotics, and anticonvulsants.","id":"HP:0034757","name":"Fetal barbiturate exposure","obsolete":false,"parents":["HP:0034756"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Maternal barbiturate use"}]} +{"alt_ids":[],"definition":"A history of exposure during pregnancy of the mother of a fetus or child to narcotic medications such as morphine or codeine. Narcotics are used medically to treat moderate or severe pain.","id":"HP:0034758","name":"Fetal narcotic exposure","obsolete":false,"parents":["HP:0034756"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Maternal narcotic exposure"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by administration of ethosuximide. Ethosuximide is most often used to treat absence seizures.","id":"HP:0034759","name":"Ameliorated by ethosuximide","obsolete":false,"parents":["HP:0025254"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lower than normal amount of extracellular matrix protein 1 (ECM1) in the epidermis.","id":"HP:0034760","name":"Reduced epidermal extracellular matrix protein 1 protein expression","obsolete":false,"parents":["HP:0034573"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced epidermal ECM1 protein expression"}]} +{"alt_ids":[],"definition":"Neurofibroma categorized according to the anatomical site of origin.","id":"HP:0034761","name":"Neurofibroma by anatomical location","obsolete":false,"parents":["HP:0001067"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A neurofibroma (benign peripheral nerve sheath tumor) localized in the tongue.","id":"HP:0034762","name":"Tongue neurofibroma","obsolete":false,"parents":["HP:0034761"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A neurofibroma (benign peripheral nerve sheath tumor) localized in the heart.","id":"HP:0034763","name":"Cardiac neurofibroma","obsolete":false,"parents":["HP:0034761"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A neurofibroma (benign peripheral nerve sheath tumor) localized in the stomach.","id":"HP:0034764","name":"Gastric neurofibroma","obsolete":false,"parents":["HP:0034761"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A neurofibroma (benign peripheral nerve sheath tumor) localized in the kidney.","id":"HP:0034765","name":"Renal neurofibroma","obsolete":false,"parents":["HP:0034761"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in muscle fibers.","id":"HP:0034766","name":"Muscle fiber polyglucosan inclusion bodies","obsolete":false,"parents":["HP:0100299"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle biopsy: polyglucosan accumulation"}]} +{"alt_ids":[],"definition":"Abnormal structure of the rete ridges (also known as rete pegs), which are downward projections of epithelium surrounding the connective tissue papillae in between the dermal papillae.","id":"HP:0034767","name":"Abnormal rete ridge morphology","obsolete":false,"parents":["HP:0011124"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased length of the rete rdiges of the epidermis.","id":"HP:0034768","name":"Rete ridge elongation","obsolete":false,"parents":["HP:0034767"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elongation of rete ridges"},{"scope":"EXACT","text":"Rete ridges elongated"}]} +{"alt_ids":[],"definition":"Accumulation of monoclonal CD1a-positive Langerhans cells in the bronchioles and alveolar interstitium that can cause damage to the lungs.","id":"HP:0034769","name":"Pulmonary Langerhans cell histiocytosis","obsolete":false,"parents":["HP:0006530"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Flattening of a curve in the spine in the lumbar (lower back) region.","id":"HP:0034770","name":"Lumbar hypolordosis","obsolete":false,"parents":["HP:0010674"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced lumbar lordosis"}]} +{"alt_ids":[],"definition":"Battle sign is bruising over the mastoid process that is typically the result of head trauma. It is retroauricular or mastoid ecchymosis that is typically the result of head trauma. Battle sign typically requires significant head trauma and may indicate significant internal injury to the brain and not just the posterior cranial vault or mastoid.","id":"HP:0034771","name":"Battle sign","obsolete":false,"parents":["HP:0031364"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Battle sign bruise"},{"scope":"EXACT","text":"Battle's sign"}]} +{"alt_ids":[],"definition":"Reduced anterioposterior dimension of the skull base.","id":"HP:0034772","name":"Decreased skull base length","obsolete":false,"parents":["HP:0002693"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased cranial base length"},{"scope":"EXACT","text":"Short skull base"}]} +{"alt_ids":[],"definition":"A visual disturbance in which objects in the visual field appear to oscillate (jump, jiggle, vibrate).","id":"HP:0034773","name":"Oscillopsia","obsolete":false,"parents":["HP:0000504"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The frequency with which the eye is blinked is below the lower limit of normal.","id":"HP:0034774","name":"Decreased blink rate","obsolete":false,"parents":["HP:0034775"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blinking reduced"}]} +{"alt_ids":[],"definition":"A deviation from the normal frequency of blinking the eye.","id":"HP:0034775","name":"Abnormal blink rate","obsolete":false,"parents":["HP:0000504"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The frequecy with which the eye is blinked is above the upper limit of normal.","id":"HP:0034776","name":"Elevated blink rate","obsolete":false,"parents":["HP:0034775"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Sputum contains pus.","id":"HP:0034777","name":"Purulent sputum","obsolete":false,"parents":["HP:0032016"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The mother of a fetus or index patient has a history of hyperthyroidism during the corresponding pregnancy.","id":"HP:0034778","name":"Maternal hyperthyroidism","obsolete":false,"parents":["HP:0002686"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality that affects the perineum (the region of skin between the genitals and the anus).","id":"HP:0034779","name":"Perineal","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Perineal distribution to finding"},{"scope":"EXACT","text":"Perineal location"}]} +{"alt_ids":[],"definition":"History of exposure to gadolinium, a contrast medium often used for magnetic resonance imaging.","id":"HP:0034780","name":"Gadolinium exposure","obsolete":false,"parents":["HP:4000110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:6000178"],"definition":"Excretion of pus (purulent discharge) from the opening of the parotid duct.","id":"HP:0034781","name":"Purulent parotid gland drainage","obsolete":false,"parents":["HP:0000197"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Purulent Stensen duct drainage"},{"scope":"EXACT","text":"Purulent drainage from Stensen duct"}]} +{"alt_ids":[],"definition":"Obstipation is the inability to pass either stool or flatus (gas).","id":"HP:0034782","name":"Obstipation","obsolete":false,"parents":["HP:0002019"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lack of flatulence"},{"scope":"EXACT","text":"No gas passage"},{"scope":"RELATED","text":"Tympanic distended abdomen"}]} +{"alt_ids":[],"definition":"Vomiting following a coughing spell.","id":"HP:0034783","name":"Posttussive emesis","obsolete":false,"parents":["HP:0002013"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Vasculitis categorized according to the anatomical site where the finding is localized.","id":"HP:0034784","name":"Vasculitis by anatomical site","obsolete":false,"parents":["HP:0002633"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Vasculitis categorized according to type of histological abnormality.","id":"HP:0034785","name":"Vasculitis by histology","obsolete":false,"parents":["HP:0002633"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of vasculitis characterized by the presence of debris of neutrophils within the blood vessel walls.","id":"HP:0034786","name":"Leukocytoclastic vasculitis","obsolete":false,"parents":["HP:0034785"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0034787","name":"Accumulation of lipid droplets in small-bowel enterocytes","obsolete":false,"parents":["HP:0025129"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A pericardial friction rub is a grating, to-and-fro sound that occurs in phase with the heart sounds.","id":"HP:0034788","name":"Pericardial friction rub","obsolete":false,"parents":["HP:0031657"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cardiac rub"}]} +{"alt_ids":[],"definition":null,"id":"HP:0034789","name":"Muscular vasculitis","obsolete":false,"parents":["HP:0034784"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Skeletal muscle vasculitis"}]} +{"alt_ids":[],"definition":"Any deviation from the normal amount of staining of succinate dehydrogenase in skeletal muscle tissue.","id":"HP:0034790","name":"Abnormal muscle succinate dehydrogenase staining","obsolete":false,"parents":["HP:0034510"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0034791","name":"Increased muscle succinate dehydrogenase staining","obsolete":false,"parents":["HP:0034790"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0034792","name":"Decreased muscle succinate dehydrogenase staining","obsolete":false,"parents":["HP:0034790"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the small intestine.","id":"HP:0034793","name":"Small intestinal hamartoma","obsolete":false,"parents":["HP:0010566","HP:0100833"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pyriform spermatozoa consist of a normally shaped acrosomal structure which can be normal in size or enlarged, while the post-acrosomal region shows severe elongation and an acute narrowing to the posterior end, ending in about the same thickness as the connecting mid-piece.","id":"HP:0034794","name":"Pyriform sperm head","obsolete":false,"parents":["HP:0012865"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pyriform head"}]} +{"alt_ids":[],"definition":"Excess residual cytoplasm is associated with abnormal spermatozoa produced from a defective spermiation process. This abnormal excess cytoplasm should not be confused with more physiological cytoplasmic residues that can be observed in direct microscopy of the ejaculate but not in dried, fixed and stained morphology smears.","id":"HP:0034795","name":"Excess residual spermatozoal cytoplasm","obsolete":false,"parents":["HP:0012864"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Subsarcolemmal, eosinophilic glass-like regions within the cytoplasm of cardiomyocytes.","id":"HP:0034796","name":"Cardiomyocyte hyaline bodies","obsolete":false,"parents":["HP:0031334"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the liver.","id":"HP:0034797","name":"Hepatic hemophagocytosis","obsolete":false,"parents":["HP:0012156"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the cerebrospinal fluid (CSF).","id":"HP:0034798","name":"CSF hemophagocytosis","obsolete":false,"parents":["HP:0012156"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hemophagocytosis in CSF"}]} +{"alt_ids":[],"definition":"Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the spleen.","id":"HP:0034799","name":"Splenic hemophagocytosis","obsolete":false,"parents":["HP:0012156"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spleen hemophagocytosis"}]} +{"alt_ids":[],"definition":"The presence of multiple granulomas in the urinary bladder as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.","id":"HP:0034800","name":"Urinary bladder granulomatosis","obsolete":false,"parents":["HP:0002955"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Urinary bladder granulomas"}]} +{"alt_ids":[],"definition":"Death of keratinocytes in the epidermis layer of the skin, which generally manifests as extensive exfoliation (separation of the epidermis from the underlying dermis).","id":"HP:0034801","name":"Epidermal necrosis","obsolete":false,"parents":["HP:0011124"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applied to a sign or symptom that is aggravated by (or made more painful by) bending of a limb or joint.","id":"HP:0034802","name":"Exacerbated by flexion","obsolete":false,"parents":["HP:0025285"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of blood in tears.","id":"HP:0034803","name":"Hemolacria","obsolete":false,"parents":["HP:0000632"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bloody epiphora"},{"scope":"EXACT","text":"Bloody tears"},{"scope":"EXACT","text":"Red tears"}]} +{"alt_ids":[],"definition":"A perception that an object is in contact with the eye.","id":"HP:0034804","name":"Corneal foreign body sensation","obsolete":false,"parents":["HP:0012373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Conjunctival foreign body sensation"},{"scope":"EXACT","text":"Foreign body sensation in the eye"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the buttock (round fleshy area at the lower rear area of a human trunk).","id":"HP:0034805","name":"Buttock pain","obsolete":false,"parents":["HP:0012531"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A perception that an object located in the vagina.","id":"HP:0034806","name":"Vaginal foreign body sensation","obsolete":false,"parents":["HP:0034268"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Attacks of breathlessness that occur at night and may awaken the sleeping patient.","id":"HP:0034807","name":"Paroxysmal nocturnal dyspnea","obsolete":false,"parents":["HP:0002094"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eyelid.","id":"HP:0034808","name":"Eyelid pain","obsolete":false,"parents":["HP:0012531","HP:0031879"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormality of a sperm function including protection of paternal DNA, traversing the female reproductive tract, oocyte localisation, penetration of the zona pellucida, oocyte activation and centriole deposition.","id":"HP:0034809","name":"Abnormal sperm physiology","obsolete":false,"parents":["HP:0000025"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduction in size of the acrosome below the lower limit of normal. The acrosome is a unique membranous organelle located over the anterior part of the sperm nucleus. According to the World Health Organization criteria, the acrosome must be clearly visible, comprising approximately 40-70 percent of the sperm head.","id":"HP:0034810","name":"Small acrosomal area","obsolete":false,"parents":["HP:0012865"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The proportion of sperm cells whose flagella is sharply curved or has a sharp angle is above normal limits.","id":"HP:0034811","name":"Bent sperm flagella","obsolete":false,"parents":["HP:0012868"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Spermiation failure is indicated by apparently normal spermiogenesis, but the presence of retained Sd2 spermatids in stages III-V of human spermatogenesis, whereas maturation arrest is indicated by a lack of late Sd1 and Sd2 spermatids in the epithelium.","id":"HP:0034812","name":"Spermiation failure","obsolete":false,"parents":["HP:0011961"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A morphological abnormality visible upon biopsy of the germinal epithelium of the testis in which the cellularity of the germinal epithelium is reduced in general, so that all stages of germ cells (spermatogonia, spermatocytes, and spermatids) are present but reduced in number. This term applies to biopsies with some tubules showing diminished amounts of qualitatively complete spermatogenesis in combination with a vast majority of tubules that lack germ cells.","id":"HP:0034813","name":"Hypospermatogenesis","obsolete":false,"parents":["HP:0008669"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Formation of a sheet of tissue by coagulum of exudate over the conjunctiva of the eye that if removed leaves behind a denuded bleeding surface.","id":"HP:0034814","name":"Conjunctival membrane","obsolete":false,"parents":["HP:0000502"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of oligozoospermia characterized by a total number of more than zero but less than 2 million sperm in the ejaculate or a concentration of more than zero but less than one million sperm per milliliter.","id":"HP:0034815","name":"Extreme oligozoospermia","obsolete":false,"parents":["HP:0000798"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of oligozoospermia characterized by a total number of more than 30 but less than 39 million sperm in the ejaculate or a concentration of more than 10 but less than 15 million sperm per milliliter.","id":"HP:0034816","name":"Mild oligozoospermia","obsolete":false,"parents":["HP:0000798"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of oligozoospermia characterized by a total number of more than 10 but less than 29 million sperm in the ejaculate or a concentration of more than 5 but less than 10 million sperm per milliliter.","id":"HP:0034817","name":"Moderate oligozoospermia","obsolete":false,"parents":["HP:0000798"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of oligozoospermia characterized by a total number of more than 2 but less than 10 million sperm in the ejaculate or a concentration of more than 1 but less than 5 million sperm per milliliter.","id":"HP:0034818","name":"Severe oligozoospermia","obsolete":false,"parents":["HP:0000798"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a nodule (small rounded lump of tissue) in the iris.","id":"HP:0034819","name":"Iris nodule","obsolete":false,"parents":["HP:0000525"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of iris nodule consisting of inflammatory cell precipitates which lie at the pupillary margin.","id":"HP:0034820","name":"Koeppe nodules","obsolete":false,"parents":["HP:0034819"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Koeppe iris nodules"},{"scope":"EXACT","text":"Koeppe's nodules"}]} +{"alt_ids":[],"definition":"A type of iris nodule consisting of inflammatory cell precipitates which lie on the iris surface.","id":"HP:0034821","name":"Bussaca nodules","obsolete":false,"parents":["HP:0034819"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0034822","name":"Abnormal CSF ion concentration","obsolete":false,"parents":["HP:0002921"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of copper in the cerebrospinal fluid (CSF) below the lower limit of normal.","id":"HP:0034823","name":"Decreased CSF copper concentration","obsolete":false,"parents":["HP:0034822"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Copper low in cerebrospinal fluid"}]} +{"alt_ids":[],"definition":"Diffuse lymphoid hyperplasia (DLH) describes the pathological entity that lies between follicular bronchiolitis and lymphocytic interstitial pneumonia (LIP). It is pathologically characterized by a diffuse peribronchiolar proliferation of hyperplastic lymphoid follicles (BALT), extended along the lymphatics to involve the interlobular septa and pleura. Unlike LIP, DHL does not show uniform involvement of the alveolar septa.","id":"HP:0034824","name":"Diffuse pulmonary lymphoid hyperplasia","obsolete":false,"parents":["HP:0033582"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by treatment with a steroid medication such as prednisone.","id":"HP:0034825","name":"Ameliorated by steroid medication","obsolete":false,"parents":["HP:0034536"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0034826","name":"obsolete Triggered by medication exposure","obsolete":true,"parents":[],"replaced_by":["HP:4000101"],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by administration of levothyroxin (thyroid hormone).","id":"HP:0034827","name":"Triggered by levothyroxin exposure","obsolete":false,"parents":["HP:4000101"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A decreased amount of laminin alpha-2 chain in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue.","id":"HP:0034828","name":"Reduced muscle laminin alpha-2 chain staining","obsolete":false,"parents":["HP:0034510"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal thickening of of the outer layer (cortex) of the adrenal gland due to fibrosis.","id":"HP:0034829","name":"Adrenal cortical sclerosis","obsolete":false,"parents":["HP:0011732"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of fructose 1,6-bisphosphate aldolase in liver tissue below the lower limit of normal.","id":"HP:0034830","name":"Reduced hepatic fructose-1,6-phosphate aldolase activity","obsolete":false,"parents":["HP:0034685"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the pancreas.","id":"HP:0034831","name":"Pancreatic hamartoma","obsolete":false,"parents":["HP:0010566"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign liver neoplasm composed of fat, vascular, and smooth muscle elements.","id":"HP:0034832","name":"Liver angiomyolipoma","obsolete":false,"parents":["HP:0034514"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hepatic angiomyolipoma"}]} +{"alt_ids":[],"definition":"A lipoma that is located within a the heart.","id":"HP:0034833","name":"Cardiac lipoma","obsolete":false,"parents":["HP:0012032"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in peripheral nerve fibers.","id":"HP:0034834","name":"Peripheral nerve polyglucosan inclusion bodies","obsolete":false,"parents":["HP:0000759"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in myocardial tissue.","id":"HP:0034835","name":"Cardiac polyglucosan accumulation","obsolete":false,"parents":["HP:0001637"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign cystic neoplasm of the kidney.","id":"HP:0034836","name":"Cystic nephroma","obsolete":false,"parents":["HP:0009726"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bbenign multilocular cystic nephroma"},{"scope":"EXACT","text":"Multicystic nephroma"},{"scope":"EXACT","text":"Multilocular cystic renal tumor"},{"scope":"EXACT","text":"Multilocular cystic renal tumour"},{"scope":"EXACT","text":"Polycystic nephroblastoma"}]} +{"alt_ids":[],"definition":"Elastic fibers not demonstrable in skin biopsy.","id":"HP:0034837","name":"Absent dermal elastic fibers","obsolete":false,"parents":["HP:0025082"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Splitting of the skin (cell-cell adhesion of keratinocytes) localized to the interface between the stratum corneum and stratum granulosum layers of the epidermis.","id":"HP:0034838","name":"Cleavage at junction of stratum corneum and stratum granulosum","obsolete":false,"parents":["HP:0033802"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal bone marrow finding characterized by many poorly circumscribed and occasionally confluent lymphoid nodules. The nodules contain small and uniform lymphocytes with rounded nuclei, clumped chromatin, and without prominent nucleoli.","id":"HP:0034839","name":"Lymphoid hyperplasia","obsolete":false,"parents":["HP:0005561"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lack of lamellar bodies (LBs) inthe epidermis. LBs are specialized organelles that contain pro-barrier lipids imparting a fully lamellar internal structure, but also other cargoes such as enzymes (lipid metabolizing and proteolytic), enzyme inhibitors, and antimicrobial peptides.","id":"HP:0034840","name":"Absence of epidermal lamellar bodies","obsolete":false,"parents":["HP:0011124"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of multiple granulomas in the gastrointestinal tract (Pylorus, esophagus, jejunum, ileum, cecum, rectum, perirectal area, esophagus) as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.","id":"HP:0034841","name":"Gastrointestinal granulomatosis","obsolete":false,"parents":["HP:0002955"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased size of sperm vacuoles, which are surface concavities typically located at the the tip or middle area of sperm heads. According to the WHO Laboratory Manual for the Examination and Processing of Human Semen, sperm head vacuoles are considered abnormal when exceeding 20% of the cross-sectional area of the head. Vacuoles are found in almost all samples with normal sperm morphology; this term applies if the proportion of sperm with abnormally large vacuoles is above the upper limit of normal.","id":"HP:0034842","name":"Enlarged sperm head vacuole","obsolete":false,"parents":["HP:0012865"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the ureter.","id":"HP:0034843","name":"Ureteral hamartoma","obsolete":false,"parents":["HP:0010566","HP:0100516"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A history of exposure during pregnancy of the mother of a fetus or child to methimazole.","id":"HP:0034844","name":"Fetal methimazole exposure","obsolete":false,"parents":["HP:0034756"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Maternal methimazole exposure"},{"scope":"EXACT","text":"Methimazole exposure during gestation"}]} +{"alt_ids":[],"definition":"A history of exposure during pregnancy of the mother of a fetus or child to procarbazine.","id":"HP:0034845","name":"Fetal procarbazine exposure","obsolete":false,"parents":["HP:0034756"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Maternal procarbazine exposure"},{"scope":"EXACT","text":"Procarbazine exposure during gestation"}]} +{"alt_ids":[],"definition":"A history of exposure during pregnancy of the mother of a fetus or child to fluorouracil.","id":"HP:0034846","name":"Fetal fluorouracil exposure","obsolete":false,"parents":["HP:0034756"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fluorouracil exposure during gestation"},{"scope":"EXACT","text":"Maternal fluorouracil exposure"}]} +{"alt_ids":[],"definition":"A history of exposure during pregnancy of the mother of a fetus or child to cytarabine.","id":"HP:0034847","name":"Fetal cytarabine exposure","obsolete":false,"parents":["HP:0034756"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cytarabine exposure during gestation"},{"scope":"EXACT","text":"Maternal cytarabine exposure"}]} +{"alt_ids":[],"definition":"A history of exposure during pregnancy of the mother of a fetus or child to tetracycline.","id":"HP:0034848","name":"Fetal tetracycline exposure","obsolete":false,"parents":["HP:0034756"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Maternal tetracycline exposure"},{"scope":"EXACT","text":"Tetracycline exposure during gestation"}]} +{"alt_ids":[],"definition":"A history of exposure during pregnancy of the mother of a fetus or child to quinine.","id":"HP:0034849","name":"Fetal quinine exposure","obsolete":false,"parents":["HP:0034756"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Maternal quinine exposure"},{"scope":"EXACT","text":"Quinine exposure during gestation"}]} +{"alt_ids":[],"definition":"A history of exposure during pregnancy of the mother of a fetus or child to cyclophosphamide.","id":"HP:0034850","name":"Fetal cyclophosphamide exposure","obsolete":false,"parents":["HP:0034756"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cyclophosphamide exposure during gestation"},{"scope":"EXACT","text":"Maternal cyclophosphamide exposure"}]} +{"alt_ids":[],"definition":"A history of exposure during pregnancy of the mother of a fetus or child to metronidazole.","id":"HP:0034851","name":"Fetal metronidazole exposure","obsolete":false,"parents":["HP:0034756"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Maternal metronidazole exposure"},{"scope":"EXACT","text":"Metronidazole exposure during gestation"}]} +{"alt_ids":[],"definition":"A history of exposure during pregnancy of the mother of a fetus or child to phenobarbital.","id":"HP:0034852","name":"Fetal phenobarbital exposure","obsolete":false,"parents":["HP:0034756"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Maternal phenobarbital exposure"},{"scope":"EXACT","text":"Phenobarbital exposure during gestation"}]} +{"alt_ids":[],"definition":"A history of exposure during pregnancy of the mother of a fetus or child to phenytoin.","id":"HP:0034853","name":"Fetal phenytoin exposure","obsolete":false,"parents":["HP:0034756"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Maternal phenytoin exposure"},{"scope":"EXACT","text":"Phenytoin exposure during gestation"}]} +{"alt_ids":[],"definition":"Applies to an abnormality whose distribution and appearance are located at or near the umbilicus (belly button).","id":"HP:0034854","name":"Periumbilical","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A history of obesity, which can be defined as a body mass index of 30 or greater, in the mother of a fetus or index patient.","id":"HP:0034855","name":"Maternal obesity during pregnancy","obsolete":false,"parents":["HP:0002686"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A history of amniocentesis having been performed in the mother of a fetus or index patient.","id":"HP:0034856","name":"Maternal amniocentesis","obsolete":false,"parents":["HP:0002686"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Description of conditions in which age of onset is highly variable even in family members who share the same disease-associated variant or variants.","id":"HP:0034857","name":"Typified by highly variable age of onset","obsolete":false,"parents":["HP:0034335"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of an enzyme as measured in leukocytes is above or below the limits of normal.","id":"HP:0034858","name":"Abnormal leukocyte enzyme concentration or activity","obsolete":false,"parents":["HP:0034684"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of beta-glucuronidase (EC 3.2.1.31) below the lower limit of normal. FECH enzyme can be measured in multiple tissues including cultured fibroblasts and leukocytes.","id":"HP:0034859","name":"Reduced tissue beta-glucuronidase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Beta-glucuronidase low in leukocytes"},{"scope":"NARROW","text":"Reduced beta-glucuronidase activity in cultured fibroblasts"},{"scope":"NARROW","text":"Reduced leukocyte beta-glucuronidase activity"}]} +{"alt_ids":[],"definition":"Concentration or activity of an alpha-L-fucosidase as measured in leukocytes is below the limits of normal.","id":"HP:0034860","name":"Reduced leukocyte alpha-L-fucosidase activity","obsolete":false,"parents":["HP:0034858"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of an arylsulfatase B as measured in leukocytes is below the limits of normal.","id":"HP:0034861","name":"Reduced leukocyte arylsulfatase B activity","obsolete":false,"parents":["HP:0034858"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of an arylsulfatase C as measured in leukocytes is below the limits of normal.","id":"HP:0034862","name":"Reduced leukocyte steroid sulfatase activity","obsolete":false,"parents":["HP:0034858"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced leukocyte arylsulfatase C activity"}]} +{"alt_ids":[],"definition":"Concentration or activity of the lysosomal enzyme arylsulfatase A (EC 3.1.6.8) as measured in leukocytes is below the limits of normal.","id":"HP:0034863","name":"Reduced leukocyte arylsulfatase A activity","obsolete":false,"parents":["HP:0034858"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of the enzyme alpha-galactosidase below the lower limit of normal.","id":"HP:0034864","name":"Decreased alpha-galactosidase A activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Demonstration of parasite in stool specimen, e.g., Parasites present on wet mount of stool.e","id":"HP:0034865","name":"Positive fecal parasite test","obsolete":false,"parents":["HP:0034866"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Parasites present on wet mount of stool"},{"scope":"EXACT","text":"Positive stool parasite test"}]} +{"alt_ids":[],"definition":"Any kind of test for an infectious agent in stool positive.","id":"HP:0034866","name":"Positive stool infectious agent test","obsolete":false,"parents":["HP:0031685","HP:0430030"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Test for giardia antigen in stool such as immune assay or DFA positive.","id":"HP:0034867","name":"Positive stool giardia antigen","obsolete":false,"parents":["HP:0034866"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Demonstration of antibody directed against Entamoeba histolytica in stool.","id":"HP:0034868","name":"Entamoeba histolytica antibody positive in stool","obsolete":false,"parents":["HP:0034866"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of porphyrin in erythrocytes below the lower limit of normal.","id":"HP:0034869","name":"Reduced erythrocyte free porphyrin concentration","obsolete":false,"parents":["HP:0010472"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of urocanic acid in the blood circulation is below the lower limit of normal.","id":"HP:0034870","name":"Reduced circulating urocanic acid concentration","obsolete":false,"parents":["HP:0010996"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Urocanic acid low in blood"}]} +{"alt_ids":[],"definition":"The concentration of epinephrine in the urine, normalized for urine concentration, is below the lower limit of normal.","id":"HP:0034871","name":"Decreased urinary epinephrine level","obsolete":false,"parents":["HP:0045012"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of epinephrine in the cerebrospinal fluid below the lower limit of normal.","id":"HP:0034872","name":"Decreased CSF epinephrine concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of epinephrin in the blood circulation below the lower limit of normal.","id":"HP:0034873","name":"Decreased circulating epinephrine concentration","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of norepinephrin in the blood circulation below the lower limit of normal.","id":"HP:0034874","name":"Decreased circulating norepinephrine concentration","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of norepinephrine in the urine, normalized for urine concentration, is below the lower limit of normal.","id":"HP:0034875","name":"Decreased urinary norepinephrine level","obsolete":false,"parents":["HP:0045012"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of metanephrine in the urine, normalized for urine concentration, is below the lower limit of normal.","id":"HP:0034876","name":"Decreased urinary metaepinephrine level","obsolete":false,"parents":["HP:0045012"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of metanephrine in the cerebrospinal fluid below the lower limit of normal.","id":"HP:0034877","name":"Decreased CSF metanephrine concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of metanephrin in the blood circulation below the lower limit of normal.","id":"HP:0034878","name":"Decreased circulating metanephrine concentration","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A swelling or enlargement localized to the ovary. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.","id":"HP:0034879","name":"Ovarian mass","obsolete":false,"parents":["HP:0031065"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A swelling or enlargement localized to the adrenal gland. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.","id":"HP:0034880","name":"Adrenal mass","obsolete":false,"parents":["HP:0011732"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A swelling or enlargement localized to the uterus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.","id":"HP:0034881","name":"Uterine mass","obsolete":false,"parents":["HP:0031105"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Calcium deposits in the prostate gland.","id":"HP:0034882","name":"Prostatic calculus","obsolete":false,"parents":["HP:0008775"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prostatic calcul"}]} +{"alt_ids":[],"definition":"A reduction in the velocity of portal venous flow, generally measured by Doppler ultrasound. Portal venous flow is normally towards the liver with peak systolic velocities in the range of 20-40 cm/s.","id":"HP:0034883","name":"Decreased portal vein velocity","obsolete":false,"parents":["HP:0031865"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced portal venous flow"}]} +{"alt_ids":[],"definition":"A swelling or enlargement localized to the cervis of the uterus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.","id":"HP:0034884","name":"Uterine cervix mass","obsolete":false,"parents":["HP:0012888"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for usine concentration, is outside the limits of normal.","id":"HP:0034885","name":"Abnormal urinary uromodulin level","obsolete":false,"parents":["HP:0020129"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for urine concentration, is below the lower limit of normal.","id":"HP:0034886","name":"Decreased urinary uromodulin level","obsolete":false,"parents":["HP:0034885"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uromodulin low in urine"}]} +{"alt_ids":[],"definition":"The concentration of phenylacetylglutamine in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0034887","name":"Increased urine phenylacetylglutamine level","obsolete":false,"parents":["HP:0033097"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of guanidinoacetic acid in the urine, normalized for urine concentration, is below the lower limit of normal.","id":"HP:0034888","name":"Decreased urine guanidinoacetic acid level","obsolete":false,"parents":["HP:0040418"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of DNA and RNA originating from an infectious agent (bacteria, viruses, parasites and fungi) in the urine.","id":"HP:0034889","name":"Positive urine infectious agent nucleic acid test","obsolete":false,"parents":["HP:0003110","HP:0025795"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of Cytomegalovirus (CMV) nucleic acid in the urine by a method such as polymerase chain reaction.","id":"HP:0034890","name":"Positive CMV urine nucleic acid test","obsolete":false,"parents":["HP:0034889"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cytomegalovirus (CMV) PCR in urine positive"},{"scope":"EXACT","text":"Positive cytomegalovirus urine nucleic acid test"}]} +{"alt_ids":[],"definition":"Detection of Neisseria gonorrhoeae nucleic acid in the urine by a method such as polymerase chain reaction.","id":"HP:0034891","name":"Positive Neisseria gonorrhoeae urine nucleic acid test","obsolete":false,"parents":["HP:0034889"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neisseria gonorrhoeae PCR positive in urine"}]} +{"alt_ids":[],"definition":"Detection of enterovirus nucleic acid in the urine by a method such as polymerase chain reaction.","id":"HP:0034892","name":"Positive enterovirus urine nucleic acid test","obsolete":false,"parents":["HP:0034889"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enterovirus RT-PCR in urine"}]} +{"alt_ids":[],"definition":"An increase in the level of glycine in the brain identified by magnetic resonance spectroscopy (MRS).","id":"HP:0034893","name":"Elevated brain glycine level by MRS","obsolete":false,"parents":["HP:0012705"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in the level of polyol compounds in the brain identified by magnetic resonance spectroscopy (MRS).","id":"HP:0034894","name":"Elevated brain polyol compounds by MRS","obsolete":false,"parents":["HP:0012705"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in the level of gamma-aminobutyric acid (GABA) in the brain identified by magnetic resonance spectroscopy (MRS).","id":"HP:0034895","name":"Elevated brain gamma-aminobutyric acid by MRS","obsolete":false,"parents":["HP:0012705"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated brain GABA by MRS"}]} +{"alt_ids":[],"definition":"Medical history of ingestion of anticoagulants prior to presentation.","id":"HP:0034896","name":"History of recent anticoagulant ingestion","obsolete":false,"parents":["HP:4000144"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of antidiuretic hormone, also known as vasopressin, is below the lower limit of normal in the blood circulation.","id":"HP:0034897","name":"Decreased circulating antidiuretic hormone concentration","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of growth hormone-releasing hormone above the upper limit of normal in the blood circulation.","id":"HP:0034898","name":"Elevated circulating growth hormone-releasing hormone concentration","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation of the concentration of a protein in the amniotic fluid from normal limits","id":"HP:0034899","name":"Abnormal amniotic fluid protein concentration","obsolete":false,"parents":["HP:0001560"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of alpha-fetoprotein in the amniotic fluid below lower limit of normal.","id":"HP:0034900","name":"Decreased amniotic fluid alpha-fetoprotein concentration","obsolete":false,"parents":["HP:0034899"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of vitamin E in the blood circulation above the upper limit of normal.","id":"HP:0034901","name":"Increased circulating vitamin E concentration","obsolete":false,"parents":["HP:0100514"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation outside of normal limits.","id":"HP:0034902","name":"Abnormal circulating calcitonin concentration","obsolete":false,"parents":["HP:0100530"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation below the lower limit of normal.","id":"HP:0034903","name":"Decreased circulating calcitonin concentration","obsolete":false,"parents":["HP:0034902"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Calcitonin low in blood"}]} +{"alt_ids":[],"definition":"Concentration of thyrotropin releasing hormone below the lower limit of normal in the blood circulation.","id":"HP:0034904","name":"Decreased circulating thyrotropin releasing hormone concentration","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating TRH concentration"},{"scope":"EXACT","text":"Thyrotropin releasing hormone (TRH) low in blood"}]} +{"alt_ids":[],"definition":"Concentration of uroporphyrin in the blood circulation above the upper limit of normal.","id":"HP:0034905","name":"Elevated circulating uroporphyrin concentration","obsolete":false,"parents":["HP:0034606"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of pentacarboxylporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0034906","name":"Increased urine pentacarboxylporphyrin level","obsolete":false,"parents":["HP:0010473"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pentacarboxylporphyrin high in urine"}]} +{"alt_ids":[],"definition":"Concentration of hexacarboxylporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0034907","name":"Increased urine hexacarboxylporphyrin level","obsolete":false,"parents":["HP:0010473"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hexacarboxylporphyrin high in urine"}]} +{"alt_ids":[],"definition":"Concentration of dehydroepiandrosterone in the blood circulation above the upper limit of normal.","id":"HP:0034908","name":"Increased circulating dehydroepiandrosterone concentration","obsolete":false,"parents":["HP:0500022"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dehydroepiandrosterone high in blood"}]} +{"alt_ids":[],"definition":"Concentration of coproporphyrin in erythrocytes above the upper limit of normal.","id":"HP:0034909","name":"Increased erythrocyte coproporphyrin concentration","obsolete":false,"parents":["HP:0034606"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of uroproporphyrin in erythrocytes above the upper limit of normal.","id":"HP:0034910","name":"Increased erythrocyte uroproporphyrin concentration","obsolete":false,"parents":["HP:0034606"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uroporphyrin high in erythrocytes"}]} +{"alt_ids":[],"definition":"The concentration of apolipoprotein E in the blood circulation is below the lower limit of normal.","id":"HP:0034911","name":"Decreased circulating apolipoprotein E concentration","obsolete":false,"parents":["HP:0033459"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased apolipoprotein E concentration"},{"scope":"EXACT","text":"Decreased apolipoprotein E level"},{"scope":"EXACT","text":"Decreased apolipoprotein E level in blood"},{"scope":"EXACT","text":"Reduced apolipoprotein E concentration"},{"scope":"EXACT","text":"Reduced apolipoprotein E level"},{"scope":"EXACT","text":"Reduced apolipoprotein E level in blood"}]} +{"alt_ids":[],"definition":"The concentration of apolipoprotein E in the blood circulation is above the upper limit of normal.","id":"HP:0034912","name":"Elevated circulating apolipoprotein E concentration","obsolete":false,"parents":["HP:0033460"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated apolipoprotein E concentration"},{"scope":"EXACT","text":"Elevated apolipoprotein E level"},{"scope":"EXACT","text":"Elevated apolipoprotein E level in blood"},{"scope":"EXACT","text":"Increased apolipoprotein E concentration"},{"scope":"EXACT","text":"Increased apolipoprotein E level"},{"scope":"EXACT","text":"Increased apolipoprotein E level in blood"}]} +{"alt_ids":[],"definition":"Reduction in the size of the acrosome of the head of spermatozoa.","id":"HP:0034913","name":"Acrosomal hypoplasia","obsolete":false,"parents":["HP:0012865"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Oocyte maturation arrest (OMA) can manifest as failed in vitro fetilization/intracytoplasmic sperm injection (IVF/ICSI) attempts using affected oocytes.","id":"HP:0034914","name":"Oocyte maturation arrest","obsolete":false,"parents":["HP:0033338"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the anus.","id":"HP:0034915","name":"Abnormal anus morphology","obsolete":false,"parents":["HP:0004378","HP:0025033"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional anomaly of the anus.","id":"HP:0034916","name":"Abnormal anus physiology","obsolete":false,"parents":["HP:0004378","HP:0025032"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced muscle tone of the sphincter of the anus.","id":"HP:0034917","name":"Weak anal sphincter tone","obsolete":false,"parents":["HP:0034916"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Diminished activity of the enzyme 2,4-dienoyl-CoA reductase in muscle tissue.","id":"HP:0034918","name":"Reduced muscle 2,4-dienoyl-CoA reductase activity","obsolete":false,"parents":["HP:0034526"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle biopsy: 2,4-dienoyl-CoA reductase activity low"}]} +{"alt_ids":[],"definition":"Diminished activity of the enzyme 2,4-dienoyl-CoA reductase in liver tissue.","id":"HP:0034919","name":"Reduced liver 2,4-dienoyl-CoA reductase activity","obsolete":false,"parents":["HP:0034685"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of blood vessels in the mucosa of the nasal cavity.","id":"HP:0034920","name":"Nasal mucosa vasculitis","obsolete":false,"parents":["HP:0000433"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pituitary blastoma is a distinctive anterior hypophyseal tumor of infants","id":"HP:0034921","name":"Pituitary blastoma","obsolete":false,"parents":["HP:0011750"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Axonal spheroids are bubble-like biological features that form on most degenerating axons.","id":"HP:0034922","name":"Peripheral axon spheroid formation","obsolete":false,"parents":["HP:0000759"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of the enzyme carboxylesterase 1 in liver tissue below the lower limit of normal.","id":"HP:0034923","name":"Reduced liver carboxylesterase 1 activity","obsolete":false,"parents":["HP:0034685"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the dermis, the layer of skin that lies beneath the epidermis and above the subcutaneous layer.","id":"HP:0034924","name":"Abnormal dermis morphology","obsolete":false,"parents":["HP:0011121"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deposition of a largely amorphous hyaline (transparent and homogeneous) substance around blood vessels in the dermis layer of the skin.","id":"HP:0034925","name":"Perivascular dermis hyaline deposition","obsolete":false,"parents":["HP:0034924"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deposition of a largely amorphous hyaline (transparent and homogeneous) substance around blood vessels in the wall of the small intestine.","id":"HP:0034926","name":"Perivascular small intestinal hyaline deposition","obsolete":false,"parents":["HP:0002244"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally large keratohyalin granules (KHG). KHG are typically present in the stratum granulosum of the epidermal layer of the skin (and epithelium of the mucosae). KHG are protein structures found in the keratinocytes of the stratum granulosum.","id":"HP:0034927","name":"Large keratohyaline granules","obsolete":false,"parents":["HP:0033806","HP:0034702"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced amount of lipoic acid in muscle tissue.","id":"HP:0034928","name":"Decreased muscle lipoic acid content","obsolete":false,"parents":["HP:0034370"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle biopsy: lipoic acid low"}]} +{"alt_ids":[],"definition":"Activity of cystathionine gamma-lyase in the liver below the lower limit of normal.","id":"HP:0034929","name":"Reduced hepatic cystathionine gamma-lyase activity","obsolete":false,"parents":["HP:0034685"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced hepatic cystathionase activity"}]} +{"alt_ids":[],"definition":"A tumor (abnormal growth of tissue) of the digestive system.","id":"HP:0034930","name":"Digestive system neoplasm","obsolete":false,"parents":["HP:0011793","HP:0025031"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Arthrosis, i.e., of degenerative joint disease, affecting the lumbar vertebral column.","id":"HP:0034931","name":"Lumbar spondylosis","obsolete":false,"parents":["HP:0100712"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lumbar spine osteoarthritis"}]} +{"alt_ids":[],"definition":"Activity of the enzyme acid maltase (also known as alpha-1,4-glucosidase) below the lower limit of normal.","id":"HP:0034932","name":"Decreased circulating acid maltase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased alpha-1,4-glucosidase activity"}]} +{"alt_ids":[],"definition":null,"id":"HP:0034933","name":"obsolete Increased circulating ribitol concentration","obsolete":true,"parents":[],"replaced_by":["HP:0025550"],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of 7-dehydrocholesterol in the blood circulation.","id":"HP:0034934","name":"Abnormal circulating 7-dehydrocholesterol concentration","obsolete":false,"parents":["HP:0003107"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal 7-dehydrocholesterol level"}]} +{"alt_ids":[],"definition":"Concentration of 7-dehydrocholesterol in the blood circulation below the lower limit of normal.","id":"HP:0034935","name":"Decreased circulating 7-dehydrocholesterol concentration","obsolete":false,"parents":["HP:0034934"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of lathosterol in the blood circulation above the upper limit of normal.","id":"HP:0034936","name":"Elevated circulating lathosterol concentration","obsolete":false,"parents":["HP:0003107"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of desmosterol in the blood circulation above the upper limit of normal.","id":"HP:0034937","name":"Elevated circulating desmosterol concentration","obsolete":false,"parents":["HP:0003107"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of sialic acid in the blood circulation below the lower limit of normal.","id":"HP:0034938","name":"Decreased circulating sialic acid concentration","obsolete":false,"parents":["HP:0020347"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The synovial fluid (also known as synovia, i.e., the fluid found in the cavities of synovial joints) contains increased quantities of white blood cells.","id":"HP:0034939","name":"Purulent synovial fluid","obsolete":false,"parents":["HP:0025850"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of inclusion bodies within the cytoplasm of muscle cells that demonstrate immunoreactivity for calsequestrin 1.","id":"HP:0034940","name":"Muscle fiber calsequestrin 1-containing inclusion bodies","obsolete":false,"parents":["HP:0100299"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A myxoma (A benign tumor composed of myxomatous tissue composed of loosely-arranged spindle, polygonal, and stellate cells) localized to the palate. Clinically, such tumors may present as a sessile nodule on the hard palate.","id":"HP:0034941","name":"Palatine myxoma","obsolete":false,"parents":["HP:0031366"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A myxoma (tumor of primitive connective tissue) localized in the vagina.","id":"HP:0034942","name":"Vaginal myxoma","obsolete":false,"parents":["HP:0100650"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally reduced amount of collagen fibers in the dermis.","id":"HP:0034943","name":"Decreased dermal collagen","obsolete":false,"parents":["HP:0031512"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal shape of keratohyaline granules in dermal keratinocytes.","id":"HP:0034944","name":"Irregularly shaped keratohyaline granules","obsolete":false,"parents":["HP:0033806"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Tubular shadows are characterized by a complete absence of cells in the testicular tubules, meaning that germ cells as well as somatic Sertoli cells are absent. The cells have been replaced by hyalinization.","id":"HP:0034945","name":"Tubular shadows","obsolete":false,"parents":["HP:0000035"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of many apocrine hidrocystoma (cysts) on the margins of the eyelids.","id":"HP:0034946","name":"Multiple eyelid margin cysts","obsolete":false,"parents":["HP:0000492"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multiple eyelid-margin apocrine hidrocystomas"}]} +{"alt_ids":[],"definition":"The fibrous sheath is a structure in the midpiece of the sperm flagellum surrounding the outer dense fibers. It comprises two longitudinal columns and transverse ribs. In case of altered location of the longitudinal column in the fibrous sheath the symmetrical structure is lost, most commonly with the columns not being opposite to each other, which can be visualized by electron microscopy.","id":"HP:0034947","name":"Altered location of the longitudinal column in the fibrous sheath","obsolete":false,"parents":["HP:0012868"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A myxoma (tumor of primitive connective tissue) localized to the uterus.","id":"HP:0034948","name":"Uterine myxoma","obsolete":false,"parents":["HP:0010784"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A myxoma (tumor of primitive connective tissue) localized to the the cervix of the uterus.","id":"HP:0034949","name":"Uterine cervix myxoma","obsolete":false,"parents":["HP:0010784"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Penetrance describes the proportion of genotype positive individuals that develop disease given a lifespan of 80 years. For example, penetrance of Neurofibromatosis type 1 is close to 100%.","id":"HP:0034950","name":"Typified by complete penetrance","obsolete":false,"parents":["HP:0034335"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A rare benign chondroid and osteoid matrix-producing neoplasm of bone characterized by extensive myxoid changes. OMX originate from bony cortices and have been observed in the nasal region, as well as the tibia and radius.","id":"HP:0034951","name":"Osteochondromyxoma","obsolete":false,"parents":["HP:0010622"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A low-grade central nervous system tumor composed of dysplastic ganglion cells, usually presenting in children or young adults and located in the cerebral hemispheres.","id":"HP:0034952","name":"Gangliocytoma","obsolete":false,"parents":["HP:0030693"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A gastrinoma, a neuroendocrine tumors characterized by the secretion of gastrin with resultant excessive gastric acid production, that is localized to the duodenum.","id":"HP:0034953","name":"Duodenal gastrinoma","obsolete":false,"parents":["HP:0100833"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A primary thymic neuroendocrine tumor.","id":"HP:0034954","name":"Thymic carcinoid tumor","obsolete":false,"parents":["HP:0100521"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Count of eosinophils in the bone marrow above the upper limit of normal.","id":"HP:0034955","name":"Bone marrow eosinophilia","obsolete":false,"parents":["HP:0012135"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eosinophils increased in bone marrow"}]} +{"alt_ids":[],"definition":"Applied to a sign or symptom that is worsened by treatment with lithium.","id":"HP:0034956","name":"Exacerbated by lithium exposure","obsolete":false,"parents":["HP:4000176"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of glycogen debrancher enzyme (also known as amylo-1,6-glucosydase, 4-alpha-glucantransferase) in liver tissue below the lower limit of normal.","id":"HP:0034957","name":"Reduced hepatic glycogen debrancher enzyme activity","obsolete":false,"parents":["HP:0034685"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Insertion of the neck and midpiece into the head of a spermatozoon on an axis that diverges from the midline axis of the spermatozoon head. This term applies if the proportion of spermatozoa with this defect is above the upper limit of normal.","id":"HP:0034958","name":"Asymmetrical insertion of the midpiece into the head","obsolete":false,"parents":["HP:0012867"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Asymmetrical insertion of sperm neck"}]} +{"alt_ids":[],"definition":"Sharply angled insertion of the neck and midpiece into the head of a spermatozoon. This term applies if the proportion of spermatozoa with this feature is above the upper limit of normal.","id":"HP:0034959","name":"Bent sperm neck","obsolete":false,"parents":["HP:0012866"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of 3,6-epoxydicarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0034960","name":"Elevated urine 3,6-epoxydicarboxylic acid level","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of biliary sludge (a mixture of particulate solids that have precipitated from bile) in the gallbladder. Such sediment consists of cholesterol crystals, calcium bilirubinate pigment, and other calcium salts. Sludge is usually detected on transabdominal ultrasonography.","id":"HP:0034961","name":"Gallbladder biliary sludging","obsolete":false,"parents":["HP:0012437"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applied to a sign or symptom that is worsened by treatment with amiodarone.","id":"HP:0034962","name":"Exacerbated by amiodarone exposure","obsolete":false,"parents":["HP:4000176"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A swelling or enlargement localized to the ureter. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.","id":"HP:0034963","name":"Ureteral mass","obsolete":false,"parents":["HP:0025633"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Width of the cavum septum pellucidum above the upper limit of normal, which is defined as a separation of greater than one cm of the leaves of the cavum septum pellucidum.","id":"HP:0034964","name":"Wide cavum septum pellucidum","obsolete":false,"parents":["HP:0007375"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of the trochlear nerve, which is the fourth cranial nerve and one of the ocular motor nerves that controls eye movement.","id":"HP:0034965","name":"Hypoplastic trochlear nerve","obsolete":false,"parents":["HP:0001291"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplasia of cranial nerve IV"}]} +{"alt_ids":[],"definition":"A closed sac of tissue (cyst) located in the thymus. Thymic cysts are a rare, benign anomaly, are usually asymptomatic, and mostly occur in the anterior mediastinum .","id":"HP:0034966","name":"Thymic cyst","obsolete":false,"parents":["HP:0000777"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A closed sack of tissue (cyst) located in the uterus.","id":"HP:0034967","name":"Uterine cyst","obsolete":false,"parents":["HP:0031105"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A swelling or enlargement localized to the urinary bladder. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.","id":"HP:0034968","name":"Urinary bladder mass","obsolete":false,"parents":["HP:0025487"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A series of indentations or erosions on a normally smooth margin of the inner layer of the cortex (i.e. the endosteum) of bones.","id":"HP:0034969","name":"Endosteal scalloping","obsolete":false,"parents":["HP:0000940"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the urinary bladder.","id":"HP:0034970","name":"Urinary bladder hamartoma","obsolete":false,"parents":["HP:0009725","HP:0010566"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A swelling or enlargement localized to the peritoneal cavity. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.","id":"HP:0034971","name":"Peritoneal mass","obsolete":false,"parents":["HP:0002585"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A swelling or enlargement localized to the Fallopian tube. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.","id":"HP:0034972","name":"Fallopian tube mass","obsolete":false,"parents":["HP:0011027"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Congenital absence of the pyramids, that is, of the paired structures located at the medial aspect of the ventral medulla that flank the anterior median fissure.","id":"HP:0034973","name":"Aplasia of the pyramids of the medulla oblongata","obsolete":false,"parents":["HP:0011441"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deformity of the posterior skull with bulging of the midportion of the occipital bone that is often associated with a benign variant of the mendosal suture.","id":"HP:0034974","name":"Bathrocephaly","obsolete":false,"parents":["HP:0002683"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Downward pointing exostoses of the occipital bone situated in the tendinous insertions of the sternocleidomastoid and trapezius muscles.","id":"HP:0034975","name":"Occipital horn","obsolete":false,"parents":["HP:0012294"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect characterized by failure to develop of the pituitary stalk. The pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland.","id":"HP:0034976","name":"Absent pituitary stalk","obsolete":false,"parents":["HP:0034977"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland.","id":"HP:0034977","name":"Abnormal pituitary stalk morphology","obsolete":false,"parents":["HP:0000864"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect characterized by a discontinuity of the pituitary stalk. The pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland.","id":"HP:0034978","name":"Interrupted pituitary stalk","obsolete":false,"parents":["HP:0034977"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Unintentional movement in one area of the face produced during intentional movement of another area of the face.","id":"HP:0034979","name":"Facial synkinesis","obsolete":false,"parents":["HP:0034980"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Unintentional movement in one area of the body produced during intentional movement of another area of the body.","id":"HP:0034980","name":"Synkinesis","obsolete":false,"parents":["HP:0100022"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of exposure to birds.","id":"HP:0034981","name":"Exposure to birds","obsolete":false,"parents":["HP:4000110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Loss of sensation to the area of buttocks, perianal space and thighs.","id":"HP:0034982","name":"Perianal anesthesia","obsolete":false,"parents":["HP:0033748"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Instillation of 2.5% phenylephrine drops into the eye does not induce blanching of eye redness. Failure to blanch suggests redness caused by scleral vessel engorgement (e.g., scleritis) or extravascular cause (e.g., hemorrhage), not episcleritis or conjunctivitis.","id":"HP:0034983","name":"Failure of phenylephrine to induce blanching of eye redness","obsolete":false,"parents":["HP:0100533"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Phenylephrine does not induce blanching of eye redness"}]} +{"alt_ids":[],"definition":"A history of exposure during pregnancy of the mother of a fetus or child to ethanol (alcohol).","id":"HP:0034984","name":"Fetal alcohol exposure","obsolete":false,"parents":["HP:0034756"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Alcohol during pregnancy"},{"scope":"EXACT","text":"Alcohol exposure before birth"},{"scope":"EXACT","text":"Alcohol exposure during gestation"},{"scope":"EXACT","text":"Alcohol exposure during pregnancy"},{"scope":"EXACT","text":"Alcohol exposure in pregnancy"},{"scope":"EXACT","text":"Alcohol use during pregnancy"},{"scope":"EXACT","text":"Antenatal ETOH exposure"},{"scope":"EXACT","text":"Antenatal alcohol exposure"},{"scope":"EXACT","text":"Exposure to alcohol during gestation"},{"scope":"EXACT","text":"Exposure to alcohol in the womb"},{"scope":"EXACT","text":"Exposure to alcohol in utero"},{"scope":"EXACT","text":"Prenatal ETOH exposure"},{"scope":"EXACT","text":"Prenatal alcohol exposure"},{"scope":"EXACT","text":"Prenatal exposure to ETOH"},{"scope":"EXACT","text":"Prenatal exposure to alcohol"}]} +{"alt_ids":[],"definition":"Diminished ability of cells to transport cobalamine from the extracellular space to the cytoplasm.","id":"HP:0034985","name":"Reduced cellular cobalamin uptake","obsolete":false,"parents":["HP:0011017"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A localized area of cell death, often accompanied by infiltration of inflammatory cells, in the brainstem.","id":"HP:0034986","name":"Focal necrotic brainstem lesion","obsolete":false,"parents":["HP:0002363"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A localized area of cell death, often accompanied by infiltration of inflammatory cells, in the optic nerve.","id":"HP:0034987","name":"Focal necrotic optic nerve lesion","obsolete":false,"parents":["HP:0000587"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A localized area of cell death, often accompanied by infiltration of inflammatory cells, in the thalamus.","id":"HP:0034988","name":"Focal necrotic thalamus lesion","obsolete":false,"parents":["HP:0010663"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of fluid in the interstitial spaces of the skin. This finding can be appreciated my microscopic examination of a skin biopsy.","id":"HP:0034989","name":"Interstitial dermal edema","obsolete":false,"parents":["HP:0034924"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0034990","name":"Shoulder abduction contracture","obsolete":false,"parents":["HP:0034665"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abduction contracture of the shoulder"}]} +{"alt_ids":[],"definition":"A type of shoulder contracture characterized by decreased internal rotation of shoulder, that is, by a chronic reduction in active and passive ability to internally rotate the humerus at the shoulder joint (if the arm is flexed at the elbow, Internal rotation of the shoulder rotates the forearm towards the center of the body).","id":"HP:0034991","name":"Shoulder external rotation contracture","obsolete":false,"parents":["HP:0034665"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"External rotation contracture of the shoulder joint"}]} +{"alt_ids":[],"definition":"A type of thumb contracture characterized by a chronic reduction in active and passive ability of the metacarpal-phalangeal and/or interphalangeal joints of the thumb to bring from medial side to neutral position, where the neutral position for the thumb is when the distal and proximal segments of the thumb joint are in linear alignment.","id":"HP:0034992","name":"Thumb adduction contracture","obsolete":false,"parents":["HP:0009600"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The inability to rotate the proximal or upper limb segment laterally past anatomic neutral moving away from the midline, when viewed from anteriorly. Anatomic neutral position is defined as the trans-epicondylar axis of the distal humerus (for upper extremity) or femur (for lower extremity) is parallel to the sagittal plane of the body. This type of contracture is characterized by a turning of the knee from a neutral position to one facing more the midline, where the neutral position for the hip is with knee pointing directly anteriorly (less than or equal to 45 degrees).","id":"HP:0034993","name":"Hip internal rotation contracture","obsolete":false,"parents":["HP:0003273"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0034994","name":"obsolete Elevated circulating saccharopine concentration","obsolete":true,"parents":[],"replaced_by":["HP:0034026"],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of fructose-1,6-bisphosphatase (EC 3.1.3.11) below the lower limit of normal. The activity can be measured in multiple tissues including liver and leukocytes.","id":"HP:0034995","name":"Reduced tissue fructose-1,6-bisphosphatase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced hepatic fructose-1,6-bisphosphatase activity"},{"scope":"EXACT","text":"Reduced leukocyte fructose-1,6-bisphosphatase activity"}]} +{"alt_ids":[],"definition":"Activity of carbamoylphosphate synthetase 1 in the liver below the lower limit of normal.","id":"HP:0034996","name":"Reduced hepatic carbamoylphosphate synthetase 1 activity","obsolete":false,"parents":["HP:0034685"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced number of small nerve fibers in the skin.","id":"HP:0034997","name":"Reduced intraepidermal small nerve fiber density","obsolete":false,"parents":["HP:0000759"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect characterized by the presence of a supernumerary femoral artery.","id":"HP:0034998","name":"Femoral artery duplication","obsolete":false,"parents":["HP:0035012"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Collagen VII is the major molecular constituent of anchoring fibrils in the skin. Collagen VII is synthesized as three identical pro-alpha1(VII) polypeptide chains, which are hydroxylated and glycosylated in a coordinated manner and then fold into triple-helical procollagen VII in the endoplasmic reticulum (ER). Mature collagen VII undergoes a multistep fibril polymerization process to form the anchoring fibrils. Mutant pro-alpha1(VII) polypeptide chains or procollagen VII molecules do not pass the ER quality control and are retained in the ER or designated for ubiquitin-proteasome degradation resulting in reduced amounts of collagen VII in the skin.","id":"HP:0034999","name":"Intracellular accumulation of collagen VII","obsolete":false,"parents":["HP:0031512"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Diminished amount of the anchoring fibrils in the basement membrane zone that normally attach the epithelium to the basement membrane.","id":"HP:0035000","name":"Reduced reticular lamina anchoring fibril density","obsolete":false,"parents":["HP:0031512"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Diminished amount of the anchoring filaments that normally bridge the lamina lucida and insert into the lamina densa in the cutaneous basement membrane zone.","id":"HP:0035001","name":"Reduced lamina lucida anchoring filament density","obsolete":false,"parents":["HP:0031512"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Amount of keratin 5 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.","id":"HP:0035002","name":"Reduced epidermal keratin 5 protein expression","obsolete":false,"parents":["HP:0035004"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Amount of keratin 14 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.","id":"HP:0035003","name":"Reduced epidermal keratin 14 protein expression","obsolete":false,"parents":["HP:0035004"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Amount of one or more keratins in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.","id":"HP:0035004","name":"Reduced epidermal keratin protein expression","obsolete":false,"parents":["HP:0034573"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of alanine-glyoxylate aminotransferase in the liver below the lower limit of normal.","id":"HP:0035005","name":"Reduced hepatic alanine-glyoxylate aminotransferase activity","obsolete":false,"parents":["HP:0034685"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of an increased amount of blood in the hepatic capillaries.","id":"HP:0035006","name":"Hepatic sinusoidal dilatation","obsolete":false,"parents":["HP:0030146"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The cross-sectional size (diameter) of the midpiece of the spermatozoon is below the lower limit of normal. This term applies if the proportion of spermatozoa with this defect is above the upper limit of normal.","id":"HP:0035007","name":"Thin spermatozoon midpiece","obsolete":false,"parents":["HP:0012867"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Thin spermatozoon neck"}]} +{"alt_ids":[],"definition":"Increased width of the midpiece of the spermatozoon. The midpiece is the structure that is located between the head and the flagella (tail) of the spermatozoon. This term applies if the width of the midpiece increases progressively from the flagella to the head and if the proportion of individual spermatozoa with this anomaly is above the upper limit of normal.","id":"HP:0035008","name":"Thick spermatozoon midpiece insertion","obsolete":false,"parents":["HP:0012867"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of shoulder contracture characterized by a chronic reduction in the active and passive ability to abduct the shoulder. This results in the shoulders being closer to midline. The affected individual is not able to position the shoulders away from the body.","id":"HP:0035009","name":"Shoulder adduction contracture","obsolete":false,"parents":["HP:0034665"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Adduction contracture of the shoulder"}]} +{"alt_ids":[],"definition":"Exposure to a substance that results from the performance of an employee's duties.","id":"HP:0035010","name":"Occupational exposure history","obsolete":false,"parents":["HP:4000110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A history of exposure to silver that has occurred in relation to performance of job duties.","id":"HP:0035011","name":"Occupational silver exposure","obsolete":false,"parents":["HP:0035010"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural abnormality of the femoral artey, a large blood vessel that provides oxygenated blood to lower extremity structures and in part to the lower anterior abdominal wall.","id":"HP:0035012","name":"Abnormal femoral artery morphology","obsolete":false,"parents":["HP:0011004"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0035013","name":"Abnormal extrahepatic bile duct morphology","obsolete":false,"parents":["HP:0012440"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of fibrous connective tissue (collagen) in the extrahepatic bile ducts.","id":"HP:0035014","name":"Extrahepatic bile duct fibrosis","obsolete":false,"parents":["HP:0035013"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of short-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Short chain acylcarnitines have between two and five carbon atoms in the acyl-chain (C2-C5),","id":"HP:0035015","name":"Elevated circulating short-chain acylcarnitine concentration","obsolete":false,"parents":["HP:0045045"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of C4-acylcarnitine in the blood circulation is above the upper limit of normal.","id":"HP:0035016","name":"Elevated circulating C4-acylcarnitine concentration","obsolete":false,"parents":["HP:0035015"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated C4-acylcarnitine concentration"},{"scope":"EXACT","text":"Elevated C4-acylcarnitine level"},{"scope":"EXACT","text":"Elevated C4-acylcarnitine level in blood"},{"scope":"EXACT","text":"Increased C4-acylcarnitine concentration"},{"scope":"EXACT","text":"Increased C4-acylcarnitine level"},{"scope":"EXACT","text":"Increased C4-acylcarnitine level in blood"}]} +{"alt_ids":[],"definition":"Concentration of medium-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Medium-chain acylcarnitines have between six and twelve carbon atoms in the acyl-chain (C6-C12),","id":"HP:0035017","name":"Elevated circulating medium-chain acylcarnitine concentration","obsolete":false,"parents":["HP:0045045"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of long-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Long-chain acylcarnitines have between thirteen and twenty carbon atoms in the acyl-chain (C13-C20),","id":"HP:0035018","name":"Elevated circulating long-chain acylcarnitine concentration","obsolete":false,"parents":["HP:0045045"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of C5 acylcarnitines in the blood circulation above the upper limit of normal. C5 acylcarnitines have a five-carbon acyl chain.","id":"HP:0035019","name":"Elevated circulating C5 acylcarnitine concentration","obsolete":false,"parents":["HP:0035015"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of C18 acylcarnitines in the blood circulation above the upper limit of normal. C18 acylcarnitines have a eighteen-carbon acyl chain.","id":"HP:0035020","name":"Elevated circulating C18 acylcarnitine concentration","obsolete":false,"parents":["HP:0035018"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of C16 acylcarnitines in the blood circulation above the upper limit of normal. C16 acylcarnitines have a sixteen-carbon acyl chain.","id":"HP:0035021","name":"Elevated circulating C16 acylcarnitine concentration","obsolete":false,"parents":["HP:0035018"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of very long-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Very long-chain acylcarnitines have twentyone or more carbon atoms in the acyl-chain (C21 and higher),","id":"HP:0035022","name":"Elevated circulating very long-chain acylcarnitine concentration","obsolete":false,"parents":["HP:0045045"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of acetylcarnitine (C2 acylcarnitine) in the blood circulation above the upper limit of normal. Acetylcarnitine has a two-carbon acyl chain.","id":"HP:0035023","name":"Elevated circulating acetylcarnitine concentration","obsolete":false,"parents":["HP:0035015"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating C2 acylcarnitine concentration"}]} +{"alt_ids":[],"definition":"Concentration of methylmalonylcarnitine in the blood circulation above the upper limit of normal.","id":"HP:0035024","name":"Elevated circulating methylmalonylcarnitine concentration","obsolete":false,"parents":["HP:0035016"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating C4-DC acylcarnitine concentration"},{"scope":"EXACT","text":"Methylmalonylcarnitine (C4-DC) high in blood"}]} +{"alt_ids":[],"definition":"Concentration of 3-hydroxyhexadecanoylcarnitine in the blood circulation above the upper limit of normal.","id":"HP:0035025","name":"Elevated circulating 3-hydroxyhexadecanoylcarnitine concentration","obsolete":false,"parents":["HP:0035021"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating C16-OH acylcarnitine concentration"}]} +{"alt_ids":[],"definition":"Concentration of C6 acylcarnitines in the blood circulation above the upper limit of normal. C6 acylcarnitines have a six-carbon acyl chain.","id":"HP:0035026","name":"Elevated circulating C6 acylcarnitine concentration","obsolete":false,"parents":["HP:0035017"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of O-methylglutarylcarnitine in the blood circulation is above the upper limit of normal.","id":"HP:0035027","name":"Elevated circulating methylglutarylcarnitine concentration","obsolete":false,"parents":["HP:0035026"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated O-methylglutarylcarnitine concentration"},{"scope":"EXACT","text":"Elevated O-methylglutarylcarnitine level"},{"scope":"EXACT","text":"Elevated O-methylglutarylcarnitine level in blood"},{"scope":"EXACT","text":"Elevated circulating C6-DC acylcarnitine concentration"},{"scope":"EXACT","text":"Increased O-methylglutarylcarnitine concentration"},{"scope":"EXACT","text":"Increased O-methylglutarylcarnitine level"},{"scope":"EXACT","text":"Increased O-methylglutarylcarnitine level in blood"}]} +{"alt_ids":[],"definition":"Concentration of 3-hydroxyisovalerylcarnitine in the blood circulation above the upper limit of normal.","id":"HP:0035028","name":"Elevated circulating 3-hydroxyisovalerylcarnitine concentration","obsolete":false,"parents":["HP:0035019"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating C5-OH acylcarnitine concentration"}]} +{"alt_ids":[],"definition":"Concentration of 3-hydroxyhexanoylcarnitine (C6-OH) in the blood circulation above the upper limit of normal.","id":"HP:0035029","name":"Elevated circulating 3-hydroxyhexanoylcarnitine concentration","obsolete":false,"parents":["HP:0035026"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevating circulating C6-OH acylcarnitine concentration"}]} +{"alt_ids":[],"definition":"The concentration of carnitine in the blood circulation is above the upper limit of normal.","id":"HP:0035030","name":"Elevated circulating carnitine concentration","obsolete":false,"parents":["HP:0010967"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated carnitine concentration"},{"scope":"EXACT","text":"Elevated carnitine level"},{"scope":"EXACT","text":"Elevated carnitine level in blood"},{"scope":"EXACT","text":"Increased carnitine concentration"},{"scope":"EXACT","text":"Increased carnitine level"},{"scope":"EXACT","text":"Increased carnitine level in blood"}]} +{"alt_ids":[],"definition":"Concentration of tiglylcarnitine (C5:1) in the blood circulation above the upper limit of normal.","id":"HP:0035031","name":"Elevated circulating tiglylcarnitine concentration","obsolete":false,"parents":["HP:0035019"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating C5:1 acylcarnitine concentration"}]} +{"alt_ids":[],"definition":"Concentration of acetylcarnitine (C2 acylcarnitine) in the blood circulation below the lower limit of normal. Acetylcarnitine has a two-carbon acyl chain.","id":"HP:0035032","name":"Reduced circulating acetylcarnitine concentration","obsolete":false,"parents":["HP:0033445"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced circulating C2 acylcarnitine concentration"}]} +{"alt_ids":[],"definition":"The concentration of octadecenoylcarnitine (C18:1 acylcarnitine) in the blood circulation is below the lower limit of normal.","id":"HP:0035033","name":"Decreased circulating octadecenoylcarnitine concentration","obsolete":false,"parents":["HP:0033445"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased O-octadecenoylcarnitine concentration"},{"scope":"EXACT","text":"Decreased O-octadecenoylcarnitine level"},{"scope":"EXACT","text":"Decreased O-octadecenoylcarnitine level in blood"},{"scope":"EXACT","text":"Reduced O-octadecenoylcarnitine concentration"},{"scope":"EXACT","text":"Reduced O-octadecenoylcarnitine level"},{"scope":"EXACT","text":"Reduced O-octadecenoylcarnitine level in blood"},{"scope":"EXACT","text":"Reduced circulating C18:1 acylcarnitine concentration"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040004","name":"Abnormality of corneal shape","obsolete":false,"parents":["HP:0000481"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040006","name":"Mortality/Aging","obsolete":false,"parents":["HP:0031797"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lack of skin pigmentation (coloring) of the chest.","id":"HP:0040007","name":"Absent pigmentation of chest","obsolete":false,"parents":["HP:0200098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lack of skin coloring on chest"},{"scope":"EXACT","text":"Lack of skin colouring on chest"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040008","name":"Aplasia of facial bones","obsolete":false,"parents":["HP:0034261"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of facial bones"},{"scope":"EXACT","text":"Agenesis of facial bones"},{"scope":"EXACT","text":"Aplasia of facial skeleton"},{"scope":"EXACT","text":"Failure of development of facial bones"},{"scope":"BROAD","text":"Failure of development of facial skeleton"},{"scope":"NARROW","text":"Missing facial bones"}]} +{"alt_ids":[],"definition":"Histological term to illustrate the combined presence of parakeratosis and hyperkeratosis. Abnormal keratinization of the epidermal stratum corneum (horny layer) with increased keratin formation and preservation of the nuclei in the superficial cells.","id":"HP:0040009","name":"Hyperparakeratosis","obsolete":false,"parents":["HP:0000962","HP:0001036"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Parahyperkeratosis"},{"scope":"EXACT","text":"Parakeratotic hyperkeratosis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040010","name":"Small posterior fossa","obsolete":false,"parents":["HP:0000932"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040011","name":"Flat posterior fossa","obsolete":false,"parents":["HP:0000932"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.","id":"HP:0040012","name":"Chromosome breakage","obsolete":false,"parents":["HP:0003220"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High frequency of chromosome breaks in lymphocytes"},{"scope":"EXACT","text":"Increased chromosomal breakage"},{"scope":"EXACT","text":"Increased chromosomal breakage rate"},{"scope":"EXACT","text":"Multiple chromosomal breaks"},{"scope":"EXACT","text":"Tendency to chromosomal breakage"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040013","name":"Decreased mitochondrial number","obsolete":false,"parents":["HP:0012102"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040014","name":"Increased mitochondrial number","obsolete":false,"parents":["HP:0012102"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040015","name":"Increased activity of mitochondrial respiratory chain","obsolete":false,"parents":["HP:0011922"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040016","name":"Prominent coccyx","obsolete":false,"parents":["HP:0008519"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prominent tailbone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040017","name":"Protruding coccyx","obsolete":false,"parents":["HP:0008519"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Protruding tailbone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040018","name":"Clinodactyly of hallux","obsolete":false,"parents":["HP:0001863","HP:0010051"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Curvature of big toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040019","name":"Finger clinodactyly","obsolete":false,"parents":["HP:0004097","HP:0030084"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Curvature of finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040020","name":"Radial deviation of the 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Toe-walking is common in children who are learning to walk, but most children outgrow it around the age of two years. This term refers to the persistence of toe-walking beyond the usual age.","id":"HP:0040083","name":"obsolete Toe walking","obsolete":true,"parents":[],"replaced_by":["HP:0030051"],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions.","id":"HP:0040084","name":"Abnormal circulating renin concentration","obsolete":false,"parents":["HP:0000847"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal circulating renin"},{"scope":"EXACT","text":"Abnormal plasma renin"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040085","name":"Abnormal circulating aldosterone concentration","obsolete":false,"parents":["HP:0000847"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal circulating aldosterone"},{"scope":"EXACT","text":"Abnormal plasma aldosterone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040086","name":"Abnormal prolactin 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number of lymphocytes"},{"scope":"EXACT","text":"Abnormal numbers of lymphocytes"},{"scope":"EXACT","text":"Abnormality of lymphocyte number"}]} +{"alt_ids":[],"definition":"Abnormal increase or decrease of total natural killer (NK) cells, commonly characterized as CD3-CD19- and CD16+ or CD56+ lymphocytes, in the blood, per microlitre, or altered NK cell phenotype, compared to a reference range for a given sex and age-group, measured ex vivo.","id":"HP:0040089","name":"Abnormal total natural killer cell count","obsolete":false,"parents":["HP:0012176"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal NK cell count"},{"scope":"EXACT","text":"Abnormal number of natural killer cells"},{"scope":"EXACT","text":"Abnormality of natural killer cell count"}]} +{"alt_ids":[],"definition":"Any structural abnormality of the tympanic membrane","id":"HP:0040090","name":"Abnormal tympanic membrane 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morphology","obsolete":true,"parents":[],"replaced_by":["HP:0030999"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040111","name":"obsolete Bilateral external ear deformity","obsolete":true,"parents":[],"replaced_by":["HP:0000377"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040112","name":"Abnormal number of tubercles","obsolete":false,"parents":["HP:0000377"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040113","name":"Old-aged sensorineural hearing impairment","obsolete":false,"parents":["HP:0000407"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Presbycusis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040114","name":"Absence of the reflex of the tensor tympani muscle","obsolete":false,"parents":["HP:0040120"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0040124"],"definition":"A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it protects the middle ear. Inadequate function of the ET causes middle ear ventilation disorders.","id":"HP:0040115","name":"Abnormal Eustachian tube morphology","obsolete":false,"parents":["HP:0000370"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the Eustachian tube"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040116","name":"Aplasia of the Eustachian tube","obsolete":false,"parents":["HP:0040115"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent eustachian tube"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040117","name":"Atresia of the Eustachian tube","obsolete":false,"parents":["HP:0040115"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040118","name":"Stenosis of the Eustachian tube","obsolete":false,"parents":["HP:0040115"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040119","name":"Unilateral conductive hearing impairment","obsolete":false,"parents":["HP:0000405"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040120","name":"Abnormality of the reflex of the tensor tympani muscle","obsolete":false,"parents":["HP:0004454"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation.","id":"HP:0040121","name":"Abnormality of the acoustic reflex","obsolete":false,"parents":["HP:0004454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal auditory reflex"},{"scope":"EXACT","text":"Abnormal middle-ear-muscles (MEM) reflex"},{"scope":"EXACT","text":"Abnormality of stapedial reflex"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040122","name":"Impairment of the the acoustic reflex","obsolete":false,"parents":["HP:0040121"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040123","name":"Impairment of the reflex of the tensor tympani muscle","obsolete":false,"parents":["HP:0040120"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040124","name":"obsolete Patent tuba eustachii","obsolete":true,"parents":[],"replaced_by":["HP:0040115"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040126","name":"obsolete Abnormal circulating vitamin B12 concentration","obsolete":true,"parents":[],"replaced_by":["HP:0004341"],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the composition of sweat or the levels of its components.","id":"HP:0040127","name":"Abnormal sweat homeostasis","obsolete":false,"parents":["HP:0012337"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040128","name":"Abnormal sweat electrolytes","obsolete":false,"parents":["HP:0040127"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040129","name":"Abnormal nerve conduction velocity","obsolete":false,"parents":["HP:0003134"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal nerve conduction"},{"scope":"EXACT","text":"Abnormal nerve conduction velocities"},{"scope":"EXACT","text":"Nerve conduction abnormalities"}]} +{"alt_ids":[],"definition":"The concentration of iron in the blood circulation is outside the limits of normal.","id":"HP:0040130","name":"Abnormal circulating iron concentration","obsolete":false,"parents":["HP:0011031"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal serum iron concentration"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040131","name":"Abnormal motor nerve conduction velocity","obsolete":false,"parents":["HP:0040129"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040132","name":"Abnormal sensory nerve conduction velocity","obsolete":false,"parents":["HP:0040129"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma.","id":"HP:0040133","name":"Abnormal circulating ferritin concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal plasma ferritin"},{"scope":"EXACT","text":"Abnormal serum ferritin"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040134","name":"Abnormal hepatic iron concentration","obsolete":false,"parents":["HP:0034644"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal liver iron concentration"},{"scope":"EXACT","text":"Abnormal liver iron level"}]} +{"alt_ids":[],"definition":"Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity.","id":"HP:0040135","name":"Abnormal transferrin saturation","obsolete":false,"parents":["HP:0011031"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules.","id":"HP:0040137","name":"Comedonal acne","obsolete":false,"parents":["HP:0001061"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Comedogenic acne"}]} +{"alt_ids":[],"definition":"Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone.","id":"HP:0040138","name":"Mucinous histiocytosis","obsolete":false,"parents":["HP:0100727"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Histiocytosis, mucinous"}]} +{"alt_ids":[],"definition":"Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions.","id":"HP:0040139","name":"Lipogranulomatosis","obsolete":false,"parents":["HP:0002955","HP:0004356"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040140","name":"Degeneration of the striatum","obsolete":false,"parents":["HP:0002180","HP:0010994"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040141","name":"Tardive dyskinesia","obsolete":false,"parents":["HP:0100660"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity or concentration of 5-oxoprolinase in the blood circulation below the lower limit of normal. This enzyme catalyzes the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate.","id":"HP:0040142","name":"Reduced circulating 5-oxoprolinase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"5-oxoprolinase deficiency"},{"scope":"EXACT","text":"Reduced 5-oxoprolinase level"}]} +{"alt_ids":[],"definition":"Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus","id":"HP:0040143","name":"Dystopic os odontoideum","obsolete":false,"parents":["HP:0005667"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in the level of L-2-hydroxyglutaric acid in the urine.","id":"HP:0040144","name":"L-2-hydroxyglutaric aciduria","obsolete":false,"parents":["HP:0032278"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of dicarboxylic acid in the blood circulation is above the upper limit of normal.","id":"HP:0040145","name":"Dicarboxylic acidemia","obsolete":false,"parents":["HP:0010995","HP:0032368"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated dicarboxylic acid concentration"},{"scope":"EXACT","text":"Elevated dicarboxylic acid level"},{"scope":"EXACT","text":"Elevated dicarboxylic acid level in blood"},{"scope":"EXACT","text":"Increased dicarboxylic acid concentration"},{"scope":"EXACT","text":"Increased dicarboxylic acid level"},{"scope":"EXACT","text":"Increased dicarboxylic acid level in blood"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040146","name":"D-2-hydroxyglutaric acidemia","obsolete":false,"parents":["HP:0040145"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040147","name":"L-2-hydroxyglutaric acidemia","obsolete":false,"parents":["HP:0040145"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic).","id":"HP:0040148","name":"Cortical myoclonus","obsolete":false,"parents":["HP:0001336"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of wooly hair on the scalp. The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.","id":"HP:0040149","name":"Woolly scalp hair","obsolete":false,"parents":["HP:0002224"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Afro-textured scalp hair"},{"scope":"RELATED","text":"Kinky scalp hair texture"},{"scope":"BROAD","text":"Nappy scalp hair texture"},{"scope":"EXACT","text":"Wooly scalp hair"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040150","name":"Epiblepharon of upper lid","obsolete":false,"parents":["HP:0011225"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040151","name":"Epiblepharon of lower lid","obsolete":false,"parents":["HP:0011225"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses.","id":"HP:0040154","name":"Acne inversa","obsolete":false,"parents":["HP:0001061"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hidradenitis suppurativa"},{"scope":"EXACT","text":"Pyoderma fistulans significa"},{"scope":"EXACT","text":"Smoker's boils"},{"scope":"EXACT","text":"Verneuil's disease"}]} +{"alt_ids":[],"definition":"An increased amount of 3-hydroxybutyric acid in the urine.","id":"HP:0040155","name":"Elevated urinary 3-hydroxybutyric acid","obsolete":false,"parents":["HP:0033303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased amount of carboxylic acid in the urine.","id":"HP:0040156","name":"Elevated urinary carboxylic acid","obsolete":false,"parents":["HP:0001992","HP:0031980"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040157","name":"Abnormal intermamillary distance","obsolete":false,"parents":["HP:0004404"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040158","name":"Short intermamillary distance","obsolete":false,"parents":["HP:0040157"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040159","name":"Abnormal spaced incisors","obsolete":false,"parents":["HP:0011062"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal spaced incisors"},{"scope":"EXACT","text":"Abnormality of spacing of front teeth"},{"scope":"EXACT","text":"Abnormality of spacing of incisors"}]} +{"alt_ids":["HP:0005744"],"definition":null,"id":"HP:0040160","name":"Generalized osteoporosis","obsolete":false,"parents":["HP:0000939"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Generalised osteoporosis"},{"scope":"RELATED","text":"Generalised osteoporosis with pathologic fractures"},{"scope":"RELATED","text":"Generalized osteoporosis with pathologic fractures"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040161","name":"Localized osteoporosis","obsolete":false,"parents":["HP:0000939"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Localised osteoporosis"}]} +{"alt_ids":[],"definition":"Formation of an anuclear keratin layer","id":"HP:0040162","name":"Orthokeratosis","obsolete":false,"parents":["HP:0011368"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040163","name":"Abnormal pelvis bone morphology","obsolete":false,"parents":["HP:0002644"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of pelvis bone"}]} +{"alt_ids":[],"definition":"Fatty tumors on the eyelids.","id":"HP:0040164","name":"Lipomas of eyelids","obsolete":false,"parents":["HP:0000492","HP:0012032"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fatty tumors on the eyelids"},{"scope":"EXACT","text":"Fatty tumours on the eyelids"}]} +{"alt_ids":[],"definition":"Inflammation of the periosteum","id":"HP:0040165","name":"Periostitis","obsolete":false,"parents":["HP:0030313"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Periostalgia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040166","name":"obsolete Abnormality of the periosteum","obsolete":true,"parents":[],"replaced_by":["HP:0030313"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040167","name":"Facial papilloma","obsolete":false,"parents":["HP:0011799","HP:0012740"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Facial verruca"},{"scope":"EXACT","text":"Facial wart"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040168","name":"obsolete Focal seizures, afebril","obsolete":true,"parents":[],"replaced_by":["HP:0007359"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040169","name":"Loose anagen hair","obsolete":false,"parents":["HP:0040170"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040170","name":"Abnormality of hair growth","obsolete":false,"parents":["HP:0001595"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008230"],"definition":null,"id":"HP:0040171","name":"Decreased serum testosterone concentration","obsolete":false,"parents":["HP:0030087","HP:0030349"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased serum testosterone level"},{"scope":"EXACT","text":"Decreased serum testosterone levels"},{"scope":"BROAD","text":"Decreased testosterone"},{"scope":"EXACT","text":"Low serum testosterone level"},{"scope":"EXACT","text":"Low serum testosterone levels"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040172","name":"Abnormality of occipitofrontalis muscle","obsolete":false,"parents":["HP:0003011"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040173","name":"Abnormality of the tongue muscle","obsolete":false,"parents":["HP:0030809","HP:0040286"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of lingual muscle"},{"scope":"EXACT","text":"Abnormality of the tongue muscle"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040174","name":"Abnormality of extrinsic muscle of tongue","obsolete":false,"parents":["HP:0040173"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of extrinsic lingual muscle"}]} +{"alt_ids":[],"definition":"Reduced level of platelet-activating factor acetylhydrolase.","id":"HP:0040175","name":"Platelet-activating factor acetylhydrolase deficiency","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of a phospholipid in the blood circulation.","id":"HP:0040176","name":"Abnormal circulating phospholipid concentration","obsolete":false,"parents":["HP:0003119"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal level of phospholipids"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040177","name":"Abnormal level of platelet-activating factor","obsolete":false,"parents":["HP:0040176"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal level of PAF"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040178","name":"Increased level of platelet-activating factor","obsolete":false,"parents":["HP:0040177"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased level of PAF"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040179","name":"Decreased level of platelet-activating factor","obsolete":false,"parents":["HP:0040177"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased level of PAF"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040180","name":"obsolete Hyperkeratosis pilaris","obsolete":true,"parents":[],"replaced_by":["HP:0032152"],"synonyms":[]} +{"alt_ids":[],"definition":"Cracking, fissuring, and peeling of the skin of the lips.","id":"HP:0040181","name":"Chapped lip","obsolete":false,"parents":["HP:0000159"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chapped lip"},{"scope":"EXACT","text":"Chapped lips"},{"scope":"EXACT","text":"Cheilitis simplex"},{"scope":"EXACT","text":"Common cheilitis"},{"scope":"EXACT","text":"Dry lips"},{"scope":"RELATED","text":"Perioral dermatitis"}]} +{"alt_ids":[],"definition":"Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands.","id":"HP:0040182","name":"Inappropriate sinus tachycardia","obsolete":false,"parents":["HP:0011703"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040183","name":"Encopresis","obsolete":false,"parents":["HP:0002607"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Stool holding"},{"scope":"EXACT","text":"Stool soiling"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040184","name":"obsolete Oral bleeding","obsolete":true,"parents":[],"replaced_by":["HP:0030140"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040185","name":"Macrothrombocytopenia","obsolete":false,"parents":["HP:0001873","HP:0011877"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Macrothrombozytopenia"}]} +{"alt_ids":[],"definition":"A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear.","id":"HP:0040186","name":"Maculopapular exanthema","obsolete":false,"parents":["HP:4000054"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Systemic inflammatory response to infection in newborn babies.","id":"HP:0040187","name":"Neonatal sepsis","obsolete":false,"parents":["HP:0100806"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification.","id":"HP:0040188","name":"Osteochondrosis","obsolete":false,"parents":["HP:0001367","HP:0100323"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.","id":"HP:0040189","name":"Scaling skin","obsolete":false,"parents":["HP:0011124"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Desquamation"},{"scope":"RELATED","text":"Exfoliation"},{"scope":"EXACT","text":"Scaling skin"},{"scope":"EXACT","text":"Scaly skin"},{"scope":"EXACT","text":"flaking skin"},{"scope":"EXACT","text":"peeling skin"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040190","name":"White scaling skin","obsolete":false,"parents":["HP:0040189"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"White scaling skin"},{"scope":"EXACT","text":"White scaly skin"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040191","name":"Rectus femoris muscle atrophy","obsolete":false,"parents":["HP:0009050"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atrophy of the rectus femoris muscles"}]} +{"alt_ids":[],"definition":"An endocrine tumor arising from an APUD cell.","id":"HP:0040192","name":"APUdoma","obsolete":false,"parents":["HP:0100568"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"amine precursor uptake and decarboxylation tumors"},{"scope":"EXACT","text":"amine precursor uptake and decarboxylation tumours"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040193","name":"obsolete Pinealoblastoma","obsolete":true,"parents":[],"replaced_by":["HP:0030408"],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart.","id":"HP:0040194","name":"Increased head circumference","obsolete":false,"parents":["HP:0000240"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased head circumference"}]} +{"alt_ids":[],"definition":"An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean.","id":"HP:0040195","name":"Decreased head circumference","obsolete":false,"parents":["HP:0000240"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased head circumference"}]} +{"alt_ids":[],"definition":"Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD).","id":"HP:0040196","name":"Mild microcephaly","obsolete":false,"parents":["HP:0040195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury.","id":"HP:0040197","name":"Encephalomalacia","obsolete":false,"parents":["HP:0002060"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cerebral softening"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040198","name":"Non-medullary thyroid carcinoma","obsolete":false,"parents":["HP:0002890"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nonmedullary thyroid carcinoma"},{"scope":"EXACT","text":"Thyroid cancer, nonmedullary"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040199","name":"obsolete Flat midface","obsolete":true,"parents":[],"replaced_by":["HP:0011800"],"synonyms":[]} +{"alt_ids":[],"definition":"The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts.","id":"HP:0040200","name":"Motor impersistence","obsolete":false,"parents":["HP:0011443"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Negative chorea"}]} +{"alt_ids":[],"definition":"A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue.","id":"HP:0040201","name":"Simultanapraxia","obsolete":false,"parents":["HP:0040200"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Recurrent abnormal consumption of food, liquids, or objects that could have negative consequences for the individual.","id":"HP:0040202","name":"Abnormal consumption behavior","obsolete":false,"parents":["HP:5200241"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal consumption behaviour"}]} +{"alt_ids":[],"definition":"Abnormal concentration of neopterin in the cerebrospinal fluid (CSF).","id":"HP:0040203","name":"Abnormal CSF neopterin concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal CSF neopterin level"}]} +{"alt_ids":[],"definition":"Increased concentration of neopterin in the cerebrospinal fluid (CSF).","id":"HP:0040204","name":"Elevated CSF neopterin level","obsolete":false,"parents":["HP:0040203"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased concentration of neopterin in the cerebrospinal fluid (CSF).","id":"HP:0040205","name":"Decreased CSF neopterin level","obsolete":false,"parents":["HP:0040203"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of neopterin in the blood circulation.","id":"HP:0040206","name":"Abnormal circulating neopterin concentration","obsolete":false,"parents":["HP:0004364"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal concentration of a pterin in the cerebrospinal fluid (CSF).","id":"HP:0040207","name":"Abnormal CSF pterin concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal CSF biopterin level"},{"scope":"EXACT","text":"Abnormal cerebrospinal fluid biopterin level"}]} +{"alt_ids":[],"definition":"Concentration of biopterin in the cerebrospinal fluid (CSF) above the upper limit of normal.","id":"HP:0040208","name":"Elevated CSF biopterin level","obsolete":false,"parents":["HP:0040207"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of biopterin in the cerebrospinal fluid (CSF) below the lower limit of normal.","id":"HP:0040209","name":"Decreased CSF biopterin level","obsolete":false,"parents":["HP:0040207"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased cerebrospinal fluid biopterin level"}]} +{"alt_ids":[],"definition":"A deviation from the normal concentration of biopterin in the blood circulation.","id":"HP:0040210","name":"Abnormal circulating biopterin concentration","obsolete":false,"parents":["HP:0004364"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the skin of the palm, that is, the skin of the front of the hand.","id":"HP:0040211","name":"Abnormal skin morphology of the palm","obsolete":false,"parents":["HP:0011356","HP:0100871"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles.","id":"HP:0040212","name":"Risus sardonicus","obsolete":false,"parents":["HP:0005324"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rictus grin"}]} +{"alt_ids":[],"definition":"Hypopnea is referring to breathing that is abnormally shallow.","id":"HP:0040213","name":"Hypopnea","obsolete":false,"parents":["HP:0002793"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Shallow breathing"}]} +{"alt_ids":["HP:0040215"],"definition":"An abnormal concentration of insulin in the body.","id":"HP:0040214","name":"Abnormal circulating insulin concentration","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal insulin level"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040215","name":"obsolete Abnormal circulating insulin level","obsolete":true,"parents":[],"replaced_by":["HP:0040214"],"synonyms":[]} +{"alt_ids":[],"definition":"A decreased concentration of insulin in the blood.","id":"HP:0040216","name":"Hypoinsulinemia","obsolete":false,"parents":["HP:0040214"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.","id":"HP:0040217","name":"Elevated hemoglobin A1c","obsolete":false,"parents":["HP:0011902"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated HbA1c"},{"scope":"EXACT","text":"Elevated glycated haemoglobin"},{"scope":"EXACT","text":"Elevated glycated hemoglobin"},{"scope":"EXACT","text":"Elevated glycosylated haemoglobin"},{"scope":"EXACT","text":"Elevated glycosylated hemoglobin"},{"scope":"EXACT","text":"Elevated haemoglobin A1c"},{"scope":"EXACT","text":"Increased HbA1c levels"}]} +{"alt_ids":[],"definition":"The absolute count of natural killer cells in the blood, per microlitre, is below the lower limit of normal.","id":"HP:0040218","name":"Reduced total natural killer cell count","obsolete":false,"parents":["HP:0040089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced NK cell number"},{"scope":"EXACT","text":"Reduced natural killer cell number"}]} +{"alt_ids":[],"definition":"Absence of detectable circulating NK cells, commonly characterized as CD3-CD19- and CD16+ or CD56+ lymphocytes, in the blood. Usually, less than 20 cells per microlitre is considered to be an absence.","id":"HP:0040219","name":"Absent natural killer cells","obsolete":false,"parents":["HP:0040089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent NK cells"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040220","name":"Abnormal size of the dental root","obsolete":false,"parents":["HP:0006486"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040221","name":"Hypoplasia of the dental root","obsolete":false,"parents":["HP:0040220"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased tendency towards thrombosis in the mother during a pregnancy.","id":"HP:0040222","name":"Maternal thrombophilia","obsolete":false,"parents":["HP:0002686"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease.","id":"HP:0040223","name":"Pulmonary hemorrhage","obsolete":false,"parents":["HP:0002088","HP:0011029"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intrapulmonary haemorrhage"},{"scope":"EXACT","text":"Intrapulmonary hemorrhage"},{"scope":"EXACT","text":"Pulmonary haemorrhage"}]} +{"alt_ids":[],"definition":"Clinical phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis)","id":"HP:0040224","name":"Abnormality of fibrinolysis","obsolete":false,"parents":["HP:0001928"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the fibrinolytic system"}]} +{"alt_ids":[],"definition":"A decrease in high molecular weight von Willebrand factor multimers.","id":"HP:0040225","name":"Decrease in high molecular weight von Willebrand factor Multimers","obsolete":false,"parents":["HP:0030131"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decrease in HMW VWF multimers"}]} +{"alt_ids":[],"definition":"An abnormality of coagulation related to a decreased concentration of heparin co-factor II","id":"HP:0040226","name":"Decreased level of heparin co-factor II","obsolete":false,"parents":["HP:0010990"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Heparin co-factor II deficiency"}]} +{"alt_ids":[],"definition":"Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation","id":"HP:0040227","name":"Decreased level of histidine-rich glycoprotein","obsolete":false,"parents":["HP:0010990"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of plasminogen in the blood circulation is below the lower limit of normal.","id":"HP:0040228","name":"Decreased circulating plasminogen concentration","obsolete":false,"parents":["HP:0010990","HP:0032312"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased plasminogen concentration"},{"scope":"EXACT","text":"Decreased plasminogen level"},{"scope":"EXACT","text":"Decreased plasminogen level in blood"},{"scope":"EXACT","text":"Hypoplasminogenemia"},{"scope":"EXACT","text":"Reduced plasminogen concentration"},{"scope":"EXACT","text":"Reduced plasminogen level"},{"scope":"EXACT","text":"Reduced plasminogen level in blood"}]} +{"alt_ids":[],"definition":"Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot","id":"HP:0040229","name":"Decreased level of thrombomodulin","obsolete":false,"parents":["HP:0010990"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"BDCA-3"}]} +{"alt_ids":[],"definition":"The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis","id":"HP:0040230","name":"Decreased level of tissue plasminogen activator","obsolete":false,"parents":["HP:0010990"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased level of tPA"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040231","name":"Abnormal onset of bleeding","obsolete":false,"parents":["HP:0001892"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours.","id":"HP:0040232","name":"Delayed onset bleeding","obsolete":false,"parents":["HP:0040231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.","id":"HP:0040233","name":"Factor XIII subunit A deficiency","obsolete":false,"parents":["HP:0008357"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced factor XIII, subunit A"}]} +{"alt_ids":[],"definition":"Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.","id":"HP:0040234","name":"Factor XIII subunit B deficiency","obsolete":false,"parents":["HP:0008357"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced factor XIII, subunit B"}]} +{"alt_ids":[],"definition":"The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes.","id":"HP:0040235","name":"Leukocyte inclusion bodies","obsolete":false,"parents":["HP:0008264"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dohle-like leukocyte inclusion bodies"},{"scope":"EXACT","text":"Inclusion bodies in leukocytes"}]} +{"alt_ids":[],"definition":"Increased degradation of fibrin, associated with clot instability and bleeding","id":"HP:0040236","name":"Hyperfibrinolysis","obsolete":false,"parents":["HP:0040224"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay.","id":"HP:0040237","name":"Impaired binding of factor VIII to VWF","obsolete":false,"parents":["HP:0012146"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"von Willebrand Disease Type II Normandy"}]} +{"alt_ids":[],"definition":"An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response","id":"HP:0040238","name":"Impaired neutrophil chemotaxis","obsolete":false,"parents":["HP:0005400"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neutrophil migratory defect"}]} +{"alt_ids":[],"definition":"Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1.","id":"HP:0040239","name":"Increased plasma vitamin K epoxide after vitamin K supplementation","obsolete":false,"parents":["HP:0010990"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA.","id":"HP:0040240","name":"Increased ratio of VWF propeptide to VWF antigen","obsolete":false,"parents":["HP:0012146"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased platelet agglutination in response to low-dose ristocetin","id":"HP:0040241","name":"Increased RIPA","obsolete":false,"parents":["HP:0030402"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bleeding occurring within a muscle","id":"HP:0040242","name":"Muscle hemorrhage","obsolete":false,"parents":["HP:0011029","HP:0011805"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Intramuscular haemorrhage"},{"scope":"EXACT","text":"Intramuscular hemorrhage"},{"scope":"EXACT","text":"Muscle haemorrhage"}]} +{"alt_ids":[],"definition":"Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.","id":"HP:0040243","name":"Prolonged euglobulin clot lysis time","obsolete":false,"parents":["HP:0040224"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased time to coagulation in the Russell's viper venom assay","id":"HP:0040244","name":"Prolonged Russell's viper venom time","obsolete":false,"parents":["HP:0010990"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis.","id":"HP:0040245","name":"Reduced alpha-2-antiplasmin activity","obsolete":false,"parents":["HP:0010990"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation.","id":"HP:0040246","name":"Reduced antithrombin antigen","obsolete":false,"parents":["HP:0010990"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.","id":"HP:0040247","name":"Reduced euglobulin clot lysis time","obsolete":false,"parents":["HP:0040224"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator.","id":"HP:0040248","name":"Reduced plasminogen activator inhibitor 1 activity","obsolete":false,"parents":["HP:0430126"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced level of plasminogen activator inhibitor 1 antigen.","id":"HP:0040249","name":"Reduced plasminogen activator inhibitor 1 antigen","obsolete":false,"parents":["HP:0430126"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin.","id":"HP:0040250","name":"Reduced prothrombin antigen","obsolete":false,"parents":["HP:0012200"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand.","id":"HP:0040251","name":"Hand dimple","obsolete":false,"parents":["HP:0010781"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hand dimples"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040252","name":"Abnormal size of the clitoris","obsolete":false,"parents":["HP:0000056"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040253","name":"Increased size of the clitoris","obsolete":false,"parents":["HP:0040252"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040254","name":"Decreased size of the clitoris","obsolete":false,"parents":["HP:0040252"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040255","name":"Aplasia/Hypoplasia of the clitoris","obsolete":false,"parents":["HP:0000056"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the nasopharyngeal adenoids.","id":"HP:0040256","name":"Aplastic/Hypoplastic nasopharyngeal adenoids","obsolete":false,"parents":["HP:3000033"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Adenoids small or absent"}]} +{"alt_ids":[],"definition":"A deviation in the size of nasopharyngeal adenoids.","id":"HP:0040257","name":"Abnormal size of nasopharyngeal adenoids","obsolete":false,"parents":["HP:3000033"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of the nasopharyngeal adenoids.","id":"HP:0040258","name":"Hypoplastic nasopharyngeal adenoids","obsolete":false,"parents":["HP:0040256","HP:0040260"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Underdeveloped nasopharyngeal adenoids"}]} +{"alt_ids":[],"definition":"Absence of the nasopharyngeal adenoids as a developmental defect.","id":"HP:0040259","name":"Aplastic nasopharyngeal adenoids","obsolete":false,"parents":["HP:0040256"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal decrease in the size of nasopharyngeal adenoids.","id":"HP:0040260","name":"Decreased size of nasopharyngeal adenoids","obsolete":false,"parents":["HP:0040257"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal increase in the size of nasopharyngeal adenoids.","id":"HP:0040261","name":"Increased size of nasopharyngeal adenoids","obsolete":false,"parents":["HP:0040257"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Adenoid hypertrophy"},{"scope":"RELATED","text":"Adenoids large"}]} +{"alt_ids":[],"definition":"Middle ear is filled with glue-like fluid instead of air.","id":"HP:0040262","name":"Glue ear","obsolete":false,"parents":["HP:0000388"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040263","name":"obsolete Jaw ankylosis","obsolete":true,"parents":[],"replaced_by":["HP:0012478"],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw.","id":"HP:0040264","name":"Jaw pain","obsolete":false,"parents":["HP:0012531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Jaw pain"}]} +{"alt_ids":[],"definition":"Abnormal increase in muscle size and mass of one or both arms not due to training.","id":"HP:0040265","name":"Upper limb muscle hypertrophy","obsolete":false,"parents":["HP:0001446","HP:0003712"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040266","name":"Proximal upper limb muscle hypertrophy","obsolete":false,"parents":["HP:0040265"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040267","name":"Distal upper limb muscle hypertrophy","obsolete":false,"parents":["HP:0040265"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040268","name":"obsolete Recurrent infections of the middle ear","obsolete":true,"parents":[],"replaced_by":["HP:0000403"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040269","name":"Blocked Eustachian tube","obsolete":false,"parents":["HP:0040115"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Obstruction of Eustachian tube"}]} +{"alt_ids":[],"definition":"An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.","id":"HP:0040270","name":"Impaired glucose tolerance","obsolete":false,"parents":["HP:0001952"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased glucose tolerance"},{"scope":"EXACT","text":"Glucose tolerance decreased"}]} +{"alt_ids":[],"definition":"A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord.","id":"HP:0040272","name":"Hyperintensity of MRI T2 signal of the spinal cord","obsolete":false,"parents":["HP:0002143"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A malignant epithelial tumor with a glandular organization that originates in the intestines.","id":"HP:0040273","name":"Adenocarcinoma of the intestines","obsolete":false,"parents":["HP:0002672"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A malignant epithelial tumor with a glandular organization that originates in the small intestine.","id":"HP:0040274","name":"Adenocarcinoma of the small intestine","obsolete":false,"parents":["HP:0040273","HP:0100833"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A malignant epithelial tumor with a glandular organization that originates in the large intestine.","id":"HP:0040275","name":"Adenocarcinoma of the large intestine","obsolete":false,"parents":["HP:0040273","HP:0100834"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040276","name":"Adenocarcinoma of the colon","obsolete":false,"parents":["HP:0040275","HP:0100273"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040277","name":"Neoplasm of the pituitary gland","obsolete":false,"parents":["HP:0012503","HP:0100568"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040278","name":"obsolete Prolactinoma","obsolete":true,"parents":[],"replaced_by":["HP:0006767"],"synonyms":[]} +{"alt_ids":[],"definition":"Class to represent frequency of phenotypic abnormalities within a patient cohort.","id":"HP:0040279","name":"Frequency","obsolete":false,"parents":["HP:0000001"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Always present, i.e. in 100% of the cases.","id":"HP:0040280","name":"Obligate","obsolete":false,"parents":["HP:0040279"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Obligate (100%)"}]} +{"alt_ids":[],"definition":"Present in 80% to 99% of the cases.","id":"HP:0040281","name":"Very frequent","obsolete":false,"parents":["HP:0040279"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Very frequent (99-80%)"}]} +{"alt_ids":[],"definition":"Present in 30% to 79% of the cases.","id":"HP:0040282","name":"Frequent","obsolete":false,"parents":["HP:0040279"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Frequent (79-30%)"}]} +{"alt_ids":[],"definition":"Present in 5% to 29% of the cases.","id":"HP:0040283","name":"Occasional","obsolete":false,"parents":["HP:0040279"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Occasional (29-5%)"}]} +{"alt_ids":[],"definition":"Present in 1% to 4% of the cases.","id":"HP:0040284","name":"Very rare","obsolete":false,"parents":["HP:0040279"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Very rare (<4-1%)"},{"scope":"EXACT","text":"Very rare (<4-1%)"}]} +{"alt_ids":[],"definition":"Present in 0% of the cases.","id":"HP:0040285","name":"Excluded","obsolete":false,"parents":["HP:0040279"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excluded (0%)"}]} +{"alt_ids":[],"definition":"A structural anomaly of the axial musculature, comprising muscles of the head and neck, muscles of the vertebral column, muscles of the thoracic wall, muscles of the abdominal wall, and muscles of the pelvic floor.","id":"HP:0040286","name":"Abnormal axial muscle morphology","obsolete":false,"parents":["HP:0011805"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of axial muscles"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040287","name":"Axial muscle atrophy","obsolete":false,"parents":["HP:0040286"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food.","id":"HP:0040288","name":"Nasogastric tube feeding","obsolete":false,"parents":["HP:0033454"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, which occurs cyclically and then recovers without intervention.","id":"HP:0040289","name":"Cyclically decreased total neutrophil count","obsolete":false,"parents":["HP:0001875"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CyN"},{"scope":"EXACT","text":"Cyclic neutropenia"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040290","name":"obsolete Abnormality of skeletal muscles","obsolete":true,"parents":[],"replaced_by":["HP:0003011"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040291","name":"obsolete Skeletal muscle steatosis","obsolete":true,"parents":[],"replaced_by":["HP:0012548"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040292","name":"Left hemiplegia","obsolete":false,"parents":["HP:0002301"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hemiplegia (left)"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040293","name":"Right hemiplegia","obsolete":false,"parents":["HP:0002301"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hemiplegia (right)"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040294","name":"Duplicated tongue","obsolete":false,"parents":["HP:0030809"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplication of tongue"},{"scope":"EXACT","text":"Tongue duplicated"},{"scope":"EXACT","text":"Tongue duplication"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040295","name":"Duplication of the upper lip","obsolete":false,"parents":["HP:0000177"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Double upper lip"}]} +{"alt_ids":[],"definition":"Anomalous anatomical placement of the eyebrow.","id":"HP:0040296","name":"Abnormal location of the eyebrow","obsolete":false,"parents":["HP:0000534"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal location of eyebrows"},{"scope":"EXACT","text":"Abnormally placed eyebrows"}]} +{"alt_ids":[],"definition":"Preauricular sinus is an occasional finding and most frequently appears as a small pit close to the anterior margin of the ascending portion of the helix. The opening has also been reported along the postero superior margin of the helix, the tragus or the lobule. Preauricular sinus may lead to the formation of a subcutaneous cyst that is intimately related to the tragal cartilage and the anterior crus of the helix.","id":"HP:0040297","name":"Preauricular cyst","obsolete":false,"parents":["HP:0000383"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040298","name":"Hyperplasia of the endometrium","obsolete":false,"parents":["HP:0030126"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperplastic endometrium"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040299","name":"Decreased circulating free fatty acid level","obsolete":false,"parents":["HP:0040300"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low fatty acids level"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of a free fatty acid in the blood circulation.","id":"HP:0040300","name":"Abnormal circulating free fatty acid concentration","obsolete":false,"parents":["HP:0004359"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal circulating free fatty acid level"}]} +{"alt_ids":[],"definition":"An increased concentration of glycerol in the urine.","id":"HP:0040301","name":"Increased urinary glycerol","obsolete":false,"parents":["HP:0031979"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of glycerol in the blood circulation is above the upper limit of normal.","id":"HP:0040302","name":"Hyperglycerolemia","obsolete":false,"parents":["HP:0031795"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated glycerol concentration"},{"scope":"EXACT","text":"Elevated glycerol level"},{"scope":"EXACT","text":"Elevated glycerol level in blood"},{"scope":"EXACT","text":"Increased glycerol concentration"},{"scope":"EXACT","text":"Increased glycerol level"},{"scope":"EXACT","text":"Increased glycerol level in blood"},{"scope":"RELATED","text":"Pseudohypertriglyceridemia"}]} +{"alt_ids":[],"definition":"The concentration of iron cation in the blood circulation is below the lower limit of normal.","id":"HP:0040303","name":"Decreased circulating iron concentration","obsolete":false,"parents":["HP:0040130"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased iron cation concentration"},{"scope":"EXACT","text":"Decreased iron cation level"},{"scope":"EXACT","text":"Decreased iron cation level in blood"},{"scope":"EXACT","text":"Decreased serum iron"},{"scope":"EXACT","text":"Hypoferremia"},{"scope":"EXACT","text":"Low serum iron"},{"scope":"EXACT","text":"Reduced iron cation concentration"},{"scope":"EXACT","text":"Reduced iron cation level"},{"scope":"EXACT","text":"Reduced iron cation level in blood"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040304","name":"Duplication of the sella turcica","obsolete":false,"parents":["HP:0002679"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duplicate sella turcica"},{"scope":"EXACT","text":"Duplicated sella turcica"}]} +{"alt_ids":[],"definition":"Increased desire for sexual activity on the part of a male.","id":"HP:0040305","name":"Increased male libido","obsolete":false,"parents":["HP:0040307","HP:0046503"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced desire for sexual activity on the part of a male.","id":"HP:0040306","name":"Decreased male libido","obsolete":false,"parents":["HP:0040307","HP:0046504"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity","id":"HP:0040307","name":"Male sexual dysfunction","obsolete":false,"parents":["HP:0012874"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inability of a male to reach orgasm.","id":"HP:0040308","name":"Male anorgasmia","obsolete":false,"parents":["HP:0040307","HP:0046502"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040309","name":"Increased size of the mandible","obsolete":false,"parents":["HP:0000277"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Large jaw"}]} +{"alt_ids":[],"definition":"An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures.","id":"HP:0040310","name":"Sterile arthritis","obsolete":false,"parents":["HP:0001369"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Polyarthritis refers to a joint disease that involves at least five joints. One or more signs of inflammation, including pain, movement restriction, swelling, warmth, and redness, are seen in the joints involved. Polyarthritis is defined as symmetric if at least half of the joints involved are affected in a symmetric (i.e., both right and the left) fashion.","id":"HP:0040311","name":"Symmetric polyarthritis","obsolete":false,"parents":["HP:0001369"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040312","name":"Temporomandibular arthritis","obsolete":false,"parents":["HP:0001369"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Arthritis of temporomandibular joint"}]} +{"alt_ids":[],"definition":"A type of arthritis that affects up to four joints in the first six months of disease.","id":"HP:0040313","name":"Oligoarthritis","obsolete":false,"parents":["HP:0001369"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia.","id":"HP:0040314","name":"Blind vagina","obsolete":false,"parents":["HP:0000142"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blind-ended vagina"}]} +{"alt_ids":[],"definition":"An abnormal accumulation of fluid and swelling in the tongue.","id":"HP:0040315","name":"Tongue edema","obsolete":false,"parents":["HP:0000157","HP:0000969"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tongue oedema"}]} +{"alt_ids":[],"definition":null,"id":"HP:0040316","name":"obsolete Aplasia of the penis","obsolete":true,"parents":[],"replaced_by":["HP:0030261"],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal blue color of the urine.","id":"HP:0040317","name":"Blue urine","obsolete":false,"parents":["HP:0012086"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal red color of the urine.","id":"HP:0040318","name":"Red urine","obsolete":false,"parents":["HP:0012086"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal dark color of the urine.","id":"HP:0040319","name":"Dark urine","obsolete":false,"parents":["HP:0012086"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal red-brown color of the urine.","id":"HP:0040320","name":"Red-brown urine","obsolete":false,"parents":["HP:0012086"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"red brown urine"}]} +{"alt_ids":[],"definition":"An abnormal dark-yellow color of the urine.","id":"HP:0040321","name":"Dark yellow urine","obsolete":false,"parents":["HP:0012086"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal purple color of the urine.","id":"HP:0040322","name":"Purple urine","obsolete":false,"parents":["HP:0012086"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin.","id":"HP:0040323","name":"Eyelid erythema","obsolete":false,"parents":["HP:0000492","HP:0010783"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Erythema of eyelid"},{"scope":"EXACT","text":"Erythema of the eyelids"},{"scope":"EXACT","text":"Red eyelid"}]} +{"alt_ids":[],"definition":"In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower.","id":"HP:0040324","name":"Heliotrope rash","obsolete":false,"parents":["HP:0000988"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Heliotrope erythema"}]} +{"alt_ids":[],"definition":"A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings.","id":"HP:0040325","name":"Bull's eye rash","obsolete":false,"parents":["HP:0000988"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of the olfactory bulb.","id":"HP:0040326","name":"Hypoplasia of the olfactory bulb","obsolete":false,"parents":["HP:0002977","HP:0040327"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplasia of olfactory bulb"},{"scope":"EXACT","text":"Hypoplastic olfactory bulb"}]} +{"alt_ids":[],"definition":"An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell.","id":"HP:0040327","name":"Abnormal morphology of the olfactory bulb","obsolete":false,"parents":["HP:0100547"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal area of increased brightness (hyperintensity) that is limited to one particular area.","id":"HP:0040328","name":"Focal hyperintensity of cerebral white matter on MRI","obsolete":false,"parents":["HP:0007042","HP:0030890"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas.","id":"HP:0040329","name":"Multifocal hyperintensity of cerebral white matter on MRI","obsolete":false,"parents":["HP:0007052","HP:0030890"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together.","id":"HP:0040330","name":"Confluent hyperintensity of cerebral white matter on MRI","obsolete":false,"parents":["HP:0007204","HP:0030890"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040331","name":"Focal hypointensity of cerebral white matter on MRI","obsolete":false,"parents":["HP:0007042","HP:0007103"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040332","name":"Multifocal hypointensity of cerebral white matter on MRI","obsolete":false,"parents":["HP:0007052","HP:0007103"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040333","name":"Confluent hypointensity of cerebral white matter on MRI","obsolete":false,"parents":["HP:0007103","HP:0007204"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Chronic rhinitis accompanied by pus formation.","id":"HP:0040334","name":"Purulent rhinitis","obsolete":false,"parents":["HP:0002257"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is distributed around the nipples or located in the nipples.","id":"HP:0040402","name":"Nipple localization","obsolete":false,"parents":["HP:0012838"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The term breast microcalcification is used to define calcium deposits in the breast with a diameter of less than 1 mm.","id":"HP:0040403","name":"Breast microcalcification","obsolete":false,"parents":["HP:0031093"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Microcalcifications of the breast"}]} +{"alt_ids":[],"definition":"Architectural distortion is defined as an architectural disruption of the normal breast that does not have obvious mass opacities, which may be early signs of breast carcinoma.","id":"HP:0040404","name":"Architectural distortion of breast","obsolete":false,"parents":["HP:0031093"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Thickening of the skin around the nipple with a distribution that is not equal on all sides.","id":"HP:0040405","name":"Asymmetric thickening of the nipple-areolar complex","obsolete":false,"parents":["HP:0031093"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Perimenopause, or the menopausal transition, encompasses that period of time during which physiologic changes mark progression toward a woman's final menstrual period. This phase begins with the onset of menstrual irregularities and continues until a woman reaches menopause, or one year after amenorrhea has occurred. Perimenopause can last for a variable amount of time, the median of which is four years.","id":"HP:0040406","name":"Perimenopausal","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Mastitis is defined as an inflammation of the breast and may or may not be accompanied by infection.","id":"HP:0040407","name":"Mastitis","obsolete":false,"parents":["HP:0031093"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by menopause.","id":"HP:0040408","name":"Ameliorated by menopause","obsolete":false,"parents":["HP:0025254"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Yielding to alternate pressure by palpating fingers so as to suggest that the area being felt contains fluid.","id":"HP:0040409","name":"Fluctuance on palpation","obsolete":false,"parents":["HP:0012823"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A medical history of having undergone a vasectomy prior to the current presentation.","id":"HP:0040410","name":"History of vasectomy","obsolete":false,"parents":["HP:0430103"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the penis.","id":"HP:0040411","name":"Pain in penis","obsolete":false,"parents":["HP:0012531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Penile pain"}]} +{"alt_ids":[],"definition":"A blood clot (thrombus) localized in the left ventricle. Left ventricular thrombus is a serious complication of acute myocardial infarction and also of non-ischemic cardiomyopathies.","id":"HP:0040412","name":"Left ventricular thrombus","obsolete":false,"parents":["HP:0001711","HP:0001977"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0040413","name":"Atrophic vaginal mucosa","obsolete":false,"parents":["HP:0000142"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of ascites characterized by copious amounts of mucinous ascites and mucinous peritoneal implants, leading to progressive obliteration of the peritoneal cavity and intestinal obstruction.","id":"HP:0040414","name":"Gelatinous ascites","obsolete":false,"parents":["HP:0001541"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Breast tissue with a lumpy or ropelike texture.","id":"HP:0040415","name":"Diffuse breast nodularity","obsolete":false,"parents":["HP:0031093"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of a nitrogen compound in the urine, normalized for urine concentration, is outside of normal limits.","id":"HP:0040416","name":"Abnormal urinary nitrogen compound level","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of biopterin in the urine, normalized for urine concentration, is below the lower limit of normal.","id":"HP:0040417","name":"Decreased urinary biopterin level","obsolete":false,"parents":["HP:0040416"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of guanidinoacetic acid in the urine, normalized for urine concentration, is outside normal limits.","id":"HP:0040418","name":"Abnormal urine guanidinoacetic acid level","obsolete":false,"parents":["HP:0033097"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of guanidinoacetic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0040419","name":"Elevated urine guanidinoacetic acid level","obsolete":false,"parents":["HP:0040418"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of neopterin in the urine, normalized for urine concentration, is below the lower limit of normal.","id":"HP:0040420","name":"Decreased urinary neopterin level","obsolete":false,"parents":["HP:0040416"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of inosine in the urine, normalized for urine concentration, is outside the limits of normal.","id":"HP:0040421","name":"Abnormal urinary inosine level","obsolete":false,"parents":["HP:0033161"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of inosine in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0040422","name":"Elevated urinary inosine level","obsolete":false,"parents":["HP:0040421"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of guanosine in the urine, normalized for urine concentration, is outside the limits of normal.","id":"HP:0040423","name":"Abnormal urinary guanosine level","obsolete":false,"parents":["HP:0033161"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of guanosine in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0040424","name":"Elevated urinary guanosine level","obsolete":false,"parents":["HP:0040423"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of hypoxanthine in the urine, normalized for urine concentration, is outside of normal limits.","id":"HP:0040425","name":"Abnormal urinary hypoxanthine level","obsolete":false,"parents":["HP:0033161"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of hypoxanthine in the urine, normalized for urine concentration, is below the lower limit of normal.","id":"HP:0040426","name":"Decreased urinary hypoxanthine level","obsolete":false,"parents":["HP:0040425"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production.","id":"HP:0041042","name":"Absent neutrophil lactoferrin","obsolete":false,"parents":["HP:0012551"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation.","id":"HP:0041043","name":"Neutrophil nuclear clefts","obsolete":false,"parents":["HP:0410310"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme.","id":"HP:0041044","name":"Low neutrophil alkaline phosphatase","obsolete":false,"parents":["HP:0003282"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased number of mitochondria detected in neutrophils.","id":"HP:0041045","name":"Increased neutrophil mitochondria","obsolete":false,"parents":["HP:0011992"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased number of ribosomes detected in neutrophils.","id":"HP:0041046","name":"Increased neutrophil ribosomes","obsolete":false,"parents":["HP:0011992"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A compression or resistance upon the bladder outflow channel at any location from the bladder neck to urethral meatus, which usually causes lower urinary tract symptoms (LUTS).","id":"HP:0041047","name":"Bladder outlet obstruction","obsolete":false,"parents":["HP:0000009"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Obstruction of bladder outlet"}]} +{"alt_ids":[],"definition":"A decrease in the protein expression of GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis.","id":"HP:0041048","name":"Decreased expression of GPI-anchored proteins on the cell surface","obsolete":false,"parents":["HP:0031551"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An inability to digest starch.","id":"HP:0041049","name":"Starch intolerance","obsolete":false,"parents":["HP:0002024"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Amylose-amylopectin intolerance"},{"scope":"EXACT","text":"Starch intolerance"}]} +{"alt_ids":[],"definition":"Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells.","id":"HP:0041050","name":"Renal tubular cyst","obsolete":false,"parents":["HP:0000091","HP:0000107"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Renal tubule cyst"}]} +{"alt_ids":[],"definition":"A rare condition that is characterized by a complete loss of taste function of the tongue.","id":"HP:0041051","name":"Ageusia","obsolete":false,"parents":["HP:0000223"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent sense of taste"},{"scope":"EXACT","text":"Impaired taste sensation"},{"scope":"EXACT","text":"Lost taste"}]} +{"alt_ids":[],"definition":"A developmental defect characterized by the absence of the putamen owing to its failure to develop.","id":"HP:0041052","name":"Agenesis of putamen","obsolete":false,"parents":["HP:0031982"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0041053","name":"obsolete Fractured head","obsolete":true,"parents":[],"replaced_by":["HP:0041082"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0041054","name":"obsolete Fractured thoracic segment of trunk","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A partial or complete breakage of the humerus.","id":"HP:0041055","name":"Fractured humerus","obsolete":false,"parents":["HP:0025736","HP:0031095","HP:0041245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broken humerus"},{"scope":"EXACT","text":"Fracture of the humerus"},{"scope":"EXACT","text":"Humeral fracture"},{"scope":"EXACT","text":"Humerus fracture"},{"scope":"EXACT","text":"bone humerus"}]} +{"alt_ids":[],"definition":"A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI).","id":"HP:0041056","name":"Hot cross bun sign","obsolete":false,"parents":["HP:0007361"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A temporary reduction beneath the normal level of total immunoglobulin G4 (IgG4) in the blood circulation.","id":"HP:0041057","name":"Transient decreased circulating IgG4 concentration","obsolete":false,"parents":["HP:0032138"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Transient decreased IgG4 in blood"}]} +{"alt_ids":["HP:0041060"],"definition":"A lasting decrease of immunoglobulin G4 (IgG4) in the blood.","id":"HP:0041058","name":"Chronic decreased circulating IgG4 concentration","obsolete":false,"parents":["HP:0032138"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic decreased IgG4 in blood"}]} +{"alt_ids":[],"definition":"A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured.","id":"HP:0041059","name":"Chronic absent circulating IgG4","obsolete":false,"parents":["HP:0032138"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic (near) absent IgG4 in blood"}]} +{"alt_ids":[],"definition":null,"id":"HP:0041060","name":"obsolete Chronic partially decreased circulating IgG4","obsolete":true,"parents":[],"replaced_by":["HP:0041058"],"synonyms":[]} +{"alt_ids":[],"definition":"A partial or complete breakage of the calcaneus.","id":"HP:0041061","name":"Fractured calcaneus","obsolete":false,"parents":["HP:0008364","HP:0041247"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"bone calcaneus"}]} +{"alt_ids":[],"definition":"A temporary reduction beneath the normal level of total immunoglobulin G2 (IgG2) in the blood circulation.","id":"HP:0041062","name":"Transient decreased circulating IgG2 concentration","obsolete":false,"parents":["HP:0008348"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Transient decreased IgG2 in blood"}]} +{"alt_ids":["HP:0041066"],"definition":"A lasting decrease of immunoglobulin G2 (IgG2) in the blood.","id":"HP:0041063","name":"Chronic decreased circulating IgG2 concentration","obsolete":false,"parents":["HP:0008348"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic decreased IgG2 in blood"}]} +{"alt_ids":[],"definition":null,"id":"HP:0041064","name":"obsolete Fractured knee","obsolete":true,"parents":[],"replaced_by":["HP:0034669"],"synonyms":[]} +{"alt_ids":[],"definition":"A lasting absence of immunoglobulin G2 (IgG2) in the blood, whereby at most trace quantities of IgG2 can be measured.","id":"HP:0041065","name":"Chronic absent circulating IgG2","obsolete":false,"parents":["HP:0008348"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic (near) absent IgG2 in blood"}]} +{"alt_ids":[],"definition":null,"id":"HP:0041066","name":"obsolete Chronic partially decreased circulating IgG2","obsolete":true,"parents":[],"replaced_by":["HP:0041063"],"synonyms":[]} +{"alt_ids":[],"definition":"A temporary reduction beneath the normal level of total immunoglobulin G1 (IgG1) in the blood circulation.","id":"HP:0041067","name":"Transient decreased circulating IgG1 concentration","obsolete":false,"parents":["HP:0032136"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Transient decreased IgG1 in blood"}]} +{"alt_ids":["HP:0041070"],"definition":"A lasting decrease of immunoglobulin G1 (IgG1) in the blood.","id":"HP:0041068","name":"Chronic decreased circulating IgG1 concentration","obsolete":false,"parents":["HP:0032136"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic decreased IgG1 in blood"}]} +{"alt_ids":[],"definition":"A lasting absence of immunoglobulin G1 (IgG1) in the blood, whereby at most trace quantities of IgG1 can be measured.","id":"HP:0041069","name":"Chronic absent circulating IgG1","obsolete":false,"parents":["HP:0032136"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic (near) absent IgG1 in blood"}]} +{"alt_ids":[],"definition":null,"id":"HP:0041070","name":"obsolete Chronic partially decreased circulating IgG1","obsolete":true,"parents":[],"replaced_by":["HP:0041068"],"synonyms":[]} +{"alt_ids":[],"definition":"A temporary reduction beneath the normal level of total immunoglobulin G3 (IgG3) in the blood circulation.","id":"HP:0041071","name":"Transient decreased circulating IgG3 concentration","obsolete":false,"parents":["HP:0032137"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Transient decreased IgG3 in blood"}]} +{"alt_ids":["HP:0041075"],"definition":"A lasting decrease of immunoglobulin G3 (IgG3) in the blood.","id":"HP:0041072","name":"Chronic decreased circulating IgG3 concentration","obsolete":false,"parents":["HP:0032137"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic decreased IgG3 in blood"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the thoracic vertebra.","id":"HP:0041073","name":"Fractured thoracic 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mass (osteoporosis) that occurs as part of aging.","id":"HP:0041084","name":"Compression-fractured thoracic vertebra","obsolete":false,"parents":["HP:0041073"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Compression fractured thoracic vertebra"},{"scope":"EXACT","text":"Wedge fractured thoracic vertebra"}]} +{"alt_ids":[],"definition":"A fracture of the vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.","id":"HP:0041085","name":"Compression-fractured vertebra","obsolete":false,"parents":["HP:0041166"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Compression fractured vertebra"},{"scope":"EXACT","text":"Wedge fractured vertebra"}]} +{"alt_ids":[],"definition":"A fracture of the cervical vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.","id":"HP:0041086","name":"Compression-fractured cervical 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acetabular part of hip bone.","id":"HP:0041145","name":"Fractured acetabular part of hip bone","obsolete":false,"parents":["HP:0003170","HP:0020110"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"bone acetabular part of hip bone"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the coccyx.","id":"HP:0041146","name":"Fractured coccyx","obsolete":false,"parents":["HP:0008519","HP:0020110"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"bone coccyx"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the epiphysis.","id":"HP:0041147","name":"Fractured epiphysis","obsolete":false,"parents":["HP:0025736","HP:0100168"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"bone epiphysis"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the navicular bone of pes.","id":"HP:0041149","name":"Fractured navicular bone of pes","obsolete":false,"parents":["HP:0041247","HP:0100339"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"bone navicular bone of pes"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the cuboid bone.","id":"HP:0041150","name":"Fractured cuboid bone","obsolete":false,"parents":["HP:0041226"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"bone cuboid bone"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the sternoclavicular joint.","id":"HP:0041152","name":"Fractured sternoclavicular joint","obsolete":false,"parents":["HP:0009810"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"bone sternoclavicular joint"}]} +{"alt_ids":[],"definition":"A fracture or multiple fractures of one or more of three bones in the ankle joint: the tibia (shinbone), the fibula (outer ankle bone), and the talus (which is the bone that connects your leg to your foot).","id":"HP:0041153","name":"Fractured ankle","obsolete":false,"parents":["HP:0020110","HP:0034673"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ankle fracture"}]} +{"alt_ids":[],"definition":null,"id":"HP:0041154","name":"obsolete Fractured elbow joint","obsolete":true,"parents":[],"replaced_by":["HP:0041219"],"synonyms":[]} +{"alt_ids":[],"definition":"A partial or complete breakage of the mandible.","id":"HP:0041155","name":"Fractured mandible","obsolete":false,"parents":["HP:0000277","HP:0041234"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"bone mandible"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the orbit of skull.","id":"HP:0041156","name":"Fractured orbit of skull","obsolete":false,"parents":["HP:3000030"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"bone orbit of skull"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the larynx.","id":"HP:0041157","name":"Fractured 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complete breakage of the vertebra.","id":"HP:0041166","name":"Fractured vertebra","obsolete":false,"parents":["HP:0003468","HP:0020110"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"bone vertebra"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the cervical vertebra.","id":"HP:0041167","name":"Fractured cervical vertebra","obsolete":false,"parents":["HP:0041166","HP:0046508"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"bone cervical vertebra"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the lumbar vertebra.","id":"HP:0041168","name":"Fractured lumbar vertebra","obsolete":false,"parents":["HP:0041166","HP:0100712"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"bone lumbar vertebra"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the fused sacrum.","id":"HP:0041172","name":"Fractured fused sacrum","obsolete":false,"parents":["HP:0005107","HP:0020110"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"bone fused sacrum"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the metacarpophalangeal joint.","id":"HP:0041173","name":"Fractured metacarpophalangeal joint","obsolete":false,"parents":["HP:0009810","HP:0011911"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"bone metacarpophalangeal joint"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the distal phalanx of manus.","id":"HP:0041174","name":"Fractured distal finger phalanx","obsolete":false,"parents":["HP:0009832","HP:0041218","HP:0041241"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fractured distal phalanx of manus"},{"scope":"EXACT","text":"bone distal phalanx of manus"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the middle phalanx of pes.","id":"HP:0041175","name":"Fractured middle phalanx of pes","obsolete":false,"parents":["HP:0010183","HP:0041240"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"bone middle phalanx of pes"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the distal phalanx of manual digit 2.","id":"HP:0041176","name":"Fractured distal phalanx of manual digit 2","obsolete":false,"parents":["HP:0009542","HP:0041174"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"bone distal phalanx of manual digit 2"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the distal phalanx of manual digit 3.","id":"HP:0041177","name":"Fractured distal phalanx of manual digit 3","obsolete":false,"parents":["HP:0009357","HP:0041174"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"bone distal phalanx of manual digit 3"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the distal phalanx of manual digit 4.","id":"HP:0041178","name":"Fractured distal phalanx of manual digit 4","obsolete":false,"parents":["HP:0009282","HP:0041174"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"bone distal phalanx of manual digit 4"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the distal phalanx of manual digit 5.","id":"HP:0041179","name":"Fractured distal phalanx of manual digit 5","obsolete":false,"parents":["HP:0004225","HP:0041174"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"bone distal phalanx of manual digit 5"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the distal phalanx of pedal digit 1.","id":"HP:0041180","name":"Fractured distal phalanx of pedal digit 1","obsolete":false,"parents":["HP:0010053","HP:0041218","HP:0041240"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"bone distal phalanx of pedal digit 1"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the distal phalanx of pedal digit 3.","id":"HP:0041181","name":"Fractured distal phalanx of pedal digit 3","obsolete":false,"parents":["HP:0010368","HP:0041218","HP:0041240"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"bone distal phalanx of pedal digit 3"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the middle phalanx of manual digit 2.","id":"HP:0041182","name":"Fractured middle phalanx of manual digit 2","obsolete":false,"parents":["HP:0009543","HP:0041236"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"bone middle phalanx of manual digit 2"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the middle phalanx of manual digit 3.","id":"HP:0041183","name":"Fractured middle phalanx of manual digit 3","obsolete":false,"parents":["HP:0004172","HP:0041236"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"bone middle phalanx of manual digit 3"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the middle phalanx of manual digit 4.","id":"HP:0041184","name":"Fractured middle phalanx of manual digit 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+{"alt_ids":[],"definition":null,"id":"HP:0045039","name":"Osteolysis involving bones of the upper limbs","obsolete":false,"parents":["HP:0002797","HP:0040070"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate.","id":"HP:0045040","name":"Abnormal circulating lactate dehydrogenase concentration","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal LDH level"},{"scope":"EXACT","text":"Abnormal circulating LDH concentration"},{"scope":"EXACT","text":"Abnormal lactate dehydrogenase level"},{"scope":"EXACT","text":"AbnormalLDH level"}]} +{"alt_ids":[],"definition":"Concentration of lactate dehydrogenase in the blood circulation below the lower limit of normal.","id":"HP:0045041","name":"Reduced circulating lactate dehydrogenase 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component C4b in the blood circulation below the lower limit of normal.","id":"HP:0045044","name":"Decreased circulating complement C4b concentration","obsolete":false,"parents":["HP:0045042"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"C4b deficiency"},{"scope":"EXACT","text":"Complement component 4B deficiency"}]} +{"alt_ids":[],"definition":"The concentration of fatty acylcarnitine in the blood circulation is above the upper limit of normal.","id":"HP:0045045","name":"Elevated circulating fatty acylcarnitine concentration","obsolete":false,"parents":["HP:0012071"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated fatty acylcarnitine concentration"},{"scope":"EXACT","text":"Elevated fatty acylcarnitine level"},{"scope":"EXACT","text":"Elevated fatty acylcarnitine level in blood"},{"scope":"EXACT","text":"Elevated plasma acylcarnitine levels"},{"scope":"EXACT","text":"Increased fatty acylcarnitine concentration"},{"scope":"EXACT","text":"Increased fatty acylcarnitine level"},{"scope":"EXACT","text":"Increased fatty acylcarnitine level in blood"}]} +{"alt_ids":[],"definition":"The concentration of insulin-like growth factor-binding protein acid labile subunit in the blood circulation is below the lower limit of normal.","id":"HP:0045046","name":"Decreased circulating insulin-like growth factor-binding protein acid labile subunit concentration","obsolete":false,"parents":["HP:0031034"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acid-labile subunit deficiency"},{"scope":"EXACT","text":"Decreased insulin-like growth factor-binding protein complex acid labile subunit concentration"},{"scope":"EXACT","text":"Decreased insulin-like growth factor-binding protein complex acid labile subunit level"},{"scope":"EXACT","text":"Decreased insulin-like growth factor-binding protein complex acid labile subunit level in blood"},{"scope":"EXACT","text":"Decreased levels of acid labile subunit"},{"scope":"EXACT","text":"Reduced insulin like growth factor binding protein acid labile subunit level"},{"scope":"EXACT","text":"Reduced insulin-like growth factor-binding protein complex acid labile subunit concentration"},{"scope":"EXACT","text":"Reduced insulin-like growth factor-binding protein complex acid labile subunit level"},{"scope":"EXACT","text":"Reduced insulin-like growth factor-binding protein complex acid labile subunit level in blood"}]} +{"alt_ids":[],"definition":"Presence of an abnormal type of hemoglobin characterized by the substitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography.","id":"HP:0045047","name":"HbS hemoglobin","obsolete":false,"parents":["HP:0011902"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"HbS haemoglobin"}]} +{"alt_ids":[],"definition":"An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia.","id":"HP:0045048","name":"Increased HbA2 hemoglobin","obsolete":false,"parents":["HP:0011902"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased HbA2 haemoglobin"},{"scope":"EXACT","text":"Increased haemoglobin A2"},{"scope":"EXACT","text":"Increased hemoglobin A2"}]} +{"alt_ids":[],"definition":"An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs.","id":"HP:0045049","name":"Abnormal DLCO","obsolete":false,"parents":["HP:0030878"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal TLCO"},{"scope":"EXACT","text":"Abnormal diffusing capacity"},{"scope":"EXACT","text":"Abnormal transfer factor of the lung for carbon monoxide"}]} +{"alt_ids":[],"definition":"Increased ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.","id":"HP:0045050","name":"Increased DLCO","obsolete":false,"parents":["HP:0045049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased diffusing capacity"}]} +{"alt_ids":[],"definition":"Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.","id":"HP:0045051","name":"Decreased DLCO","obsolete":false,"parents":["HP:0045049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased diffusing capacity"}]} +{"alt_ids":[],"definition":"Any abnormality of the brachial nerve plexus.","id":"HP:0045052","name":"Abnormality of the brachial nerve plexus","obsolete":false,"parents":["HP:0410010"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality of the lumbosacral nerve plexus.","id":"HP:0045053","name":"Abnormality of the lumbosacral nerve plexus","obsolete":false,"parents":["HP:0410010"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0045054","name":"Brachial plexus neuropathy","obsolete":false,"parents":["HP:0045052"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0032461"],"definition":"An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding.","id":"HP:0045055","name":"Tiger tail banding","obsolete":false,"parents":["HP:0003328"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tiger tail banding"},{"scope":"EXACT","text":"Tiger-tail banding"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of alpha-fetoprotein in the blood circulation.","id":"HP:0045056","name":"Abnormal circulating alpha-fetoprotein concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal alpha-fetoprotein level"}]} +{"alt_ids":[],"definition":"The concentration of alpha-fetoprotein in the blood circulation is below the lower limit of normal.","id":"HP:0045057","name":"Decreased circulating alpha-fetoprotein concentration","obsolete":false,"parents":["HP:0045056"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased alpha-fetoprotein concentration"},{"scope":"EXACT","text":"Decreased alpha-fetoprotein level"},{"scope":"EXACT","text":"Decreased alpha-fetoprotein level in blood"},{"scope":"EXACT","text":"Reduced alpha-fetoprotein concentration"},{"scope":"EXACT","text":"Reduced alpha-fetoprotein level"},{"scope":"EXACT","text":"Reduced alpha-fetoprotein level in blood"}]} +{"alt_ids":[],"definition":"An anomaly of the size of the testicle (the male gonad).","id":"HP:0045058","name":"Abnormality of the testis size","obsolete":false,"parents":["HP:0000035"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).","id":"HP:0045059","name":"Hyperkeratotic papule","obsolete":false,"parents":["HP:0000962","HP:0200034"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0045060","name":"Aplasia/hypoplasia involving bones of the extremities","obsolete":false,"parents":["HP:0002813","HP:0009815"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0045061","name":"Decreased carnitine level in liver","obsolete":false,"parents":["HP:0034644"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells.","id":"HP:0045063","name":"Increased PIVKA-II","obsolete":false,"parents":["HP:0012200"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased prothrombin induced by vitamin K absence-II"}]} +{"alt_ids":[],"definition":"Inflammation in any serous cavity.","id":"HP:0045073","name":"Serositis","obsolete":false,"parents":["HP:0012649"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased diameter of eyebrow hairs.","id":"HP:0045074","name":"Thin eyebrow","obsolete":false,"parents":["HP:0100840"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thin eyebrow"},{"scope":"EXACT","text":"Thin eyebrows"}]} +{"alt_ids":["HP:0002222","HP:0002554","HP:0004520","HP:0004551"],"definition":"Decreased density/number of eyebrow hairs.","id":"HP:0045075","name":"Sparse eyebrow","obsolete":false,"parents":["HP:0100840"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypotrichosis of eyebrow"},{"scope":"EXACT","text":"Sparse eyebrow"},{"scope":"EXACT","text":"Sparse eyebrows"}]} +{"alt_ids":[],"definition":"Irregularity of the normally smooth surface of the distal metaphysis of the femur.","id":"HP:0045079","name":"Distal femoral metaphyseal irregularity","obsolete":false,"parents":["HP:0030291"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular distal femoral metaphyses"}]} +{"alt_ids":[],"definition":null,"id":"HP:0045080","name":"obsolete Decreased CD3+ T cell proportion","obsolete":true,"parents":[],"replaced_by":["HP:0005403"],"synonyms":[]} +{"alt_ids":[],"definition":"Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages.","id":"HP:0045081","name":"Abnormality of body mass index","obsolete":false,"parents":["HP:0004323"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal BMI"},{"scope":"EXACT","text":"Abnormal body mass index"}]} +{"alt_ids":[],"definition":"Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages.","id":"HP:0045082","name":"Decreased body mass index","obsolete":false,"parents":["HP:0004325","HP:0045081"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased BMI"}]} +{"alt_ids":[],"definition":null,"id":"HP:0045083","name":"obsolete Increased body mass index","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0045084","name":"Limb myoclonus","obsolete":false,"parents":["HP:0001336"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Myoclonus of limbs"}]} +{"alt_ids":[],"definition":null,"id":"HP:0045085","name":"Atrophy of masseter muscle","obsolete":false,"parents":["HP:3000005"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atrophied masseter muscle"},{"scope":"EXACT","text":"Masseter muscle atrophy"}]} +{"alt_ids":[],"definition":"The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees).","id":"HP:0045086","name":"Knee joint hypermobility","obsolete":false,"parents":["HP:0010500","HP:0430047"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Knee joint over-flexibility"}]} +{"alt_ids":[],"definition":null,"id":"HP:0045087","name":"Hip joint hypermobility","obsolete":false,"parents":["HP:0001384","HP:0430047"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Subontology for annotating phenotypic features as distinctive or minor findings in patients. The subontology is intended to be used to annotate subjective clinical impressions of whether a certain finding is important for the differential diagnosis.","id":"HP:0045088","name":"Clinical relevance","obsolete":false,"parents":["HP:0012823"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is likely to have high utility in distinguishing the correct diagnosis from other candidates in the differential.","id":"HP:0045089","name":"Distinctive finding","obsolete":false,"parents":["HP:0045088"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is unlikely to help distinguish the correct diagnosis from other candidates in the differential.","id":"HP:0045090","name":"Minor finding","obsolete":false,"parents":["HP:0045088"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inability of individual to reach orgasm.","id":"HP:0046502","name":"Anorgasmia","obsolete":false,"parents":["HP:0000080"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Elevated sexual desire.","id":"HP:0046503","name":"Increased libido","obsolete":false,"parents":["HP:0031845"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased sexual desire.","id":"HP:0046504","name":"Decreased libido","obsolete":false,"parents":["HP:0031845"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort localized to the hand.","id":"HP:0046505","name":"Hand pain","obsolete":false,"parents":["HP:0012513"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0046506","name":"Pain in head and neck region","obsolete":false,"parents":["HP:0012531"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bradypnea is referring to breathing that is abnormally slow.","id":"HP:0046507","name":"Bradypnea","obsolete":false,"parents":["HP:0002793"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any morphological abnormality of the cervical vertebral column.","id":"HP:0046508","name":"Abnormal cervical spine morphology","obsolete":false,"parents":["HP:0003319"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An early onset of puberty, in this case early does not refer to precocious.","id":"HP:0100000","name":"Early onset of sexual maturation","obsolete":false,"parents":["HP:0008373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Early onset of sexual maturation"}]} +{"alt_ids":[],"definition":"Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma being the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer.","id":"HP:0100001","name":"Malignant mesothelioma","obsolete":false,"parents":["HP:0011793"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A malignant mesothelioma originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma.","id":"HP:0100002","name":"Pleural mesothelioma","obsolete":false,"parents":["HP:0100001","HP:0100527"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A Malignant mesothelioma originating from cells of the peritoneum (the thin layer of mesothelium lining the abdomen). Peritoneal mesothelioma is the second most common form of mesothelioma after pleural mesothelioma.","id":"HP:0100003","name":"Peritoneal mesothelioma","obsolete":false,"parents":["HP:0002585","HP:0100001","HP:0100016"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart).","id":"HP:0100004","name":"Pericardial mesothelioma","obsolete":false,"parents":["HP:0001697","HP:0100001"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A Malignant mesothelioma of the testis.","id":"HP:0100005","name":"Testicular mesothelioma","obsolete":false,"parents":["HP:0010788","HP:0100001"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A neoplasm of the central nervous system.","id":"HP:0100006","name":"Neoplasm of the central nervous system","obsolete":false,"parents":["HP:0002011","HP:0004375"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Neoplasia of the central nervous system"},{"scope":"EXACT","text":"Neoplasm of the CNS"},{"scope":"EXACT","text":"Tumors of the central nervous system"},{"scope":"EXACT","text":"Tumours of the central nervous system"}]} +{"alt_ids":[],"definition":"A benign or malignant neoplasm (tumor) of the peripheral nervous system.","id":"HP:0100007","name":"Neoplasm of the peripheral nervous system","obsolete":false,"parents":["HP:0000759","HP:0004375"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tumor of the peripheral nervous system"},{"scope":"EXACT","text":"Tumour of the peripheral nervous system"}]} +{"alt_ids":[],"definition":"A benign nerve sheath tumor composed of Schwann cells.","id":"HP:0100008","name":"Schwannoma","obsolete":false,"parents":["HP:0100007"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neurilemmoma"},{"scope":"EXACT","text":"Neurinoma"},{"scope":"EXACT","text":"Neurolemmoma"},{"scope":"EXACT","text":"Schwann cell tumor"},{"scope":"EXACT","text":"Schwann cell tumour"},{"scope":"RELATED","text":"Schwannomas"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100009","name":"Intracranial meningioma","obsolete":false,"parents":["HP:0002858"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0100010","name":"Spinal meningioma","obsolete":false,"parents":["HP:0002858"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0100011","name":"Scleral schwannoma","obsolete":false,"parents":["HP:0000591","HP:0100008","HP:0100012"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tumor (abnormal growth of tissue) of the eye.","id":"HP:0100012","name":"Neoplasm of the eye","obsolete":false,"parents":["HP:0011793","HP:0012372"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eye tumor"},{"scope":"EXACT","text":"Eye tumour"},{"scope":"RELATED","text":"Neoplasia of the eye"}]} +{"alt_ids":["HP:0010623"],"definition":"A tumor (abnormal growth of tissue) of the breast.","id":"HP:0100013","name":"Neoplasm of the breast","obsolete":false,"parents":["HP:0011793","HP:0031093"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Breast tumor"},{"scope":"EXACT","text":"Breast tumour"},{"scope":"RELATED","text":"Neoplasia of the breast"},{"scope":"EXACT","text":"Tumours of the breast"}]} +{"alt_ids":[],"definition":"An epiretinal membrane is a thin sheet of fibrous tissue on the surface of the retina along the inner limiting membrane. It appears as a greyish semi-translucent avascular membrane over the internal limiting membrane (ILM) on the surface of the retina.","id":"HP:0100014","name":"Epiretinal membrane","obsolete":false,"parents":["HP:0030498"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cellophane maculopathy"},{"scope":"RELATED","text":"Epiretinal membranes"},{"scope":"EXACT","text":"Macular pucker"},{"scope":"EXACT","text":"Premacular fibrosis"},{"scope":"EXACT","text":"Surface wrinkling retinopathy"}]} +{"alt_ids":[],"definition":"The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix.","id":"HP:0100015","name":"Stahl ear","obsolete":false,"parents":["HP:0011235"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Additional crus"},{"scope":"EXACT","text":"Third crus"}]} +{"alt_ids":[],"definition":"Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium).","id":"HP:0100016","name":"Abnormal mesentery morphology","obsolete":false,"parents":["HP:0002012"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of mesentery morphology"},{"scope":"RELATED","text":"Abnormality of the mesentery"}]} +{"alt_ids":[],"definition":"A cataract that affects the capsule of the lens.","id":"HP:0100017","name":"Capsular cataract","obsolete":false,"parents":["HP:0000518"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007672","HP:0007781","HP:0008024"],"definition":"A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.","id":"HP:0100018","name":"Nuclear cataract","obsolete":false,"parents":["HP:0010920"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Yellowish cloudy center of lens"},{"scope":"EXACT","text":"Yellowish cloudy centre of lens"}]} +{"alt_ids":["HP:0007876"],"definition":"A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance.","id":"HP:0100019","name":"Cortical cataract","obsolete":false,"parents":["HP:0010920"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A cataract which is found in the back outer layer of the lens. This type often develops more rapidly.","id":"HP:0100020","name":"Posterior capsular cataract","obsolete":false,"parents":["HP:0100017"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems.","id":"HP:0100021","name":"Cerebral palsy","obsolete":false,"parents":["HP:0011442","HP:0100022"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CP"},{"scope":"EXACT","text":"Cerebral paralysis"}]} +{"alt_ids":["HP:0001294"],"definition":"An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.","id":"HP:0100022","name":"Abnormality of movement","obsolete":false,"parents":["HP:0012638"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of movement"},{"scope":"EXACT","text":"Movement disorder"},{"scope":"EXACT","text":"Unusual movement"}]} +{"alt_ids":[],"definition":"A type of repetitive behavior in which the affected individual repeatedly waves the hands and/or arms rhythmically.","id":"HP:0100023","name":"Recurrent hand flapping","obsolete":false,"parents":["HP:5200018"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unusually happy demeanor over time, which can also be observed during inappropriate situations that should, for example, cause distress, fear, or anger.","id":"HP:0100024","name":"Conspicuously happy disposition","obsolete":false,"parents":["HP:0040082"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Conspicious happy aspect"},{"scope":"EXACT","text":"Happy aspect"}]} +{"alt_ids":[],"definition":"A form of hypersociability that presents as mostly inappropriate friendliness towards others.","id":"HP:0100025","name":"Overfriendliness","obsolete":false,"parents":["HP:5200029"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excessive eagerness to interact with others"},{"scope":"EXACT","text":"Excessive friendliness"},{"scope":"EXACT","text":"Excessive gregariousness"},{"scope":"EXACT","text":"Hypersociability"},{"scope":"EXACT","text":"Overfamiliarity"}]} +{"alt_ids":[],"definition":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries.","id":"HP:0100026","name":"Arteriovenous malformation","obsolete":false,"parents":["HP:0033353"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A recurrent form of pancreatitis.","id":"HP:0100027","name":"Recurrent pancreatitis","obsolete":false,"parents":["HP:0001733"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurring pancreas inflammation"},{"scope":"EXACT","text":"Recurring pancreatitis"}]} +{"alt_ids":[],"definition":"Mislocalised thyroid gland.","id":"HP:0100028","name":"Ectopic thyroid","obsolete":false,"parents":["HP:0008188"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aberrant thyroid"},{"scope":"EXACT","text":"Aberrant thyroid gland"},{"scope":"EXACT","text":"Abnormal thyroid location"},{"scope":"EXACT","text":"Ectopic thyroid gland"},{"scope":"EXACT","text":"Heteropic thyroid gland"}]} +{"alt_ids":[],"definition":"An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend.","id":"HP:0100029","name":"Lingual thyroid","obsolete":false,"parents":["HP:0100028"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract.","id":"HP:0100030","name":"Accessory ectopic thyroid tissue","obsolete":false,"parents":["HP:0100028"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tumor (abnormal growth of tissue) of the thyroid gland.","id":"HP:0100031","name":"Neoplasm of the thyroid gland","obsolete":false,"parents":["HP:0011772","HP:0100568"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Neoplasia of the thyroid gland"}]} +{"alt_ids":[],"definition":"Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppressible and are usually associated with awareness of an urge to perform the movement.","id":"HP:0100033","name":"Tics","obsolete":false,"parents":["HP:0000722"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tic disorder"}]} +{"alt_ids":[],"definition":"Movement-based tics affecting discrete muscle groups.","id":"HP:0100034","name":"Motor tics","obsolete":false,"parents":["HP:0100033"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Tics are defined as movements or sounds that resemble physiological motor behaviors, but are typically inopportune to social context and appear sudden, repetitive, and often exaggerated. Tic vocalizations commonly termed vocal or phonic tics may include any possible sound (eg, sniffing, coughing, throat clearing, whistling, or grunting), word, or sentence and are most commonly encountered within the spectrum of primary tic disorders, as Tourette syndrome.","id":"HP:0100035","name":"Phonic tics","obsolete":false,"parents":["HP:0100033","HP:4000074"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Verbal tics"},{"scope":"EXACT","text":"Vocal tics"}]} +{"alt_ids":[],"definition":"A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture.","id":"HP:0100036","name":"Pseudo-fractures","obsolete":false,"parents":["HP:0003103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Looser zones"}]} +{"alt_ids":[],"definition":"An abnormality of the hair of head.","id":"HP:0100037","name":"Abnormality of the scalp hair","obsolete":false,"parents":["HP:0001595","HP:0001965"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the scalp hair"}]} +{"alt_ids":["HP:0004553"],"definition":"Scalp hair whose growth is slower than normal.","id":"HP:0100038","name":"Slow-growing scalp hair","obsolete":false,"parents":["HP:0002217","HP:0100037"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Slow-growing scalp hair"}]} +{"alt_ids":[],"definition":"An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones.","id":"HP:0100039","name":"Thickened cortex of bones","obsolete":false,"parents":["HP:0003103"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A broad appearance of the second toe.","id":"HP:0100040","name":"Broad 2nd toe","obsolete":false,"parents":["HP:0001837","HP:0010319"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide 2nd toe"}]} +{"alt_ids":[],"definition":"A broad appearance of the third toe.","id":"HP:0100041","name":"Broad 3rd toe","obsolete":false,"parents":["HP:0001837","HP:0010320"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad 3rd toe"},{"scope":"EXACT","text":"Wide 3rd toe"}]} +{"alt_ids":[],"definition":"A broad appearance of the fourth toe.","id":"HP:0100042","name":"Broad 4th toe","obsolete":false,"parents":["HP:0001837","HP:0010321"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad 4th toe"},{"scope":"EXACT","text":"Wide 4th toe"}]} +{"alt_ids":[],"definition":"A broad appearance of the fifth toe.","id":"HP:0100043","name":"Broad 5th toe","obsolete":false,"parents":["HP:0001837","HP:0010322"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad 5th toe"},{"scope":"EXACT","text":"Broad little toe"},{"scope":"EXACT","text":"Broad pinkie toe"},{"scope":"EXACT","text":"Broad pinky toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100044","name":"Absent epiphyses of the 2nd toe","obsolete":false,"parents":["HP:0010162","HP:0010323"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of the 2nd toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100045","name":"Bracket epiphyses of the 2nd toe","obsolete":false,"parents":["HP:0010163","HP:0010323"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of 2nd toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100046","name":"Cone-shaped epiphyses of the 2nd toe","obsolete":false,"parents":["HP:0010164","HP:0010323"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of the 2nd toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100047","name":"Enlarged epiphyses of the 2nd toe","obsolete":false,"parents":["HP:0010165","HP:0010323"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of the 2nd toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100048","name":"Fragmentation of the epiphyses of the 2nd toe","obsolete":false,"parents":["HP:0010166","HP:0010323"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of the end part of the 2nd toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100049","name":"Irregular epiphyses of the 2nd toe","obsolete":false,"parents":["HP:0010167","HP:0010323"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of the 2nd toe bone"}]} +{"alt_ids":[],"definition":"Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.","id":"HP:0100050","name":"Ivory epiphyses of the 2nd toe","obsolete":false,"parents":["HP:0010168","HP:0010323"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the 2nd toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100051","name":"Pseudoepiphyses of the 2nd toe","obsolete":false,"parents":["HP:0010169","HP:0010323"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0100052","name":"Small epiphyses of the 2nd toe","obsolete":false,"parents":["HP:0010170","HP:0010323"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of the 2nd toe bone"}]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe.","id":"HP:0100053","name":"Stippling of the epiphyses of the 2nd toe","obsolete":false,"parents":["HP:0010171","HP:0010323"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in the end part of the 2nd toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100054","name":"Triangular epiphyses of the 2nd toe","obsolete":false,"parents":["HP:0010172","HP:0010323"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular end part of the 2nd toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100055","name":"Absent epiphyses of the 3rd toe","obsolete":false,"parents":["HP:0010162","HP:0010329"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of the 3rd toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100056","name":"Bracket epiphyses of the 3rd toe","obsolete":false,"parents":["HP:0010163","HP:0010329"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of 3rd toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100057","name":"Cone-shaped epiphyses of the 3rd toe","obsolete":false,"parents":["HP:0010164","HP:0010329"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of the 3rd toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100058","name":"Enlarged epiphyses of the 3rd toe","obsolete":false,"parents":["HP:0010165","HP:0010329"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of the 3rd toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100059","name":"Fragmentation of the epiphyses of the 3rd toe","obsolete":false,"parents":["HP:0010166","HP:0010329"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of the end part of the 3rd toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100060","name":"Irregular epiphyses of the 3rd toe","obsolete":false,"parents":["HP:0010167","HP:0010329"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of the 3rd toe bone"}]} +{"alt_ids":[],"definition":"Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.","id":"HP:0100061","name":"Ivory epiphyses of the 3rd toe","obsolete":false,"parents":["HP:0010168","HP:0010329"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the 3rd toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100062","name":"Pseudoepiphyses of the 3rd toe","obsolete":false,"parents":["HP:0010169","HP:0010329"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0100063","name":"Small epiphyses of the 3rd toe","obsolete":false,"parents":["HP:0010170","HP:0010329"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of the 3rd toe bone"}]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe.","id":"HP:0100064","name":"Stippling of the epiphyses of the 3rd toe","obsolete":false,"parents":["HP:0010171","HP:0010329"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in the end part of the 3rd toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100065","name":"Triangular epiphyses of the 3rd toe","obsolete":false,"parents":["HP:0010172","HP:0010329"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular end part of the 3rd toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100066","name":"Absent epiphyses of the 4th toe","obsolete":false,"parents":["HP:0010162","HP:0010335"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of the 4th toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100067","name":"Bracket epiphyses of the 4th toe","obsolete":false,"parents":["HP:0010163","HP:0010335"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of 4th toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100068","name":"Cone-shaped epiphyses of the 4th toe","obsolete":false,"parents":["HP:0010164","HP:0010335"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of the 4th toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100069","name":"Enlarged epiphyses of the 4th toe","obsolete":false,"parents":["HP:0010165","HP:0010335"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of the 4th toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100070","name":"Fragmentation of the epiphyses of the 4th toe","obsolete":false,"parents":["HP:0010166","HP:0010335"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of the end part of the 4th toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100071","name":"Irregular epiphyses of the 4th toe","obsolete":false,"parents":["HP:0010167","HP:0010335"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of the 4th toe bone"}]} +{"alt_ids":[],"definition":"Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.","id":"HP:0100072","name":"Ivory epiphyses of the 4th toe","obsolete":false,"parents":["HP:0010168","HP:0010335"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the 4th toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100073","name":"Pseudoepiphyses of the 4th toe","obsolete":false,"parents":["HP:0010169","HP:0010335"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0100074","name":"Small epiphyses of the 4th toe","obsolete":false,"parents":["HP:0010170","HP:0010335"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of the 4th toe bone"}]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe.","id":"HP:0100075","name":"Stippling of the epiphyses of the 4th toe","obsolete":false,"parents":["HP:0010171","HP:0010335"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in the end part of the 4th toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100076","name":"Triangular epiphyses of the 4th toe","obsolete":false,"parents":["HP:0010172","HP:0010335"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular end part of the 4th toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100077","name":"Absent epiphyses of the 5th toe","obsolete":false,"parents":["HP:0010162","HP:0010341"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent end part of the little toe bone"},{"scope":"EXACT","text":"Absent end part of the pinkie toe bone"},{"scope":"EXACT","text":"Absent end part of the pinky toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100078","name":"Bracket epiphyses of the 5th toe","obsolete":false,"parents":["HP:0010163","HP:0010341"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of little toe bone"},{"scope":"EXACT","text":"Bracket shaped end part of pinkie toe bone"},{"scope":"EXACT","text":"Bracket shaped end part of pinky toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100079","name":"Cone-shaped epiphyses of the 5th toe","obsolete":false,"parents":["HP:0010164","HP:0010341"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cone-shaped end part of the little toe bone"},{"scope":"EXACT","text":"Cone-shaped end part of the pinkie toe bone"},{"scope":"EXACT","text":"Cone-shaped end part of the pinky toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100080","name":"Enlarged epiphyses of the 5th toe","obsolete":false,"parents":["HP:0010165","HP:0010341"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged end part of the little toe bone"},{"scope":"EXACT","text":"Enlarged end part of the pinkie toe bone"},{"scope":"EXACT","text":"Enlarged end part of the pinky toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100081","name":"Fragmentation of the epiphyses of the 5th toe","obsolete":false,"parents":["HP:0010166","HP:0010341"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fragmentation of the end part of the little toe bone"},{"scope":"EXACT","text":"Fragmentation of the end part of the pinkie toe bone"},{"scope":"EXACT","text":"Fragmentation of the end part of the pinky toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100082","name":"Irregular epiphyses of the 5th toe","obsolete":false,"parents":["HP:0010167","HP:0010341"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Irregular end part of the little toe bone"},{"scope":"EXACT","text":"Irregular end part of the pinkie toe bone"},{"scope":"EXACT","text":"Irregular end part of the pinky toe bone"}]} +{"alt_ids":[],"definition":"Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.","id":"HP:0100083","name":"Ivory epiphyses of the 5th toe","obsolete":false,"parents":["HP:0010168","HP:0010341"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of end part of the little toe bone"},{"scope":"EXACT","text":"Increased bone density of end part of the pinkie toe bone"},{"scope":"EXACT","text":"Increased bone density of end part of the pinky toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100084","name":"Pseudoepiphyses of the 5th toe","obsolete":false,"parents":["HP:0010169","HP:0010341"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0100085","name":"Small epiphyses of the 5th toe","obsolete":false,"parents":["HP:0010170","HP:0010341"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small end part of the little toe bone"},{"scope":"EXACT","text":"Small end part of the pinkie toe bone"},{"scope":"EXACT","text":"Small end part of the pinky toe bone"}]} +{"alt_ids":[],"definition":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th toe.","id":"HP:0100086","name":"Stippling of the epiphyses of the 5th toe","obsolete":false,"parents":["HP:0010171","HP:0010341"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speckled calcifications in the end part of the little toe bone"},{"scope":"EXACT","text":"Speckled calcifications in the end part of the pinkie toe bone"},{"scope":"EXACT","text":"Speckled calcifications in the end part of the pinky toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100087","name":"Triangular epiphyses of the 5th toe","obsolete":false,"parents":["HP:0010172","HP:0010341"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular end part of the little toe bone"},{"scope":"EXACT","text":"Triangular end part of the pinkie toe bone"},{"scope":"EXACT","text":"Triangular end part of the pinky toe bone"}]} 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toe","obsolete":false,"parents":["HP:0010329"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the outermost bone of the 3rd toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100092","name":"Abnormality of the epiphysis of the middle phalanx of the 3rd toe","obsolete":false,"parents":["HP:0010329"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the middle bone of the 3rd toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100093","name":"Abnormality of the epiphysis of the proximal phalanx of the 3rd toe","obsolete":false,"parents":["HP:0010329"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the innermost bone of the 3rd toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100094","name":"Abnormality of the epiphysis of the distal phalanx of the 4th toe","obsolete":false,"parents":["HP:0010335"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the outermost bone of the 4th toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100095","name":"Abnormality of the epiphysis of the middle phalanx of the 4th toe","obsolete":false,"parents":["HP:0010335"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the middle bone of the 4th toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100096","name":"Abnormality of the epiphysis of the proximal phalanx of the 4th toe","obsolete":false,"parents":["HP:0010335"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the innermost bone of the 4th toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100097","name":"Abnormality of the epiphysis of the distal phalanx of the 5th toe","obsolete":false,"parents":["HP:0010341"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the end part of the outermost bone of the little toe"},{"scope":"EXACT","text":"Abnormality of the end part of the outermost bone of the 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mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.","id":"HP:0100242","name":"Sarcoma","obsolete":false,"parents":["HP:0011792"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cancer of connective tissue"},{"scope":"EXACT","text":"Malignant connective tissue tumor"},{"scope":"EXACT","text":"Malignant connective tissue tumour"}]} +{"alt_ids":[],"definition":"A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma.","id":"HP:0100243","name":"Leiomyosarcoma","obsolete":false,"parents":["HP:0030448"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells.","id":"HP:0100244","name":"Fibrosarcoma","obsolete":false,"parents":["HP:0030448"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine.","id":"HP:0100245","name":"Gastrointestinal desmoid tumor","obsolete":false,"parents":["HP:0007378","HP:6001034"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gastrointestinal desmoid tumors"},{"scope":"EXACT","text":"Gastrointestinal desmoid tumours"}]} +{"alt_ids":[],"definition":"Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant.","id":"HP:0100246","name":"Osteoma","obsolete":false,"parents":["HP:0010622"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc.","id":"HP:0100247","name":"Recurrent singultus","obsolete":false,"parents":["HP:0025142"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Hiccup"},{"scope":"RELATED","text":"Hiccups"},{"scope":"EXACT","text":"Recurrent hiccough"},{"scope":"EXACT","text":"Recurrent hiccup"},{"scope":"EXACT","text":"Recurrent synchronous diaphragmatic flutter"}]} +{"alt_ids":[],"definition":"Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements.","id":"HP:0100248","name":"Hemiballismus","obsolete":false,"parents":["HP:0004305"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Ballismus"}]} +{"alt_ids":[],"definition":"Deposition of calcium salts in muscle tissue.","id":"HP:0100249","name":"Calcification of muscles","obsolete":false,"parents":["HP:0010766","HP:0011805"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Skeletal muscle calcinosis"}]} +{"alt_ids":[],"definition":"Calcium deposition affecting the Meninges.","id":"HP:0100250","name":"Meningeal calcification","obsolete":false,"parents":["HP:0010651","HP:0430048"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of multiple lipomas located in the central nervous system.","id":"HP:0100251","name":"Multiple central nervous system lipomas","obsolete":false,"parents":["HP:0001012","HP:0100835"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lipomas of the central nervous system"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100252","name":"Diaphyseal dysplasia","obsolete":false,"parents":["HP:0000940","HP:0002652"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored.","id":"HP:0100253","name":"Abnormality of the medullary cavity of the long bones","obsolete":false,"parents":["HP:0000940"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the marrow cavity of the long bones"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100254","name":"Stenosis of the medullary cavity of the long bones","obsolete":false,"parents":["HP:0100253"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0000948","HP:0005002","HP:0005636","HP:0005704","HP:0005899","HP:0006427"],"definition":"The presence of dysplastic regions in metaphyseal regions.","id":"HP:0100255","name":"Metaphyseal dysplasia","obsolete":false,"parents":["HP:0000944","HP:0002652"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Senile plaques are extracellular deposits of amyloid in the gray matter of the brain.","id":"HP:0100256","name":"Senile plaques","obsolete":false,"parents":["HP:0007367"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Braindruse"},{"scope":"EXACT","text":"Neuritic plaques"},{"scope":"EXACT","text":"Senile druse"}]} +{"alt_ids":[],"definition":"A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.","id":"HP:0100257","name":"Ectrodactyly","obsolete":false,"parents":["HP:0002813"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cleft hand"},{"scope":"EXACT","text":"Lobster claw hand"}]} +{"alt_ids":[],"definition":"A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.","id":"HP:0100258","name":"Preaxial polydactyly","obsolete":false,"parents":["HP:0010442"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Polydactyly, preaxial"}]} +{"alt_ids":["HP:0005808"],"definition":"A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.","id":"HP:0100259","name":"Postaxial polydactyly","obsolete":false,"parents":["HP:0010442"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Polydactyly, postaxial"},{"scope":"EXACT","text":"Postaxial hexadactyly"}]} +{"alt_ids":[],"definition":"The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly.","id":"HP:0100260","name":"Mesoaxial polydactyly","obsolete":false,"parents":["HP:0010442"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Central polydactyly"},{"scope":"RELATED","text":"Insertional polydactyly"},{"scope":"EXACT","text":"Intercalary polydactyly"}]} +{"alt_ids":[],"definition":"An abnormality of the structure or form of the tendons, also often called sinews.","id":"HP:0100261","name":"Abnormal tendon morphology","obsolete":false,"parents":["HP:0011842"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of tendon"},{"scope":"EXACT","text":"Abnormality of the sinew"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100262","name":"Synostosis involving digits","obsolete":false,"parents":["HP:0100240"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fusion involving digits"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100263","name":"Distal symphalangism","obsolete":false,"parents":["HP:0100262"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Symphalangism, distal"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100264","name":"Proximal symphalangism","obsolete":false,"parents":["HP:0100262"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cushing's symphalangism"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100265","name":"Synostosis of metacarpals/metatarsals","obsolete":false,"parents":["HP:0100240"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fusion of long bones of hand/long bones of foot"}]} +{"alt_ids":["HP:0005666","HP:0005675","HP:0005823"],"definition":"The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus.","id":"HP:0100266","name":"Synostosis of carpals/tarsals","obsolete":false,"parents":["HP:0100240"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Carpal and tarsal fusions"},{"scope":"EXACT","text":"Coalescence of carpal and tarsal bones"},{"scope":"EXACT","text":"Fusion of carpal and tarsal bones"},{"scope":"EXACT","text":"Wrist bone/ankle bone fusions"}]} +{"alt_ids":[],"definition":"A depression located on a lip.","id":"HP:0100267","name":"Lip pit","obsolete":false,"parents":["HP:0000159","HP:0100276"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Depression located on the vermilion of the upper lip, usually paramedian.","id":"HP:0100268","name":"Upper lip pit","obsolete":false,"parents":["HP:0000177","HP:0100269"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Depression located paramedially on the vermilion of a lip.","id":"HP:0100269","name":"Paramedian lip pit","obsolete":false,"parents":["HP:0100267"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Paramedian labial pits"}]} +{"alt_ids":[],"definition":"An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs.","id":"HP:0100270","name":"Abnormality of dorsoventral patterning of the limbs","obsolete":false,"parents":["HP:0001155","HP:0001760"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion.","id":"HP:0100271","name":"Hyponasal speech","obsolete":false,"parents":["HP:0001608"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal.","id":"HP:0100272","name":"Branchial sinus","obsolete":false,"parents":["HP:0009794"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Branchial cleft sinus"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100273","name":"Neoplasm of the colon","obsolete":false,"parents":["HP:0100834"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Colon tumor"},{"scope":"EXACT","text":"Colon tumour"}]} +{"alt_ids":[],"definition":"Gustatory lacrimation results from an aberrant innervation of fibers from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal.","id":"HP:0100274","name":"Gustatory lacrimation","obsolete":false,"parents":["HP:0000632","HP:0031910"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0006928"],"definition":"Diffuse unlocalised atrophy affecting the cerebellum.","id":"HP:0100275","name":"Diffuse cerebellar atrophy","obsolete":false,"parents":["HP:0001272"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A small, skin-lined tract that leads from the surface to deep within the tissues.","id":"HP:0100276","name":"Skin pit","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Skin pit"},{"scope":"RELATED","text":"Skin pits"}]} +{"alt_ids":[],"definition":"Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit.","id":"HP:0100277","name":"Periauricular skin pits","obsolete":false,"parents":["HP:0000383","HP:0100276"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Periauricular earpits"},{"scope":"EXACT","text":"Periauricular fistulas"},{"scope":"EXACT","text":"Periauricular pits"},{"scope":"EXACT","text":"Periauricular sinus"},{"scope":"EXACT","text":"Pits around the ear"}]} +{"alt_ids":[],"definition":"A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon.","id":"HP:0100279","name":"Ulcerative colitis","obsolete":false,"parents":["HP:0100281"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Colitis ulcerosa"}]} +{"alt_ids":[],"definition":"A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation.","id":"HP:0100280","name":"Crohn's disease","obsolete":false,"parents":["HP:0004386"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Granulomatous enteritis and colitis"},{"scope":"EXACT","text":"Morbus Crohn"}]} +{"alt_ids":[],"definition":"A chronic inflammatory disease of the large intestine (colon, cecum and rectum).","id":"HP:0100281","name":"Chronic colitis","obsolete":false,"parents":["HP:0002583"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum).","id":"HP:0100282","name":"Acute colitis","obsolete":false,"parents":["HP:0002583"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles.","id":"HP:0100283","name":"EMG: continuous motor unit activity at rest","obsolete":false,"parents":["HP:0003457"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound.","id":"HP:0100284","name":"EMG: myotonic discharges","obsolete":false,"parents":["HP:0003457"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP).","id":"HP:0100285","name":"EMG: impaired neuromuscular transmission","obsolete":false,"parents":["HP:0003457"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of reduced conduction velocity of motor nerves on electromyography.","id":"HP:0100287","name":"EMG: slow motor conduction","obsolete":false,"parents":["HP:0003457"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding.","id":"HP:0100288","name":"EMG: myokymic discharges","obsolete":false,"parents":["HP:0002411","HP:0003457"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0100289","name":"Abnormality of pattern reversal visual evoked potentials","obsolete":false,"parents":["HP:0030455"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of pattern reversal VEP"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100290","name":"Abnormality of peripheral somatosensory evoked potentials","obsolete":false,"parents":["HP:0007377"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal increase (delay) in the somatosensory central conduction time (CCT), which can be measured from the peak of N13 to the peak of N20 (peak CCT) or from the onset of N11 to the onset of N20 (onset CCT).","id":"HP:0100291","name":"Delayed somatosensory central conduction time","obsolete":false,"parents":["HP:0007377"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of amyloid deposition in the nerves of the peripheral nervous system.","id":"HP:0100292","name":"Amyloidosis of peripheral nerves","obsolete":false,"parents":["HP:0000759","HP:0020015"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of an increased amount of muscle fibers with an increased diameter. This feature can be ascertained by microscopic examination of a muscle biopsy sample. Together with fiber size variation and atrophied muscle fibers, and hypertrophied muscle fibers are commonly found in myopathies.","id":"HP:0100293","name":"Hypertrophied muscle fibers","obsolete":false,"parents":["HP:0004303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle fiber hypertrophy"},{"scope":"EXACT","text":"Muscle fibre hypertrophy"}]} +{"alt_ids":["HP:0100294"],"definition":null,"id":"HP:0100295","name":"Muscle fiber atrophy","obsolete":false,"parents":["HP:0004303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle fiber degeneration"},{"scope":"EXACT","text":"Muscle fibre degeneration"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100296","name":"Perifascicular muscle fiber atrophy","obsolete":false,"parents":["HP:0004303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Perifascicular muscle fibre atrophy"}]} +{"alt_ids":[],"definition":"An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscle fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium.","id":"HP:0100297","name":"Increased endomysial connective tissue","obsolete":false,"parents":["HP:0004303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Endomysial fibrosis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100298","name":"Motheaten muscle fibers","obsolete":false,"parents":["HP:0004303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Motheaten muscle fibres"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100299","name":"Muscle fiber inclusion bodies","obsolete":false,"parents":["HP:0004303","HP:0020067"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle fibre inclusion bodies"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100300","name":"Desmin bodies","obsolete":false,"parents":["HP:0100303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities.","id":"HP:0100301","name":"Muscle fiber tubular inclusions","obsolete":false,"parents":["HP:0100303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle fiber tubular aggregates"},{"scope":"EXACT","text":"Muscle fibre tubular aggregates"},{"scope":"EXACT","text":"Muscle fibre tubular inclusions"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100302","name":"Muscle fiber tubuloreticular inclusions","obsolete":false,"parents":["HP:0100303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle fiber tubuloreticular aggregates"},{"scope":"EXACT","text":"Muscle fibre tubuloreticular aggregates"},{"scope":"EXACT","text":"Muscle fibre tubuloreticular inclusions"}]} +{"alt_ids":["HP:0003790"],"definition":"The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.","id":"HP:0100303","name":"Muscle fiber cytoplasmatic inclusion bodies","obsolete":false,"parents":["HP:0100299"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle fiber cytoplasmic bodies"},{"scope":"EXACT","text":"Muscle fibre cytoplasmatic inclusion bodies"},{"scope":"EXACT","text":"Muscle fibre cytoplasmic bodies"}]} +{"alt_ids":[],"definition":"The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.","id":"HP:0100304","name":"Muscle fiber intranuclear inclusion bodies","obsolete":false,"parents":["HP:0020068","HP:0100299"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle fibre intranuclear inclusion bodies"}]} +{"alt_ids":[],"definition":"Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation.","id":"HP:0100305","name":"Ring fibers","obsolete":false,"parents":["HP:0004303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ring fibres"}]} +{"alt_ids":[],"definition":"Subsarcolemmal, eosinophilic glass-like regions in the cytoplasm of muscle fibers. Hyaline bodies show significant reactivity to myofibrillar ATPase after acid pre-incubation and with immunohistochemistry, show intense reactivity with only slow myosin heavy chain. Electron microscopy of the affected areas show a lack of myofibrils and a uniform, finely granular matrix, sometimes suggesting a filamentous nature, containing few scattered nuclei and mitochondria.","id":"HP:0100306","name":"Muscle fiber hyaline bodies","obsolete":false,"parents":["HP:0100303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle fibre hyaline bodies"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100307","name":"Cerebellar hemisphere hypoplasia","obsolete":false,"parents":["HP:0001321"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle.","id":"HP:0100308","name":"Cerebral cortical hemiatrophy","obsolete":false,"parents":["HP:0002120"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hemorrhage occurring between the dura mater and the arachnoid mater.","id":"HP:0100309","name":"Subdural hemorrhage","obsolete":false,"parents":["HP:0002170"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Subdural haematoma"},{"scope":"EXACT","text":"Subdural haemorrhage"},{"scope":"EXACT","text":"Subdural hematoma"}]} +{"alt_ids":[],"definition":"Hemorrhage occurring between the dura mater and the skull.","id":"HP:0100310","name":"Epidural hemorrhage","obsolete":false,"parents":["HP:0002170"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Epidural haematoma"},{"scope":"EXACT","text":"Epidural haemorrhage"},{"scope":"EXACT","text":"Epidural hematoma"},{"scope":"EXACT","text":"Extradural haematoma"},{"scope":"EXACT","text":"Extradural hematoma"}]} +{"alt_ids":[],"definition":"Bands of scar-like tissue that have formed within a cerebral ventricle.","id":"HP:0100311","name":"Cerebral ventricular adhesions","obsolete":false,"parents":["HP:0002118"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a germ cell tumor of the cerebrum.","id":"HP:0100312","name":"Cerebral germinoma","obsolete":false,"parents":["HP:0100620","HP:0100835","HP:0100836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.","id":"HP:0100313","name":"Cerebral granulomatosis","obsolete":false,"parents":["HP:0002060","HP:0002955"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain.","id":"HP:0100314","name":"Cerebral inclusion bodies","obsolete":false,"parents":["HP:0002060"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0100315","name":"Lewy bodies","obsolete":false,"parents":["HP:0100314"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Lewy body disease"}]} +{"alt_ids":[],"definition":"Intracellular aggregates of actin and actin-associated proteins within nerve cells.","id":"HP:0100316","name":"Hirano bodies","obsolete":false,"parents":["HP:0100314"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue.","id":"HP:0100317","name":"Argyrophilic inclusion bodies","obsolete":false,"parents":["HP:0100314"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Agyrophilic inclusion bodies"},{"scope":"EXACT","text":"Pick inclusion bodies"}]} +{"alt_ids":[],"definition":"An intraneuronal inclusion body composed of acid mucopolysaccharides.","id":"HP:0100318","name":"Lafora bodies","obsolete":false,"parents":["HP:0100314"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance.","id":"HP:0100319","name":"Cerebral hyaline bodies","obsolete":false,"parents":["HP:0100314"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cerebral colloid bodies"}]} +{"alt_ids":[],"definition":"Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders.","id":"HP:0100320","name":"Rosenthal fibers","obsolete":false,"parents":["HP:0100314"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rosenthal fibres"}]} +{"alt_ids":[],"definition":"An abnormality of the dentate nucleus.","id":"HP:0100321","name":"Abnormal dentate nucleus morphology","obsolete":false,"parents":["HP:0001317"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the dentate nucleus"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100322","name":"Aplasia of the pyramidal 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This can take on many forms depending on severity and distribution as can be seen on x-rays.","id":"HP:0100465","name":"Patchy sclerosis of the proximal phalanx of the 4th toe","obsolete":false,"parents":["HP:0010208","HP:0010376","HP:0100933"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uneven increase in bone density in the innermost bone of the 4th toe"}]} +{"alt_ids":[],"definition":"Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.","id":"HP:0100466","name":"Patchy sclerosis of the proximal phalanx of the 5th toe","obsolete":false,"parents":["HP:0010208","HP:0010388","HP:0100934"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uneven increase in bone density in the innermost bone of the little toe"},{"scope":"EXACT","text":"Uneven increase in bone density in the innermost bone of the pinkie toe"},{"scope":"EXACT","text":"Uneven increase in bone density in the innermost bone of the pinky toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100467","name":"Patchy sclerosis of the distal phalanx of the 3rd toe","obsolete":false,"parents":["HP:0010190","HP:0010364","HP:0100940"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uneven increase in bone density in the outermost bone of the 3rd toe"}]} +{"alt_ids":[],"definition":"Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.","id":"HP:0100468","name":"Patchy sclerosis of the distal phalanx of the 4th toe","obsolete":false,"parents":["HP:0010190","HP:0010376","HP:0100941"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uneven increase in bone density in the outermost bone of the 4th toe"}]} +{"alt_ids":[],"definition":"Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.","id":"HP:0100469","name":"Patchy sclerosis of the distal phalanx of the 5th toe","obsolete":false,"parents":["HP:0010190","HP:0010388","HP:0100942"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uneven increase in bone density in the outermost little toe bone"},{"scope":"EXACT","text":"Uneven increase in bone density in the outermost pinkie toe bone"},{"scope":"EXACT","text":"Uneven increase in bone density in the outermost pinky toe bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100470","name":"obsolete Symphalangism affecting the middle phalanx of the 3rd toe","obsolete":true,"parents":[],"replaced_by":["HP:0010365"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0100471","name":"obsolete Symphalangism affecting the middle phalanx of the 4th toe","obsolete":true,"parents":[],"replaced_by":["HP:0010377"],"synonyms":[]} 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the fifth toe.","id":"HP:0100486","name":"Fifth ray metatarsophalangeal synostosis","obsolete":false,"parents":["HP:0001440"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused innermost pinky toe bone with the 5th long bone of foot"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100487","name":"Triangular shaped distal phalanx of the 5th toe","obsolete":false,"parents":["HP:0010390"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped outermost bone of the little toe"},{"scope":"EXACT","text":"Triangular shaped outermost bone of the pinkie toe"},{"scope":"EXACT","text":"Triangular shaped outermost bone of the pinky toe"}]} +{"alt_ids":[],"definition":"Congenital fusion of the firth metatarsal bone with the proximal phalanx of the hallux.","id":"HP:0100488","name":"First ray metatarsophalangeal synostosis","obsolete":false,"parents":["HP:0001440","HP:0010073"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fusion of the innermost big toe bone with the 1st long bone of foot"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100489","name":"obsolete Proximal/middle symphalangism of 2nd toe","obsolete":true,"parents":[],"replaced_by":["HP:0010353"],"synonyms":[]} +{"alt_ids":["HP:0005651","HP:0005662","HP:0005713","HP:0005801","HP:0005821","HP:0006195","HP:0006218","HP:0006240","HP:0009698"],"definition":"The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.","id":"HP:0100490","name":"Camptodactyly of finger","obsolete":false,"parents":["HP:0001220","HP:0006261","HP:0012385"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Camptodactyly of hands"},{"scope":"EXACT","text":"Camptodactyly of proximal interphalangeal joint"},{"scope":"EXACT","text":"Contractures of the proximal interphalangeal joints of the fingers"},{"scope":"EXACT","text":"Flexion contractures of proximal interphalangeal joints"},{"scope":"EXACT","text":"Permanent flexion of the finger"},{"scope":"EXACT","text":"Proximal interphalangeal finger joint contractures"}]} +{"alt_ids":["HP:0100239"],"definition":null,"id":"HP:0100491","name":"Abnormality of lower limb joint","obsolete":false,"parents":["HP:0001367","HP:0002814"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of lower limb joint"},{"scope":"EXACT","text":"Abnormality of the joints of the lower limbs"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100492","name":"obsolete Joint contractures involving the joints of the feet","obsolete":true,"parents":[],"replaced_by":["HP:0008366"],"synonyms":[]} +{"alt_ids":[],"definition":"A decreased concentration of ammonia in the blood.","id":"HP:0100493","name":"Hypoammonemia","obsolete":false,"parents":["HP:0004364"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic 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normal.","id":"HP:0100512","name":"Decreased circulating vitamin D concentration","obsolete":false,"parents":["HP:0100511"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deficient in vitamin D"},{"scope":"EXACT","text":"Low levels of vitamin D"},{"scope":"EXACT","text":"Vitamin D deficiency"}]} +{"alt_ids":[],"definition":"A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol.","id":"HP:0100513","name":"Decreased circulating vitamin E concentration","obsolete":false,"parents":["HP:0100514"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Alpha-tocopherol deficiency"},{"scope":"EXACT","text":"Low levels of vitamin E"},{"scope":"EXACT","text":"Vitamin E deficiency"}]} +{"alt_ids":[],"definition":"Concentration of vitamin E in the blood circulation outside of normal limits.","id":"HP:0100514","name":"Abnormal circulating vitamin E concentration","obsolete":false,"parents":["HP:0020350"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased frequency of urination.","id":"HP:0100515","name":"Pollakisuria","obsolete":false,"parents":["HP:0000009"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Constant urination"},{"scope":"EXACT","text":"Frequent urination"}]} +{"alt_ids":[],"definition":"The presence of a neoplasm of the ureter.","id":"HP:0100516","name":"Neoplasm of the ureter","obsolete":false,"parents":["HP:0000069","HP:0010786"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Neoplasia of the ureters"},{"scope":"RELATED","text":"ureter, cancer of"}]} +{"alt_ids":[],"definition":"The presence of a neoplasm of the urethra.","id":"HP:0100517","name":"Neoplasm of the urethra","obsolete":false,"parents":["HP:0000795","HP:0010786"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Neoplasia of the urethra"}]} +{"alt_ids":[],"definition":"Painful or difficult urination.","id":"HP:0100518","name":"Dysuria","obsolete":false,"parents":["HP:0000009"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Dull burning sensation with urination"},{"scope":"EXACT","text":"Painful or difficult urination"}]} +{"alt_ids":[],"definition":"Absence of urine, clinically classified as below 50ml/day.","id":"HP:0100519","name":"Anuria","obsolete":false,"parents":["HP:0011037"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent urine output"}]} +{"alt_ids":[],"definition":"Low output of urine, clinically classified as an output below 300-500ml/day.","id":"HP:0100520","name":"Oliguria","obsolete":false,"parents":["HP:0011037"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tumor (abnormal growth of tissue) of the thymus.","id":"HP:0100521","name":"Neoplasm of the thymus","obsolete":false,"parents":["HP:0000777","HP:0011793"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tumor originating from the epithelial cells of the thymus.","id":"HP:0100522","name":"Thymoma","obsolete":false,"parents":["HP:0100521"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0001400"],"definition":"A localized, circumscribed collection of purulent material (pus) within the liver parenchyma, typically resulting from a bacterial, parasitic, or fungal infection. Unlike hepatitis, which is often diffuse, an abscess is a focal lesion.","id":"HP:0100523","name":"Liver abscess","obsolete":false,"parents":["HP:0025615","HP:0410042"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hepatic abscess"},{"scope":"EXACT","text":"Liver abscess"},{"scope":"EXACT","text":"Purulent hepatic collection"}]} +{"alt_ids":[],"definition":"Congenital duplication of all or part of a limb.","id":"HP:0100524","name":"Limb duplication","obsolete":false,"parents":["HP:0002813"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dimelia"},{"scope":"EXACT","text":"Limb duplication"}]} +{"alt_ids":[],"definition":"Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus.","id":"HP:0100525","name":"Urachus fistula","obsolete":false,"parents":["HP:0010478"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Tumor of the lung.","id":"HP:0100526","name":"Neoplasm of the lung","obsolete":false,"parents":["HP:0002088","HP:0100606"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Lung cancer"},{"scope":"EXACT","text":"Lung tumor"},{"scope":"EXACT","text":"Lung tumour"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100527","name":"Neoplasia of the pleura","obsolete":false,"parents":["HP:0002103","HP:0100606"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant.","id":"HP:0100528","name":"Pleuropulmonary blastoma","obsolete":false,"parents":["HP:0100527","HP:0100552"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of phosphate ion in the blood circulation.","id":"HP:0100529","name":"Abnormal circulating phosphate ion concentration","obsolete":false,"parents":["HP:0020330"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal blood phosphate concentration"},{"scope":"EXACT","text":"Abnormal phosphate ion level"},{"scope":"EXACT","text":"Abnormality of phosphate homeostasis"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium.","id":"HP:0100530","name":"Abnormal circulating calcium-phosphate regulating hormone concentration","obsolete":false,"parents":["HP:0003117","HP:0033331"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal Ca-PHOS regulating hormone level"},{"scope":"EXACT","text":"Abnormal Ca2+ PO4 regulating hormone level"}]} +{"alt_ids":[],"definition":"The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other.","id":"HP:0100531","name":"Wind-swept deformity of the knees","obsolete":false,"parents":["HP:0002857","HP:0002970"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wind-swept deformity of the knees"}]} +{"alt_ids":[],"definition":"Inflammation of the sclera.","id":"HP:0100532","name":"Scleritis","obsolete":false,"parents":["HP:0000591","HP:0100533"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Inflammation of the outer white part of the eye"}]} +{"alt_ids":["HP:0007891"],"definition":"Inflammation of the eye, parts of the eye or the periorbital region.","id":"HP:0100533","name":"Inflammatory 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canal.","id":"HP:0100541","name":"Femoral hernia","obsolete":false,"parents":["HP:0004299"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Crural hernia"}]} +{"alt_ids":[],"definition":"An abnormal site of the kidney.","id":"HP:0100542","name":"Abnormal localization of kidney","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal localisation of kidneys"}]} +{"alt_ids":["HP:0002128","HP:0002129","HP:0002302","HP:0002337","HP:0002441","HP:0006972","HP:0006998","HP:0007211"],"definition":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","id":"HP:0100543","name":"Cognitive impairment","obsolete":false,"parents":["HP:0011446"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of cognition"},{"scope":"EXACT","text":"Cognitive abnormality"},{"scope":"EXACT","text":"Cognitive defects"},{"scope":"EXACT","text":"Cognitive deficits"},{"scope":"EXACT","text":"Cognitive impairment"},{"scope":"EXACT","text":"Intellectual impairment"}]} +{"alt_ids":[],"definition":"A tumor (abnormal growth of tissue) of the heart.","id":"HP:0100544","name":"Neoplasm of the heart","obsolete":false,"parents":["HP:0001627","HP:0011793"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Cardiac neoplasia"},{"scope":"EXACT","text":"Cardiac neoplasm"},{"scope":"EXACT","text":"Heart tumor"},{"scope":"EXACT","text":"Heart tumour"}]} +{"alt_ids":[],"definition":"Narrowing or constriction of the inner surface (lumen) of an artery.","id":"HP:0100545","name":"Arterial stenosis","obsolete":false,"parents":["HP:0011004"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Narrowing of an artery"}]} +{"alt_ids":[],"definition":"Narrowing of the carotid arteries.","id":"HP:0100546","name":"Carotid artery stenosis","obsolete":false,"parents":["HP:0005344","HP:0100545"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Carotid stenosis"},{"scope":"EXACT","text":"Narrowing of carotid artery"}]} +{"alt_ids":[],"definition":"An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.","id":"HP:0100547","name":"Abnormal forebrain morphology","obsolete":false,"parents":["HP:0012443"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal shape of forebrain"},{"scope":"EXACT","text":"Abnormality of forebrain morphology"},{"scope":"EXACT","text":"Abnormality of the forebrain"}]} +{"alt_ids":[],"definition":"Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall.","id":"HP:0100548","name":"Exstrophy","obsolete":false,"parents":["HP:0004298"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Breakage (tear) of a tendon.","id":"HP:0100550","name":"Tendon rupture","obsolete":false,"parents":["HP:0100261"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rupture of tendons"},{"scope":"EXACT","text":"Ruptured tendon"},{"scope":"EXACT","text":"Tendon rupture"},{"scope":"EXACT","text":"Tendon/muscle rupture"}]} +{"alt_ids":["HP:0012291"],"definition":"A neoplasm of the trachea.","id":"HP:0100551","name":"Neoplasm of the trachea","obsolete":false,"parents":["HP:0002778","HP:0100552"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tracheal neoplasm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100552","name":"Neoplasm of the tracheobronchial system","obsolete":false,"parents":["HP:0005607","HP:0100526"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Overgrowth of only one leg.","id":"HP:0100553","name":"Hemihypertrophy of lower limb","obsolete":false,"parents":["HP:0001528","HP:0010496","HP:0100559"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Overgrowth of one leg"}]} +{"alt_ids":[],"definition":"Overgrowth of only one arm.","id":"HP:0100554","name":"Hemihypertrophy of upper limb","obsolete":false,"parents":["HP:0001528","HP:0010484","HP:0100560"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Overgrowth of one arm"}]} +{"alt_ids":[],"definition":"A growth pattern that displays an abnormal difference between the left and the right side.","id":"HP:0100555","name":"Asymmetric growth","obsolete":false,"parents":["HP:0001507"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uneven or disproportionate growth of one body part compared to another"}]} +{"alt_ids":["HP:0005091","HP:0200051"],"definition":"Undergrowth of the limbs that affects only one side.","id":"HP:0100556","name":"Hemiatrophy","obsolete":false,"parents":["HP:0009826","HP:0100555"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Asymmetric limb shortening"},{"scope":"EXACT","text":"Hemiatrophy of the body"}]} +{"alt_ids":[],"definition":"Unilateral atrophy (reduction in size) of a leg.","id":"HP:0100557","name":"Hemiatrophy of lower limb","obsolete":false,"parents":["HP:0100556","HP:0100559"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Asymmetric lower limb shortening"}]} +{"alt_ids":["HP:0200052"],"definition":"Unilateral atrophy (reduction in size) of an arm.","id":"HP:0100558","name":"Hemiatrophy of upper limb","obsolete":false,"parents":["HP:0100556","HP:0100560"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Asymmetric upper limb shortening"},{"scope":"EXACT","text":"Hemihypotrophy of upper limb"}]} +{"alt_ids":[],"definition":"A difference in length or diameter between the left and right leg.","id":"HP:0100559","name":"Lower limb asymmetry","obsolete":false,"parents":["HP:0002814","HP:0100555"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Left and right leg differ in length or width"},{"scope":"RELATED","text":"Leg length discrepancy"}]} +{"alt_ids":[],"definition":"Difference in length or size between the right and left arm.","id":"HP:0100560","name":"Upper limb 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Results in neurological deficits in lower limb or perineum.","id":"HP:0100563","name":"Diastomatomyelia","obsolete":false,"parents":["HP:0100561"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Triplication of the spinal cord - extremely rare.","id":"HP:0100564","name":"Triplomyelia","obsolete":false,"parents":["HP:0100561"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triplication of spinal cord"}]} +{"alt_ids":[],"definition":"Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo.","id":"HP:0100565","name":"Hydromyelia","obsolete":false,"parents":["HP:0100561"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Congenital absence of the spinal cord.","id":"HP:0100566","name":"Amyelia","obsolete":false,"parents":["HP:0100561"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent spinal cord"}]} +{"alt_ids":[],"definition":"A tumor (abnormal growth of tissue) of the endocrine system.","id":"HP:0100568","name":"Neoplasm of the endocrine system","obsolete":false,"parents":["HP:0000818","HP:0011793"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Endocrine neoplasia"}]} +{"alt_ids":[],"definition":"An abnormality of the formation and mineralization of one or more vertebrae.","id":"HP:0100569","name":"Abnormally ossified vertebrae","obsolete":false,"parents":["HP:0003336","HP:0003468"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal bone maturation of vertebra"},{"scope":"EXACT","text":"Abnormal vertebral ossification"},{"scope":"EXACT","text":"Abnormality of ossification/mineralisation of vertebrae"}]} +{"alt_ids":[],"definition":"A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin.","id":"HP:0100570","name":"Carcinoid tumor","obsolete":false,"parents":["HP:0100634"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Carcinoid"},{"scope":"RELATED","text":"Carcinoid tumors"},{"scope":"EXACT","text":"Carcinoid tumour"},{"scope":"RELATED","text":"Carcinoid tumours"}]} +{"alt_ids":[],"definition":"A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular.","id":"HP:0100571","name":"Cardiac diverticulum","obsolete":false,"parents":["HP:0001713"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ventricular diverticulum"}]} +{"alt_ids":[],"definition":"A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly.","id":"HP:0100572","name":"Fibrous cardiac diverticulum","obsolete":false,"parents":["HP:0006698","HP:0100571"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital ventricular aneurysm"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100573","name":"Muscular cardiac diverticulum","obsolete":false,"parents":["HP:0100571"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0030152"],"definition":"A tumor (abnormal growth of tissue) of the biliary system.","id":"HP:0100574","name":"Biliary tract neoplasm","obsolete":false,"parents":["HP:0007378","HP:0012440"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Neoplasia of the biliary tract"}]} +{"alt_ids":[],"definition":"The presence of a neoplasm of the gallbladder.","id":"HP:0100575","name":"Neoplasm of the gallbladder","obsolete":false,"parents":["HP:0012437","HP:0100574"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Neoplasia of the gallbladder"}]} +{"alt_ids":[],"definition":"A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition.","id":"HP:0100576","name":"Amaurosis fugax","obsolete":false,"parents":["HP:0000504"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the urinary bladder.","id":"HP:0100577","name":"Urinary bladder inflammation","obsolete":false,"parents":["HP:0012649","HP:0025487"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cystitis of the urinary bladder"},{"scope":"EXACT","text":"Urinary bladder inflammation"}]} +{"alt_ids":[],"definition":"Localized loss of fat tissue.","id":"HP:0100578","name":"Lipoatrophy","obsolete":false,"parents":["HP:0009125"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atrophy of fat"},{"scope":"EXACT","text":"Loss of fat tissue in localised area"},{"scope":"EXACT","text":"Loss of fat tissue in localized area"}]} +{"alt_ids":[],"definition":"Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs.","id":"HP:0100579","name":"Mucosal telangiectasiae","obsolete":false,"parents":["HP:0001009"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system.","id":"HP:0100580","name":"Barrett esophagus","obsolete":false,"parents":["HP:0100751"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Barret syndrome"},{"scope":"EXACT","text":"Barrett oesophagus"},{"scope":"EXACT","text":"Barrett's esophagus"},{"scope":"EXACT","text":"Barrett's oesophagus"},{"scope":"EXACT","text":"Endobrachyesophagus"}]} +{"alt_ids":[],"definition":"An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine.","id":"HP:0100581","name":"Dilatation of renal calices","obsolete":false,"parents":["HP:0011130"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Caliceal dilatation"},{"scope":"EXACT","text":"Caliectasis"},{"scope":"RELATED","text":"Megacalicosis"}]} +{"alt_ids":["HP:0000462"],"definition":"Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.","id":"HP:0100582","name":"Nasal polyposis","obsolete":false,"parents":["HP:0000433"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nasal polyps"},{"scope":"EXACT","text":"Polyposis nasi"},{"scope":"EXACT","text":"Polyps of nose"}]} +{"alt_ids":["HP:0100793"],"definition":"A rupture of the cornea through which a portion of the iris protrudes.","id":"HP:0100583","name":"Corneal perforation","obsolete":false,"parents":["HP:0000481"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Iridocele"}]} +{"alt_ids":[],"definition":"An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves.","id":"HP:0100584","name":"Endocarditis","obsolete":false,"parents":["HP:0004306","HP:0012649"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0007561"],"definition":"Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.","id":"HP:0100585","name":"Telangiectasia of the skin","obsolete":false,"parents":["HP:0001009"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Teleangiectasia of the skin"}]} +{"alt_ids":[],"definition":"Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria.","id":"HP:0100586","name":"Sterile pyuria","obsolete":false,"parents":["HP:0012085"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aseptic leukocyturia"}]} +{"alt_ids":[],"definition":"An abnormality of the retractable fold of skin that covers the tip of the penis.","id":"HP:0100587","name":"Abnormal preputium morphology","obsolete":false,"parents":["HP:0000036"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the preputium"}]} +{"alt_ids":[],"definition":"The foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis.","id":"HP:0100588","name":"Paraphimosis","obsolete":false,"parents":["HP:0100587"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a fistula affecting the genitourinary system.","id":"HP:0100589","name":"Urogenital fistula","obsolete":false,"parents":["HP:0000119"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a fistula affecting the rectum.","id":"HP:0100590","name":"Rectal fistula","obsolete":false,"parents":["HP:0002034","HP:0100589","HP:0100819"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of an abscess of the peritoneum.","id":"HP:0100592","name":"Peritoneal abscess","obsolete":false,"parents":["HP:0002585","HP:0025615"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of calcium deposition in cartilage.","id":"HP:0100593","name":"Calcification of cartilage","obsolete":false,"parents":["HP:0002763","HP:0010766"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare).","id":"HP:0100594","name":"Esophageal web","obsolete":false,"parents":["HP:0002031"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders.","id":"HP:0100595","name":"Camptocormia","obsolete":false,"parents":["HP:0010674"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0100597"],"definition":"The nostrils (the paired channels of the nose) are not present.","id":"HP:0100596","name":"Absent nares","obsolete":false,"parents":["HP:0005288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abouphalia"},{"scope":"EXACT","text":"Aplasia of the nares"},{"scope":"RELATED","text":"Aplasia/Hypoplasia of the nares"},{"scope":"EXACT","text":"Missing nostrils"}]} +{"alt_ids":[],"definition":"Fluid accumulation in the lungs.","id":"HP:0100598","name":"Pulmonary edema","obsolete":false,"parents":["HP:0000969","HP:0002088"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excess fluid in lungs"},{"scope":"EXACT","text":"Lung edema"},{"scope":"EXACT","text":"Lung oedema"},{"scope":"EXACT","text":"Wet lung"}]} +{"alt_ids":[],"definition":"Two penile structures, separated from the tip to the base of the shaft.","id":"HP:0100599","name":"Bifid penis","obsolete":false,"parents":["HP:0000036"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Diphallia"},{"scope":"EXACT","text":"Penile duplication"}]} +{"alt_ids":[],"definition":"A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis.","id":"HP:0100600","name":"Penoscrotal transposition","obsolete":false,"parents":["HP:0000036","HP:0000045"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prepenile scrotum"}]} +{"alt_ids":[],"definition":"An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders.","id":"HP:0100601","name":"Eclampsia","obsolete":false,"parents":["HP:0100603"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pregnancy-induced hypertension in association with significant amounts of protein in the urine.","id":"HP:0100602","name":"Preeclampsia","obsolete":false,"parents":["HP:0100603"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pre-eclampsia"}]} +{"alt_ids":[],"definition":"Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia.","id":"HP:0100603","name":"Toxemia of pregnancy","obsolete":false,"parents":["HP:0002686"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypertensive disorder of pregnancy"},{"scope":"EXACT","text":"Toxaemia of pregnancy"}]} +{"alt_ids":[],"definition":"A tumor (abnormal growth of tissue) of the lip.","id":"HP:0100604","name":"Neoplasm of the lip","obsolete":false,"parents":["HP:0000159","HP:0011793"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lip tumor"},{"scope":"EXACT","text":"Lip tumour"},{"scope":"RELATED","text":"Neoplasia of the lip"},{"scope":"RELATED","text":"Tumor of the lip"},{"scope":"RELATED","text":"Tumour of the lip"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100605","name":"Neoplasm of the larynx","obsolete":false,"parents":["HP:0001600","HP:0100606"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tumor (abnormal growth of tissue) of the respiratory system.","id":"HP:0100606","name":"Neoplasm of the respiratory system","obsolete":false,"parents":["HP:0002086","HP:0011793"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Respiratory system tumor"},{"scope":"EXACT","text":"Respiratory system tumour"}]} +{"alt_ids":[],"definition":"Pain during menstruation that interferes with daily activities.","id":"HP:0100607","name":"Dysmenorrhea","obsolete":false,"parents":["HP:0000140","HP:0012531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Painful menstruation"}]} +{"alt_ids":[],"definition":"Bleeding at irregular intervals.","id":"HP:0100608","name":"Metrorrhagia","obsolete":false,"parents":["HP:0000140"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal uterus bleeding"},{"scope":"EXACT","text":"Intermenstrual bleeding"},{"scope":"EXACT","text":"Menstrual spotting"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100609","name":"obsolete Hypermenorrhea","obsolete":true,"parents":[],"replaced_by":["HP:0000132"],"synonyms":[]} +{"alt_ids":[],"definition":"A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy.","id":"HP:0100610","name":"Maternal hyperphenylalaninemia","obsolete":false,"parents":["HP:0002686"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High blood phenylalanine level in mother"}]} +{"alt_ids":[],"definition":"The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule.","id":"HP:0100611","name":"Multiple glomerular cysts","obsolete":false,"parents":["HP:0000095"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Glomerulocystic kidney disease"}]} +{"alt_ids":[],"definition":"Neoplasm involving odontogenic cells, an odontogenic tumor.","id":"HP:0100612","name":"Odontogenic neoplasm","obsolete":false,"parents":["HP:0000164","HP:0100649"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Odontogenic tumor"},{"scope":"EXACT","text":"Odontogenic tumour"}]} +{"alt_ids":[],"definition":"Death between the age of 16 and 40 years.","id":"HP:0100613","name":"Death in early 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This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). 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One, two, or all three branches of the nerve may be affected.","id":"HP:0100661","name":"Trigeminal neuralgia","obsolete":false,"parents":["HP:0031911","HP:0033345"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tic douloureux"}]} +{"alt_ids":[],"definition":"Inflammation of cartilage.","id":"HP:0100662","name":"Chondritis","obsolete":false,"parents":["HP:0002763","HP:0012649"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cartilage inflammation"}]} +{"alt_ids":[],"definition":"A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw.","id":"HP:0100663","name":"Synotia","obsolete":false,"parents":["HP:0000357"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0100666"],"definition":"Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. 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.","id":"HP:0100695","name":"Lipedema","obsolete":false,"parents":["HP:0009126"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas (STS) with nerve sheath differentiation and a tendency to metastasize.","id":"HP:0100697","name":"Malignant peripheral nerve sheath tumor","obsolete":false,"parents":["HP:0030448"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Malignant peripheral nerve sheath tumour"},{"scope":"EXACT","text":"Malignant schwannoma"},{"scope":"EXACT","text":"Neurofibrosarcoma"}]} +{"alt_ids":[],"definition":"A neurofibroma (benign peripheral nerve sheath tumor) localized in the subcutis (subcutaneous region).","id":"HP:0100698","name":"Subcutaneous neurofibroma","obsolete":false,"parents":["HP:0034761"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed.","id":"HP:0100699","name":"Scarring","obsolete":false,"parents":["HP:0003549"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Scar tissue"},{"scope":"EXACT","text":"Scarring"}]} +{"alt_ids":[],"definition":"An abnormality of the Arachnoid mater.","id":"HP:0100700","name":"Abnormal arachnoid mater morphology","obsolete":false,"parents":["HP:0010651"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the arachnoid mater"},{"scope":"EXACT","text":"Abnormality of the arachnoidea"}]} +{"alt_ids":[],"definition":"An abnormality of the pia mater.","id":"HP:0100701","name":"Abnormal pia mater","obsolete":false,"parents":["HP:0010651"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the pia mater"}]} +{"alt_ids":[],"definition":"An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.","id":"HP:0100702","name":"Arachnoid 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cell.","id":"HP:0100705","name":"Abnormal glial cell morphology","obsolete":false,"parents":["HP:0012639"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the glial cells"}]} +{"alt_ids":[],"definition":"One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers.","id":"HP:0100706","name":"Abnormal oligodendroglia morphology","obsolete":false,"parents":["HP:0100705"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the oligodendroglia"}]} +{"alt_ids":[],"definition":"An abnormality of astrocytes.","id":"HP:0100707","name":"Abnormal astrocyte morphology","obsolete":false,"parents":["HP:0100705"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the astrocytes"}]} +{"alt_ids":[],"definition":"An abnormality of the microglial cells. 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The possibility of repression is inconceivable.","id":"HP:0100710","name":"Impulsivity","obsolete":false,"parents":["HP:0000734"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Impulsive"},{"scope":"EXACT","text":"Impulsivity"}]} +{"alt_ids":[],"definition":"An abnormality of the thoracic vertebral column.","id":"HP:0100711","name":"Abnormal thoracic spine morphology","obsolete":false,"parents":["HP:0000765","HP:0000925"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the thoracic spine"}]} +{"alt_ids":[],"definition":"Any structural abnormality of the lumbar vertebral column.","id":"HP:0100712","name":"Abnormal lumbar spine morphology","obsolete":false,"parents":["HP:0000925"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the lumbar spine"}]} +{"alt_ids":[],"definition":"Self-aggression.","id":"HP:0100716","name":"Self-injurious behavior","obsolete":false,"parents":["HP:5200241"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Autoagression"},{"scope":"EXACT","text":"Self injury"},{"scope":"EXACT","text":"Self-harm"},{"scope":"EXACT","text":"Self-injurious behavior"},{"scope":"EXACT","text":"Self-injurious behaviors"},{"scope":"EXACT","text":"Self-injurious behaviours"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root).","id":"HP:0100717","name":"Abnormal cementum morphology","obsolete":false,"parents":["HP:0011061","HP:3000050"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the cementum"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100718","name":"Uterine rupture","obsolete":false,"parents":["HP:0031105"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence.","id":"HP:0100719","name":"Lens coloboma","obsolete":false,"parents":["HP:0000589","HP:0008063"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0100720","name":"Hypoplasia of the ear cartilage","obsolete":false,"parents":["HP:0008772"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Underdeveloped ear cartilage"}]} +{"alt_ids":[],"definition":"Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.","id":"HP:0100721","name":"Mediastinal lymphadenopathy","obsolete":false,"parents":["HP:0002716","HP:0045026"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Swollen lymph nodes in center of chest"},{"scope":"EXACT","text":"Swollen lymph nodes in centre of chest"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100723","name":"Gastrointestinal stroma tumor","obsolete":false,"parents":["HP:0007378"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"GI stroma tumor"},{"scope":"EXACT","text":"GI stroma tumour"},{"scope":"EXACT","text":"GIST"},{"scope":"EXACT","text":"Gastrointestinal stroma tumour"},{"scope":"EXACT","text":"Gastrointestinal stromal tumor"},{"scope":"RELATED","text":"Gastrointestinal stromal tumors"},{"scope":"EXACT","text":"Gastrointestinal stromal tumour"},{"scope":"RELATED","text":"Gastrointestinal stromal tumours"}]} +{"alt_ids":[],"definition":"An abnormality of coagulation associated with an increased risk of thrombosis.","id":"HP:0100724","name":"Hypercoagulability","obsolete":false,"parents":["HP:0001928"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blood hyperviscosity"},{"scope":"EXACT","text":"Thrombophilia"}]} +{"alt_ids":[],"definition":"Thickening and hardening of the epidermis seen with exaggeration of normal skin lines.","id":"HP:0100725","name":"Lichenification","obsolete":false,"parents":["HP:0011121"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV).","id":"HP:0100726","name":"Kaposi's sarcoma","obsolete":false,"parents":["HP:0008069"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An excessive number of histiocytes (tissue macrophages).","id":"HP:0100727","name":"Histiocytosis","obsolete":false,"parents":["HP:0004311"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0100728","name":"Germ cell neoplasia","obsolete":false,"parents":["HP:0010785"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0100729","name":"Large face","obsolete":false,"parents":["HP:0001999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Big face"},{"scope":"EXACT","text":"Large face"},{"scope":"EXACT","text":"Large facies"}]} +{"alt_ids":[],"definition":"A rare congenital cystic lesion of the lungs in the mediastinum.","id":"HP:0100730","name":"Bronchogenic 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purge"}]} +{"alt_ids":[],"definition":"A benign or malignant neoplasm (tumor) originating in the vascular system.","id":"HP:0100742","name":"Vascular neoplasm","obsolete":false,"parents":["HP:0002597","HP:0011793"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blood vessel tumor"},{"scope":"EXACT","text":"Blood vessel tumour"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100743","name":"Neoplasm of the rectum","obsolete":false,"parents":["HP:0002034","HP:0100834"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rectal tumor"},{"scope":"EXACT","text":"Rectal tumour"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100744","name":"Abnormality of the humeroradial joint","obsolete":false,"parents":["HP:0020300"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint.","id":"HP:0100745","name":"Abnormality of the humeroulnar 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chest.","id":"HP:0100749","name":"Chest pain","obsolete":false,"parents":["HP:0012531"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Chest discomfort"},{"scope":"EXACT","text":"Chest pain"},{"scope":"EXACT","text":"Thoracic pain"}]} +{"alt_ids":[],"definition":"Collapse of part of a lung associated with absence of inflation (air) of that part.","id":"HP:0100750","name":"Atelectasis","obsolete":false,"parents":["HP:0031983"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Partial or complete collapse of part or entire lung"},{"scope":"EXACT","text":"Pulmonary atelectasis"}]} +{"alt_ids":[],"definition":"A tumor (abnormal growth of tissue) of the esophagus.","id":"HP:0100751","name":"Esophageal neoplasm","obsolete":false,"parents":["HP:0002031","HP:0007378","HP:0012288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Esophageal tumor"},{"scope":"EXACT","text":"Esophageal tumour"}]} +{"alt_ids":[],"definition":"Formation of abnormal lobules (small masses of tissue) in the liver.","id":"HP:0100752","name":"Abnormal liver lobulation","obsolete":false,"parents":["HP:0030146"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anomalous liver lobulation"},{"scope":"EXACT","text":"Hepatic anomalous lobulation"},{"scope":"EXACT","text":"Liver lobation abnormal"}]} +{"alt_ids":[],"definition":"A mental disorder characterized by a disintegration of thought processes and emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking. It is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 1%. This term is not a helpful parent term to describe abnormal experiences.","id":"HP:0100753","name":"Schizophrenia","obsolete":false,"parents":["HP:0025783"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A state of abnormally elevated or irritable mood, arousal, and/or energy levels.","id":"HP:0100754","name":"Mania","obsolete":false,"parents":["HP:0100851","HP:5200263"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypomania"},{"scope":"EXACT","text":"Hypomanic"},{"scope":"EXACT","text":"Manic"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100755","name":"Abnormality of salivation","obsolete":false,"parents":["HP:0031815"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal spit"},{"scope":"EXACT","text":"Abnormality of salivation"}]} +{"alt_ids":[],"definition":"A rare pediatric carcinoma of the pancreas.","id":"HP:0100757","name":"Pancreatoblastoma","obsolete":false,"parents":["HP:0002894"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis).","id":"HP:0100758","name":"Gangrene","obsolete":false,"parents":["HP:0025142"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Death of body tissue due to lack of blood flow or infection"}]} +{"alt_ids":[],"definition":"Terminal broadening of the fingers (distal phalanges of the fingers).","id":"HP:0100759","name":"Clubbing of fingers","obsolete":false,"parents":["HP:0001211","HP:0001217"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Clubbed fingers"},{"scope":"EXACT","text":"Clubbing (hands)"},{"scope":"EXACT","text":"Clubbing of fingers"},{"scope":"EXACT","text":"Finger clubbing"}]} +{"alt_ids":[],"definition":"Terminal broadening of the toes (distal phalanges of the toes).","id":"HP:0100760","name":"Clubbing of toes","obsolete":false,"parents":["HP:0001217","HP:0010161"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Clubbed toes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100761","name":"Visceral angiomatosis","obsolete":false,"parents":["HP:0007461"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bleeding into the biliary tree.","id":"HP:0100762","name":"Hemobilia","obsolete":false,"parents":["HP:0012439"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Haemobilia"}]} +{"alt_ids":["HP:0003012"],"definition":"An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.","id":"HP:0100763","name":"Abnormality of the lymphatic system","obsolete":false,"parents":["HP:0002597","HP:0002715"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Lymphatic disease"}]} +{"alt_ids":[],"definition":"Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor.","id":"HP:0100764","name":"Lymphangioma","obsolete":false,"parents":["HP:0100763"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the tonsils.","id":"HP:0100765","name":"Abnormality of the tonsils","obsolete":false,"parents":["HP:0100763"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the vessel that contains or conveys lymph fluid.","id":"HP:0100766","name":"Abnormal lymphatic vessel morphology","obsolete":false,"parents":["HP:0025015","HP:0100763"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the lymphatic vessels"}]} +{"alt_ids":[],"definition":"An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange.","id":"HP:0100767","name":"Abnormal placenta morphology","obsolete":false,"parents":["HP:0001194"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the placenta"},{"scope":"EXACT","text":"Placental issue"}]} +{"alt_ids":[],"definition":"A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors.","id":"HP:0100768","name":"Choriocarcinoma","obsolete":false,"parents":["HP:0031502","HP:0100767"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0100769","name":"Synovitis","obsolete":false,"parents":["HP:0005262"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine.","id":"HP:0100770","name":"Hyperperistalsis","obsolete":false,"parents":["HP:0030914"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Stomach churning"}]} +{"alt_ids":[],"definition":"Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.","id":"HP:0100771","name":"Hypoperistalsis","obsolete":false,"parents":["HP:0030914"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Intestinal hypoperistalsis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100773","name":"Cartilage destruction","obsolete":false,"parents":["HP:0002763"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cartilage destruction"}]} +{"alt_ids":[],"definition":"Excessive growth or abnormal thickening of bone tissue.","id":"HP:0100774","name":"Hyperostosis","obsolete":false,"parents":["HP:0011842"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bone Hypertrophy"},{"scope":"EXACT","text":"Bone overgrowth"}]} +{"alt_ids":[],"definition":"A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level.","id":"HP:0100775","name":"Dural ectasia","obsolete":false,"parents":["HP:0010303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to pharyngitis, as manifested by recurrent episodes of pharyngeal infection that are unusual in frequency or severity for a healthy individual of the same age.","id":"HP:0100776","name":"Recurrent pharyngitis","obsolete":false,"parents":["HP:0002788","HP:0020343"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic pharyngitis"},{"scope":"EXACT","text":"Persistent pharyngitis"},{"scope":"EXACT","text":"Pharyngitis, recurrent"},{"scope":"EXACT","text":"Recurrent sore throat"}]} +{"alt_ids":[],"definition":"An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.","id":"HP:0100777","name":"Exostoses","obsolete":false,"parents":["HP:0010622"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Formation of new noncancerous bone on top of existing bone"}]} +{"alt_ids":[],"definition":"Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius.","id":"HP:0100778","name":"Cryoglobulinemia","obsolete":false,"parents":["HP:0005368"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cryoprecipitable immune complexes"}]} +{"alt_ids":[],"definition":"A rare birth defect in women where the urethra and vagina both open into a common channel.","id":"HP:0100779","name":"Urogenital sinus anomaly","obsolete":false,"parents":["HP:0000142","HP:0000795"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A hamartoma (disordered proliferation of mature tissues) of the conjunctiva.","id":"HP:0100780","name":"Conjunctival hamartoma","obsolete":false,"parents":["HP:0000502","HP:0010568"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip 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palate.","id":"HP:0100789","name":"Torus palatinus","obsolete":false,"parents":["HP:0100737"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Maxillary torus"},{"scope":"EXACT","text":"Palatal tori"},{"scope":"EXACT","text":"Palatal torus"},{"scope":"EXACT","text":"Palate exostoses"},{"scope":"RELATED","text":"Prominent midpalatal ridge"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100790","name":"Hernia","obsolete":false,"parents":["HP:0003549"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Hernias"}]} +{"alt_ids":[],"definition":"The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.","id":"HP:0100792","name":"Acantholysis","obsolete":false,"parents":["HP:0011124"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Nikolsky's sign"}]} +{"alt_ids":[],"definition":"The absence of the normal curvature of the vertebral column.","id":"HP:0100795","name":"Abnormally straight 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This feature may be due to intestinal malrotation.","id":"HP:0100802","name":"Malposition of the stomach","obsolete":false,"parents":["HP:0002577"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal stomach location"},{"scope":"EXACT","text":"Gastric ectopia"},{"scope":"EXACT","text":"Gastric malposition"}]} +{"alt_ids":[],"definition":"An abnormality of the region around the nails of the fingers or toes.","id":"HP:0100803","name":"Abnormal periungual morphology","obsolete":false,"parents":["HP:0001597","HP:0011356"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the periungual region"}]} +{"alt_ids":[],"definition":"Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate).","id":"HP:0100804","name":"Ungual fibroma","obsolete":false,"parents":["HP:0010614","HP:0100803","HP:0100826"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Koenen tumor"},{"scope":"EXACT","text":"Koenen tumour"},{"scope":"EXACT","text":"Koenen's tumor"},{"scope":"EXACT","text":"Koenen's tumour"},{"scope":"EXACT","text":"Parungual fibromas"},{"scope":"EXACT","text":"Periungual fibroma"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100805","name":"obsolete Precocious menopause","obsolete":true,"parents":[],"replaced_by":["HP:0008209"],"synonyms":[]} +{"alt_ids":[],"definition":"Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection.","id":"HP:0100806","name":"Sepsis","obsolete":false,"parents":["HP:0032101"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Infection in blood stream"}]} +{"alt_ids":["HP:0006010"],"definition":"The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand.","id":"HP:0100807","name":"Long fingers","obsolete":false,"parents":["HP:0001167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Long fingers"}]} +{"alt_ids":[],"definition":"An outpouching of the gastric wall.","id":"HP:0100808","name":"Gastric diverticulum","obsolete":false,"parents":["HP:0002577"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Stomach diverticulum"}]} +{"alt_ids":[],"definition":"Pain or discomfort of the scalp elicited by palpation.","id":"HP:0100809","name":"Scalp tenderness","obsolete":false,"parents":["HP:0001965"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Allodynia of scalp"},{"scope":"EXACT","text":"Scalp hypersensitivity"},{"scope":"BROAD","text":"Scalp pain"},{"scope":"EXACT","text":"Scalp tenderness"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100810","name":"Pointed helix","obsolete":false,"parents":["HP:0011039"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elfin ear"},{"scope":"BROAD","text":"Pointed ear"},{"scope":"EXACT","text":"Spock ear"},{"scope":"EXACT","text":"Spock's ear"},{"scope":"EXACT","text":"Vulcan ear"}]} +{"alt_ids":[],"definition":"Congenital absence or underdevelopment of the colon.","id":"HP:0100811","name":"Aplasia/Hypoplasia of the colon","obsolete":false,"parents":["HP:0002250","HP:0005245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent/small colon"},{"scope":"EXACT","text":"Absent/underdeveloped colon"}]} +{"alt_ids":[],"definition":"Noticeably unpleasant odors exhaled in breathing.","id":"HP:0100812","name":"Halitosis","obsolete":false,"parents":["HP:0025142","HP:0031815"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bad breath"},{"scope":"EXACT","text":"Foetor ex ore"}]} +{"alt_ids":[],"definition":"Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain.","id":"HP:0100813","name":"Testicular torsion","obsolete":false,"parents":["HP:0000035"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spermatic cord torsion"}]} +{"alt_ids":[],"definition":"A solitary, bluish, smooth surfaced macule, papule or plaque that is generally round or oval in shape. The histopathology of blue nevi varies by subtype, but general characteristics include a vertical wedge or bulbous shaped proliferation of spindle cells, dendritic melanocytes, and melanophages into a sclerotic dermis or subcutis.","id":"HP:0100814","name":"Blue nevus","obsolete":false,"parents":["HP:0003764"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Congenital dermal melanocytosis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100816","name":"Lip hyperpigmentation","obsolete":false,"parents":["HP:0007400","HP:0032453"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Darkening of skin of the lips"},{"scope":"EXACT","text":"Hyperpigmentation of lip vermillion"},{"scope":"EXACT","text":"Increased pigmentation on the lips"}]} +{"alt_ids":["HP:0008741"],"definition":"The presence of hypertension related to stenosis of the renal artery.","id":"HP:0100817","name":"Renovascular hypertension","obsolete":false,"parents":["HP:0000822","HP:0012211"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypertension due to renal artery hyperplasia"}]} +{"alt_ids":[],"definition":"Increased inferior to superior extent of the thorax.","id":"HP:0100818","name":"Long thorax","obsolete":false,"parents":["HP:0100625"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Long rib cage"}]} +{"alt_ids":[],"definition":"An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract.","id":"HP:0100819","name":"Intestinal fistula","obsolete":false,"parents":["HP:0002242"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0008636"],"definition":"Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.","id":"HP:0100820","name":"Glomerulopathy","obsolete":false,"parents":["HP:0000095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Diseased glomeruli"}]} +{"alt_ids":[],"definition":"The prolapse of the female urethra into the vagina.","id":"HP:0100821","name":"Urethrocele","obsolete":false,"parents":["HP:0000795","HP:0031607"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy.","id":"HP:0100822","name":"Rectocele","obsolete":false,"parents":["HP:0002035","HP:0031607"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0100823","name":"Genital hernia","obsolete":false,"parents":["HP:0100790"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the lip.","id":"HP:0100825","name":"Cheilitis","obsolete":false,"parents":["HP:0000159"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inflammation of the lips"},{"scope":"RELATED","text":"Red and sore lips"}]} +{"alt_ids":[],"definition":"A tumor (abnormal growth of tissue) of the nail.","id":"HP:0100826","name":"Neoplasm of the nail","obsolete":false,"parents":["HP:0001597","HP:0011793"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nail tumor"},{"scope":"EXACT","text":"Nail tumour"}]} +{"alt_ids":["HP:0012141"],"definition":"Increase in the number or proportion of lymphocytes in the blood.","id":"HP:0100827","name":"Increased total lymphocyte count","obsolete":false,"parents":["HP:0040088"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High lymphocyte count"},{"scope":"EXACT","text":"Lymphocytosis"}]} +{"alt_ids":[],"definition":"Abnormal increase in the absolute number of T cells, commonly characterized as CD3+ lymphocytes, per microliter of blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells.","id":"HP:0100828","name":"Increased total T cell count","obsolete":false,"parents":["HP:5210412"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CD3+ T-cell lymphocytosis"},{"scope":"EXACT","text":"Increase in T cell count"},{"scope":"EXACT","text":"Increased absolute T cell count"},{"scope":"EXACT","text":"T cell lymphocytosis"}]} +{"alt_ids":[],"definition":"Spontaneous flow of milk from the breast, unassociated with childbirth or nursing.","id":"HP:0100829","name":"Galactorrhea","obsolete":false,"parents":["HP:0031094"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Galactorrhoea"},{"scope":"EXACT","text":"Spontaneous milk flow from breast"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100830","name":"Round ear","obsolete":false,"parents":["HP:0000377"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Round ear"}]} +{"alt_ids":[],"definition":"The concentration of vitamin K in the blood circulation is outside the limits of normal.","id":"HP:0100831","name":"Abnormal circulating vitamin K concentration","obsolete":false,"parents":["HP:0020350"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of vitamin K metabolism"}]} +{"alt_ids":[],"definition":"Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent.","id":"HP:0100832","name":"Vitreous floaters","obsolete":false,"parents":["HP:0004327","HP:6001103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eye floaters"},{"scope":"EXACT","text":"Flitting flies"},{"scope":"EXACT","text":"Mouches volantes"},{"scope":"EXACT","text":"Myodeopsia"},{"scope":"EXACT","text":"Myodesopsia"},{"scope":"EXACT","text":"Spots in front of eyes"},{"scope":"EXACT","text":"Vitreous condensations"},{"scope":"EXACT","text":"Vitreous debris"},{"scope":"EXACT","text":"Vitreous opacities"},{"scope":"EXACT","text":"Vitreous veils"}]} +{"alt_ids":[],"definition":"The presence of a neoplasm of the small intestine.","id":"HP:0100833","name":"Neoplasm of the small intestine","obsolete":false,"parents":["HP:0007378"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small intestine tumor"},{"scope":"EXACT","text":"Small intestine tumour"}]} +{"alt_ids":[],"definition":"The presence of a neoplasm of the large intestine.","id":"HP:0100834","name":"Neoplasm of the large intestine","obsolete":false,"parents":["HP:0002250","HP:0007378"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Large intestine tumor"},{"scope":"EXACT","text":"Large intestine tumour"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100835","name":"Benign neoplasm of the central nervous system","obsolete":false,"parents":["HP:0100006"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Benign neoplasm of the CNS"}]} +{"alt_ids":[],"definition":"An abnormal growth of cells within the brain or spinal cord that exhibits aggressive behavior, rapid cellular proliferation, and the capacity to invade surrounding healthy neural tissue.","id":"HP:0100836","name":"Malignant neoplasm of the central nervous system","obsolete":false,"parents":["HP:0100006"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Malignant neoplasm of the CNS"}]} +{"alt_ids":[],"definition":"Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions.","id":"HP:0100837","name":"Atrophodermia vermiculata","obsolete":false,"parents":["HP:0000987","HP:0011799"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vermiculata atrophoderma"}]} +{"alt_ids":[],"definition":"An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.","id":"HP:0100838","name":"Recurrent cutaneous abscess formation","obsolete":false,"parents":["HP:0002722","HP:0005406","HP:0031292"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the liver owing to a failure of the liver to develop.","id":"HP:0100839","name":"Hepatic agenesis","obsolete":false,"parents":["HP:0034181"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Failed liver development"},{"scope":"EXACT","text":"Liver agenesis"}]} +{"alt_ids":[],"definition":"Absence or underdevelopment of the eyebrow.","id":"HP:0100840","name":"Aplasia/Hypoplasia of the eyebrow","obsolete":false,"parents":["HP:0000534"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Sparse or absent eyebrows"},{"scope":"RELATED","text":"Sparse to absent eyebrows"},{"scope":"RELATED","text":"Sparse/absent eyebrows"}]} +{"alt_ids":[],"definition":"A developmental anomaly with a small tubular or saccular midline stomach.","id":"HP:0100841","name":"Microgastria","obsolete":false,"parents":["HP:0002577"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of the optic nerve and absence of the septum pellucidum.","id":"HP:0100842","name":"Septo-optic dysplasia","obsolete":false,"parents":["HP:0000609","HP:0001331"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"De Morsier syndrome"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100843","name":"obsolete Glioblastoma","obsolete":true,"parents":[],"replaced_by":["HP:0012174"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0100844","name":"Pancreatic fistula","obsolete":false,"parents":["HP:0012090"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An acute hypersensitivity reaction due to exposure to a previously encountered antigen.","id":"HP:0100845","name":"Anaphylactic shock","obsolete":false,"parents":["HP:0100326"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anaphylactic reaction"},{"scope":"EXACT","text":"Anaphylactoid-type reaction"},{"scope":"EXACT","text":"Anaphylaxis"}]} +{"alt_ids":[],"definition":"A chronic, relapsing, pustular eruption that is localized to the palms and soles.","id":"HP:0100847","name":"Palmoplantar pustulosis","obsolete":false,"parents":["HP:0011356","HP:0200039"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Palmoplantar pustules"},{"scope":"EXACT","text":"Pustulosis of palms and soles"},{"scope":"EXACT","text":"Pustulosis palmaris et plantaris"}]} +{"alt_ids":[],"definition":"A tumor (abnormal growth of tissue) of the male external genitalia.","id":"HP:0100848","name":"Neoplasm of the male external genitalia","obsolete":false,"parents":["HP:0000032","HP:0033019"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neoplasia of the male external genitalia"}]} +{"alt_ids":[],"definition":"A tumor (abnormal growth of tissue) of the scrotum.","id":"HP:0100849","name":"Neoplasm of the scrotum","obsolete":false,"parents":["HP:0000045","HP:0100848"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neoplasia of the scrotum"},{"scope":"EXACT","text":"Scrotum tumor"},{"scope":"EXACT","text":"Scrotum tumour"}]} +{"alt_ids":[],"definition":"A tumor (abnormal growth of tissue) of the penis.","id":"HP:0100850","name":"Neoplasm of the penis","obsolete":false,"parents":["HP:0000036","HP:0100848"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neoplasia of the penis"},{"scope":"EXACT","text":"Penis tumor"},{"scope":"EXACT","text":"Penis tumour"}]} +{"alt_ids":[],"definition":"A disturbance in the experience or expression of emotion, characterized by alterations in valence, intensity, frequency, or duration. It may also involve emotional responses that are mismatched, exaggerated, or incongruent relative to internal expectations or external contextual stimuli, such as experiencing negative affect in response to neutral or positive events.","id":"HP:0100851","name":"Abnormal emotional state","obsolete":false,"parents":["HP:0025766"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Affective dysregulation"},{"scope":"BROAD","text":"Emotional dysregulation"},{"scope":"BROAD","text":"Mood disturbance"},{"scope":"BROAD","text":"Psychological distress"}]} +{"alt_ids":["HP:0001296"],"definition":"An abnormal fear-induced behavior includes observable actions. This behavior is characterized by abnormal responses to fear or abnormal fear levels. Examples of such behavior include avoiding fear-inducing situations.","id":"HP:0100852","name":"Abnormal fear-induced behavior","obsolete":false,"parents":["HP:5200241"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal fear/anxiety-related behavior"},{"scope":"EXACT","text":"Abnormal fear/anxiety-related behaviour"}]} +{"alt_ids":["HP:0006609"],"definition":"Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple.","id":"HP:0100853","name":"Hypoplastic areola","obsolete":false,"parents":["HP:0032314"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic areolae"}]} +{"alt_ids":[],"definition":"Absence of the musculature.","id":"HP:0100854","name":"Aplasia of the musculature","obsolete":false,"parents":["HP:0001460"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent musculature"}]} +{"alt_ids":[],"definition":"Hypoplasia of the triceps muscle.","id":"HP:0100855","name":"Triceps 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+{"alt_ids":[],"definition":"Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery .","id":"HP:0100859","name":"Dilatation of superior mesenteric artery","obsolete":false,"parents":["HP:0011934"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Superior mesenteric artery aneurysm"}]} +{"alt_ids":[],"definition":"Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery .","id":"HP:0100860","name":"Dilatation of Inferior mesenteric artery","obsolete":false,"parents":["HP:0011934"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Inferior mesenteric artery aneurysm"}]} +{"alt_ids":["HP:0004578"],"definition":"Increase in bone density of the vertebral body.","id":"HP:0100861","name":"Sclerotic vertebral body","obsolete":false,"parents":["HP:0003468"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vertebral body sclerosis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100862","name":"Aplasia of the 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palms"}]} +{"alt_ids":[],"definition":"Telangiectases (small dilated blood vessels) located on the skin of sole of foot.","id":"HP:0100870","name":"Plantar telangiectasia","obsolete":false,"parents":["HP:0100585","HP:0100872"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Plantar teleangiectasia"},{"scope":"EXACT","text":"Telangiectases of soles"},{"scope":"EXACT","text":"Teleangiectases of soles"}]} +{"alt_ids":[],"definition":"An abnormality of the palm, that is, of the front of the hand.","id":"HP:0100871","name":"Abnormal palm morphology","obsolete":false,"parents":["HP:0001155"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the palm"}]} +{"alt_ids":["HP:0010613"],"definition":"An abnormality of the plantar part of foot, that is of the soles of the feet.","id":"HP:0100872","name":"Abnormality of the plantar skin of foot","obsolete":false,"parents":["HP:0001760","HP:0011356"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Minor feet anomalies"}]} +{"alt_ids":[],"definition":"Increased density of hairs, i.e., and elevated number of hairs per unit area.","id":"HP:0100874","name":"Thick hair","obsolete":false,"parents":["HP:0011362"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased follicular density"},{"scope":"EXACT","text":"Increased hair density"},{"scope":"EXACT","text":"Thick hair"}]} +{"alt_ids":[],"definition":"Increased length and width of one half of the tongue.","id":"HP:0100875","name":"Hemimacroglossia","obsolete":false,"parents":["HP:0000158"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Hemiglossal hyperplasia"},{"scope":"EXACT","text":"Hemiglossal hypertrophy"},{"scope":"BROAD","text":"Hyperplasia of half of the tongue"},{"scope":"EXACT","text":"Hypertrophy of half of the tongue"},{"scope":"EXACT","text":"Increased size of half of the tongue"},{"scope":"EXACT","text":"Large half of tongue"}]} +{"alt_ids":["HP:0007796"],"definition":"Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma.","id":"HP:0100876","name":"Infra-orbital crease","obsolete":false,"parents":["HP:0000606"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Crease in skin under the eye"},{"scope":"EXACT","text":"Groove in skin under the eye"},{"scope":"EXACT","text":"Infraorbital crease"},{"scope":"EXACT","text":"Infraorbital creases"},{"scope":"EXACT","text":"Underorbital skin creases"}]} +{"alt_ids":[],"definition":"Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system.","id":"HP:0100877","name":"Renal diverticulum","obsolete":false,"parents":["HP:0000107","HP:0004742"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Caliceal diverticulum"},{"scope":"EXACT","text":"Pelvic diverticulum"},{"scope":"EXACT","text":"Renal pelvic diverticulum"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100878","name":"Enlarged uterus","obsolete":false,"parents":["HP:0031105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged uterus"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100879","name":"Enlarged ovaries","obsolete":false,"parents":["HP:0031065"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged ovaries"}]} +{"alt_ids":[],"definition":"Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney.","id":"HP:0100880","name":"Nephrogenic rest","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue.","id":"HP:0100881","name":"Congenital mesoblastic nephroma","obsolete":false,"parents":["HP:0003549","HP:0011794"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A rare, benign soft tissue tumor that typically occurs within the first two years of life.","id":"HP:0100882","name":"Fibrous hamartoma","obsolete":false,"parents":["HP:0010566"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fibrous hamartoma of infancy"}]} +{"alt_ids":[],"definition":"Hamartoma-like growth in the placenta consisting of blood vessels.","id":"HP:0100883","name":"Chorangioma","obsolete":false,"parents":["HP:0010566","HP:0100767"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Placental hamartoma"}]} +{"alt_ids":[],"definition":"A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time.","id":"HP:0100884","name":"Compensatory scoliosis","obsolete":false,"parents":["HP:0002650"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life.","id":"HP:0100885","name":"Lateral venous anomaly","obsolete":false,"parents":["HP:0001015"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Klippel-Trenaunay vein"},{"scope":"EXACT","text":"Lateral marginal vein of Servelle"},{"scope":"EXACT","text":"Vein of Servelle"}]} +{"alt_ids":[],"definition":"An abnormality in the placement of the ocular globe (eyeball).","id":"HP:0100886","name":"Abnormality of globe location","obsolete":false,"parents":["HP:0012372"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of eyeball location"},{"scope":"EXACT","text":"Abnormality of eyeball position"},{"scope":"EXACT","text":"Abnormality of globe position"}]} +{"alt_ids":["HP:0010725"],"definition":"An abnormality in the size of the ocular globe (eyeball).","id":"HP:0100887","name":"Abnormality of globe size","obsolete":false,"parents":["HP:0012372"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of eyeball size"},{"scope":"EXACT","text":"Eye size difference"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100888","name":"Interdigital loops","obsolete":false,"parents":["HP:0007477"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder.","id":"HP:0100889","name":"Abnormal ductus choledochus morphology","obsolete":false,"parents":["HP:0012440"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the common bile duct"},{"scope":"EXACT","text":"Abnormality of the ductus choledochus"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100890","name":"Cyst of the ductus choledochus","obsolete":false,"parents":["HP:0100889"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Choledochal cyst"}]} +{"alt_ids":[],"definition":"A cleft of the xiphoid process of the sternum.","id":"HP:0100891","name":"Bifid xiphoid process","obsolete":false,"parents":["HP:0100892"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bifid xiphisternum"}]} +{"alt_ids":[],"definition":"An abnormality of the xiphoid process of the sternum.","id":"HP:0100892","name":"Abnormality of the xiphoid process","obsolete":false,"parents":["HP:0000766"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased prominence of the xiphoid process of the sternum.","id":"HP:0100893","name":"Prominent xiphoid process","obsolete":false,"parents":["HP:0100892"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prominent xiphisternum"}]} +{"alt_ids":[],"definition":"Increased side-to-side width of the xiphoid process of the sternum.","id":"HP:0100894","name":"Broad xiphoid process","obsolete":false,"parents":["HP:0100892"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad xiphisternum"}]} +{"alt_ids":["HP:0100897"],"definition":"The presence of multiple rectal hyperplastic/adenomatous polyps.","id":"HP:0100896","name":"Rectal polyposis","obsolete":false,"parents":["HP:0030255","HP:0100743"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multiple rectal polyps"},{"scope":"EXACT","text":"Rectal polyps"}]} +{"alt_ids":[],"definition":"Connective tissue nevi are hamartomas in which one or several components of the dermis is altered.","id":"HP:0100898","name":"Connective tissue nevi","obsolete":false,"parents":["HP:0003549","HP:0003764"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:0100899","name":"Sclerosis of finger phalanx","obsolete":false,"parents":["HP:0004054","HP:0005918"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the finger bone"},{"scope":"EXACT","text":"Sclerosis of the phalanges of the hand"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100900","name":"Sclerosis of the distal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0100915","HP:0100918"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the outermost bone of the index finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100901","name":"Sclerosis of the distal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0100915","HP:0100919"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the outermost bone of the middle finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100902","name":"Sclerosis of the distal phalanx of the 4th finger","obsolete":false,"parents":["HP:0100915","HP:0100920"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the outermost bone of the ring finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100903","name":"Sclerosis of the distal phalanx of the 5th finger","obsolete":false,"parents":["HP:0100915","HP:0100921"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the outermost little finger bone"},{"scope":"EXACT","text":"Increased bone density in the outermost pinkie finger bone"},{"scope":"EXACT","text":"Increased bone density in the outermost pinky finger bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100904","name":"Sclerosis of the middle phalanx of the 2nd finger","obsolete":false,"parents":["HP:0100916","HP:0100918"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the middle bone of the index finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100905","name":"Sclerosis of the middle phalanx of the 3rd finger","obsolete":false,"parents":["HP:0100916","HP:0100919"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the middle bone of the middle finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100906","name":"Sclerosis of the middle phalanx of the 4th finger","obsolete":false,"parents":["HP:0100916","HP:0100920"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the middle bone of the ring finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100907","name":"Sclerosis of the middle phalanx of the 5th finger","obsolete":false,"parents":["HP:0100916","HP:0100921"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the middle bone of the little finger"},{"scope":"EXACT","text":"Increased bone density in the middle bone of the pinkie finger"},{"scope":"EXACT","text":"Increased bone density in the middle bone of the pinky finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100908","name":"Sclerosis of the proximal phalanx of the 2nd finger","obsolete":false,"parents":["HP:0100917","HP:0100918"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the innermost bone of the index finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100909","name":"Sclerosis of the proximal phalanx of the 3rd finger","obsolete":false,"parents":["HP:0100917","HP:0100919"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in innermost bone of the middle finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100910","name":"Sclerosis of the proximal phalanx of the 4th finger","obsolete":false,"parents":["HP:0100917","HP:0100920"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the innermost bone of the ring finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100911","name":"Sclerosis of the proximal phalanx of the 5th finger","obsolete":false,"parents":["HP:0100917","HP:0100921"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in innermost little finger bone"},{"scope":"EXACT","text":"Increased bone density in innermost pinkie finger bone"},{"scope":"EXACT","text":"Increased bone density in innermost pinky finger bone"}]} +{"alt_ids":[],"definition":"An elevation of bone density in the distal phalanx of the thumb.","id":"HP:0100912","name":"Sclerosis of the distal phalanx of the thumb","obsolete":false,"parents":["HP:0100915","HP:0100922"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the outermost bone of the thumb"}]} +{"alt_ids":[],"definition":"An elevation of bone density in the proximal phalanx of the thumb.","id":"HP:0100913","name":"Sclerosis of the proximal phalanx of the thumb","obsolete":false,"parents":["HP:0100916","HP:0100922"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the innermost bone of the thumb"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100914","name":"Sclerosis of the 1st metacarpal","obsolete":false,"parents":["HP:0100917"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in 1st long bone of hand"}]} +{"alt_ids":[],"definition":"An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:0100915","name":"Sclerosis of distal phalanx of finger","obsolete":false,"parents":["HP:0009832","HP:0100899"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in outermost finger bone"},{"scope":"EXACT","text":"Sclerosis of the distal phalanges of the hand"}]} +{"alt_ids":[],"definition":"An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:0100916","name":"Sclerosis of middle phalanx of finger","obsolete":false,"parents":["HP:0009833","HP:0100899"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in middle finger bone of hand"},{"scope":"EXACT","text":"Sclerosis of the middle phalanges of the hand"}]} +{"alt_ids":[],"definition":"An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:0100917","name":"Sclerosis of proximal phalanx of finger","obsolete":false,"parents":["HP:0009834","HP:0100899"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in innermost finger bone"},{"scope":"EXACT","text":"Sclerosis of the proximal phalanges of the hand"}]} +{"alt_ids":[],"definition":"An elevation in bone density in one or more phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:0100918","name":"Sclerosis of 2nd finger phalanx","obsolete":false,"parents":["HP:0009541","HP:0100899"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in 2nd finger bone"},{"scope":"EXACT","text":"Sclerosis of the phalanges of the 2nd finger"}]} +{"alt_ids":[],"definition":"An elevation in bone density in one or more phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:0100919","name":"Sclerosis of 3rd finger phalanx","obsolete":false,"parents":["HP:0009316","HP:0100899"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in middle finger bone"},{"scope":"EXACT","text":"Sclerosis of the phalanges of the 3rd finger"}]} +{"alt_ids":[],"definition":"An elevation in bone density in one or more phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:0100920","name":"Sclerosis of 4th finger phalanx","obsolete":false,"parents":["HP:0009172","HP:0100899"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in ring finger bone"},{"scope":"EXACT","text":"Sclerosis of the phalanges of the 4th finger"}]} +{"alt_ids":[],"definition":"An elevation in bone density in one or more phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:0100921","name":"Sclerosis of 5th finger phalanx","obsolete":false,"parents":["HP:0004213","HP:0100899"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in little finger bone"},{"scope":"EXACT","text":"Increased bone density in pinkie finger bone"},{"scope":"EXACT","text":"Increased bone density in pinky finger bone"},{"scope":"EXACT","text":"Sclerosis of the phalanges of the 5th finger"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100922","name":"Sclerosis of thumb phalanx","obsolete":false,"parents":["HP:0009602","HP:0100899"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in thumb bone"},{"scope":"EXACT","text":"Sclerosis of the phalanges of the thumb"}]} +{"alt_ids":["HP:0006648"],"definition":"An increase in bone density within the clavicle.","id":"HP:0100923","name":"Clavicular sclerosis","obsolete":false,"parents":["HP:0000889","HP:0011001"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in collarbone"},{"scope":"EXACT","text":"Osteosclerosis of the clavicle"},{"scope":"RELATED","text":"Osteosclerosis of the clavicles"}]} +{"alt_ids":[],"definition":"An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:0100924","name":"Sclerosis of toe phalanx","obsolete":false,"parents":["HP:0010161","HP:0100925"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the toe bone"},{"scope":"EXACT","text":"Sclerosis of the phalanges of the toes"}]} +{"alt_ids":[],"definition":"An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:0100925","name":"Sclerosis of foot bone","obsolete":false,"parents":["HP:0011001"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in foot bone"},{"scope":"EXACT","text":"Sclerosis of bones of the feet"}]} +{"alt_ids":[],"definition":"An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:0100926","name":"Sclerosis of 2nd toe phalanx","obsolete":false,"parents":["HP:0100924"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in 2nd toe bone"},{"scope":"EXACT","text":"Sclerosis of the phalanges of the 2nd toe"}]} +{"alt_ids":[],"definition":"An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:0100927","name":"Sclerosis of 3rd toe phalanx","obsolete":false,"parents":["HP:0100924"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in 3rd toe bone"},{"scope":"EXACT","text":"Sclerosis of the phalanges of the 3rd toe"}]} +{"alt_ids":[],"definition":"An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:0100928","name":"Sclerosis of 4th toe phalanx","obsolete":false,"parents":["HP:0100924"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in 4th toe bone"},{"scope":"EXACT","text":"Sclerosis of the phalanges of the 4th toe"}]} +{"alt_ids":[],"definition":"An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:0100929","name":"Sclerosis of 5th toe phalanx","obsolete":false,"parents":["HP:0100924"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in little toe bone"},{"scope":"EXACT","text":"Increased bone density in pinkie toe bone"},{"scope":"EXACT","text":"Increased bone density in pinky toe bone"},{"scope":"EXACT","text":"Sclerosis of the phalanges of the 5th toe"}]} +{"alt_ids":[],"definition":"An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:0100930","name":"Sclerosis of hallux phalanx","obsolete":false,"parents":["HP:0100924"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in big toe bone"},{"scope":"EXACT","text":"Sclerosis of the phalanges of the hallux"}]} +{"alt_ids":[],"definition":"An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:0100931","name":"Sclerosis of the proximal phalanx of the 2nd toe","obsolete":false,"parents":["HP:0100926","HP:0100946"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the innermost bone of the 2nd toe"}]} +{"alt_ids":[],"definition":"An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:0100932","name":"Sclerosis of the proximal phalanx of the 3rd toe","obsolete":false,"parents":["HP:0100927","HP:0100946"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the innermost bone of the 3rd toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100933","name":"Sclerosis of the proximal phalanx of the 4th toe","obsolete":false,"parents":["HP:0100928","HP:0100946"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the innermost bone of the 4th toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100934","name":"Sclerosis of the proximal phalanx of the 5th toe","obsolete":false,"parents":["HP:0100929","HP:0100946"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the innermost bone of the little toe"},{"scope":"EXACT","text":"Increased bone density in the innermost bone of the pinkie toe"},{"scope":"EXACT","text":"Increased bone density in the innermost bone of the pinky toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100935","name":"Sclerosis of the middle phalanx of the 2nd toe","obsolete":false,"parents":["HP:0100926","HP:0100947"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the middle bone of the 2nd toe"}]} +{"alt_ids":[],"definition":"An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:0100936","name":"Sclerosis of the middle phalanx of the 3rd toe","obsolete":false,"parents":["HP:0100927","HP:0100947"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the middle bone of the 3rd toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100937","name":"Sclerosis of the middle phalanx of the 4th toe","obsolete":false,"parents":["HP:0100928","HP:0100947"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the middle bone of the 4th toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100938","name":"Sclerosis of the middle phalanx of the 5th toe","obsolete":false,"parents":["HP:0100929","HP:0100947"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the middle bone of the little toe"},{"scope":"EXACT","text":"Increased bone density in the middle bone of the pinkie toe"},{"scope":"EXACT","text":"Increased bone density in the middle bone of the pinky toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100939","name":"Sclerosis of the distal phalanx of the 2nd toe","obsolete":false,"parents":["HP:0010356","HP:0100926","HP:0100948"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the outermost bone of the 2nd toe"}]} +{"alt_ids":[],"definition":"An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:0100940","name":"Sclerosis of the distal phalanx of the 3rd toe","obsolete":false,"parents":["HP:0100927","HP:0100948"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the outermost bone of the 3rd toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100941","name":"Sclerosis of the distal phalanx of the 4th toe","obsolete":false,"parents":["HP:0100928","HP:0100948"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the outermost bone of the 4th toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100942","name":"Sclerosis of the distal phalanx of the 5th toe","obsolete":false,"parents":["HP:0100929","HP:0100948"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the outermost bone of the little toe"},{"scope":"EXACT","text":"Increased bone density in the outermost bone of the pinkie toe"},{"scope":"EXACT","text":"Increased bone density in the outermost bone of the pinky toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100943","name":"Sclerosis of the proximal phalanx of the hallux","obsolete":false,"parents":["HP:0100930","HP:0100947"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the innermost bone of the big toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100944","name":"Sclerosis of the distal phalanx of the hallux","obsolete":false,"parents":["HP:0010053","HP:0100930","HP:0100948"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the outermost bone of the big toe"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100945","name":"Sclerosis of the 1st metatarsal","obsolete":false,"parents":["HP:0100930"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the 1st long bone of foot"}]} +{"alt_ids":[],"definition":"An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:0100946","name":"Sclerosis of proximal phalanx of toe","obsolete":false,"parents":["HP:0010184","HP:0100924"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in innermost toe bone"},{"scope":"EXACT","text":"Sclerosis of the proximal phalanges of the toes"}]} +{"alt_ids":[],"definition":"An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:0100947","name":"Sclerosis of middle phalanx of toe","obsolete":false,"parents":["HP:0010183","HP:0100924"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in middle toe bone"},{"scope":"EXACT","text":"Sclerosis of the middle phalanges of the toes"}]} +{"alt_ids":[],"definition":"An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:0100948","name":"Sclerosis of distal phalanx of toe","obsolete":false,"parents":["HP:0010182","HP:0100924"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density in the outermost bone of the toes"},{"scope":"EXACT","text":"Sclerosis of the distal phalanges of the toes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100950","name":"Decreased 3-hydroxyacyl-CoA dehydrogenase level","obsolete":false,"parents":["HP:0003287","HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Long chain 3 hydroxyacyl coA dehydrogenase deficiency"},{"scope":"RELATED","text":"Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency"},{"scope":"RELATED","text":"Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency"}]} +{"alt_ids":["HP:0002420"],"definition":null,"id":"HP:0100951","name":"Enlarged fossa interpeduncularis","obsolete":false,"parents":["HP:0002119"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged basal cistern"},{"scope":"EXACT","text":"Enlarged interpeduncular cistern"}]} +{"alt_ids":[],"definition":"An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure).","id":"HP:0100952","name":"Enlarged sylvian cistern","obsolete":false,"parents":["HP:0002119"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged lateral fissure"},{"scope":"EXACT","text":"Enlarged lateral sulcus"},{"scope":"EXACT","text":"Enlarged sylvian fissure"}]} +{"alt_ids":[],"definition":null,"id":"HP:0100953","name":"Enlarged interhemispheric fissure","obsolete":false,"parents":["HP:0012703"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enlarged great longitudinal fissure"},{"scope":"EXACT","text":"Enlarged longitudinal cerebral fissure"},{"scope":"EXACT","text":"Enlarged longitudinal fissure"}]} +{"alt_ids":[],"definition":"Underdevelopment of the operculum.","id":"HP:0100954","name":"Open operculum","obsolete":false,"parents":["HP:0002538","HP:0006872"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0100955","name":"Giant cell granuloma of mandible","obsolete":false,"parents":["HP:0000277"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0005582"],"definition":"Any structural abnormality of the medulla of the kidney.","id":"HP:0100957","name":"Abnormal renal medulla morphology","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the renal medulla"}]} +{"alt_ids":[],"definition":"Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis.","id":"HP:0100958","name":"Narrow foramen obturatorium","obsolete":false,"parents":["HP:0003172","HP:0003174"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex.","id":"HP:0100959","name":"Dense metaphyseal bands","obsolete":false,"parents":["HP:0000944"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dense metaphyseal band sign"},{"scope":"EXACT","text":"Dense metaphyseal lines"},{"scope":"EXACT","text":"Lead lines in metaphyses of bones"},{"scope":"EXACT","text":"Transverse metaphyseal bands"}]} +{"alt_ids":[],"definition":"Abnormal difference in size between the left and right lateral cerebral ventricles.","id":"HP:0100960","name":"Lateral ventricular asymmetry","obsolete":false,"parents":["HP:0002118"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Asymmetric lateral ventricles"},{"scope":"EXACT","text":"Asymmetric ventricles"},{"scope":"EXACT","text":"Cerebral lateral ventricular asymmetry"}]} +{"alt_ids":[],"definition":"Increase in size of the hippocampus.","id":"HP:0100961","name":"Enlarged 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fissure"},{"scope":"EXACT","text":"Abnormal shape of the opening between the eyelids"}]} +{"alt_ids":[],"definition":null,"id":"HP:0200006","name":"Slanting of the palpebral fissure","obsolete":false,"parents":["HP:0008050"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Slanting of the opening between the eyelids"}]} +{"alt_ids":[],"definition":"An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures.","id":"HP:0200007","name":"Abnormal size of the palpebral fissures","obsolete":false,"parents":["HP:0008050"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Abnormal size of the eyes"},{"scope":"EXACT","text":"Abnormal size of the opening between the eyelids"}]} +{"alt_ids":[],"definition":"The presence of multiple polyps in the intestine.","id":"HP:0200008","name":"Intestinal polyposis","obsolete":false,"parents":["HP:0005266"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Gastrointestinal polyps"},{"scope":"BROAD","text":"Growths in inner lining of intestine"},{"scope":"EXACT","text":"Multiple intestinal polyps"}]} +{"alt_ids":[],"definition":null,"id":"HP:0200011","name":"Abnormal length of corpus callosum","obsolete":false,"parents":["HP:0001273"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0200012","name":"Short corpus callosum","obsolete":false,"parents":["HP:0200011"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tumor (abnormal growth of tissue) of adipose tissue.","id":"HP:0200013","name":"Neoplasm of fatty tissue","obsolete":false,"parents":["HP:0009124","HP:0011793"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tumor of fatty tissue"},{"scope":"EXACT","text":"Tumour of fatty tissue"}]} +{"alt_ids":[],"definition":null,"id":"HP:0200015","name":"Symmetric great toe depigmentation","obsolete":false,"parents":["HP:0001000"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Overgrowth of the stratum 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This leads to difficulties especially in distinguishing red and green.","id":"HP:0200018","name":"Protanomaly","obsolete":false,"parents":["HP:0000642","HP:0011519"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Colorblindness, partial, protan series"},{"scope":"EXACT","text":"Red-weak"}]} +{"alt_ids":[],"definition":"An erosion or abrasion of the cornea's outermost layer of epithelial cells.","id":"HP:0200020","name":"Corneal erosion","obsolete":false,"parents":["HP:0011495"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Damage to outer layer of the cornea of the eye"}]} +{"alt_ids":["HP:0001556","HP:0006663"],"definition":"Low set, steeply sloping shoulders.","id":"HP:0200021","name":"Down-sloping shoulder","obsolete":false,"parents":["HP:0003043"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Depressed shoulder"},{"scope":"EXACT","text":"Down-sloping shoulders"},{"scope":"EXACT","text":"Rounded shoulders"},{"scope":"EXACT","text":"Rounded, sloping shoulders"},{"scope":"EXACT","text":"Shoulder depression"},{"scope":"EXACT","text":"Sloping shoulders"}]} +{"alt_ids":[],"definition":"Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus.","id":"HP:0200022","name":"Choroid plexus papilloma","obsolete":false,"parents":["HP:0007376","HP:0012740","HP:0100835"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours.","id":"HP:0200023","name":"Priapism","obsolete":false,"parents":["HP:0100639"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"hulseyism"}]} +{"alt_ids":[],"definition":"The presence of premature sister chromatid segregation.","id":"HP:0200024","name":"Premature chromatid separation","obsolete":false,"parents":["HP:0002916"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible.","id":"HP:0200025","name":"Mandibular pain","obsolete":false,"parents":["HP:0000277","HP:0012531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lower jaw pain"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.","id":"HP:0200026","name":"Ocular pain","obsolete":false,"parents":["HP:0012373","HP:0046506"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eye pain"}]} +{"alt_ids":[],"definition":"A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet.","id":"HP:0200028","name":"Pretibial myxedema","obsolete":false,"parents":["HP:0011356"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Graves dermopathy"}]} +{"alt_ids":[],"definition":"A type of vasculitis (inflammation of blood vessel walls) that affects skeletal muscle tissue.","id":"HP:0200029","name":"Vasculitis in the skin","obsolete":false,"parents":["HP:0011276","HP:0034784"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cutaneous vasculitis"}]} +{"alt_ids":[],"definition":null,"id":"HP:0200030","name":"Punctate vasculitis skin lesions","obsolete":false,"parents":["HP:0200029"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea.","id":"HP:0200032","name":"Kayser-Fleischer ring","obsolete":false,"parents":["HP:0007957"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fleischer's ring"},{"scope":"EXACT","text":"Fleischer-Kayser ring"},{"scope":"EXACT","text":"Fleischer-Struempell ring"}]} +{"alt_ids":[],"definition":"A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.","id":"HP:0200034","name":"Papule","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Papules"},{"scope":"RELATED","text":"Skin papules"}]} +{"alt_ids":[],"definition":"A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.","id":"HP:0200035","name":"Skin plaque","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.","id":"HP:0200036","name":"Skin nodule","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Growth of abnormal tissue on or under the skin"}]} +{"alt_ids":[],"definition":"A circumscribed, fluid-containing, epidermal elevation less than 10mm in diameter at the widest point that (i) Contain serous exudates or serum mixed with blood or pus; (ii) Are discrete, grouped, irregularly distributed, or linear as in Rhus dermatitis; (iii) Are short-lived. Vesicles may break spontaneously or evolve into bullae by enlarging or coalescing with other vesicles.","id":"HP:0200037","name":"Skin vesicle","obsolete":false,"parents":["HP:0008066","HP:0011355"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.","id":"HP:0200039","name":"Pustule","obsolete":false,"parents":["HP:0011123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pimple"},{"scope":"EXACT","text":"Pustula"},{"scope":"EXACT","text":"Pustular lesion"},{"scope":"EXACT","text":"Pustules"},{"scope":"EXACT","text":"Skin pustule"},{"scope":"EXACT","text":"Skin pustules"}]} +{"alt_ids":[],"definition":"Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts. A central, dark comedone opening (punctum) may be present.","id":"HP:0200040","name":"Epidermoid cyst","obsolete":false,"parents":["HP:0025245"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Central punctum opening in cyst"},{"scope":"EXACT","text":"Epidermal cyst"},{"scope":"EXACT","text":"Epidermal inclusion cyst"},{"scope":"RELATED","text":"Epidermoid cysts"},{"scope":"EXACT","text":"Infundibular cyst"},{"scope":"EXACT","text":"Keratin cyst"},{"scope":"RELATED","text":"Sebaceous cyst"}]} +{"alt_ids":[],"definition":"A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.","id":"HP:0200041","name":"Skin erosion","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.","id":"HP:0200042","name":"Skin ulcer","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Open skin sore"}]} +{"alt_ids":[],"definition":"Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas.","id":"HP:0200043","name":"Verrucae","obsolete":false,"parents":["HP:0012740"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Warts"}]} +{"alt_ids":[],"definition":"A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella.","id":"HP:0200044","name":"Porokeratosis","obsolete":false,"parents":["HP:0011368"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten.","id":"HP:0200046","name":"Cat cry","obsolete":false,"parents":["HP:0025429"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cat cry"},{"scope":"EXACT","text":"cat-like cry"},{"scope":"RELATED","text":"cri de chat-associated cry"}]} +{"alt_ids":[],"definition":"Inflammation of the cartilage of the external ear.","id":"HP:0200047","name":"Chondritis of pinna","obsolete":false,"parents":["HP:0000377","HP:0100662"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inflammation of cartilage of pinna"}]} +{"alt_ids":[],"definition":null,"id":"HP:0200048","name":"Cyanotic episode","obsolete":false,"parents":["HP:0000961"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased muscle tone observed in the arms of the affected person.","id":"HP:0200049","name":"Upper limb hypertonia","obsolete":false,"parents":["HP:0001446","HP:0002509"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0200050","name":"Bracket metacarpal epiphyses","obsolete":false,"parents":["HP:0005913"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bracket shaped end part of long bone of hand"}]} +{"alt_ids":["HP:0005618"],"definition":"Shortening of a leg affecting only one side.","id":"HP:0200053","name":"Hemihypotrophy of lower 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aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye.","id":"HP:0200057","name":"Marcus Gunn pupil","obsolete":false,"parents":["HP:0000587"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Relative afferent pupil defect"},{"scope":"EXACT","text":"Relative afferent pupillary defect"}]} +{"alt_ids":[],"definition":null,"id":"HP:0200058","name":"Angiosarcoma","obsolete":false,"parents":["HP:0030448"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0200059","name":"Metastatic angiosarcoma","obsolete":false,"parents":["HP:0200058"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen.","id":"HP:0200063","name":"Colorectal polyposis","obsolete":false,"parents":["HP:0030255","HP:0100743"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Colorectal polyps"}]} +{"alt_ids":[],"definition":"Asymmetry between the two irides or asymmetry between different parts of one iris.","id":"HP:0200064","name":"Asymmetry of iris pigmentation","obsolete":false,"parents":["HP:0008034"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0200065","name":"obsolete Chorioretinal degeneration","obsolete":true,"parents":[],"replaced_by":["HP:0000533"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0200066","name":"Ribbonlike corneal degeneration","obsolete":false,"parents":["HP:0007705"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference.","id":"HP:0200067","name":"Recurrent spontaneous abortion","obsolete":false,"parents":["HP:0002686"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Spontaneous abortion, recurrent"}]} +{"alt_ids":[],"definition":null,"id":"HP:0200068","name":"Nonprogressive visual loss","obsolete":false,"parents":["HP:0000572"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Decreased visual acuity, nonprogressive"}]} +{"alt_ids":[],"definition":"A nonspecific term denoting wasting, especially as a result of degeneration, of the peripheral retinal pigment epithelium (RPE) and neurosensory retinal cells.","id":"HP:0200070","name":"Peripheral retinal atrophy","obsolete":false,"parents":["HP:0001105"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina.","id":"HP:0200071","name":"Peripheral vitreoretinal degeneration","obsolete":false,"parents":["HP:0007773"],"replaced_by":[],"synonyms":[]} 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maxilla","obsolete":false,"parents":["HP:0010289"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Nonmidline alveolar cleft of the maxilla.","id":"HP:0410034","name":"Bilateral alveolar cleft of maxilla","obsolete":false,"parents":["HP:0010289"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.","id":"HP:0410035","name":"Abnormal T cell activation","obsolete":false,"parents":["HP:0011840"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal T lymphocyte activation"},{"scope":"EXACT","text":"Abnormal T-cell activation"},{"scope":"EXACT","text":"Abnormal T-lymphocyte activation"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage.","id":"HP:0410042","name":"Abnormal liver morphology","obsolete":false,"parents":["HP:0001392"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord).","id":"HP:0410043","name":"Abnormal neural tube morphology","obsolete":false,"parents":["HP:0002011"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0410049","name":"obsolete Abnormal radial ray morphology","obsolete":true,"parents":[],"replaced_by":["HP:0006433"],"synonyms":[]} +{"alt_ids":[],"definition":"Concetration of 1,5 anhydroglucitol in the blood circulation is below the lower limit of normal.","id":"HP:0410050","name":"Decreased circulating 1,5 anhydroglucitol concentration","obsolete":false,"parents":["HP:0020347"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased level of 1,5 anhydroglucitol in serum"},{"scope":"EXACT","text":"Decreased level of 1,5-AG in serum"},{"scope":"EXACT","text":"Decreased level of 1,5-anhydro-D-glucitol in serum"},{"scope":"EXACT","text":"Decreased level of 1,5-anhydroglucitol in serum"}]} +{"alt_ids":[],"definition":"The concentration of 3-hydroxy-3-methylglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0410051","name":"Increased level of 3-hydroxy-3-methylglutaric acid in urine","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in the level of allantoin in the serum.","id":"HP:0410052","name":"Increased level of allantoin in serum","obsolete":false,"parents":["HP:0004364"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0032529"],"definition":"The concentration of gamma-aminobutyric acid in the blood circulation is above the upper limit of normal.","id":"HP:0410053","name":"Elevated circulating GABA concentration","obsolete":false,"parents":["HP:0034025"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated gamma-aminobutyric acid concentration"},{"scope":"EXACT","text":"Elevated gamma-aminobutyric acid level"},{"scope":"EXACT","text":"Elevated gamma-aminobutyric acid level in blood"},{"scope":"EXACT","text":"Increased circulating GABA concentration"},{"scope":"EXACT","text":"Increased gamma-aminobutyric acid concentration"},{"scope":"EXACT","text":"Increased gamma-aminobutyric acid level"},{"scope":"EXACT","text":"Increased gamma-aminobutyric acid level in blood"},{"scope":"EXACT","text":"Increased level of GABA in serum"},{"scope":"EXACT","text":"Increased level of gamma-aminobutyric acid in serum"}]} +{"alt_ids":[],"definition":"The concentration of gamma-aminobutyric acid in the blood circulation is below the lower limit of normal.","id":"HP:0410054","name":"Decreased circulating GABA concentration","obsolete":false,"parents":["HP:0034025"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating gamma-aminobutyric acid concentration"},{"scope":"EXACT","text":"Decreased gamma-aminobutyric acid concentration"},{"scope":"EXACT","text":"Decreased gamma-aminobutyric acid level"},{"scope":"EXACT","text":"Decreased gamma-aminobutyric acid level in blood"},{"scope":"EXACT","text":"Decreased level of gamma-aminobutyric acid in serum"},{"scope":"EXACT","text":"Reduced gamma-aminobutyric acid concentration"},{"scope":"EXACT","text":"Reduced gamma-aminobutyric acid level"},{"scope":"EXACT","text":"Reduced gamma-aminobutyric acid level in blood"}]} +{"alt_ids":[],"definition":"A decrease in the level of erythritol in the urine.","id":"HP:0410055","name":"Decreased level of erythritol in urine","obsolete":false,"parents":["HP:0031979"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of erythritol in the cerebrospinal fluid below the lower limit of normal.","id":"HP:0410056","name":"Decreased CSF erythritol concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased level of erythritol in cerebrospinal fluid"}]} +{"alt_ids":[],"definition":"The concentration of D-threitol in the blood circulation is above the upper limit of normal.","id":"HP:0410057","name":"Elevated circulating D-threitol concentration","obsolete":false,"parents":["HP:0020349"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated D-threitol concentration"},{"scope":"EXACT","text":"Elevated D-threitol level"},{"scope":"EXACT","text":"Elevated D-threitol level in blood"},{"scope":"EXACT","text":"Increased D-threitol concentration"},{"scope":"EXACT","text":"Increased D-threitol level"},{"scope":"EXACT","text":"Increased D-threitol level in blood"}]} +{"alt_ids":[],"definition":"The concentration of D-threitol in the cerebrospinal fluid is above the upper limit of normal.","id":"HP:0410058","name":"Increased CSF D-threitol concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased level of D-threitol in CSF"},{"scope":"EXACT","text":"Increased level of D-threitol in cerebrospinal fluid"}]} +{"alt_ids":[],"definition":"An increase in the level of D-threitol in the urine.","id":"HP:0410059","name":"Increased level of D-threitol in urine","obsolete":false,"parents":["HP:0031979"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A decrease in the level of D-mannose in the urine.","id":"HP:0410060","name":"Decreased level of D-mannose in urine","obsolete":false,"parents":["HP:0031979"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of galactitol in the blood circulation is above the upper limit of normal.","id":"HP:0410061","name":"Elevated circulating galactitol concentration","obsolete":false,"parents":["HP:0020349"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated galactitol concentration"},{"scope":"EXACT","text":"Elevated galactitol level"},{"scope":"EXACT","text":"Elevated galactitol level in blood"},{"scope":"EXACT","text":"Increased galactitol concentration"},{"scope":"EXACT","text":"Increased galactitol level"},{"scope":"EXACT","text":"Increased galactitol level in blood"},{"scope":"EXACT","text":"Increased level of galactitol in plasma"}]} +{"alt_ids":[],"definition":"An increase in the level of galactitol in the urine.","id":"HP:0410062","name":"Increased level of galactitol in urine","obsolete":false,"parents":["HP:0031979"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in the level of galactonate in the red blood cells.","id":"HP:0410063","name":"Increased level of galactonate in red blood cells","obsolete":false,"parents":["HP:0004354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased level of galactonate in RBCs"},{"scope":"EXACT","text":"Increased level of galactonate in erythrocytes"}]} +{"alt_ids":[],"definition":"An increase in the level of galactitol in the red blood cells.","id":"HP:0410064","name":"Increased level of galactitol in red blood cells","obsolete":false,"parents":["HP:0011013"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased level of galactitol in erythrocytes"}]} +{"alt_ids":[],"definition":"The concentration of hippuric acid in the blood circulation is above the upper limit of normal.","id":"HP:0410065","name":"Elevated circulating hippuric acid concentration","obsolete":false,"parents":["HP:0004354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated hippuric acid concentration"},{"scope":"EXACT","text":"Elevated hippuric acid level"},{"scope":"EXACT","text":"Elevated hippuric acid level in blood"},{"scope":"EXACT","text":"Increased hippuric acid concentration"},{"scope":"EXACT","text":"Increased hippuric acid level"},{"scope":"EXACT","text":"Increased hippuric acid level in blood"},{"scope":"EXACT","text":"Increased level of N-benzoylglycine in blood"}]} +{"alt_ids":[],"definition":"An increase in the level of hippuric acid in the urine.","id":"HP:0410066","name":"Increased level of hippuric acid in urine","obsolete":false,"parents":["HP:0031980"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased level of N-benzoylglycine in urine"}]} +{"alt_ids":[],"definition":"An increase in the level of L-fucose in the urine.","id":"HP:0410067","name":"Increased level of L-fucose in urine","obsolete":false,"parents":["HP:0031979"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0410068","name":"obsolete Increased level of L-glutamic acid in blood","obsolete":true,"parents":[],"replaced_by":["HP:0500149"],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in the level of propylene glycol in the blood.","id":"HP:0410069","name":"Increased level of propylene glycol in blood","obsolete":false,"parents":["HP:0032180"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased level of propane-1,2-diol in blood"}]} +{"alt_ids":[],"definition":"An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose.","id":"HP:0410070","name":"Increased level of ribitol in urine","obsolete":false,"parents":["HP:0031979"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of ribitol in the cerebrospinal fluid is above the upper limit of normal.","id":"HP:0410071","name":"Increased CSF ribitol concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased level of ribitol in cerebrospinal fluid"}]} +{"alt_ids":[],"definition":"An increase in the level of ribose in the urine.","id":"HP:0410072","name":"Increased level of ribose in urine","obsolete":false,"parents":["HP:0031979"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of ribose in the cerebrospinal fluid is above the upper limit of normal.","id":"HP:0410073","name":"Increased CSF ribose concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased level of ribose in CSF"},{"scope":"EXACT","text":"Increased level of ribose in cerebrospinal fluid"}]} +{"alt_ids":[],"definition":"An increase in the level of xylitol in the urine.","id":"HP:0410074","name":"Increased level of xylitol in urine","obsolete":false,"parents":["HP:0031979"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of xylitol in the cerebrospinal fluid is above the upper limit of normal.","id":"HP:0410075","name":"Increased CSF xylitol concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased level of xylitol in CSF"},{"scope":"EXACT","text":"Increased level of xylitol in cerebrospinal fluid"}]} +{"alt_ids":[],"definition":"An increase in the level of L-pyroglutamic acid in the urine.","id":"HP:0410132","name":"Increased level of L-pyroglutamic acid in urine","obsolete":false,"parents":["HP:0033097"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urine 5-oxoproline"},{"scope":"EXACT","text":"Increased level of 5-oxo-L-proline in urine"}]} +{"alt_ids":[],"definition":"Urticaria characterized by spontaneously recurring hives for 6 weeks or longer.","id":"HP:0410133","name":"Chronic urticaria","obsolete":false,"parents":["HP:0001025"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CIU"},{"scope":"EXACT","text":"CSU"},{"scope":"EXACT","text":"Chronic idiopathic urticaria"},{"scope":"EXACT","text":"Chronic spontaneous urticaria"}]} +{"alt_ids":[],"definition":"Urticaria caused by physical agents, such as heat, cold, light, friction.","id":"HP:0410134","name":"Physical urticaria","obsolete":false,"parents":["HP:0001025"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Urticaria may be caused by cold temperatures.","id":"HP:0410135","name":"Cold urticaria","obsolete":false,"parents":["HP:0410134"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin.","id":"HP:0410136","name":"Aquagenic urticaria","obsolete":false,"parents":["HP:0410134"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light.","id":"HP:0410137","name":"Solar urticaria","obsolete":false,"parents":["HP:0000992","HP:0410134"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum.","id":"HP:0410138","name":"Vibratory urticaria","obsolete":false,"parents":["HP:0410134"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anaphylaxis after physical activity.","id":"HP:0410139","name":"Exercise induced anaphylaxis","obsolete":false,"parents":["HP:0100845"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.","id":"HP:0410144","name":"Abnormal circulating biotinidase concentration","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal biotinidase level"}]} +{"alt_ids":[],"definition":"Concentration of biotinidase in the blood circulation below the lower limit of normal. Biotidinase is an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.","id":"HP:0410145","name":"Decreased circulating biotinidase concentration","obsolete":false,"parents":["HP:0410144"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased biotinidase level"}]} +{"alt_ids":[],"definition":"Concentration of biotinidase in the blood circulation above the upper limit of normal. Biotidinase is an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.","id":"HP:0410146","name":"Elevated circulating biotinidase concentration","obsolete":false,"parents":["HP:0410144"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased biotinidase level"}]} +{"alt_ids":[],"definition":"Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia.","id":"HP:0410147","name":"Eosinophilic infiltration in the stomach mucosa","obsolete":false,"parents":["HP:0005263","HP:0032064"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eosinophilic gastritis"}]} +{"alt_ids":[],"definition":"A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment.","id":"HP:0410148","name":"Idiopathic anaphylaxis","obsolete":false,"parents":["HP:0100845"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of anaphylaxis that is triggered by intake of drugs or medications.","id":"HP:0410149","name":"Drug-induced anaphylaxis","obsolete":false,"parents":["HP:0100845"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Drug induced anaphylaxis"}]} +{"alt_ids":[],"definition":"Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus.","id":"HP:0410151","name":"Eosinophilic infiltration of the esophagus","obsolete":false,"parents":["HP:0032064","HP:0100633"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eosinophilic esophagitis"}]} +{"alt_ids":[],"definition":"The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques.","id":"HP:0410152","name":"Eosinophilic microabscess formation in the esophagus","obsolete":false,"parents":["HP:0100633"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eosinophilic micro-abscess formation in the esophagus"},{"scope":"EXACT","text":"Eosinophilic micro-abscess formation in the oesophagus"}]} +{"alt_ids":[],"definition":"The concentration of methylsuccinic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0410153","name":"Increased level of methylsuccinic acid in urine","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased level of pyrotartaric acid in urine"}]} +{"alt_ids":[],"definition":"The concentration of myristic acid in the blood circulation is above the upper limit of normal.","id":"HP:0410154","name":"Elevated circulating myristic acid concentration","obsolete":false,"parents":["HP:0003455"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated myristic acid concentration"},{"scope":"EXACT","text":"Elevated myristic acid level"},{"scope":"EXACT","text":"Elevated myristic acid level in blood"},{"scope":"EXACT","text":"Increased level of tetradecanoic acid in serum"},{"scope":"EXACT","text":"Increased myristic acid concentration"},{"scope":"EXACT","text":"Increased myristic acid level"},{"scope":"EXACT","text":"Increased myristic acid level in blood"}]} +{"alt_ids":[],"definition":"An increase in the level of N-acetylneuraminic acid in the urine.","id":"HP:0410156","name":"Increased level of N-acetylneuraminic acid in urine","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased level of NANA in urine"},{"scope":"EXACT","text":"Increased level of Neu5Ac in urine"},{"scope":"BROAD","text":"Increased urinary sialic acid"}]} +{"alt_ids":[],"definition":"An increase in the level of N-acetylneuraminic acid in cultured fibroblasts.","id":"HP:0410157","name":"Increased level of N-acetylneuraminic acid in fibroblasts","obsolete":false,"parents":["HP:0032243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased level of NANA in fibroblasts"},{"scope":"EXACT","text":"Increased level of Neu5Ac in fibroblasts"},{"scope":"EXACT","text":"Increased level of sialic acid in fibroblasts"}]} +{"alt_ids":[],"definition":null,"id":"HP:0410158","name":"obsolete Increased urine O-phosphoethanolamine level","obsolete":true,"parents":[],"replaced_by":["HP:0003239"],"synonyms":[{"scope":"EXACT","text":"Increased level of O-phosphoethanolamine in urine"}]} +{"alt_ids":[],"definition":"A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication.","id":"HP:0410166","name":"Defective interstrand cross-link repair","obsolete":false,"parents":["HP:0003254"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality of the chest muscles.","id":"HP:0410167","name":"Abnormal morphology of the chest musculature","obsolete":false,"parents":["HP:0040286"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the chest musculature"},{"scope":"BROAD","text":"Muscle issues in the chest"}]} +{"alt_ids":[],"definition":"Any abnormality of the back muscles.","id":"HP:0410168","name":"Abnormality of the back musculature","obsolete":false,"parents":["HP:0040286"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Muscle issues in the back"}]} +{"alt_ids":[],"definition":"A structural abnormality of the shoulder (glenohumeral) muscles, which comprise the rotator cuff (supraspinatus, infraspinatus, teres minor, subscapularis), the deltoid, the latissimus dorsi, and the pectoralis major.","id":"HP:0410169","name":"Abnormal morphology of the shoulder musculature","obsolete":false,"parents":["HP:0001446"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the shoulder musculature"},{"scope":"EXACT","text":"Muscle issues in the shoulder"}]} +{"alt_ids":[],"definition":"Partial or complete wasting (loss) of hippocampus tissue that was once present.","id":"HP:0410170","name":"Hippocampal atrophy","obsolete":false,"parents":["HP:0007112","HP:0025100"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atrophy of the hippocampus"},{"scope":"EXACT","text":"Degeneration of the hippocampus"}]} +{"alt_ids":[],"definition":"Increased concentration of cotinine in urine.","id":"HP:0410171","name":"Increased cotinine level","obsolete":false,"parents":["HP:0031840"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a xenobiotic in blood.","id":"HP:0410172","name":"Blood xenobiotic","obsolete":false,"parents":["HP:0031838"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.","id":"HP:0410173","name":"Increased circulating troponin I concentration","obsolete":false,"parents":["HP:0500020"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased troponin I level in blood"}]} +{"alt_ids":[],"definition":"An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.","id":"HP:0410174","name":"Increased circulating troponin T concentration","obsolete":false,"parents":["HP:0500020"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased troponin T level in blood"}]} +{"alt_ids":[],"definition":"An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood.","id":"HP:0410175","name":"Hyperketonemia","obsolete":false,"parents":["HP:0001946"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating ketone body concentration"},{"scope":"EXACT","text":"Increased level of ketone bodies in blood"},{"scope":"EXACT","text":"Ketonemia"}]} +{"alt_ids":["HP:0410177"],"definition":"An anomaly in the level of glucose-6-phosphate dehydrogenase.","id":"HP:0410176","name":"Abnormal circulating glucose-6-phosphate dehydrogenase concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal G6PD level"},{"scope":"EXACT","text":"Abnormal G6PD level in blood"},{"scope":"EXACT","text":"Abnormal glucose-6-phosphate dehydrogenase level"},{"scope":"EXACT","text":"Abnormal glucose-6-phosphate dehydrogenase level in blood"}]} +{"alt_ids":[],"definition":null,"id":"HP:0410177","name":"obsolete Abnormal glucose-6-phosphate dehydrogenase level in blood","obsolete":true,"parents":[],"replaced_by":["HP:0410176"],"synonyms":[]} +{"alt_ids":[],"definition":"The activity of glucose-6-phosphate dehydrogenase in the blood circulation is above the upper limit of normal.","id":"HP:0410178","name":"Elevated circulating glucose-6-phosphate dehydrogenase activity","obsolete":false,"parents":["HP:0410176"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated glucose-6-phosphate dehydrogenase concentration"},{"scope":"EXACT","text":"Elevated glucose-6-phosphate dehydrogenase level"},{"scope":"EXACT","text":"Elevated glucose-6-phosphate dehydrogenase level in blood"},{"scope":"EXACT","text":"Increased G6PD level in blood"},{"scope":"EXACT","text":"Increased glucose-6-phosphate dehydrogenase concentration"},{"scope":"EXACT","text":"Increased glucose-6-phosphate dehydrogenase level"},{"scope":"EXACT","text":"Increased glucose-6-phosphate dehydrogenase level in blood"}]} +{"alt_ids":[],"definition":"The activity of glucose-6-phosphate dehydrogenase in the blood circulation is below the lower limit of normal.","id":"HP:0410179","name":"Decreased circulating glucose-6-phosphate dehydrogenase activity","obsolete":false,"parents":["HP:0410176"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased G6PD level in blood"},{"scope":"EXACT","text":"Decreased glucose-6-phosphate dehydrogenase concentration"},{"scope":"EXACT","text":"Decreased glucose-6-phosphate dehydrogenase level"},{"scope":"EXACT","text":"Decreased glucose-6-phosphate dehydrogenase level in blood"},{"scope":"EXACT","text":"Reduced glucose-6-phosphate dehydrogenase concentration"},{"scope":"EXACT","text":"Reduced glucose-6-phosphate dehydrogenase level"},{"scope":"EXACT","text":"Reduced glucose-6-phosphate dehydrogenase level in blood"}]} +{"alt_ids":[],"definition":"An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.","id":"HP:0410180","name":"Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot","obsolete":false,"parents":["HP:0410176"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal G6PD level in dried blood spot"},{"scope":"EXACT","text":"Abnormal glucose-6-phosphate dehydrogenase level in DBS"}]} +{"alt_ids":[],"definition":"An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.","id":"HP:0410181","name":"Increased glucose-6-phosphate dehydrogenase level in dried blood 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+{"alt_ids":[],"definition":"An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells.","id":"HP:0410184","name":"Abnormal erythrocyte glucose-6-phosphate dehydrogenase concentration","obsolete":false,"parents":["HP:0034737"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal G6PD level in RBCs"},{"scope":"EXACT","text":"Abnormal G6PD level in red blood cells"},{"scope":"EXACT","text":"Abnormal glucose-6-phosphate dehydrogenase level in red blood cells"}]} +{"alt_ids":[],"definition":"An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue.","id":"HP:0410185","name":"Abnormal glucose-6-phosphate dehydrogenase level in tissue","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal G6PD level in tissue"}]} +{"alt_ids":[],"definition":"An increase in the level of glucose-6-phosphate dehydrogenase in tissue.","id":"HP:0410186","name":"Increased glucose-6-phosphate dehydrogenase level in tissue","obsolete":false,"parents":["HP:0410185"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased G6PD level in tissue"}]} +{"alt_ids":[],"definition":"A decrease in the level of glucose-6-phosphate dehydrogenase in tissue.","id":"HP:0410187","name":"Decreased glucose-6-phosphate dehydrogenase level in tissue","obsolete":false,"parents":["HP:0410185"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased G6PD level in tissue"}]} +{"alt_ids":[],"definition":"A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells.","id":"HP:0410188","name":"Decreased erythrocyte glucose-6-phosphate dehydrogenase concentration","obsolete":false,"parents":["HP:0410184"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased G6PD level in RBCs"},{"scope":"EXACT","text":"Decreased G6PD level in red blood cells"},{"scope":"EXACT","text":"Decreased glucose-6-phosphate dehydrogenase level in red blood cells"}]} +{"alt_ids":[],"definition":"An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells.","id":"HP:0410189","name":"Increased erythrocyte glucose-6-phosphate dehydrogenase concentration","obsolete":false,"parents":["HP:0410184"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased G6PD level in RBCs"},{"scope":"EXACT","text":"Increased G6PD level in red blood cells"},{"scope":"EXACT","text":"Increased glucose-6-phosphate dehydrogenase level in red blood cells"}]} +{"alt_ids":[],"definition":"A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes.","id":"HP:0410190","name":"Decreased glucose-6-phosphate dehydrogenase level in leukocytes","obsolete":false,"parents":["HP:0410183"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased G6PD level in leukocytes"}]} +{"alt_ids":[],"definition":"An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes.","id":"HP:0410191","name":"Increased glucose-6-phosphate dehydrogenase level in leukocytes","obsolete":false,"parents":["HP:0410183"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased G6PD level in leukocytes"}]} +{"alt_ids":[],"definition":null,"id":"HP:0410192","name":"obsolete Abnormal uridine diphosphate glucose-4-epimerase level","obsolete":true,"parents":[],"replaced_by":["HP:0410193"],"synonyms":[]} +{"alt_ids":["HP:0410192"],"definition":"An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.","id":"HP:0410193","name":"Abnormal circulating UDP glucose-4-epimerase concentration","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal UDP-glucose 4-epimerase activity level in plasma"},{"scope":"EXACT","text":"Abnormal circulating uridine diphosphate glucose-4-epimerase concentration"},{"scope":"EXACT","text":"Abnormal uridine diphosphate glucose-4-epimerase level in plasma"}]} +{"alt_ids":[],"definition":"An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.","id":"HP:0410194","name":"Increased circulating UDP glucose-4-epimerase concentration","obsolete":false,"parents":["HP:0410193"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased UDP-glucose 4-epimerase level in plasma"},{"scope":"EXACT","text":"Increased circulating uridine diphosphate glucose-4-epimerase concentration"},{"scope":"EXACT","text":"Increased uridine diphosphate glucose-4-epimerase level in plasma"}]} +{"alt_ids":[],"definition":"A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.","id":"HP:0410195","name":"Decreased circulating UDP glucose-4-epimerase concentration","obsolete":false,"parents":["HP:0410193"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased UDP glucose-4-epimerase level in plasma"},{"scope":"EXACT","text":"Decreased UDP-glucose 4-epimerase level in plasma"},{"scope":"EXACT","text":"Decreased circulating uridine diphosphate glucose-4-epimerase concentration"},{"scope":"EXACT","text":"Decreased uridine diphosphate glucose-4-epimerase level in plasma"}]} +{"alt_ids":[],"definition":"An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.","id":"HP:0410196","name":"Abnormal erythrocyte UDP glucose-4-epimerase concentration","obsolete":false,"parents":["HP:0030272"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal UDP-glucose 4-epimerase level in RBCs"},{"scope":"EXACT","text":"Abnormal UDP-glucose 4-epimerase level in red blood cells"},{"scope":"EXACT","text":"Abnormal erythrocyte uridine diphosphate glucose-4-epimerase concentration"},{"scope":"EXACT","text":"Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells"}]} +{"alt_ids":[],"definition":"An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.","id":"HP:0410197","name":"Increased erythrocyte UDP glucose-4-epimerase concentration","obsolete":false,"parents":["HP:0410196"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased UDP-glucose 4-epimerase level in RBCs"},{"scope":"EXACT","text":"Increased UDP-glucose 4-epimerase level in red blood cells"},{"scope":"EXACT","text":"Increased uridine diphosphate glucose-4-epimerase level in red blood cells"}]} +{"alt_ids":[],"definition":"A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.","id":"HP:0410198","name":"Decreased erythrocyte UDP glucose-4-epimerase concentration","obsolete":false,"parents":["HP:0410196"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased UDP-glucose 4-epimerase level in RBCs"},{"scope":"EXACT","text":"Decreased UDP-glucose 4-epimerase level in red blood cells"},{"scope":"EXACT","text":"Decreased erythrocyte uridine diphosphate glucose-4-epimerase concentration"},{"scope":"EXACT","text":"Decreased uridine diphosphate glucose-4-epimerase level in red blood cells"}]} +{"alt_ids":[],"definition":"Increased concentration of urate in the cerebrospinal fluid.","id":"HP:0410199","name":"Increased CSF urate concentration","obsolete":false,"parents":["HP:0500117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated CSF urate concentration"},{"scope":"EXACT","text":"Increased cerebrospinal fluid urate"}]} +{"alt_ids":[],"definition":"Detection of barbiturate metabolites such as phenobarbital in meconium.","id":"HP:0410200","name":"Positive meconium barbiturate test","obsolete":false,"parents":["HP:0500098"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of barbiturate metabolites such as phenobarbital in the hair.","id":"HP:0410201","name":"Positive hair barbiturate test","obsolete":false,"parents":["HP:0500099"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of barbiturate metabolites such as phenobarbital in the stool.","id":"HP:0410202","name":"Positive stool barbiturate test","obsolete":false,"parents":["HP:0500097"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of barbiturate metabolites such as phenobarbital in the gastric fluid.","id":"HP:0410203","name":"Positive gastric fluid barbiturate test","obsolete":false,"parents":["HP:0500101"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in the length of time required for food to pass through the intestines.","id":"HP:0410204","name":"Increased intestinal transit time","obsolete":false,"parents":["HP:0030896"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of nicotinurate in the blood.","id":"HP:0410205","name":"Abnormal circulating nicotinurate concentration","obsolete":false,"parents":["HP:0004364"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal circulating N-nicotinoylglycine level"},{"scope":"EXACT","text":"Abnormal circulating nicotinurate level"}]} +{"alt_ids":[],"definition":"An increased amount of nicotinurate in the blood.","id":"HP:0410206","name":"Increased circulating nicotinurate level","obsolete":false,"parents":["HP:0410205"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased circulating N-nicotinoylglycine level"}]} +{"alt_ids":[],"definition":"Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum.","id":"HP:0410207","name":"Positive methadone plasma/serum test","obsolete":false,"parents":["HP:0500100"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum.","id":"HP:0410208","name":"Positive plasma/serum cotinine test","obsolete":false,"parents":["HP:0500100"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid.","id":"HP:0410209","name":"Folate deficiency in CSF","obsolete":false,"parents":["HP:0020351"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Folate deficiency in cerebrospinal fluid"}]} +{"alt_ids":[],"definition":"An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level.","id":"HP:0410210","name":"Abnormal cord blood measurement","obsolete":false,"parents":["HP:0010881"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0410211","name":"Abnormal blood gas level in cord blood","obsolete":false,"parents":["HP:0410210"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally high level of blood oxygen in the cord blood.","id":"HP:0410212","name":"Hyperoxemia in cord blood","obsolete":false,"parents":["HP:0500259"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High cord blood oxygen level"}]} +{"alt_ids":[],"definition":"An abnormally low level of blood oxygen in the cord blood.","id":"HP:0410213","name":"Hypoxemia in cord blood","obsolete":false,"parents":["HP:0500259"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low cord blood oxygen level"}]} +{"alt_ids":[],"definition":"Abnormally elevated blood carbon dioxide (CO2) level in the cord blood.","id":"HP:0410214","name":"Hypercapnia in cord blood","obsolete":false,"parents":["HP:0500258"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High cord blood carbon dioxide level"}]} +{"alt_ids":[],"definition":"Abnormally decreased blood carbon dioxide (CO2) level in the cord blood.","id":"HP:0410215","name":"Hypocapnia in cord blood","obsolete":false,"parents":["HP:0500258"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low cord blood carbon dioxide level"}]} +{"alt_ids":[],"definition":"An abnormal concentration of 5-methyltetrahydrofolate (5-MTHF) in the blood.","id":"HP:0410216","name":"Abnormal circulating 5-methyltetrahydrofolate concentration","obsolete":false,"parents":["HP:0040087"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal blood 5-methyltetrahydrofolate level"},{"scope":"EXACT","text":"Abnormal serum methylfolate Level"}]} +{"alt_ids":[],"definition":"A decreased concentration of 5-methyltetrahydrofolate in the blood.","id":"HP:0410217","name":"Reduced blood 5-methyltetrahydrofolate level","obsolete":false,"parents":["HP:0410216"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced serum methylfolate Level"}]} +{"alt_ids":[],"definition":"Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw).","id":"HP:0410218","name":"Hypoplasia of maxilla relative to mandible","obsolete":false,"parents":["HP:0000327"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disorder of maxillary and mandibular dental arch relationship"}]} +{"alt_ids":[],"definition":"Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw).","id":"HP:0410219","name":"Hypoplasia of mandible relative to maxilla","obsolete":false,"parents":["HP:0000347"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disorder of mandibular and maxillary dental arch relationship"}]} +{"alt_ids":[],"definition":"Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products.","id":"HP:0410220","name":"Increased anti-dairy protein IgE antibody level","obsolete":false,"parents":["HP:0410227"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Increased anti-dairy IgE antibody level"}]} +{"alt_ids":[],"definition":"Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine.","id":"HP:0410221","name":"Increased anti-animal protein IgE antibody level","obsolete":false,"parents":["HP:0032336"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased level of anti-animal protein IgE antibody"}]} +{"alt_ids":[],"definition":"Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone.","id":"HP:0410222","name":"Increased anti-seafood IgE antibody level","obsolete":false,"parents":["HP:0410227"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased level of anti-seafood IgE antibody"}]} +{"alt_ids":[],"definition":"Increased level of IgE antibody against dust mites, such as house dust mites.","id":"HP:0410223","name":"Increased anti-dust mite IgE antibody level","obsolete":false,"parents":["HP:0032336"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased level of anti-dust mite IgE antibody"}]} +{"alt_ids":[],"definition":"Increased level of IgE antibody against bacteria.","id":"HP:0410224","name":"Increased anti-bacteria IgE antibody level","obsolete":false,"parents":["HP:0032336"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased level of anti-bacteria IgE antibody"}]} +{"alt_ids":[],"definition":"Increased level of IgE antibody against a drug or class of drugs, such as antibiotics.","id":"HP:0410225","name":"Increased anti-drug IgE antibody level","obsolete":false,"parents":["HP:0032336"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased level of anti-drug IgE antibody"}]} +{"alt_ids":[],"definition":"Increased level of IgE antibody against feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers.","id":"HP:0410226","name":"Increased anti-feather IgE antibody level","obsolete":false,"parents":["HP:0032336"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish.","id":"HP:0410227","name":"Increased anti-food allergen IgE antibody level","obsolete":false,"parents":["HP:0032336"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased level of anti-food allergen IgE antibody"}]} +{"alt_ids":[],"definition":"Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits.","id":"HP:0410228","name":"Increased anti-plant based food allergen IgE antibody level","obsolete":false,"parents":["HP:0410227"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased level of anti-plant based food allergen IgE antibody"}]} +{"alt_ids":[],"definition":"Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye.","id":"HP:0410229","name":"Increased anti-gluten IgE antibody level","obsolete":false,"parents":["HP:0410227"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased level of anti-gluten IgE antibody"}]} +{"alt_ids":[],"definition":"Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds.","id":"HP:0410230","name":"Increased anti-nut food product IgE antibody level","obsolete":false,"parents":["HP:0410227"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid.","id":"HP:0410231","name":"Increased anti-egg IgE antibody level","obsolete":false,"parents":["HP:0410227"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota.","id":"HP:0410232","name":"Increased anti-fungi IgE antibody level","obsolete":false,"parents":["HP:0032336"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased anti-fungal IgE antibody level"},{"scope":"EXACT","text":"Increased anti-fungus IgE antibody level"}]} +{"alt_ids":[],"definition":"Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken.","id":"HP:0410233","name":"Increased anti-meat allergen IgE antibody level","obsolete":false,"parents":["HP:0410227"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii.","id":"HP:0410234","name":"Increased anti-parasite IgE antibody level","obsolete":false,"parents":["HP:0032336"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches.","id":"HP:0410235","name":"Increased anti-insect IgE antibody level","obsolete":false,"parents":["HP:0032336"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets.","id":"HP:0410236","name":"Increased anti-venom IgE antibody level","obsolete":false,"parents":["HP:0410235"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen.","id":"HP:0410238","name":"Increased anti-plant product IgE antibody level","obsolete":false,"parents":["HP:0032336"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of norcotinine, a metabolite of nicotine, in urine.","id":"HP:0410239","name":"Positive urine norcotinine test","obsolete":false,"parents":["HP:0031840"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal deviation from normal levels of IgA immunoglobulin in blood.","id":"HP:0410240","name":"Abnormal circulating IgA concentration","obsolete":false,"parents":["HP:0010701"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal IgA level in blood"},{"scope":"EXACT","text":"Abnormal circulating IgA level"}]} +{"alt_ids":[],"definition":"An abnormal deviation from normal levels of IgE immunoglobulin in blood.","id":"HP:0410241","name":"Abnormal circulating IgE concentration","obsolete":false,"parents":["HP:0010701"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal IgE level in blood"},{"scope":"EXACT","text":"Abnormal circulating IgE level"}]} +{"alt_ids":[],"definition":"An abnormal deviation from normal levels of IgG immunoglobulin in blood.","id":"HP:0410242","name":"Abnormal circulating IgG concentration","obsolete":false,"parents":["HP:0010701"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal IgG level in blood"},{"scope":"EXACT","text":"Abnormal circulating IgG level"}]} +{"alt_ids":[],"definition":"An abnormal deviation from normal levels of IgM immunoglobulin in blood.","id":"HP:0410243","name":"Abnormal circulating IgM concentration","obsolete":false,"parents":["HP:0010701"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal IgM level in blood"},{"scope":"EXACT","text":"Abnormal circulating IgM level"}]} +{"alt_ids":[],"definition":"An abnormal deviation from normal levels of IgD immunoglobulin in blood.","id":"HP:0410244","name":"Abnormal circulating IgD concentration","obsolete":false,"parents":["HP:0010701"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal IgD level in blood"},{"scope":"EXACT","text":"Abnormal circulating IgD level"}]} +{"alt_ids":[],"definition":"An abnormally decreased level of immunoglobulin D (IgD) in blood.","id":"HP:0410245","name":"Decreased circulating IgD concentration","obsolete":false,"parents":["HP:0004313","HP:0410244"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased IgD"},{"scope":"EXACT","text":"Decreased IgD in blood"},{"scope":"EXACT","text":"Decreased circulating IgD"},{"scope":"EXACT","text":"IgD deficiency"}]} +{"alt_ids":[],"definition":"An abnormally increased level of immunoglobulin D in blood.","id":"HP:0410246","name":"Increased circulating IgD concentration","obsolete":false,"parents":["HP:0010702","HP:0410244"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated IgD"},{"scope":"EXACT","text":"Elevated serum IgD"},{"scope":"EXACT","text":"IgD hypergammaglobulinemia"},{"scope":"EXACT","text":"Increased IgD level"},{"scope":"EXACT","text":"Increased circulating IgD level"},{"scope":"EXACT","text":"Increased levels of IgD"},{"scope":"EXACT","text":"Increased serum IgD"}]} +{"alt_ids":[],"definition":"Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats.","id":"HP:0410247","name":"Increased anti-animal dander IgE antibody level","obsolete":false,"parents":["HP:0410221"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased level of anti-dander IgE antibody"}]} +{"alt_ids":[],"definition":"Increased level of IgE antibody against house dust mites, a common allergen.","id":"HP:0410248","name":"Increased anti-house dust mite IgE antibody level","obsolete":false,"parents":["HP:0410223"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased anti-house dust IgE antibody level"},{"scope":"EXACT","text":"Increased level of anti-house dust IgE antibody"}]} +{"alt_ids":[],"definition":"Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat.","id":"HP:0410249","name":"Increased anti-alpha-gal IgE antibody level","obsolete":false,"parents":["HP:0032336"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased anti-galactose-alpha-1, 3 galactose IgE antibody level"}]} +{"alt_ids":[],"definition":"Abnormal decrease of neutrophil activation following toll-like receptor (TLR) ligation, commonly measured by evaluation of CD62L shedding after stimulation with lipopolysaccharide (LPS) using flow cytometry.","id":"HP:0410251","name":"Decreased neutrophil toll-like receptor signalling","obsolete":false,"parents":["HP:0011990"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal L-selectin shedding"}]} +{"alt_ids":[],"definition":"Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, which persists for 3 or more months.","id":"HP:0410252","name":"Persistently decreased total neutrophil count","obsolete":false,"parents":["HP:0001875"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic neutropenia"}]} +{"alt_ids":[],"definition":"Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.","id":"HP:0410253","name":"Myeloid maturation arrest","obsolete":false,"parents":["HP:0033606"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Myeloid maturation arrest in bone marrow"}]} +{"alt_ids":[],"definition":"Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.","id":"HP:0410254","name":"Cyclic neutropenia in myeloid maturation arrest in bone marrow","obsolete":false,"parents":["HP:0040289"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, which persists for less than 3 months and then spontaneously recovers, but does not recur cyclically.","id":"HP:0410255","name":"Transiently decreased total neutrophil count","obsolete":false,"parents":["HP:0001875"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Transient neutropenia"}]} +{"alt_ids":[],"definition":"Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan.","id":"HP:0410256","name":"Infection associated neutropenia","obsolete":false,"parents":["HP:0410255"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus.","id":"HP:0410257","name":"Neutrophilia in presence of infection","obsolete":false,"parents":["HP:0011897"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders.","id":"HP:0410258","name":"Neutrophilia in absence of infection","obsolete":false,"parents":["HP:0011897"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fusion of the liver with the lung.","id":"HP:0410259","name":"Hepatopulmonary fusion","obsolete":false,"parents":["HP:0410042"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hepatic pulmonary fusion"}]} +{"alt_ids":[],"definition":"The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg.","id":"HP:0410260","name":"Asymmetrical gluteal crease","obsolete":false,"parents":["HP:0001437"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Asymmetrical buttock crease"},{"scope":"EXACT","text":"Asymmetrical gluteal sulcus"},{"scope":"EXACT","text":"Asymmetrical horizontal gluteal crease"}]} +{"alt_ids":[],"definition":"A widely spaced gap between the fourth toe and the fifth (pinky) toe.","id":"HP:0410261","name":"Wide space between 4th and 5th toe","obsolete":false,"parents":["HP:0010321"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wide space between the 4th and 5th toe"}]} +{"alt_ids":[],"definition":"A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves.","id":"HP:0410262","name":"Lower cranial nerve dysfunction","obsolete":false,"parents":["HP:0031910"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal lower cranial nerve function"}]} +{"alt_ids":[],"definition":"An anomaly of metabolism or structure of the brain identified by imaging.","id":"HP:0410263","name":"Brain imaging abnormality","obsolete":false,"parents":["HP:0012638"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal brain imaging"}]} +{"alt_ids":[],"definition":"A hemangioma, a benign tumor of the vascular endothelial cells, located in the airway, typically below the vocal chords, that can cause severe obstruction of the airway.","id":"HP:0410264","name":"Subglottic hemangioma","obsolete":false,"parents":["HP:0001028"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Airway hemangioma"}]} +{"alt_ids":[],"definition":"A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords.","id":"HP:0410265","name":"Supraglottic hemangioma","obsolete":false,"parents":["HP:0001028"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A hemangioma arising from within visceral structures, the internal organs of the body.","id":"HP:0410266","name":"Visceral hemangioma","obsolete":false,"parents":["HP:0001028"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel.","id":"HP:0410267","name":"Intestinal hemangioma","obsolete":false,"parents":["HP:0410266"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bowel hemangioma"},{"scope":"EXACT","text":"Intestinal hemangiomas"}]} +{"alt_ids":[],"definition":"A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the spleen.","id":"HP:0410268","name":"Spleen hemangioma","obsolete":false,"parents":["HP:0001028"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Splenic hemangioma"}]} +{"alt_ids":[],"definition":"A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip.","id":"HP:0410269","name":"Labial hemangioma","obsolete":false,"parents":["HP:0001028"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus.","id":"HP:0410270","name":"Esophageal hemangioma","obsolete":false,"parents":["HP:0001028"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions.","id":"HP:0410271","name":"Laryngeal hemangioma","obsolete":false,"parents":["HP:0001028"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Throat hemangioma"}]} +{"alt_ids":[],"definition":"A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva.","id":"HP:0410272","name":"Vulvar hemangioma","obsolete":false,"parents":["HP:0001028"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx.","id":"HP:0410273","name":"Retropharyngeal hemangioma","obsolete":false,"parents":["HP:0001028"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine.","id":"HP:0410274","name":"Paraspinal hemangioma","obsolete":false,"parents":["HP:0001028"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A spinal cord hemangioma located in the lumbosacral spine region.","id":"HP:0410275","name":"Lumbosacral hemangioma","obsolete":false,"parents":["HP:0001028"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lumbar/sacral hemangioma"}]} +{"alt_ids":[],"definition":"An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button).","id":"HP:0410276","name":"Supraumbilical raphe","obsolete":false,"parents":["HP:0000766"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Midline supraumbilical raphe"}]} +{"alt_ids":[],"definition":"A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum.","id":"HP:0410277","name":"Sternal pit","obsolete":false,"parents":["HP:0000766"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A fluid-filled sacs that develop on or near the pituitary gland.","id":"HP:0410278","name":"Pituitary gland cyst","obsolete":false,"parents":["HP:0010576"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cyst of the pituitary gland"}]} +{"alt_ids":[],"definition":"Partial or complete wasting (loss) of the pituitary gland.","id":"HP:0410279","name":"Atrophic pituitary gland","obsolete":false,"parents":["HP:0012506"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atrophic pituitary"},{"scope":"EXACT","text":"Pituitary gland atrophy"}]} +{"alt_ids":[],"definition":"Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset.","id":"HP:0410280","name":"Pediatric onset","obsolete":false,"parents":["HP:0003674"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Onset before adulthood"},{"scope":"EXACT","text":"Paediatric onset"}]} +{"alt_ids":[],"definition":"A heterogeneous group of symptoms that are localized in the epigastric region. Typical dyspeptic symptoms include postprandial fullness, early satiation, epigastric pain and epigastric burning, but other upper gastrointestinal symptoms such as nausea, belching or abdominal bloating often occur.","id":"HP:0410281","name":"Dyspepsia","obsolete":false,"parents":["HP:0002027"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Indigestion"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of amylase in the blood circulation.","id":"HP:0410282","name":"Abnormal circulating amylase concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal circulating amylase level"}]} +{"alt_ids":[],"definition":"Detection of acetaminophen in the blood.","id":"HP:0410283","name":"Positive blood acetaminophen test","obsolete":false,"parents":["HP:0410172"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive blood Tylenol test"},{"scope":"EXACT","text":"Positive blood paracetamol test"}]} +{"alt_ids":[],"definition":"Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene.","id":"HP:0410284","name":"Positive norpropoxyphene blood test","obsolete":false,"parents":["HP:0410172"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium.","id":"HP:0410285","name":"Positive meconium methadone test","obsolete":false,"parents":["HP:0500098"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia.","id":"HP:0410286","name":"Positive blood molindone test","obsolete":false,"parents":["HP:0410172"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive blood Moban test"}]} +{"alt_ids":[],"definition":"A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region.","id":"HP:0410287","name":"Intrathoracic hemangioma","obsolete":false,"parents":["HP:0001028"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chest hemangioma"}]} +{"alt_ids":[],"definition":"The concentration of amylase in the blood circulation is above the upper limit of normal.","id":"HP:0410288","name":"Hyperamylasemia","obsolete":false,"parents":["HP:0410282"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased circulating amylase level"}]} +{"alt_ids":[],"definition":"The concentration of amylase in the blood circulation is below the lower limit of normal.","id":"HP:0410289","name":"Hypoamylasemia","obsolete":false,"parents":["HP:0410282"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating amylase level"}]} +{"alt_ids":[],"definition":"Detection of norpropoxyphene in urine.","id":"HP:0410290","name":"Positive urine norpropoxyphene test","obsolete":false,"parents":["HP:0031840"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Opposing or not responding to instructions or external stimuli.","id":"HP:0410291","name":"Negativism","obsolete":false,"parents":["HP:0000745"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).","id":"HP:0410292","name":"Abnormal circulating isohemagglutinin concentration","obsolete":false,"parents":["HP:0012475"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal circulating isohemagglutinin level"},{"scope":"EXACT","text":"Abnormal level of natural antibody to blood group agents"},{"scope":"EXACT","text":"Abnormal natural antibody level to blood group antigens in blood (isohemagglutinin)"}]} +{"alt_ids":[],"definition":"Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).","id":"HP:0410293","name":"Absent circulating isohemagglutinin","obsolete":false,"parents":["HP:0410292"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent natural antibody to blood group agents"},{"scope":"EXACT","text":"Complete or near-complete absence of isohemagglutinins"}]} +{"alt_ids":[],"definition":"A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination.","id":"HP:0410294","name":"Decreased specific antibody response to protein vaccine","obsolete":false,"parents":["HP:0032140"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.","id":"HP:0410295","name":"Complete or near-complete absence of specific antibody response to tetanus vaccine","obsolete":false,"parents":["HP:0410294"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination.","id":"HP:0410296","name":"Complete or near-complete absence of specific antibody response to hepatitis B vaccine","obsolete":false,"parents":["HP:0410294"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.","id":"HP:0410297","name":"Partial absence of specific antibody response to tetanus vaccine","obsolete":false,"parents":["HP:0410294"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination.","id":"HP:0410298","name":"Partial absence of specific antibody response to hepatitis B vaccine","obsolete":false,"parents":["HP:0410294"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced ability to synthesize postvaccination antibodies against unconjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination.","id":"HP:0410299","name":"Decreased specific antibody response to unconjugated polysaccharide vaccine","obsolete":false,"parents":["HP:0032140"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.","id":"HP:0410300","name":"Complete or near-complete absence of specific antibody response to unconjugated pneumococcus polysaccharide","obsolete":false,"parents":["HP:0410299"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.","id":"HP:0410301","name":"Partial absence of specific antibody response to unconjugated pneumococcus polysaccharide","obsolete":false,"parents":["HP:0410299"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination.","id":"HP:0410302","name":"Decreased specific antibody response to protein-conjugated polysaccharide vaccine","obsolete":false,"parents":["HP:0032140"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The inability to synthesize postvaccination antibodies against a protein-conjugated Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.","id":"HP:0410303","name":"Complete or near-complete absence of specific antibody response to protein-conjugated Haemophilus influenzae type b vaccine","obsolete":false,"parents":["HP:0410302"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The inability to synthesize postvaccination antibodies against a protein-conjugated meningococcus antigen, as measured by antibody titer determination following vaccination.","id":"HP:0410304","name":"Complete or near-complete absence of specific antibody response to protein-conjugated meningococcus vaccine","obsolete":false,"parents":["HP:0410302"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced ability to synthesize postvaccination antibodies against a protein-conjugated Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.","id":"HP:0410305","name":"Partial absence of specific antibody response to protein-conjugated Haemophilus influenzae type b vaccine","obsolete":false,"parents":["HP:0410302"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced ability to synthesize postvaccination antibodies against a protein-conjugated meningococcus antigen, as measured by antibody titer determination following vaccination.","id":"HP:0410306","name":"Partial absence of specific antibody response to protein-conjugated meningococcus vaccine","obsolete":false,"parents":["HP:0410302"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of methadone and its metabolites in the stool.","id":"HP:0410307","name":"Positive stool methadone test","obsolete":false,"parents":["HP:0500097"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection.","id":"HP:0410308","name":"Decreased specific antibody response to infection","obsolete":false,"parents":["HP:0012475"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of alpha-aminoadipic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0410309","name":"Alpha-aminoadipic aciduria","obsolete":false,"parents":["HP:0003215","HP:0033098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"2-aminoadipic aciduria"}]} +{"alt_ids":[],"definition":"An abnormal form or size of neutrophils in the cerebrospinal fluid.","id":"HP:0410310","name":"Abnormality of neutrophil morphology in CSF","obsolete":false,"parents":["HP:0002921"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of neutrophil morphology in cerebrospinal fluid"}]} +{"alt_ids":[],"definition":"Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid.","id":"HP:0410311","name":"Hyposegmentation of neutrophil nuclei in CSF","obsolete":false,"parents":["HP:0410310"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyposegmentation of neutrophil nuclei in cerebrospinal fluid"}]} +{"alt_ids":[],"definition":"An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid.","id":"HP:0410312","name":"Hypersegmentation of neutrophil nuclei in CSF","obsolete":false,"parents":["HP:0410310"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypersegmentation of neutrophil nuclei in cerebrospinal fluid"}]} +{"alt_ids":[],"definition":"Abnormal concentration of 1-methylhistidine in the urine.","id":"HP:0410313","name":"Abnormal urinary 1-methylhistidine concentration","obsolete":false,"parents":["HP:0033097"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased concentration of 1-methylhistidine in the urine.","id":"HP:0410314","name":"Decreased urinary 1-methylhistidine","obsolete":false,"parents":["HP:0410313"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased concentration of 1-methylhistidine in the urine.","id":"HP:0410315","name":"Increased urinary 1-methylhistidine","obsolete":false,"parents":["HP:0410313"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"1-Methylhistidinuria"}]} +{"alt_ids":[],"definition":"Abnormal amount of 3-methylhistidine in the urine.","id":"HP:0410316","name":"Abnormal urinary 3-methylhistidine level","obsolete":false,"parents":["HP:0033097"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased concentration of 3-methylhistidine in the urine.","id":"HP:0410317","name":"Increased urinary 3-methylhistidine","obsolete":false,"parents":["HP:0410316"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"3-Methylhistidinuria"}]} +{"alt_ids":[],"definition":"Decreased concentration of 3-methylhistidine in the urine.","id":"HP:0410318","name":"Decreased urinary 3-methylhistidine","obsolete":false,"parents":["HP:0410316"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hypersensitivity in form of an adverse immune reaction against alpha-gal.","id":"HP:0410319","name":"Alpha-gal allergy","obsolete":false,"parents":["HP:0012393"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Allergy to alpha-gal"},{"scope":"EXACT","text":"Alpha-gal allergy"},{"scope":"EXACT","text":"IgE-mediated alpha-gal allergy"},{"scope":"EXACT","text":"Immunoglobulin E-mediated alpha-gal allergy"}]} +{"alt_ids":[],"definition":"Hypersensitivity in form of an adverse immune reaction against animal proteins.","id":"HP:0410320","name":"Animal protein allergy","obsolete":false,"parents":["HP:0012393"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Allergy to animal proteins"},{"scope":"EXACT","text":"Animal protein allergy"},{"scope":"EXACT","text":"IgE-mediated animal protein allergy"},{"scope":"EXACT","text":"Immunoglobulin E-mediated animal protein allergy"}]} +{"alt_ids":[],"definition":"Hypersensitivity in form of an adverse immune reaction against animal dander.","id":"HP:0410321","name":"Animal dander allergy","obsolete":false,"parents":["HP:0410320"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Allergy to animal dander"},{"scope":"EXACT","text":"Animal dander allergy"},{"scope":"EXACT","text":"IgE-mediated animal dander allergy"},{"scope":"EXACT","text":"Immunoglobulin E-mediated animal dander allergy"}]} +{"alt_ids":[],"definition":"Hypersensitivity in form of an adverse immune reaction against bacteria.","id":"HP:0410322","name":"Bacteria allergy","obsolete":false,"parents":["HP:0012393"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Allergy to bacteria"},{"scope":"EXACT","text":"Bacteria allergy"},{"scope":"EXACT","text":"IgE-mediated bacteria allergy"},{"scope":"EXACT","text":"Immunoglobulin E-mediated bacteria allergy"}]} +{"alt_ids":[],"definition":"Hypersensitivity in form of an adverse immune reaction against drugs.","id":"HP:0410323","name":"Drug allergy","obsolete":false,"parents":["HP:0012393"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Allergy to drugs"},{"scope":"EXACT","text":"Drug allergy"},{"scope":"EXACT","text":"IgE-mediated drug allergy"},{"scope":"EXACT","text":"Immunoglobulin E-mediated drug allergy"}]} +{"alt_ids":["HP:0410325"],"definition":"Hypersensitivity in form of an adverse immune reaction against dust mites.","id":"HP:0410324","name":"Dust mite allergy","obsolete":false,"parents":["HP:0012393"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Allergy to dust mites"},{"scope":"EXACT","text":"Dust mite allergy"},{"scope":"EXACT","text":"House dust mite allergy"},{"scope":"EXACT","text":"IgE-mediated dust mite allergy"},{"scope":"EXACT","text":"Immunoglobulin E-mediated dust mite allergy"}]} +{"alt_ids":[],"definition":null,"id":"HP:0410325","name":"obsolete House dust mite allergy","obsolete":true,"parents":[],"replaced_by":["HP:0410324"],"synonyms":[]} +{"alt_ids":[],"definition":"Hypersensitivity in form of an adverse immune reaction against feathers.","id":"HP:0410326","name":"Feather allergy","obsolete":false,"parents":["HP:0012393"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Allergy to feathers"},{"scope":"EXACT","text":"Feather allergy"},{"scope":"EXACT","text":"IgE-mediated feather allergy"},{"scope":"EXACT","text":"Immunoglobulin E-mediated feather allergy"}]} +{"alt_ids":[],"definition":"Hypersensitivity in form of an adverse immune reaction against dairy.","id":"HP:0410327","name":"Dairy allergy","obsolete":false,"parents":["HP:0500093"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Allergy to dairy"},{"scope":"EXACT","text":"Dairy allergy"},{"scope":"EXACT","text":"IgE-mediated dairy allergy"},{"scope":"EXACT","text":"Immunoglobulin E-mediated dairy allergy"}]} +{"alt_ids":[],"definition":"Hypersensitivity in form of an adverse immune reaction against eggs.","id":"HP:0410328","name":"Egg allergy","obsolete":false,"parents":["HP:0500093"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Allergy to eggs"},{"scope":"EXACT","text":"Egg allergy"},{"scope":"EXACT","text":"IgE-mediated egg allergy"},{"scope":"EXACT","text":"Immunoglobulin E-mediated egg allergy"}]} +{"alt_ids":[],"definition":"Hypersensitivity in form of an adverse immune reaction against gluten.","id":"HP:0410329","name":"Gluten allergy","obsolete":false,"parents":["HP:0500093"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Allergy to gluten"},{"scope":"EXACT","text":"Gluten allergy"},{"scope":"EXACT","text":"IgE-mediated gluten allergy"},{"scope":"EXACT","text":"Immunoglobulin E-mediated gluten allergy"}]} +{"alt_ids":[],"definition":"Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products.","id":"HP:0410330","name":"Meat allergen allergy","obsolete":false,"parents":["HP:0500093"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Allergy to meat allergens"},{"scope":"EXACT","text":"IgE-mediated meat allergen allergy"},{"scope":"EXACT","text":"Immunoglobulin E-mediated meat allergen allergy"},{"scope":"EXACT","text":"Meat allergen allergy"},{"scope":"EXACT","text":"Meat allergy"}]} +{"alt_ids":[],"definition":"Hypersensitivity in form of an adverse immune reaction against nut food products.","id":"HP:0410331","name":"Nut food product allergy","obsolete":false,"parents":["HP:0410332"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Allergy to nut food products"},{"scope":"EXACT","text":"IgE-mediated nut food product allergy"},{"scope":"EXACT","text":"Immunoglobulin E-mediated nut food product allergy"},{"scope":"EXACT","text":"Nut allergy"},{"scope":"EXACT","text":"Nut food product allergy"}]} +{"alt_ids":[],"definition":"Hypersensitivity in form of an adverse immune reaction against plant based food allergens.","id":"HP:0410332","name":"Plant based food allergy","obsolete":false,"parents":["HP:0500093"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Allergy to plant based food allergens"},{"scope":"EXACT","text":"IgE-mediated plant based food allergen allergy"},{"scope":"EXACT","text":"Immunoglobulin E-mediated plant based food allergen allergy"},{"scope":"EXACT","text":"Plant based food allergy"}]} +{"alt_ids":[],"definition":"Hypersensitivity in form of an adverse immune reaction against seafood.","id":"HP:0410333","name":"Seafood allergy","obsolete":false,"parents":["HP:0500093"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Allergy to seafood"},{"scope":"EXACT","text":"IgE-mediated seafood allergy"},{"scope":"EXACT","text":"Immunoglobulin E-mediated seafood allergy"},{"scope":"EXACT","text":"Seafood allergy"}]} +{"alt_ids":[],"definition":"Hypersensitivity in form of an adverse immune reaction against fungus.","id":"HP:0410334","name":"Fungi allergy","obsolete":false,"parents":["HP:0012393"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Allergy to fungi"},{"scope":"EXACT","text":"Fungal allergy"},{"scope":"EXACT","text":"Fungi allergy"},{"scope":"EXACT","text":"Fungus allergy"},{"scope":"EXACT","text":"IgE-mediated fungi allergy"},{"scope":"EXACT","text":"Immunoglobulin E-mediated fungi allergy"}]} +{"alt_ids":[],"definition":"Hypersensitivity in form of an adverse immune reaction against insects.","id":"HP:0410335","name":"Insect allergy","obsolete":false,"parents":["HP:0012393"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Allergy to insects"},{"scope":"EXACT","text":"IgE-mediated insect allergy"},{"scope":"EXACT","text":"Immunoglobulin E-mediated insect allergy"},{"scope":"EXACT","text":"Insect allergy"}]} +{"alt_ids":[],"definition":"Hypersensitivity in form of an adverse immune reaction against insect venom.","id":"HP:0410336","name":"Venom allergy","obsolete":false,"parents":["HP:0410335"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Allergy to venom"},{"scope":"EXACT","text":"IgE-mediated venom allergy"},{"scope":"EXACT","text":"Immunoglobulin E-mediated venom allergy"},{"scope":"EXACT","text":"Venom allergy"}]} +{"alt_ids":[],"definition":"Hypersensitivity in form of an adverse immune reaction against parasites.","id":"HP:0410337","name":"Parasite allergy","obsolete":false,"parents":["HP:0012393"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Allergy to parasites"},{"scope":"EXACT","text":"IgE-mediated parasite allergy"},{"scope":"EXACT","text":"Immunoglobulin E-mediated parasite allergy"},{"scope":"EXACT","text":"Parasite allergy"}]} +{"alt_ids":[],"definition":"Hypersensitivity in form of an adverse immune reaction against plant products.","id":"HP:0410338","name":"Plant product allergy","obsolete":false,"parents":["HP:0012393"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Allergy to plant products"},{"scope":"EXACT","text":"IgE-mediated plant product allergy"},{"scope":"EXACT","text":"Immunoglobulin E-mediated plant product allergy"},{"scope":"EXACT","text":"Plant product allergy"}]} +{"alt_ids":[],"definition":"Hypersensitivity in form of an adverse immune reaction against insect bites.","id":"HP:0410339","name":"Insect bite allergy","obsolete":false,"parents":["HP:0410335"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Allergy to insect bites"},{"scope":"EXACT","text":"IgE-mediated insect bite allergy"},{"scope":"EXACT","text":"Immunoglobulin E-mediated insect bite allergy"},{"scope":"EXACT","text":"Insect bite allergy"}]} +{"alt_ids":[],"definition":"The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate.","id":"HP:0410340","name":"Focal epithelial hyperplasia of oral mucosa","obsolete":false,"parents":["HP:0011830"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Focal epithelial hyperplasia of the lining of mouth"},{"scope":"EXACT","text":"Oral mucosa epithelial hyperplasia"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of heparan sulfate in the blood circulation.","id":"HP:0410341","name":"Abnormal circulating heparan sulfate concentration","obsolete":false,"parents":["HP:0004364","HP:0011012"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal circulating heparan sulphate level"},{"scope":"EXACT","text":"Abnormal heparan sulfate level"},{"scope":"EXACT","text":"Abnormality of the concentration of heparan sulfate in the blood"},{"scope":"EXACT","text":"Abnormality of the concentration of heparan sulphate in the blood"}]} +{"alt_ids":[],"definition":"An abnormal increase in the concentration of heparan sulfate in the blood.","id":"HP:0410342","name":"Increased circulating heparan sulfate level","obsolete":false,"parents":["HP:0410341"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased blood heparan sulfate concentration"},{"scope":"EXACT","text":"Increased blood heparan sulphate concentration"},{"scope":"EXACT","text":"Increased circulating heparan sulphate level"}]} +{"alt_ids":[],"definition":"The concentration of heparan sulfate in the blood circulation is below the lower limit of normal.","id":"HP:0410343","name":"Decreased circulating heparan sulfate concentration","obsolete":false,"parents":["HP:0410341"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased blood heparan sulfate concentration"},{"scope":"EXACT","text":"Decreased blood heparan sulphate concentration"},{"scope":"EXACT","text":"Decreased circulating heparan sulphate level"},{"scope":"EXACT","text":"Decreased heparan sulfate concentration"},{"scope":"EXACT","text":"Decreased heparan sulfate level"},{"scope":"EXACT","text":"Decreased heparan sulfate level in blood"},{"scope":"EXACT","text":"Reduced heparan sulfate concentration"},{"scope":"EXACT","text":"Reduced heparan sulfate level"},{"scope":"EXACT","text":"Reduced heparan sulfate level in blood"}]} +{"alt_ids":[],"definition":"Decreased length of O-fucosylated glycans present on properdin.","id":"HP:0410344","name":"Shortened O-fucosylated glycan on properdin","obsolete":false,"parents":["HP:0012359"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Presence of terminal O-fucose glycans on properdin"}]} +{"alt_ids":[],"definition":"An abnormal increase in the concentration of polyhexose in the urine.","id":"HP:0410345","name":"Increased urinary polyhexose","obsolete":false,"parents":["HP:0010471"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased polyhexose concentration in urine"}]} +{"alt_ids":[],"definition":"An abnormal increase in the concentration of galactosylated oligosaccharides in urine.","id":"HP:0410346","name":"Increased urinary galactosylated oligosaccharide","obsolete":false,"parents":["HP:0010471"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased concentration of galactosylated oligosaccharides in urine"}]} +{"alt_ids":[],"definition":"An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine.","id":"HP:0410347","name":"Increased urinary high-mannose-type oligosaccharide","obsolete":false,"parents":["HP:0010471"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased concentration of high-mannose-type oligosaccharides in urine"}]} +{"alt_ids":[],"definition":"An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine.","id":"HP:0410348","name":"Increased urinary multiantennary sialylated oligosaccharide","obsolete":false,"parents":["HP:0010471"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increase concentration of multiantennary sialylated oligosaccharides in urine"}]} +{"alt_ids":[],"definition":"An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic level.","id":"HP:0410349","name":"Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal increase in the concentration of small fucosylated oligosaccharides in the urine.","id":"HP:0410350","name":"Increased urinary fucosylated oligosaccharide","obsolete":false,"parents":["HP:0010471"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased concentration of fucosylated oligosaccharides in urine"}]} +{"alt_ids":[],"definition":"An abnormal concentration of complex N-glycans on glycoproteins.","id":"HP:0410351","name":"Abnormal complex N-glycan level","obsolete":false,"parents":["HP:0012347"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal concentration of complex N-glycans on glycoproteins"}]} +{"alt_ids":[],"definition":"An abnormal increase in the concentration of complex N-glycans on glycoproteins.","id":"HP:0410352","name":"Increased complex N-glycan level","obsolete":false,"parents":["HP:0410351"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased concentration of complex N-glycans on glycoproteins"}]} +{"alt_ids":[],"definition":"An abnormal decrease in the concentration of complex N-glycans on glycoproteins.","id":"HP:0410353","name":"Decreased complex N-glycan level","obsolete":false,"parents":["HP:0410351"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased truncated complex N-glycans on glycoproteins"}]} +{"alt_ids":[],"definition":"An abnormal increase in the concentration of sialylated N-glycans on glycoproteins.","id":"HP:0410354","name":"Increased sialylated N-glycan level","obsolete":false,"parents":["HP:0012349"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased concentration of sialylated N-glycans on glycoproteins"}]} +{"alt_ids":[],"definition":"An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins.","id":"HP:0410355","name":"Decreased sialylated N-glycan level","obsolete":false,"parents":["HP:0012349"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased concentration of sialylated N-glycans on glycoproteins"}]} +{"alt_ids":[],"definition":"An abnormal concentration of high-mannose N-glycans on glycoproteins.","id":"HP:0410356","name":"Abnormal high-mannose N-glycan level","obsolete":false,"parents":["HP:0012347"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal high-mannose N-glycans on glycoprotein concentration"}]} +{"alt_ids":[],"definition":"An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins.","id":"HP:0410357","name":"Increased high-mannose N-glycan level","obsolete":false,"parents":["HP:0410356"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased high-mannose N-glycans on glycoprotein concentration"}]} +{"alt_ids":[],"definition":"An abnormal decrease in the concentration of high-mannose N-glycans on glycoproteins.","id":"HP:0410358","name":"Decreased high-mannose N-glycan level","obsolete":false,"parents":["HP:0410356"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased high-mannose N-glycans on glycoprotein concentration"}]} +{"alt_ids":[],"definition":"An abnormal in the concentration of core 1 O-glycans on glycoproteins.","id":"HP:0410359","name":"Abnormal core 1 O-glycan level","obsolete":false,"parents":["HP:0012358"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal concentration of T-antigen"}]} +{"alt_ids":[],"definition":"An abnormal increase in the concentration of core 1 O-glycans on glycoproteins.","id":"HP:0410360","name":"Increased core 1 O-glycan level","obsolete":false,"parents":["HP:0410359"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased T-antigen concentration"}]} +{"alt_ids":[],"definition":"An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins.","id":"HP:0410361","name":"Decreased core 1 O-glycan level","obsolete":false,"parents":["HP:0410359"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased T-antigen concentration"}]} +{"alt_ids":[],"definition":"Hypoglycosylation of alpha-dystroglycan with O-mannosyl glycans. Alpha-dystroglycan is a functional target of O-mannosyl glycosylation and functional glycosylation of alpha-DG is essential in its interaction with the extracellular matrix.","id":"HP:0410362","name":"Decreased O-mannosyl glycans on alpha-dystroglycan","obsolete":false,"parents":["HP:0012358"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced O-mannosyl glycans on alpha-dystroglycan"}]} +{"alt_ids":[],"definition":"An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins.","id":"HP:0410363","name":"Increased monosialylated core 1 O-glycan level","obsolete":false,"parents":["HP:0012362"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased sialyl T-antigen concentration"}]} +{"alt_ids":[],"definition":"An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins.","id":"HP:0410364","name":"Decreased monosialylated core 1 O-glycan level","obsolete":false,"parents":["HP:0012362"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased sialyl T-antigen concentration"}]} +{"alt_ids":[],"definition":"An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins.","id":"HP:0410365","name":"Increased disialylated core 1 O-glycan level","obsolete":false,"parents":["HP:0012362"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased disialyl T-antigen concentration"}]} +{"alt_ids":[],"definition":"An abnormal increase in the concentration of globoside Gb4.","id":"HP:0410366","name":"Increased globoside Gb4 level","obsolete":false,"parents":["HP:0004343"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased globoside Gb4 concentration"}]} +{"alt_ids":[],"definition":"An abnormally increased level of immunoglobulin against hepatitis A virus in the blood.","id":"HP:0410367","name":"Increased hepatitis A virus antibody level","obsolete":false,"parents":["HP:0430051"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal increase in the concentration of glycolipid globoside Gb3.","id":"HP:0410368","name":"Increased globoside Gb3 level","obsolete":false,"parents":["HP:0004343"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased globoside Gb3 concentration"}]} +{"alt_ids":[],"definition":"An abnormally increased level of immunoglobulin against hepatitis B virus in the blood.","id":"HP:0410369","name":"Increased hepatitis B virus antibody level","obsolete":false,"parents":["HP:0430051"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The absence of ganglioside GM3.","id":"HP:0410370","name":"Absence of ganglioside GM3","obsolete":false,"parents":["HP:0004343"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally increased level of immunoglobulin against hepatitis C virus in the blood.","id":"HP:0410371","name":"Increased hepatitis C virus antibody level","obsolete":false,"parents":["HP:0430051"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal increase in the concentration of Tn antigen on glycoproteins.","id":"HP:0410372","name":"Increased Tn-antigen level","obsolete":false,"parents":["HP:0012358"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased O-GalNac on glycoprotein concentration"}]} +{"alt_ids":[],"definition":"Abnormal increase or decrease of the naive CD4+ T cell subpopulation, commonly characterized as CD45RA+, CD45RO-, or CD27+, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. These cells are sometimes also characterized as CD62L+ and CCR7+.","id":"HP:0410373","name":"Abnormal naive CD4+ T cell proportion","obsolete":false,"parents":["HP:0031392","HP:0031396"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal naive CD4-positive T cell proportion"},{"scope":"EXACT","text":"Abnormal proportion of CD4+CD45RA+ cells"},{"scope":"EXACT","text":"Abnormal proportion of naive CD4 T cells"},{"scope":"EXACT","text":"Abnormal proportion of naive CD4+ T cells"},{"scope":"EXACT","text":"Abnormal proportion of naive thymus-derived CD4-positive, alpha-beta T cells"}]} +{"alt_ids":[],"definition":"Abnormal increase or decrease of the naive CD8+ T cell subpopulation, commonly characterized as CD45RA+, CD45RO-, or CD27+, measured as percentage of total CD8+ T cells in the blood, compared to a reference range for a given sex and age-group. These cells are sometimes also characterized as CD62L+ and CCR7+.","id":"HP:0410374","name":"Abnormal naive CD8+ T cell proportion","obsolete":false,"parents":["HP:0020115","HP:0031396"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal naive CD8 T cell proportion"},{"scope":"EXACT","text":"Abnormal proportion of naive CD8 T cells"},{"scope":"EXACT","text":"Abnormal proportion of naive CD8+ T cells"}]} +{"alt_ids":[],"definition":null,"id":"HP:0410375","name":"Increased naive CD4+ T cell proportion","obsolete":false,"parents":["HP:0031398","HP:0410373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated proportion of naive CD4 T cells"},{"scope":"EXACT","text":"Increased naive CD4-positive T cell proportion"},{"scope":"EXACT","text":"Increased proportion of CD4+CD45RA+ cells"},{"scope":"EXACT","text":"Increased proportion of naive CD4+ T cells"},{"scope":"EXACT","text":"Increased proportion of naive thymus-derived CD4-positive, alpha-beta T cells"}]} +{"alt_ids":[],"definition":"Abnormal increase of the naive CD8+ T cell subpopulation, commonly characterized as CD45RA+, CD45RO-, or CD27+, measured as percentage of total CD8+ T cells in the blood, compared to a reference range for a given sex and age-group. These cells are sometimes also characterized as CD62L+ and CCR7+.","id":"HP:0410376","name":"Increased naive CD8+ T cell proportion","obsolete":false,"parents":["HP:0031398","HP:0410374"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated proportion of naive CD8 T cells"},{"scope":"EXACT","text":"Elevated proportion of naive thymus-derived CD8-positive, alpha-beta T cells"},{"scope":"EXACT","text":"Increased proportion of naive CD8 T cells"},{"scope":"EXACT","text":"Increased proportion of naive CD8+ T cells"}]} +{"alt_ids":[],"definition":"Abnormal decrease of the naive CD8+ T cell subpopulation, commonly characterized as CD45RA+, CD45RO-, or CD27+, measured as percentage of total CD8+ T cells in the blood, compared to a reference range for a given sex and age-group. These cells are sometimes also characterized as CD62L+ and CCR7+.","id":"HP:0410377","name":"Decreased naive CD8+ T cell proportion","obsolete":false,"parents":["HP:0031397","HP:0410374"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased naive CD8 T cell proportion"},{"scope":"EXACT","text":"Decreased proportion of naive CD8 T cells"},{"scope":"EXACT","text":"Decreased proportion of naive CD8+ T cells"},{"scope":"EXACT","text":"Reduced proportion of naive CD8 T cells"},{"scope":"EXACT","text":"Reduced proportion of naive thymus-derived CD8-positive, alpha-beta T cells"}]} +{"alt_ids":[],"definition":"The proportion of naive CD4 T cells relative to the total number of T cells is below the lower limit of normal.","id":"HP:0410378","name":"Decreased naive CD4+ T cell proportion","obsolete":false,"parents":["HP:0031397","HP:0410373"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased naive CD4-positive T cell proportion"},{"scope":"EXACT","text":"Decreased proportion of CD4+CD45RA+ cells"},{"scope":"EXACT","text":"Decreased proportion of naive CD4 T cells"},{"scope":"EXACT","text":"Decreased proportion of naive CD4+ T cells"},{"scope":"EXACT","text":"Decreased proportion of naive thymus-derived CD4-positive, alpha-beta T cells"},{"scope":"EXACT","text":"Reduced proportion of naive CD4 T cells"}]} +{"alt_ids":["HP:0025623","HP:0410381","HP:0410382"],"definition":"Abnormal increase or decrease of the memory CD4+ T cell subpopulation, commonly characterized as CD45RA-, CD45RO+, or CD27-, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group.","id":"HP:0410379","name":"Abnormal memory CD4+ T cell proportion","obsolete":false,"parents":["HP:0031392","HP:0032182"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal CD4+ memory T cell proportion"},{"scope":"EXACT","text":"Abnormal proportion of CD4+ memory T cells"},{"scope":"EXACT","text":"Abnormal proportion of CD4-positive memory T cells"}]} +{"alt_ids":[],"definition":"Abnormal increase or decrease of the memory CD8+ T cell subpopulation, commonly characterized as CD45RA-, CD45RO+, or CD27-, measured as percentage of total CD8+ T cells in the blood, compared to a reference range for a given sex and age-group.","id":"HP:0410380","name":"Abnormal memory CD8+ T cell proportion","obsolete":false,"parents":["HP:0020115","HP:0032182"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal CD8+ memory T cell proportion"},{"scope":"EXACT","text":"Abnormal proportion of CD8-positive memory T cells"}]} +{"alt_ids":[],"definition":null,"id":"HP:0410381","name":"obsolete Abnormal proportion of central memory CD4-positive T cells","obsolete":true,"parents":[],"replaced_by":["HP:0410379"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0410382","name":"obsolete Abnormal proportion of effector memory CD4-positive, alpha-beta T cells","obsolete":true,"parents":[],"replaced_by":["HP:0025623","HP:0410379"],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.","id":"HP:0410383","name":"Abnormal effector memory CD8+ T cell proportion","obsolete":false,"parents":["HP:0410380"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal proportion of effector memory CD8-positive T cells"}]} +{"alt_ids":[],"definition":"An abnormal proportion of central memory CD8-positive memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.","id":"HP:0410384","name":"Abnormal central memory CD8+ T cell proportion","obsolete":false,"parents":["HP:0410380"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal proportion of central memory CD8-positive T cells"}]} +{"alt_ids":[],"definition":"Decreased proportion of CD8-positive memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.","id":"HP:0410385","name":"Decreased memory CD8+ T cell proportion","obsolete":false,"parents":["HP:0032183","HP:0410380"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased proportion of CD8-positive memory T cells"}]} +{"alt_ids":[],"definition":"Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.","id":"HP:0410386","name":"Decreased CD4+ memory T cell proportion","obsolete":false,"parents":["HP:0032183","HP:0410379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased proportion of CD4-positive memory T cells"}]} +{"alt_ids":[],"definition":null,"id":"HP:0410387","name":"obsolete Decreased proportion of effector memory CD4-positive, alpha-beta T cells","obsolete":true,"parents":[],"replaced_by":["HP:0025624"],"synonyms":[]} +{"alt_ids":["HP:0025622"],"definition":"A reduced proportion of central memory CD4-positive memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.","id":"HP:0410388","name":"Decreased central memory CD4+ T cell proportion","obsolete":false,"parents":["HP:0410386","HP:5210410"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased proportion of CD4+ central memory cells"},{"scope":"EXACT","text":"Decreased proportion of CD4-positive central memory cells"},{"scope":"EXACT","text":"Decreased proportion of central memory CD4+, alpha-beta T cell"},{"scope":"EXACT","text":"Reduced proportion of CD4+ central memory cells"}]} +{"alt_ids":[],"definition":"A reduced proportion of CD8-positive central memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.","id":"HP:0410389","name":"Decreased central memory CD8+ T cell proportion","obsolete":false,"parents":["HP:0410384","HP:0410385"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased proportion of central memory CD8-positive T cells"}]} +{"alt_ids":[],"definition":"A reduced proportion of CD8-positive effector memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.","id":"HP:0410390","name":"Decreased effector memory CD8+ T cell proportion","obsolete":false,"parents":["HP:0410383","HP:0410385"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased proportion of effector memory CD8-positive T cells"}]} +{"alt_ids":[],"definition":"Abnormal increase of the memory CD4+ T cell subpopulation, commonly characterized as CD45RA-, CD45RO+, or CD27-, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group.","id":"HP:0410391","name":"Increased memory CD4+ T cell proportion","obsolete":false,"parents":["HP:0032184","HP:0410379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased CD4+ memory T cell proportion"},{"scope":"EXACT","text":"Increased proportion of CD4+ memory T cells"},{"scope":"EXACT","text":"Increased proportion of CD4-positive memory T cells"}]} +{"alt_ids":[],"definition":"Abnormal increase of the memory CD8+ T cell subpopulation, commonly characterized as CD45RA-, CD45RO+, or CD27-, measured as percentage of total CD8+ T cells in the blood, compared to a reference range for a given sex and age-group.","id":"HP:0410392","name":"Increased memory CD8+ T cell proportion","obsolete":false,"parents":["HP:0032184","HP:0410380"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased proportion of CD8-positive memory T cells"}]} +{"alt_ids":["HP:0025621"],"definition":"An abnormally elevated proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.","id":"HP:0410393","name":"Increased central memory CD4+ T cell proportion","obsolete":false,"parents":["HP:0410391","HP:5210410"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated proportion central memory CD4-positive, alpha-beta T cells"},{"scope":"EXACT","text":"Elevated proportion of CD4+ central memory cells"},{"scope":"EXACT","text":"Increased proportion of CD4+ central memory cells"},{"scope":"EXACT","text":"Increased proportion of central memory CD4+, alpha-beta T cell"}]} +{"alt_ids":[],"definition":null,"id":"HP:0410394","name":"obsolete Increased effector memory CD4-positive T cell proportion","obsolete":true,"parents":[],"replaced_by":["HP:0025625"],"synonyms":[]} +{"alt_ids":[],"definition":"An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.","id":"HP:0410395","name":"Increased effector memory CD8+ T cell proportion","obsolete":false,"parents":["HP:0410383","HP:0410392"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased proportion of effector memory CD8-positive T cells"}]} +{"alt_ids":[],"definition":"An increased proportion of central memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.","id":"HP:0410396","name":"Increased central memory CD8+ T cell proportion","obsolete":false,"parents":["HP:0410384","HP:0410392"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased proportion of central memory CD8-positive T cells"}]} +{"alt_ids":[],"definition":"Saccular dilatation of the terminal bronchioles.","id":"HP:0410397","name":"Bronchiolectasis","obsolete":false,"parents":["HP:0025426"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bronchiolectasia"}]} +{"alt_ids":[],"definition":"Detection of lead in the blood.","id":"HP:0410399","name":"Positive blood lead test","obsolete":false,"parents":["HP:0410172"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased blood lead level"}]} +{"alt_ids":[],"definition":"Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.","id":"HP:0410400","name":"Absent sebaceous glands","obsolete":false,"parents":["HP:0032226"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of sebaceous glands"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is exacerbated in the evening as compared to the day.","id":"HP:0410401","name":"Worse in evening","obsolete":false,"parents":["HP:0012823"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the frontal bone.","id":"HP:0430000","name":"Abnormal frontal bone morphology","obsolete":false,"parents":["HP:0002683"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Abnormal morphology of frontal bone"},{"scope":"EXACT","text":"Abnormality of the bone of the forehead"},{"scope":"EXACT","text":"Abnormality of the frontal bone"},{"scope":"NARROW","text":"Anomaly of the frontal bone"},{"scope":"NARROW","text":"Deformity of the frontal bone"},{"scope":"NARROW","text":"Malformation of the frontal bone"}]} +{"alt_ids":[],"definition":"An abnormality of the lacrimal bone.","id":"HP:0430002","name":"Abnormal lacrimal bone morphology","obsolete":false,"parents":["HP:0011821"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Anomaly of the lacrimal bone"},{"scope":"NARROW","text":"Deformity of the lacrimal bone"},{"scope":"NARROW","text":"Malformation of the lacrimal bone"}]} +{"alt_ids":[],"definition":"An abnormality of the palatine bone.","id":"HP:0430003","name":"Abnormal palatine bone morphology","obsolete":false,"parents":["HP:0011821"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the palatine bone"},{"scope":"NARROW","text":"Anomaly of the palatine bone"},{"scope":"NARROW","text":"Deformity of the palatine bone"},{"scope":"NARROW","text":"Malformation of the palatine bone"}]} +{"alt_ids":[],"definition":null,"id":"HP:0430004","name":"Frontomalar faciosynostosis","obsolete":false,"parents":["HP:0011821"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the ethmoid bone","id":"HP:0430005","name":"Abnormal ethmoid bone morphology","obsolete":false,"parents":["HP:0011821"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of ethmoid bone"},{"scope":"NARROW","text":"Anomaly of the ethmoid bone"},{"scope":"NARROW","text":"Deformity of the ethmoid bone"},{"scope":"NARROW","text":"Malformation of the ethmoid bone"}]} +{"alt_ids":[],"definition":"An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid.","id":"HP:0430006","name":"Ectopic cilia of eyelid","obsolete":false,"parents":["HP:0000499"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball.","id":"HP:0430007","name":"Symblepharon","obsolete":false,"parents":["HP:0000492"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eyelid adhesion to globe of eye"},{"scope":"EXACT","text":"Eyelid stuck to eyeball"}]} +{"alt_ids":[],"definition":"The presence of more than the normal number of eyelids.","id":"HP:0430008","name":"Accessory eyelid","obsolete":false,"parents":["HP:0000492"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Double eyelid"},{"scope":"EXACT","text":"Extra eyelid"}]} +{"alt_ids":[],"definition":"Developmental hypoplasia of the eyelid.","id":"HP:0430009","name":"Hypoplasia of eyelid","obsolete":false,"parents":["HP:0011226"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased size of eyelid"},{"scope":"EXACT","text":"Hypoplasia of the eyelid"},{"scope":"EXACT","text":"Hypoplastic eyelid"},{"scope":"NARROW","text":"Short eyelid"},{"scope":"BROAD","text":"Small eyelid"},{"scope":"EXACT","text":"Underdevelopment of eyelid"}]} +{"alt_ids":[],"definition":"Abnormal shortness of the vertical dimensions of the eyelids.","id":"HP:0430010","name":"Microblepharia","obsolete":false,"parents":["HP:0000492"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormally small eyelid"}]} +{"alt_ids":[],"definition":"An abnormality of the palpebral conjunctiva.","id":"HP:0430011","name":"Defect of palpebral conjunctiva","obsolete":false,"parents":["HP:0000502"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Failure to complete ossification (maturation and calcification) of the palatine bone.","id":"HP:0430012","name":"Incomplete ossification of palatine bone","obsolete":false,"parents":["HP:0430003"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Incomplete calcification of palatine bone"},{"scope":"RELATED","text":"Incomplete formation of palatine bone"},{"scope":"NARROW","text":"Incomplete mineralization of palatine bone"}]} +{"alt_ids":[],"definition":"Lack of formation of the palatine bone.","id":"HP:0430013","name":"Absent palatine bone ossification","obsolete":false,"parents":["HP:0430003"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Absence of palatine bone calcification"},{"scope":"RELATED","text":"Absence of palatine bone formation"},{"scope":"NARROW","text":"Absence of palatine bone mineralization"}]} +{"alt_ids":[],"definition":"An abnormality of one or more of the five muscles of the soft palate.","id":"HP:0430014","name":"Abnormality of musculature of soft palate","obsolete":false,"parents":["HP:0040286","HP:0100736"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of soft palate muscles"}]} +{"alt_ids":[],"definition":"An abnormality of any of the muscles of the pharynx.","id":"HP:0430015","name":"Abnormal morphology of musculature of pharynx","obsolete":false,"parents":["HP:0033151","HP:0040286"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of muscles of the pharynx"},{"scope":"EXACT","text":"Abnormality of musculature of pharynx"},{"scope":"EXACT","text":"Abnormality of pharyngeal musculature"},{"scope":"EXACT","text":"Abnormality of pharynx musculature"}]} +{"alt_ids":[],"definition":"An abnormality of the tensor veli palatini muscle","id":"HP:0430016","name":"Abnormality of tensor veli palatini muscle","obsolete":false,"parents":["HP:0430014"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the uvular muscle","id":"HP:0430017","name":"Abnormality of uvular muscle","obsolete":false,"parents":["HP:0000172","HP:0430014"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of musculus uvulae"}]} +{"alt_ids":[],"definition":"An abnormality of the muscles of the structure of the nose.","id":"HP:0430018","name":"Abnormality of nasal musculature","obsolete":false,"parents":["HP:0000301"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of muscle of nose"},{"scope":"EXACT","text":"Abnormality of musculature of the nose"},{"scope":"EXACT","text":"Abnormality of nasal musculature"}]} +{"alt_ids":[],"definition":"An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression.","id":"HP:0430019","name":"Abnormality of muscle of facial expression","obsolete":false,"parents":["HP:0000301"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of muscle of facial expression"},{"scope":"EXACT","text":"Abnormality of musculature of facial expression"}]} +{"alt_ids":[],"definition":"An abnormality of the levator labii superioris alaeque nasi muscle.","id":"HP:0430020","name":"Abnormality of levator labii superioris alaeque nasi muscle","obsolete":false,"parents":["HP:0430019"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery.","id":"HP:0430021","name":"Abnormal common carotid artery morphology","obsolete":false,"parents":["HP:0005344"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the common carotid artery"}]} +{"alt_ids":[],"definition":"An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone.","id":"HP:0430022","name":"Abnormality of the sphenoid sinus","obsolete":false,"parents":["HP:0000245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the sphenoidal sinus"}]} +{"alt_ids":[],"definition":"An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity.","id":"HP:0430023","name":"Abnormality of the maxillary sinus","obsolete":false,"parents":["HP:0000245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the antrum of Highmore"},{"scope":"EXACT","text":"Abnormality of the maxillary antrum"},{"scope":"EXACT","text":"Abnormality of the upper jaw sinus"}]} +{"alt_ids":[],"definition":"An abnormality of an external jugular vein of the neck.","id":"HP:0430024","name":"Abnormality of external jugular vein","obsolete":false,"parents":["HP:3000042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Two-sided or bilateral weakness of the muscles of facial expression and eye closure.","id":"HP:0430025","name":"Bilateral facial palsy","obsolete":false,"parents":["HP:0010628"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bilateral facial muscle paralysis"},{"scope":"EXACT","text":"Bilateral facial muscle weakness"},{"scope":"EXACT","text":"Bilateral facial paralysis"},{"scope":"EXACT","text":"Paralysis of both sides of the face"},{"scope":"EXACT","text":"Weakness of both sides of the face"}]} +{"alt_ids":[],"definition":null,"id":"HP:0430026","name":"obsolete Abnormality of the shape of the midface","obsolete":true,"parents":[],"replaced_by":["HP:0000309"],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla.","id":"HP:0430028","name":"Hyperplasia of the maxilla","obsolete":false,"parents":["HP:0000326"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Big maxilla"},{"scope":"EXACT","text":"Big upper jaw"},{"scope":"EXACT","text":"Hyperplasia of upper jaw"},{"scope":"RELATED","text":"Hypertrophy of maxilla"},{"scope":"RELATED","text":"Hypertrophy of upper jaw"},{"scope":"NARROW","text":"Increased projection of maxilla"},{"scope":"NARROW","text":"Increased projection of upper jaw"},{"scope":"EXACT","text":"Increased size of maxilla"},{"scope":"EXACT","text":"Increased size of upper jaw"},{"scope":"EXACT","text":"Large maxilla"},{"scope":"EXACT","text":"Large upper jaw"},{"scope":"EXACT","text":"Maxillary excess"},{"scope":"EXACT","text":"Maxillary hyperplasia"},{"scope":"EXACT","text":"Maxillary macrognathia"},{"scope":"RELATED","text":"Maxillary prognathia"},{"scope":"EXACT","text":"Maxillary prominence"},{"scope":"RELATED","text":"Prognathia of the upper jaw"},{"scope":"EXACT","text":"Prominent maxilla"},{"scope":"EXACT","text":"Prominent upper jaw"},{"scope":"EXACT","text":"Upper jaw bone excess"},{"scope":"EXACT","text":"Upper jaw excess"}]} +{"alt_ids":[],"definition":"An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures.","id":"HP:0430029","name":"Hyperplasia of the premaxilla","obsolete":false,"parents":["HP:0010758"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperplasia of the intermaxillary bone"},{"scope":"EXACT","text":"Hyperplasia of the primary palate bone"},{"scope":"EXACT","text":"Increased size of premaxilla"},{"scope":"EXACT","text":"Increased size of the primary palate bone"},{"scope":"EXACT","text":"Large premaxilla"},{"scope":"EXACT","text":"Large primary palate bone"},{"scope":"EXACT","text":"Premaxillary excess"},{"scope":"EXACT","text":"Primary palate bone excess"}]} +{"alt_ids":[],"definition":"Any kind of test for an infectious agent in a specimen positive.","id":"HP:0430030","name":"Positive infectious agent test","obsolete":false,"parents":["HP:0001939"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of viral DNA (e.g., cytomegalovirus, herpes simplex virus, or varicella zoster virus) in the aqueous humor of the eye.","id":"HP:0430031","name":"Aqueous humor viral DNA positivity","obsolete":false,"parents":["HP:0430030"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of use of electronic cigarettes (vaping).","id":"HP:0430032","name":"Electronic cigarette exposure history","obsolete":false,"parents":["HP:0430133"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Electronic cigarette or vape use"},{"scope":"EXACT","text":"Vaping"}]} +{"alt_ids":[],"definition":"Erythematous macules or patches over extensor surfaces of elbows, knuckles, knees, and ankles.","id":"HP:0430033","name":"Gottron sign","obsolete":false,"parents":["HP:0012733"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Resistant hypertension is defined as above-goal elevated blood pressure in a patient despite the concurrent use of 3 antihypertensive drug classes, commonly including a long-acting calcium channel blocker, a blocker of the renin-angiotensin system (angiotensin-converting enzyme inhibitor or angiotensin receptor blocker), and a diuretic.","id":"HP:0430034","name":"Hypertension resistant to conventional therapy","obsolete":false,"parents":["HP:0000822"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Resistant hypertension"}]} +{"alt_ids":[],"definition":"Deposition of excess calcium in the interosseous membrane of the leg, which extends between the interosseous crests of the tibia and fibula and separates the anterior and posterior muscles of the lower leg.","id":"HP:0430035","name":"Tibiofibular interosseous membrane calcification","obsolete":false,"parents":["HP:0100491"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Calcification of the interosseous membrane of leg"},{"scope":"EXACT","text":"Calcification of the middle tibiofibular joint"}]} +{"alt_ids":[],"definition":"A type of elbow fracture that involves the distal humerus just above the elbow.","id":"HP:0430036","name":"Supracondylar elbow fracture","obsolete":false,"parents":["HP:0041219"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Alcohol abuse or dependence.","id":"HP:0430037","name":"Abnormal alcohol consumption","obsolete":false,"parents":["HP:0030858"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Thoracic lordosis refers to an abnormal curvature of the thoracic spine in which the thoracic spine displays lordosis (inward curve) instead of the normal kyphosis (outward curve).","id":"HP:0430043","name":"Thoracic lordosis","obsolete":false,"parents":["HP:0010674"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Refers to pain or discomfort that is perceived to travel from the chest into the left arm.","id":"HP:0430044","name":"Radiation into left arm","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Refers to pain or discomfort that is perceived to travel from the chest into the right arm.","id":"HP:0430045","name":"Radiation into right arm","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The capability that a small joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Small joints include metacarpophalangeal joints, proximal interphalangeal joints, \nsecond to fifth metatarsophalangeal joints, and wrists.","id":"HP:0430046","name":"Small joint hypermobility","obsolete":false,"parents":["HP:0001382"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The capability that a large joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Large joints include shoulders, elbows, hips, knees, and ankles.","id":"HP:0430047","name":"Large joint hypermobility","obsolete":false,"parents":["HP:0001382"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Intracranial calcifications refer to calcifications within the brain parenchyma or vasculature. The five major components of the brain comprise the cerebrum, cerebellum, brain stem, pituitary gland, and hypothalamus.","id":"HP:0430048","name":"Intracranial calcification","obsolete":false,"parents":["HP:0010766"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Brain calcification"},{"scope":"EXACT","text":"Intracranial calcifications"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against one or more components on the thyroid.","id":"HP:0430050","name":"Anti-thyroid antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Antithyroid antibody positivity"}]} +{"alt_ids":[],"definition":"Positive serology for a exposure to an infectious agent (i.e., examining serum for the presence of pathogen-specific antibodies).","id":"HP:0430051","name":"Bloodstream pathogen-specific antibody positivity","obsolete":false,"parents":["HP:0430150"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of the severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2).","id":"HP:0430052","name":"Anti-SARS-CoV-2 coronavirus antibody positivity","obsolete":false,"parents":["HP:0430059"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of the West Nile virus.","id":"HP:0430053","name":"Anti-West Nile virus antibody positivity","obsolete":false,"parents":["HP:0430059"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of a microfilaria (parasite).","id":"HP:0430054","name":"Anti-microfilaria antibody positivity","obsolete":false,"parents":["HP:0430060"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of trypanosoma cruzi.","id":"HP:0430055","name":"Anti-trypanosoma cruzi antibody positivity","obsolete":false,"parents":["HP:0430060"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of chikungunya virus.","id":"HP:0430056","name":"Anti-chikungunya virus antibody positivity","obsolete":false,"parents":["HP:0430059"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of chlamydia psittaci.","id":"HP:0430057","name":"Anti-chlamydia psittaci antibody positivity","obsolete":false,"parents":["HP:0430061"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of herpes simplex.","id":"HP:0430058","name":"Anti-herpes simplex antibody positivity","obsolete":false,"parents":["HP:0430059"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"HSV antibody titer high in blood"}]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a virus.","id":"HP:0430059","name":"Bloodstream virus-specific antibody positivity","obsolete":false,"parents":["HP:0430051"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a parasite.","id":"HP:0430060","name":"Bloodstream parasite-specific antibody positivity","obsolete":false,"parents":["HP:0430051"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a bacterium.","id":"HP:0430061","name":"Bloodstream antibacterial antibody positivity","obsolete":false,"parents":["HP:0430051"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of the Japanese encephalitis virus.","id":"HP:0430062","name":"Anti-Japanese encephalitis virus-specific antibody positivity","obsolete":false,"parents":["HP:0430059"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of chlamydia trachomatis.","id":"HP:0430063","name":"Anti-chlamydia trachomatis-specific antibody positivity","obsolete":false,"parents":["HP:0430061"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of the Epstein Barr virus (EBV).","id":"HP:0430064","name":"Anti-Epstein-Barr virus-specific antibody positivity","obsolete":false,"parents":["HP:0430059"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of a parasite of the genus Babesia (parasite).","id":"HP:0430065","name":"Anti-babesia-specific antibody positivity","obsolete":false,"parents":["HP:0430060"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of the Zika virus.","id":"HP:0430066","name":"Anti-Zikavirus-specific antibody positivity","obsolete":false,"parents":["HP:0430059"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Positive (abnormal) result of a test such as polymerase chain reaction that is targeted against a nucleic acid sequence specific for a pathogen.","id":"HP:0430067","name":"Positive bloodstream nucleic acid pathogen test","obsolete":false,"parents":["HP:0430150"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of nucleic acid of a microfilarial parasite in the blood circulation.","id":"HP:0430068","name":"Positive microfilaria PCR test in the blood circulation","obsolete":false,"parents":["HP:0430067"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of nucleic acid of the JC-virus (JC-Polyomavirus, John Cunningham virus) in the blood circulation.","id":"HP:0430069","name":"Positive JC-virus PCR test in the blood circulation","obsolete":false,"parents":["HP:0430067"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"JC virus PCR in blood positive"}]} +{"alt_ids":[],"definition":"Implantation of the placenta over or near the internal os of the cervix.","id":"HP:0430070","name":"Placenta previa","obsolete":false,"parents":["HP:0100767"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Placenta praevia"}]} +{"alt_ids":[],"definition":"Any deviation of the concentration of an orrganic compound from the normal range. An organic compound is defined as any compound that contains a carbon atom.","id":"HP:0430071","name":"Abnormal circulating organic compound concentration","obsolete":false,"parents":["HP:0032180"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of beta-carotene in the blood circulation.","id":"HP:0430072","name":"Abnormal circulating beta-carotene concentration","obsolete":false,"parents":["HP:0003119"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal beta-carotene level"}]} +{"alt_ids":[],"definition":"The concentration of beta-carotene in the blood circulation is below the lower limit of normal.","id":"HP:0430073","name":"Decreased circulating beta-carotene concentration","obsolete":false,"parents":["HP:0430072"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of beta-carotene in the blood circulation is above the upper limit of normal.","id":"HP:0430074","name":"Increased circulating beta-carotene concentration","obsolete":false,"parents":["HP:0430072"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Blocked mammary ducts represent an area of localized milk stasis, typically associated with breast engorgement and resulting in a localized tender breast lump or area of blushed color; the breast may feel hot; and there may be a white, painful bleb on the end of the nipple.","id":"HP:0430075","name":"Mammary blocked duct","obsolete":false,"parents":["HP:0031094"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Galactocele"},{"scope":"EXACT","text":"Lactation duct obstruction"}]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a fungus.","id":"HP:0430076","name":"Bloodstream antifungal antibody positivity","obsolete":false,"parents":["HP:0430051"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of a fungus of the Coccidioides genus.","id":"HP:0430077","name":"Anti-coccidioidal antibody positivity","obsolete":false,"parents":["HP:0430076"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Coccidioidal antibodies present in blood"}]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of a fungus of the Cryptoccous genus.","id":"HP:0430078","name":"Anti-cryptococcal antibody positivity","obsolete":false,"parents":["HP:0430076"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a mycoplasmal component.","id":"HP:0430079","name":"Anti-mycoplasma antibody positivity","obsolete":false,"parents":["HP:0430061"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of a rickettsial bacterium. Rickettsiae are gram-negative bacteria with an obligate intracellular life cycle circulating between mammalian hosts and hematophagous arthropod vectors","id":"HP:0430080","name":"Anti-rickettsial antibody positivity","obsolete":false,"parents":["HP:0430061"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of Bartonella.","id":"HP:0430081","name":"Anti-Bartonella henselae antibody positivity","obsolete":false,"parents":["HP:0430061"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bartonella henselae antibody titer high in blood"}]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of Dengue virus.","id":"HP:0430082","name":"Anti-Dengue virus antibody positivity","obsolete":false,"parents":["HP:0430059"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dengue antibody titer high in blood"}]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of an Arbovirus.","id":"HP:0430083","name":"Anti-arbovirus antibody positivity","obsolete":false,"parents":["HP:0430059"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of lymphocytic choriomeningitis virus (LCMV).","id":"HP:0430084","name":"Anti-lymphocytic choriomeningitis antibody positivity","obsolete":false,"parents":["HP:0430059"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lymphocytic choriomeningitis virus antibody titer high in blood"}]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of Varicella-zoster virus.","id":"HP:0430085","name":"Anti-varicella-zoster antibody positivity","obsolete":false,"parents":["HP:0430059"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Varicella-zoster antibody titer high in blood"}]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of rubella virus.","id":"HP:0430086","name":"Anti-rubella antibody positivity","obsolete":false,"parents":["HP:0430059"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rubella antibody titer high in blood"}]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of cytomegalovirus (CMV).","id":"HP:0430087","name":"Anti-cytomegalovirus antibody positivity","obsolete":false,"parents":["HP:0430059"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CMV antibody titer high in blood"}]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of measles virus.","id":"HP:0430088","name":"Anti-measles antibody positivity","obsolete":false,"parents":["HP:0430059"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Measles antibody titer high in blood"}]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of a parasite of the genus Schistosomiasis is a parasitic disease historically known as bilharzia caused by the trematode of the genus Schistosoma. Schistosomiasis is a parasitic disease historically known as bilharzia caused by the trematode of the genus Schistosoma.","id":"HP:0430089","name":"Anti-schistosoma antibody positivity","obsolete":false,"parents":["HP:0430060"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Schistosoma antibody titer high in blood"}]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of a Powassan virus (POW), which is an arbovirus within the family of Flaviviruses primarily found in the Northeastern United States, Canada, and Russia. It is a zoonotic infection transmitted to humans by several tick species and is the only member of the tick-borne flaviviruses endemic to North America.","id":"HP:0430090","name":"Anti-Powassan virus antibody positivity","obsolete":false,"parents":["HP:0430083"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-Powassan encephalitis virus antibody positivity"},{"scope":"EXACT","text":"Powassan encephalitis antibody titer high in blood"}]} +{"alt_ids":[],"definition":"Detection of a marker such as a protein by immunohistochemistry or related investigation techniques. The presence or absence of such markers can be used to identify cell types on the basis of a profile of expressed markers. These terms do not imply abnormality and can be used for any cell type or organ.","id":"HP:0430091","name":"Marker expression","obsolete":false,"parents":["HP:0020228"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of the presence of BCL2 on the cell(s) of interest with the use of anti-BCL2 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).","id":"HP:0430092","name":"BCL2 expression","obsolete":false,"parents":["HP:0430091"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of the presence of BCL6 on the cell(s) of interest with the use of anti-BCL6 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).","id":"HP:0430093","name":"BCL6 expression","obsolete":false,"parents":["HP:0430091"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of the presence of CD5 on the cell(s) of interest with the use of anti-CD5 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).","id":"HP:0430094","name":"CD5 expression","obsolete":false,"parents":["HP:0430091"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of the presence of CD10 on the cell(s) of interest with the use of anti-CD10 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).","id":"HP:0430095","name":"CD10 expression","obsolete":false,"parents":["HP:0430091"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of the presence of CD23 on the cell(s) of interest with the use of anti-CD23 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).","id":"HP:0430096","name":"CD23 expression","obsolete":false,"parents":["HP:0430091"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of the presence of CD38 on the cell(s) of interest with the use of anti-CD38 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).","id":"HP:0430097","name":"CD38 expression","obsolete":false,"parents":["HP:0430091"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of the presence of CD45 on the cell(s) of interest with the use of anti-CD45 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).","id":"HP:0430098","name":"CD45 expression","obsolete":false,"parents":["HP:0430091"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of the presence of cyclin D1 on the cell(s) of interest with the use of anti-cyclin D1 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).","id":"HP:0430099","name":"Cyclin D1 expression","obsolete":false,"parents":["HP:0430091"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of the presence of FMC7 on the cell(s) of interest with the use of anti-FMC7 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).","id":"HP:0430100","name":"FMC7 expression","obsolete":false,"parents":["HP:0430091"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of the presence of CD19 on the cell(s) of interest with the use of anti-CD19 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).","id":"HP:0430101","name":"CD19 expression","obsolete":false,"parents":["HP:0430091"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of the presence of CD20 on the cell(s) of interest with the use of anti-CD20 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).","id":"HP:0430102","name":"CD20 expression","obsolete":false,"parents":["HP:0430091"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"information about the patient's previous surgical treatments that might be relevant to the presenting illness or to provide optimal clinical management.","id":"HP:0430103","name":"Past surgical history","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural abnormality of a superficial temporal artery, originating from the external carotid artery and passing over the zygomatic process. The superficial temporal artery is located on the superficial parts of the forehead and sides of the head and face.","id":"HP:0430104","name":"Abnormal superficial temporal artery morphology","obsolete":false,"parents":["HP:0011004"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Patchy inflammation of the superficial temporal artery, forming isolated foci of arteritis.","id":"HP:0430105","name":"Skip lesions on temporal artery biopsy","obsolete":false,"parents":["HP:0430104"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly of brain-evoked potentials, defined as potentials generated by exteroceptive stimuli reflect synchronized activity by neuronal and axonal groups in the central nervous system (CNS) resulting from the arrival of nerve impulses after stimulation of a peripheral nerve or its receptors. Depending on the type of stimulus, evoked potentials are categorized as visual (VEP), auditory (AEP), or somatosensory (SSEP). Motor evoked potentials (MEP) occur when the brain's motor area is stimulated. They result from the activation of a sufficient number of motor units.","id":"HP:0430106","name":"Abnormal brain-evoked potentials","obsolete":false,"parents":["HP:0030178"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of an infectious agent in the sputum, as characterized by sputum culture or other investigation.","id":"HP:0430107","name":"Sputum infectious agent","obsolete":false,"parents":["HP:0430151"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Growth of mycobacterium avium in a sputum culture.","id":"HP:0430108","name":"Positive Mycobacterium avium sputum culture","obsolete":false,"parents":["HP:0430107"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A test result demonstrating the presence of an antigen (marker such as a protein against which an antibody reacts) specific to an infectious agent.","id":"HP:0430109","name":"Positive bloodstream infectious agent antigen test","obsolete":false,"parents":["HP:0430150"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Demonstration of an antigen specific to Cysticercosis in the bloodstream.","id":"HP:0430110","name":"Positive bloodstream Cysticercosis antigen test","obsolete":false,"parents":["HP:0430109"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Involuntary attacks of compulsive paroxysmal shouting. The shouting behaviors may be extremely loud and not related to the ongoing mental state of the affected individual. Shouting episodes may occur in bouts and last for several hours.","id":"HP:0430111","name":"Klazomania","obsolete":false,"parents":["HP:4000074"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Coprolalia denotes the involuntary utterance of obscenities. Intent is an important classifier in coprolalic behaviors, and unfortunately it remains unclear how to objectively distinguish coprolalia from common swearing.","id":"HP:0430112","name":"Coprolalia","obsolete":false,"parents":["HP:4000074"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Continuous groaning, moaning, grunting, and shrieking.","id":"HP:0430113","name":"Continuous involuntary vocalizations","obsolete":false,"parents":["HP:4000074"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Congenital absence or underdevelopment of the uterine cervix.","id":"HP:0430114","name":"Aplasia/hypoplasia of the uterine cervix","obsolete":false,"parents":["HP:0012888"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of the uterine cervix.","id":"HP:0430115","name":"Cervical hypoplasia","obsolete":false,"parents":["HP:0430114"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A serous papillary adenocarcinoma that arises from the lining of the peritoneum","id":"HP:0430116","name":"Primary peritoneal serous papillary adenocarcinoma","obsolete":false,"parents":["HP:0034930"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any kind of test for an infectious agent in skin positive.","id":"HP:0430117","name":"Positive skin infectious agent test","obsolete":false,"parents":["HP:0430030"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A test for fungus, e.g., fungal hyphae, in a skin specimen (usually a skin scraping), demonstrates the presence of fungi. Most commonly, a skin scraping is obtained using a small scalpel blade, the specimen is placed on a clean glass slide, a drop of potassium hydroxide (KOH) is added, and the specimen is examined microscopically for fungal structures such as hyphae or yeast.","id":"HP:0430118","name":"Positive skin fungus test","obsolete":false,"parents":["HP:0430117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive KOH test for fungi"}]} +{"alt_ids":[],"definition":"Count of eosinophils in nasal secretions (for instance, nasal discharge) above the upper limit of normal.","id":"HP:0430119","name":"Nasal secretion eosinophilia","obsolete":false,"parents":["HP:0031416"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eosinophils predominate in nasal discharge"}]} +{"alt_ids":[],"definition":"Count of neutrophils in nasal secretions (for instance, nasal discharge) above the upper limit of normal.","id":"HP:0430120","name":"Nasal secretion neutrophilia","obsolete":false,"parents":["HP:0031416"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect characterized by congenital absence of the seminal vesicle.","id":"HP:0430121","name":"Seminal vesicle agenesis","obsolete":false,"parents":["HP:6000190"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent seminal vesicles"}]} +{"alt_ids":[],"definition":"In a patient with nystagmus, The examiner briskly rotates the head of the patient while having the patient fixate on a target. A corrective saccade indicates the patient's eye will move in one direction and quickly return back to neutral position.","id":"HP:0430122","name":"Head impulse test has corrective saccade","obsolete":false,"parents":["HP:0007670"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any kind of test for an infectious agent in the cerebrospinal fluid (CSF) positive.","id":"HP:0430123","name":"Positive CSF infectious agent test","obsolete":false,"parents":["HP:0430030"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of Toxoplasma gondii nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction.","id":"HP:0430124","name":"Positive CSF toxoplasma gondii nucleic acid test","obsolete":false,"parents":["HP:0430140"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive CSF toxoplasma gondii PCR"}]} +{"alt_ids":[],"definition":"The activity or concentration of plasminogen activator inhibitor-1 in the blood circulation is above the upper limit of normal.","id":"HP:0430125","name":"Elevated circulating plasminogen activator inhibitor 1 activity","obsolete":false,"parents":["HP:0430126"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The activity or concentration of plasminogen activator inhibitor-1 in the blood circulation is outside of the limits of the normal range.","id":"HP:0430126","name":"Abnormal circulating plasminogen activator inhibitor 1 activity","obsolete":false,"parents":["HP:0040224"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The pattern by which a phenotype is localized to or predominant in a part of the brain.","id":"HP:0430127","name":"Brain localization","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Localization to or predominance in the frontal cortex of the brain.","id":"HP:0430128","name":"Frontal cortical localization","obsolete":false,"parents":["HP:0430127"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Localization to or predominance in the parts of the brain within the posterior fossa.","id":"HP:0430129","name":"Posterior fossa localization","obsolete":false,"parents":["HP:0430127"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Localization to or predominance in the subcortical region of the brain.","id":"HP:0430130","name":"Subcortical localization","obsolete":false,"parents":["HP:0430127"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Localization to or predominance in the parietal cortex of the brain.","id":"HP:0430131","name":"Parietal cortex localization","obsolete":false,"parents":["HP:0430127"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Localization to or predominance in the occipital cortex of the brain.","id":"HP:0430132","name":"Occipital cortex localization","obsolete":false,"parents":["HP:0430127"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of use of tobacco products such as cigarettes.","id":"HP:0430133","name":"Tobacco use history","obsolete":false,"parents":["HP:4000110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A fluid-filled sac near the vaginal opening. A Bartholin cyst is usually unilateral, asymptomatic blockage of the Bartholin gland, which may lead to a painless swelling.","id":"HP:0430134","name":"Bartholin cyst","obsolete":false,"parents":["HP:0012881"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bartholin duct cyst"},{"scope":"EXACT","text":"Vulvar cyst"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration in the blood circulation of alanine aminotransferase or aspartate aminotransferase.","id":"HP:0430135","name":"Abnormal circulating hepatic transaminase concentration","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal circulating hepatic transaminase activity"}]} +{"alt_ids":[],"definition":"The concentration of aspartate aminotransferase (AST) in the blood circulation is below the lower limit of normal.","id":"HP:0430136","name":"Reduced circulating aspartate aminotransferase concentration","obsolete":false,"parents":["HP:0430135"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of succinic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:0430137","name":"Elevated urine succinic acid level","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Succinic acid high in urine"}]} +{"alt_ids":[],"definition":"Detection of Varicella zoster virus nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction.","id":"HP:0430138","name":"Positive CSF varicella zoster virus nucleic acid test","obsolete":false,"parents":["HP:0430140"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive CSF varicella zoster virus PCR"},{"scope":"EXACT","text":"Varicella zoster virus PCR in CSF positive"}]} +{"alt_ids":[],"definition":"Positive serology in the cerebrospinal fluid (CSF) for a exposure to an infectious agent (i.e., examining CSF for the presence of pathogen-specific antibodies).","id":"HP:0430139","name":"CSF pathogen-specific antibody positivity","obsolete":false,"parents":["HP:0430123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Positive (abnormal) result of a cerebrospinal fluid (CSF) test such as polymerase chain reaction that is targeted against a nucleic acid sequence specific for a pathogen.","id":"HP:0430140","name":"Positive CSF nucleic acid pathogen test","obsolete":false,"parents":["HP:0430123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the cerebrospinal fluid (CSF) that react against a component of varicella zoster virus.","id":"HP:0430141","name":"CSF varicella zoster antibody positivity","obsolete":false,"parents":["HP:0430139"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-VZV IgG antibodies in CSF"}]} +{"alt_ids":[],"definition":"The concentration of interleukin-6 in the blood circulation is below the lower limit of normal.","id":"HP:0430142","name":"Reduced circulating interleukin 6 concentration","obsolete":false,"parents":["HP:6000441"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"IL-6 low in blood"}]} +{"alt_ids":[],"definition":"Concentration of C12 acylcarnitines in the blood circulation above the upper limit of normal. C12 acylcarnitines have a twelve-carbon acyl chain.","id":"HP:0430143","name":"Elevated circulating C12 acylcarnitine concentration","obsolete":false,"parents":["HP:0035017"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased activity of the frontalis muscle, causing a characteristic staring and astonished facial expression.","id":"HP:0430144","name":"Frontalis muscle overactivity","obsolete":false,"parents":["HP:3000004"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An ectodermal inclusion cyst containing skin and skin appendages; sebaceous glands, hair follicles, and occasionally sweat glands.","id":"HP:0430145","name":"Nasal dermoid cyst","obsolete":false,"parents":["HP:0005105"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of the complement component C3 in the blood circulation above the upper limit of normal.","id":"HP:0430146","name":"Elevated circulating complement C3 concentration","obsolete":false,"parents":["HP:6000474"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of inhibin B in the blood circulation is outside the limits of normal.","id":"HP:0430147","name":"Abnormal circulating inhibin B concentration","obsolete":false,"parents":["HP:0031099"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of lipoprotein(a) in the blood circulation is outside the limits of normal.","id":"HP:0430148","name":"Abnormal circulating lipoprotein(a) concentration","obsolete":false,"parents":["HP:0010980"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any kind of test for an infectious agent in the blood circulation positive.","id":"HP:0430150","name":"Positive blood infectious agent test","obsolete":false,"parents":["HP:0430030"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any kind of test for an infectious agent in the respiratory tract positive.","id":"HP:0430151","name":"Positive respiratory tract infectious agent test","obsolete":false,"parents":["HP:0430030"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A perceived unpleasant smell given off by the body.","id":"HP:0500001","name":"Body odor","obsolete":false,"parents":["HP:0025142"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"BO"},{"scope":"EXACT","text":"Body odor"},{"scope":"EXACT","text":"Bromhidrosis"},{"scope":"EXACT","text":"Bromidrosis"},{"scope":"EXACT","text":"Osmidrosis"}]} +{"alt_ids":[],"definition":"Pain in and around the anus or rectum (perianal region).","id":"HP:0500005","name":"Anal pain","obsolete":false,"parents":["HP:0012531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anal pain"},{"scope":"EXACT","text":"Anorectal pain"},{"scope":"EXACT","text":"Proctalgia"},{"scope":"EXACT","text":"Rectal pain"}]} +{"alt_ids":[],"definition":"Inflammation of the urethra.","id":"HP:0500006","name":"Urethritis","obsolete":false,"parents":["HP:0000795"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris.","id":"HP:0500007","name":"Iris flocculi","obsolete":false,"parents":["HP:0000525"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea.","id":"HP:0500008","name":"Cornea verticillata","obsolete":false,"parents":["HP:0000481"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vortex keratopathy"}]} +{"alt_ids":[],"definition":"It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum.","id":"HP:0500009","name":"Dysplastic gangliocytoma of the cerebellum","obsolete":false,"parents":["HP:0001317"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"LDD"},{"scope":"RELATED","text":"Lhermitte-Duclos disease"}]} +{"alt_ids":[],"definition":null,"id":"HP:0500010","name":"obsolete Increased cholesterol esters","obsolete":true,"parents":[],"replaced_by":["HP:0031211"],"synonyms":[]} +{"alt_ids":[],"definition":"A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin.","id":"HP:0500011","name":"Moon facies","obsolete":false,"parents":["HP:0001999"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Moon face"},{"scope":"EXACT","text":"Puffy face"},{"scope":"EXACT","text":"Puffy facies"}]} +{"alt_ids":[],"definition":"A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone (GnRH). Intermittent GnRH secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH).","id":"HP:0500012","name":"Abnormal gonadotropin-releasing hormone concentration","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of GnRH level"},{"scope":"EXACT","text":"Abnormality of gonadotropin-releasing hormone level"}]} +{"alt_ids":[],"definition":"Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion.","id":"HP:0500013","name":"Lack of gonadotropin-releasing hormone pulsatility","obsolete":false,"parents":["HP:0500012"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of GnRH pulsatility"}]} +{"alt_ids":[],"definition":null,"id":"HP:0500014","name":"obsolete Abnormal test result","obsolete":true,"parents":[],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal test result of cardiovascular physiology.","id":"HP:0500015","name":"Abnormal cardiac test","obsolete":false,"parents":["HP:0001626"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal results of a MRI for the heart.","id":"HP:0500016","name":"Abnormal cardiac MRI","obsolete":false,"parents":["HP:0500015"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal cardiac magnetic resonance imaging"},{"scope":"EXACT","text":"Abnormal heart MRI"}]} +{"alt_ids":[],"definition":"Abnormal results from the diagnostic tests resulting from cardiac catheterization.","id":"HP:0500017","name":"Abnormal cardiac catheterization","obsolete":false,"parents":["HP:0500015"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal cardiac cath"}]} +{"alt_ids":[],"definition":"Abnormal results of exercise on heart function.","id":"HP:0500018","name":"Abnormal cardiac exercise stress test","obsolete":false,"parents":["HP:0500015"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal cardiac exercise test"},{"scope":"BROAD","text":"Abnormal exercise test"},{"scope":"EXACT","text":"Abnormal treadmill test"}]} +{"alt_ids":[],"definition":"Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2).","id":"HP:0500019","name":"Abnormal resting energy expenditure from metabolic cart test","obsolete":false,"parents":["HP:0500015"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal metabolic cart test"}]} +{"alt_ids":[],"definition":"Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes.","id":"HP:0500020","name":"Abnormal cardiac biomarker test","obsolete":false,"parents":["HP:0500015"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS).","id":"HP:0500021","name":"Reduced brain gamma-aminobutyric acid level by MRS","obsolete":false,"parents":["HP:0012705"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from the normal concentration of dehydroepiandrosterone in the circulation.","id":"HP:0500022","name":"Abnormal circulating dehydroepiandrosterone concentration","obsolete":false,"parents":["HP:0030347"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal serum DHEA"},{"scope":"EXACT","text":"Abnormal serum androstenolone level"},{"scope":"EXACT","text":"Abnormal serum dehydroepiandrosterone level"}]} +{"alt_ids":[],"definition":"Absence of shoulder muscles.","id":"HP:0500023","name":"Shoulder muscle aplasia","obsolete":false,"parents":["HP:0001464"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent shoulder muscle"}]} +{"alt_ids":[],"definition":"Absence of the musculature of the pelvis.","id":"HP:0500024","name":"Aplasia of the musculature of the pelvis","obsolete":false,"parents":["HP:0001471"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of the musculature of the pelvis.","id":"HP:0500026","name":"Hypoplasia of the musculature of the pelvis","obsolete":false,"parents":["HP:0001471"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Congenital absence of the colon","id":"HP:0500027","name":"Aplastic colon","obsolete":false,"parents":["HP:0100811"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absence of the colon"},{"scope":"EXACT","text":"Aplasia of the colon"}]} +{"alt_ids":[],"definition":"Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes.","id":"HP:0500028","name":"Cotton wool plaques","obsolete":false,"parents":["HP:0100256"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CWPs"}]} +{"alt_ids":[],"definition":"Change in normal glycogen storage content.","id":"HP:0500030","name":"Abnormal hepatic glycogen storage","obsolete":false,"parents":["HP:0031137"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevation in bone density in one or more carpal bones of the hand.","id":"HP:0500031","name":"Sclerosis of the carpal bones","obsolete":false,"parents":["HP:0004054"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormality of the structure and branching of the dendrites of a neuron.","id":"HP:0500032","name":"Abnormal neuron branching","obsolete":false,"parents":["HP:0012757"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aberrant neuronal branching"},{"scope":"EXACT","text":"Abnormal neuronal branching"}]} +{"alt_ids":[],"definition":"Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells.","id":"HP:0500033","name":"Abnormal natural killer subset distribution","obsolete":false,"parents":["HP:0012176"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Blockage of the nasolacrimal sac.","id":"HP:0500034","name":"Nasolacrimal sac obstruction","obsolete":false,"parents":["HP:3000066"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac.","id":"HP:0500035","name":"Nasolacrimal sac granuloma","obsolete":false,"parents":["HP:0500034"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Benign tumor of the nasolacrimal sac.","id":"HP:0500036","name":"Nasolacrimal sac papilloma","obsolete":false,"parents":["HP:0500035"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac.","id":"HP:0500037","name":"Nasolacrimal sac epithelial papillary carcinoma","obsolete":false,"parents":["HP:3000066"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring.","id":"HP:0500039","name":"Conjunctival cicatrization","obsolete":false,"parents":["HP:0030947"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cicatricial conjunctivitis"},{"scope":"EXACT","text":"Cicatrizating conjunctivitis"},{"scope":"EXACT","text":"Conjunctival cicatricial conjunctivitis"}]} +{"alt_ids":[],"definition":"A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix.","id":"HP:0500040","name":"Dermolipoma of the conjunctiva","obsolete":false,"parents":["HP:0500039"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Conjunctival lipodermoid"}]} +{"alt_ids":[],"definition":"A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest.","id":"HP:0500041","name":"Myopic astigmatism","obsolete":false,"parents":["HP:0000483"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye.","id":"HP:0500042","name":"Latent hypermetropia","obsolete":false,"parents":["HP:0008499"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Latent hyperopia"}]} +{"alt_ids":[],"definition":"With the eyes in primary position, the sclera is visible above the superior corneal limbus.","id":"HP:0500043","name":"Eyelid retraction","obsolete":false,"parents":["HP:0000492"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevation of the eyelid above the normal level in the primary position.","id":"HP:0500044","name":"Upper eyelid retraction","obsolete":false,"parents":["HP:0500043"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A unilateral or bilateral eyelid retraction due to midbrain lesions.","id":"HP:0500045","name":"Collier's sign","obsolete":false,"parents":["HP:0500044"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the eyelid due to overactivity of the sebaceous gland.","id":"HP:0500046","name":"Seborrhoeic blepharitis","obsolete":false,"parents":["HP:0025610"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of lymphoma that involves the nasolacrimal sac.","id":"HP:0500047","name":"Nasolacrimal sac lymphoma","obsolete":false,"parents":["HP:3000066"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period.","id":"HP:0500048","name":"Delayed canalization of nasolacrimal duct","obsolete":false,"parents":["HP:0000579"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness.","id":"HP:0500049","name":"Retinopathy of prematurity","obsolete":false,"parents":["HP:0000488"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina.","id":"HP:0500050","name":"Retinopathy of prematurity stage 1","obsolete":false,"parents":["HP:0500049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ROP stage 1"}]} +{"alt_ids":[],"definition":"The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous.","id":"HP:0500051","name":"Retinopathy of prematurity stage 2","obsolete":false,"parents":["HP:0500049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ROP stage 2"}]} +{"alt_ids":[],"definition":"The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina.","id":"HP:0500052","name":"Retinopathy of prematurity stage 3","obsolete":false,"parents":["HP:0500049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ROP stage 3"}]} +{"alt_ids":[],"definition":"Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment.","id":"HP:0500053","name":"Retinopathy of prematurity stage 4","obsolete":false,"parents":["HP:0500049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ROP stage 4"}]} +{"alt_ids":[],"definition":"A detachment that involves the peripheral retina that does not extend into the macula.","id":"HP:0500054","name":"Retinopathy of prematurity stage 4a","obsolete":false,"parents":["HP:0500053"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ROP stage 4a"}]} +{"alt_ids":[],"definition":"A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well.","id":"HP:0500055","name":"Retinopathy of prematurity stage 4b","obsolete":false,"parents":["HP:0500053"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ROP 4b"}]} +{"alt_ids":[],"definition":"Funnel detachment from the retina with generally traction in all four quadrants.","id":"HP:0500056","name":"Retinopathy of prematurity stage 5","obsolete":false,"parents":["HP:0500049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ROP stage 5"}]} +{"alt_ids":[],"definition":"An open funnel detachment of the retina with generally traction in all four quadrants.","id":"HP:0500057","name":"Retinopathy of prematurity stage 5a","obsolete":false,"parents":["HP:0500056"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ROP stage 5a"}]} +{"alt_ids":[],"definition":"A closed funnel detachment of the retina with generally traction in all four quadrants.","id":"HP:0500058","name":"Retinopathy of prematurity stage 5b","obsolete":false,"parents":["HP:0500056"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ROP stage 5b"}]} +{"alt_ids":[],"definition":"Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula.","id":"HP:0500059","name":"Retinopathy of prematurity zone I","obsolete":false,"parents":["HP:0500049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ROP zone 1"}]} +{"alt_ids":[],"definition":"Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata.","id":"HP:0500060","name":"Retinopathy of prematurity zone II","obsolete":false,"parents":["HP:0500049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ROP zone II"}]} +{"alt_ids":[],"definition":"Retinopathy which is a residual crescent of retina anterior to zone II.","id":"HP:0500061","name":"Retinopathy of prematurity zone III","obsolete":false,"parents":["HP:0500049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ROP zone III"}]} +{"alt_ids":[],"definition":"Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye.","id":"HP:0500062","name":"Retinopathy of prematurity plus","obsolete":false,"parents":["HP:0500049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ROP plus"}]} +{"alt_ids":[],"definition":"As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal.","id":"HP:0500063","name":"Retinopathy of prematurity pre-plus","obsolete":false,"parents":["HP:0500049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ROP pre-plus"}]} +{"alt_ids":[],"definition":"A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease.","id":"HP:0500064","name":"Retinopathy of prematurity threshold","obsolete":false,"parents":["HP:0500049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ROP threshold"}]} +{"alt_ids":[],"definition":"High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both.","id":"HP:0500065","name":"Retinopathy of prematurity prethreshold","obsolete":false,"parents":["HP:0500049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ROP prethreshold"}]} +{"alt_ids":[],"definition":"The difference between total and manifest myopia.","id":"HP:0500066","name":"Latent myopia","obsolete":false,"parents":["HP:0000545"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy.","id":"HP:0500069","name":"Paralytic ectropion","obsolete":false,"parents":["HP:0000656"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimeters posterior to the limbus.","id":"HP:0500070","name":"Conjunctival dermolipoma","obsolete":false,"parents":["HP:0000502"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation.","id":"HP:0500072","name":"Absolute eccentric fixation","obsolete":false,"parents":["HP:0025549"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal ocular alignment.","id":"HP:0500073","name":"Abnormal ocular alignment","obsolete":false,"parents":["HP:0000496"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering.","id":"HP:0500074","name":"Dissociated vertical deviation","obsolete":false,"parents":["HP:0500073"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes.","id":"HP:0500075","name":"Dissociated horizontal deviation","obsolete":false,"parents":["HP:0500073"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards.","id":"HP:0500076","name":"Alternating hypertropia","obsolete":false,"parents":["HP:0025586"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards.","id":"HP:0500077","name":"Alternating hyperphoria","obsolete":false,"parents":["HP:0025585"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards.","id":"HP:0500078","name":"Alternating hypotropia","obsolete":false,"parents":["HP:0025584"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards.","id":"HP:0500079","name":"Alternating hypophoria","obsolete":false,"parents":["HP:0031725"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL).","id":"HP:0500081","name":"Pseudophakia","obsolete":false,"parents":["HP:0000517"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Having a characteristic appearance of a slate gray area of pigmentation within the disk margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas.","id":"HP:0500086","name":"Optic nerve gray crescent","obsolete":false,"parents":["HP:0012511"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Optic nerve grey crescent"},{"scope":"EXACT","text":"Temporal gray pigmentary crescent"},{"scope":"EXACT","text":"Temporal grey pigmentary crescent"}]} +{"alt_ids":[],"definition":"Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.","id":"HP:0500087","name":"Peripapillary atrophy","obsolete":false,"parents":["HP:0012512"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:0500088","name":"obsolete Foveal depigmentation","obsolete":true,"parents":[],"replaced_by":["HP:0012643"],"synonyms":[]} +{"alt_ids":[],"definition":"A benign tumor of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2.","id":"HP:0500089","name":"Optic nerve sheath meningioma","obsolete":false,"parents":["HP:0002858"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A capillary hemangioma surrounding the eyeball but within the orbit.","id":"HP:0500090","name":"Periocular capillary hemangioma","obsolete":false,"parents":["HP:0005306"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Peri-ocular capillary hemangioma"}]} +{"alt_ids":[],"definition":"A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva maneuver. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to hemorrhage.","id":"HP:0500091","name":"Lymphangioma of the orbit","obsolete":false,"parents":["HP:0030670","HP:0100764"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A mesenchymal tumor that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit.","id":"HP:0500092","name":"Orbital rhabdomyosarcoma","obsolete":false,"parents":["HP:0002859"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods.","id":"HP:0500093","name":"Food allergy","obsolete":false,"parents":["HP:0012393"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Allergic reaction to foods"},{"scope":"EXACT","text":"Food allergy"},{"scope":"EXACT","text":"IgE-mediated food allergy"},{"scope":"EXACT","text":"Immunoglobulin E-mediated food allergy"},{"scope":"EXACT","text":"Reaction to food allergens"}]} +{"alt_ids":[],"definition":"Latex allergy is an IgE-mediated immediate hypersensitivity response to natural rubber latex (NRL) protein with a variety of clinical signs ranging from contact urticaria, angioedema, asthma, and anaphylaxis.","id":"HP:0500094","name":"Latex allergy","obsolete":false,"parents":["HP:0012393"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food.","id":"HP:0500095","name":"Food-induced anaphylaxis","obsolete":false,"parents":["HP:0100845"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of anaphylaxis that is triggered by exposure to venom.","id":"HP:0500096","name":"Venom-induced anaphylaxis","obsolete":false,"parents":["HP:0100845"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of xenobiotic in stool.","id":"HP:0500097","name":"Stool xenobiotic","obsolete":false,"parents":["HP:0031838"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of a xenobiotic in meconium.","id":"HP:0500098","name":"Meconium xenobiotic","obsolete":false,"parents":["HP:0500097"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of xenobiotic in hair.","id":"HP:0500099","name":"Hair xenobiotic","obsolete":false,"parents":["HP:0031838"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of a xenobiotic in plasma and/or serum.","id":"HP:0500100","name":"Plasma/serum xenobiotic","obsolete":false,"parents":["HP:0410172"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of a xenobiotic in gastric fluid.","id":"HP:0500101","name":"Gastric fluid xenobiotic","obsolete":false,"parents":["HP:0031838"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal decrease in diastolic blood pressure.","id":"HP:0500104","name":"Decreased diastolic blood pressure","obsolete":false,"parents":["HP:0002615"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased diastolic BP"},{"scope":"EXACT","text":"Reduced diastolic blood pressure"}]} +{"alt_ids":[],"definition":"Abnormal decrease in systolic blood pressure.","id":"HP:0500105","name":"Decreased systolic blood pressure","obsolete":false,"parents":["HP:0002615"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased systolic BP"},{"scope":"EXACT","text":"Reduced systolic blood pressure"}]} +{"alt_ids":[],"definition":"Elevated systolic blood pressure without an elevated blood pressure.","id":"HP:0500106","name":"Isolated systolic hypertension","obsolete":false,"parents":["HP:0004421"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg).","id":"HP:0500107","name":"Isolated diastolic hypotension","obsolete":false,"parents":["HP:0500104"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of cocaine or its major metabolite, benzoylecgonine, in urine.","id":"HP:0500108","name":"Positive urine cocaine test","obsolete":false,"parents":["HP:0031840"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of barbiturate metabolites such as Phenobarbital in urine.","id":"HP:0500109","name":"Positive urine barbiturate test","obsolete":false,"parents":["HP:0031840"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine.","id":"HP:0500110","name":"Positive urine cannabinoid test","obsolete":false,"parents":["HP:0031840"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive urine marijuana test"},{"scope":"EXACT","text":"Positive urine pot test"}]} +{"alt_ids":[],"definition":"Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine.","id":"HP:0500111","name":"Positive urine benzodiazepines test","obsolete":false,"parents":["HP:0031840"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of amphetamine or its metabolites in urine.","id":"HP:0500112","name":"Positive urine amphetamine test","obsolete":false,"parents":["HP:0031840"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of opioids or opioid metabolites in urine.","id":"HP:0500113","name":"Positive urine opioid test","obsolete":false,"parents":["HP:0031840"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal concentration of urobilinogen present in the stool.","id":"HP:0500114","name":"Abnormal stool urobilinogen concentration","obsolete":false,"parents":["HP:0031685"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased amount of urobilinogen present in the stool.","id":"HP:0500115","name":"Increased stool urobilinogen concentration","obsolete":false,"parents":["HP:0500114"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of barbiturate metabolites such as Phenobarbital in blood.","id":"HP:0500116","name":"Positive blood barbiturate test","obsolete":false,"parents":["HP:0410172"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal concentration of urate in the cerebrospinal fluid (CSF).","id":"HP:0500117","name":"Abnormal CSF urate concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of valine in the blood circulation is below the lower limit of normal.","id":"HP:0500132","name":"Hypovalinemia","obsolete":false,"parents":["HP:0010914"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased valine concentration"},{"scope":"EXACT","text":"Decreased valine level"},{"scope":"EXACT","text":"Decreased valine level in blood"},{"scope":"EXACT","text":"Low blood valine concentration"},{"scope":"EXACT","text":"Reduced valine concentration"},{"scope":"EXACT","text":"Reduced valine level"},{"scope":"EXACT","text":"Reduced valine level in blood"}]} +{"alt_ids":[],"definition":"The concentration of tyrosine in the blood circulation is below the lower limit of normal.","id":"HP:0500133","name":"Hypotyrosinemia","obsolete":false,"parents":["HP:0010917"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased tyrosine concentration"},{"scope":"EXACT","text":"Decreased tyrosine in blood"},{"scope":"EXACT","text":"Decreased tyrosine level"},{"scope":"EXACT","text":"Decreased tyrosine level in blood"},{"scope":"EXACT","text":"Low blood tyrosine concentration"},{"scope":"EXACT","text":"Reduced tyrosine concentration"},{"scope":"EXACT","text":"Reduced tyrosine level"},{"scope":"EXACT","text":"Reduced tyrosine level in blood"}]} +{"alt_ids":[],"definition":"The concentration of tryptophan in the blood circulation is above the upper limit of normal.","id":"HP:0500134","name":"Hypertryptophanemia","obsolete":false,"parents":["HP:0004365"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated tryptophan concentration"},{"scope":"EXACT","text":"Elevated tryptophan level"},{"scope":"EXACT","text":"Elevated tryptophan level in blood"},{"scope":"EXACT","text":"High blood tryptophan concentration"},{"scope":"EXACT","text":"Increased tryptophan concentration"},{"scope":"EXACT","text":"Increased tryptophan in blood"},{"scope":"EXACT","text":"Increased tryptophan level"},{"scope":"EXACT","text":"Increased tryptophan level in blood"}]} +{"alt_ids":[],"definition":"The concentration of tryptophan in the blood circulation is below the lower limit of normal.","id":"HP:0500135","name":"Hypotryptophanemia","obsolete":false,"parents":["HP:0004365"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased tryptophan concentration"},{"scope":"EXACT","text":"Decreased tryptophan in blood"},{"scope":"EXACT","text":"Decreased tryptophan level"},{"scope":"EXACT","text":"Decreased tryptophan level in blood"},{"scope":"EXACT","text":"Low blood tryptophan concentration"},{"scope":"EXACT","text":"Reduced tryptophan concentration"},{"scope":"EXACT","text":"Reduced tryptophan level"},{"scope":"EXACT","text":"Reduced tryptophan level in blood"}]} +{"alt_ids":[],"definition":"The concentration of threonine in the blood circulation is below the lower limit of normal.","id":"HP:0500136","name":"Hypothreoninemia","obsolete":false,"parents":["HP:0010900"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating threonine levels"},{"scope":"EXACT","text":"Decreased threonine blood levels"},{"scope":"EXACT","text":"Decreased threonine concentration"},{"scope":"EXACT","text":"Decreased threonine level"},{"scope":"EXACT","text":"Decreased threonine level in blood"},{"scope":"EXACT","text":"Low blood threonine concentration"},{"scope":"EXACT","text":"Reduced threonine concentration"},{"scope":"EXACT","text":"Reduced threonine level"},{"scope":"EXACT","text":"Reduced threonine level in blood"}]} +{"alt_ids":[],"definition":"The concentration of serine in the blood circulation is above the upper limit of normal.","id":"HP:0500138","name":"Hyperserinemia","obsolete":false,"parents":["HP:0012278"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating serine levels"},{"scope":"EXACT","text":"Elevated serine concentration"},{"scope":"EXACT","text":"Elevated serine level"},{"scope":"EXACT","text":"Elevated serine level in blood"},{"scope":"EXACT","text":"High blood serine levels"},{"scope":"EXACT","text":"Increased serine blood concentration"},{"scope":"EXACT","text":"Increased serine concentration"},{"scope":"EXACT","text":"Increased serine level"},{"scope":"EXACT","text":"Increased serine level in blood"}]} +{"alt_ids":[],"definition":"The concentration of proline in the blood circulation is below the lower limit of normal.","id":"HP:0500139","name":"Hypoprolinemia","obsolete":false,"parents":["HP:0010907"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased blood proline levels"},{"scope":"EXACT","text":"Decreased proline concentration"},{"scope":"EXACT","text":"Decreased proline level"},{"scope":"EXACT","text":"Decreased proline level in blood"},{"scope":"EXACT","text":"Low blood proline concentration"},{"scope":"EXACT","text":"Reduced proline concentration"},{"scope":"EXACT","text":"Reduced proline level"},{"scope":"EXACT","text":"Reduced proline level in blood"}]} +{"alt_ids":[],"definition":"A decreased amount of hydroxyproline in the blood.","id":"HP:0500140","name":"Decreased circulating hydroxyproline concentration","obsolete":false,"parents":["HP:0010907"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased hydroxyproline in the blood"},{"scope":"EXACT","text":"Low level of hydroxyproline in the blood"}]} +{"alt_ids":[],"definition":"The concentration of phenylalanine in the blood circulation is below the lower limit of normal.","id":"HP:0500141","name":"Hypophenylalaninemia","obsolete":false,"parents":["HP:0010893"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased blood phenylalanine"},{"scope":"EXACT","text":"Decreased phenylalanine concentration"},{"scope":"EXACT","text":"Decreased phenylalanine level"},{"scope":"EXACT","text":"Decreased phenylalanine level in blood"},{"scope":"EXACT","text":"Low blood phenylalanine"},{"scope":"EXACT","text":"Reduced phenylalanine concentration"},{"scope":"EXACT","text":"Reduced phenylalanine level"},{"scope":"EXACT","text":"Reduced phenylalanine level in blood"}]} +{"alt_ids":[],"definition":"The concentration of lysine in the blood circulation is below the lower limit of normal.","id":"HP:0500142","name":"Hypolysinemia","obsolete":false,"parents":["HP:0010908"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased blood lysine"},{"scope":"EXACT","text":"Decreased lysine concentration"},{"scope":"EXACT","text":"Decreased lysine level"},{"scope":"EXACT","text":"Decreased lysine level in blood"},{"scope":"EXACT","text":"Low blood lysine levels"},{"scope":"EXACT","text":"Reduced lysine concentration"},{"scope":"EXACT","text":"Reduced lysine level"},{"scope":"EXACT","text":"Reduced lysine level in blood"}]} +{"alt_ids":[],"definition":"The concentration of leucine in the blood circulation is below the lower limit of normal.","id":"HP:0500143","name":"Hypoleucinemia","obsolete":false,"parents":["HP:0004357"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased blood concentration of leucine"},{"scope":"EXACT","text":"Decreased leucine concentration"},{"scope":"EXACT","text":"Decreased leucine level"},{"scope":"EXACT","text":"Decreased leucine level in blood"},{"scope":"EXACT","text":"Low blood leucine levels"},{"scope":"EXACT","text":"Reduced leucine concentration"},{"scope":"EXACT","text":"Reduced leucine level"},{"scope":"EXACT","text":"Reduced leucine level in blood"}]} +{"alt_ids":[],"definition":"The concentration of isoleucine in the blood circulation is below the lower limit of normal.","id":"HP:0500144","name":"Hypoisoleucinemia","obsolete":false,"parents":["HP:0010912"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased blood isoleucine concentration"},{"scope":"EXACT","text":"Decreased isoleucine concentration"},{"scope":"EXACT","text":"Decreased isoleucine level"},{"scope":"EXACT","text":"Decreased isoleucine level in blood"},{"scope":"EXACT","text":"Low blood isoleucine levels"},{"scope":"EXACT","text":"Reduced isoleucine concentration"},{"scope":"EXACT","text":"Reduced isoleucine level"},{"scope":"EXACT","text":"Reduced isoleucine level in blood"}]} +{"alt_ids":[],"definition":"The concentration of histidine in the blood circulation is below the lower limit of normal.","id":"HP:0500145","name":"Hypohistidinemia","obsolete":false,"parents":["HP:0010904"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased blood histidine concentration"},{"scope":"EXACT","text":"Decreased histidine concentration"},{"scope":"EXACT","text":"Decreased histidine level"},{"scope":"EXACT","text":"Decreased histidine level in blood"},{"scope":"EXACT","text":"Low blood histidine levels"},{"scope":"EXACT","text":"Reduced histidine concentration"},{"scope":"EXACT","text":"Reduced histidine level"},{"scope":"EXACT","text":"Reduced histidine level in blood"}]} +{"alt_ids":[],"definition":"The concentration of glutamine in the blood circulation is below the lower limit of normal.","id":"HP:0500147","name":"Hypoglutaminemia","obsolete":false,"parents":["HP:0010903"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased blood glutamine concentration"},{"scope":"EXACT","text":"Decreased glutamine concentration"},{"scope":"EXACT","text":"Decreased glutamine level"},{"scope":"EXACT","text":"Decreased glutamine level in blood"},{"scope":"EXACT","text":"Low blood glutamine level"},{"scope":"EXACT","text":"Reduced glutamine concentration"},{"scope":"EXACT","text":"Reduced glutamine level"},{"scope":"EXACT","text":"Reduced glutamine level in blood"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of glutamate in the blood circulation.","id":"HP:0500148","name":"Abnormal circulating glutamate concentration","obsolete":false,"parents":["HP:0010902"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of glutamate metabolism"}]} +{"alt_ids":["HP:0410068"],"definition":"Concentration of glutamate in the blood circulation above the upper limit of normal.","id":"HP:0500149","name":"Hyperglutamatemia","obsolete":false,"parents":["HP:0500148"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High blood glutamate levels"},{"scope":"EXACT","text":"Increased blood glutamate concentration"},{"scope":"EXACT","text":"Increased level of L-glutamic acid in blood"}]} +{"alt_ids":[],"definition":"A decreased amount of glutamate in the blood.","id":"HP:0500150","name":"Hypoglutamatemia","obsolete":false,"parents":["HP:0500148"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased blood glutamate concentrations"},{"scope":"EXACT","text":"Low blood glutamate levels"}]} +{"alt_ids":[],"definition":"The concentration of cystine in the blood circulation is above the upper limit of normal.","id":"HP:0500151","name":"Hypercystinemia","obsolete":false,"parents":["HP:0010918"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated cystine concentration"},{"scope":"EXACT","text":"Elevated cystine level"},{"scope":"EXACT","text":"Elevated cystine level in blood"},{"scope":"EXACT","text":"High blood cystine levels"},{"scope":"EXACT","text":"Increased blood cystine concentration"},{"scope":"EXACT","text":"Increased cystine concentration"},{"scope":"EXACT","text":"Increased cystine level"},{"scope":"EXACT","text":"Increased cystine level in blood"}]} +{"alt_ids":[],"definition":"The concentration of cystine in the blood circulation is below the lower limit of normal.","id":"HP:0500152","name":"Hypocystinemia","obsolete":false,"parents":["HP:0010918"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased blood cystine concentration"},{"scope":"EXACT","text":"Decreased cystine concentration"},{"scope":"EXACT","text":"Decreased cystine level"},{"scope":"EXACT","text":"Decreased cystine level in blood"},{"scope":"EXACT","text":"Low blood cystine levels"},{"scope":"EXACT","text":"Reduced cystine concentration"},{"scope":"EXACT","text":"Reduced cystine level"},{"scope":"EXACT","text":"Reduced cystine level in blood"}]} +{"alt_ids":[],"definition":"An increased amount of arginine levels in the blood.","id":"HP:0500153","name":"Hyperargininemia","obsolete":false,"parents":["HP:0010909"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High blood arginine levels"},{"scope":"EXACT","text":"Increased blood arginine concentration"}]} +{"alt_ids":[],"definition":"A decreased amount of alanine in the blood.","id":"HP:0500154","name":"Hypoalaninemia","obsolete":false,"parents":["HP:0010916"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased blood alanine concentration"},{"scope":"EXACT","text":"Low blood alanine levels"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of asparagine in the blood circulation.","id":"HP:0500155","name":"Abnormal circulating asparagine concentration","obsolete":false,"parents":["HP:0010899"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal asparagine level"},{"scope":"EXACT","text":"Abnormality of asparagine metabolism"}]} +{"alt_ids":[],"definition":"The concentration of asparagine in the blood circulation is above the upper limit of normal.","id":"HP:0500156","name":"Hyperasparaginemia","obsolete":false,"parents":["HP:0500155"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated asparagine concentration"},{"scope":"EXACT","text":"Elevated asparagine level"},{"scope":"EXACT","text":"Elevated asparagine level in blood"},{"scope":"EXACT","text":"High blood asaparagine levels"},{"scope":"EXACT","text":"Increased asparagine concentration"},{"scope":"EXACT","text":"Increased asparagine level"},{"scope":"EXACT","text":"Increased asparagine level in blood"},{"scope":"EXACT","text":"Increased blood asparagine concentration"}]} +{"alt_ids":[],"definition":"The concentration of asparagine in the blood circulation is below the lower limit of normal.","id":"HP:0500157","name":"Hypoasparaginemia","obsolete":false,"parents":["HP:0500155"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased asparagine concentration"},{"scope":"EXACT","text":"Decreased asparagine level"},{"scope":"EXACT","text":"Decreased asparagine level in blood"},{"scope":"EXACT","text":"Decreased blood asparagine concentration"},{"scope":"EXACT","text":"Low blood asparagine levels"},{"scope":"EXACT","text":"Reduced asparagine concentration"},{"scope":"EXACT","text":"Reduced asparagine level"},{"scope":"EXACT","text":"Reduced asparagine level in blood"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of aspartic acid in the blood circulation.","id":"HP:0500158","name":"Abnormal circulating aspartic acid concentration","obsolete":false,"parents":["HP:0010899"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal aspartic acid level"},{"scope":"EXACT","text":"Abnormal circulating aspartate concentration"}]} +{"alt_ids":[],"definition":"The concentration of aspartic acid in the blood circulation is above the upper limit of normal.","id":"HP:0500159","name":"Elevated circulating aspartic acid concentration","obsolete":false,"parents":["HP:0500158"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated aspartic acid concentration"},{"scope":"EXACT","text":"Elevated aspartic acid level"},{"scope":"EXACT","text":"Elevated aspartic acid level in blood"},{"scope":"EXACT","text":"High blood aspartic acid levels"},{"scope":"EXACT","text":"Increased aspartic acid concentration"},{"scope":"EXACT","text":"Increased aspartic acid level"},{"scope":"EXACT","text":"Increased aspartic acid level in blood"},{"scope":"EXACT","text":"Increased blood aspartic acid"},{"scope":"EXACT","text":"Increased level of circulating aspartic acid"}]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of carnosine in the blood circulation.","id":"HP:0500160","name":"Abnormal circulating carnosine concentration","obsolete":false,"parents":["HP:0004354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of carnosine metabolism"}]} +{"alt_ids":[],"definition":"Concentration of carnosine in the blood circulation above normal limits.","id":"HP:0500161","name":"Increased circulating carnosine concentration","obsolete":false,"parents":["HP:0500160"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High blood carnosine 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ornithine level in blood"},{"scope":"EXACT","text":"Low blood ornithine levels"},{"scope":"EXACT","text":"Reduced ornithine concentration"},{"scope":"EXACT","text":"Reduced ornithine level"},{"scope":"EXACT","text":"Reduced ornithine level in blood"}]} +{"alt_ids":[],"definition":"An abnormality of carbon dioxide (CO2) in the arterial blood.","id":"HP:0500164","name":"Abnormal blood carbon dioxide level","obsolete":false,"parents":["HP:0012415"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal CO2 levels in blood"},{"scope":"EXACT","text":"Abnormal blood carbon dioxide level"}]} +{"alt_ids":[],"definition":"An abnormality of the partial pressure of oxygen in the arterial blood.","id":"HP:0500165","name":"Abnormal blood oxygen level","obsolete":false,"parents":["HP:0012415"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal O2 blood concentration"},{"scope":"EXACT","text":"Abnormal blood O2 level"},{"scope":"EXACT","text":"Abnormal blood oxygen levels"}]} 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These changes can involve the entire limb, face, neck and trunk.","id":"HP:0550003","name":"Proximal scleroderma","obsolete":false,"parents":["HP:0100324"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals.","id":"HP:0550004","name":"Verruca plana","obsolete":false,"parents":["HP:0200043"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flat wart"}]} +{"alt_ids":[],"definition":"It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis.","id":"HP:0550005","name":"Bilateral basilar pulmonary fibrosis","obsolete":false,"parents":["HP:0002206"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lung disease with systemic sclerosis"},{"scope":"EXACT","text":"Scleroderma lung disease"},{"scope":"EXACT","text":"Scleroderma of lung"}]} +{"alt_ids":[],"definition":null,"id":"HP:3000001","name":"obsolete Abnormal heart morphology","obsolete":true,"parents":[],"replaced_by":["HP:0001627"],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of an inner ear epithelium.","id":"HP:3000002","name":"Abnormal inner ear epithelium morphology","obsolete":false,"parents":["HP:0011390"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of a mandibular ramus.","id":"HP:3000003","name":"Abnormal mandibular ramus 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+{"alt_ids":[],"definition":"An abnormality of a palatopharyngeus muscle.","id":"HP:3000012","name":"Abnormality of palatopharyngeus muscle","obsolete":false,"parents":["HP:0430014","HP:0430015"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the platysma muscle.","id":"HP:3000013","name":"Abnormal platysma muscle morphology","obsolete":false,"parents":["HP:0000301","HP:0001574","HP:0011006"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of platysma"},{"scope":"EXACT","text":"Abnormality of the platysma muscle"}]} +{"alt_ids":[],"definition":"An abnormality of a procerus.","id":"HP:3000014","name":"Abnormality of procerus muscle","obsolete":false,"parents":["HP:0000366","HP:0430018"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of a risorius muscle.","id":"HP:3000015","name":"Abnormality of risorius muscle","obsolete":false,"parents":["HP:0004426","HP:0430019"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the styloglossus muscle.","id":"HP:3000016","name":"Abnormality of styloglossus muscle","obsolete":false,"parents":["HP:0040174"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of a temporalis muscle.","id":"HP:3000017","name":"Abnormality of temporalis muscle","obsolete":false,"parents":["HP:0410011"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of a zygomaticus major muscle.","id":"HP:3000018","name":"Abnormality of zygomaticus major muscle","obsolete":false,"parents":["HP:0004426","HP:0430019"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of a buccal mucosa.","id":"HP:3000019","name":"Abnormal buccal mucosa morphology","obsolete":false,"parents":["HP:0004426"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of buccal mucosa"},{"scope":"EXACT","text":"Abnormality of cheek mucosa"},{"scope":"EXACT","text":"Abnormality of inside lining of cheek"}]} +{"alt_ids":[],"definition":"An abnormality of a zygomaticus minor muscle.","id":"HP:3000020","name":"Abnormality of zygomaticus minor muscle","obsolete":false,"parents":["HP:0004426","HP:0430019"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of a buccal fat pad.","id":"HP:3000021","name":"Abnormal buccal fat pad morphology","obsolete":false,"parents":["HP:0004426"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of buccal fat pad"}]} +{"alt_ids":[],"definition":"An abnormality of a cartilage of external ear.","id":"HP:3000022","name":"Abnormal external ear cartilage morphology","obsolete":false,"parents":["HP:0000377","HP:0002763"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of cartilage of external ear"}]} +{"alt_ids":[],"definition":"An abnormality of the angular artery, the terminal branch of the facial artery.","id":"HP:3000023","name":"Abnormality of angular 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orbital bones of skull"}]} +{"alt_ids":[],"definition":"An abnormality of an anterior ethmoidal artery.","id":"HP:3000031","name":"Abnormality of anterior ethmoidal artery","obsolete":false,"parents":["HP:0410006"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of a central retinal artery.","id":"HP:3000032","name":"Abnormality of central retinal artery","obsolete":false,"parents":["HP:0410006"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality of nasopharyngeal adenoids.","id":"HP:3000033","name":"Abnormal nasopharyngeal adenoid morphology","obsolete":false,"parents":["HP:0001739","HP:0100765"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of adenoids"},{"scope":"EXACT","text":"Abnormality of nasopharyngeal adenoids"},{"scope":"EXACT","text":"Abnormality of nasopharyngeal tonsil"},{"scope":"EXACT","text":"Abnormality of pharyngeal tonsil"}]} +{"alt_ids":[],"definition":"An abnormality of a cartilage of nasal 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head.","id":"HP:3000036","name":"Abnormal head blood vessel morphology","obsolete":false,"parents":["HP:0000234","HP:0025015"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of blood vessel of head"},{"scope":"EXACT","text":"Abnormality of head blood vessel"},{"scope":"EXACT","text":"Abnormality of vasculature of head"}]} +{"alt_ids":[],"definition":"An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck.","id":"HP:3000037","name":"Abnormal neck blood vessel morphology","obsolete":false,"parents":["HP:0025015","HP:0025668"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of blood vessel of neck"},{"scope":"EXACT","text":"Abnormality of neck blood vessel"},{"scope":"EXACT","text":"Abnormality of the cervical blood vessels"},{"scope":"EXACT","text":"Abnormality of the cervical vasculature"},{"scope":"EXACT","text":"Abnormality of the vasculature of the neck"}]} +{"alt_ids":[],"definition":"Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx.","id":"HP:3000038","name":"Abnormal cricoid cartilage morphology","obsolete":false,"parents":["HP:0002763","HP:0025423"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of cricoid cartilage"}]} +{"alt_ids":[],"definition":"An abnormality of a dorsal nasal artery.","id":"HP:3000039","name":"Abnormality of dorsal nasal artery","obsolete":false,"parents":["HP:0410006"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of an ethmoid sinus.","id":"HP:3000040","name":"Abnormality of ethmoid sinus","obsolete":false,"parents":["HP:0000245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of ethmoidal air cells"}]} +{"alt_ids":[],"definition":"A structural abnormality of an external carotid artery.","id":"HP:3000041","name":"Abnormal external carotid artery 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(horseshoe-shaped) solitary bone, situated in the midline of the neck anteriorly at the base of the mandible and posteriorly at the fourth cervical vertebra.","id":"HP:3000052","name":"Abnormal hyoid bone morphology","obsolete":false,"parents":["HP:0011842"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of hyoid bone"}]} +{"alt_ids":[],"definition":"A structural anomaly of the hypopharyx, which is the most inferior portion of the pharynx. The hypopharynx continues from the oropharynx at the pharyngoepiglottic fold superiorly and extends inferiorly to the level of the inferior aspect of the cricoid cartilage, which marks the beginning of the cervical esophagus.","id":"HP:3000053","name":"Abnormal hypopharynx morphology","obsolete":false,"parents":["HP:0033151"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of hypopharynx"},{"scope":"EXACT","text":"Abnormality of lower pharynx"}]} +{"alt_ids":[],"definition":"An abnormality of an inferior alveolar artery.","id":"HP:3000054","name":"Abnormal inferior alveolar artery morphology","obsolete":false,"parents":["HP:0031816","HP:3000036"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of an inferior alveolar nerve.","id":"HP:3000055","name":"Abnormality of inferior alveolar nerve","obsolete":false,"parents":["HP:0001291","HP:0045010"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of an artery of lower lip.","id":"HP:3000056","name":"Abnormality of artery of lower lip","obsolete":false,"parents":["HP:3000024"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the inferior labial artery"}]} +{"alt_ids":[],"definition":"An abnormality of an inferior oblique extraocular muscle.","id":"HP:3000057","name":"Abnormality of inferior oblique extraocular muscle","obsolete":false,"parents":["HP:0008049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the inferior oblique muscle"}]} +{"alt_ids":[],"definition":"An abnormality of an inferior rectus extraocular muscle.","id":"HP:3000058","name":"Abnormality of inferior rectus extraocular muscle","obsolete":false,"parents":["HP:0008049"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of an inferior thyroid vein.","id":"HP:3000059","name":"Abnormal inferior thyroid vein morphology","obsolete":false,"parents":["HP:0002624"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of inferior thyroid vein"}]} +{"alt_ids":[],"definition":"An abnormality of an infraorbital artery.","id":"HP:3000060","name":"Abnormal infraorbital artery morphology","obsolete":false,"parents":["HP:0025015"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of infraorbital artery"}]} +{"alt_ids":[],"definition":"A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal.","id":"HP:3000061","name":"Abnormality of infra-orbital nerve","obsolete":false,"parents":["HP:0010824"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of the infraorbital nerve"}]} +{"alt_ids":[],"definition":"An abnormality of an internal carotid artery.","id":"HP:3000062","name":"Abnormal internal carotid artery morphology","obsolete":false,"parents":["HP:0005344","HP:3000036"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of internal carotid artery"}]} +{"alt_ids":[],"definition":"An abnormality of an internal jugular vein.","id":"HP:3000063","name":"Abnormality of internal jugular vein","obsolete":false,"parents":["HP:3000042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of an intrinsic muscle of tongue.","id":"HP:3000064","name":"Abnormality of intrinsic muscle of tongue","obsolete":false,"parents":["HP:0040173"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of intrinsic lingual muscle"}]} +{"alt_ids":[],"definition":"An abnormality of a lacrimal artery.","id":"HP:3000065","name":"Abnormal lacrimal artery morphology","obsolete":false,"parents":["HP:0011004","HP:3000036"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of lacrimal artery"}]} +{"alt_ids":[],"definition":"An abnormality of a lacrimal sac.","id":"HP:3000066","name":"Abnormal lacrimal sac morphology","obsolete":false,"parents":["HP:0000614"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of lacrimal sac"}]} +{"alt_ids":[],"definition":"Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway.","id":"HP:3000067","name":"Abnormal lateral cricoarytenoid muscle morphology","obsolete":false,"parents":["HP:0025423","HP:0025668","HP:0040286"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal anterior cricoarytenoid muscle morphology"},{"scope":"EXACT","text":"Abnormality of lateral crico-arytenoid"},{"scope":"EXACT","text":"Abnormality of lateral cricoarytenoid muscle"}]} +{"alt_ids":[],"definition":"An abnormality of a lateral pterygoid muscle.","id":"HP:3000068","name":"Abnormality of lateral pterygoid muscle","obsolete":false,"parents":["HP:0410011"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of a lateral rectus extra-ocular muscle.","id":"HP:3000069","name":"Abnormality of lateral rectus extra-ocular muscle","obsolete":false,"parents":["HP:0008049"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of a levator anguli oris.","id":"HP:3000070","name":"Abnormality of levator anguli oris","obsolete":false,"parents":["HP:0430019"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of a levator labii superioris.","id":"HP:3000071","name":"Abnormality of levator labii superioris","obsolete":false,"parents":["HP:0430019"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of a levator palpebrae superioris.","id":"HP:3000072","name":"Abnormal levator palpebrae superioris morphology","obsolete":false,"parents":["HP:0000492","HP:0008049"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of a levator veli palatini.","id":"HP:3000073","name":"Abnormality of levator veli palatini muscle","obsolete":false,"parents":["HP:0430014"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural abnormality of a lingual artery.","id":"HP:3000074","name":"Abnormal lingual artery morphology","obsolete":false,"parents":["HP:0011004","HP:0030809","HP:3000036"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of lingual artery"}]} +{"alt_ids":[],"definition":"Any structural anomaly of a lingual nerve.","id":"HP:3000075","name":"Abnormal lingual nerve morphology","obsolete":false,"parents":["HP:0045010"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of lingual nerve"}]} +{"alt_ids":[],"definition":"An abnormality of a lingual tonsil.","id":"HP:3000076","name":"Abnormality of lingual tonsil","obsolete":false,"parents":["HP:0030809","HP:0100765"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of a mandible condylar process.","id":"HP:3000077","name":"Abnormal mandible condylar process morphology","obsolete":false,"parents":["HP:0000277","HP:0031816"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of mandible condylar process"}]} +{"alt_ids":[],"definition":"An abnormality of a mandible coronoid process.","id":"HP:3000078","name":"Abnormal mandible coronoid process morphology","obsolete":false,"parents":["HP:0000277","HP:0031816"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of mandible coronoid process"}]} +{"alt_ids":[],"definition":"A structural abnormality of a mandibular symphysis.","id":"HP:3000079","name":"Abnormal mandibular symphysis morphology","obsolete":false,"parents":["HP:0001367","HP:0031816"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality of mandible symphysis"}]} +{"alt_ids":[],"definition":"Abnormal finding by magnetic resonance imaging (MRI), which uses non-ionizing radiation via a strong magnetic field and radio frequency energy to generate three dimensional images. This term comprises findings that are specific to MRI. Findings such as ventricular spetum defect that can be detected by multiple modalities should be coded separately.","id":"HP:4000001","name":"Abnormal cardiac magnetic resonance imaging finding","obsolete":false,"parents":["HP:0001627"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased duration of myocardial T2 time without gadolinium contrast. Elevated T2, which can detect myocardial edema.","id":"HP:4000003","name":"Elevated myocardial native T2","obsolete":false,"parents":["HP:4000001"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium.","id":"HP:4000004","name":"Myocardial late gadolinium enhancement","obsolete":false,"parents":["HP:4000001"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delayed myocardial gadolinium enhancement"}]} +{"alt_ids":[],"definition":"Areas of high signal intensity in magnetic resonance imaging of the pericardium appearing around 10 minutes after injection of the intercellular contrast agent gadolinium.","id":"HP:4000005","name":"Pericardial late gadolinium enhancement","obsolete":false,"parents":["HP:0001697"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased duration of myocardial T1 time without gadolinium contrast. T1 mapping consists of quantifying the T1 relaxation time of a tissue by using analytical expressions of image-based signal intensities. A fundamental principle of MR imaging is that the signal intensity of pixels is based on the relaxation of hydrogen nuclei protons in a static magnetic field. The T1 relaxation times between two tissues vary substantially. Edema, fat infiltration, and fibrosis also cause differences in T1 relaxivity.","id":"HP:4000006","name":"Elevated myocardial native T1","obsolete":false,"parents":["HP:4000001"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prolonged myocardial native T1"}]} +{"alt_ids":["HP:0025428"],"definition":"Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath.","id":"HP:4000007","name":"Bronchoconstriction","obsolete":false,"parents":["HP:0025427"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bronchial constriction"},{"scope":"EXACT","text":"Bronchospasm"},{"scope":"EXACT","text":"Constriction of the bronchi"}]} +{"alt_ids":[],"definition":"Pronuclei formation is a critical process during fertilization. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilization. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilization with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI.","id":"HP:4000008","name":"Formation of multiple pronuclei during fertilization","obsolete":false,"parents":["HP:0033335"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An excessive, irrational, and debilitating fear of carrying out a physical movement due to a feeling of vulnerability to painful injury or reinjury.","id":"HP:4000009","name":"Kinesiophobia","obsolete":false,"parents":["HP:5200232"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased renal tubular reabsorption of bicarbonate.","id":"HP:4000010","name":"Impaired renal tubular reabsorption of bicarbonate","obsolete":false,"parents":["HP:0011038"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital human papillomavirus (HPV) infection of the newborn. Congential HPV infection can manifest as condyloma cuminata in the newborn.","id":"HP:4000011","name":"History of congenital HPV infection","obsolete":false,"parents":["HP:0033623"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:4000012","name":"Necrotizing ileitis","obsolete":false,"parents":["HP:0032564"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-1, a dermal cell adhesion molecule.","id":"HP:4000013","name":"Anti-desmoglein-1 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-3, a dermal cell adhesion molecule.","id":"HP:4000014","name":"Anti-desmoglein-3 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against envoplakin, a cytoskeletal linker protein that links intermediate filaments to cellular junctions.","id":"HP:4000015","name":"Anti-envoplakin antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against periplakin.","id":"HP:4000016","name":"Anti-periplakin antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-1.","id":"HP:4000017","name":"Anti-desmoplakin I antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-II.","id":"HP:4000018","name":"Anti-desmoplakin II antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against BP230.","id":"HP:4000019","name":"Anti-BP230 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against BP180.","id":"HP:4000020","name":"Anti-BP180 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-332.","id":"HP:4000021","name":"Anti-laminin 332 antibody positivity","obsolete":false,"parents":["HP:4000024"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-laminin 5 antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-6.","id":"HP:4000022","name":"Anti-laminin 6 antibody positivity","obsolete":false,"parents":["HP:4000024"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against laminin gamma-1.","id":"HP:4000023","name":"Anti-laminin gamma1 antibody positivity","obsolete":false,"parents":["HP:4000024"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against a laminin. Laminins are major components of the basement membrane.","id":"HP:4000024","name":"Anti-laminin antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion molecules with 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth.","id":"HP:4000025","name":"Anti-integrin antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transglutaminase 6.","id":"HP:4000026","name":"Anti-transglutaminase 6 antibody","obsolete":false,"parents":["HP:0033563"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against LAD-1, which is the soluble 120 kDa ectodomain of BP180.","id":"HP:4000027","name":"Anti-LAD-1 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against LABD97, which is structurally identical to a portion of the extracellular domain of BPAg2. BPAg2, a 180 kDa bullous pemphigoid antigen, is a transmembrane protein important for basement membrane cohesion.","id":"HP:4000028","name":"Anti-LABD97 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against gliadin.","id":"HP:4000029","name":"Antigliadin antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"AGA autoantibodies"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against reticulin.","id":"HP:4000030","name":"Anti-reticulin antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against collagen type VII.","id":"HP:4000031","name":"Anti-type VII collagen antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A perception that one's body is moving or swaying despite lack of motion of the body.","id":"HP:4000032","name":"False perception of self-motion","obsolete":false,"parents":["HP:0001751"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A perception of unsteadiness of dizziness that is not characterized bythe spinning sensation of classic vertigo, but rather by an oscillatory perception (rocking, bobbing, or swaying despite the fact that the subject is not moving).","id":"HP:4000033","name":"Non-spinning vertigo","obsolete":false,"parents":["HP:0001751"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased lymphocyte count during infections.","id":"HP:4000034","name":"Infection-associated lymphopenia","obsolete":false,"parents":["HP:0001888"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Infection-associated lymphocytopenia"}]} +{"alt_ids":[],"definition":"Megaurater associated with obstruction or an adynamic ureteral segment in the ureterovesical junction.","id":"HP:4000035","name":"Primary obstructive megaureter","obsolete":false,"parents":["HP:0000072"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of hydrocele testis in which both the proximal and distal portions of processus vaginalis get obliterated while the central portion remains patent and fluid accumulates within it.","id":"HP:4000036","name":"Encysted hydrocele of the cord","obsolete":false,"parents":["HP:0000034"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Congenital hydrocele occurs when processus vaginalis is patent and communicates with the peritoneal cavity. This communication allows the movement of peritoneal fluid but is too small to allow the intra-abdominal contents to herniate through.","id":"HP:4000037","name":"Congenital hydrocele","obsolete":false,"parents":["HP:0000034"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Infantile Hydrocele is a type pf hydrocele in which the processus vaginalis gets obliterated at the level of the deep inguinal ring. However, the portion distal to it remains patent and allows fluid accumulation.","id":"HP:4000038","name":"Infantile hydrocele","obsolete":false,"parents":["HP:0000034"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count.","id":"HP:4000039","name":"Decreased mucosal-associated invariant T cell proportion","obsolete":false,"parents":["HP:0020340"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased MAIT cell frequency"},{"scope":"EXACT","text":"Reduced mucosal-associated invariant T cell proportion"},{"scope":"EXACT","text":"Reduced proportion of mucosal-associated invariant T cells"}]} +{"alt_ids":[],"definition":"Onset of a phenotypic abnormality or a disease during childbirth or in the period immediately following.","id":"HP:4000040","name":"Puerpural onset","obsolete":false,"parents":["HP:0003674"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Extracellular tissue deposition of fibrils that are composed of fragments of and/or intact serum amyloid A protein, a hepatic acute phase reactant.","id":"HP:4000041","name":"AA amyloidosis","obsolete":false,"parents":["HP:0011034"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Category of fracture. Terms from this subontology can be used together with terms in the subontology that descends from Bone fracture (HP:0020110).","id":"HP:4000042","name":"Fracture type","obsolete":false,"parents":["HP:0012823"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of fracture in which the broken bone is not completely separated.","id":"HP:4000043","name":"Greenstick fracture","obsolete":false,"parents":["HP:4000042"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Incomplete fracture"}]} +{"alt_ids":[],"definition":"A type of fracture in which the break is in a straight line across the bone.","id":"HP:4000044","name":"Transverse fracture","obsolete":false,"parents":["HP:4000042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of fracture in which the break spirals around the bone.","id":"HP:4000045","name":"Spiral fracture","obsolete":false,"parents":["HP:4000042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of fracture in which there is a diagonal break across the bone.","id":"HP:4000046","name":"Oblique fracture","obsolete":false,"parents":["HP:4000042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of fracture in which the bone is crushed, causing the broken bone to be wider or flatter in appearance.","id":"HP:4000047","name":"Compression fracture","obsolete":false,"parents":["HP:4000042"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Wedge fracture"}]} +{"alt_ids":[],"definition":"A type of fracture in which the break is in three or more pieces and fragments are present at the fracture site.","id":"HP:4000048","name":"Comminuted fracture","obsolete":false,"parents":["HP:4000042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of fracture in which the same bone is fractured in two places, so there is a floating segment of bone.","id":"HP:4000049","name":"Segmental fracture","obsolete":false,"parents":["HP:4000042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of fracture in which there is an open wound or break in the skin near the site of the broken bone.","id":"HP:4000050","name":"Open fracture","obsolete":false,"parents":["HP:4000042"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Compound fracture"}]} +{"alt_ids":[],"definition":"A type of fracture in which the broken bone that does not penetrate the skin.","id":"HP:4000051","name":"Closed fracture","obsolete":false,"parents":["HP:4000042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of fracture that is localied near to a a tendon or ligament and a small fragment of bone is separated from the main mass of bone as a result of physical trauma.","id":"HP:4000052","name":"Avulsion fracture","obsolete":false,"parents":["HP:4000042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of fracture in which the ends of the fractured bone are no longer aligned.","id":"HP:4000053","name":"Displaced fracture","obsolete":false,"parents":["HP:4000042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A widespread rash.","id":"HP:4000054","name":"Exanthem","obsolete":false,"parents":["HP:0000988"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reaction characterizeds by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling localized to the in the intestinal tract.","id":"HP:4000055","name":"Intestinal inflammation","obsolete":false,"parents":["HP:0004386"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterized by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighboring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response.","id":"HP:4000056","name":"Abnormal apoptosis","obsolete":false,"parents":["HP:0011017"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A reduced amount of programmed cell death upon stimulation of the FAS receptor, which normally induces caspase-8 dependent apoptosis.","id":"HP:4000057","name":"Decreased FasL-mediated apoptosis","obsolete":false,"parents":["HP:4000056"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin.","id":"HP:4000058","name":"Glomerular proteinuria","obsolete":false,"parents":["HP:0000093"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural defect associated with abnormal development of the lung.","id":"HP:4000059","name":"Abnormal lung development","obsolete":false,"parents":["HP:0002088"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Developmental pulmonary anomaly"}]} +{"alt_ids":[],"definition":null,"id":"HP:4000060","name":"Abnormal pulmonary alveolar system development","obsolete":false,"parents":["HP:0033137","HP:4000059"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A diffuse and specific increase in the number of alpha-cells.","id":"HP:4000061","name":"Pancreatic alpha-cell hyperplasia","obsolete":false,"parents":["HP:0004510"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital hand malformation characterized by the coalescence of the coalescence of third and fourth metacarpals (i.e., those corresponding to the middle and ring fingers).","id":"HP:4000062","name":"3-4 metacarpal synostosis","obsolete":false,"parents":["HP:0009706","HP:0009707"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused third and fourth metacarpals"},{"scope":"EXACT","text":"Middle and ring finger metacarpal synostosis"},{"scope":"EXACT","text":"Synostosis of third and the fourth metacarpal bones"}]} +{"alt_ids":[],"definition":"Hallucination during onset/falling asleep in any sensory modality, usually auditory, visual, or tactile.","id":"HP:4000063","name":"Sleep related hallucination","obsolete":false,"parents":["HP:0000738","HP:5200293"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Subjectively or observationally reported sleep that is insufficiently restorative, disrupted, or of inadequate quality, regardless of duration. Poor sleep may involve difficulty maintaining sleep continuity, frequent awakenings, a sense of light or shallow sleep, or waking up feeling unrefreshed. It is typically identified through self-report or clinical interview and not by objective measurements.","id":"HP:4000064","name":"Poor sleep","obsolete":false,"parents":["HP:0002360"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low-quality sleep"},{"scope":"EXACT","text":"Poor sleep quality"},{"scope":"EXACT","text":"Sleeping badly"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the iliac artery.","id":"HP:4000066","name":"Abnormal iliac artery morphology","obsolete":false,"parents":["HP:0020317"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal outpouching or sac-like dilatation in the iliac artery.","id":"HP:4000067","name":"Iliac artery aneurysm","obsolete":false,"parents":["HP:4000066"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from normal intensity or subject of a person's interests, which can be defined as a state of giving selective attention to something.","id":"HP:4000068","name":"Abnormal interest","obsolete":false,"parents":["HP:0000708"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of abnormal interest characterized by a persistent and intense focus on parts of a toy/object. For example, affected individuals may spin the wheels on a toy car rather than drive the toy car.","id":"HP:4000069","name":"Persistent preoccupation with parts of objects","obsolete":false,"parents":["HP:5200108"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fixated interest in unusual objects"},{"scope":"EXACT","text":"Fixated interest with parts of objects"},{"scope":"EXACT","text":"Fixation with parts of objects"}]} +{"alt_ids":[],"definition":"Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests).","id":"HP:4000070","name":"Fixated interests","obsolete":false,"parents":["HP:0031432"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Circumscribed interests"},{"scope":"EXACT","text":"Restricted interests"}]} +{"alt_ids":[],"definition":"The presence of any atypical form of expressive language.","id":"HP:4000072","name":"Abnormal language feature","obsolete":false,"parents":["HP:0034434"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Atypical language features characterized by first vs. second or third person pronoun errors such as using 'you' or 'he/she' in place of 'I'.","id":"HP:4000073","name":"Pronoun reversal","obsolete":false,"parents":["HP:4000072"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Production of sound done without will or conscious control. Involuntary vocalizations include tics, stereotypies vocalizations as part of dystonia or chorea, continuous vocalizing behaviors such as groaning or grunting, pathological laughter and crying, and others. These vocalizations are not recognized as socially or culturally appropriate.","id":"HP:4000074","name":"Involuntary vocalization","obsolete":false,"parents":["HP:0011442"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The number of times facial expressions are produced in a given period is lower than expected given the social and cultural context.","id":"HP:4000075","name":"Reduced frequency of facial expressions","obsolete":false,"parents":["HP:4000087"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Moving another person's hand, body part, or body to communicate a desire, e.g. pushing or pulling someone toward a desired object or placing someone's hand on something.","id":"HP:4000076","name":"Use of another person's body to communicate","obsolete":false,"parents":["HP:0000758"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hand-leading gesture"},{"scope":"EXACT","text":"Hand-taking gestures"}]} +{"alt_ids":[],"definition":"A fixated interest in a specific topic that is atypical for the social context of the individual, such as topics of a non-social nature like fossils or vacuum cleaners.","id":"HP:4000077","name":"Fixated interest with abnormal focus","obsolete":false,"parents":["HP:0025785","HP:4000070"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual preoccupations"}]} +{"alt_ids":[],"definition":"An abnormally intense interest in a topic or object that is not atypical for the social context of the affected person.","id":"HP:4000078","name":"Fixated interest with abnormal intensity","obsolete":false,"parents":["HP:4000070"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Unusual interest in sensory aspects of the environment.","id":"HP:4000079","name":"Sensory seeking","obsolete":false,"parents":["HP:5200046"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:4000080","name":"obsolete 4000080","obsolete":true,"parents":[],"replaced_by":["HP:5200027"],"synonyms":[]} +{"alt_ids":[],"definition":"Diminished use of typical non-verbal conversational gestures such as shaking the head to indicate no or nodding the head to indicate yes.","id":"HP:4000081","name":"Reduced production of gestures","obsolete":false,"parents":["HP:4000090"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Impairment in a child's ability to be able to play in a way that involves peer collaboration. Collaborative play involves things such as verbal and non-verbal communication (e.g., self-initiated interactions), turn-taking, sharing, reciprocity, and collaborative problem-solving. It is often contrasted to parallel play, which involves a form of social play in which two children do similar activities near each other and often mimic each other. Typically developing children develop collaborative play between the ages of 4 and 5.","id":"HP:4000082","name":"Reduced cooperative play","obsolete":false,"parents":["HP:5200104","HP:5200136"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced collaborative play"}]} +{"alt_ids":[],"definition":"Lack of interest in peers of comparable age and social groups is evident when an individual, such as a child, shows more interest in socializing with adults rather than children their own age.","id":"HP:4000083","name":"Lack of interest in peers","obsolete":false,"parents":["HP:0012760"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ignores peers"},{"scope":"EXACT","text":"Reduced desire to interact with peers"},{"scope":"EXACT","text":"Reduced interest in other children"}]} +{"alt_ids":[],"definition":"An absence or abnormally low frequency of engaging with others to share personal interests or topics. Interest sharing includes offers of information about oneself as a form of social interaction.","id":"HP:4000084","name":"Reduced sharing of interests","obsolete":false,"parents":["HP:5200027"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects such as toys, balls, or books with parents or peers during object play.","id":"HP:4000085","name":"Reduced object sharing","obsolete":false,"parents":["HP:5200027"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal expressions (movements or position of muscles of the face that convey the emotional state of an individual to observers during social interactions) comprising abnormalities of quantity, range, context-appropriateness, and quality.","id":"HP:4000087","name":"Abnormal communicative facial expressions","obsolete":false,"parents":["HP:0000758"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal facial expression use"}]} +{"alt_ids":[],"definition":"Production of facial expressions that are misaligned with the social context.","id":"HP:4000088","name":"Facial expressions that do not match the context","obsolete":false,"parents":["HP:4000087"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Spontaneous production of communicative facial expressions that have poor quality or are exaggerated or muted.","id":"HP:4000089","name":"Abnormal quality of facial expression","obsolete":false,"parents":["HP:4000087"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atypical facial expressions"}]} +{"alt_ids":[],"definition":"Abnormality in the use of gestures defined as hand, shoulder, and head movements that convey a shared meaning within a culture that replace or supplement verbal communication.","id":"HP:4000090","name":"Abnormal gesture use","obsolete":false,"parents":["HP:0000758"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal communicative gesture use"},{"scope":"EXACT","text":"Abnormal communicative gestures"},{"scope":"EXACT","text":"Abnormal gestures"}]} +{"alt_ids":[],"definition":"Reduced use of reciprocal (back and forth) conversation, as compared to what would be expected for language level.","id":"HP:4000092","name":"Poor conversational reciprocity","obsolete":false,"parents":["HP:5200136"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Failure of normal back-and-forth conversation"}]} +{"alt_ids":[],"definition":"A condition in which the permanent teeth, because of deficiency of growth in the jaw or segment of jaw, assume a path of eruption that intercepts a primary tooth, causes its premature loss and produces a consequent malposition of the permanent tooth.","id":"HP:4000093","name":"Ectopic tooth eruption","obsolete":false,"parents":["HP:0006292"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental anomaly characterized by undergrowth of the corpus cavernosum.","id":"HP:4000094","name":"Corpus cavernosum hypoplasia","obsolete":false,"parents":["HP:0100623"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of the nucleobase thymine in the blood circulation above the normal range.","id":"HP:4000095","name":"Elevated circulating thymine concentration","obsolete":false,"parents":["HP:0004353"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Elevated hydrogen gas level in exhaled breath following oral administration of lactose. In individuals with lactose intolerance, undigested lactose in the colon will be metabolized by colonic bacteria, releasing hydrogen gas.","id":"HP:4000100","name":"Positive lactose hydrogen breath test","obsolete":false,"parents":["HP:6000259"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:0034826"],"definition":"Applies to a sign or symptom that is provoked or brought about by administration of a medication.","id":"HP:4000101","name":"Triggered by exposure to medication","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triggered by medication exposure"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by exposure to allopurinol.","id":"HP:4000102","name":"Triggered by allopurinol","obsolete":false,"parents":["HP:4000101"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Allopurinol exposure"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by oral zinc supplementation.","id":"HP:4000103","name":"Ameliorated by oral zinc supplementation","obsolete":false,"parents":["HP:0034536"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Zinc oral supplementation produces improvement"}]} +{"alt_ids":[],"definition":"A root of a tooth that is more rounded than normal.","id":"HP:4000104","name":"Curved dental root","obsolete":false,"parents":["HP:0006486"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dental roots curved"}]} +{"alt_ids":[],"definition":"The four-chamber (4Ch) view of the fetal heart is the most widely used screening examination for the detection of structural cardiac abnormalities during routine fetal ultrasonography. In the healthy normal fetus, the apical 4Ch view demonstrates four well-developed chambers, a concordant atrioventricular (AV) connection, unobstructed AV valves (mitral and tricuspid valves), the foramen ovale flap opening into left atrium (LA), and an intact interventricular septum. Additionally, the pulmonary venous opening can be visualized at the LA wall. Any structural deviations from normal anatomy may lead to congenital heart disease that can be determined by the 4Ch view of the fetal heart's ultrasound imaging.","id":"HP:4000105","name":"Abnormal four chamber view of the fetal heart","obsolete":false,"parents":["HP:0010948"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal four chamber view"}]} +{"alt_ids":[],"definition":"A hamartomatous lesion (benign focal lesions composed of disorganized tissue elements) localized in the spleen.","id":"HP:4000106","name":"Spleen hamartoma","obsolete":false,"parents":["HP:0010566"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deposits of immunoglobulins and complement components along the dermoepidermal junction.","id":"HP:4000107","name":"Positive lupus band test","obsolete":false,"parents":["HP:0031538"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lupus band test positive"}]} +{"alt_ids":[],"definition":"Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of erythroid precursors in the bone marrow.","id":"HP:4000108","name":"Bone marrow erythroid vacuolization","obsolete":false,"parents":["HP:0012130"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bone marrow: erythroid vacuolization"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by exposure to an electromagnetic field.","id":"HP:4000109","name":"Triggered by electromagnetic field","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Electromagnetic field triggers symptoms"}]} +{"alt_ids":[],"definition":"Information about current and past exposure to metals, dust, fibers, fumes, chemicals, biologic hazards, radiation, noise, and/or vibration at work or home.","id":"HP:4000110","name":"Exposure history","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of exposure to asbestos, a fibrous mineral with physical and chemical properties that make it resistant to heat and degradation.","id":"HP:4000111","name":"Asbestos exposure","obsolete":false,"parents":["HP:4000110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Information about current or past medications taken by an individual.","id":"HP:4000112","name":"Medication history","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of having taken aminoglycoside antibiotics.","id":"HP:4000113","name":"Aminoglycoside exposure","obsolete":false,"parents":["HP:4000112"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of having taken statins, also known as HMG-CoA reductase inhibitors.","id":"HP:4000114","name":"Statin exposure","obsolete":false,"parents":["HP:4000112"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of having taken a potassium-sparing diuretic exposure such as amiloride, eplerenone, spironolactone, and triamterene.","id":"HP:4000115","name":"Potassium-sparing diuretic exposure","obsolete":false,"parents":["HP:4000112"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of having taken carbamazepine.","id":"HP:4000116","name":"Carbamazepine exposure","obsolete":false,"parents":["HP:4000112"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of having taken valproate (valproic acid).","id":"HP:4000117","name":"Valproate exposure","obsolete":false,"parents":["HP:4000112"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of having taken hydralazine.","id":"HP:4000118","name":"Hydralazine exposure","obsolete":false,"parents":["HP:4000112"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of having taken a calcium channel blocker such as amlodipine, nicardipine, nifedipine, verapamil, or diltiazem.","id":"HP:4000119","name":"Calcium channel blocker exposure","obsolete":false,"parents":["HP:4000112"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Calcium channel blocking drug use"}]} +{"alt_ids":[],"definition":null,"id":"HP:4000120","name":"Triggered by nickel","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Contact with nickel"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by exposure (cutaneous contact) to poison ivy, poison oak, and poison sumac. These three plants each contain urushiol. Contact with these plants is the most common causes of clinically diagnosed allergic contact dermatitis.","id":"HP:4000121","name":"Triggered by poison ivy, poson oak, or sumac","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Contact with poison ivy, poison oak, or sumac"}]} +{"alt_ids":[],"definition":"A past medical history of having been fed exclusively by breast feeding.","id":"HP:4000122","name":"History of exclusive breast feeding","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Breast feeding, exclusive"}]} +{"alt_ids":[],"definition":"A part of the past medical history consisting of information about the typical food intake of an individual.","id":"HP:4000123","name":"Nutrition history","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A history of ingestion of a relatively high amount of foods containing high levels of oxalate, such as green-leaf vegetables, tea, nuts, chocolate and rhubarb.","id":"HP:4000124","name":"High dietary oxalate intake","obsolete":false,"parents":["HP:4000123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foods high in oxalate, high intake"}]} +{"alt_ids":[],"definition":"A history of ingestion of honey in recent weeks.","id":"HP:4000125","name":"Recent honey ingestion","obsolete":false,"parents":["HP:4000123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Honey ingestion in recent weeks"}]} +{"alt_ids":[],"definition":"A history of eating raw egg whites.","id":"HP:4000126","name":"Raw egg-white ingestion","obsolete":false,"parents":["HP:4000123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applied to a sign or symptom that is worsened by administration of sodium channel blocking agents such as phenytoin, carbamazepine, oxcarbazepine, lamotrigine, topiramate, and zonisamide.","id":"HP:4000127","name":"Exacerbated by sodium channel blocking agent exposure","obsolete":false,"parents":["HP:4000176"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sodium channel blocking drugs aggravate findings"}]} +{"alt_ids":[],"definition":"Addiction to inhaled nitrous oxide gas (N2O) is a growing concern.","id":"HP:4000128","name":"Addictive nitrous oxide use","obsolete":false,"parents":["HP:0033511"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nitrous oxide abuse"},{"scope":"EXACT","text":"Nitrous oxide addiction"}]} +{"alt_ids":[],"definition":"A past medical history of a recent blood transfusion.","id":"HP:4000129","name":"Recent blood transfusion","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blood transfusion, recent"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by administration of colchizine.","id":"HP:4000130","name":"Ameliorated by colchicine","obsolete":false,"parents":["HP:0034536"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Colchicine ameliorates symptoms"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by administration of vitamin D.","id":"HP:4000131","name":"Ameliorated by vitamin D","obsolete":false,"parents":["HP:0034536"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vitamin D reduces manifestations"}]} +{"alt_ids":[],"definition":"Applied to a sign or symptom that is worsened by administration of phenytoin.","id":"HP:4000132","name":"Exacerbated by phenytoin exposure","obsolete":false,"parents":["HP:4000176"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Phenytoin produces worsening"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by exposure to anngiotensin-converting enzyme inhibitor such as benazepril, captopril, enalapril, fosinopril, and lisinopril.","id":"HP:4000133","name":"Triggered by angiotensin-converting enzyme inhibitor","obsolete":false,"parents":["HP:4000101"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ACE inhibitors trigger attacks"}]} +{"alt_ids":[],"definition":"History of having been treateed with prostaglandin E1.","id":"HP:4000134","name":"Prostaglandin E1 exposure","obsolete":false,"parents":["HP:4000112"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of having been treated with 5-fluorouracil.","id":"HP:4000135","name":"5-fluorouracil exposure","obsolete":false,"parents":["HP:4000112"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of having been treateed with 6-mercaptopurine.","id":"HP:4000136","name":"6-mercaptopurine exposure","obsolete":false,"parents":["HP:4000112"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of having been treateed with isoniazid.","id":"HP:4000137","name":"Isoniazid exposure","obsolete":false,"parents":["HP:4000112"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The cavum septum pellucidum (CSP) is an important fetal midline forebrain landmark that is normally visible by prenatal sonography. This term refers to the lack of visibility of the CSP on prenatal sonography. The CSP normally can be visualized between 18 and 37 weeks of gestation. Lack of visualization of the CSP in this time period generally requires follow up and may indicate the presence of underlying malformations such as malformations of the corpus callosum. The lack of CSP before 18 weeks or after 37 weeks of gestation (or postnatally) is considered a normal finding.","id":"HP:4000138","name":"Absent cavum septum pellucidum","obsolete":false,"parents":["HP:0007375","HP:0034206"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fetal abdominal cysts are usually detected during the second trimester anomaly scan or discovered incidentally at later gestations. However, a definitive diagnosis is often not made until postnatal life. The most common etiologies of fetal abdominal cysts are: ovarian, gastrointestinal cystic duplication, liver and choledochal, meconium pseudocysts, mesenteric and adrenal. Following identification of a cyst, careful morphological assessment allows the prediction of their natural history and importantly, the likelihood of surgical intervention being required postnatally.","id":"HP:4000139","name":"Fetal abdominal cyst","obsolete":false,"parents":["HP:0034207"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fetal cystic abdominal mass"},{"scope":"EXACT","text":"Foetal abdominal cyst"},{"scope":"EXACT","text":"Foetal cystic abdominal mass"}]} +{"alt_ids":[],"definition":"Fetal bowel dilatation is characterized by fluid-filled intestinal loops which measure at least fifteen millimeters long or seven millimeters in diameter. Ultrasonographic image of dilated fetal bowel is a sign of intestinal mechanical or functional obstruction and its prevalence will depend on the underlying condition: bowel atresia or stenosis, malrotation with volvulus, meconium ileus, total colonic aganglionosis, and meconium plug syndrome. The etiology of fetal bowel dilatation is a difficult prenatal diagnosis since ultrasound has limited accuracy for bowel evaluation.","id":"HP:4000140","name":"Fetal bowel dilatation","obsolete":false,"parents":["HP:0034207"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foetal bowel dilatation"},{"scope":"EXACT","text":"Prenatal ultrasound: bowel loops dilated"}]} +{"alt_ids":[],"definition":"Enlargement of the chamber of the left heart ventricle.","id":"HP:4000141","name":"Left ventricular dilatation","obsolete":false,"parents":["HP:0001711"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dilated left heart ventricle"}]} +{"alt_ids":[],"definition":"A fetal ultrasound finding defined by flattening of the occiput with pointing of the frontal bones and brachycephaly with an increased cephalic index. It is characterized by keel shaped deformity of forehead with midline ridge, bilateral fronto temporal constriction with compensatory biparietal expansion, supra orbital and lateral orbital retrusion and hypotelorism. This finding is said to resemble a strawberry.","id":"HP:4000142","name":"Fetal trigonocephaly","obsolete":false,"parents":["HP:0025662"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foetal trigonocephaly"},{"scope":"EXACT","text":"Strawberry sign"},{"scope":"EXACT","text":"Strawberry skull"},{"scope":"EXACT","text":"Strawberry-shaped skull"}]} +{"alt_ids":[],"definition":"A prenatal anomaly of the outflow tract. Fetal ultrasound may not always be able to easily and accurately describe the outflow anomaly, but can detect abnormal anatomy. Often, follow up with a fetal echo is recommended, but fetal ultrasound is limited.","id":"HP:4000143","name":"Abnormal fetal heart outflow tract","obsolete":false,"parents":["HP:0010948"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of events that precede the current presenting condition and are thought to be of potential relevance, having occurred in the hours, days, or weeks before the current condition.","id":"HP:4000144","name":"Recent past medical history","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Medical history of a viral illness in recent weeks.","id":"HP:4000145","name":"History of recent viral illness","obsolete":false,"parents":["HP:4000144"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Antecedent viral illness"}]} +{"alt_ids":[],"definition":"Medical history of a dental procedure in recent weeks.","id":"HP:4000146","name":"History of recent dental procedure","obsolete":false,"parents":["HP:4000144"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the hepatic artery or its branches.","id":"HP:4000147","name":"Abnormal hepatic artery morphology","obsolete":false,"parents":["HP:0006707"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase in size of the hepatic arteries.","id":"HP:4000148","name":"Hepatic artery hyperplasia","obsolete":false,"parents":["HP:4000147"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Areas of necrotic tissue within a lymph node.","id":"HP:4000149","name":"Lymph node necrosis","obsolete":false,"parents":["HP:0002733"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Necrosis in lymph node"}]} +{"alt_ids":[],"definition":"Neurons that contain more than one nucleus.","id":"HP:4000150","name":"Multinucleated neuron","obsolete":false,"parents":["HP:0012757"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A history of an injury that occurred several hours, days, or weeks before the current presenting complaint and is located on the other side of the body relative to the current presenting complaint.","id":"HP:4000151","name":"History of recent contralateral injury","obsolete":false,"parents":["HP:4000144"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Occurring on the left and right in succession. This term can refer to alternating sides of the body (e.g., Alternating hemiplegia) or alternative sides of the visual field (e.g., some migraine auras).","id":"HP:4000152","name":"Alternating laterality","obsolete":false,"parents":["HP:0012831"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Alternating sides of the body"}]} +{"alt_ids":[],"definition":"A benign tumor arising from the epithelial surface of the cervix and usually caused by Human Papillomavirus infection.","id":"HP:4000153","name":"Cervical squamous cell papilloma","obsolete":false,"parents":["HP:0032241"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cervix squamous papilloma"}]} +{"alt_ids":[],"definition":"A benign smooth muscle neoplasm that arises in the liver.","id":"HP:4000154","name":"Liver leiomyoma","obsolete":false,"parents":["HP:0002896"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hepatic leiomyoma"}]} +{"alt_ids":[],"definition":"Description of conditions in which only an incomplete but relatively high proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for incomplete, but high penetrance, but we suggest that this term be applied if at least 80 percent but less than 100 percent of individuals with the given genotype would manifest the disease with a full lifespan.","id":"HP:4000158","name":"Typified by high penetrance","obsolete":false,"parents":["HP:0003829"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Description of conditions in which only a moderate proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for moderate penetrance, but we suggest that this term be applied if at least 20 percent but less than 80 percent of individuals with the given genotype would manifest the disease with a full lifespan.","id":"HP:4000159","name":"Typified by moderate penetrance","obsolete":false,"parents":["HP:0003829"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Description of conditions in which only a low proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for low penetrance, but we suggest that this term be applied if at least some but less than 20 percent of carriers would manifest the disease with a full lifespan.","id":"HP:4000160","name":"Typified by low penetrance","obsolete":false,"parents":["HP:0003829"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased activity of the enzyme succinyl-CoA 3-ketoacid CoA transferase.","id":"HP:4000162","name":"Decreased Succinyl-CoA 3-ketoacid CoA transferase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"SCOT activity low in fibroblasts"}]} +{"alt_ids":[],"definition":"Activity of the enzyme phytanoyl-CoA hydroxylase (PhyH; EC 1.14.11.18) below the lower limit of normal in cultured fibroblasts. PhyH plays a role in the catabolism of phytanic acid, a branched-chain fatty acid that is a normal constituent of the human diet.","id":"HP:4000163","name":"Reduced phytanic acid oxidase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased phytanoyl-CoA hydroxylase activity"},{"scope":"EXACT","text":"PhyH activity low in fibroblasts"}]} +{"alt_ids":[],"definition":"Diminished activity of hydroxysteroid 17-beta dehydrogenase 4 (HSD17B4), also known as D-bifunctional protein (DBP), a peroxisomal enzyme that catalyzes multiple steps of beta-oxidation of very long chain fatty acids.","id":"HP:4000164","name":"Reduced bifunctional protein activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced 17-beta-hydroxysteroid dehydrogenase 4 activity"}]} +{"alt_ids":[],"definition":"Reduced plasmalogen concentration in the blood circulation.","id":"HP:4000165","name":"Decreased circulating plasmalogen concentration","obsolete":false,"parents":["HP:0040176"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced circulating plasmalogen concentration"}]} +{"alt_ids":[],"definition":"Infection with live, attenuated varicella-zoster virus following vaccination. This is an extremely rare event that may indicate immunocompromise.","id":"HP:4000166","name":"Post-vaccination varicella zoster virus infection","obsolete":false,"parents":["HP:0020085"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Varicella zoster virus infection after vaccination"}]} +{"alt_ids":[],"definition":"History of having been treated with corticosteroid medications in recent weeks.","id":"HP:4000167","name":"Recent steroid exposure","obsolete":false,"parents":["HP:4000112"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"History of recent steroid use"}]} +{"alt_ids":[],"definition":"Eruption of permanent teeth behind deciduous (baby) teeth before they have fallen out, resulting in a double row of teeth. This phenomen is typically observed between the ages of 5 to 7 years.","id":"HP:4000168","name":"Shark teeth","obsolete":false,"parents":["HP:0006292"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cauliflower teeth"},{"scope":"EXACT","text":"Double-parked teeth"},{"scope":"EXACT","text":"Teeth: double row"}]} +{"alt_ids":[],"definition":"A darker than expected T2 signal on magnetic resonance imaging (MRI) of the pons.","id":"HP:4000169","name":"Pontine T2 hypointensity","obsolete":false,"parents":["HP:0007361"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against antigens present on the surface of thrombocytes such as the glycoproteins GPIIb/IIIa, GPIb/IX, and GPIa/IIa.","id":"HP:4000170","name":"Anti-platelet antigen antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Antiplatelet antibodies present"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against a voltage-gated potassium channel.","id":"HP:4000171","name":"Anti-voltage-gated potassium channel antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Voltage gated potassium channel antibodies in blood"}]} +{"alt_ids":[],"definition":"A history of following a vegan diet characterized by avoidance of food sourced from animals including meat, fish, and dairy products.","id":"HP:4000172","name":"Vegan diet","obsolete":false,"parents":["HP:4000123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"One or more previous pregnancies in which the fetus developed hydrops fetalis.","id":"HP:4000173","name":"History of previous pregnancy with hydrops fetalis","obsolete":false,"parents":["HP:0032467"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"History of hydrops fetalis in newborn offspring"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by ingesting a potassium supplement.","id":"HP:4000174","name":"Ameliorated by potassium supplements","obsolete":false,"parents":["HP:0025254"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Potassium supplements alleviate attacks"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by ingesting niacin (vitamin B3).","id":"HP:4000175","name":"Ameliorated by niacin","obsolete":false,"parents":["HP:0025254"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ameliorated by vitamin B3"},{"scope":"EXACT","text":"Niacin reverses symptoms"}]} +{"alt_ids":[],"definition":"Applied to a sign or symptom that is worsened by treatment with a medication.","id":"HP:4000176","name":"Aggravated by exposure to medication","obsolete":false,"parents":["HP:0025285"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to bleeding that is significantly reduced by treatment with vitamin K.","id":"HP:4000177","name":"Bleeding ameliorated by vitamin K","obsolete":false,"parents":["HP:0034536"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vitamin K treatment reduces bleeding significantly"}]} +{"alt_ids":[],"definition":"History of having been treated with an antiretroviral agent.","id":"HP:4000178","name":"Anti-retroviral therapy exposure","obsolete":false,"parents":["HP:4000112"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of having been treated with a potassium-wasting diuretic such as thiazide (chlorothiazide, chlorthalidone, hydrochlorothiazide, indapamide, metolazone) and loop (bumetanide, ethacrynic acid, furosemide, torsemide) diuretics.","id":"HP:4000179","name":"Potassium-wasting diuretic exposure","obsolete":false,"parents":["HP:4000112"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of having been treated with a tricyclic antidepressant medication.","id":"HP:4000180","name":"Tricyclic antidepressant exposure","obsolete":false,"parents":["HP:4000112"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tricyclic antidepressant use"}]} +{"alt_ids":[],"definition":"A higher than expected amount of attrition of teeth, as menifested by loss of tooth characteristics including rounding or sharpening of incisal edges, loss of cusps, and fracturing of teeth, to an extent that is deemed more than would be expected at a given age.","id":"HP:4000181","name":"Excessive dental attrition","obsolete":false,"parents":["HP:0006482"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excessive tooth attrition"},{"scope":"EXACT","text":"Excessive wear and tear on teeth"}]} +{"alt_ids":[],"definition":"Pain improves or worsens with changes in body position.","id":"HP:4000182","name":"Positionally dependent pain","obsolete":false,"parents":["HP:0025280"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positional nature to pain"}]} +{"alt_ids":[],"definition":"Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) outside of the normal range.","id":"HP:4000183","name":"Abnormal erythrocyte adenosine triphosphate concentration","obsolete":false,"parents":["HP:0001877"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) below the lower limit of normal.","id":"HP:4000184","name":"Reduced erythrocyte adenosine triphosphate concentration","obsolete":false,"parents":["HP:4000183"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) above the upper limit of normal.","id":"HP:4000186","name":"Elevated erythrocyte adenosine triphosphate concentration","obsolete":false,"parents":["HP:4000183"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Adenosine triphosphate (ATP) high in erythrocytes"}]} +{"alt_ids":[],"definition":"A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatogonial stage. Testicular histology shows seminiferous tubules with Sertoli cells and spermatogonial cells but no further differentiated cells like spermatocytes or round spermatids.","id":"HP:4000187","name":"Spermatogonial maturation arrest","obsolete":false,"parents":["HP:0031038"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spermatogonial arrest"}]} +{"alt_ids":[],"definition":"Concentration of neuron-specific enolase above the upper limit of normal in the blood circulation.","id":"HP:4000189","name":"Elevated circulating neuron-specific enolase concentration","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neuron-specific enolase high in blood"}]} +{"alt_ids":[],"definition":"Concentration or activity of an alpha-mannosidase as measured in leukocytes is below the limits of normal.","id":"HP:4000190","name":"Reduced leukocyte alpha-mannosidase activity","obsolete":false,"parents":["HP:0034858"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of alpha mannosidase above the upper limit of normal in the blood circulation.","id":"HP:4000191","name":"Increased circulating alpha-mannosidase activity","obsolete":false,"parents":["HP:4000201"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of cathepsin D as measured in leukocytes is below the limits of normal. The reduction in cathepsin D activity can also be measured in fibroblasts.","id":"HP:4000192","name":"Reduced leukocyte cathepsin D activity","obsolete":false,"parents":["HP:0034858"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of N-sulfoglucosamine sulfohydrolase as measured in leukocytes is below the limits of normal.","id":"HP:4000193","name":"Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity","obsolete":false,"parents":["HP:0034858"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced leukocyte N-sulphoglucosamine sulphohydrolase activity"}]} +{"alt_ids":[],"definition":"Pseudohyperkalemia describes a falsely elevated potassium level upon measurement of the serum electrolyte concentration due to disruption of cells during the collection or processing of the sample.","id":"HP:4000194","name":"Pseudohyperkalemia","obsolete":false,"parents":["HP:0011042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of an enzyme is above or below the limits of normal in cultured fibroblasts. Fibroblasts are easy to grow in culture and are the main cell type involved in producing extracellular matrix. They are used as a convenient model system for measuring enzyme activity for enzymes that are not expressed in blood cells. Usually, the test is done in fibroblasts for convenience rather than for the investigation of a pathophysiology specific to fibroblasts.","id":"HP:4000195","name":"Abnormal enzyme activity in cultured fibroblasts","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of N-sulfoglucosamine sulfohydrolase as measured in cultured fibroblasts is below the limits of normal.","id":"HP:4000196","name":"Reduced heparan-alpha-glucosaminide N-acetyltransferase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of N-acetylgalactosamine-6-sulfatase as measured in cultured fibroblasts is below the limits of normal.","id":"HP:4000197","name":"Reduced N-acetylgalactosamine-6-sulfatase in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced N-acetylgalactosamine-6-sulfate sulfatase in cultured fibroblasts"}]} +{"alt_ids":[],"definition":"Concentration or activity of N-acetylglucosamine-6-sulfatase (EC 3.1.6.14) as measured in cultured fibroblasts is below the limits of normal. N-acetylglucosamine-6-sulfatase hydrolyzes heparan sulfate and keratan sulfate.","id":"HP:4000198","name":"Reduced acetylglucosamine-6-sulfatase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced acetylglucosamine-6-sulfate sulfatase activity in cultured fibroblasts"}]} +{"alt_ids":[],"definition":"Activity or concentration of in the level of porphobilinogen deaminase (EC 4.3.1.8) in erythrocytes below the lower limit of normal.","id":"HP:4000199","name":"Reduced erythrocyte porphobilinogen deaminase activity","obsolete":false,"parents":["HP:0030272"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of holocarboxylase synthetase (EC 6.3.4.10) as measured in cultured fibroblasts is below the limits of normal.","id":"HP:4000200","name":"Reduced holocarboxylase synthetase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of alpha mannosidase outside of the limits of normal in the blood circulation.","id":"HP:4000201","name":"Abnormal circulating alpha mannosidase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of alpha-N-acetylgalactosaminidase (EC 3.2.1.49) is below the limits of normal. The activity can be measured in multiple tissues including cultured fibroblasts.","id":"HP:4000202","name":"Reduced tissue alpha-N-acetylgalactosaminidase activity","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity or concentration of arginase (EC 3.5.3.1) in red blood cells below the lower limit of normal. Arginase catalyzes the last step of the urea cycle.","id":"HP:4000203","name":"Reduced erythrocyte arginase activity","obsolete":false,"parents":["HP:0030272"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of mitochondrial acetyl-CoA acetyltransferase (EC 2.3.1.9) as measured in cultured fibroblasts is below the limits of normal.","id":"HP:4000204","name":"Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of beta-mannosidase (EC 3.2.1.25) below the lower limit of normal. Beta-mannosidas enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts.","id":"HP:4000205","name":"Reduced tissue beta-mannosidase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Reduced beta-mannosidase activity in cultured fibroblasts"}]} +{"alt_ids":[],"definition":"Activity of 3-methylcrotonyl-CoA carboxylase (EC 6.4.1.4) below the lower limit of normal in cultured fibroblasts.","id":"HP:4000206","name":"Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"3-methylcrotonyl CoA carboxylase low in fibroblasts"}]} +{"alt_ids":[],"definition":"Activity of branched-chain alpha-keto acid dehydrogenase complex (EC 1.2.4.4) below the lower limit of normal in cultured fibroblasts.","id":"HP:4000207","name":"Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity or concentration of in the level of galactose-1-phosphate uridylyltransferase (GALT; EC 2.7.7.12) in erythrocytes below the lower limit of normal.","id":"HP:4000208","name":"Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity","obsolete":false,"parents":["HP:0030272"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of adenosine deaminase in red blood cells outside the limits of normal.","id":"HP:4000209","name":"Abnormal erythrocyte adenosine deaminase activity","obsolete":false,"parents":["HP:0030272"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of isovaleryl-CoA dehydrogenase (EC 1.3.99.10) below the lower limit of normal in cultured fibroblasts.","id":"HP:4000210","name":"Reduced isovaleryl CoA dehydrogenase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of glycerol kinase (EC 2.7.1.30) below the lower limit of normal in cultured fibroblasts.","id":"HP:4000211","name":"Reduced glycerol kinase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of vitamin A above the upper limit of normal in the blood circulation.","id":"HP:4000212","name":"Increased circulating vitamin A concentration","obsolete":false,"parents":["HP:0008372"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vitamin A high in blood"}]} +{"alt_ids":[],"definition":"Concentration of hyaluronic acid in the blood circulation above the upper limit of normal.","id":"HP:4000213","name":"Elevated circulating hyaluronic acid concentration","obsolete":false,"parents":["HP:0031210"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyaluronic acid high in blood"}]} +{"alt_ids":[],"definition":"A reduction in the intensity of the breath sound as ascertained by auscultation of the lung.","id":"HP:4000214","name":"Diminished breath sounds","obsolete":false,"parents":["HP:0030829"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased breath sounds"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-adenylate kinase 5 (AK5).","id":"HP:5000000","name":"Anti-AK5 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR).","id":"HP:5000001","name":"Anti-AMPAR antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Amphiphysin.","id":"HP:5000002","name":"Anti-Amphiphysin antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Rho GTPase-activating protein 26 (ARHGAP26).","id":"HP:5000003","name":"Anti-ARHGAP26 antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-Ca antibody"},{"scope":"EXACT","text":"Anti-RhoGTPase-activating protein 26 antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Carbonic anhydrase-related protein VIII (CARPVIII).","id":"HP:5000004","name":"Anti-CARP VIII antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti CARPVIII antibody"},{"scope":"EXACT","text":"Anti-carbonic anhydrase-related protein VIII antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2).","id":"HP:5000005","name":"Anti-CASPR2","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-Caspr2 antibody"},{"scope":"EXACT","text":"Anti-contactin-associated protein-like 2 antibody"}]} +{"alt_ids":["HP:5000041"],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CV2/CRMP5. Anti-CV2/CRMP5 autoantibody is the most commonly detected anti-neuronal autoantibody. Patients with typical paraneoplastic chorea show fully developed chorea in the course of weeks to months with acute inflammation in the striatum.","id":"HP:5000006","name":"Anti-CV2/CRMP5 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-CV2 antibody"},{"scope":"EXACT","text":"Anti-CV2/collapsin response mediator protein (CRMP)5 antibody"},{"scope":"EXACT","text":"Anti-collapsin response-mediated protein 5 antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX).","id":"HP:5000007","name":"Anti-DPPX antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-dipeptidyl-peptidase-like protein 6 antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against FGFR3.","id":"HP:5000008","name":"Anti-FGFR3 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-fibroblast growth factor receptor 3 antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid A receptor, i.e., GABA(A)R.","id":"HP:5000009","name":"Anti-GABA(A)R antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-GABAA R antibody"},{"scope":"EXACT","text":"Anti-gamma amino butyric acid type A receptors antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid B receptor, i.e., GABA(B)R.","id":"HP:5000010","name":"Anti-GABA(B)R antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-gamma-aminobutyric acid B receptor antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65).","id":"HP:5000011","name":"Anti-GAD65 antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-glutamic acid decarboxylase 65 antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Gephyrin.","id":"HP:5000012","name":"Anti-Gephyrin antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glial fibrillary acidic protein (GFAP).","id":"HP:5000013","name":"Anti-GFAP antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-glial fibrillary acidic protein antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Glycine receptor (GlyR).","id":"HP:5000014","name":"Anti-GlyR antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-glycine receptor antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Homer-3.","id":"HP:5000015","name":"Anti-Homer-3 antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-Homer protein homolog 3 antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Hu.","id":"HP:5000016","name":"Anti-Hu antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-ANNA-1 antibody"},{"scope":"EXACT","text":"Anti-Neuronal Nuclear Antibody type-1 antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against immunoglobulin-like cell adhesion molecule 5 (IgLON5).","id":"HP:5000017","name":"Anti-Iglon5 antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-immunoglobulin-like cell adhesion molecule 5 antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against inositol 1,4,5-trisphosphate receptor 1 (ITPR1).","id":"HP:5000018","name":"Anti-ITPR1 antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-inositol 1,4,5-trisphosphate receptor type 1 antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against kelch-like protein 11 (KLHL11).","id":"HP:5000019","name":"Anti-Kelch like protein 11 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-KLHL11 antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against leucine-rich glioma-inactivated 1 (LGI1).","id":"HP:5000020","name":"Anti-LGI1 antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-Anti-leucine-rich glioma-inactivated 1 antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma.","id":"HP:5000021","name":"Anti-Ma antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma2.","id":"HP:5000022","name":"Anti-Ma2 antibody positivity","obsolete":false,"parents":["HP:5000021"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-Ta antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma1.","id":"HP:5000023","name":"Anti-Ma1 antibody positivity","obsolete":false,"parents":["HP:5000021"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 1 (mGluR1).","id":"HP:5000024","name":"Anti-mGluR1 antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-metabotropic glutamate receptor 1 antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 5 (mGluR5).","id":"HP:5000025","name":"Anti-mGluR5 antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-Metabotropic Glutamate Receptor Type 5 antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neurexin-3alpha.","id":"HP:5000026","name":"Anti-neurexin-3alpha antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-neurexin-3alpha antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs).","id":"HP:5000027","name":"Anti-P/Q-type VGCC antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-P/Q-type voltage-gated calcium-channel antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against microtubule-associated protein 1B (MAP1B).","id":"HP:5000028","name":"Anti-MAP1B antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-Purkinje cell cytoplasmic type-2 antibody"},{"scope":"EXACT","text":"Anti-microtubule-associated protein 1B antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against protein kinase Cgamma.","id":"HP:5000029","name":"Anti-PKCgamma antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-Protein kinase C gamma antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ri, an antineuronal antibody.","id":"HP:5000030","name":"Anti-Ri antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-ANNA-2 antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Septin-5.","id":"HP:5000031","name":"Anti-Septin-5 antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against seizure-related 6 homolog like 2 (SEZ6L2).","id":"HP:5000032","name":"Anti-SEZ6L2 antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SOX1. Anti-SOX1 antibodies, also known as antiglial nuclear antibody (AGNA), are specifically found in paraneoplastic neurological disorders. Since SOX1 is expressed in neuronal precursor cells in the developing central nervous system, it has been used as an early marker of neural stem cells.","id":"HP:5000033","name":"Anti-SOX1 antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-Sry-like high mobility group box (SOX) 1 antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr.","id":"HP:5000034","name":"Anti-Tr/DNER antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-delta/notch-like epidermal growth factor-related receptor antibody"},{"scope":"EXACT","text":"PCA-Tr"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the axon initial segment protein tripartite motif 46 (TRIM46).","id":"HP:5000035","name":"Anti-TRIM46 antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against TRIM9/TRIM67.","id":"HP:5000036","name":"Anti-TRIM9/TRIM67 antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Yo.","id":"HP:5000037","name":"Anti-Yo antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-Purkinje cell cytoplasmic antibody 1"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against titin.","id":"HP:5000038","name":"Anti-titin antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Zic family member 4 (ZIC4).","id":"HP:5000039","name":"Anti-Zic4 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased space between the distal radius and distal ulna at sigmoid notch (radioulnar distance more than 6 mm at the sigmoid notch).","id":"HP:5000040","name":"Distal radioulnar joint space widening","obsolete":false,"parents":["HP:0006439"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:5000041","name":"obsolete Anti-CRMP5 antibody positivity","obsolete":true,"parents":[],"replaced_by":["HP:5000006"],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Sj/inositol 1,4,5-trisphosphate receptor.","id":"HP:5000042","name":"Anti-Sj/ITPR1 antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-Sj/inositol 1,4,5-trisphosphate receptor antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dopamine-2 receptor.","id":"HP:5000043","name":"Anti-D2 R antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-dopamine-2 receptors (D2R) antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamate kainate receptor subunit 2 (GluK2).","id":"HP:5000044","name":"Anti-GluK2 antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-glutamate kainate receptor subunit 2 antibody"}]} +{"alt_ids":[],"definition":null,"id":"HP:5000045","name":"obsolete Anti-MuSK antibody positivity","obsolete":true,"parents":[],"replaced_by":["HP:0030210"],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against low-density lipoprotein receptor (Lrp4).","id":"HP:5000046","name":"Anti-Lrp4 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-low-density lipoprotein receptor-related protein 4 antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ryanodine receptor.","id":"HP:5000047","name":"Anti-ryanodine receptor antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-RyR antibody"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4.","id":"HP:5000048","name":"Anti-Kv1.4 antibody","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal linear movement or displacement of the ulnar head relative to the radius at the wrist, indicating instability of the distal radioulnar joint, which is the distal articulation between the radius and ulna, acting as a major weight-bearing joint at the wrist and distributing forces across the forearm bones.","id":"HP:5000049","name":"Distal radioulnar joint translation","obsolete":false,"parents":["HP:0006439"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Voluntary failure to use spoken language (at whatever level attained) in selective social contexts over a period of time.","id":"HP:5200001","name":"Selective mutism","obsolete":false,"parents":["HP:0002300"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally limited range of facial expressions demonstrated by a lack of nuance of facial expression to match specific social situations or an inability to demonstrate a normal range of emotions with one's face.","id":"HP:5200002","name":"Limited repertoire of facial expression","obsolete":false,"parents":["HP:4000087"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced range of facial expressions"}]} +{"alt_ids":[],"definition":"A strong desire to interact and engage with others that is perceived to be inappropriate or excessive in the context of cultural norms.","id":"HP:5200003","name":"Excessive interest in others","obsolete":false,"parents":["HP:5200020"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:5200004","name":"obsolete Reduced response to another's attempt to get direct attention","obsolete":true,"parents":[],"replaced_by":["HP:0012760"],"synonyms":[]} +{"alt_ids":[],"definition":"Persistently abnormally high or low-pitched vocalization or speech than is considered the norm for the context of social situation or significantly different from baseline of the individual.","id":"HP:5200005","name":"Abnormal pitch","obsolete":false,"parents":["HP:5200010"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Persistent abnormalities in the sentence structure in speech, phrases may not be logically connected to each other, gives the impression of rambling. This may be a characteristic feature of the individual or may be a change from the norm of the affected individual.","id":"HP:5200006","name":"Disjointed sentences","obsolete":false,"parents":["HP:0025782"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Loose association"}]} +{"alt_ids":[],"definition":"Consistent use of an invented word that is unique to an individual.","id":"HP:5200007","name":"Neologism","obsolete":false,"parents":["HP:0025773"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Use of language that is overly formal, precise, detailed, or pedantic for the social context.","id":"HP:5200008","name":"Overly formal/pedantic language","obsolete":false,"parents":["HP:0025773"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hand stereotypies within the medial plane of the body.","id":"HP:5200009","name":"Midline hand movements","obsolete":false,"parents":["HP:5200018"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal rise and fall of the voice in speech and vocalization for the context and cultural situation.","id":"HP:5200010","name":"Abnormal Intonation","obsolete":false,"parents":["HP:0031434"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Speech that is abnormally fast or slow as compared to the perceived cultural norm.","id":"HP:5200011","name":"Abnormal speech rate","obsolete":false,"parents":["HP:0002167"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Speech with persistent abnormal rhythm or pattern for the context and cultural situation. This may occur constantly throughout conversations with the person or may occur in periodic bursts lasting several minutes to hours.","id":"HP:5200012","name":"Abnormal speech rhythm","obsolete":false,"parents":["HP:0031434"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Spontaneous production of communicative facial expressions that have poor quality or are perceived as odd or mechanical. This may include inaccurate mimicry of typical facial expressions. These expressions may be difficult to interpret for someone who is not familiar with the individual making the expression.","id":"HP:5200013","name":"Ambiguous facial expression","obsolete":false,"parents":["HP:4000089"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tendency to make facial expressions that are exaggerated and a failure to make subtle facial expressions in a social context when a subtle expression is more appropriate.","id":"HP:5200014","name":"Exaggerated facial expression","obsolete":false,"parents":["HP:4000089"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tendency to produce facial expressions with decreased intensity or expressivity which appear muted or flat.","id":"HP:5200015","name":"Muted facial expression","obsolete":false,"parents":["HP:4000089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flat facial expression"}]} +{"alt_ids":[],"definition":"The state of having abnormal relationships with others. This does not describe specific aspects of one's social aptitudes but rather a state which may come about from these aptitudes, such as lacking peer relationships or lacking close friends.","id":"HP:5200016","name":"Abnormal peer relationships","obsolete":false,"parents":["HP:5200024"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal movements of face and head.","id":"HP:5200017","name":"Stereotypic movements of face and head","obsolete":false,"parents":["HP:0000733"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal movements of the upper extremities.","id":"HP:5200018","name":"Stereotypic upper-extremity movements","obsolete":false,"parents":["HP:0000733"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal movements of the whole body.","id":"HP:5200019","name":"Stereotypic whole-body movements","obsolete":false,"parents":["HP:0000733"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A deviation from typical perceived social engagement with other individuals given the social context. This may manifest as either an excessive interest (e.g., persistent preoccupation with another person, excessive attempts to engage) or an abnormal lack of interest (e.g., minimal or absent social curiosity) in others.","id":"HP:5200020","name":"Abnormal interest in others","obsolete":false,"parents":["HP:0025732"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:5200025"],"definition":"A lack of awareness of social rules in multiple social settings, which are simple or intuitive to others in the same social setting.","id":"HP:5200021","name":"Reduced social insight","obsolete":false,"parents":["HP:5200401"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal social awareness"},{"scope":"EXACT","text":"Abnormal social understanding"}]} +{"alt_ids":[],"definition":"Reduced awareness of expected conventions, which are normal and expected for particular social settings or interactions.","id":"HP:5200022","name":"Reduced awareness of convention","obsolete":false,"parents":["HP:5200021"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The proportion of peripheral blood T lymphocytes expressing HLA-DR (CD3+HLA-DR+) is outside of the reference limit for age.","id":"HP:5200023","name":"Abnormal HLA-DR+ T cell proportion","obsolete":false,"parents":["HP:0025540"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal HLA-DR expression on T cells"},{"scope":"EXACT","text":"Abnormal proportion of DR+ T cells"}]} +{"alt_ids":[],"definition":"The state of having abnormal relationships with others. This does not describe specific aspects of one's social aptitudes but rather a state which may come about from these aptitudes, such as lacking peer relationships, lacking close friends, or having a relational network that is abnormal given one's cultural context.","id":"HP:5200024","name":"Abnormal relationship","obsolete":false,"parents":["HP:0000708"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:5200025","name":"obsolete Abnormal social awareness","obsolete":true,"parents":[],"replaced_by":["HP:5200021"],"synonyms":[]} +{"alt_ids":["HP:5200031","HP:5200032"],"definition":"Reduced use of imitation of tasks or movements of others in play or learning.","id":"HP:5200026","name":"Impaired social imitation","obsolete":false,"parents":["HP:0012760"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Decreased imitation of others"},{"scope":"NARROW","text":"Reduced immediate imitation of others"}]} +{"alt_ids":["HP:4000080"],"definition":"Social initiation refers to the ability to begin interactions with other people. This term refers to a reduction in the frequency with which an individual attempts to begin interactions. The term should only be used for individuals who are assessed to have sufficient intellectual and language skills to interact with others.","id":"HP:5200027","name":"Infrequent social initiations","obsolete":false,"parents":["HP:5200020"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Infrequent attempts to direct the attention of another person"},{"scope":"EXACT","text":"Reduced attempt to get or direct the attention of another person"},{"scope":"NARROW","text":"Reduced social initiation"}]} +{"alt_ids":["HP:5200036","HP:5200053","HP:5200054"],"definition":"A tendency to display responces to social cues that are interpreted (e.g., by family members, peers, or caregivers) as diminished compared to what would be expected based on the developmental stage and cultural context of an individual.","id":"HP:5200028","name":"Reduced responsiveness to social cues","obsolete":false,"parents":["HP:0012760"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Lack of response to verbal cues"},{"scope":"EXACT","text":"Reduced response to social cues"},{"scope":"NARROW","text":"Reduced responsiveness to verbal cues"}]} +{"alt_ids":[],"definition":"A tendency to violate social norms because of a failure to resist temptations or urges in social settings.","id":"HP:5200029","name":"Social disinhibition","obsolete":false,"parents":["HP:0000734","HP:5200123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A communicative abnormality where one's nonverbal and verbal communication are poorly integrated. This may occur when verbal and nonverbal communication are intact alone but are abnormal when used together, or an abnormality in the use of typically integrated communication such as the use of beat gestures during speech.","id":"HP:5200030","name":"Diminished integration of verbal and non-verbal communicative behavior","obsolete":false,"parents":["HP:0034434"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:5200031","name":"obsolete Deferred imitation of others","obsolete":true,"parents":[],"replaced_by":["HP:5200026"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:5200032","name":"obsolete Reduced immediate imitation of others","obsolete":true,"parents":[],"replaced_by":["HP:5200026"],"synonyms":[]} +{"alt_ids":[],"definition":"The proportion of peripheral blood T lymphocytes expressing HLA-DR (CD3+HLA-DR+) is above the upper reference limit for age.","id":"HP:5200033","name":"Increased HLA-DR+ T cell proportion","obsolete":false,"parents":["HP:5200023"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated proportion of DR+ T cells"},{"scope":"EXACT","text":"Elevated proportion of HLA-DR expressing T cells"}]} +{"alt_ids":[],"definition":"The proportion of peripheral blood T lymphocytes expressing HLA-DR (CD3+HLA-DR+) is below the upper reference limit for age.","id":"HP:5200034","name":"Decreased HLA-DR+ T cell proportion","obsolete":false,"parents":["HP:5200023"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced proportion of DR+ T cells"},{"scope":"EXACT","text":"Reduced proportion of HLA-DR expressing T cells"}]} +{"alt_ids":[],"definition":"Failure of a child to engage with peers games that involve creating imaginary scenarios or narratives, for instance, in which children pretend to be characters or act out adventurous scenarios.","id":"HP:5200035","name":"Reduced cooperative imaginative play","obsolete":false,"parents":["HP:5200105","HP:5200136"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced collaborative imaginative play"}]} +{"alt_ids":[],"definition":null,"id":"HP:5200036","name":"obsolete Reduced responsiveness to verbal cues","obsolete":true,"parents":[],"replaced_by":["HP:5200028"],"synonyms":[]} +{"alt_ids":[],"definition":"The observation that an affected person tends not to provide situationally appropriate responses to other people in times when these people are in emotional need. For instance, failure to provide comfort to a person who is sad or crying.","id":"HP:5200037","name":"Lack of expressed empathy","obsolete":false,"parents":["HP:0012760","HP:5200120"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lack of empathy"},{"scope":"EXACT","text":"Lack of expressed sympathy"},{"scope":"EXACT","text":"Reduced empathic arousal"},{"scope":"EXACT","text":"Reduced sympathetic expression"}]} +{"alt_ids":[],"definition":"Speech that is abnormally slow as compared to the perceived cultural norm.","id":"HP:5200038","name":"Bradylalia","obsolete":false,"parents":["HP:5200011"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bradylogia"},{"scope":"EXACT","text":"Slow speech"}]} +{"alt_ids":[],"definition":"Speech which is persistently abnormally and noticeably loud or high volume for the social and cultural context and is not due to a structural or muscular abnormality. Those around the person often consider them to be shouting.","id":"HP:5200039","name":"Excessively loud speech","obsolete":false,"parents":["HP:5200043"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Speech too loud for context"}]} +{"alt_ids":[],"definition":"Speech which is persistently abnormally quiet, or of low in volume for the social and cultural context. This includes persistent and inappropriate whispering. It is not due to a medical or surgical condition that results in hoarseness, nor structural or muscular abnormality that results in low speech volume.","id":"HP:5200040","name":"Excessively quiet speech","obsolete":false,"parents":["HP:5200043"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excessively quiet voice"},{"scope":"EXACT","text":"Excessively soft voice"},{"scope":"EXACT","text":"Speech to soft for context"}]} +{"alt_ids":[],"definition":"Speech that is abnormally loud or quiet for the social and cultural context in which it is spoken. It is clinically noted by others, including family, friends, or clinical providers.","id":"HP:5200043","name":"Abnormal speech volume","obsolete":false,"parents":["HP:0002167"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality in one's ability to control their attention towards a specific subject or task can include difficulties in changing or maintaining attention.","id":"HP:5200044","name":"Reduced attention regulation","obsolete":false,"parents":["HP:0100543"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced ability to control, or a failure to resist a temptation, urge, or impulse.","id":"HP:5200045","name":"Reduced impulse control","obsolete":false,"parents":["HP:0000708"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Impaired self-restraint"}]} +{"alt_ids":[],"definition":"Abnormal sensory behavior, including avoiding or seeking sensory input or difficulty modulating sensory stimuli.","id":"HP:5200046","name":"Sensory behavioral abnormality","obsolete":false,"parents":["HP:0000708"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"When one uses gestures that are unique to them and have no apparent meaning to others.","id":"HP:5200047","name":"Idiosyncratic gesture","obsolete":false,"parents":["HP:0034481"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Atypical focus on arranging, balancing, or positioning objects; may be atypical in focus or intensity.","id":"HP:5200049","name":"Atypical sorting","obsolete":false,"parents":["HP:0000722"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Arranging"},{"scope":"EXACT","text":"Ordering"}]} +{"alt_ids":[],"definition":"Checking behavior that is excessive for the situational context.","id":"HP:5200050","name":"Excessive checking","obsolete":false,"parents":["HP:0000722"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Checking behaviors"},{"scope":"EXACT","text":"Checking behaviours"}]} +{"alt_ids":[],"definition":"Hand washing behavior that is excessive for the situational context.","id":"HP:5200051","name":"Excessive hand washing","obsolete":false,"parents":["HP:0000722"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Distress in response to minor changes in one's environmental expectations.","id":"HP:5200052","name":"Resistance to trivial environmental changes","obsolete":false,"parents":["HP:5200130"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:5200053","name":"obsolete Reduced nonverbal responsiveness to verbal cues","obsolete":true,"parents":[],"replaced_by":["HP:5200028"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:5200054","name":"obsolete Reduced verbal responsiveness to verbal cues","obsolete":true,"parents":[],"replaced_by":["HP:5200028"],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced use of speech-integrated gestures such as the use of beat gestures.","id":"HP:5200055","name":"Reduced co-speech gestures","obsolete":false,"parents":["HP:4000081","HP:5200030"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence or reduction in the use of head nodding to indicate agreement or head shaking to indicate disagreement.","id":"HP:5200056","name":"Limited head nodding or shaking","obsolete":false,"parents":["HP:4000081"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence or reduction in the use of pointing to request or direct another's attention.","id":"HP:5200057","name":"Limited pointing","obsolete":false,"parents":["HP:4000081"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A decreased tolerance to sensory stimuli that triggers emotional and/or physical distress.","id":"HP:5200058","name":"Sensory hypersensitivity","obsolete":false,"parents":["HP:5200046"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased tolerance to sensory stimuli due to diminished sensory ability.","id":"HP:5200059","name":"Sensory hyposensitivity unexplained by sensory deficit","obsolete":false,"parents":["HP:5200046"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hyperresponsive to sound that is abnormal in intensity and/or frequency.","id":"HP:5200060","name":"Auditory hypersensitivity","obsolete":false,"parents":["HP:5200058"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Loudness intolerance"},{"scope":"EXACT","text":"Sensitivity to noise"}]} +{"alt_ids":[],"definition":"A decreased tolerance to physical touch.","id":"HP:5200061","name":"Tactile hypersensitivity","obsolete":false,"parents":["HP:5200058"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pursuit of specific sounds or noises that is abnormal in intensity and/or frequency.","id":"HP:5200062","name":"Auditory sensory seeking","obsolete":false,"parents":["HP:4000079"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pursuit of a particular taste that is abnormal in intensity and/or frequency.","id":"HP:5200063","name":"Gustatory sensory seeking","obsolete":false,"parents":["HP:4000079"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pursuit of specific scents, smells, or fragrances that is abnormal in intensity and/or frequency.","id":"HP:5200064","name":"Olfactory sensory seeking","obsolete":false,"parents":["HP:4000079"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Smell seeking"}]} +{"alt_ids":[],"definition":"Pursuit of a specific texture that is abnormal in intensity and/or frequency.","id":"HP:5200065","name":"Tactile sensory seeking","obsolete":false,"parents":["HP:4000079"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pursuit of vestibular stimulation that is abnormal in intensity and/or frequency.","id":"HP:5200066","name":"Vestibular sensory seeking","obsolete":false,"parents":["HP:4000079"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pursuit visual stimulation by looking at specific sights, images, and/or colors that is abnormal in intensity and/or frequency.","id":"HP:5200067","name":"Visual sensory seeking","obsolete":false,"parents":["HP:4000079"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tendency to ask questions that are overly personal or otherwise inappropriate in the social situation in which they are asked.","id":"HP:5200068","name":"Socially inappropriate questioning","obsolete":false,"parents":["HP:5200029"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An excessive frequency of spinning one's body.","id":"HP:5200069","name":"Spinning","obsolete":false,"parents":["HP:5200019","HP:5200066"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Twirling"}]} +{"alt_ids":[],"definition":"Repetition of borrowed words or phrases outside of the context in which they were originally heard. E.g., scripting from TV shows or movies.","id":"HP:5200071","name":"Delayed Echolalia","obsolete":false,"parents":["HP:0010529"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Immediate repetition of another person's speech.","id":"HP:5200072","name":"Immediate Echolalia","obsolete":false,"parents":["HP:0010529"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excessive cleaning of surfaces, living space, or environment that is excessive for the situational context.","id":"HP:5200073","name":"Excessive cleaning","obsolete":false,"parents":["HP:0000722"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:5200100","name":"Facial expressions not directed to others","obsolete":false,"parents":["HP:4000087"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:5200101","name":"Limited Repertoire of gestures","obsolete":false,"parents":["HP:4000090"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced production of smiles during engagement with an interactive parent, caregiver, or peer.","id":"HP:5200102","name":"Reduced social smiling","obsolete":false,"parents":["HP:0012434","HP:0012760"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:5200103","name":"obsolete Reduced social responsiveness","obsolete":true,"parents":[],"replaced_by":["HP:0012760"],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality in a child's ability play.","id":"HP:5200104","name":"Abnormal play","obsolete":false,"parents":["HP:0000708"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced or lack of pretending in play (does not assign abstract properties to objects, use invisible objects, or use objects in nonliteral ways other than their intended purpose in play).","id":"HP:5200105","name":"Reduced imaginative play skills","obsolete":false,"parents":["HP:5200104"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Use of objects in atypical, unimaginitive ways other than for which they are intended (banging, throwing, shaking, sorting, lining up, spinning).","id":"HP:5200108","name":"Nonfunctional or atypical use of objects in play","obsolete":false,"parents":["HP:0031432"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:5200137"],"definition":"Lower than typical number of attempts to engage peers in conversation, play, or other interactions.","id":"HP:5200110","name":"Infrequent social engagement with peers","obsolete":false,"parents":["HP:5200020"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aloneness"},{"scope":"EXACT","text":"Infrequent attempting to engage peers"},{"scope":"EXACT","text":"Marked preference for solitude"},{"scope":"EXACT","text":"Poor social engagement"},{"scope":"EXACT","text":"Prefers being alone"}]} +{"alt_ids":[],"definition":"An atypically high tendency to avoid interpersonal exchanges characterizing by sharing of personal feelings, expressions of understanding, affirmation, and demonstrations of caring.","id":"HP:5200111","name":"Avoidance of emotional intimacy","obsolete":false,"parents":["HP:5200120"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An atypically low tendency to offer information as a means to initiate or sustain social interactions or direct another's attention.","id":"HP:5200113","name":"Failure to offer information to initiate social interaction","obsolete":false,"parents":["HP:5200027"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:5200116","name":"Difficulty understanding nonliteral meaning of conversation","obsolete":false,"parents":["HP:5200021"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:5200117","name":"Poor recognition of injustice","obsolete":false,"parents":["HP:5200021"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A difficulty in recognizing or interpreting the emotional states of other individuals.","id":"HP:5200118","name":"Difficulty recognizing another's emotions","obsolete":false,"parents":["HP:5200021","HP:5200120"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:5200119","name":"Difficulty understanding humor","obsolete":false,"parents":["HP:5200021"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An atypically low production of emotion social communications including those produced by communicative behaviors such as facial expressions, body language, and verbal communication.","id":"HP:5200120","name":"Abnormal social emotional interactions","obsolete":false,"parents":["HP:0025732"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormality in emotional social interactions"}]} +{"alt_ids":[],"definition":"A tendency to interact with others as if they are objects with functional purpose rather than engaging in social/emotional interactions.","id":"HP:5200121","name":"Objectification of others","obsolete":false,"parents":["HP:5200120"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Treats people like objects"}]} +{"alt_ids":[],"definition":null,"id":"HP:5200122","name":"obsolete Difficulty communicating emotions","obsolete":true,"parents":[],"replaced_by":["HP:0031433"],"synonyms":[]} +{"alt_ids":[],"definition":"An atypical understanding or application of social rules and conventions that guide interpersonal behavior. This may include reduced awareness of social norms or rigid, context-insensitive adherence to them.","id":"HP:5200123","name":"Abnormal response to social norms","obsolete":false,"parents":["HP:0025732"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Failure to follow social norms (shared standards of acceptable behavior) even though one has awareness of these norms and the ability to follow them.","id":"HP:5200124","name":"Indifference to social norms","obsolete":false,"parents":["HP:5200123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Aggression that is directed towards other individuals, as opposed to oneself.","id":"HP:5200125","name":"Aggression towards others","obsolete":false,"parents":["HP:0000718"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Aggression that is directed towards caregivers.","id":"HP:5200126","name":"Aggression towards caregivers","obsolete":false,"parents":["HP:5200125"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Aggression that is directed towards non-caregivers.","id":"HP:5200127","name":"Aggression toward non-caregivers","obsolete":false,"parents":["HP:5200125"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:5200128","name":"obsolete Deficit applying language skills across context","obsolete":true,"parents":[],"replaced_by":["HP:0034434"],"synonyms":[]} +{"alt_ids":[],"definition":"Insistence on rituals which are self-imposed on a person's environment including directing the behavior of those around them.","id":"HP:5200129","name":"Abnormal rituals","obsolete":false,"parents":["HP:5200130"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:5200130","name":"Insistence on sameness","obsolete":false,"parents":["HP:5200241"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:5200131","name":"obsolete Reduced use of language for social purposes","obsolete":true,"parents":[],"replaced_by":["HP:0012760"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:5200132","name":"Atypical sensory examination of objects","obsolete":false,"parents":["HP:4000079","HP:5200108"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:5200133","name":"Intense attachment to unusual objects","obsolete":false,"parents":["HP:5200108"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An excessive frequency of jumping in place.","id":"HP:5200134","name":"Jumping","obsolete":false,"parents":["HP:5200019","HP:5200066"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bouncing"},{"scope":"EXACT","text":"Hopping"},{"scope":"EXACT","text":"Pogo-ing"}]} +{"alt_ids":[],"definition":"Failure to acquire the ability to play cooperatively, a type of play in whichchildren work together towards a common goal and in which a child displays interest both in the play and in the the other child or children involved in playing. This ability is observed in neurotypical children from the age of 3 to 6 years.","id":"HP:5200135","name":"Delay in the acquisition of cooperative play skills","obsolete":false,"parents":["HP:0012434"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced responses to other people's emotions and/or a lack of modulation of behaviour according to social context.","id":"HP:5200136","name":"Reduced social reciprocity","obsolete":false,"parents":["HP:0012760"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Reduced friendship reciprocity"},{"scope":"EXACT","text":"Reduced social reciprocity with peers"}]} +{"alt_ids":[],"definition":null,"id":"HP:5200137","name":"obsolete Infrequent social engagement with peers","obsolete":true,"parents":[],"replaced_by":["HP:5200110"],"synonyms":[]} +{"alt_ids":[],"definition":"Perception of smell without olfactory stimulus.","id":"HP:5200200","name":"Olfactory hallucination","obsolete":false,"parents":["HP:0000738"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hallucinations of smell"},{"scope":"EXACT","text":"Smell hallucination"}]} +{"alt_ids":[],"definition":"Perception of taste without gustatory stimulus.","id":"HP:5200201","name":"Gustatory hallucination","obsolete":false,"parents":["HP:0000738"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hallucinations of taste"},{"scope":"EXACT","text":"Taste hallucination"}]} +{"alt_ids":[],"definition":"Abnormal perception of reality is characterized by an abnormal or inaccurate experience of external stimuli.","id":"HP:5200202","name":"Abnormal interpretation of external stimuli","obsolete":false,"parents":["HP:5200423"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of hallucination that involves the perception of distorted or abnormal sensations related to one's body position or movement.","id":"HP:5200203","name":"Proprioceptive hallucination","obsolete":false,"parents":["HP:5200214"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A perceptual experience in which an individual's perception of sensory stimuli is altered or disrupted in some way, resulting in abnormal or distorted sensory perceptions despite the presence of actual external stimuli.","id":"HP:5200204","name":"Disturbed perception with a stimulus","obsolete":false,"parents":["HP:5200202"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Perceptual experiences that involve misinterpretations or distortions of sensory stimuli.","id":"HP:5200205","name":"Illusions","obsolete":false,"parents":["HP:5200204"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Instances in which individuals fail to perceive or notice salient or significant stimuli in their visual field due to a lack of attention.","id":"HP:5200207","name":"Inattentiveness illusion","obsolete":false,"parents":["HP:5200205"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Perceptual distortions or misinterpretations of sensory information arise as a result of the individual's emotional or affective state.","id":"HP:5200208","name":"Illusions due to affect","obsolete":false,"parents":["HP:5200205"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Apophenia is a psychological phenomenon in which individuals perceive familiar patterns or meaningful images in random or ambiguous stimuli, such as clouds, shadows, or inanimate objects.","id":"HP:5200209","name":"Pareidolia","obsolete":false,"parents":["HP:5200205"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A phenomenon in which an individual perceives themselves from an external perspective, as if they are observing their own body or self from a location outside of their physical body.","id":"HP:5200210","name":"Autoscopy","obsolete":false,"parents":["HP:5200216"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A mental phenomenon is when an individual can vividly visualize or recall visual information from memory with exceptional detail and accuracy. These images are experienced subjectively by the individual, meaning they are not physically present or visible to others.","id":"HP:5200211","name":"Subjective eidetic images","obsolete":false,"parents":["HP:5200423"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Photographic memory"}]} +{"alt_ids":[],"definition":"A increase in the tendency of a person to seek or maintain social connections or interactions with others compared to previous norms for an individual.","id":"HP:5200212","name":"Amplification of social interactions","obsolete":false,"parents":["HP:5200243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Amplified socialising"},{"scope":"EXACT","text":"Amplified socializing"},{"scope":"EXACT","text":"Increase in social interactions"}]} +{"alt_ids":[],"definition":"A reduction in the tendency of a person to display emotional responsiveness or empathy towards others during interpersonal interactions as compared to that person's previous norm.","id":"HP:5200213","name":"Diminishment of emotional responsiveness","obsolete":false,"parents":["HP:5200310"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Diminishment of empathy"}]} +{"alt_ids":[],"definition":"A type of hallucination that involves the perception of sensory experiences related to the body or its internal organs, systems, or processes. It is a hallucinatory experience that primarily affects bodily sensations rather than external sensory perceptions.","id":"HP:5200214","name":"Somatic hallucination","obsolete":false,"parents":["HP:0000738"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hallucination of bodily sensation"},{"scope":"EXACT","text":"Somatic bodily hallucination"}]} +{"alt_ids":[],"definition":"A type of hallucination that involves the perception of internal bodily sensations or processes that do not actually exist.","id":"HP:5200215","name":"Visceral hallucination","obsolete":false,"parents":["HP:5200214"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Temporary alteration of the awareness of reality or self-perception.","id":"HP:5200216","name":"Abnormal perceptual state","obsolete":false,"parents":["HP:5200202"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A psychological experience or symptom characterized by a sense of detachment or estrangement from oneself or one's surroundings.","id":"HP:5200217","name":"Depersonalization","obsolete":false,"parents":["HP:5200216"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A subjective experience in which an individual feels a sense of detachment or estrangement from their surroundings, leading to a distorted perception of the external world. It is characterized by a feeling of unreality or unfamiliarity with one's environment, as if things are dreamlike, artificial, or lacking in significance.","id":"HP:5200218","name":"Derealization","obsolete":false,"parents":["HP:5200216"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Diminished mirroring or reflection of facial expressions in another person during social interactions.","id":"HP:5200220","name":"Decreased facial expression mirroring","obsolete":false,"parents":["HP:0012760","HP:4000075"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased facial expression reciprocity"},{"scope":"EXACT","text":"Lack of facial mirroring"}]} +{"alt_ids":[],"definition":"A reduction in the tendency of a person to accept casual physical contact with others as compared to that person's previous norm.","id":"HP:5200221","name":"Diminishment of comfort with casual physical contact","obsolete":false,"parents":["HP:5200310"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Discomfort with physical contact"},{"scope":"EXACT","text":"Discomfort with physical touch"},{"scope":"EXACT","text":"Touch avoidance"}]} +{"alt_ids":[],"definition":"The experience of sudden cessation of the thought/thinking process, the person often describes the mind going blank and there is frequently a period of silence that is accompanied by a perplexed state, not understanding what transpired. Some may describe the experience as an abrupt emptying of the mind or the belief that an external force removed their thoughts from their head.","id":"HP:5200227","name":"Thought blocking","obsolete":false,"parents":["HP:5200419"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thought withdrawal"},{"scope":"EXACT","text":"Thought-blocking"}]} +{"alt_ids":[],"definition":"Threat-based cognitive biases result in a skewed perception, experience, or processing of internal or external stimuli.","id":"HP:5200230","name":"Maladaptive fear-related cognitions","obsolete":false,"parents":["HP:5200401"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal fear"},{"scope":"EXACT","text":"Abnormal fear-related cognitions"}]} +{"alt_ids":[],"definition":"A heightened alertness is characterized by a broad awareness and/or excessive scanning of environmental stimuli.","id":"HP:5200231","name":"Hypervigilance","obsolete":false,"parents":["HP:0100852"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Extreme, irrational, and persistent fears of certain objects, situations, activities, or persons can impede functioning in day-to-day life.","id":"HP:5200232","name":"Phobia","obsolete":false,"parents":["HP:5200230"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A state characterized by future-oriented worry, accompanied by negative affect and autonomic arousal.","id":"HP:5200233","name":"Anticipatory anxiety","obsolete":false,"parents":["HP:0000739"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Successive thoughts and speech are easily diverted by external stimuli or internal superficial associations. Unable to maintain a constant train of thought and lose themselves in side issues, losing the thread and are unable to recover it. Superficial connections appear to drive the subject matter.","id":"HP:5200234","name":"Flight of ideas","obsolete":false,"parents":["HP:0025781"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Clang associations"},{"scope":"EXACT","text":"Distracted speech"},{"scope":"EXACT","text":"Rhyming puns"}]} +{"alt_ids":[],"definition":null,"id":"HP:5200235","name":"obsolete Disordered formal thought process","obsolete":true,"parents":[],"replaced_by":["HP:0025769"],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:5200237","name":"Pronunciation difficulties","obsolete":false,"parents":["HP:0009088"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:5200238","name":"Vowel expressive impediment","obsolete":false,"parents":["HP:5200237"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:5200239","name":"Consonant expressive impediment","obsolete":false,"parents":["HP:5200237"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:5200240","name":"Delayed spoken language comprehension","obsolete":false,"parents":["HP:0010863"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delayed verbal comprehension"}]} +{"alt_ids":[],"definition":"A repeating behavior that is either immediately unproductive or has negative long-term consequences. This includes harmful coping mechanisms such as addictive behavior and failure to control impulses and compulsions.","id":"HP:5200241","name":"Recurrent maladaptive behavior","obsolete":false,"parents":["HP:0000708"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A cognitive distortion is a maladaptive, exaggerated, or irrational thought pattern.","id":"HP:5200242","name":"Cognitive distortion","obsolete":false,"parents":["HP:0025785"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An alternation in the habits and emotional tendencies of an individual with a change in behavior that is typically noticed by family members or peers.","id":"HP:5200243","name":"Abnormal change in social behavior","obsolete":false,"parents":["HP:0012433"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly in demeanor, which refers to the outward behavior, manner, or conduct of a person. It encompasses how an individual presents themselves to others in terms of attitude, posture, and general comportment.","id":"HP:5200261","name":"Abnormal demeanor","obsolete":false,"parents":["HP:0000708"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An excessive increase in motivated and goal directed as well as non-goal directed behaviors that are usually accompanied by elevated energy and interest that allows individuals to get started, be energized to perform a sustained and directed action. The increase is often disruptive and typically results in unfavorable consequences.","id":"HP:5200263","name":"Abnormally increased volition","obsolete":false,"parents":["HP:0025780"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormally increased energy"},{"scope":"EXACT","text":"Abnormally increased motivation"},{"scope":"EXACT","text":"Abnormally increased personal volitional state"}]} +{"alt_ids":[],"definition":"Speech pattern that is excessive and intense that often imparts a sense of urgency, the individual appears to be driven to communicate with many words that are spoken very quickly and may run into each other. The person is frequently difficult to interrupt and appears to not respond to social cues for the conversational partner(s) to take their turn in speaking.","id":"HP:5200265","name":"Pressured speech","obsolete":false,"parents":["HP:0031434"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excessive speech output"}]} +{"alt_ids":[],"definition":"The sensation of having heavy arms and legs, or feeling a heaviness in the limbs.","id":"HP:5200267","name":"Leaden paralysis","obsolete":false,"parents":["HP:5200214"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:5200269","name":"obsolete Abnormal thought pattern","obsolete":true,"parents":[],"replaced_by":["HP:0025779"],"synonyms":[]} +{"alt_ids":[],"definition":"Persistently exaggerated feelings and thoughts of an inflated sense of self-importance, superiority, uniqueness, or invulnerability. The affected individual may project arrogance with a dismissive behavioral pattern towards others the individual deems inferior.","id":"HP:5200270","name":"Grandiosity","obsolete":false,"parents":["HP:5200242"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Persistent and excessive feelings of despair with an overwhelming lack of hope. While hopelessness is primarily a personal experience, the sense of hopelessness becomes pervasive and affects most aspects of the personal experience in relation to the world. For example the person may communicate a sense of hopelessness for family and friends (who themselves do not experience hopelessness), as well as the world in general.","id":"HP:5200271","name":"Hopelessness","obsolete":false,"parents":["HP:5200242"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Exaggerated pessimism"},{"scope":"EXACT","text":"Hopeless"}]} +{"alt_ids":[],"definition":"A negative emotional state characterized by sadness, unhappiness, or sorrow that is excessive in intensity, duration, or resistance to self-regulation compared with culturally appropriate norms or the individual's usual emotional range. It may arise spontaneously or in response to significant life events, but when reactive, it is disproportionate to or persists beyond what is typically expected for the context. Pathological sadness can be associated with feelings of hopelessness, helplessness, anhedonia, and a pessimistic outlook, but these features are not invariably present. It may also be accompanied by increased tearfulness, low energy, cognitive difficulties such as impaired concentration, and somatic changes including disrupted sleep or appetite.","id":"HP:5200273","name":"Pathological sadness","obsolete":false,"parents":["HP:0031467"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Abnormal grief response"},{"scope":"EXACT","text":"Depressed mood"},{"scope":"EXACT","text":"Down in the dumps"},{"scope":"RELATED","text":"Dysthymia"},{"scope":"RELATED","text":"Emotional pain"},{"scope":"EXACT","text":"Feeling hopeless all the time"},{"scope":"EXACT","text":"Has the blues"},{"scope":"NARROW","text":"Melancholy"},{"scope":"EXACT","text":"Morbid sadness"},{"scope":"RELATED","text":"Profound despair"},{"scope":"RELATED","text":"Profound sorrow"},{"scope":"BROAD","text":"Profound unhappiness"},{"scope":"EXACT","text":"Unrelenting despondency"}]} +{"alt_ids":[],"definition":null,"id":"HP:5200275","name":"obsolete Abnormal motivation","obsolete":true,"parents":[],"replaced_by":["HP:0025780"],"synonyms":[]} +{"alt_ids":[],"definition":"There has been a noticeable decrease in the need for sleep, where individuals feel refreshed even with minimal or no sleep.","id":"HP:5200276","name":"Decreased need for sleep","obsolete":false,"parents":["HP:0002360"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Conditions of abnormal and difficult respiration during sleep, including chronic snoring and sleep apnea.","id":"HP:5200283","name":"Sleep-related breathing disorders","obsolete":false,"parents":["HP:0002360"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Difficult respiration during sleep"}]} +{"alt_ids":[],"definition":null,"id":"HP:5200284","name":"obsolete Bruxism during sleep","obsolete":true,"parents":[],"replaced_by":["HP:0003763"],"synonyms":[]} +{"alt_ids":[],"definition":"Repeated occurrence of nightmares that cause clinically significant distress or impairment in social, occupational or other important areas of functioning, which are not attributable to the physiological effects of a substance (e.g. drug abuse or medication) and which cannot be adequately explained by coexisting mental and medical disorders.","id":"HP:5200287","name":"Recurrent distressing nightmares","obsolete":false,"parents":["HP:0025184","HP:5200299"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disturbing dreams"},{"scope":"RELATED","text":"Nightmare disorder"}]} +{"alt_ids":[],"definition":"Eating during sleep with limited to no recall of involuntary eating while asleep.","id":"HP:5200288","name":"Sleep-related eating behavior","obsolete":false,"parents":["HP:0025184","HP:0025235","HP:0100738"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Consuming food while asleep"},{"scope":"EXACT","text":"Nocturnal sleep-related eating disorder (NS-RED)"},{"scope":"EXACT","text":"SRED"},{"scope":"EXACT","text":"Sleep eating"},{"scope":"RELATED","text":"Sleep-related eating disorder"}]} +{"alt_ids":[],"definition":"Sudden onset of extreme drowsiness or falling asleep during the day for a short period of time.","id":"HP:5200289","name":"Microsleep","obsolete":false,"parents":["HP:0025288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short duration sleep"}]} +{"alt_ids":[],"definition":"Sleep disorder in which one hears a loud noise or explosive crashing sound in one's head. The sound is not real or heard by anyone else. The episode typically happens suddenly, either when beginning to fall asleep or when waking up during the night.","id":"HP:5200290","name":"Exploding head syndrome","obsolete":false,"parents":["HP:4000063"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"REM Sleep Behavior Disorder (RBD) is a chronic sleep condition characterized by dream enactment and loss of REM atonia.","id":"HP:5200291","name":"REM sleep behavior disorder","obsolete":false,"parents":["HP:5200299","HP:5200300"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"RBD"},{"scope":"EXACT","text":"REM sleep behaviour disorder"},{"scope":"EXACT","text":"Rapid eye movement sleep behavior disorder"},{"scope":"EXACT","text":"Rapid eye movement sleep behaviour disorder"},{"scope":"EXACT","text":"Sleep enactment"}]} +{"alt_ids":[],"definition":"Sleep that is subjectively reported as unrefreshing even though the duration is adequate.","id":"HP:5200292","name":"Non-restorative sleep","obsolete":false,"parents":["HP:4000064"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Non-refreshing sleep"},{"scope":"EXACT","text":"Unrefreshing sleep"},{"scope":"EXACT","text":"Waking up tired"}]} +{"alt_ids":[],"definition":"A parasomnia that occurs with awareness and recollection during the transition between sleep and and awake states.","id":"HP:5200293","name":"Sleep-wake transition abnormality","obsolete":false,"parents":["HP:0025234"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disturbance during transitions between sleep and wake states"},{"scope":"EXACT","text":"Sleep state switching"},{"scope":"EXACT","text":"Sleep-wake transition disorders"}]} +{"alt_ids":[],"definition":"Unintentional sexual behavior during sleep, such as masturbation, initiation of sex, or making sexual noises, is known as sexsomnia. Sexsomnia predominantly occurs during NREM sleep.","id":"HP:5200294","name":"Sexsomnia","obsolete":false,"parents":["HP:0025235"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sexual behavior during sleep"},{"scope":"EXACT","text":"Sexual behaviour during sleep"}]} +{"alt_ids":[],"definition":"Repetitive, stereotyped limb movements occurring during sleep, typically involving brief flexion of the toes, ankles, knees, or hips. These movements recur at regular intervals, often every 20-40 seconds, and may cause sleep fragmentation or daytime fatigue. PLMS commonly co-occurs with restless legs syndrome but may also occur independently.","id":"HP:5200295","name":"Periodic limb movements of sleep","obsolete":false,"parents":["HP:5200300"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Rhythmic limb movements during sleep"}]} +{"alt_ids":[],"definition":"Abnormal transition of consciousness from sleeping to wakefulness.","id":"HP:5200296","name":"Abnormal transition from sleep to wakefulness","obsolete":false,"parents":["HP:5200293"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal hypnopompia"},{"scope":"EXACT","text":"Abnormality waking up"}]} +{"alt_ids":[],"definition":"Abnormal transition of consciousness from wakefulness to sleep.","id":"HP:5200297","name":"Abnormal transition from wakefulness to sleep","obsolete":false,"parents":["HP:5200293"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal falling asleep"},{"scope":"EXACT","text":"Abnormal hypnagogia"}]} +{"alt_ids":[],"definition":"Interruptions during the various stages of sleep.","id":"HP:5200298","name":"Abnormal sleep architecture","obsolete":false,"parents":["HP:0002360"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sleep architecture disturbances"},{"scope":"EXACT","text":"Sleep stage disturbances"}]} +{"alt_ids":[],"definition":"Parasomnia occurs during REM sleep.","id":"HP:5200299","name":"REM parasomnia","obsolete":false,"parents":["HP:0002494","HP:0025234"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disturbance in REM"},{"scope":"EXACT","text":"Rapid eye movement parasomnia"}]} +{"alt_ids":[],"definition":"Periodic Limb Movement Disorder, also known as Sleep-Related Myoclonus Syndrome or Nocturnal Myoclonus Syndrome, refers to the periodic and stereotypic movements of the legs or upper limbs during sleep.","id":"HP:5200300","name":"Abnormal movement during sleep","obsolete":false,"parents":["HP:0025234"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Nocturnal myoclonus syndrome"},{"scope":"EXACT","text":"Periodic limb movement disorder"}]} +{"alt_ids":[],"definition":"Decreased duration of phase N1 of nonrapid eye movement (NREM) sleep.","id":"HP:5200304","name":"Short N1 sleep","obsolete":false,"parents":["HP:5200362"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short light sleep of NREM"}]} +{"alt_ids":[],"definition":"Paradoxical insomnia is a condition in which individuals with a normal or near-normal sleep macrostructure tend to severely underestimate the quantity and quality of their sleep.","id":"HP:5200305","name":"Paradoxical insomnia","obsolete":false,"parents":["HP:0002360"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disturbance in perception related to sleep"},{"scope":"EXACT","text":"Sleep misperception"},{"scope":"EXACT","text":"Sleep state misperception"}]} +{"alt_ids":[],"definition":"Decreased duration of phase N2 of nonrapid eye movement (NREM) sleep.","id":"HP:5200307","name":"Short N2 sleep","obsolete":false,"parents":["HP:5200362"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short subdued state of NREM"}]} +{"alt_ids":[],"definition":"Decreased duration of phase N3 of nonrapid eye movement (NREM) sleep.","id":"HP:5200309","name":"Short N3 sleep","obsolete":false,"parents":["HP:5200362"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short slow wave sleep"}]} +{"alt_ids":[],"definition":"A reduction in the tendency of a person to seek or maintain social connections or interactions with others compared to previous norms for an individual.","id":"HP:5200310","name":"Diminishment of social interactions","obsolete":false,"parents":["HP:5200243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced, declined or lessened social interactions"}]} +{"alt_ids":[],"definition":"An increase in the tendency of a person to share information or emotions compared to that person's previous norms.","id":"HP:5200311","name":"Amplification of interpersonal communication","obsolete":false,"parents":["HP:5200212"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Heightened, amplified social expression and social connectedness"},{"scope":"EXACT","text":"Increase in interpersonal communication"}]} +{"alt_ids":[],"definition":"Increased frequency or duration in social outings and interactions as part of relationship-seeking or maintenance compared to the previous norms of an individual. May be considered to be overfamiliar and have a tendency to engage strangers in a presumptive manner.","id":"HP:5200315","name":"Amplification of relationship seeking","obsolete":false,"parents":["HP:5200212"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extraversion"},{"scope":"EXACT","text":"Increased seeking of relationships"}]} +{"alt_ids":[],"definition":"A reduction in the tendency of a person to share information or emotions compared to that person's previous norms.","id":"HP:5200316","name":"Diminishment of interpersonal communication","obsolete":false,"parents":["HP:5200310"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"A decline or reduced social expression and social connectedness"},{"scope":"EXACT","text":"Decreased interpersonal communication"}]} +{"alt_ids":[],"definition":"A reduction in the tendency of a person to seek new interpersonal relationships or maintain existing relationships.","id":"HP:5200320","name":"Diminishment of relationship seeking","obsolete":false,"parents":["HP:5200310"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased seeking of relationships"},{"scope":"EXACT","text":"Introversion"},{"scope":"EXACT","text":"Self-isolation"},{"scope":"EXACT","text":"Social isolation"}]} +{"alt_ids":["HP:0030214"],"definition":"An abnormal increase of libido (sexual desire), typically accompanied by a higher frequency of sexual activity compared to from a person's previous norm.","id":"HP:5200321","name":"Amplification of sexual behavior","obsolete":false,"parents":["HP:0025793","HP:5200212"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypersexuality"},{"scope":"EXACT","text":"Increase in sexual behavior"},{"scope":"EXACT","text":"Increased sexual behavior"},{"scope":"EXACT","text":"Increased sexual behaviour"}]} +{"alt_ids":[],"definition":"An increase in the tendency of a person to express emotions compared to that person's previous norm.","id":"HP:5200322","name":"Amplification of emotional expression","obsolete":false,"parents":["HP:5200212"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increase in emotional expression"},{"scope":"EXACT","text":"Increased emotional display"}]} +{"alt_ids":[],"definition":"An increase in the tendency of a person to display emotional responsiveness or emotional empathy towards others during interpersonal interactions as compared to that person's previous norm. May be considered to be overreactive or over-engaged with interpersonal situations that may take on a persistent preoccupation and would appear to be relatively unrelated to the person, and beyond the expression of normal empathy.","id":"HP:5200323","name":"Amplification of emotional responsiveness","obsolete":false,"parents":["HP:5200212"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increase in emotional responsiveness"}]} +{"alt_ids":[],"definition":"An increase in the tendency of a person to be comfortable with physical contact with others compared to that person's previous norm. Often considered to be intrusive and encroaching on personal space of others less known to the person, frequently causing discomfort and may result in argument or altercation.","id":"HP:5200325","name":"Amplification of comfort with casual physical contact","obsolete":false,"parents":["HP:5200212"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increase in comfort with casual physical contact"}]} +{"alt_ids":[],"definition":"A reduction of libido (sexual desire), typically accompanied by a reduction in the frequency of sexual activity , and/or activity compared to the affected individual's previous state.","id":"HP:5200327","name":"Diminishment of sexual behavior","obsolete":false,"parents":["HP:0025793"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased sexual behavior"},{"scope":"EXACT","text":"Decreased sexual behaviour"},{"scope":"EXACT","text":"Hyposexuality"}]} +{"alt_ids":[],"definition":"A reduction in the tendency of a person to express emotions that is typically noticed as a change in behavior by family members or peers.","id":"HP:5200328","name":"Diminishment of emotional expression","obsolete":false,"parents":["HP:5200310"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased emotional display"}]} +{"alt_ids":[],"definition":"Impaired ability to stop or control alcohol use despite adverse social, occupational, or health consequences.","id":"HP:5200329","name":"Problematic alcohol consumption","obsolete":false,"parents":["HP:0430037"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excessive alcohol consumption"}]} +{"alt_ids":[],"definition":"Suicide attempts or preparations","id":"HP:5200330","name":"Suicide behaviors","obsolete":false,"parents":["HP:0100716"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sucidality"},{"scope":"EXACT","text":"Suicidal actions"}]} +{"alt_ids":[],"definition":"Misuse and/or abuse of sedative drugs.","id":"HP:5200331","name":"Addictive sedative use","obsolete":false,"parents":["HP:0033511"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sedative addiction"}]} +{"alt_ids":[],"definition":"Uncontrolled use or problematic behaviors of dependency without the use of drugs or substances can be detrimental.","id":"HP:5200332","name":"Addictive non-substance behaviors","obsolete":false,"parents":["HP:0030858"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Addiction to a behavior"},{"scope":"EXACT","text":"Addiction to a behaviour"},{"scope":"EXACT","text":"Addiction to an activity"},{"scope":"EXACT","text":"Addictive activity"}]} +{"alt_ids":[],"definition":"An uncontrollable urge to shop and spend money can lead to distress or impairment.","id":"HP:5200333","name":"Addictive spending behavior","obsolete":false,"parents":["HP:5200332"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Shopaholic"},{"scope":"EXACT","text":"Shopping addiction"},{"scope":"EXACT","text":"Spending addiction"}]} +{"alt_ids":[],"definition":"The act of taking chances or engaging in behaviors without restraint, typically involving the wagering of something valuable, in pursuit of acquiring something of higher value.","id":"HP:5200334","name":"Addictive gambling behavior","obsolete":false,"parents":["HP:5200332"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gambling addiction"}]} +{"alt_ids":[],"definition":"Inability to control or manage sexual urges, fantasies, or behaviors that impair one's ability to function.","id":"HP:5200335","name":"Addictive sex behavior","obsolete":false,"parents":["HP:5200332"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Sex addiction"}]} +{"alt_ids":[],"definition":"The inability to regulate persistent gaming behavior is characterized by a heightened prioritization of gaming activities over regular daily tasks and responsibilities.","id":"HP:5200336","name":"Addictive video game use","obsolete":false,"parents":["HP:5200332"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excessive video game playing"},{"scope":"EXACT","text":"Video game addiction"}]} +{"alt_ids":[],"definition":"Irresistible impulses to take easily affordable items.","id":"HP:5200337","name":"Compulsive stealing","obsolete":false,"parents":["HP:0000722"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Kleptomania"}]} +{"alt_ids":[],"definition":"The inability to control urges of deliberately setting fires for pleasure and gratification, without any criminal intent.","id":"HP:5200338","name":"Excessive fire setting","obsolete":false,"parents":["HP:0000722"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pyromania"}]} +{"alt_ids":[],"definition":"Deliberate harm to one's body, in the form of cutting that results in tissue damage, without a conscious intent to die.","id":"HP:5200339","name":"Self-cutting","obsolete":false,"parents":["HP:0000742"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cutting"},{"scope":"EXACT","text":"Deliberate cutting of skin"},{"scope":"EXACT","text":"Self cutting"}]} +{"alt_ids":[],"definition":"A persistent and compulsive need to use cannabis, despite negative consequences.","id":"HP:5200341","name":"Addictive cannabis use","obsolete":false,"parents":["HP:0033511"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Addictive marijuana use"},{"scope":"EXACT","text":"Cannabis addiction"},{"scope":"EXACT","text":"Marijuana addiction"}]} +{"alt_ids":[],"definition":"The habitual action of inflicting pain upon oneself by biting and/or devouring portions of one's body.","id":"HP:5200342","name":"Autophagia","obsolete":false,"parents":["HP:0012169"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Self-consumption"}]} +{"alt_ids":[],"definition":"Sleep paralysis that occurs when falling asleep.","id":"HP:5200352","name":"Hypnagogic sleep paralysis","obsolete":false,"parents":["HP:0025233","HP:5200296"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inability to move while falling asleep"},{"scope":"EXACT","text":"Predormital sleep paralysis"}]} +{"alt_ids":[],"definition":"Sleep paralysis that occurs when waking up from sleep.","id":"HP:5200353","name":"Hypnopompic sleep paralysis","obsolete":false,"parents":["HP:0025233","HP:5200297"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inability to move while awakening"},{"scope":"EXACT","text":"Postdormital paralysis"},{"scope":"EXACT","text":"Postdormital sleep paralysis"}]} +{"alt_ids":[],"definition":"Entering REM sleep immediately upon falling asleep.","id":"HP:5200356","name":"Sleep onset rapid eye movement period","obsolete":false,"parents":["HP:0002494","HP:5200296","HP:5200298"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"SOREMP"},{"scope":"EXACT","text":"Sleep-onset (REM) period"},{"scope":"EXACT","text":"Sleep-onset rapid eye movement (REM) period"}]} +{"alt_ids":[],"definition":"Increased duration of phase N1 of nonrapid eye movement (NREM) sleep.","id":"HP:5200357","name":"Prolonged N1 sleep","obsolete":false,"parents":["HP:5200363"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased duration of phase N2 of nonrapid eye movement (NREM) sleep.","id":"HP:5200358","name":"Prolonged N2 sleep","obsolete":false,"parents":["HP:5200363"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased duration of phase N3 of nonrapid eye movement (NREM) sleep.","id":"HP:5200359","name":"Prolonged N3 sleep","obsolete":false,"parents":["HP:5200363"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:5200360","name":"Short REM sleep","obsolete":false,"parents":["HP:0002494","HP:5200298"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Short rapid eye movement sleep"}]} +{"alt_ids":[],"definition":null,"id":"HP:5200361","name":"Prolonged REM sleep","obsolete":false,"parents":["HP:0002494","HP:5200298"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prolonged rapid eye movement sleep"}]} +{"alt_ids":[],"definition":null,"id":"HP:5200362","name":"Short NREM sleep","obsolete":false,"parents":["HP:5200298"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:5200363","name":"Prolonged NREM sleep","obsolete":false,"parents":["HP:5200298"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Beliefs that deviate from what is considered rational or within the range of normal human judgment and belief formation.","id":"HP:5200401","name":"Abnormal judgment","obsolete":false,"parents":["HP:5200423"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal beliefs"}]} +{"alt_ids":[],"definition":"A solitary belief that may be held by others in the society that is maintained by the person to an abnormal and morbid degree and overtly drives behaviors that are considered unhealthy, intrusive, or illegal. This includes fads and cults that the person may adhere to and practice to a morbid degree. The content may vary and ranges from religion, health, romance, or politics.","id":"HP:5200402","name":"Overvalued idea","obsolete":false,"parents":["HP:0025785"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Overvalued ideas"}]} +{"alt_ids":[],"definition":"The inability to perceive the passage of time is usually due to a disorder involving the temporal area of the brain.","id":"HP:5200403","name":"Time agnosia","obsolete":false,"parents":["HP:0010524"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The inability to recognize certain smells or types of odors that you previously recognized.","id":"HP:5200405","name":"Olfactory agnosia","obsolete":false,"parents":["HP:0010524"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The inability to recognize objects by touch is called tactile agnosia.","id":"HP:5200406","name":"Tactile agnosia","obsolete":false,"parents":["HP:0010524"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The inability to rely on visual cues to guide one's direction is due to the inability to recognize objects.","id":"HP:5200407","name":"Topographical agnosia","obsolete":false,"parents":["HP:0010524"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Delusional memory is a memory that is false or fantastically distorted, but held with firm and irrefutable conviction despite evidence to the contrary. It is often seen in psychiatric conditions such as delusional disorders, schizophrenia, and sometimes in severe mood disorders. These memories can be completely fabricated or have a basis in an actual event that has been grossly misinterpreted or altered by the individual's mind.","id":"HP:5200409","name":"Delusional memory","obsolete":false,"parents":["HP:0000746"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Retrospective delusion"}]} +{"alt_ids":[],"definition":"The condition is characterized by the inability to recognize spoken languages and/or nonverbal environmental sounds and music, despite having adequate hearing. However, spontaneous speech, reading, and writing abilities remain intact.","id":"HP:5200410","name":"Auditory agnosia","obsolete":false,"parents":["HP:0010524"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"People cannot identify tastes, even though they can experience them.","id":"HP:5200411","name":"Gustatory agnosia","obsolete":false,"parents":["HP:0010524"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Referral of a sensory stimulus from one side of the body to the other.","id":"HP:5200412","name":"Allesthesia","obsolete":false,"parents":["HP:0010524"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The loss of the ability to localize, recognize, or identify specific parts of one's body.","id":"HP:5200413","name":"Autotopagnosia","obsolete":false,"parents":["HP:0010524"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"False beliefs (or judgements) that are held with extraordinary conviction and subjective certainty that are impervious to other experiences or counterarguments and the content is generally considered impossible for the context and circumstance. Delusional beliefs may arise meaningfully from personal or social experiences, yet are impossible, held with conviction, and irrefutable; more commonly they may be psychologically irreducible, appearing with no logical or meaningful connection to the individual experience.","id":"HP:5200415","name":"Persecutory delusion","obsolete":false,"parents":["HP:0000746"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delusion of persecution"}]} +{"alt_ids":[],"definition":"A disorder of delusional content wherein the affected individual believes they are a victim of their partner's infidelity. It is often based on delusional evidence of an erotic or romantic nature. There may be an affective (mood related) component or may be associated with substance use disorders. It may also occur on its own. There may be associated behaviors to monitor or gather evidence of the perceived infidelity.","id":"HP:5200416","name":"Morbid jealousy","obsolete":false,"parents":["HP:0000746"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delusion of infidelity"},{"scope":"EXACT","text":"Pathological jealousy"}]} +{"alt_ids":[],"definition":"Delusional beliefs of a fantastical, expansive, or supernatural quality related to power, ability, wealth, or station. They are often related to origin (aristocratic lineage, royal birth, being raised as a foster child), possessions (owning vast estates, castles, etc., which are withheld through intrigue), abilities (being great inventors, discoverers, artists, possessors of special wisdom, gifted with inspiration), and status (adviser to prominent diplomats, the true director of political destinies). Grandiose delusions may be related to affective states, substance use, or may occur independently.","id":"HP:5200417","name":"Grandiose delusion","obsolete":false,"parents":["HP:0000746"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Megalomania"}]} +{"alt_ids":[],"definition":"Delusional beliefs are transmitted from one individual to another.","id":"HP:5200418","name":"Folie à deux","obsolete":false,"parents":["HP:0000746"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Shared psychosis"}]} +{"alt_ids":[],"definition":"A false belief that another person, group of people, or external force controls one's general thoughts, feelings, impulses, or behaviors.","id":"HP:5200419","name":"Disorder of thought control","obsolete":false,"parents":["HP:0000746","HP:0025769"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delusion of control"}]} +{"alt_ids":[],"definition":"A delusional belief that the person is secretly loved by another individual who is often of recognized fame or authoratative significance. There is typically no overt evidence and the delusional belief may be driven by falsely perceived indicators. Often there is a blend of erotic delusions and morbid infatuation.","id":"HP:5200420","name":"Delusion of love","obsolete":false,"parents":["HP:0000746"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"De Clérambault syndrome"},{"scope":"EXACT","text":"Erotomania"},{"scope":"EXACT","text":"Psychose passionelle"}]} +{"alt_ids":[],"definition":"A delusion that elements of the self, body, or world no longer exist. The person typically recognizes that the entity did in fact exist at one time, but has ceased to exist. The cause of which may be related to disease, decay, or may have been removed or taken by unknown forces.","id":"HP:5200421","name":"Nihilistic delusion","obsolete":false,"parents":["HP:0000746"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A false belief that you or your body parts are dead, dying, or do not exist.","id":"HP:5200422","name":"Cotard delusion","obsolete":false,"parents":["HP:0000746"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cotard syndrome"}]} +{"alt_ids":[],"definition":"Subjective phenomena or perceptions that deviate from what is considered correct or are outside the range of normal human experiences.","id":"HP:5200423","name":"Abnormal experience of reality","obsolete":false,"parents":["HP:0011446"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A true perception, to which a patient attributes a false and usually bizarre meaning or interpretation. It is often a revelatory experience that is sudden and is a profound realization of the delusional belief. It often occurs in the context of delusional mood or atmosphere wherein vague and mysterious hunches or concerns with nebulous meaning evolve into clear, delusional observations, and expresses delusions of reference.","id":"HP:5200424","name":"Delusional perception","obsolete":false,"parents":["HP:0000746"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Delusion quality to belief that one is suffering from an illness despite reassurances based on medical examination and testing. The person may (or not) express pain or discomfort that they attribute to the disease. They are frequently treatment seeking, but do not induce illness features (which is termed Munchhausen syndrome).","id":"HP:5200425","name":"Hypochondriac delusion","obsolete":false,"parents":["HP:0000746"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Munchhausen syndrome"}]} +{"alt_ids":[],"definition":"A persistent belief that a person is infested with living or non-living pathogens, such as parasites, insects, or bugs, when no such infestation is present.","id":"HP:5200426","name":"Delusions of infestation","obsolete":false,"parents":["HP:0000746"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ekbom's syndrome"}]} +{"alt_ids":[],"definition":"A persistent sense or a hunch that something is different in an imperceptible manner. Typically the perception is one of a sinister, portentous , uncanny, mysterious, or peculiar sense of foreboding in an indefinable way. There is an innate sense of inexplicable self-relevance to the person. There is often a feeling of anticipation, sometimes even excitement, that soon the mystery may be revealed and all the separate parts of their experience will fit together to reveal something immensely significant. The duration of this experience may vary, lasting from hours to days. It may be intermittent over an extended period of time (months to years).","id":"HP:5200427","name":"Delusional atmosphere","obsolete":false,"parents":["HP:0000746"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Delusional mood"}]} +{"alt_ids":[],"definition":"A group of complex, monothematic delusional phenomena in which subjects hold a belief that the identity of a familiar person, object, location, or self has been altered or replaced. The majority of misidentifications are spouses or first degree relatives, i.e. someone well-known to the person.","id":"HP:5200428","name":"Delusional misidentification","obsolete":false,"parents":["HP:0000746"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Delusions with a religious content that are considered delusional in nature based on how the belief is held and the evidence offered to support it, which is generally considered impossible or fantastical in the cultural setting of the person. It differs from unusual beliefs that are held with tenacity or conviction and are typically associated with other phenomena consistent with mental illness.","id":"HP:5200429","name":"Religious delusion","obsolete":false,"parents":["HP:0000746"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any abnormal pattern of psychotic experiences, where an individual has significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality.","id":"HP:5200430","name":"Abnormal psychotic pattern","obsolete":false,"parents":["HP:5200423"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Unilateral cleft lip cleft that starts from the bottom of the upper lip but does not reach the nasal cavity.","id":"HP:5201000","name":"Incomplete unilateral cleft lip","obsolete":false,"parents":["HP:0011340","HP:0100333"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Unilateral cleft lip cleft that starts from the bottom of the upper lip and reaches the nasal cavity.","id":"HP:5201001","name":"Complete unilateral cleft lip","obsolete":false,"parents":["HP:0100333","HP:5201009"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Notch, groove, or scar of the upper lip without noticeable rupture of the lip. Microforms are sometimes associated with disruption of the continuity of the orbicularis oris muscle.","id":"HP:5201002","name":"Microform unilateral cleft lip","obsolete":false,"parents":["HP:0100333","HP:5201010"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cleft hard palate in which the cleft goes through the entire length of the hard palate, ie. from the incisor foramen to the anterior border of the soft palate.","id":"HP:5201003","name":"Complete cleft hard palate","obsolete":false,"parents":["HP:0410005"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cleft hard palate in which the cleft does not go through the entire length of the hard palate, ie. the cleft does not go from the incisor foramen to the anterior border of the soft palate.","id":"HP:5201004","name":"Incomplete cleft hard palate","obsolete":false,"parents":["HP:0410005"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cleft soft palate in which the cleft goes through the entire length of the soft palate, i.e. from the posterior border of the hard palate until the uvula.","id":"HP:5201005","name":"Complete cleft soft palate","obsolete":false,"parents":["HP:0000185"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cleft soft palate in which the cleft does not go through the entire length of the soft palate, i.e. the cleft does not go from the posterior border of the hard palate until the uvula.","id":"HP:5201006","name":"Incomplete cleft soft palate","obsolete":false,"parents":["HP:0000185"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cleft maxillary alveolar ridge in which the cleft does not go through the entire length of the maxillary alveolar ridge.","id":"HP:5201007","name":"Incomplete cleft maxillary alveolar ridge","obsolete":false,"parents":["HP:0010289"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cleft maxillary alveolar ridge in which the cleft goes through the entire length of the maxillary alveolar ridge.","id":"HP:5201008","name":"Complete cleft maxillary alveolar ridge","obsolete":false,"parents":["HP:0010289"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cleft of the upper lip that starts from the bottom of the upper lip and reaches the nasal cavity.","id":"HP:5201009","name":"Complete cleft of the upper lip","obsolete":false,"parents":["HP:0000204"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Notch, groove, or scar of the upper lip without noticeable rupture of the lip.","id":"HP:5201010","name":"Microform cleft of the upper lip","obsolete":false,"parents":["HP:0000204"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bilateral cleft lip in which the cleft lip on both sides is complete, i.e. start from the bottom of the upper lip and reach the nasal cavity.","id":"HP:5201011","name":"Complete bilateral cleft lip","obsolete":false,"parents":["HP:0100336"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bilateral cleft lip in which the cleft lip on both sides are incomplete (i.e. start from the bottom of the upper lip but do not reach the nasal cavity), or the cleft lip on one is incomplete and a microform on the other side.","id":"HP:5201012","name":"Incomplete bilateral cleft lip","obsolete":false,"parents":["HP:0100336"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bilateral cleft lip in which the cleft lip on both sides are microform, i.e. a notch, groove, or scar without noticeable rupture of the lip.","id":"HP:5201013","name":"Microform bilateral cleft lip","obsolete":false,"parents":["HP:0100336"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bilateral cleft lip in which the cleft lip on one side is complete (i.e. starts from the bottom of the upper lip and reaches the nasal cavity), and the one on the other side is incomplete (i.e. starts from the bottom of the upper lip but does not reach the nasal cavity) or microform (i.e. a notch, groove, or scar without noticeable rupture of the lip).","id":"HP:5201014","name":"Asymmetric bilateral cleft lip","obsolete":false,"parents":["HP:0100336"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Congenital abnormality with cleft (gap or opening) in the craniofacial bones. Craniofacial cleft includes facial cleft, orofacial clef, and cleft of the jaw.","id":"HP:5201015","name":"Craniofacial cleft","obsolete":false,"parents":["HP:0000234"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A cleft of the muscular portion of the palate that is covered by mucous membrane.","id":"HP:5201016","name":"Submucous cleft palate","obsolete":false,"parents":["HP:0000175"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Submucosal cleft palate"},{"scope":"EXACT","text":"Submucous clefting"}]} +{"alt_ids":[],"definition":"Increased susceptibility to bacterial infections as manifested by recurrent or severe/invasive bacterial infection, or by bacterial infection in an unusual anatomical location.","id":"HP:5210000","name":"Unusual bacterial infection","obsolete":false,"parents":["HP:0032101"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Unusual susceptibility to bacterial infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to gram-positive bacterial infections as manifested by recurrent or severe/invasive infection with gram-positive organisms.","id":"HP:5210001","name":"Unusual gram-positive bacterial infection","obsolete":false,"parents":["HP:5210000"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to gram-negative bacterial infections as manifested by recurrent or severe/invasive infection with gram-negative organisms.","id":"HP:5210002","name":"Unusual gram-negative bacterial infection","obsolete":false,"parents":["HP:5210000"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to Staphylococcus aureus infections as manifested by recurrent or severe/invasive infection with Staphylococcus aureus, or by Staphylococcus aureus infection occurring in an unusual anatomical location.","id":"HP:5210003","name":"Unusual Staphylococcus aureus infection","obsolete":false,"parents":["HP:5210001"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Unusual susceptibility to Staphylococcus aureus"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Staphylococcus aureus infections as manifested by a severe or invasive infection with Staphylococcus aureus.","id":"HP:5210004","name":"Severe Staphylococcus aureus infection","obsolete":false,"parents":["HP:5210003"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Disseminated staphylococcus aureus infection"},{"scope":"NARROW","text":"Invasive staphylococcus aureus infection"}]} +{"alt_ids":[],"definition":"An absence of total immunoglobulin A (IgA) in the circulation that persists for more than 6 months.","id":"HP:5210005","name":"Chronic absent circulating IgA","obsolete":false,"parents":["HP:0002720"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic absent circulating IgA level"},{"scope":"EXACT","text":"Total IgA deficiency"},{"scope":"BROAD","text":"undetactable IgA"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Enterococcus infections as manifested by recurrent or severe/invasive infection with Enterococcus, or by Enterococcus infection occurring in an unusual anatomical location.","id":"HP:5210006","name":"Unusual Enterococcus infection","obsolete":false,"parents":["HP:5210001"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to Enterococcus infections as manifested by a severe or invasive infection with Enterococcus.","id":"HP:5210007","name":"Severe Enterococcus infection","obsolete":false,"parents":["HP:5210006"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Disseminated enterococcal infection"},{"scope":"NARROW","text":"Invasive enterococcal infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Enterococcus infections as manifested by recurrent episodes of Enterococcus infection.","id":"HP:5210008","name":"Recurrent Enterococcus infection","obsolete":false,"parents":["HP:5210006"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Chronic enterococcal infection"},{"scope":"NARROW","text":"Persistent enterococcus infection"},{"scope":"NARROW","text":"Recurrent enterococcal infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Streptococcus infections as manifested by recurrent or severe/invasive infection with Streptococcus, or by Streptococcus infection occurring in an unusual anatomical location.","id":"HP:5210009","name":"Unusual Streptococcus infection","obsolete":false,"parents":["HP:5210001"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Unusual streptococcal infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Streptococcus pneumoniae infections as manifested by recurrent or severe/invasive infection with Streptococcus pneumoniae, or by Streptococcus pneumoniae infection occurring in an unusual anatomical location.","id":"HP:5210010","name":"Unusual Streptococcus pneumoniae infection","obsolete":false,"parents":["HP:0032260","HP:5210009"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Unusual pneumococcal infection"},{"scope":"NARROW","text":"Unusual susceptibility to pneumococcus"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Streptococcus pneumoniae infections as manifested by a severe or invasive infection with Streptococcus pneumoniae.","id":"HP:5210011","name":"Severe Streptococcus pneumoniae infection","obsolete":false,"parents":["HP:5210010"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Disseminated pneumococcal infection"},{"scope":"NARROW","text":"Invasive pneumococcal disease"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Streptococcus pneumoniae infections as manifested by recurrent episodes of Streptococcus pneumoniae infection.","id":"HP:5210012","name":"Recurrent Streptococcus pneumoniae infection","obsolete":false,"parents":["HP:5210010"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Chronic pneumococcal infection"},{"scope":"NARROW","text":"Persistent pneumococcal infection"},{"scope":"NARROW","text":"Recurrent pneumococcal infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Streptococcus pyogenes infections as manifested by recurrent or severe/invasive infection with Streptococcus pyogenes, or by Streptococcus pyogenes infection occurring in an unusual anatomical location.","id":"HP:5210013","name":"Unusual Streptococcus pyogenes infection","obsolete":false,"parents":["HP:5210009"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Unusual GAS infection"},{"scope":"NARROW","text":"Unusual Group A streptococcal infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Streptococcus pyogenes infections as manifested by a severe or invasive infection with Streptococcus pyogenes.","id":"HP:5210014","name":"Severe Streptococcus pyogenes infection","obsolete":false,"parents":["HP:5210013"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Disseminated Streptococcus pyogenes infection"},{"scope":"NARROW","text":"Invasive Group A streptococcal infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Streptococcus pyogenes infections as manifested by recurrent episodes of Streptococcus pyogenes infection.","id":"HP:5210015","name":"Recurrent Streptococcus pyogenes infection","obsolete":false,"parents":["HP:5210013"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Chronic Streptococcus pyogenes infection"},{"scope":"NARROW","text":"Persistent Streptococcus pyogenes infection"},{"scope":"NARROW","text":"Recurrent Group A streptococcal infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Streptococcus agalactiae infections as manifested by recurrent or severe/invasive infection with Streptococcus agalactiae, or by Streptococcus agalactiae infection occurring in an unusual anatomical location.","id":"HP:5210016","name":"Unusual Streptococcus agalactiae infection","obsolete":false,"parents":["HP:5210009"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Unusual GBS infection"},{"scope":"NARROW","text":"Unusual Group B streptococcal infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Streptococcus agalactiae infections as manifested by a severe or invasive infection with Streptococcus agalactiae.","id":"HP:5210017","name":"Severe Streptococcus agalactiae infection","obsolete":false,"parents":["HP:5210016"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Disseminated Streptococcus agalactiae infection"},{"scope":"NARROW","text":"Invasive Group B streptococcal infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Streptococcus agalactiae infections as manifested by recurrent episodes of Streptococcus agalactiae infection.","id":"HP:5210018","name":"Recurrent Streptococcus agalactiae infection","obsolete":false,"parents":["HP:5210016"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Chronic Streptococcus agalactiae infection"},{"scope":"NARROW","text":"Persistent Streptococcus agalactiae infection"},{"scope":"NARROW","text":"Recurrent Group B streptococcal infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Listeria infections as manifested by recurrent or severe/invasive infection with Listeria, or by Listeria infection occurring in an unusual anatomical location.","id":"HP:5210019","name":"Unusual Listeria infection","obsolete":false,"parents":["HP:0032260","HP:5210001"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Unusual listeriosis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Listeria infections as manifested by a severe or invasive infection with Listeria.","id":"HP:5210020","name":"Severe Listeria infection","obsolete":false,"parents":["HP:5210019"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Disseminated listeriosis"},{"scope":"NARROW","text":"Invasive listeriosis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Listeria infections as manifested by recurrent episodes of Listeria infection.","id":"HP:5210021","name":"Recurrent Listeria infection","obsolete":false,"parents":["HP:5210019"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Chronic listeriosis"},{"scope":"NARROW","text":"Persistent listeria infection"},{"scope":"NARROW","text":"Recurrent listeriosis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Nocardia infections as manifested by recurrent or severe/invasive infection with Nocardia, or by Nocardia infection occurring in an unusual anatomical location.","id":"HP:5210022","name":"Unusual Nocardia infection","obsolete":false,"parents":["HP:0032260","HP:5210001"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Unusual nocardiosis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Nocardia infections as manifested by a severe or invasive infection with Nocardia.","id":"HP:5210023","name":"Severe Nocardia infection","obsolete":false,"parents":["HP:5210022"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Disseminated nocardiosis"},{"scope":"NARROW","text":"Invasive nocardiosis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Nocardia infections as manifested by recurrent episodes of Nocardia infection.","id":"HP:5210024","name":"Recurrent Nocardia infection","obsolete":false,"parents":["HP:5210022"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Chronic nocardiosis"},{"scope":"NARROW","text":"Persistent nocardia infection"},{"scope":"NARROW","text":"Recurrent nocardiosis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Actinomyces infections as manifested by recurrent or severe/invasive infection with Actinomyces, or by Actinomyces infection occurring in an unusual anatomical location.","id":"HP:5210025","name":"Unusual Actinomyces infection","obsolete":false,"parents":["HP:5210001"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Unusual actinomycosis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Actinomyces infections as manifested by a severe or invasive infection with Actinomyces.","id":"HP:5210026","name":"Severe Actinomyces infection","obsolete":false,"parents":["HP:5210025"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Disseminated actinomycosis"},{"scope":"NARROW","text":"Invasive actinomycosis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Actinomyces infections as manifested by recurrent episodes of Actinomyces infection.","id":"HP:5210027","name":"Recurrent Actinomyces infection","obsolete":false,"parents":["HP:5210025"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Chronic actinomycosis"},{"scope":"NARROW","text":"Persistent actinomyces infection"},{"scope":"NARROW","text":"Recurrent actinomycosis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Clostridium infections as manifested by recurrent or severe/invasive infection with Clostridium, or by Clostridium infection occurring in an unusual anatomical location.","id":"HP:5210028","name":"Unusual Clostridium infection","obsolete":false,"parents":["HP:5210001"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Unusual clostridial infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Clostridium infections as manifested by a severe or invasive infection with Clostridium.","id":"HP:5210029","name":"Severe Clostridium infection","obsolete":false,"parents":["HP:5210028"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Disseminated clostridial infection"},{"scope":"NARROW","text":"Invasive clostridial infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Clostridium infections as manifested by recurrent episodes of Clostridium infection.","id":"HP:5210030","name":"Recurrent Clostridium infection","obsolete":false,"parents":["HP:5210028"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Chronic clostridial infection"},{"scope":"NARROW","text":"Persistent clostridium infection"},{"scope":"NARROW","text":"Recurrent clostridial infection"}]} +{"alt_ids":[],"definition":"A reduction in the total concentration of immunoglobulin M (IgM) in the circulation that persists for more than 6 months.","id":"HP:5210031","name":"Chronic decreased circulating IgM concentration","obsolete":false,"parents":["HP:0002850"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic decreased circulating IgM level"},{"scope":"EXACT","text":"partial IgM deficiency"}]} +{"alt_ids":[],"definition":"An absence of total immunoglobulin M (IgM) in the circulation that persists for more than 6 months.","id":"HP:5210032","name":"Chronic absent circulating IgM","obsolete":false,"parents":["HP:0002850"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic absent circulating IgM level"},{"scope":"EXACT","text":"total IgM deficiency"},{"scope":"BROAD","text":"undetectable IgM"}]} +{"alt_ids":[],"definition":"A temporary reduction in the total concentration of immunoglobulin M (IgM) in the circulation that is documented at one or more time points but subsequently normalizes on follow-up measurement.","id":"HP:5210033","name":"Transient decreased circulating IgM concentration","obsolete":false,"parents":["HP:0002850"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"transient IgM deficiency"}]} +{"alt_ids":[],"definition":"Complete or near-complete absence of specific antibody production measured 4 to 6 weeks following vaccination with the unconjugated Salmonella typhi vaccine.","id":"HP:5210034","name":"Complete or near-complete absence of specific antibody response to unconjugated Salmonella typhi vaccine","obsolete":false,"parents":["HP:0410299"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"total specific polysaccharide antibody deficiency to Typhim Vi"}]} +{"alt_ids":[],"definition":"Partial absence of specific antibody production following vaccination with unconjugated Salmonella typhi vaccine.","id":"HP:5210035","name":"Partial absence of specific antibody response to unconjugated Salmonella typhi vaccine","obsolete":false,"parents":["HP:0410299"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"partial specific polysaccharide antibody deficiency to Typhim Vi"}]} +{"alt_ids":[],"definition":"The concentration in the blood circulation of specific immunoglobulins directed against the capsular polysaccharide of Haemophilus influenzae type b is below the lower limit of normal.","id":"HP:5210036","name":"Decreased circulating specific Haemophilus influenzae type b antibody concentration","obsolete":false,"parents":["HP:0002848"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased specific Haemophilus influenzae type b antibody level"},{"scope":"EXACT","text":"Low Hib antibody titer"},{"scope":"EXACT","text":"Specific Haemophilus influenzae type b antibody deficiency"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Shigella infections as manifested by recurrent or severe/invasive infection with Shigella, or by Shigella infection occurring in an unusual anatomical location.","id":"HP:5210037","name":"Unusual Shigella infection","obsolete":false,"parents":["HP:5210002"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual infection with Shigella species"},{"scope":"EXACT","text":"Unusual infection with Shigella spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Shigella infections as manifested by a severe or invasive infection with Shigella.","id":"HP:5210038","name":"Severe Shigella infection","obsolete":false,"parents":["HP:5210037"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated Shigella infection"},{"scope":"EXACT","text":"Invasive Shigella infection"},{"scope":"EXACT","text":"Severe infection with Shigella species"},{"scope":"EXACT","text":"Severe infection with Shigella spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Shigella infections as manifested by recurrent episodes of Shigella infection.","id":"HP:5210039","name":"Recurrent Shigella infection","obsolete":false,"parents":["HP:0005420","HP:5210037"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic Shigella infection"},{"scope":"EXACT","text":"Persistent Shigella infection"},{"scope":"EXACT","text":"Recurrent infection with Shigella species"},{"scope":"EXACT","text":"Recurrent infection with Shigella spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Klebsiella infections as manifested by recurrent or severe/invasive infection with Klebsiella, or by Klebsiella infection occurring in an unusual anatomical location.","id":"HP:5210040","name":"Unusual Klebsiella infection","obsolete":false,"parents":["HP:5210002"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual infection with Klebsiella species"},{"scope":"EXACT","text":"Unusual infection with Klebsiella spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Klebsiella infections as manifested by a severe or invasive infection with Klebsiella.","id":"HP:5210041","name":"Severe Klebsiella infection","obsolete":false,"parents":["HP:5210040"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated Klebsiella infection"},{"scope":"EXACT","text":"Invasive Klebsiella infection"},{"scope":"EXACT","text":"Severe infection with Klebsiella species"},{"scope":"EXACT","text":"Severe infection with Klebsiella spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Enterobacter infections as manifested by recurrent or severe/invasive infection with Enterobacter, or by Enterobacter infection occurring in an unusual anatomical location.","id":"HP:5210043","name":"Unusual Enterobacter infection","obsolete":false,"parents":["HP:5210002"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual infection with Enterobacter species"},{"scope":"EXACT","text":"Unusual infection with Enterobacter spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Enterobacter infections as manifested by a severe or invasive infection with Enterobacter.","id":"HP:5210044","name":"Severe Enterobacter infection","obsolete":false,"parents":["HP:5210043"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated Enterobacter infection"},{"scope":"EXACT","text":"Invasive Enterobacter infection"},{"scope":"EXACT","text":"Severe infection with Enterobacter species"},{"scope":"EXACT","text":"Severe infection with Enterobacter spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Enterobacter infections as manifested by recurrent episodes of Enterobacter infection.","id":"HP:5210045","name":"Recurrent Enterobacter infection","obsolete":false,"parents":["HP:0005420","HP:5210043"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic Enterobacter infection"},{"scope":"EXACT","text":"Persistent Enterobacter infection"},{"scope":"EXACT","text":"Recurrent infection with Enterobacter species"},{"scope":"EXACT","text":"Recurrent infection with Enterobacter spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Serratia infections as manifested by recurrent or severe/invasive infection with Serratia, or by Serratia infection occurring in an unusual anatomical location.","id":"HP:5210046","name":"Unusual Serratia infection","obsolete":false,"parents":["HP:0032260","HP:5210002"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual infection with Serratia species"},{"scope":"EXACT","text":"Unusual infection with Serratia spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Serratia infections as manifested by a severe or invasive infection with Serratia.","id":"HP:5210047","name":"Severe Serratia infection","obsolete":false,"parents":["HP:5210046"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated Serratia infection"},{"scope":"EXACT","text":"Invasive Serratia infection"},{"scope":"EXACT","text":"Severe infection with Serratia species"},{"scope":"EXACT","text":"Severe infection with Serratia spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Proteus infections as manifested by recurrent or severe/invasive infection with Proteus, or by Proteus infection occurring in an unusual anatomical location.","id":"HP:5210049","name":"Unusual Proteus infection","obsolete":false,"parents":["HP:5210002"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual infection with Proteus species"},{"scope":"EXACT","text":"Unusual infection with Proteus spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Proteus infections as manifested by a severe or invasive infection with Proteus.","id":"HP:5210050","name":"Severe Proteus infection","obsolete":false,"parents":["HP:5210049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated Proteus infection"},{"scope":"EXACT","text":"Invasive Proteus infection"},{"scope":"EXACT","text":"Severe infection with Proteus species"},{"scope":"EXACT","text":"Severe infection with Proteus spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Proteus infections as manifested by recurrent episodes of Proteus infection.","id":"HP:5210051","name":"Recurrent Proteus infection","obsolete":false,"parents":["HP:0005420","HP:5210049"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic Proteus infection"},{"scope":"EXACT","text":"Persistent Proteus infection"},{"scope":"EXACT","text":"Recurrent infection with Proteus species"},{"scope":"EXACT","text":"Recurrent infection with Proteus spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Citrobacter infections as manifested by recurrent or severe/invasive infection with Citrobacter, or by Citrobacter infection occurring in an unusual anatomical location.","id":"HP:5210052","name":"Unusual Citrobacter infection","obsolete":false,"parents":["HP:5210002"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual infection with Citrobacter species"},{"scope":"EXACT","text":"Unusual infection with Citrobacter spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Citrobacter infections as manifested by a severe or invasive infection with Citrobacter.","id":"HP:5210053","name":"Severe Citrobacter infection","obsolete":false,"parents":["HP:5210052"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated Citrobacter infection"},{"scope":"EXACT","text":"Invasive Citrobacter infection"},{"scope":"EXACT","text":"Severe infection with Citrobacter species"},{"scope":"EXACT","text":"Severe infection with Citrobacter spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Citrobacter infections as manifested by recurrent episodes of Citrobacter infection.","id":"HP:5210054","name":"Recurrent Citrobacter infection","obsolete":false,"parents":["HP:0005420","HP:5210052"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic Citrobacter infection"},{"scope":"EXACT","text":"Persistent Citrobacter infection"},{"scope":"EXACT","text":"Recurrent infection with Citrobacter species"},{"scope":"EXACT","text":"Recurrent infection with Citrobacter spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Pseudomonas aeruginosa infections as manifested by recurrent or severe/invasive infection with Pseudomonas aeruginosa, or by Pseudomonas aeruginosa infection occurring in an unusual anatomical location.","id":"HP:5210055","name":"Unusual Pseudomonas aeruginosa infection","obsolete":false,"parents":["HP:0032260","HP:5210002"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to Pseudomonas aeruginosa infections as manifested by a severe or invasive infection with Pseudomonas aeruginosa.","id":"HP:5210056","name":"Severe Pseudomonas aeruginosa infection","obsolete":false,"parents":["HP:5210055"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated pseudomonal infection"},{"scope":"EXACT","text":"Invasive Pseudomonas aeruginosa infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Pseudomonas aeruginosa infections as manifested by recurrent episodes of Pseudomonas aeruginosa infection.","id":"HP:5210057","name":"Recurrent Pseudomonas aeruginosa infection","obsolete":false,"parents":["HP:0005420","HP:5210055"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic pseudomonal infection"},{"scope":"EXACT","text":"Persistent Pseudomonas aeruginosa infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Acinetobacter baumannii infections as manifested by recurrent or severe/invasive infection with Acinetobacter baumannii, or by Acinetobacter baumannii infection occurring in an unusual anatomical location.","id":"HP:5210058","name":"Unusual Acinetobacter baumannii infection","obsolete":false,"parents":["HP:5210002"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to Acinetobacter baumannii infections as manifested by a severe or invasive infection with Acinetobacter baumannii.","id":"HP:5210059","name":"Severe Acinetobacter baumannii infection","obsolete":false,"parents":["HP:5210058"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated Acinetobacter infection"},{"scope":"EXACT","text":"Invasive Acinetobacter baumannii infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Acinetobacter baumannii infections as manifested by recurrent episodes of Acinetobacter baumannii infection.","id":"HP:5210060","name":"Recurrent Acinetobacter baumannii infection","obsolete":false,"parents":["HP:0005420","HP:5210058"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic Acinetobacter baumannii infection"},{"scope":"EXACT","text":"Persistent Acinetobacter baumannii infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Legionella pneumophila infections as manifested by recurrent or severe/invasive infection with Legionella pneumophila, or by Legionella pneumophila infection occurring in an unusual anatomical location.","id":"HP:5210061","name":"Unusual Legionella pneumophila infection","obsolete":false,"parents":["HP:5210002"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to Legionella pneumophila infections as manifested by a severe or invasive infection with Legionella pneumophila.","id":"HP:5210062","name":"Severe Legionella pneumophila infection","obsolete":false,"parents":["HP:5210061"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated Legionella infection"},{"scope":"EXACT","text":"Invasive Legionella infection"},{"scope":"EXACT","text":"Severe legionellosis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Legionella pneumophila infections as manifested by recurrent episodes of Legionella pneumophila infection.","id":"HP:5210063","name":"Recurrent Legionella pneumophila infection","obsolete":false,"parents":["HP:0005420","HP:5210061"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic Legionella pneumophila infection"},{"scope":"EXACT","text":"Persistent Legionella pneumophila infection"},{"scope":"EXACT","text":"Recurrent legionellosis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Neisseria gonorrhoeae infections as manifested by recurrent or severe/invasive infection with Neisseria gonorrhoeae, or by Neisseria gonorrhoeae infection occurring in an unusual anatomical location.","id":"HP:5210064","name":"Unusual Neisseria gonorrhoeae infection","obsolete":false,"parents":["HP:5210002"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to Neisseria gonorrhoeae infections as manifested by a severe or invasive infection with Neisseria gonorrhoeae.","id":"HP:5210065","name":"Severe Neisseria gonorrhoeae infection","obsolete":false,"parents":["HP:5210064"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated gonococcal infection"},{"scope":"EXACT","text":"Invasive gonococcal infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Neisseria gonorrhoeae infections as manifested by recurrent episodes of Neisseria gonorrhoeae infection.","id":"HP:5210066","name":"Recurrent Neisseria gonorrhoeae infection","obsolete":false,"parents":["HP:0005430","HP:5210064"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic gonococcal infection"},{"scope":"EXACT","text":"Persistent Neisseria gonorrhoeae infection"},{"scope":"EXACT","text":"Recurrent gonococcal infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Neisseria meningitidis infections as manifested by recurrent or severe/invasive infection with Neisseria meningitidis, or by Neisseria meningitidis infection occurring in an unusual anatomical location.","id":"HP:5210067","name":"Unusual Neisseria meningitidis infection","obsolete":false,"parents":["HP:5210002"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to Neisseria meningitidis infections as manifested by a severe or invasive infection with Neisseria meningitidis.","id":"HP:5210068","name":"Severe Neisseria meningitidis infection","obsolete":false,"parents":["HP:5210067"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated meningococcal infection"},{"scope":"EXACT","text":"Invasive meningococcal disease"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent or severe/invasive infection with Haemophilus influenzae, or by Haemophilus influenzae infection occurring in an unusual anatomical location.","id":"HP:5210070","name":"Unusual Haemophilus influenzae infection","obsolete":false,"parents":["HP:5210002"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to Haemophilus influenzae infections as manifested by a severe or invasive infection with Haemophilus influenzae.","id":"HP:5210071","name":"Severe Haemophilus influenzae infection","obsolete":false,"parents":["HP:5210070"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated H. influenzae infection"},{"scope":"EXACT","text":"Invasive Haemophilus influenzae infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Moraxella catarrhalis infections as manifested by recurrent or severe/invasive infection with Moraxella catarrhalis, or by Moraxella catarrhalis infection occurring in an unusual anatomical location.","id":"HP:5210073","name":"Unusual Moraxella catarrhalis infection","obsolete":false,"parents":["HP:5210002"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to Moraxella catarrhalis infections as manifested by a severe or invasive infection with Moraxella catarrhalis.","id":"HP:5210074","name":"Severe Moraxella catarrhalis infection","obsolete":false,"parents":["HP:5210073"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated Moraxella catarrhalis infection"},{"scope":"EXACT","text":"Invasive Moraxella catarrhalis infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Moraxella catarrhalis infections as manifested by recurrent episodes of Moraxella catarrhalis infection.","id":"HP:5210075","name":"Recurrent Moraxella catarrhalis infection","obsolete":false,"parents":["HP:0005420","HP:5210073"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic Moraxella catarrhalis infection"},{"scope":"EXACT","text":"Persistent Moraxella catarrhalis infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Vibrio cholerae infections as manifested by recurrent or severe/invasive infection with Vibrio cholerae, or by Vibrio cholerae infection occurring in an unusual anatomical location.","id":"HP:5210076","name":"Unusual Vibrio cholerae infection","obsolete":false,"parents":["HP:5210002"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to Vibrio cholerae infections as manifested by a severe or invasive infection with Vibrio cholerae.","id":"HP:5210077","name":"Severe Vibrio cholerae infection","obsolete":false,"parents":["HP:5210076"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated Vibrio cholerae infection"},{"scope":"EXACT","text":"Invasive Vibrio cholerae infection"},{"scope":"EXACT","text":"Severe cholera"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Vibrio cholerae infections as manifested by recurrent episodes of Vibrio cholerae infection.","id":"HP:5210078","name":"Recurrent Vibrio cholerae infection","obsolete":false,"parents":["HP:0005420","HP:5210076"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic vibrio cholerae infection"},{"scope":"EXACT","text":"Persistent vibrio cholerae infection"},{"scope":"EXACT","text":"Recurrent cholera"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Burkholderia cepacia infections as manifested by recurrent or severe/invasive infection with Burkholderia cepacia, or by Burkholderia cepacia infection occurring in an unusual anatomical location.","id":"HP:5210079","name":"Unusual Burkholderia cepacia infection","obsolete":false,"parents":["HP:0032260","HP:5210002"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to Burkholderia cepacia infections as manifested by a severe or invasive infection with Burkholderia cepacia.","id":"HP:5210080","name":"Severe Burkholderia cepacia 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severe/invasive infection with Fusobacterium, or by Fusobacterium infection occurring in an unusual anatomical location.","id":"HP:5210085","name":"Unusual Fusobacterium infection","obsolete":false,"parents":["HP:5210002"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual infection with Fusobacterium species"},{"scope":"EXACT","text":"Unusual infection with Fusobacterium spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Fusobacterium infections as manifested by a severe or invasive infection with Fusobacterium.","id":"HP:5210086","name":"Severe Fusobacterium infection","obsolete":false,"parents":["HP:5210085"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated Fusobacterium infection"},{"scope":"EXACT","text":"Invasive Fusobacterium infection"},{"scope":"EXACT","text":"Severe infection with Fusobacterium species"},{"scope":"EXACT","text":"Severe infection with Fusobacterium spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Fusobacterium infections as manifested by recurrent episodes of Fusobacterium infection.","id":"HP:5210087","name":"Recurrent Fusobacterium infection","obsolete":false,"parents":["HP:0005420","HP:5210085"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic Fusobacterium infection"},{"scope":"EXACT","text":"Persistent Fusobacterium infection"},{"scope":"EXACT","text":"Recurrent infection with Fusobacterium species"},{"scope":"EXACT","text":"Recurrent infection with Fusobacterium spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Prevotella infections as manifested by recurrent or severe/invasive infection with Prevotella, or by Prevotella infection occurring in an unusual anatomical location.","id":"HP:5210088","name":"Unusual Prevotella infection","obsolete":false,"parents":["HP:5210002"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual infection with Prevotella species"},{"scope":"EXACT","text":"Unusual infection with Prevotella spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Prevotella infections as manifested by a severe or invasive infection with Prevotella.","id":"HP:5210089","name":"Severe Prevotella infection","obsolete":false,"parents":["HP:5210088"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated Prevotella infection"},{"scope":"EXACT","text":"Invasive Prevotella infection"},{"scope":"EXACT","text":"Severe infection with Prevotella species"},{"scope":"EXACT","text":"Severe infection with Prevotella spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Prevotella infections as manifested by recurrent episodes of Prevotella infection.","id":"HP:5210090","name":"Recurrent Prevotella infection","obsolete":false,"parents":["HP:0005420","HP:5210088"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic Prevotella infection"},{"scope":"EXACT","text":"Persistent Prevotella infection"},{"scope":"EXACT","text":"Recurrent infection with Prevotella species"},{"scope":"EXACT","text":"Recurrent infection with Prevotella spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Escherichia coli infections as manifested by recurrent or severe/invasive infection with Escherichia coli, or by Escherichia coli infection occurring in an unusual anatomical location.","id":"HP:5210091","name":"Unusual Escherichia coli infection","obsolete":false,"parents":["HP:5210002"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual infection with E. coli"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Escherichia coli infections as manifested by a severe or invasive infection with Escherichia coli.","id":"HP:5210092","name":"Severe Escherichia coli infection","obsolete":false,"parents":["HP:5210091"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated E. coli infection"},{"scope":"EXACT","text":"Invasive E. coli infection"},{"scope":"EXACT","text":"Severe E. coli infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Salmonella infections as manifested by recurrent or severe/invasive infection with Salmonella, or by Salmonella infection occurring in an unusual anatomical location.","id":"HP:5210093","name":"Unusual Salmonella infection","obsolete":false,"parents":["HP:0032260","HP:5210002"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual infection with Salmonella species"},{"scope":"EXACT","text":"Unusual infection with Salmonella spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Salmonella infections as manifested by a severe or invasive infection with Salmonella.","id":"HP:5210094","name":"Severe Salmonella infection","obsolete":false,"parents":["HP:5210093"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated Salmonella infection"},{"scope":"EXACT","text":"Invasive Salmonella infection"},{"scope":"EXACT","text":"Severe infection with Salmonella species"},{"scope":"EXACT","text":"Severe infection with Salmonella spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Salmonella infections as manifested by recurrent episodes of Salmonella infection.","id":"HP:5210095","name":"Recurrent Salmonella infection","obsolete":false,"parents":["HP:0005420","HP:5210093"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic Salmonella infection"},{"scope":"EXACT","text":"Persistent Salmonella infection"},{"scope":"EXACT","text":"Recurrent infection with Salmonella species"},{"scope":"EXACT","text":"Recurrent infection with Salmonella spp"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Pneumocystis jirovecii infections as manifested by recurrent or severe/invasive infection with Pneumocystis jirovecii, or by Pneumocystis jirovecii infection occurring in an unusual anatomical location.","id":"HP:5210096","name":"Unusual Pneumocystis jirovecii infection","obsolete":false,"parents":["HP:0032255"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual PCP infection"},{"scope":"EXACT","text":"Unusual Pneumocystis jiroveci infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Pneumocystis jirovecii infections as manifested by a severe or invasive infection with Pneumocystis jirovecii.","id":"HP:5210097","name":"Severe Pneumocystis jirovecii infection","obsolete":false,"parents":["HP:0020101","HP:5210096"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated Pneumocystis jirovecii infection"},{"scope":"EXACT","text":"Invasive Pneumocystis jirovecii infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Pneumocystis jirovecii infections as manifested by recurrent episodes of Pneumocystis jirovecii infection.","id":"HP:5210098","name":"Recurrent Pneumocystis jirovecii infection","obsolete":false,"parents":["HP:5210096"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic Pneumocystis jirovecii infection"},{"scope":"EXACT","text":"Persistent Pneumocystis jirovecii infection"},{"scope":"EXACT","text":"Recurrent PCP"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Aspergillus infections as manifested by recurrent or severe/invasive infection with Aspergillus, or by Aspergillus infection occurring in an unusual anatomical location.","id":"HP:5210099","name":"Unusual Aspergillus infection","obsolete":false,"parents":["HP:0032255"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual aspergillosis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Aspergillus infections as manifested by a severe or invasive infection with Aspergillus.","id":"HP:5210100","name":"Severe Aspergillus infection","obsolete":false,"parents":["HP:0020101","HP:5210099"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated aspergillosis"},{"scope":"EXACT","text":"Invasive aspergillosis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to adenovirus infections as manifested by recurrent or severe/invasive infection with adenovirus, or occurring in an unusual anatomical location.","id":"HP:5210101","name":"Unusual adenovirus infection","obsolete":false,"parents":["HP:0034317"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual susceptibility to adenovirus"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Candida infections as manifested by recurrent or severe/invasive infection with Candida, or by Candida infection occurring in an unusual anatomical location.","id":"HP:5210102","name":"Unusual Candida infection","obsolete":false,"parents":["HP:0032255"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual candidiasis"}]} +{"alt_ids":[],"definition":"Hepatitis caused by cytomegalovirus (CMV) infection that occurs in the context of unusual susceptibility to infection.","id":"HP:5210103","name":"Cytomegalovirus hepatitis","obsolete":false,"parents":["HP:0006562","HP:0033432","HP:5210146"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CMV hepatitis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to BK polyomavirus infections as manifested by recurrent or severe/invasive infection with BK polyomavirus, or occurring in an unusual anatomical location.","id":"HP:5210104","name":"Unusual BK virus infection","obsolete":false,"parents":["HP:0033432"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual BK polyomavirus infection"},{"scope":"EXACT","text":"Unusual Human polyomavirus 1 infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Cryptococcus infections as manifested by recurrent or severe/invasive infection with Cryptococcus, or by Cryptococcus infection occurring in an unusual anatomical location.","id":"HP:5210105","name":"Unusual Cryptococcus infection","obsolete":false,"parents":["HP:0032255"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual cryptococcosis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Cryptococcus infections as manifested by recurrent episodes of Cryptococcus infection.","id":"HP:5210106","name":"Recurrent Cryptococcus infection","obsolete":false,"parents":["HP:5210105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic Cryptococcus infection"},{"scope":"EXACT","text":"Persistent Cryptococcus infection"},{"scope":"EXACT","text":"Recurrent cryptococcosis"}]} +{"alt_ids":[],"definition":"Disseminated infection with Cryptococcus, involving multiple organ systems that occurs in the context of immune deficiency.","id":"HP:5210107","name":"Disseminated Cryptococcus infection","obsolete":false,"parents":["HP:0020101","HP:5210105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated cryptococcosis"},{"scope":"EXACT","text":"Invasive Cryptococcus infection"},{"scope":"EXACT","text":"Severe Cryptococcus infection"}]} +{"alt_ids":[],"definition":"Sclerosing cholangitis caused by Cryptococcus infection that occurs in the context of immune deficiency.","id":"HP:5210108","name":"Sclerosing cholangitis due to 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Organ-specific manifestations of disseminated tuberculosis include renal tuberculosis (tuberculous pyelonephritis, presenting with sterile pyuria and hematuria), hepatic tuberculosis, adrenal tuberculosis, and tuberculous osteomyelitis.","id":"HP:5210112","name":"Disseminated tuberculosis infection","obsolete":false,"parents":["HP:5210111"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated tuberculosis"},{"scope":"EXACT","text":"Miliary tuberculosis"},{"scope":"EXACT","text":"Severe tuberculosis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Mycobacterium tuberculosis infections as manifested by recurrent episodes of Mycobacterium tuberculosis infection.","id":"HP:5210113","name":"Recurrent tuberculosis infection","obsolete":false,"parents":["HP:5210111"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic tuberculosis"},{"scope":"EXACT","text":"Persistent tuberculosis"},{"scope":"EXACT","text":"Recurrent tuberculosis"}]} +{"alt_ids":[],"definition":"Osteomyelitis caused by Mycobacterium tuberculosis infection that occurs in the context of unusual susceptibility to infection.","id":"HP:5210114","name":"Tuberculous osteomyelitis","obsolete":false,"parents":["HP:5210111","HP:5210276"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pott's disease"},{"scope":"EXACT","text":"TB osteomyelitis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to non-tuberculous mycobacteria (NTM) infections as manifested by recurrent or severe/invasive infection with NTM, or occurring in an unusual anatomical location.","id":"HP:5210115","name":"Non-tuberculous mycobacterial infection","obsolete":false,"parents":["HP:5210110"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual MOTT infection"},{"scope":"EXACT","text":"Unusual NTM infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to varicella-zoster virus (VZV) infections as manifested by recurrent or severe/invasive infection with VZV, or occurring in an unusual anatomical location.","id":"HP:5210116","name":"Unusual VZV infection","obsolete":false,"parents":["HP:0034317"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual susceptibility to VZV"},{"scope":"EXACT","text":"Unusual varicella-zoster virus infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to non-tuberculous mycobacteria (NTM) infections as manifested by recurrent episodes of non-tuberculous mycobacteria (NTM) infection.","id":"HP:5210117","name":"Recurrent non-tuberculous mycobacterial infection","obsolete":false,"parents":["HP:5210115"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic non-tuberculosis mycobacteria infection"},{"scope":"EXACT","text":"Persistent non-tuberculosis mycobacteria infection"},{"scope":"EXACT","text":"Recurrent NTM infection"},{"scope":"EXACT","text":"Recurrent non-tuberculous mycobacteriosis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to mycobacterial infections that rarely cause disease in immunocompetent individuals.","id":"HP:5210118","name":"Opportunistic mycobacterial infection","obsolete":false,"parents":["HP:5210110"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual opportunistic mycobacterial infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Cryptosporidium infections as manifested by recurrent or severe/invasive infection with Cryptosporidium, or by Cryptosporidium infection occurring in an unusual anatomical location.","id":"HP:5210119","name":"Unusual Cryptosporidium infection","obsolete":false,"parents":["HP:0020104","HP:0020108"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual cryptosporidiosis"},{"scope":"EXACT","text":"Unusual susceptibility to Cryptosporidium"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Cryptosporidium infections as manifested by recurrent episodes of Cryptosporidium infection.","id":"HP:5210120","name":"Recurrent Cryptosporidium infection","obsolete":false,"parents":["HP:5210119"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic Cryptosporidium infection"},{"scope":"EXACT","text":"Persistent Cryptosporidium infection"},{"scope":"EXACT","text":"Recurrent cryptosporidiosis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infection of the upper respiratory tract, as manifested by recurrent or severe infection of the nose, sinuses, pharynx, larynx, or middle ear, or by infection caused by an atypical or opportunistic organism.","id":"HP:5210121","name":"Unusual upper respiratory tract infection","obsolete":false,"parents":["HP:0011947","HP:0032158"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Sclerosing cholangitis caused by Cryptosporidium infection that occurs in the context of unusual susceptibility to infection.","id":"HP:5210122","name":"Sclerosing cholangitis due to Cryptosporidium infection","obsolete":false,"parents":["HP:0030991","HP:5210119","HP:5210134"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to infection of the lower respiratory tract, as manifested by recurrent or severe infection of the trachea, bronchi, bronchioles, or lung parenchyma, or by infection caused by an atypical or opportunistic organism.","id":"HP:5210123","name":"Unusual lower respiratory tract infection","obsolete":false,"parents":["HP:0011947","HP:0032158"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to Giardia lamblia infections as manifested by recurrent or severe/invasive infection with Giardia lamblia, or by Giardia lamblia infection occurring in an unusual anatomical location.","id":"HP:5210124","name":"Unusual Giardia lamblia infection","obsolete":false,"parents":["HP:0020108"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual giardiasis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Giardia lamblia infections as manifested by a chronic or persistent Giardia lamblia infection.","id":"HP:5210125","name":"Persistent Giardia lamblia infection","obsolete":false,"parents":["HP:5210124"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic giardiasis"},{"scope":"EXACT","text":"Persistent giardiasis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Giardia lamblia infections as manifested by recurrent episodes of Giardia lamblia infection.","id":"HP:5210126","name":"Recurrent Giardia lamblia infection","obsolete":false,"parents":["HP:5210124"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent giardiasis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Toxoplasma gondii infections as manifested by recurrent or severe/invasive infection with Toxoplasma gondii, or by Toxoplasma gondii infection occurring in an unusual anatomical location.","id":"HP:5210127","name":"Unusual Toxoplasma infection","obsolete":false,"parents":["HP:0020104","HP:0020108"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual toxoplasmosis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infection involving the heart or major vessels, as manifested by recurrent or severe endocarditis, myocarditis, pericarditis, or infectious vasculitis, or by cardiovascular infection caused by an atypical or opportunistic organism.","id":"HP:5210128","name":"Unusual cardiovascular system infection","obsolete":false,"parents":["HP:0032158"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Infection of the central nervous system with Toxoplasma gondii, typically presenting as cerebral toxoplasmosis.","id":"HP:5210129","name":"Toxoplasma infection of the central nervous system (CNS)","obsolete":false,"parents":["HP:0011450","HP:5210127"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CNS encephalitis due to toxoplasma"},{"scope":"EXACT","text":"Cerebral toxoplasmosis"},{"scope":"EXACT","text":"Toxoplasma encephalitis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Leishmania infections as manifested by recurrent or severe/invasive infection with Leishmania, or by Leishmania infection occurring in an unusual anatomical location.","id":"HP:5210130","name":"Unusual Leishmania infection","obsolete":false,"parents":["HP:0020104","HP:0020108"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Leishmaniosis"},{"scope":"EXACT","text":"Unusual leishmaniasis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Leishmania infections as manifested by a severe or invasive infection with Leishmania.","id":"HP:5210131","name":"Severe Leishmania infection","obsolete":false,"parents":["HP:5210130"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated leishmaniasis"},{"scope":"EXACT","text":"Visceral leishmaniasis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Leishmania infections as manifested by recurrent episodes of Leishmania infection.","id":"HP:5210132","name":"Recurrent Leishmania infection","obsolete":false,"parents":["HP:5210130"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic leishmaniasis"},{"scope":"EXACT","text":"Recurrent leishmaniasis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to parasitic infections that rarely cause disease in immunocompetent individuals.","id":"HP:5210133","name":"Opportunistic parasitic infection","obsolete":false,"parents":["HP:0020108"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual opportunistic parasitic infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infectious cholangitis, as manifested by recurrent or severe infection of the biliary tract, or by cholangitis occurring in an unusual clinical context such as absence of cholelithiasis or biliary obstruction. Causative agents include bacteria (Escherichia coli, Klebsiella pneumoniae, Enterococcus species) and fungi (Candida species).","id":"HP:5210134","name":"Unusual cholangitis","obsolete":false,"parents":["HP:0032166"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual biliary tract infection"},{"scope":"EXACT","text":"Unusual infectious cholangitis"},{"scope":"EXACT","text":"Unusual susceptibility to cholangitis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infection of the genitourinary tract, as manifested by recurrent or severe cystitis, pyelonephritis, kidney abscess, or vaginal infection, or by genitourinary infection caused by an atypical or opportunistic organism.","id":"HP:5210135","name":"Unusual genitourinary infection","obsolete":false,"parents":["HP:0011277","HP:0032158"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to infection of the eye or its adnexa, as manifested by recurrent or severe conjunctivitis, keratitis, retinitis, or other ocular infection, or by ocular infection caused by an atypical or opportunistic organism.","id":"HP:5210137","name":"Unusual eye infection","obsolete":false,"parents":["HP:0032158"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An atypical or infrequent infectious process affecting the liver parenchyma that deviates from common viral or bacterial patterns. This may include infections caused by rare pathogens (e.g., specific fungi, parasites, or rare bacteria) or infections presenting with atypical clinical or pathological features.","id":"HP:5210138","name":"Unusual liver infection","obsolete":false,"parents":["HP:0012115","HP:0032166"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atypical hepatic infection"},{"scope":"EXACT","text":"Non-canonical liver infection"}]} +{"alt_ids":[],"definition":"Inflammation of the liver tissue caused by an infectious agent, most commonly viruses (e.g., Hepatitis A, B, C), but also potentially by bacteria, parasites, or fungi. It is characterized by diffuse involvement of the liver parenchyma.","id":"HP:5210139","name":"Infectious hepatitis","obsolete":false,"parents":["HP:5210138"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Infective liver inflammation"},{"scope":"EXACT","text":"Rare infectious liver disease"},{"scope":"EXACT","text":"Septic hepatitis"},{"scope":"EXACT","text":"Unusual infectious hepatitis"}]} +{"alt_ids":[],"definition":"Sepsis caused by bacterial infection, characterized by a dysregulated host response to a bacterial pathogen with systemic inflammation, organ dysfunction, and potential progression to septic shock.","id":"HP:5210140","name":"Bacterial sepsis","obsolete":false,"parents":["HP:0100806","HP:5210000"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bacterial bloodstream infection"}]} +{"alt_ids":[],"definition":"Sepsis caused by fungal infection, characterized by a dysregulated host response to a fungal pathogen with systemic inflammation, organ dysfunction, and potential progression to septic shock.","id":"HP:5210141","name":"Fungal sepsis","obsolete":false,"parents":["HP:0020100","HP:0100806"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fungal sepsis bloodstream infection"}]} +{"alt_ids":[],"definition":"Sepsis or sepsis-like syndrome caused by viral infection, characterized by a dysregulated host response to a viral pathogen with systemic inflammation, multi-organ involvement, and potential progression to circulatory and respiratory failure.","id":"HP:5210142","name":"Viral sepsis","obsolete":false,"parents":["HP:0034317","HP:0100806"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Viral bloodstream infection"}]} +{"alt_ids":[],"definition":"Sepsis or sepsis-like systemic illness caused by mycobacterial infection, characterized by a dysregulated host response with systemic inflammation, multi-organ involvement, and disseminated mycobacterial disease.","id":"HP:5210143","name":"Mycobacterial sepsis","obsolete":false,"parents":["HP:0100806","HP:5210110"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mycobacterial bloodstream infection"}]} +{"alt_ids":[],"definition":"Pneumonia characterized by lobar or segmental consolidation on radiographic imaging, reflecting alveolar filling with inflammatory exudate that occurs in the context of unusual susceptibility to infection.","id":"HP:5210144","name":"Pneumonia with consolidation","obsolete":false,"parents":["HP:0002090"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to cytomegalovirus (CMV) infections as manifested by severe, invasive, persistent, or disseminated CMV infection.","id":"HP:5210146","name":"Unusual cytomegalovirus infection","obsolete":false,"parents":["HP:0034317"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual CMV infection"},{"scope":"EXACT","text":"Unusual CMV postnatal infection"},{"scope":"EXACT","text":"Unusual susceptibility to CMV"}]} +{"alt_ids":[],"definition":"Increased susceptibility to pleural empyema, as manifested by recurrent or severe infection of the pleural space, or by empyema occurring in an unusual clinical context such as an atypical causative organism or failure to resolve with standard therapy.","id":"HP:5210147","name":"Unusual pleural empyema","obsolete":false,"parents":["HP:0011919","HP:5210123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual pleural infection"},{"scope":"EXACT","text":"Unusual susceptibility to empyema"}]} +{"alt_ids":[],"definition":"Increased susceptibility to pleural empyema, as manifested by a severe or life-threatening infection of the pleural space requiring surgical drainage, decortication, or intensive care.","id":"HP:5210148","name":"Severe pleural empyema","obsolete":false,"parents":["HP:5210147"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complicated pleural empyema"},{"scope":"EXACT","text":"Invasive pleural empyema"}]} +{"alt_ids":[],"definition":"Increased susceptibility to pleural empyema, as manifested by recurrent episodes of pleural space infection that are unusual in frequency for a healthy individual of the same age.","id":"HP:5210149","name":"Recurrent pleural empyema","obsolete":false,"parents":["HP:5210147"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic pleural empyema"},{"scope":"EXACT","text":"Persistent pleural empyema"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infectious endocarditis, as manifested by recurrent or severe endocardial infection, or by endocarditis caused by an unusual organism.","id":"HP:5210150","name":"Unusual endocarditis","obsolete":false,"parents":["HP:0100584","HP:5210128"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual infectious endocarditis"},{"scope":"EXACT","text":"Unusual susceptibility to endocarditis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infectious endocarditis, as manifested by severe or complicated endocarditis with valvular destruction, systemic emboli, or heart failure requiring surgical intervention.","id":"HP:5210151","name":"Severe endocarditis","obsolete":false,"parents":["HP:5210150"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complicated infectious endocarditis"},{"scope":"EXACT","text":"Invasive endocarditis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infectious endocarditis, as manifested by recurrent episodes of endocardial infection that are unusual in frequency for a healthy individual of the same age.","id":"HP:5210152","name":"Recurrent endocarditis","obsolete":false,"parents":["HP:5210150"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic endocarditis"},{"scope":"EXACT","text":"Persistent endocarditis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infectious myocarditis, as manifested by recurrent or severe inflammation of the myocardium caused by infection, or by myocarditis caused by an unusual organism.","id":"HP:5210153","name":"Unusual myocarditis","obsolete":false,"parents":["HP:0012819","HP:5210128"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual infectious myocarditis"},{"scope":"EXACT","text":"Unusual susceptibility to myocarditis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infectious myocarditis, as manifested by severe myocardial inflammation with haemodynamic compromise, arrhythmia, or fulminant heart failure.","id":"HP:5210154","name":"Severe myocarditis","obsolete":false,"parents":["HP:5210153"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fulminant myocarditis"},{"scope":"EXACT","text":"Invasive myocarditis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infectious myocarditis, as manifested by recurrent episodes of myocardial inflammation caused by infection that are unusual in frequency for a healthy individual of the same age.","id":"HP:5210155","name":"Recurrent myocarditis","obsolete":false,"parents":["HP:5210153"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic myocarditis"},{"scope":"EXACT","text":"Persistent myocarditis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infectious pericarditis, as manifested by recurrent or severe inflammation of the pericardium caused by infection, or by pericarditis caused by an unusual organism.","id":"HP:5210156","name":"Unusual pericarditis","obsolete":false,"parents":["HP:0001701","HP:5210128"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual infectious pericarditis"},{"scope":"EXACT","text":"Unusual susceptibility to pericarditis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infectious pericarditis, as manifested by severe inflammation of the pericardium with pericardial effusion, tamponade, or constrictive pericarditis.","id":"HP:5210157","name":"Severe pericarditis","obsolete":false,"parents":["HP:5210156"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complicated infectious pericarditis"},{"scope":"EXACT","text":"Pericardial tamponade due to infection"},{"scope":"EXACT","text":"Purulent pericarditis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infectious pericarditis, as manifested by recurrent episodes of pericardial inflammation caused by infection that are unusual in frequency for a healthy individual of the same age.","id":"HP:5210158","name":"Recurrent pericarditis","obsolete":false,"parents":["HP:5210156"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic pericarditis"},{"scope":"EXACT","text":"Persistent pericarditis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to vasculitis caused by infection, as manifested by recurrent or severe vascular inflammation of infectious aetiology, or by infectious vasculitis caused by an unusual organism.","id":"HP:5210159","name":"Unusual infectious vasculitis","obsolete":false,"parents":["HP:0002633","HP:5210128"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual susceptibility to infectious vasculitis"},{"scope":"EXACT","text":"Unusual vasculitis due to infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to vasculitis caused by infection, as manifested by severe vascular inflammation with ischaemia, infarction, or end-organ damage.","id":"HP:5210160","name":"Severe infectious vasculitis","obsolete":false,"parents":["HP:5210159"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complicated infectious vasculitis"},{"scope":"EXACT","text":"Invasive infectious vasculitis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to vasculitis caused by infection, as manifested by recurrent episodes of vascular inflammation of infectious etiology that are unusual in frequency for a healthy individual of the same age.","id":"HP:5210161","name":"Recurrent infectious vasculitis","obsolete":false,"parents":["HP:5210159"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic infectious vasculitis"},{"scope":"EXACT","text":"Persistent infectious vasculitis"}]} +{"alt_ids":[],"definition":"Abscess of the liver caused by bacterial infection. Principal causative agents include Escherichia coli, Klebsiella pneumoniae, Bacteroides species, and Staphylococcus aureus.","id":"HP:5210163","name":"Bacterial liver abscess","obsolete":false,"parents":["HP:0100523"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pyogenic liver abscess"}]} +{"alt_ids":[],"definition":"A liver abscess caused by Staphylococcus aureus infection that may arise from hematogenous spread, biliary infection, or contiguous spread.","id":"HP:5210164","name":"Staphylococcal liver abscess","obsolete":false,"parents":["HP:5210003","HP:5210163"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Liver abscess due to Staphylococcus aureus"}]} +{"alt_ids":[],"definition":"Abscess of the liver caused by Klebsiella species infection that occurs in the context of unusual susceptibility to infection.","id":"HP:5210165","name":"Klebsiella liver abscess","obsolete":false,"parents":["HP:5210040","HP:5210163"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A liver abscess caused by fungal infection, with common causative organisms including Candida species (often as part of hepatosplenic candidiasis) and Aspergillus species.","id":"HP:5210166","name":"Fungal liver abscess","obsolete":false,"parents":["HP:0100523"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Infection of the liver caused by Candida species that occurs in the context of unusual susceptibility to infection.","id":"HP:5210167","name":"Hepatic candidiasis","obsolete":false,"parents":["HP:5210102","HP:5210166"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Candidal liver abscess"},{"scope":"EXACT","text":"Hepatic candidal infection"}]} +{"alt_ids":[],"definition":"A liver abscess or cystic hepatic lesion caused by parasitic infection, with principal causative organisms being Entamoeba histolytica (amoebic liver abscess) and Echinococcus species (hepatic hydatid disease).","id":"HP:5210168","name":"Parasitic liver abscess","obsolete":false,"parents":["HP:0100523"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abscess of the liver caused by Entamoeba histolytica infection that occurs in the context of unusual susceptibility to infection.","id":"HP:5210169","name":"Amoebic liver abscess","obsolete":false,"parents":["HP:5210168"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hepatic amoebic abscess"},{"scope":"EXACT","text":"Liver abscess due to Entamoeba histolytica"}]} +{"alt_ids":[],"definition":"Cystic or alveolar lesion of the liver caused by Echinococcus infection that occurs in the context of unusual susceptibility to infection.","id":"HP:5210170","name":"Echinococcal liver cyst","obsolete":false,"parents":["HP:5210168"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hepatic echinococcosis"},{"scope":"EXACT","text":"Hepatic hydatid disease"},{"scope":"EXACT","text":"Hydatid cyst of the liver"}]} +{"alt_ids":[],"definition":"Infection of the liver caused by Schistosoma species, occurring in the context of unusual susceptibility to infection, typically presenting with periportal fibrosis or hepatosplenomegaly.","id":"HP:5210171","name":"Hepatic schistosomiasis","obsolete":false,"parents":["HP:5210168"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hepatosplenic schistosomiasis"},{"scope":"EXACT","text":"Schistosomal liver disease"}]} +{"alt_ids":[],"definition":"A splenic abscess caused by bacterial infection, typically with organisms such as Staphylococcus aureus, Salmonella species, and gram-negative enteric bacteria. It may arise from hematogenous seeding, contiguous spread, or trauma.","id":"HP:5210172","name":"Bacterial splenic abscess","obsolete":false,"parents":["HP:0025059","HP:5210000"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A splenic abscess caused by fungal infection, often as part of hepatosplenic candidiasis.","id":"HP:5210173","name":"Fungal splenic abscess","obsolete":false,"parents":["HP:0020100","HP:0025059"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A splenic abscess or cystic splenic lesion caused by parasitic infection, with causative organisms including Echinococcus species (splenic hydatid disease) and Entamoeba histolytica.","id":"HP:5210174","name":"Parasitic splenic abscess","obsolete":false,"parents":["HP:0020108","HP:0025059"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased susceptibility to gastroenteritis of infectious etiology, as manifested by a recurrent or severe gastroenteritis, a prolonged diarrhoeal illness, or a gastroenteritis caused by an atypical or opportunistic organism.","id":"HP:5210175","name":"Unusual infectious gastroenteritis","obsolete":false,"parents":["HP:0032166"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual infectious infection of the gastrointestinal tract"}]} +{"alt_ids":[],"definition":"A gastroenteritis caused by bacterial infection, with common causative organisms including Salmonella species, Shigella species, Campylobacter, and pathogenic Escherichia coli.","id":"HP:5210176","name":"Unusual bacterial gastroenteritis","obsolete":false,"parents":["HP:5210000","HP:5210175"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A gastroenteritis caused by viral infection, with common causative organisms including rotavirus, norovirus, adenovirus, astrovirus, and enterovirus.","id":"HP:5210177","name":"Unusual viral gastroenteritis","obsolete":false,"parents":["HP:0034317","HP:5210175"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A gastroenteritis caused by fungal infection, most often by Candida species. A fungal gastroenteritis can occur in any host with severely disrupted mucosal immunity or following prolonged broad-spectrum antibiotic exposure, and can be a manifestation of unusual susceptibility to infection.","id":"HP:5210178","name":"Unusual fungal gastroenteritis","obsolete":false,"parents":["HP:0020100","HP:5210175"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A gastroenteritis caused by parasitic infection, with causative organisms including Giardia lamblia, Cryptosporidium species, and Microsporidia.","id":"HP:5210179","name":"Unusual parasitic gastroenteritis","obsolete":false,"parents":["HP:0020108","HP:5210175"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased susceptibility to colitis of infectious etiology, as manifested by a recurrent or severe colonic infection, or by an infectious colitis caused by an atypical or opportunistic organism.","id":"HP:5210180","name":"Unusual infectious colitis","obsolete":false,"parents":["HP:0002583","HP:0032166"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A colitis caused by bacterial infection, with common causative organisms including Salmonella, Shigella, Campylobacter, enteroinvasive Escherichia coli, and Clostridioides difficile.","id":"HP:5210181","name":"Unusual bacterial colitis","obsolete":false,"parents":["HP:5210000","HP:5210180"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A colitis caused by viral infection, with causative organisms including cytomegalovirus, adenovirus, norovirus, and enterovirus.","id":"HP:5210182","name":"Unusual viral colitis","obsolete":false,"parents":["HP:0034317","HP:5210180"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A colitis caused by fungal infection, most commonly by Candida species.","id":"HP:5210183","name":"Unusual fungal colitis","obsolete":false,"parents":["HP:0020100","HP:5210180"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A colitis caused by parasitic infection, with causative organisms including Entamoeba histolytica, Cryptosporidium species, and Strongyloides stercoralis.","id":"HP:5210184","name":"Unusual parasitic colitis","obsolete":false,"parents":["HP:0020108","HP:5210180"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased susceptibility to pancreatitis of infectious etiology, as manifested by a recurrent or severe infectious pancreatitis, or by a pancreatitis caused by an atypical or opportunistic organism.","id":"HP:5210185","name":"Unusual infectious pancreatitis","obsolete":false,"parents":["HP:0001733","HP:0032166"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A pancreatitis caused by bacterial infection, which may occur as a complication of bacteraemia, ascending biliary infection, or invasive abdominal infection.","id":"HP:5210186","name":"Unusual bacterial pancreatitis","obsolete":false,"parents":["HP:5210000","HP:5210185"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A pancreatitis caused by viral infection, with causative organisms including mumps virus, cytomegalovirus, coxsackievirus, and other enteroviruses.","id":"HP:5210187","name":"Unusual viral pancreatitis","obsolete":false,"parents":["HP:0034317","HP:5210185"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A pancreatitis caused by fungal infection. Such cases are rare and typically occur as a manifestation of disseminated invasive fungal disease (with Candida or Aspergillus species) in severely immunocompromised hosts.","id":"HP:5210188","name":"Unusual fungal pancreatitis","obsolete":false,"parents":["HP:0020100","HP:5210185"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A pancreatitis caused by parasitic infection, with causative organisms including Cryptosporidium species, Ascaris lumbricoides, and Echinococcus species.","id":"HP:5210189","name":"Unusual parasitic pancreatitis","obsolete":false,"parents":["HP:0020108","HP:5210185"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to bacterial cholangitis, as manifested by recurrent or severe infection of the biliary tract, or by cholangitis occurring in an unusual clinical context such as absence of cholelithiasis or biliary obstruction. Principal causative agents include Escherichia coli, Klebsiella pneumoniae, and Enterococcus species.","id":"HP:5210190","name":"Unusual bacterial cholangitis","obsolete":false,"parents":["HP:5210134"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent bacterial cholangitis"},{"scope":"EXACT","text":"Unusual ascending cholangitis"},{"scope":"EXACT","text":"Unusual susceptibility to bacterial cholangitis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to cystitis, as manifested by recurrent or severe infection of the urinary bladder, or by cystitis caused by an atypical or opportunistic organism.","id":"HP:5210191","name":"Unusual cystitis","obsolete":false,"parents":["HP:5210135"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bladder inflammation"},{"scope":"EXACT","text":"Cystitis"},{"scope":"EXACT","text":"Infection of the bladder"}]} +{"alt_ids":[],"definition":"Increased susceptibility to haemorrhagic cystitis, as manifested by recurrent or severe bladder infection with frank haematuria caused by viral or other atypical organisms. Its occurrence is inherently unusual and can indicate significant immune deficiency.","id":"HP:5210192","name":"Unusual hemorrhagic cystitis","obsolete":false,"parents":["HP:5210101","HP:5210191"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual haemorrhagic cystitis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to fungal cystitis, as manifested by recurrent or severe infection of the urinary bladder caused by fungal organisms.","id":"HP:5210193","name":"Unusual fungal cystitis","obsolete":false,"parents":["HP:0032255","HP:5210191"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to bacterial cystitis, as manifested by recurrent or severe infection of the urinary bladder caused by bacteria, or by bacterial cystitis caused by an atypical organism.","id":"HP:5210194","name":"Unusual bacterial cystitis","obsolete":false,"parents":["HP:5210000","HP:5210191"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An inflammation of the kidney involving the renal parenchyma, pelvis, and calices, occurring in a manner unusual for a healthy individual of the same age, as manifested by recurrent or severe episodes of pyelonephritis, or by pyelonephritis caused by an atypical or opportunistic organism","id":"HP:5210195","name":"Unusual pyelonephritis","obsolete":false,"parents":["HP:0012330","HP:5210135"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atypical pyelonephritis"}]} +{"alt_ids":[],"definition":"Abscess of the kidney occurring in the context of unusual susceptibility to infection, as manifested by renal abscess caused by an atypical or opportunistic organism, or by renal abscess occurring in the absence of the usual predisposing factors such as urinary tract obstruction or urolithiasis.","id":"HP:5210196","name":"Unusual kidney abscess","obsolete":false,"parents":["HP:0012210","HP:5210135"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual renal abscess"}]} +{"alt_ids":[],"definition":"Abscess of the kidney caused by bacterial infection that occurs in the context of unusual susceptibility to infection.","id":"HP:5210197","name":"Bacterial kidney abscess","obsolete":false,"parents":["HP:5210196"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bacterial perinephric abscess"},{"scope":"EXACT","text":"Bacterial renal abscess"},{"scope":"EXACT","text":"Pyogenic renal abscess"}]} +{"alt_ids":[],"definition":"Abscess of the kidney caused by fungal infection that occurs in the context of unusual susceptibility to infection.","id":"HP:5210198","name":"Fungal kidney abscess","obsolete":false,"parents":["HP:5210196"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Candidal renal abscess"},{"scope":"EXACT","text":"Fungal renal abscess"},{"scope":"EXACT","text":"Renal candidiasis"}]} +{"alt_ids":[],"definition":"Abscess of the kidney caused by parasitic infection that occurs in the context of unusual susceptibility to infection.","id":"HP:5210199","name":"Parasitic kidney abscess","obsolete":false,"parents":["HP:5210196"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Echinococcal renal cyst"},{"scope":"EXACT","text":"Parasitic renal abscess"},{"scope":"EXACT","text":"Renal hydatid cyst"}]} +{"alt_ids":[],"definition":"Increased susceptibility to vaginal infection, as manifested by recurrent or severe infection of the vagina or vulvovaginal area caused by bacterial, viral, fungal, or parasitic organisms, or by vaginal infection caused by an atypical or opportunistic organism.","id":"HP:5210200","name":"Unusual vaginal infection","obsolete":false,"parents":["HP:5210135"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to bacterial vaginal infection, as manifested by recurrent or severe bacterial vaginosis or vaginal bacterial infection that is unusual in frequency or severity for a healthy individual of the same age.","id":"HP:5210201","name":"Unusual bacterial vaginal infection","obsolete":false,"parents":["HP:5210000","HP:5210200"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to viral vaginal infection, as manifested by recurrent or severe herpes simplex virus (HSV) infection of the vaginal or vulvovaginal area that can occur in the context of immune deficiency.","id":"HP:5210202","name":"Unusual viral vaginal infection","obsolete":false,"parents":["HP:5210200"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to vulvovaginal candidiasis, as manifested by recurrent or severe infection of the vagina or vulvovaginal area caused by Candida species. Predominantly caused by Candida albicans, with Candida glabrata in azole-resistant cases.","id":"HP:5210203","name":"Unusual fungal vaginal infection","obsolete":false,"parents":["HP:0032255","HP:5210200"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to parasitic vaginal infection, as manifested by recurrent or severe trichomoniasis or other parasitic vaginal infection. A common causative agent is Trichomonas vaginalis, which has been documented in immunocompromised hosts.","id":"HP:5210204","name":"Unusual parasitic vaginal infection","obsolete":false,"parents":["HP:0020108","HP:5210200"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An osteomyelitis caused by bacterial infection, with common causative organisms including Staphylococcus aureus, Streptococcus species, and gram-negative bacilli such as Salmonella and Serratia marcescens.","id":"HP:5210205","name":"Unusual bacterial osteomyelitis","obsolete":false,"parents":["HP:5210000","HP:5210278"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An osteomyelitis caused by fungal infection, with causative organisms including Candida species, Aspergillus species, and the dimorphic fungi.","id":"HP:5210206","name":"Unusual fungal osteomyelitis","obsolete":false,"parents":["HP:0020100","HP:5210278"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased susceptibility to arthritis of infectious etiology, as manifested by a recurrent or severe septic arthritis, or by an infectious arthritis caused by an atypical or opportunistic organism.","id":"HP:5210207","name":"Unusual infectious arthritis","obsolete":false,"parents":["HP:0001369","HP:5210277"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An arthritis caused by bacterial infection, with common causative organisms including Staphylococcus aureus, Streptococcus species, Neisseria gonorrhoeae, and Haemophilus influenzae.","id":"HP:5210208","name":"Unusual bacterial arthritis","obsolete":false,"parents":["HP:5210000","HP:5210207"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bacterial septic arthritis"}]} +{"alt_ids":[],"definition":"An arthritis caused by fungal infection, with causative organisms including Candida species, Aspergillus species, and Cryptococcus.","id":"HP:5210209","name":"Unusual fungal arthritis","obsolete":false,"parents":["HP:0020100","HP:5210207"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An arthritis caused by mycobacterial infection, with causative organisms including Mycobacterium tuberculosis (tuberculous arthritis) and non-tuberculous mycobacteria.","id":"HP:5210210","name":"Unusual mycobacterial arthritis","obsolete":false,"parents":["HP:5210110","HP:5210207"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased susceptibility to myositis of infectious aetiology, as manifested by a recurrent or severe inflammation of skeletal muscle caused by infection, or by an infectious myositis caused by an atypical or opportunistic organism. Common causative organisms include Staphylococcus aureus (pyomyositis), Streptococcus pyogenes, and Clostridium species (gas gangrene), as well as viral, fungal, and parasitic agents.","id":"HP:5210211","name":"Unusual infectious myositis","obsolete":false,"parents":["HP:0100614","HP:5210277"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A myositis caused by bacterial infection, with common causative organisms including Staphylococcus aureus (pyomyositis) and Streptococcus species.","id":"HP:5210212","name":"Unusual bacterial myositis","obsolete":false,"parents":["HP:5210000","HP:5210211"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A myositis caused by fungal infection, with causative organisms including Candida species, Aspergillus species, and the Mucorales. A fungal myositis is rare and typically a manifestation of severe immunocompromise.","id":"HP:5210213","name":"Unusual fungal myositis","obsolete":false,"parents":["HP:0020100","HP:5210211"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A myositis caused by mycobacterial infection, with causative organisms including Mycobacterium tuberculosis and non-tuberculous mycobacteria.","id":"HP:5210214","name":"Unusual mycobacterial myositis","obsolete":false,"parents":["HP:5210110","HP:5210211"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A myositis caused by viral infection, with causative organisms including enterovirus, influenza virus, coxsackievirus, and HIV.","id":"HP:5210215","name":"Unusual viral myositis","obsolete":false,"parents":["HP:0034317","HP:5210211"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A meningitis caused by viral infection, with common causative organisms including herpes simplex virus, varicella-zoster virus, enterovirus, and CMV. A recurrent or chronic viral meningitis (particularly chronic enteroviral meningoencephalitis) can be a manifestation of unusual susceptibility to infection.","id":"HP:5210216","name":"Viral meningitis","obsolete":false,"parents":["HP:0001287","HP:0034317"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A meningitis caused by bacterial infection, with common causative organisms including Streptococcus pneumoniae, Neisseria meningitidis, and Haemophilus influenzae type b. A recurrent or invasive bacterial meningitis with encapsulated organisms can be a manifestation of unusual susceptibility to infection, particularly in antibody deficiencies, complement deficiencies, and asplenia.","id":"HP:5210217","name":"Bacterial meningitis","obsolete":false,"parents":["HP:0001287","HP:5210000"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A meningitis caused by parasitic infection, with causative organisms including Toxoplasma gondii, Acanthamoeba, and Naegleria fowleri. A parasitic meningitis can be a manifestation of unusual susceptibility to infection.","id":"HP:5210218","name":"Parasitic meningitis","obsolete":false,"parents":["HP:0001287","HP:0020108"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A meningitis caused by mycobacterial infection, with the principal causative organism being Mycobacterium tuberculosis (tuberculous meningitis). A non-tuberculous mycobacterial meningitis is rare and can be a manifestation of unusual susceptibility to infection, particularly in Mendelian susceptibility to mycobacterial disease.","id":"HP:5210219","name":"Mycobacterial meningitis","obsolete":false,"parents":["HP:0001287","HP:5210110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An encephalitis caused by fungal infection, with causative organisms including Cryptococcus neoformans, Aspergillus species, Candida species, and the Mucorales. A fungal encephalitis is most often a manifestation of disseminated invasive fungal disease in severely immunocompromised hosts.","id":"HP:5210220","name":"Fungal encephalitis","obsolete":false,"parents":["HP:0002383","HP:0020100"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An encephalitis caused by parasitic infection, with causative organisms including Toxoplasma gondii (toxoplasmic encephalitis), Acanthamoeba, and Naegleria fowleri. A parasitic encephalitis can be a manifestation of unusual susceptibility to infection.","id":"HP:5210221","name":"Parasitic encephalitis","obsolete":false,"parents":["HP:0002383","HP:0020108"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An encephalitis caused by mycobacterial infection, with the principal causative organism being Mycobacterium tuberculosis (tuberculous encephalitis, often as part of CNS tuberculosis). A mycobacterial encephalitis can be a manifestation of unusual susceptibility to infection, particularly in Mendelian susceptibility to mycobacterial disease.","id":"HP:5210222","name":"Mycobacterial encephalitis","obsolete":false,"parents":["HP:0002383","HP:5210110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A brain abscess caused by bacterial infection, with causative organisms including Staphylococcus aureus, Streptococcus species, anaerobes, and gram-negative bacilli. It may arise from contiguous spread (sinusitis, otitis) or hematogenous seeding, and a bacterial brain abscess can be a manifestation of unusual susceptibility to infection, particularly in phagocyte defects.","id":"HP:5210223","name":"Bacterial brain abscess","obsolete":false,"parents":["HP:0030049","HP:5210000"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A brain abscess caused by fungal infection, with causative organisms including Aspergillus species, Cryptococcus, Candida, and the Mucorales. A fungal brain abscess is most often a manifestation of disseminated invasive fungal disease in severely immunocompromised hosts.","id":"HP:5210224","name":"Fungal brain abscess","obsolete":false,"parents":["HP:0020100","HP:0030049"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A brain abscess caused by parasitic infection, with causative organisms including Toxoplasma gondii, Entamoeba histolytica, and Echinococcus species. A parasitic brain abscess can be a manifestation of unusual susceptibility to infection.","id":"HP:5210225","name":"Parasitic brain abscess","obsolete":false,"parents":["HP:0020108","HP:0030049"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A brain abscess caused by mycobacterial infection, with the classic manifestation being a tuberculoma caused by Mycobacterium tuberculosis. A mycobacterial brain abscess can be a manifestation of unusual susceptibility to infection, particularly in Mendelian susceptibility to mycobacterial disease.","id":"HP:5210226","name":"Mycobacterial brain abscess","obsolete":false,"parents":["HP:0030049","HP:5210110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to infection of the spinal cord, as manifested by infectious myelitis, spinal epidural or intradural abscess, or spinal cord compression due to infectious spondylodiscitis occuring in an unusual clinical context such as an atypical causative organism, absence of the usual predisposing factors, or by occurrence in the context of immune deficiency. Principal causative agents include bacteria (Staphylococcus aureus, Escherichia coli, Mycobacterium tuberculosis), fungi (Aspergillus species, Candida species), and viruses (enteroviruses, VZV, CMV).","id":"HP:5210227","name":"Unusual spinal cord infection","obsolete":false,"parents":["HP:0011450"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Infectious myelitis"},{"scope":"EXACT","text":"Infectious spinal cord compression"},{"scope":"EXACT","text":"Spinal cord abscess"},{"scope":"EXACT","text":"Spinal intradural abscess"},{"scope":"EXACT","text":"Unusual myelitis"}]} +{"alt_ids":[],"definition":"An increased susceptibility to bacterial infection of the skin, as manifested by a recurrent or severe cutaneous bacterial infection, or by a skin infection caused by an atypical or opportunistic organism. Common causative organisms include Staphylococcus aureus and Streptococcus species. A recurrent bacterial skin infection can be a manifestation of phagocyte defects, hyper-IgE syndrome, and atopic dermatitis-related immune defects.","id":"HP:5210228","name":"Unusual bacterial skin infection","obsolete":false,"parents":["HP:0032162","HP:5210000"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to bacterial skin abscesses, as manifested by recurrent, multifocal, or unusually severe collections of pus within the dermis or deeper skin layers. While common causative organisms include Staphylococcus aureus and Streptococcus species, this term also encompasses abscesses caused by opportunistic or atypical bacteria, or those that are refractory to standard antibiotic therapy.","id":"HP:5210229","name":"Unusual bacterial skin abscess","obsolete":false,"parents":["HP:0031292","HP:5210228"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual skin abscess"}]} +{"alt_ids":[],"definition":"A recurrent infection of hair follicles producing furuncles (boils), with common causative organisms being Staphylococcus aureus and Streptococcus species. A recurrent boil can be a manifestation of unusual susceptibility to infection, particularly in chronic granulomatous disease, hyper-IgE syndrome (STAT3 deficiency), leukocyte adhesion deficiency, and atopic dermatitis-related immune defects.","id":"HP:5210230","name":"Recurrent boils","obsolete":false,"parents":["HP:5210228"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent folliculitis"},{"scope":"EXACT","text":"Recurrent furuncles"}]} +{"alt_ids":[],"definition":"A cellulitis caused by bacterial infection of the dermis and subcutaneous tissue, with common causative organisms including Streptococcus pyogenes and Staphylococcus aureus.","id":"HP:5210231","name":"Bacterial cellulitis","obsolete":false,"parents":["HP:5210228"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent cellulitis"},{"scope":"EXACT","text":"Unusual bacterial cellulitis"}]} +{"alt_ids":[],"definition":"An increased susceptibility to viral infection of the skin, as manifested by a recurrent or severe cutaneous viral infection, or by a skin infection caused by an atypical or opportunistic organism. Common causative organisms include herpes simplex virus, varicella-zoster virus, human papillomavirus, and Molluscum contagiosum.","id":"HP:5210232","name":"Unusual viral skin infection","obsolete":false,"parents":["HP:0032162"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A herpes simplex virus (HSV) infection of the skin, which may present as localised vesicular lesions in any host. A severe, persistent, or disseminated cutaneous HSV infection (including eczema herpeticum and chronic ulcerative herpes) can be a manifestation of unusual susceptibility to infection.","id":"HP:5210233","name":"Unusual HSV skin infection","obsolete":false,"parents":["HP:5210232","HP:5210240"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cutaneous herpes"},{"scope":"EXACT","text":"Herpes simplex skin infection"},{"scope":"EXACT","text":"Unusual Herpes simplex skin infection"}]} +{"alt_ids":[],"definition":"An increased susceptibility to parasitic infection of the skin or subcutaneous tissue, as manifested by a recurrent, severe, or atypically distributed parasitic skin lesion, or by a cutaneous parasitic infection occurring in an unusual clinical context. Causative organisms include Leishmania species, Onchocerca volvulus, and Ancylostoma species. An atypical or disseminated cutaneous leishmaniasis can be a manifestation of unusual susceptibility to infection.","id":"HP:5210234","name":"Unusual parasitic skin infection","obsolete":false,"parents":["HP:0020108","HP:0032162"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Varicella-zoster virus (VZV) skin infection including chickenpox or herpes zoster that is unusually severe or persistent.","id":"HP:5210235","name":"Unusual VZV skin infection","obsolete":false,"parents":["HP:5210116","HP:5210232"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chickenpox"},{"scope":"EXACT","text":"Varicella-zoster virus skin infection"},{"scope":"EXACT","text":"Zoster"}]} +{"alt_ids":[],"definition":"An increased susceptibility to fungal infection of the skin or subcutaneous tissue, as manifested by a recurrent, severe, or atypically distributed fungal lesion, or by an infection caused by an atypical or opportunistic organism. Common manifestations include chronic mucocutaneous candidiasis or subcutaneous mycoses (such as sporotrichosis caused by Sporothrix species.","id":"HP:5210236","name":"Unusual fungal skin infection","obsolete":false,"parents":["HP:0020100","HP:0032162"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Recurrent nappy (diaper) rash of infectious aetiology, typically caused by Candida.","id":"HP:5210237","name":"Recurrent diaper rash","obsolete":false,"parents":["HP:0011370","HP:5210236"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent candidal nappy rash"},{"scope":"EXACT","text":"Recurrent diaper dermatitis"},{"scope":"EXACT","text":"Recurrent nappy rash"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infection of the nail apparatus, including the nail plate, nail bed, nail matrix, and proximal nail fold, as manifested by recurrent or severe nail infection, or by nail infection caused by an atypical or opportunistic organism.","id":"HP:5210238","name":"Unusual nail infection","obsolete":false,"parents":["HP:0032162"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual nail apparatus infection"},{"scope":"EXACT","text":"Unusual susceptibility to nail infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to bacterial infection of the nail bed and proximal nail fold (paronychia), as manifested by recurrent or severe episodes that are unusual in frequency or severity for a healthy individual of the same age. Principal causative agents include Staphylococcus aureus and Streptococcus species.","id":"HP:5210239","name":"Unusual bacterial nail bed infection","obsolete":false,"parents":["HP:5210228","HP:5210238"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent paronychia"},{"scope":"EXACT","text":"Unusual bacterial paronychia"},{"scope":"EXACT","text":"Unusual nail fold infection"},{"scope":"EXACT","text":"Unusual paronychia"}]} +{"alt_ids":[],"definition":"Increased susceptibility to herpes simplex virus (HSV) infections as manifested by recurrent or severe/invasive infection with HSV, or occurring in an unusual anatomical location.","id":"HP:5210240","name":"Unusual HSV infection","obsolete":false,"parents":["HP:0034317"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual herpes simplex virus infection"},{"scope":"EXACT","text":"Unusual susceptibility to HSV"}]} +{"alt_ids":[],"definition":"Increased susceptibility to recurrent fungal nail infection (onychomycosis), as manifested by recurrent or persistent infection of the nail plate, nail bed, or nail matrix caused by dermatophytes (Trichophyton species) or Candida species.","id":"HP:5210241","name":"Recurrent onychomycosis","obsolete":false,"parents":["HP:0002841","HP:0012203"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic nail candidiasis"},{"scope":"EXACT","text":"Chronic onychomycosis"},{"scope":"EXACT","text":"Recurrent fungal nail infection"}]} +{"alt_ids":[],"definition":"An increased susceptibility to mycobacterial infection of the skin, as manifested by persistent, disseminated, or multifocal cutaneous lesions occurring in an unusual clinical context. This includes skin involvement in tuberculosis (Mycobacterium tuberculosis) or infections caused by atypical mycobacteria (nontuberculous mycobacteria), such as M. marinum, M. avium complex, or M. chelonae.","id":"HP:5210242","name":"Unusual mycobacterial skin infection","obsolete":false,"parents":["HP:0032162","HP:5210110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to infection of the fascia and surrounding soft tissue, as manifested by necrotizing fasciitis or other invasive fascial infection occurring in an unusual clinical context. Necrotizing fasciitis is a rapidly progressive, life-threatening infection of the superficial fascia and subcutaneous tissue.","id":"HP:5210243","name":"Unusual fascia infection","obsolete":false,"parents":["HP:0100537","HP:5210277"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Invasive fascial infection"},{"scope":"EXACT","text":"Unusual necrotising fasciitis"},{"scope":"EXACT","text":"Unusual necrotizing fasciitis"},{"scope":"EXACT","text":"Unusual soft tissue necrotizing infection"}]} +{"alt_ids":[],"definition":"Infestation of the skin by migrating hookworm larvae (principally Ancylostoma braziliense and Ancylostoma caninum), causing serpiginous, pruritic, erythematous cutaneous tracks. Although typically self-limited in immunocompetent hosts, cutaneous larva migrans may follow a prolonged or atypical course in the context of immune deficiency, including HIV/AIDS and other T-cell defects.","id":"HP:5210244","name":"Unusual cutaneous larva migrans","obsolete":false,"parents":["HP:5210234"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CLM"},{"scope":"EXACT","text":"Creeping eruption"},{"scope":"EXACT","text":"Hookworm-related cutaneous larva migrans"}]} +{"alt_ids":[],"definition":"Infection of the skin and subcutaneous tissue by Leishmania species, as manifested by cutaneous or mucocutaneous leishmaniasis occurring in the context of unusual susceptibility to infection. Cutaneous leishmaniasis presents with chronic, non-healing ulcerative skin lesions.","id":"HP:5210245","name":"Unusual cutaneous leishmaniasis","obsolete":false,"parents":["HP:0007408","HP:5210234"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual mucocutaneous leishmaniasis"},{"scope":"EXACT","text":"Unusual susceptibility to cutaneous Leishmania infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to gingivitis, as manifested by severe or necrotising gingival infection, including necrotising ulcerative gingivitis, associated with significant tissue destruction.","id":"HP:5210246","name":"Severe gingivitis","obsolete":false,"parents":["HP:0000230"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Invasive gingivitis"},{"scope":"EXACT","text":"Necrotising ulcerative gingivitis"},{"scope":"EXACT","text":"Necrotizing gingivitis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to periodontitis, as manifested by recurrent or chronic periodontal infection that is unusual in frequency or severity for a healthy individual of the same age","id":"HP:5210247","name":"Recurrent periodontitis","obsolete":false,"parents":["HP:0020341"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic periodontitis"},{"scope":"EXACT","text":"Persistent periodontitis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to dental abscess, as manifested by a severe or invasive dental abscess with systemic spread or requiring hospitalisation.","id":"HP:5210248","name":"Severe dental abscess","obsolete":false,"parents":["HP:0030757"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated dental abscess"},{"scope":"EXACT","text":"Invasive dental abscess"},{"scope":"EXACT","text":"Severe tooth abscess"}]} +{"alt_ids":[],"definition":"Increased susceptibility to dental abscess, as manifested by recurrent episodes of dental abscesses that are unusual in frequency for a healthy individual of the same age.","id":"HP:5210249","name":"Recurrent dental abscesses","obsolete":false,"parents":["HP:0030757"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic dental abscess"},{"scope":"EXACT","text":"Persistent dental abscess"},{"scope":"EXACT","text":"Recurrent tooth abscesses"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infectious stomatitis, as manifested by severe or invasive oral mucosal infection causing necrosis or aphthous ulceration of tissue, or requiring systemic antiviral or antimicrobial therapy.","id":"HP:5210250","name":"Severe stomatitis","obsolete":false,"parents":["HP:0020342"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Invasive stomatitis"},{"scope":"EXACT","text":"Necrotizing stomatitis"},{"scope":"EXACT","text":"Severe infectious stomatitis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infectious stomatitis, as manifested by recurrent episodes of oral mucosal infection that are unusual in frequency or severity for a healthy individual of the same age.","id":"HP:5210251","name":"Recurrent stomatitis","obsolete":false,"parents":["HP:0020342"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic stomatitis"},{"scope":"EXACT","text":"Persistent stomatitis"},{"scope":"EXACT","text":"Recurrent infectious stomatitis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to oral candidiasis caused by Candida albicans, as manifested by recurrent or severe infection of the oral mucosa, or by oral thrush occurring beyond the neonatal period without an identifiable predisposing cause.","id":"HP:5210252","name":"Unusual oral thrush","obsolete":false,"parents":["HP:5210102","HP:5210280"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual oral candidiasis"},{"scope":"EXACT","text":"Unusual oropharyngeal candidiasis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to oral candidiasis, as manifested by severe or invasive oropharyngeal infection with Candida albicans, including extension to the oesophagus or systemic spread.","id":"HP:5210253","name":"Severe oral thrush","obsolete":false,"parents":["HP:5210252"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Invasive oral candidiasis"},{"scope":"EXACT","text":"Severe oropharyngeal candidiasis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to pharyngitis, as manifested by a severe episode of pharyngeal infection requiring hospitalisation or intravenous antimicrobial therapy, or complicated by peritonsillar abscess, retropharyngeal abscess, or invasive spread.","id":"HP:5210254","name":"Severe pharyngitis","obsolete":false,"parents":["HP:0020343"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Invasive pharyngitis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to otitis media, as manifested by a severe episode of middle ear infection requiring hospitalisation, intravenous antibiotics, or surgical intervention, or complicated by mastoiditis, meningitis, or other invasive spread.","id":"HP:5210255","name":"Severe otitis media","obsolete":false,"parents":["HP:0000388"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Complicated otitis media"},{"scope":"EXACT","text":"Invasive otitis media"}]} +{"alt_ids":[],"definition":"Increased susceptibility to otitis externa, as manifested by a severe or invasive infection of the external ear canal, including necrotising (malignant) otitis externa with involvement of surrounding bone or soft tissue.","id":"HP:5210256","name":"Severe otitis externa","obsolete":false,"parents":["HP:0410017"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Invasive otitis externa"},{"scope":"EXACT","text":"Malignant otitis externa"},{"scope":"EXACT","text":"Necrotising otitis externa"}]} +{"alt_ids":[],"definition":"Increased susceptibility to otitis externa, as manifested by recurrent episodes of infection of the external ear canal that are unusual in frequency or severity for a healthy individual of the same age.","id":"HP:5210257","name":"Recurrent otitis externa","obsolete":false,"parents":["HP:0410017"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic otitis externa"},{"scope":"EXACT","text":"Persistent otitis externa"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infectious conjunctivitis, as manifested by recurrent or severe infection of the conjunctiva, or by conjunctivitis caused by an atypical or opportunistic organism.","id":"HP:5210258","name":"Unusual conjunctivitis","obsolete":false,"parents":["HP:5210101","HP:5210137"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual infectious conjunctivitis"},{"scope":"EXACT","text":"Unusual susceptibility to conjunctivitis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infectious conjunctivitis, as manifested by a severe episode with corneal involvement (keratoconjunctivitis), subepithelial infiltrates, or requiring systemic antiviral or antimicrobial therapy.","id":"HP:5210259","name":"Severe conjunctivitis","obsolete":false,"parents":["HP:5210258"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Epidemic keratoconjunctivitis (severe)"},{"scope":"EXACT","text":"Invasive conjunctivitis"},{"scope":"EXACT","text":"Severe infectious keratoconjunctivitis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infectious conjunctivitis, as manifested by recurrent episodes of conjunctival infection that are unusual in frequency for a healthy individual of the same age.","id":"HP:5210260","name":"Recurrent conjunctivitis","obsolete":false,"parents":["HP:5210258"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic conjunctivitis"},{"scope":"EXACT","text":"Persistent conjunctivitis"},{"scope":"EXACT","text":"Recurrent infectious conjunctivitis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infectious keratitis, as manifested by recurrent or severe infection of the cornea, or by keratitis caused by an atypical or opportunistic organism.","id":"HP:5210261","name":"Unusual keratitis","obsolete":false,"parents":["HP:5210137"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual corneal infection"},{"scope":"EXACT","text":"Unusual herpetic keratitis"},{"scope":"EXACT","text":"Unusual infectious keratitis"},{"scope":"EXACT","text":"Unusual susceptibility to keratitis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infectious keratitis, as manifested by a severe episode of corneal infection with stromal involvement, corneal ulceration, perforation, or significant visual impairment.","id":"HP:5210262","name":"Severe keratitis","obsolete":false,"parents":["HP:5210261"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Corneal ulceration due to infection"},{"scope":"EXACT","text":"Invasive keratitis"},{"scope":"EXACT","text":"Necrotising keratitis"},{"scope":"EXACT","text":"Severe herpetic keratitis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infectious keratitis, as manifested by recurrent episodes of corneal infection that are unusual in frequency for a healthy individual of the same age.","id":"HP:5210263","name":"Recurrent keratitis","obsolete":false,"parents":["HP:5210261"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic keratitis"},{"scope":"EXACT","text":"Persistent keratitis"},{"scope":"EXACT","text":"Recurrent herpes simplex keratitis"},{"scope":"EXACT","text":"Recurrent herpetic keratitis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infectious retinitis, as manifested by recurrent or severe infection of the retina, or by retinitis caused by an atypical or opportunistic organism.","id":"HP:5210264","name":"Unusual retinitis","obsolete":false,"parents":["HP:5210137"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual infectious retinitis"},{"scope":"EXACT","text":"Unusual susceptibility to retinitis"},{"scope":"EXACT","text":"Unusual viral retinitis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infectious retinitis, as manifested by severe or extensive retinal infection with rapid progression, retinal detachment, or significant visual loss.","id":"HP:5210265","name":"Severe retinitis","obsolete":false,"parents":["HP:5210264"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Invasive retinitis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to infectious retinitis, as manifested by recurrent episodes of retinal infection that are unusual in frequency for a healthy individual of the same age.","id":"HP:5210266","name":"Recurrent retinitis","obsolete":false,"parents":["HP:5210264"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic retinitis"},{"scope":"EXACT","text":"Persistent retinitis"},{"scope":"EXACT","text":"Recurrent infectious retinitis"}]} +{"alt_ids":[],"definition":"A family history (in a first- or second-degree relative) of unusually severe, recurrent, or opportunistic infection.","id":"HP:5210267","name":"Family history of unusual infection","obsolete":false,"parents":["HP:0032316"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Family history of recurrent infection"},{"scope":"EXACT","text":"Family history of severe infection"}]} +{"alt_ids":[],"definition":"A family history (in a first- or second-degree relative) of an immune deficiency.","id":"HP:5210268","name":"Family history of immune deficiency","obsolete":false,"parents":["HP:0032316"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Familiy history of an immunodeficiency"},{"scope":"EXACT","text":"Familiy history of primary immunodeficiency disorders (PID)"},{"scope":"EXACT","text":"Family history of an inborn error of imunity (IEI)"}]} +{"alt_ids":[],"definition":"A family history (in a first- or second-degree relative) of an autoimmune disease.","id":"HP:5210269","name":"Family history of autoimmunity","obsolete":false,"parents":["HP:0032316"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Family history of autoimmune disease"}]} +{"alt_ids":[],"definition":"A family history of death of a first- or second-degree relative caused by infection.","id":"HP:5210270","name":"Family history of death due to infection","obsolete":false,"parents":["HP:0032316"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Family history of fatal infection"}]} +{"alt_ids":[],"definition":"A family history (in a first- or second-degree relative) of a lymphoma.","id":"HP:5210271","name":"Family history of lymphoma","obsolete":false,"parents":["HP:0032317"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A family history (in a first- or second-degree relative) of a leukaemia.","id":"HP:5210272","name":"Family history of leukaemia","obsolete":false,"parents":["HP:0032317"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A maternal history of recurrent miscarriage, defined as two or more pregnancy losses.","id":"HP:5210273","name":"Maternal history of recurrent miscarriage","obsolete":false,"parents":["HP:0032316"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Maternal history of recurrent spontaneous abortion"}]} +{"alt_ids":[],"definition":"Death of a sibling that remains unexplained despite investigation, which may indicate an undiagnosed disease in the family.","id":"HP:5210274","name":"Unexplained sibling death","obsolete":false,"parents":["HP:0032316"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unexpected sibling death"},{"scope":"EXACT","text":"Unexplained death of a sibling"}]} +{"alt_ids":[],"definition":"A reproductive relationship between two individuals who are related by blood as second cousins or closer. In a medical and genetic context, consanguinity increases the coefficient of inbreeding, raising the probability that an offspring will inherit identical alleles from a common ancestor (homozygosity by descent). This significantly increases the risk for autosomal recessive disorders, such as inborn errors of immunity, metabolic diseases, and rare neurodevelopmental syndromes. A history of consanguinity serves as a vital clinical marker for directing diagnostic investigations toward recessive genetic etiologies, especially in the presence of rare phenotypes or unexplained family medical history.","id":"HP:5210275","name":"Consanguinity","obsolete":false,"parents":["HP:0032316"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An osteomyelitis caused by mycobacterial infection, with causative organisms including Mycobacterium tuberculosis, Mycobacterium bovis BCG (typically as a complication of BCG vaccination), and non-tuberculous mycobacteria.","id":"HP:5210276","name":"Unusual mycobacterial osteomyelitis","obsolete":false,"parents":["HP:5210110","HP:5210278"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to infection of bones, joints, or muscles, as manifested by recurrent or severe osteomyelitis, septic arthritis, or infectious myositis, or by musculoskeletal infection caused by an atypical or opportunistic organism.","id":"HP:5210277","name":"Unusual musculoskeletal infection","obsolete":false,"parents":["HP:0032158"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to osteomyelitis of infectious aetiology, as manifested by recurrent or severe bone infection, multifocal osteomyelitis, or osteomyelitis caused by an atypical or opportunistic organism.","id":"HP:5210278","name":"Unusual infectious osteomyelitis","obsolete":false,"parents":["HP:0002754","HP:5210277"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to infection involving lymph nodes or lymphatic vessels, as manifested by recurrent or severe lymphadenitis or lymph node abscess, or by lymphatic infection caused by an atypical or opportunistic organism.","id":"HP:5210279","name":"Unusual lymphatic system infection","obsolete":false,"parents":["HP:0032158","HP:0100763"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Infection of the oral cavity including the gingiva, periodontium, teeth, tongue, or oral mucosa that occurs in the context of unusual susceptibility to infection.","id":"HP:5210280","name":"Unusual oral cavity infection","obsolete":false,"parents":["HP:0031815","HP:0032158"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Infection with attenuated mumps vaccine virus following mumps vaccination, occurring in the context of unusual susceptibility to live viral vaccines.","id":"HP:5210281","name":"Post-vaccination mumps","obsolete":false,"parents":["HP:0020085"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mumps vaccine virus infection"},{"scope":"EXACT","text":"Post-MMR mumps infection"}]} +{"alt_ids":[],"definition":"Retinitis caused by cytomegalovirus (CMV) infection that occurs in the context of unusual susceptibility to infection.","id":"HP:5210282","name":"Cytomegalovirus retinitis","obsolete":false,"parents":["HP:0033432","HP:5210146","HP:5210264"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CMV retinitis"},{"scope":"EXACT","text":"Extensive CMV retinitis"},{"scope":"EXACT","text":"Invasive CMV retinitis"}]} +{"alt_ids":[],"definition":"Pneumonitis caused by cytomegalovirus (CMV) infection that occurs in the context of unusual susceptibility to infection.","id":"HP:5210283","name":"Cytomegalovirus pneumonitis","obsolete":false,"parents":["HP:0033432","HP:5210123","HP:5210146"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CMV interstitial pneumonia"},{"scope":"EXACT","text":"CMV pneumonitis"}]} +{"alt_ids":[],"definition":"Encephalitis caused by cytomegalovirus (CMV) infection that occurs in the context of unusual susceptibility to infection.","id":"HP:5210284","name":"Cytomegalovirus encephalitis","obsolete":false,"parents":["HP:0033432","HP:0033993","HP:5210146"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CMV encephalitis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Epstein-Barr virus (EBV) infections as manifested by severe or disseminated disease or impaired control of EBV infection.","id":"HP:5210286","name":"Unusual EBV infection","obsolete":false,"parents":["HP:0034317"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual Epstein-Barr virus infection"},{"scope":"EXACT","text":"Unusual susceptibility to EBV"}]} +{"alt_ids":[],"definition":"Haemophagocytic lymphohistiocytosis (HLH) triggered by Epstein-Barr virus infection.","id":"HP:5210288","name":"EBV-driven HLH","obsolete":false,"parents":["HP:5210286"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EBV-associated HLH"},{"scope":"EXACT","text":"EBV-driven haemophagocytic lymphohistiocytosis"}]} +{"alt_ids":[],"definition":"Disseminated infection with herpes simplex virus (HSV), involving multiple organ systems.","id":"HP:5210290","name":"Disseminated herpes simplex virus infection","obsolete":false,"parents":["HP:0034317"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Invasive HSV infection"},{"scope":"EXACT","text":"Severe HSV infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to herpes simplex virus (HSV) infections as manifested by recurrent episodes of HSV infection.","id":"HP:5210291","name":"Recurrent herpes simplex virus infection","obsolete":false,"parents":["HP:0034317"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic HSV infection"},{"scope":"EXACT","text":"Persistent HSV infection"}]} +{"alt_ids":[],"definition":"Persistent or recurrent detection of adenovirus in the blood that occurs in the context of unusual susceptibility to infection.","id":"HP:5210293","name":"Persistent adenovirus viremia","obsolete":false,"parents":["HP:0032248","HP:0033432","HP:5210101"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic adenovirus viraemia"},{"scope":"EXACT","text":"Persistent adenovirus viraemia"}]} +{"alt_ids":[],"definition":"Colitis caused by adenovirus infection that occurs in the context of unusual susceptibility to infection.","id":"HP:5210294","name":"Adenovirus colitis","obsolete":false,"parents":["HP:0033432","HP:5210101","HP:5210182"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hepatitis caused by adenovirus infection that occurs in the context of unusual susceptibility to infection.","id":"HP:5210295","name":"Adenovirus hepatitis","obsolete":false,"parents":["HP:0033432","HP:5210101","HP:5210139"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Encephalitis caused by adenovirus infection that occurs in the context of unusual susceptibility to infection.","id":"HP:5210296","name":"Adenovirus encephalitis","obsolete":false,"parents":["HP:0033432","HP:0033993","HP:5210101"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pneumonitis caused by adenovirus infection that occurs in the context of unusual susceptibility to infection.","id":"HP:5210297","name":"Adenovirus pneumonitis","obsolete":false,"parents":["HP:0033432","HP:5210101","HP:5210123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Adenoviral pneumonia"}]} +{"alt_ids":[],"definition":"Increased susceptibility to varicella (chickenpox) infections as manifested by recurrent episodes of chickenpox infection.","id":"HP:5210298","name":"Recurrent chickenpox infection","obsolete":false,"parents":["HP:5210116"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Recurrent varicella"}]} +{"alt_ids":[],"definition":"Increased susceptibility to varicella (chickenpox) infections as manifested by a severe or invasive infection with varicella (chickenpox).","id":"HP:5210299","name":"Severe chickenpox infection","obsolete":false,"parents":["HP:0031691","HP:5210116"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated varicella"},{"scope":"EXACT","text":"Severe varicella"}]} +{"alt_ids":[],"definition":"Encephalitis caused by varicella-zoster virus (VZV) infection that occurs in the context of unusual susceptibility to infection.","id":"HP:5210301","name":"VZV encephalitis","obsolete":false,"parents":["HP:0033432","HP:0033993","HP:5210116"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Varicella-zoster virus encephalitis"}]} +{"alt_ids":[],"definition":"Pneumonitis caused by varicella-zoster virus (VZV) infection that occurs in the context of unusual susceptibility to infection.","id":"HP:5210302","name":"VZV pneumonitis","obsolete":false,"parents":["HP:0033432","HP:5210116","HP:5210123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"VZV pneumonia"},{"scope":"EXACT","text":"Varicella-zoster virus pneumonitis"}]} +{"alt_ids":[],"definition":"Increased susceptibility to human papillomavirus (HPV) causing warts infections as manifested by recurrent or severe/invasive infection with HPV causing warts, or occurring in an unusual anatomical location.","id":"HP:5210303","name":"Unusual 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over an extended period or recur after treatment that occurs in the context of unusual susceptibility to infection.","id":"HP:5210306","name":"Chronic warts","obsolete":false,"parents":["HP:0033432"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Persistent warts"}]} +{"alt_ids":[],"definition":"Increased susceptibility to Molluscum contagiosum infections as manifested by recurrent episodes of Molluscum contagiosum infection.","id":"HP:5210309","name":"Persistent molluscum infection","obsolete":false,"parents":["HP:0032163"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic Molluscum contagiosum infection"},{"scope":"EXACT","text":"Recurrent molluscum"}]} +{"alt_ids":[],"definition":"Increased susceptibility to norovirus infections as manifested by recurrent or severe/invasive infection with norovirus, or occurring in an unusual anatomical location.","id":"HP:5210310","name":"Unusual norovirus 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sepsis","obsolete":false,"parents":["HP:0020071","HP:0033432","HP:5210314"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to astrovirus infections as manifested by recurrent or severe/invasive infection with astrovirus, or occurring in an unusual anatomical location.","id":"HP:5210317","name":"Unusual astrovirus infection","obsolete":false,"parents":["HP:0034317"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual susceptibility to astrovirus"}]} +{"alt_ids":[],"definition":"Disseminated infection with astrovirus involving organs beyond the gastrointestinal tract that occurs in the context of unusual susceptibility to infection.","id":"HP:5210318","name":"Disseminated astrovirus infection","obsolete":false,"parents":["HP:0020071","HP:0033432","HP:5210317"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Infection of the central nervous system by astrovirus that occurs in the context of unusual susceptibility to infection.","id":"HP:5210319","name":"Astrovirus central nervous system infection","obsolete":false,"parents":["HP:0011450","HP:0033432","HP:5210317"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Astrovirus CNS infection"},{"scope":"EXACT","text":"CNS encephalitis due to astrovirus"}]} +{"alt_ids":[],"definition":"Increased susceptibility to influenza virus infections as manifested by recurrent or severe/invasive infection with influenza virus.","id":"HP:5210320","name":"Unusual influenza infection","obsolete":false,"parents":["HP:0034317"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual susceptibility to influenza"}]} +{"alt_ids":[],"definition":"Persistent or recurrent detection of influenza virus in the blood or prolonged shedding in respiratory secretions that occurs in the context of unusual susceptibility to infection.","id":"HP:5210321","name":"Persitent influenza 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+{"alt_ids":[],"definition":"A persistent SARS-CoV-2 infection with prolonged active viral replication and continuous detection of virus beyond the typical duration of acute COVID-19, typically lasting several weeks or longer, often with culturable virus and intra-host viral evolution. A chronic COVID-19 infection is distinct from post-acute sequelae of SARS-CoV-2 infection (long COVID), which represents a post-infectious syndrome after viral clearance, and from recurrent COVID-19 reinfections, which are common in the general population.","id":"HP:5210326","name":"Chronic SARS-CoV-2 infection","obsolete":false,"parents":["HP:0034317"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic COVID-19"},{"scope":"EXACT","text":"Persistent COVID-19"},{"scope":"EXACT","text":"Persistent SARS-CoV-2 infection"},{"scope":"EXACT","text":"Protracted COVID-19"}]} +{"alt_ids":[],"definition":"A severe infection caused by a seasonal coronavirus (HCoV-229E, HCoV-OC43, HCoV-NL63, or HCoV-HKU1), characterized by lower respiratory tract involvement, hypoxia, or systemic illness beyond that typically seen with these viruses in immunocompetent hosts.","id":"HP:5210328","name":"Severe seasonal coronavirus 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coronavirus infection"},{"scope":"EXACT","text":"Prolonged HCoV shedding"}]} +{"alt_ids":[],"definition":"Increased susceptibility to human herpesvirus 6 (HHV-6) infections as manifested by recurrent or severe/invasive infection with HHV-6, or occurring in an unusual anatomical location, such as the brain.","id":"HP:5210330","name":"Unusual HHV6 infection","obsolete":false,"parents":["HP:0033432"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual human herpesvirus 6 infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to human herpesvirus 8 (HHV-8) infections as manifested by recurrent or severe/invasive infection with HHV-8, or occurring in an unusual anatomical location.","id":"HP:5210331","name":"Unusual HHV8 infection","obsolete":false,"parents":["HP:0033432"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual Kaposi's sarcoma-associated herpesvirus infection"}]} +{"alt_ids":[],"definition":"Nephropathy caused by BK polyomavirus infection that occurs in the context of unusual susceptibility to infection.","id":"HP:5210332","name":"BK virus nephropathy","obsolete":false,"parents":["HP:5210104","HP:5210135"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"BK nephropathy"},{"scope":"EXACT","text":"BK polyomavirus nephropathy"},{"scope":"EXACT","text":"Nephropathy caused by a Human polyomavirus 1 infection"}]} +{"alt_ids":[],"definition":"Encephalitis caused by BK polyomavirus infection that occurs in the context of unusual susceptibility to infection.","id":"HP:5210333","name":"BK virus encephalitis","obsolete":false,"parents":["HP:0033993","HP:5210104"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"BK encephalitis"},{"scope":"EXACT","text":"Encephalitis caused by a Human polyomavirus 1 infection"}]} +{"alt_ids":[],"definition":"Increased susceptibility to JC polyomavirus infections as manifested by recurrent or severe/invasive infection with JC polyomavirus, or occurring in an unusual anatomical location.","id":"HP:5210334","name":"Unusual JC virus infection","obsolete":false,"parents":["HP:0033432"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual Human Polyomavirus 2 infection"},{"scope":"EXACT","text":"Unusual JC polyomavirus infection"}]} +{"alt_ids":[],"definition":"Nephropathy caused by JC polyomavirus infection that occurs in the context of unusual susceptibility to infection.","id":"HP:5210335","name":"JC nephropathy","obsolete":false,"parents":["HP:5210135","HP:5210334"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"JC polyomavirus nephropathy"},{"scope":"EXACT","text":"JC virus nephropathy"},{"scope":"EXACT","text":"Nephropathy caused by a Human polyomavirus 2 infection"}]} +{"alt_ids":[],"definition":"Encephalitis caused by JC polyomavirus infection, typically presenting as progressive multifocal leukoencephalopathy (PML).","id":"HP:5210336","name":"JC 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+{"alt_ids":[],"definition":"Granulomatous inflammation characterized by the formation of multiple granulomas exhibiting caseation necrosis, in which the necrotic tissue acquires an amorphous, cheese-like appearance.","id":"HP:5210339","name":"Caseating granulomatosis","obsolete":false,"parents":["HP:5210337"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Necrotizing granulomatosis"}]} +{"alt_ids":[],"definition":"Granulomatous inflammation characterized by the formation of multiple granulomas without central caseation necrosis.","id":"HP:5210340","name":"Non-caseating granulomatosis","obsolete":false,"parents":["HP:5210338"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Non-necrotizing granulomatosis"}]} +{"alt_ids":[],"definition":"An interstitial lung disease, characterized by lymphocytic infiltration and/or granulomatous inflammation of the lung after exclusion of infection and alternative causes, often associated with multisystem inflammatory or granulomatous disease in patients with common variable immunodeficiency (CVID).","id":"HP:5210341","name":"Granulomatous lymphocytic interstitial lung disease","obsolete":false,"parents":["HP:0033551"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"GLILD"},{"scope":"EXACT","text":"Granulomatous-lymphocytic interstitial lung disease"}]} +{"alt_ids":[],"definition":"Lymph node enlargement resulting from granulomatous inflammation, characterized by compact aggregates of epithelioid macrophages and giant cells within the lymph node parenchyma.","id":"HP:5210342","name":"Granulomatous lymphadenopathy","obsolete":false,"parents":["HP:0002716","HP:0002955"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A non-infectious inflammatory granulomatous dermatosis characterized by annular or disseminated erythematous plaques resulting from palisading granulomas with central mucin deposition in the dermis.","id":"HP:5210343","name":"Granuloma annulare","obsolete":false,"parents":["HP:5210338","HP:6000070"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the synovial membrane characterized by granuloma formation within synovial tissue, consisting of aggregates of epithelioid histiocytes with or without multinucleated giant cells.","id":"HP:5210344","name":"Granulomatous synovitis","obsolete":false,"parents":["HP:0002955","HP:0100769"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Uveitis characterized by granulomatous inflammatory pattern of the uveal tract, with clinical findings that may include large keratic precipitates, iris nodules, or other signs of intraocular granulomatous inflammation.","id":"HP:5210345","name":"Granulomatous uveitis","obsolete":false,"parents":["HP:0000554","HP:0002955"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the gingiva characterized by granulomatous tissue reaction, with compact aggregates of epithelioid histiocytes and multinucleate giant cells within the gingival lamina propria.","id":"HP:5210346","name":"Granulomatous gingivitis","obsolete":false,"parents":["HP:0000230","HP:0002955"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the iris characterized by granulomatous tissue reaction, with compact aggregates of mononuclear phagocytes within the iris stroma.","id":"HP:5210347","name":"Granulomatous iritis","obsolete":false,"parents":["HP:0001101","HP:5210345"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased susceptibility to Burkholderia pseudomallei infections as manifested by a recurrent or severe/invasive infection with Burkholderia pseudomallei, or occurring in an unusual anatomical location.","id":"HP:5210348","name":"Unusual Burkholderia pseudomallei infection","obsolete":false,"parents":["HP:0032260","HP:5210002"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual melioidosis"},{"scope":"EXACT","text":"Unusual susceptibility to Burkholderia pseudomallei"}]} +{"alt_ids":[],"definition":"An increased susceptibility to coagulase-negative staphylococci infections as manifested by a recurrent or severe/invasive infection with coagulase-negative staphylococci, or occurring in an unusual anatomical location.","id":"HP:5210349","name":"Unusual coagulase-negative Staphylococcus infection","obsolete":false,"parents":["HP:5210001"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual CoNS infection"},{"scope":"EXACT","text":"Unusual Staphylococcus epidermidis infection"},{"scope":"EXACT","text":"Unusual coagulase-negative staphylococci infection"},{"scope":"EXACT","text":"Unusual susceptibility to coagulase-negative staphylococci"}]} +{"alt_ids":[],"definition":"An increased susceptibility to coagulase-negative staphylococci infections as manifested by recurrent episodes of coagulase-negative staphylococci infection.","id":"HP:5210350","name":"Recurrent coagulase-negative Staphylococcus 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+{"alt_ids":[],"definition":"An increased susceptibility to Enterococcus faecalis infections as manifested by a recurrent or severe/invasive infection with Enterococcus faecalis, or occurring in an unusual anatomical location.","id":"HP:5210352","name":"Unusual Enterococcus faecalis infection","obsolete":false,"parents":["HP:5210006"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual susceptibility to Enterococcus faecalis"}]} +{"alt_ids":[],"definition":"An increased susceptibility to Enterococcus faecalis infections as manifested by recurrent episodes of infection with this pathogen.","id":"HP:5210353","name":"Recurrent Enterococcus faecalis infection","obsolete":false,"parents":["HP:5210352"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic Enterococcus faecalis infection"},{"scope":"EXACT","text":"Persistent Enterococcus faecalis infection"},{"scope":"EXACT","text":"Recurrent susceptibility to Enterococcus faecalis"}]} +{"alt_ids":[],"definition":"An increased susceptibility to Enterococcus faecalis infections as manifested by a severe or invasive infection with Enterococcus faecalis.","id":"HP:5210354","name":"Severe Enterococcus faecalis infection","obsolete":false,"parents":["HP:5210352"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated Enterococcus faecalis infection"},{"scope":"EXACT","text":"Invasive Enterococcus faecalis infection"}]} +{"alt_ids":[],"definition":"An increased susceptibility to Enterococcus faecium infections as manifested by a recurrent or severe/invasive infection with Enterococcus faecium, or occurring in an unusual anatomical location.","id":"HP:5210355","name":"Unusual Enterococcus faecium infection","obsolete":false,"parents":["HP:5210006"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual VRE infection"},{"scope":"EXACT","text":"Unusual susceptibility to Enterococcus faecium"},{"scope":"EXACT","text":"Unusual vancomycin-resistant Enterococcus faecium infection"}]} +{"alt_ids":[],"definition":"An increased susceptibility to Enterococcus faecium infections as manifested by recurrent episodes of infection with this pathogen.","id":"HP:5210356","name":"Recurrent Enterococcus faecium infection","obsolete":false,"parents":["HP:5210355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic Enterococcus faecium infection"},{"scope":"EXACT","text":"Persistent Enterococcus faecium infection"},{"scope":"EXACT","text":"Recurrent VRE infection"},{"scope":"EXACT","text":"Recurrent susceptibility to Enterococcus faecium"}]} +{"alt_ids":[],"definition":"An increased susceptibility to Enterococcus faecium infections as manifested by a severe or invasive infection with Enterococcus faecium.","id":"HP:5210357","name":"Severe Enterococcus faecium infection","obsolete":false,"parents":["HP:5210355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated Enterococcus faecium infection"},{"scope":"EXACT","text":"Invasive Enterococcus faecium 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episodes of infection with this pathogen.","id":"HP:5210365","name":"Recurrent Mycobacterium avium complex infection","obsolete":false,"parents":["HP:5210364"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic MAC infection"},{"scope":"EXACT","text":"Persistent Mycobacterium avium complex infection"},{"scope":"EXACT","text":"Recurrent MAC infection"}]} +{"alt_ids":[],"definition":"An increased susceptibility to Mycobacterium avium complex infections as manifested by a severe or invasive infection with Mycobacterium avium complex.","id":"HP:5210366","name":"Severe Mycobacterium avium complex infection","obsolete":false,"parents":["HP:5210364"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated MAC"},{"scope":"EXACT","text":"Disseminated Mycobacterium avium complex infection"},{"scope":"EXACT","text":"Invasive MAC infection"}]} +{"alt_ids":[],"definition":"An increased susceptibility to Mycoplasma infections as manifested by a recurrent or severe/invasive infection with Mycoplasma, or occurring in an unusual anatomical location.","id":"HP:5210367","name":"Unusual Mycoplasma infection","obsolete":false,"parents":["HP:5210000"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual Mycoplasma pneumoniae infection"},{"scope":"EXACT","text":"Unusual Mycoplasma spp infection"},{"scope":"EXACT","text":"Unusual susceptibility to Mycoplasma"}]} +{"alt_ids":[],"definition":"An increased susceptibility to Mycoplasma infections as manifested by recurrent episodes of infection with this pathogen.","id":"HP:5210368","name":"Recurrent Mycoplasma infection","obsolete":false,"parents":["HP:5210367"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic Mycoplasma infection"},{"scope":"EXACT","text":"Persistent Mycoplasma infection"},{"scope":"EXACT","text":"Recurrent Mycoplasma pneumoniae infection"}]} +{"alt_ids":[],"definition":"An increased susceptibility to Mycoplasma infections as manifested by a severe or invasive infection with Mycoplasma.","id":"HP:5210369","name":"Severe Mycoplasma infection","obsolete":false,"parents":["HP:5210367"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated Mycoplasma infection"},{"scope":"EXACT","text":"Invasive Mycoplasma infection"}]} +{"alt_ids":[],"definition":"An increased susceptibility to Ureaplasma infections as manifested by a recurrent or severe/invasive infection with Ureaplasma, or occurring in an unusual anatomical location.","id":"HP:5210370","name":"Unusual Ureaplasma infection","obsolete":false,"parents":["HP:5210000"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual Ureaplasma urealyticum infection"},{"scope":"EXACT","text":"Unusual susceptibility to Ureaplasma"}]} +{"alt_ids":[],"definition":"An infection of the lungs caused by Cryptococcus species, which is the most common entry portal for cryptococcal disease and may present as nodules, consolidation, or interstitial infiltrates.","id":"HP:5210371","name":"Pulmonary cryptococcosis","obsolete":false,"parents":["HP:5210105","HP:5210123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cryptococcus lung infection"},{"scope":"EXACT","text":"Lung cryptococcosis"},{"scope":"EXACT","text":"Pulmonary cryptococcal infection"}]} +{"alt_ids":[],"definition":"A granulomatous mass-like lesion caused by Cryptococcus infection, which may occur in the lung, brain, skin, or other organs.","id":"HP:5210372","name":"Cryptococcoma","obsolete":false,"parents":["HP:5210105"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cryptococcal granuloma"},{"scope":"EXACT","text":"Cryptococcal mass lesion"},{"scope":"EXACT","text":"Cryptococcal pseudotumour"}]} +{"alt_ids":[],"definition":"An increased susceptibility to Mucorales infections as manifested by a recurrent or severe/invasive infection with Mucorales, or occurring in an unusual anatomical location.","id":"HP:5210373","name":"Unusual mucormycosis","obsolete":false,"parents":["HP:0032255"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual Mucorales infection"},{"scope":"EXACT","text":"Unusual mucor infection"},{"scope":"EXACT","text":"Unusual susceptibility to Mucorales"},{"scope":"EXACT","text":"Unusual zygomycosis"}]} +{"alt_ids":[],"definition":"An increased susceptibility to Talaromyces marneffei infections as manifested by a recurrent or severe/invasive infection with Talaromyces marneffei, or occurring in an unusual anatomical location.","id":"HP:5210374","name":"Unusual Talaromyces marneffei infection","obsolete":false,"parents":["HP:0032255"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual Penicillium marneffei infection"},{"scope":"EXACT","text":"Unusual penicilliosis"},{"scope":"EXACT","text":"Unusual susceptibility to Talaromyces marneffei"},{"scope":"EXACT","text":"Unusual talaromycosis"}]} +{"alt_ids":[],"definition":"An increased susceptibility to dermatophytes infections as manifested by a recurrent or severe/invasive infection with dermatophytes, or occurring in an unusual anatomical location.","id":"HP:5210375","name":"Unusual dermatophyte infection","obsolete":false,"parents":["HP:0020100","HP:0032162"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual Trichophyton infection"},{"scope":"EXACT","text":"Unusual deep dermatophytosis"},{"scope":"EXACT","text":"Unusual dermatophytosis"},{"scope":"EXACT","text":"Unusual susceptibility to dermatophytes"}]} +{"alt_ids":[],"definition":"An increased susceptibility to dermatophytes infections as manifested by recurrent episodes of infection with this pathogen.","id":"HP:5210376","name":"Recurrent dermatophyte infection","obsolete":false,"parents":["HP:5210375"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic dermatophyte infection"},{"scope":"EXACT","text":"Persistent dermatophyte infection"},{"scope":"EXACT","text":"Recurrent dermatophytosis"}]} +{"alt_ids":[],"definition":"An abnormally increased proportion of CD4-positive TEMRA T cells (terminally differentiated effector memory T cells re-expressing CD45RA), relative to total CD4-positive T cells in the blood. These cells have a CD45RA-positive, CD45RO-negative, CCR7-negative phenotype.","id":"HP:5210377","name":"Increased CD4+ TEMRA T cell proportion","obsolete":false,"parents":["HP:0410379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased susceptibility to mould infection, as manifested by a recurrent or severe invasive infection with filamentous fungi other than Aspergillus, or by a mould infection caused by an atypical or opportunistic organism. Common causative organisms include Fusarium species, Scedosporium species, and Lomentospora prolificans.","id":"HP:5210378","name":"Unusual mold infection","obsolete":false,"parents":["HP:0032255"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual Fusarium infection"},{"scope":"EXACT","text":"Unusual Lomentospora prolificans infection"},{"scope":"EXACT","text":"Unusual Scedosporium infection"},{"scope":"EXACT","text":"Unusual filamentous fungal infection"},{"scope":"EXACT","text":"Unusual invasive mould infection"},{"scope":"EXACT","text":"Unusual mould infection"},{"scope":"EXACT","text":"Unusual non-Aspergillus mould infection"},{"scope":"EXACT","text":"Unusual susceptibility to moulds"}]} +{"alt_ids":[],"definition":"An increased susceptibility to Blastomyces dermatitidis infections as manifested by a recurrent or severe/invasive infection with Blastomyces dermatitidis, or occurring in an unusual anatomical location.","id":"HP:5210379","name":"Unusual Blastomyces dermatitidis infection","obsolete":false,"parents":["HP:0032255"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual North American blastomycosis"},{"scope":"EXACT","text":"Unusual blastomycosis"},{"scope":"EXACT","text":"Unusual susceptibility to Blastomyces dermatitidis"}]} +{"alt_ids":[],"definition":"An increased susceptibility to Blastomyces dermatitidis infections as manifested by recurrent episodes of infection with this pathogen.","id":"HP:5210380","name":"Recurrent Blastomyces dermatitidis infection","obsolete":false,"parents":["HP:5210379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic blastomycosis"},{"scope":"EXACT","text":"Persistent Blastomyces dermatitidis infection"},{"scope":"EXACT","text":"Recurrent blastomycosis"}]} +{"alt_ids":[],"definition":"An increased susceptibility to Blastomyces dermatitidis infections as manifested by a severe or invasive infection with Blastomyces dermatitidis.","id":"HP:5210381","name":"Severe Blastomyces dermatitidis infection","obsolete":false,"parents":["HP:5210379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated blastomycosis"},{"scope":"EXACT","text":"Invasive blastomycosis"},{"scope":"EXACT","text":"Severe blastomycosis"}]} +{"alt_ids":[],"definition":"An increased susceptibility to Coccidioides infections as manifested by a recurrent or severe/invasive infection with Coccidioides, or occurring in an unusual anatomical location.","id":"HP:5210382","name":"Unusual Coccidioides infection","obsolete":false,"parents":["HP:0032255"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual Coccidioides immitis infection"},{"scope":"EXACT","text":"Unusual Coccidioides posadasii infection"},{"scope":"EXACT","text":"Unusual coccidioidomycosis"},{"scope":"EXACT","text":"Unusual susceptibility to Coccidioides"},{"scope":"EXACT","text":"Unusual valley fever"}]} +{"alt_ids":[],"definition":"An increased susceptibility to Coccidioides infections as manifested by recurrent episodes of infection with this pathogen.","id":"HP:5210383","name":"Recurrent Coccidioides infection","obsolete":false,"parents":["HP:5210382"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic coccidioidomycosis"},{"scope":"EXACT","text":"Persistent Coccidioides infection"},{"scope":"EXACT","text":"Recurrent coccidioidomycosis"}]} +{"alt_ids":[],"definition":"An increased susceptibility to Coccidioides infections as manifested by a severe or invasive infection with Coccidioides.","id":"HP:5210384","name":"Severe Coccidioides infection","obsolete":false,"parents":["HP:5210382"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated coccidioidomycosis"},{"scope":"EXACT","text":"Invasive coccidioidomycosis"},{"scope":"EXACT","text":"Severe coccidioidomycosis"}]} +{"alt_ids":[],"definition":"An increased susceptibility to Paracoccidioides brasiliensis infections as manifested by a recurrent or severe/invasive infection with Paracoccidioides brasiliensis, or occurring in an unusual anatomical location.","id":"HP:5210385","name":"Unusual Paracoccidioides brasiliensis infection","obsolete":false,"parents":["HP:0032255"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual South American blastomycosis"},{"scope":"EXACT","text":"Unusual paracoccidioidomycosis"},{"scope":"EXACT","text":"Unusual susceptibility to Paracoccidioides brasiliensis"}]} +{"alt_ids":[],"definition":"An increased susceptibility to Paracoccidioides brasiliensis infections as manifested by recurrent episodes of infection with this pathogen.","id":"HP:5210386","name":"Recurrent Paracoccidioides brasiliensis infection","obsolete":false,"parents":["HP:5210385"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic paracoccidioidomycosis"},{"scope":"EXACT","text":"Persistent Paracoccidioides brasiliensis infection"},{"scope":"EXACT","text":"Recurrent paracoccidioidomycosis"}]} +{"alt_ids":[],"definition":"An increased susceptibility to Paracoccidioides brasiliensis infections as manifested by a severe or invasive infection with Paracoccidioides brasiliensis.","id":"HP:5210387","name":"Severe Paracoccidioides brasiliensis infection","obsolete":false,"parents":["HP:5210385"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated paracoccidioidomycosis"},{"scope":"EXACT","text":"Invasive paracoccidioidomycosis"},{"scope":"EXACT","text":"Severe paracoccidioidomycosis"}]} +{"alt_ids":[],"definition":"An increased susceptibility to Histoplasma capsulatum infections as manifested by recurrent episodes of infection with this pathogen.","id":"HP:5210389","name":"Recurrent Histoplasma capsulatum infection","obsolete":false,"parents":["HP:0032256"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic histoplasmosis"},{"scope":"EXACT","text":"Persistent Histoplasma capsulatum infection"},{"scope":"EXACT","text":"Recurrent histoplasmosis"}]} +{"alt_ids":[],"definition":"An increased susceptibility to Candida auris infections as manifested by a recurrent or severe/invasive infection with Candida auris, or occurring in an unusual anatomical location.","id":"HP:5210391","name":"Unusual Candida auris infection","obsolete":false,"parents":["HP:5210102"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual C. auris infection"},{"scope":"EXACT","text":"Unusual susceptibility to Candida auris"}]} +{"alt_ids":[],"definition":"An increased susceptibility to chronic or persistent Candida auris infection, as manifested by prolonged infection with this multi-drug-resistant emerging Candida species.","id":"HP:5210392","name":"Chronic Candida auris infection","obsolete":false,"parents":["HP:5210391"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic C. auris infection"},{"scope":"EXACT","text":"Persistent Candida auris infection"},{"scope":"EXACT","text":"Recurrent Candida auris infection"}]} +{"alt_ids":[],"definition":"An increased susceptibility to Candida auris infections as manifested by a severe or invasive infection with Candida auris.","id":"HP:5210393","name":"Severe Candida auris infection","obsolete":false,"parents":["HP:5210391"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Candida auris candidaemia"},{"scope":"EXACT","text":"Disseminated Candida auris infection"},{"scope":"EXACT","text":"Invasive Candida auris infection"}]} +{"alt_ids":[],"definition":"A hepatitis caused by herpes simplex virus (HSV) infection, which may present as a severe or fulminant hepatitis with elevated transaminases, coagulopathy, and hepatic failure.","id":"HP:5210394","name":"HSV hepatitis","obsolete":false,"parents":["HP:0006562","HP:5210240"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fulminant HSV hepatitis"},{"scope":"EXACT","text":"Herpes simplex virus hepatitis"},{"scope":"EXACT","text":"Herpetic hepatitis"}]} +{"alt_ids":[],"definition":"A meningitis caused by varicella-zoster virus (VZV) infection, which may occur as part of primary varicella, herpes zoster, or zoster sine herpete (without rash).","id":"HP:5210395","name":"VZV meningitis","obsolete":false,"parents":["HP:5210116","HP:5210216"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"VZV-associated meningitis"},{"scope":"EXACT","text":"Varicella-zoster virus meningitis"},{"scope":"EXACT","text":"Zoster meningitis"}]} +{"alt_ids":[],"definition":"A molluscum contagiosum lesion exceeding one centimetre in diameter, which may present as an unusually large, persistent, or atypical lesion.","id":"HP:5210396","name":"Giant molluscum","obsolete":false,"parents":["HP:0032163"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Atypical molluscum"},{"scope":"EXACT","text":"Giant molluscum contagiosum"},{"scope":"EXACT","text":"Large molluscum lesion"}]} +{"alt_ids":[],"definition":"An increased susceptibility to human herpesvirus 7 (HHV-7) infections as manifested by a recurrent or severe/invasive infection with HHV-7, or occurring in an unusual anatomical location.","id":"HP:5210397","name":"Unusual HHV7 infection","obsolete":false,"parents":["HP:0033432"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual human herpesvirus 7 infection"},{"scope":"EXACT","text":"Unusual susceptibility to HHV-7"}]} +{"alt_ids":[],"definition":"A cystitis caused by BK polyomavirus infection, typically presenting as haemorrhagic cystitis with macroscopic haematuria.","id":"HP:5210398","name":"BK virus cystitis","obsolete":false,"parents":["HP:5210104","HP:5210192"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"BK cystitis"},{"scope":"EXACT","text":"BK haemorrhagic cystitis"},{"scope":"EXACT","text":"BK polyomavirus cystitis"},{"scope":"EXACT","text":"BK virus-associated haemorrhagic cystitis"}]} +{"alt_ids":[],"definition":"An increased susceptibility to poliovirus infections as manifested by a recurrent or severe/invasive infection with poliovirus, or occurring in an unusual anatomical location.","id":"HP:5210399","name":"Unusual poliovirus infection","obsolete":false,"parents":["HP:0033432","HP:5210314"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual chronic poliovirus excretion"},{"scope":"EXACT","text":"Unusual iVDPV excretion"},{"scope":"EXACT","text":"Unusual immunodeficiency-associated VDPV"},{"scope":"EXACT","text":"Unusual susceptibility to poliovirus"},{"scope":"EXACT","text":"Unusual vaccine-derived poliovirus (VDPV) infection"}]} +{"alt_ids":[],"definition":"A chronic shedding of poliovirus in stool over an extended period, typically following vaccination with live attenuated oral poliovirus vaccine, with viral excretion persisting for months or years. A chronic poliovirus excretion is characteristic of antibody deficiencies including X-linked agammaglobulinaemia and common variable immunodeficiency, in which patients may shed vaccine-derived poliovirus indefinitely.","id":"HP:5210400","name":"Chronic poliovirus excretion","obsolete":false,"parents":["HP:5210399"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic vaccine-derived poliovirus excretion"},{"scope":"EXACT","text":"Immunodeficiency-associated vaccine-derived poliovirus excretion"},{"scope":"EXACT","text":"Long-term poliovirus excretion"},{"scope":"EXACT","text":"Persistent poliovirus shedding"},{"scope":"EXACT","text":"iVDPV excretion"}]} +{"alt_ids":[],"definition":"An increased susceptibility to rotavirus infections as manifested by a recurrent or severe/invasive infection with rotavirus, or occurring in an unusual anatomical location.","id":"HP:5210401","name":"Severe rotavirus infection","obsolete":false,"parents":["HP:0031691","HP:0034317"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Severe rotavirus gastroenteritis"},{"scope":"EXACT","text":"Unusual susceptibility to rotavirus"},{"scope":"EXACT","text":"Unusual vaccine-derived rotavirus infection"}]} +{"alt_ids":[],"definition":"An increased susceptibility to respiratory syncytial virus (RSV) infections as manifested by a recurrent or severe/invasive infection with RSV, or occurring in an unusual anatomical location.","id":"HP:5210402","name":"Unusual respiratory syncytial virus infection","obsolete":false,"parents":["HP:0033432"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual RSV bronchiolitis"},{"scope":"EXACT","text":"Unusual RSV infection"},{"scope":"EXACT","text":"Unusual RSV pneumonia"},{"scope":"EXACT","text":"Unusual susceptibility to respiratory syncytial virus"}]} +{"alt_ids":[],"definition":"An increased susceptibility to respiratory syncytial virus (RSV) infections as manifested by a severe or invasive infection with respiratory syncytial virus (RSV).","id":"HP:5210403","name":"Severe respiratory syncytial virus infection","obsolete":false,"parents":["HP:0031691","HP:5210402"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated RSV infection"},{"scope":"EXACT","text":"Invasive RSV infection"},{"scope":"EXACT","text":"Severe RSV bronchiolitis"},{"scope":"EXACT","text":"Severe RSV infection"},{"scope":"EXACT","text":"Severe RSV pneumonia"}]} +{"alt_ids":[],"definition":"An increased susceptibility to chronic or persistent respiratory syncytial virus (RSV) infection, as manifested by prolonged viral shedding and persistent or recurrent respiratory symptoms beyond the typical course of acute infection.","id":"HP:5210404","name":"Chronic respiratory syncytial virus infection","obsolete":false,"parents":["HP:5210402"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chronic RSV infection"},{"scope":"EXACT","text":"Persistent RSV infection"},{"scope":"EXACT","text":"Persistent RSV shedding"},{"scope":"EXACT","text":"Recurrent RSV infection"}]} +{"alt_ids":[],"definition":"An increased susceptibility to rhinovirus infections as manifested by a recurrent or severe/invasive infection with rhinovirus, or occurring in an unusual anatomical location.","id":"HP:5210405","name":"Chronic rhinovirus infection","obsolete":false,"parents":["HP:0033432"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual chronic rhinovirus shedding"},{"scope":"EXACT","text":"Unusual human rhinovirus infection"},{"scope":"EXACT","text":"Unusual susceptibility to rhinovirus"}]} +{"alt_ids":[],"definition":"An increased susceptibility to human metapneumovirus (hMPV) infections as manifested by a recurrent or severe/invasive infection with hMPV, or occurring in an unusual anatomical location.","id":"HP:5210406","name":"Unusual human metapneumovirus infection","obsolete":false,"parents":["HP:0033432"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Unusual hMPV infection"},{"scope":"EXACT","text":"Unusual hMPV pneumonia"},{"scope":"EXACT","text":"Unusual metapneumovirus infection"},{"scope":"EXACT","text":"Unusual susceptibility to human metapneumovirus"}]} +{"alt_ids":[],"definition":"An ocular infection caused by Toxoplasma gondii, typically presenting as chorioretinitis with characteristic retinal lesions and potential progression to vision loss.","id":"HP:5210407","name":"Toxoplasma eye infection","obsolete":false,"parents":["HP:5210127","HP:5210137"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ocular toxoplasmosis"},{"scope":"EXACT","text":"Toxoplasma chorioretinitis"},{"scope":"EXACT","text":"Toxoplasma retinitis"},{"scope":"EXACT","text":"Toxoplasmic retinochoroiditis"}]} +{"alt_ids":[],"definition":"An adverse disease following vaccination with the Bacillus Calmette-Guérin (BCG) live attenuated Mycobacterium bovis vaccine, ranging from local BCGitis (regional lymphadenitis or injection-site abscess) to disseminated BCGosis. BCG associated disease can be a manifestation of unusual susceptibility to infection, particularly in severe combined immunodeficiency, Mendelian susceptibility to mycobacterial disease (MSMD), and chronic granulomatous disease.","id":"HP:5210408","name":"BCG-associated disease","obsolete":false,"parents":["HP:0020085","HP:5210110"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Adverse reaction to BCG vaccination"},{"scope":"EXACT","text":"BCG vaccine adverse event"},{"scope":"EXACT","text":"BCG-itis"},{"scope":"EXACT","text":"BCG-osis"},{"scope":"EXACT","text":"Disseminated BCG infection"}]} +{"alt_ids":[],"definition":"An abnormal proportion of effector memory CD4-positive memory T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype.","id":"HP:5210409","name":"Abnormal effector memory CD4+ T cell proportion","obsolete":false,"parents":["HP:0410379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal proportion of central memory CD4-positive memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.","id":"HP:5210410","name":"Abnormal central memory CD4+ T cell proportion","obsolete":false,"parents":["HP:0410379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal decrease of absolute number (either count per volume or proportion of total lymphocytes) of T cells or of a subset of T cells, commonly characterized as CD3+ lymphocytes, in the blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells.","id":"HP:5210411","name":"Decreased total T cell number","obsolete":false,"parents":["HP:0011839"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased numbers of circulating T cells"},{"scope":"EXACT","text":"Reduced number of T cells"}]} +{"alt_ids":[],"definition":"Abnormal increase of absolute number (either count per volume or proportion of total lymphocytes) of T cells or of a subset of T cells, commonly characterized as CD3+ lymphocytes, in the blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells.","id":"HP:5210412","name":"Increased total T cell number","obsolete":false,"parents":["HP:0011839"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increase in T cell number"}]} +{"alt_ids":[],"definition":"Abnormal decrease in the proportion of T cells, commonly characterized as CD3+ lymphocytes, measured as a percentage of total lymphocytes in the blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells.","id":"HP:5210413","name":"Decreased total T cell proportion","obsolete":false,"parents":["HP:5210411"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased T cell percentage"},{"scope":"EXACT","text":"Decreased percentage of CD3+ lymphocytes"},{"scope":"EXACT","text":"Reduced proportion of T cells"}]} +{"alt_ids":[],"definition":"Abnormal increase in the proportion of T cells, commonly characterized as CD3+ lymphocytes, measured as a percentage of total lymphocytes in the blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells.","id":"HP:5210414","name":"Increased total T cell proportion","obsolete":false,"parents":["HP:5210412"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased T cell percentage"},{"scope":"EXACT","text":"Increased percentage of CD3+ lymphocytes"}]} +{"alt_ids":[],"definition":"Abnormal decrease of absolute number of helper CD3+CD4+ T cells (either count per volume or percentage of total lymphocytes), compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.","id":"HP:5210415","name":"Decreased total CD4+ T cell number","obsolete":false,"parents":["HP:0025183"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase of absolute number of helper CD3+CD4+ T cells (either count per volume or percentage of total lymphocytes), compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.","id":"HP:5210416","name":"Increased CD4+ T cell number","obsolete":false,"parents":["HP:0025183"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase of absolute count of helper CD3+CD4+ T cells (quantified as count per volume), compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.","id":"HP:5210417","name":"Increased total CD4+ T cell count","obsolete":false,"parents":["HP:5210416"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CD4 lymphocytosis"},{"scope":"EXACT","text":"CD4+ T-cell lymphocytosis"},{"scope":"EXACT","text":"Elevated CD4 count"},{"scope":"EXACT","text":"Increased absolute CD4 count"},{"scope":"EXACT","text":"Increased circulating CD4+ T cell count"}]} +{"alt_ids":[],"definition":"Abnormal decrease of absolute count of helper CD3+CD4+ T cells (quantified as count per volume), compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.","id":"HP:5210418","name":"Decreased total CD4+ T cell count","obsolete":false,"parents":["HP:5210415"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CD4 T lymphocytopenia"},{"scope":"EXACT","text":"CD4 lymphopenia"},{"scope":"EXACT","text":"CD4+ T cell lymphopenia"},{"scope":"EXACT","text":"Decreased absolute CD4 count"},{"scope":"EXACT","text":"Decreased circulating CD4+ T cell count"}]} +{"alt_ids":[],"definition":"A reduction in one or more peripheral blood cell lineages resulting from immune-mediated destruction or impairment caused by an autoimmune process.","id":"HP:5210419","name":"Autoimmune cytopenia","obsolete":false,"parents":["HP:0002960"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A severe form of eczema characterised by extensive skin involvement and/or persistent or recurrent symptoms requiring intensive treatment.","id":"HP:5210420","name":"Severe eczema","obsolete":false,"parents":["HP:0000964"],"replaced_by":[],"synonyms":[{"scope":"BROAD","text":"Persistent eczema"}]} +{"alt_ids":[],"definition":"A chronic inflammatory liver disease characterised by immune-mediated hepatocellular injury resulting from an autoimmune process.","id":"HP:5210421","name":"Autoimmune hepatitis","obsolete":false,"parents":["HP:0002960","HP:0012115"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A disorder of the brain not caused by an infectious agent, characterised by inflammation of the brain parenchyma. It may present with an altered level of consciousness, focal or multifocal neurologic deficits, and seizures; unlike infectious encephalitis, fever is often absent, and autoimmune forms frequently present subacutely with cognitive, psychiatric, or behavioural changes.","id":"HP:5210422","name":"Non-infectious encephalitis","obsolete":false,"parents":["HP:0033429"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An inflammation of the brain parenchyma caused by an autoimmune process directed against neuronal or glial antigens.","id":"HP:5210423","name":"Autoimmune encephalitis","obsolete":false,"parents":["HP:0002960","HP:5210422"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase of the absolute number of cytotoxic CD3+CD8+ T cells (measured the absolute count per volume or as percentage of total CD3+ T cells in the blood), compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.","id":"HP:5210424","name":"Increased total CD8+ T cell number","obsolete":false,"parents":["HP:0031393"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal decrease of the absolute number of cytotoxic CD3+CD8+ T cells (measured the absolute count per volume or as percentage of total CD3+ T cells in the blood), compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.","id":"HP:5210425","name":"Decreased total CD8+ T cell number","obsolete":false,"parents":["HP:0031393"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal decrease of cytotoxic CD3+CD8+ T cells, measured as the total count per volumne in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.","id":"HP:5210426","name":"Decreased total CD8+ T cell count","obsolete":false,"parents":["HP:5210425"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CD8 lymphopenia"},{"scope":"EXACT","text":"CD8+ T-cell lymphopenia"},{"scope":"EXACT","text":"Decreased absolute CD8 count"},{"scope":"EXACT","text":"Decreased circulating CD8+ T cell count"},{"scope":"EXACT","text":"Low CD8 count"}]} +{"alt_ids":[],"definition":"Abnormal increase of cytotoxic CD3+CD8+ T cells, measured as the total count per volumne in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.","id":"HP:5210427","name":"Increased total CD8+ T cell count","obsolete":false,"parents":["HP:5210424"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"CD8 lymphocytosis"},{"scope":"EXACT","text":"CD8+ T-cell lymphocytosis"},{"scope":"EXACT","text":"Elevated CD8 count"},{"scope":"EXACT","text":"Increased absolute CD8 count"}]} +{"alt_ids":[],"definition":"Infection of the lung parenchyma with herpes simplex virus, resulting in inflammation of the lung parenchyma with impaired respiratory function.","id":"HP:5210428","name":"HSV pneumonia","obsolete":false,"parents":["HP:5210240"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Herpes simplex pneumonia"},{"scope":"EXACT","text":"Herpes simplex virus pneumonia"},{"scope":"EXACT","text":"Pneumonia due to herpes simplex virus"}]} +{"alt_ids":[],"definition":"Recurrent episodes of conjunctivitis caused by infection with Haemophilus influenzae, characterised by inflammation of the conjunctiva associated with conjunctival injection and purulent ocular discharge.","id":"HP:5210429","name":"Recurrent Haemophilus influenzae conjunctivitis","obsolete":false,"parents":["HP:0005376","HP:5210260"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural deformity of the hindfoot, the posterior region of the foot formed by the talus and calcaneus.","id":"HP:5210430","name":"Hindfoot deformity","obsolete":false,"parents":["HP:0001760"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Rearfoot deformity"}]} +{"alt_ids":[],"definition":"A tendency to mix up left and right in one's own body space, typically elicited by asking a person to perform a two-stage command involving specified lateralized anatomy.","id":"HP:6000000","name":"Left-right disorientation","obsolete":false,"parents":["HP:5200423"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Left-right confusion"},{"scope":"EXACT","text":"Right-left confusion"},{"scope":"EXACT","text":"Right-left disorientation"}]} +{"alt_ids":[],"definition":"The concentration of DNAJB9 in the blood circulation is above the upper limit of normal.","id":"HP:6000001","name":"Elevated circulating DNAJB9 concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"DNAJB9 protein level in serum elevated"},{"scope":"EXACT","text":"Elevated DnaJ homolog subfamily B member 9 concentration"},{"scope":"EXACT","text":"Elevated DnaJ homolog subfamily B member 9 level"},{"scope":"EXACT","text":"Elevated DnaJ homolog subfamily B member 9 level in blood"},{"scope":"EXACT","text":"Increased DnaJ homolog subfamily B member 9 concentration"},{"scope":"EXACT","text":"Increased DnaJ homolog subfamily B member 9 level"},{"scope":"EXACT","text":"Increased DnaJ homolog subfamily B member 9 level in blood"}]} +{"alt_ids":[],"definition":"A partial or complete break in the olecranon,which is the proximal articular portion of the ulna and makes up part of the elbow.","id":"HP:6000002","name":"Olecranon fracture","obsolete":false,"parents":["HP:0004032","HP:0041219"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Past medical history of surgical breast removal.","id":"HP:6000003","name":"History of mastectomy","obsolete":false,"parents":["HP:0430103"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A malignant neoplasm arising from the endothelial cells of the lymphatic vessels.","id":"HP:6000004","name":"Lymphangiosarcoma","obsolete":false,"parents":["HP:0012797"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Aspiration or inhalation of lipid-containing products.","id":"HP:6000005","name":"Exposure to inhaled lipids","obsolete":false,"parents":["HP:4000110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Symmetric poikiloderma of hips and lateral thighs below the greater trochanter.","id":"HP:6000006","name":"Holster sign","obsolete":false,"parents":["HP:0001029"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A rare neoplasm consisting of a monomorphic population of basaloid epithelial cells, and it accounts for approximately 1-2% of all salivary gland tumors.","id":"HP:6000007","name":"Salivary basal cell adenoma","obsolete":false,"parents":["HP:0100684"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Elevated Hemidiaphragm is a condition where one portion of the diaphragm is higher than the other. Elevated hemidiaphragm occurs when one side of the diaphragm becomes weak from muscular disease or loss of innervation due to phrenic nerve injury.","id":"HP:6000008","name":"Hemidiaphragm elevation","obsolete":false,"parents":["HP:0040045"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated hemidiaphragm"}]} +{"alt_ids":[],"definition":"The cerebriform connective tissue nevus (CCTN) is one of the most characteristic skin findings. It commonly occurs on the soles of the feet, and frequently causes problems because of pain, pruritus, infection, bleeding,exudation, odor, and walking impairment.","id":"HP:6000009","name":"Cerebriform connective tissue nevus","obsolete":false,"parents":["HP:0003549"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Linear streaks and swirls of macular hyperpigmentation along the lines of Blaschko.","id":"HP:6000010","name":"Linear Hyperpigmentation along Blaschko's lines","obsolete":false,"parents":["HP:0007546"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The experience of remorse, self-reproach, or perceived culpability for a real or perceived unfavorable outcome. Guilt may be proportionate to the context or disproportionate, and it may occur in the absence of an identifiable act, event, or offense. It reflects the interplay of cognitive processes, such as judgments about responsibility, and emotional responses, which can lead to persistent rumination or preoccupation. Guilt may extend to situations outside the individual's control and, in some cases, be accompanied by inaccurate or exaggerated beliefs about one's role in an outcome.","id":"HP:6000011","name":"Guilt","obsolete":false,"parents":["HP:0031467"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excessive self-reproach"},{"scope":"RELATED","text":"Feelings of worthlessness"},{"scope":"BROAD","text":"Inappropriate sense of responsibility"},{"scope":"NARROW","text":"Obsessive remorse over imagined wrongs"},{"scope":"BROAD","text":"Self-blame"},{"scope":"BROAD","text":"Unfounded sense of culpability"},{"scope":"NARROW","text":"Unrealistic self-blame"},{"scope":"EXACT","text":"Unwarranted self-blame"}]} +{"alt_ids":[],"definition":"A deviation of the mediastinum from its normal position in the midline of the thoracic cavity. The mediastinum is a compartment of the thoracic cavity that contains the heart and its blood vessels, the esophagus, trachea, thymus, as well as nerves and lymph nodes.","id":"HP:6000012","name":"Mediastinal shift","obsolete":false,"parents":["HP:0045026"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Dyspnea as a result of bending forward while not holding one's breath; dyspnea or shortness of breath onset within 30 seconds of bending forward.","id":"HP:6000013","name":"Bendopnea","obsolete":false,"parents":["HP:0002094"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Refers to pain that is worse when the affected individual lies down (flat).","id":"HP:6000014","name":"Pain worse when lying flat","obsolete":false,"parents":["HP:0025285"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pain worse when lying down"}]} +{"alt_ids":[],"definition":"Abnormally increased ability to move of the tympanic membrane.","id":"HP:6000015","name":"Tympanic membrane hypermobility","obsolete":false,"parents":["HP:0031704"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypercompliant tympanic membrane"}]} +{"alt_ids":[],"definition":"Concentration of vitamin B12 in the blood circulation above the upper limit of normal.","id":"HP:6000016","name":"Elevated circulating vitamin B12 concentration","obsolete":false,"parents":["HP:0004341"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated plasma vitamin B12 level"},{"scope":"EXACT","text":"Elevated serum cobalamin level"},{"scope":"EXACT","text":"Elevated serum vitamin B12 level"}]} +{"alt_ids":[],"definition":"The concentration of sFASL (soluble FASL, soluble FAS-ligand) in the blood circulation is above the upper limit of normal.","id":"HP:6000017","name":"Elevated circulating sFASL concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A disorder of the internal anal sphincter (IAS) in which the IAS fails to relax that manifests clinically as intractable constipation.","id":"HP:6000018","name":"Internal anal sphincter achalasia","obsolete":false,"parents":["HP:0034916"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anal achalasia"}]} +{"alt_ids":[],"definition":"History of treatment with an anthracycline chemotherapy agent.","id":"HP:6000019","name":"Anthracycline exposure","obsolete":false,"parents":["HP:4000112"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A pattern of episodic heavy alcohol use characterized by the consumption of a high number of drinks per occasion.","id":"HP:6000020","name":"Binge drinking","obsolete":false,"parents":["HP:0430037"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of thrombopoietin in the blood circulation below the lower limit of normal. Thrombopoietin is a glycoprotein hormone produced by the liver and kidney that stimulates the production and differentiation of megakaryocytes.","id":"HP:6000021","name":"Decreased circulating thrombopoietin concentration","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A rare hamartomatous malformation characterized by the predominant proliferation of normal collagen fibers and normal, decreased, or increased elastic fibers. Collagenomas may be solitary or multiple, sporadic, acquired or inherited.","id":"HP:6000022","name":"Collagenoma","obsolete":false,"parents":["HP:0100898"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Physical activity levels less than those required for optimal health and prevention of premature death.","id":"HP:6000023","name":"Lack of sufficient daily physical activity","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"physical inactivity"}]} +{"alt_ids":[],"definition":"A phenomenon whereby stimulation of one sensory or cognitive pathway leads to automatic, involuntary experiences in a second sensory or cognitive pathway. For instance, people with synaesthesia may experience unusual colors, tastes, and other sensations when engaged in everyday activities like reading or listening to music.","id":"HP:6000024","name":"Synesthesia","obsolete":false,"parents":["HP:0011446"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally dark color of cerumen (earwax), which is a waxy substance secreted in the ear canal that normally has a brown, orange, red, yellowish or gray.","id":"HP:6000025","name":"Dark cerumen","obsolete":false,"parents":["HP:0030790"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dark earwax"},{"scope":"EXACT","text":"Pigmented cerumen"}]} +{"alt_ids":[],"definition":"A history of high intake of spciy foods with ingrediaents such as capsaicin, pepper, chili, ginger, garlic, onion, fenugreek, and turmeric.","id":"HP:6000026","name":"History of spicy food intake","obsolete":false,"parents":["HP:4000123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Brown pigment spots in the limbus (border between the cornea and the sclera).","id":"HP:6000027","name":"Oil-drop brown pigmentation of the corneal limbus","obsolete":false,"parents":["HP:0007832"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hazardous drinking is defined as a quantity or pattern of alcohol consumption that places individuals at risk for adverse health events. This could include alcohol use despite potentially hazardous or risky consequences, such as operating heavy machinery or drunk driving.","id":"HP:6000028","name":"Hazardous alcohol use","obsolete":false,"parents":["HP:5200329"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excessive fear of embarrassment, humiliation, or rejection when exposed to possible negative evaluation by others when engaged in a public performance or social interaction.","id":"HP:6000029","name":"Social anxiety","obsolete":false,"parents":["HP:0000739"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Flat affect and reduced response to emotional stimuli. Fear and anger responses that are normally present are blunted.","id":"HP:6000030","name":"Placidity","obsolete":false,"parents":["HP:5200261"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Phaeohyphomycosis refers to infections due to a large group of heterogenous organisms called dematiaceous or melanized fungi. These fungi are distinguished by the predominance of melanin in their cell walls, which likely acts as a virulence factor. Virtually, everyone is exposed to dematiaceous fungi through inhalation, as they are ubiquitous in the environment, although the development of infection is extremely uncommon.","id":"HP:6000031","name":"Phaeohyphomycosis","obsolete":false,"parents":["HP:0032255"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hearing one's own voice resonating loudly in the ear.","id":"HP:6000032","name":"Autophony","obsolete":false,"parents":["HP:0000364"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A history of being at high altitude in situations such hiking, mountain climbing, travel to mountains, or air travel.","id":"HP:6000033","name":"High altitude exposure","obsolete":false,"parents":["HP:4000110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A past medical history of recently being hospitalized.","id":"HP:6000034","name":"History of recent hospitalization","obsolete":false,"parents":["HP:4000144"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cessation of palpitations can be induced by Valsava maneuver.","id":"HP:6000035","name":"Palpitations terminated by Valsava maneuver","obsolete":false,"parents":["HP:0025254"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally long telomeres in somatic cells.","id":"HP:6000036","name":"Long telomere length","obsolete":false,"parents":["HP:0031412"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elongated telomeres"}]} +{"alt_ids":[],"definition":"The activity of aromatic L-amino acid decarboxylase (also known as DOPA decarboxylase, tryptophan decarboxylase, and 5-hydroxytryptophan decarboxylase) in the blood circulation is below the lower limit of normal.","id":"HP:6000037","name":"Reduced circulating aromatic L-amino acid decarboxylase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced circulating 5-hydroxytryptophan decarboxylase activity"},{"scope":"EXACT","text":"Reduced circulating DOPA decarboxylase, activity"}]} +{"alt_ids":[],"definition":"Abnormal narrowing of the subclavian artery.","id":"HP:6000038","name":"Subclavian artery stenosis","obsolete":false,"parents":["HP:0031251"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cardiac synchronous pulsation on palpation.","id":"HP:6000039","name":"Pulsatile liver","obsolete":false,"parents":["HP:0031865"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Neuropathic pain is triggered by lesions to the somatosensory nervous system that alter its structure and function so that pain occurs spontaneously and responses to noxious and innocuous stimuli are pathologically amplified.","id":"HP:6000040","name":"Neuropathic pain","obsolete":false,"parents":["HP:0025280"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A history of repeated exposure to cold water, as may result, for instance, from surfing, diving, kayaking, or swimming.","id":"HP:6000041","name":"Repeated cold water exposure","obsolete":false,"parents":["HP:4000110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Tinnitus (sound heard by a subjhect when no corresponding external sound is present) that is made worse by swallowing.","id":"HP:6000042","name":"Tinnitus exacerbated by swallowing","obsolete":false,"parents":["HP:0025285"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Regularly occurring motion of the tympanic membrane (eardrum), which is located between the inner and middle ear. This can be a manifestation of tensor tympani myoclonus, which can also be ascertained as sawtooth patterns on long-term tympanometry.","id":"HP:6000043","name":"Rhythmic movements of the tympanic membrane","obsolete":false,"parents":["HP:0031704"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The length of the temporal styloid process is above the upper limit of normal. The styloid process is a cylindrical, slender, needle-like projection of varying lengths averaging 2 to 3 cm. The styloid process projects from the inferior part of the petrous temporal bone and offers attachment to the stylohyoid ligament and the stylohyoid, stylopharyngeus, and styloglossus muscles.","id":"HP:6000044","name":"Elongated temporal styloid process","obsolete":false,"parents":["HP:0009911"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Temporal styloid process elongated"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by treatment with nitroglycerin.","id":"HP:6000045","name":"Ameliorated by nitroglycerin","obsolete":false,"parents":["HP:0034536"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pulsus paradoxus refers to a systolic pressure drop greater than 10mmHg during inspiration.","id":"HP:6000046","name":"Pulsus paradoxus","obsolete":false,"parents":["HP:0032552"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Kussmaul pulse"},{"scope":"EXACT","text":"Paradoxical pulse"},{"scope":"EXACT","text":"Paradoxical pulse volume"}]} +{"alt_ids":[],"definition":"Chest pain can be induced by palpation of the chest, which may be an indication of costochondritis.","id":"HP:6000047","name":"Chest pain triggered by palpation","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chest pain reproducible on palpation"}]} +{"alt_ids":[],"definition":"Discomfort in the chest described as pressure, heaviness, or tightness.","id":"HP:6000048","name":"Chest pain described as pressure","obsolete":false,"parents":["HP:0025280"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Chest pain described as a tearing or ripping sensation.","id":"HP:6000049","name":"Chest pain described as ripping or tearing","obsolete":false,"parents":["HP:0025280"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by bending (flexing) a joint.","id":"HP:6000050","name":"Ameliorated by flexion","obsolete":false,"parents":["HP:0025254"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a finding that is situated or occurring around the thorax (chest).","id":"HP:6000051","name":"Located on the chest","obsolete":false,"parents":["HP:6000425"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a finding that is situated or occurring in or on the penis.","id":"HP:6000052","name":"Localized to the penis","obsolete":false,"parents":["HP:0012838"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A sonographic snowstorm pattern of the uterus that results from the presence of a complex vesicular intrauterine mass containing many grape-like cysts.","id":"HP:6000053","name":"Snowstorm pattern of uterus on ultrasound","obsolete":false,"parents":["HP:0031105"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of multiple previous births.","id":"HP:6000054","name":"Multiparity","obsolete":false,"parents":["HP:0032467"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of exposure to aquatic animals.","id":"HP:6000055","name":"Exposure to aquatic animals","obsolete":false,"parents":["HP:4000110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Multiple, oblong, fatty lesions in the superficial subcutaneous fatty tissue. They are mostly under 2 cm in long axis diameter. They demonstrate nodular (blush-like) increased fluid signal at unenhanced MRI and are markedly hyperechoic at ultrasound.","id":"HP:6000056","name":"Superficial blush-like subcutaneous fatty lesions","obsolete":false,"parents":["HP:0001001"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of giant cells in the dermis. Giant cells are formed by fusion of various cells such as macrophage, epithelioid cells, monocytes, etc., These are multi-nucleated, large in size, and generally present at the site of chronic inflammation and other granulomatous conditions.","id":"HP:6000057","name":"Dermal multinucleated giant cells","obsolete":false,"parents":["HP:0034924"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multinucleated giant cells in skin"}]} +{"alt_ids":[],"definition":"Applies to an eyelid lesion such as hemangiomas or varices that swells upon crying.","id":"HP:6000058","name":"Exacerbation of eyelid lesion by crying","obsolete":false,"parents":["HP:0025285"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality that is situated in the upper eyelid.","id":"HP:6000059","name":"Localized to upper eyelid","obsolete":false,"parents":["HP:6001266"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Superior palpebral location"},{"scope":"EXACT","text":"Upper lid location"}]} +{"alt_ids":[],"definition":"Repetitive air swallowing and belching and that may result in abdominal distention.","id":"HP:6000060","name":"Aerophagia","obsolete":false,"parents":["HP:0011458"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Passage from the vagina of hyatidiform tissue, appearing as clusters of vesicles (similar to small grapes) developed from the transformation of chorionic villi. This is a manifestation of a molar pregnancy (hyatidiform mole).","id":"HP:6000061","name":"Vaginal passage of hydatidiform mole tissue","obsolete":false,"parents":["HP:0034268"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Solid tissue passed by the vagina"}]} +{"alt_ids":[],"definition":"Abnormal fluid that seeps out of the nipple of the breast. Nipple discharge is categozied as lactational, physiologic, or pathologic.","id":"HP:6000062","name":"Abnormal nipple discharge","obsolete":false,"parents":["HP:0031094"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of gallstones within the intrahepatic bile ducts proximal to the right and left hepatic ducts.","id":"HP:6000063","name":"Hepatolithiasis","obsolete":false,"parents":["HP:0011040"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally frequent belching (expelling gas noisily from the stomach through the mouth).","id":"HP:6000064","name":"Excessive eructation","obsolete":false,"parents":["HP:0025142"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excessive belching"},{"scope":"EXACT","text":"Excessive burping"}]} +{"alt_ids":[],"definition":"Fibrosis located in the subepithelial portion of the esophagus. Fibrosisis is defined by the overgrowth, hardening, and/or scarring of various tissues and is attributed to excess deposition of extracellular matrix components including collagen.","id":"HP:6000065","name":"Esophageal fibrosis","obsolete":false,"parents":["HP:0002031"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This term refers to pain that is triggered by extending (straightening) the leg.","id":"HP:6000066","name":"Triggered by extension of leg","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Straight leg raising produces pain"}]} +{"alt_ids":[],"definition":"Amount of pyrophosphate uptake by the myocardium as demonstrated by by technetium pyrophosphate (99mTc-PYP) scintigraphy above the upper limit of normal.","id":"HP:6000067","name":"Increased myocardial pyrophosphate uptake","obsolete":false,"parents":["HP:0001637"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Refers to a sign or symptom that is improved or made more bearable by anesthetic block of a nerve.","id":"HP:6000068","name":"Ameliorated by nerve block","obsolete":false,"parents":["HP:0025254"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Tear film break up time (number of seconds that elapse between the last blink and the appearance of the first dry spot in the tear film) below the lower limit of normal.","id":"HP:6000069","name":"Brief tear break-up time","obsolete":false,"parents":["HP:0000632"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A granuloma localized to the skin, that is, a chronic inflammatory manifestation with localized aggregation of histiocytes with or without other inflammatory cells (such as plasma cells, eosinophils, or neutrophils), with or without necrosis, with or without vasculitis, with or without calcification, and with or without foreign bodies. Granulomas may be due to infection or chronic inflammatory disease or reactions to foreign material.","id":"HP:6000070","name":"Cutaneous granuloma","obsolete":false,"parents":["HP:0032252"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Formation of abnormal, extraskeletal bony tissue in the dermis (i.e., the layer of skin that lies beneath the epidermis and above the subcutaneous layer).","id":"HP:6000071","name":"Heterotopic dermal ossification","obsolete":false,"parents":["HP:0034924"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The depth of the outer muscular layer of the small bowel is below the lower limit of normal.","id":"HP:6000072","name":"Thinning of outer muscular layer of small bowel","obsolete":false,"parents":["HP:0002244"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental anomaly of renal lymphatics that results from a failure of the lymphatics to make communication with the rest of the lymph trunks. The abnormal lymphatics thus dilate and form cystic spaces at the renal sinus and in the perinephric space.","id":"HP:6000073","name":"Renal lymphangiectasia","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hygroma renale"},{"scope":"EXACT","text":"Peripelvic lymphangiectasia"},{"scope":"EXACT","text":"Renal lymphangiomatosis"}]} +{"alt_ids":[],"definition":"A myxoma (benign, locally infiltrative neoplasms arising from mesenchymal origin) localized to the pharynx.","id":"HP:6000074","name":"Pharyngeal myxoma","obsolete":false,"parents":["HP:0100638"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fibrin thrombi inside subcutaneous arterioles.","id":"HP:6000075","name":"Subcutaneous arteriolar thrombosis","obsolete":false,"parents":["HP:0001977"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Vasculitis (inflammation of blood vessels) in the kidney. Renal vasculitis can be observed with numerous disorders and presents clinically as rapidly progressive glomerulonephritis (RPGN) which is characterized by acute kidney injury (AKI), haematuria and proteinuria. Histological examination of the kidney reveals severe inflammation in the form of crescent formation, glomerular necrosis and vasculitis of small and medium sized vessels within the kidney.","id":"HP:6000076","name":"Renal vasculitis","obsolete":false,"parents":["HP:0033835"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of abnormally high amounts of iron in beta cells of the pancreas.","id":"HP:6000077","name":"Pancreatic islet beta cell iron deposition","obsolete":false,"parents":["HP:0012090"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the nose.","id":"HP:6000078","name":"Nasal hamartoma","obsolete":false,"parents":["HP:0010566"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:6001030"],"definition":"A type of metachromasia localized to a peripheral nerve. Metachromasia may be defined as the staining of tissue or tissue components such that the color of the tissue-bound dye complex differs significantly from the color of the original dye complex to give a marked contrast in color. For instance in metachromatic leukodystrophy, bloated Schwann cells, containing granularmetachromatic storage material May display a characteristic yellow green dichroism under crossed polarised light.","id":"HP:6000079","name":"Metachromatic intraneuronal lipid deposits","obsolete":false,"parents":["HP:0000759"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Peripheral nerve metachromasia"}]} +{"alt_ids":[],"definition":"Activity of phosphoserine phosphatase below the lower limit of normal in cultured fibroblasts.","id":"HP:6000080","name":"Reduced phosphoserine phosphatase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of alpha-aminoadipic semialdehyde synthase below the lower limit of normal in cultured fibroblasts.","id":"HP:6000081","name":"Reduced alpha-aminoadipic semialdehyde synthase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Alpha-aminoadipic semialdehyde synthase low in fibroblasts"}]} +{"alt_ids":[],"definition":"Activity of beta-ureidopropionase in the liver below the lower limit of normal.","id":"HP:6000082","name":"Reduced hepatic beta-ureidopropionase activity","obsolete":false,"parents":["HP:0034685"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Liver biopsy: beta-ureidopropionase activity low"}]} +{"alt_ids":[],"definition":"Activity of dihydropyrimidinase in the liver below the lower limit of normal.","id":"HP:6000083","name":"Reduced hepatic dihydropyrimidinase activity","obsolete":false,"parents":["HP:0034685"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fontanelle that is more deeply set than normal. Fontanelles are normally relatively firm and curve only slightly inward. A sunken fontanelle can be a sign of dehydration or marasmus.","id":"HP:6000084","name":"Sunken fontanelle","obsolete":false,"parents":["HP:0011328"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Formation of an angle (tilt) along the shaft of the penis.","id":"HP:6000085","name":"Angulation of penis","obsolete":false,"parents":["HP:0000036"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bent penis"}]} +{"alt_ids":[],"definition":"A past medical history of a procedure or catheterization involving the urethra.","id":"HP:6000086","name":"History of urethral procedure or catheterization","obsolete":false,"parents":["HP:0430103"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abormal enlargement of the penis owing to accumulation of fluid.","id":"HP:6000087","name":"Penile swelling","obsolete":false,"parents":["HP:0000036"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Penile edema"},{"scope":"EXACT","text":"Penile oedema"}]} +{"alt_ids":[],"definition":"Activity of the enzyme alpha-1,4-glucosidase activity in muscle tissue is below the lower limit of normal.","id":"HP:6000088","name":"Reduced muscle alpha-1,4-glucosidase activity","obsolete":false,"parents":["HP:0034526"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A brown tumor is a bone lesion that results from bony resorption by excess osteoclastic activity, and replacement by fibrous tissue and giant cells. Brown tumor is an uncommon pathognomonic sign of hyperparathyroidism.","id":"HP:6000089","name":"Brown tumor","obsolete":false,"parents":["HP:0011842"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Osteitis fibrosa cystica"}]} +{"alt_ids":[],"definition":"Flame-figures are composed of a central part consisting of collagen fibers and eosinophilic granules, surrounded by a histiocytic and eosinophilic infiltrate. Subsequently, eosinophils tend to disappear and are replaced by phagocytic granulomas, consisting of histiocytes and sometimes giant cells, around the flame figures.","id":"HP:6000090","name":"Dermal flame figures","obsolete":false,"parents":["HP:0034924"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applied to a sign or symptom that is present during pregnancy and becomes worse following birth.","id":"HP:6000091","name":"Postpartum exacerbation","obsolete":false,"parents":["HP:0025285"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Symptoms worsen in post-partum state"}]} +{"alt_ids":[],"definition":"History of having taken retinoids.","id":"HP:6000092","name":"Retinoid exposure","obsolete":false,"parents":["HP:4000112"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Exposure to retinoids"}]} +{"alt_ids":[],"definition":"History of having been treated with propylthiouracil.","id":"HP:6000093","name":"Propylthiouracil exposure","obsolete":false,"parents":["HP:4000112"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Exposure to propylthiouracil"}]} +{"alt_ids":[],"definition":"History of spending a substantial amount of time outdoors with occupation or hobbies related to the outdoors, including hunting, gardening, farming, agriculture, horticulture, miners, working in wet fields.","id":"HP:6000094","name":"History of outdoor activities","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A sinus tract is an abnormal channel that originates from the skin or a mucous surface to a deep-seated focus of suppuration.","id":"HP:6000095","name":"Draining sinus tract in skin","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Discharging sinus"},{"scope":"EXACT","text":"Draining tract in skin"},{"scope":"EXACT","text":"Tract under skin draining associated abscess"}]} +{"alt_ids":[],"definition":"Past medical history of surgical replacement of the cornea with corneal tissue from a donor.","id":"HP:6000096","name":"Corneal transplant history","obsolete":false,"parents":["HP:0430103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"History of corneal transplantation"}]} +{"alt_ids":[],"definition":"Breakage of the capsule of the lens. This is most often observed as a complication of lens surgery, but this term refers to lens capsule rupture not related to surgery or major trauma.","id":"HP:6000097","name":"Spontaneous lens capsule rupture","obsolete":false,"parents":["HP:0000517"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A past medical history of wearing contact lenses.","id":"HP:6000098","name":"Contact lens wearer","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increase in thickness of the mucosa of the airways above the upper limit of normal.","id":"HP:6000099","name":"Airway mucosal thickening","obsolete":false,"parents":["HP:0012253"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased (more negative) voltage across the nasal epithelium.","id":"HP:6000100","name":"Hyperpolarized transepithelial nasal potential difference","obsolete":false,"parents":["HP:0002795"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An adhesion between the conjunctiva of the eyelid and the cornea.","id":"HP:6000101","name":"Corneopalpebral synechiae","obsolete":false,"parents":["HP:0000481","HP:0000492"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Intraductal papilloma is a benign tumor found within breast ducts. The abnormal proliferation of ductal epithelial cells causes growth. A solitary intraductal papilloma is usually found centrally posterior to the nipple affecting the central duct. Multiple intraductal papillomas are located peripherally, found in any breast quadrant affecting the peripheral ducts.","id":"HP:6000102","name":"Breast intraductal papilloma","obsolete":false,"parents":["HP:0100013"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Precipitous labor is extremely rapid labor and delivery, usually defined as expulsion of the fetus within less than 3 hours of commencement of regular contractions.","id":"HP:6000103","name":"Precipitous labor","obsolete":false,"parents":["HP:0002686"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Precipitous delivery"}]} +{"alt_ids":[],"definition":"Maternal history of a pregnancy with two fetuses in the uterus.","id":"HP:6000104","name":"Twin pregnancy","obsolete":false,"parents":["HP:0002686"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A swelling or enlargement localized to the vagina. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.","id":"HP:6000105","name":"Vaginal mass","obsolete":false,"parents":["HP:0000142"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pain that is elicited by palpation of the region inside of the costovertebral angle, which is formed by the 12th rib and the spine.","id":"HP:6000106","name":"Costovertebral angle tenderness","obsolete":false,"parents":["HP:0012531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Costovertebral angle pain"}]} +{"alt_ids":[],"definition":"Pain that is elicited by moving the uterine cervix. This finding can be ascertained by pelvic exam. Cervical motion tenderness is a gynecological exam finding that could be indicative of peritoneal infection.","id":"HP:6000107","name":"Cervical motion tenderness","obsolete":false,"parents":["HP:0012531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Chandelier sign"}]} +{"alt_ids":[],"definition":"Fluid that originates from the urethra that is not urine, pre-ejaculate or semen.","id":"HP:6000108","name":"Abnormal urethral discharge","obsolete":false,"parents":["HP:0000795"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Abnormal penile discharge"}]} +{"alt_ids":[],"definition":"The presence of an extra digital crease in and individual with normal joint anatomy.","id":"HP:6000109","name":"Supernumerary finger flexion crease","obsolete":false,"parents":["HP:0006143"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Refers to a phenotypic abnormality that mainly affect large joints.","id":"HP:6000110","name":"Large joint predominance","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Refers to a phenotypic abnormality that affects a single joint.","id":"HP:6000111","name":"Monoarticular","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the upper palmar crease whereby the crease widens and ends between the second and third fingers and is said to resemble a hockey stick.","id":"HP:6000112","name":"Hockey-stick palmar crease","obsolete":false,"parents":["HP:0010490"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hockey-stick crease"}]} +{"alt_ids":[],"definition":"The amount of succinyladenosine in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000113","name":"Elevated urinary succinyladenosine level","obsolete":false,"parents":["HP:0033161"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of 5-hydroxymethyluracil in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000114","name":"Elevated urinary 5-hydroxymethyluracil level","obsolete":false,"parents":["HP:0033162"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"5-hydroxymethyluracil high in urine"}]} +{"alt_ids":[],"definition":"The amount of creatinine in the urine, normalized for urine concentration, is below the lower limit of normal.","id":"HP:6000115","name":"Decreased urine creatinine level","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of deoxyuridine in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000116","name":"Elevated urinary deoxyuridine level","obsolete":false,"parents":["HP:0033162"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deoxyuridine high in urine"}]} +{"alt_ids":[],"definition":null,"id":"HP:6000117","name":"obsolete Elevated urinary AICA-riboside level","obsolete":true,"parents":[],"replaced_by":["HP:0034565"],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of dihydrouracil in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000118","name":"Elevated urinary dihydrouracil level","obsolete":false,"parents":["HP:0033162"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dihydrouracil high in urine"}]} +{"alt_ids":[],"definition":"The amount of dihydrothymine in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000119","name":"Elevated urinary dihydrothymine level","obsolete":false,"parents":["HP:0033162"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dihydrothymine in urine high"}]} +{"alt_ids":[],"definition":"The amount of sulfatides in the urine, normalized for urine concentration, is above the upper limit of normal. Sulfatides are derived from GalCer via esterification of a sulfate group to 3-hydroxyl of the galactose moiety.","id":"HP:6000120","name":"Elevated urinary sulfatide level","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of xanthurenic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000121","name":"Elevated urinary xanthurenic acid level","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of N-acetylglucosamine-rich oligosaccharides in the urine.","id":"HP:6000122","name":"Increased urinary N-acetylglucosamine-rich oligosaccharide level","obsolete":false,"parents":["HP:0010471"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of 2'-deoxyadenosine (dAdo) in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000123","name":"Elevated urinary 2'-deoxyadenosine level","obsolete":false,"parents":["HP:0033161"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"2'-deoxyadenosine (dAdo) elevated in urine"},{"scope":"EXACT","text":"Elevated urinary dAdo level"}]} +{"alt_ids":[],"definition":"Positive (abnormal) result of the 2,4-dinitrophenylhydrazine urine test, which indicates the presence of alpha-ketoacids in the urine.","id":"HP:6000124","name":"Positive 2,4-dinitrophenylhydrazine urine test","obsolete":false,"parents":["HP:0033456"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of dolichol in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000125","name":"Elevated urinary dolichol level","obsolete":false,"parents":["HP:6000531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dolichol levels high in urine"}]} +{"alt_ids":[],"definition":"The amount of bile acids in the urine, normalized for urine concentration, is below the lower limit of normal.","id":"HP:6000126","name":"Decreased urinary bile acid level","obsolete":false,"parents":["HP:0031980"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The ratio of creatine to creatinine concentration in the urine is above the upper limit of normal.","id":"HP:6000127","name":"Elevated urinary creatine/creatinine ratio","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased urine Cr/Crn ratio"}]} +{"alt_ids":[],"definition":"The amount of thymidine in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000128","name":"Elevated urinary thymidine level","obsolete":false,"parents":["HP:0033162"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of glutarylglycine in the urine, normalized for urine concentration, is below the lower limit of normal.","id":"HP:6000129","name":"Elevated urinary glutarylglycine level","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of indican in the urine. Urinary indican concentration may be elevated in small bowel bacterial overgrowth. Indican is produced by bacterial deconjugation of dietary tryptophan to indole which is absorbed at all levels of the intestine, but principally from the small bowel.","id":"HP:6000130","name":"Elevated urinary indican level","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Dacryolith is a concretion (accumulation of sediment) within the nasolacrimal system.","id":"HP:6000131","name":"Dacrolith","obsolete":false,"parents":["HP:0000614"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lacrimal calculus"},{"scope":"EXACT","text":"Tear stone"}]} +{"alt_ids":[],"definition":"Activity of gamma-glutamylcysteine synthetase (EC 6.3.2.2) in erythrocytes below the lower limit of normal.","id":"HP:6000132","name":"Reduced erythrocyte gamma-glutamyl cysteine synthetase activity","obsolete":false,"parents":["HP:0030272"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gamma-glutamyl cysteine synthetase low in erythrocytes"}]} +{"alt_ids":[],"definition":"The activity of nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase in erythrocytes (red blood cells) is below the lower limit of normal.","id":"HP:6000133","name":"Decreased erythrocyte nicotinamide adenine dinucleotide-cytochrome b5 reductase activity","obsolete":false,"parents":["HP:0030272"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"NADH-cytochrome b5 reductase low"}]} +{"alt_ids":[],"definition":"Activity of alpha-methylacyl-CoA racemase (AMACR; EC 5.1.99.4) below the lower limit of normal in cultured fibroblasts.","id":"HP:6000134","name":"Reduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Volume of semen in ejaculate below the lower limit of normal. This finding can be ascertained by semen analysis. Comment: Sperm are produced within the testis, in the process of spermatogenesis, then travel through the male reproductive tract (the seminiferous tubules, epididymis, vas deferens, prostate and urethra). As the sperm travel, seminal fluid is added from the seminal vesicles, prostate, testis and epididymis and periurethral glands. The function of the ejaculate is to transport sperm into the female genital tract and to provide a suitable environment for sperm survival during this transit.","id":"HP:6000135","name":"Low semen volume","obsolete":false,"parents":["HP:0012874"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypospermia"}]} +{"alt_ids":[],"definition":"Applies to an abnormality that is situated in (or predominant in) the elbow.","id":"HP:6000136","name":"Elbow localization","obsolete":false,"parents":["HP:0012838"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal enlargement of the visible portion of the distal nail matrix that extends beyond the proximal nail fold, which is referred to as the lunula.","id":"HP:6000137","name":"Enlarged lunula","obsolete":false,"parents":["HP:0001597"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Macrolunula"},{"scope":"EXACT","text":"Nails: lunulae enlarged"}]} +{"alt_ids":[],"definition":"Applies to an abnormality that is situated in (or predominant in) the heel.","id":"HP:6000138","name":"Heel localization","obsolete":false,"parents":["HP:0012838"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Heel predominance"}]} +{"alt_ids":[],"definition":"Thin, red to reddish-brown lines of blood (hemorrhages) under the nails. Splinter hemorrhages run vertically under the nails.","id":"HP:6000139","name":"Splinter hemorrhages","obsolete":false,"parents":["HP:0001597"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lateral thrust (LT) refers to an abnormal knee joint motion in the early stance phase where the knee joint center moves laterally. Also known as varus thrust, LR is defined as the dynamic worsening or abrupt onset of varus (bow-leg) alignment as the limb accepts weight (stance phase), with a return to less varus and more neutral alignment during lift-off and the non-weight-bearing (swing) phase of gait, varus thrust is a potent mechanical risk factor for medial knee osteoarthritis progression.","id":"HP:6000140","name":"Lateral thrust","obsolete":false,"parents":["HP:0034670"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Varus thrust"}]} +{"alt_ids":[],"definition":"A contusion is a region of injured tissue in which blood capillaries have been ruptured without laceration (bruise). Brain contusions are bruises of the cortical surface that damage the surface from the outside inward, producing disruption of tissue and vessels. The term cerebral contusion describes the pathology of focal necrosis and hemorrhage, typically observed in older children, involving particularly cerebral cortex and subcortical white matter. Such lesions are usually found in coup and contrecoup, as well as inferior orbital, frontal, and temporal locations. Cerebral contusions cause permanent damage to tissues of the cerebrum. The etiology of cerebral contusion is trauma to the head.","id":"HP:6000141","name":"Cerebral contusion","obsolete":false,"parents":["HP:0002060"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A mass of accumulated hardened fecal matter.","id":"HP:6000142","name":"Fecolith","obsolete":false,"parents":["HP:0002250"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Coprolith"},{"scope":"EXACT","text":"Fecaloma"},{"scope":"EXACT","text":"Stercolith"}]} +{"alt_ids":[],"definition":"Appendicitis is an inflammation of the vermiform appendix, which is a hollow organ located at the tip of the cecum, usually in the right lower quadrant of the abdomen.","id":"HP:6000143","name":"Appendicitis","obsolete":false,"parents":["HP:0002250"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A severely scarred portion of infarcted ventricular myocardium that does not contract normally but instead bulges outward while the rest of the ventricle contracts during systole.","id":"HP:6000144","name":"Left ventricular aneurysm","obsolete":false,"parents":["HP:0001711"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal form of the heart seen upon chest radiography in which the heart displays an upturned apex and slight concave pulmonary artery segment. This configuration is said to resemble a boot.","id":"HP:6000145","name":"Boot-shaped cardiac silhouette","obsolete":false,"parents":["HP:0001627"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Boot shaped cardiac silhouette"}]} +{"alt_ids":[],"definition":"Hydrosalpinx is a distension or dilatation of the fallopian tube in the presence of a distal tubal occlusion.","id":"HP:6000146","name":"Hydrosalpinx","obsolete":false,"parents":["HP:0011027"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in the level of 3-methylhex-2,4-dienedioic acid or 3-methylhex-3,4-dienedioic acid in the brain identified by magnetic resonance spectroscopy (MRS).","id":"HP:6000147","name":"Elevated methylhex-dienedioic level by MRS","obsolete":false,"parents":["HP:0012705"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased signal (contrast enhancement) surrounding the liver observed on computer tomography or magnetic resonance imaging following administration of contrast agents.","id":"HP:6000148","name":"Perihepatic enhancement","obsolete":false,"parents":["HP:0410042"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Peri-hepatic enhancement"}]} +{"alt_ids":[],"definition":"The in vitro contracture test determines the sensitivity of freshly obtained skeletal muscle specimens to caffeine or halothane applied to a bathing solution. Muscles from persons susceptible to malignant hyperthermia have lower contracture thresholds for these agents than do normal muscle.","id":"HP:6000149","name":"Reduced in vitro contracture test threshold","obsolete":false,"parents":["HP:0011804"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Caffeine in vitro contracture test positive"},{"scope":"EXACT","text":"Halothane in vitro contracture test positive"}]} +{"alt_ids":[],"definition":"Reduced strength (amplitude) of the F-wave, which is an electrophysiological artifact produced by antidromic activation of motoneurons following distal electrical stimulation of motor nerve fibers.","id":"HP:6000150","name":"Reduced F-wave amplitude","obsolete":false,"parents":["HP:0030179"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase in size of peroxisomes.","id":"HP:6000151","name":"Enlarged peroxisomes","obsolete":false,"parents":["HP:0034552"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Peroxisomal enlargement"}]} +{"alt_ids":[],"definition":"A non-malignant growth, or enlargement, of the adrenal glands, specifically the cortex, although the cortex cannot be definitively identified by conventional imaging. Adrenal cortical hyperplasia is defined radiologically as a non-malignant growth, or enlargement, of the adrenal glands.","id":"HP:6000152","name":"Adrenocortical hyperplasia","obsolete":false,"parents":["HP:0000849"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of lymphocytes in the parotid gland. This feature is generally defined as a count of lymphocytes per area that is above normal limits on histopathological examination.","id":"HP:6000153","name":"Lymphocytic infiltration of the parotid gland","obsolete":false,"parents":["HP:0000197"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A granuloma (a focal aggregate of immune cells that forms in response to a persistent inflammatory stimulus) localiyed to the bone marrow. A granuloma characteristically demonstrates the compact organization of mature macrophages, which may or may not be associated with other inflammatory cell types.","id":"HP:6000154","name":"Bone marrow granuloma","obsolete":false,"parents":["HP:0005561"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neurons.","id":"HP:6000155","name":"Neuronal intranuclear inclusion bodies","obsolete":false,"parents":["HP:0012757","HP:0020068"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Wasting (shrinking) of the pancreas.","id":"HP:6000156","name":"Pancreatic atrophy","obsolete":false,"parents":["HP:0012090"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Number (count) of pancreatic acinar cells reduced below normal. This feature can be ascertained by pancreas biopsy.","id":"HP:6000157","name":"Decreased pancreatic acinar cell density","obsolete":false,"parents":["HP:0012090"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pancreatic biopsy: acinar structures reduced"}]} +{"alt_ids":[],"definition":"An abnormal result of the filipin test. This test is based on the reaction of unesterified cholesterol with fluorescent antibiotic filipin giving a strongly fluorescent, stable cholesterol-filipin complex suitable for in situ detection. An abnormal test result is present if there is a perinuclear accumulation of staining in lysosomal storage organelles (LSOs).","id":"HP:6000158","name":"Unesterified cholesterol accumulation in cultured fibroblasts","obsolete":false,"parents":["HP:0004356"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive filipin test"}]} +{"alt_ids":[],"definition":null,"id":"HP:6000159","name":"obsolete Hepatic lipid-laden macrophage infiltration","obsolete":true,"parents":[],"replaced_by":["HP:0034029"],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of foamy cells (lipid-laden macrophages) in the parenchyma of the spleen.","id":"HP:6000160","name":"Splenic lipid-laden macrophage infiltration","obsolete":false,"parents":["HP:0025408"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Spleen biopsy: lipid-laden macrophages"},{"scope":"EXACT","text":"Splenic foamy cells"}]} +{"alt_ids":[],"definition":"Concentration or activity of N-acetylglutamate synthase in liver tissue below the lower limit of normal.","id":"HP:6000161","name":"Reduced hepatic N-acetylglutamate synthase activity","obsolete":false,"parents":["HP:0034685"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Ingestion of large amounts of licorice.","id":"HP:6000162","name":"Excessive licorice consumption","obsolete":false,"parents":["HP:4000123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality that is situated in (or predominant in) the shoulder.","id":"HP:6000163","name":"Shoulder localization","obsolete":false,"parents":["HP:0012838"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Intrauterine devices (IUDs) are used for contraception. Rarely pregnancy occurs despite the presence of an IUD. Such pregnancies are associated with an increased risk of spontaneous abortion and preterm delivery due to infection, and a higher risk of maternal septic complications.","id":"HP:6000164","name":"Pregnancy conceived despite intrauterine device","obsolete":false,"parents":["HP:0002686"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The mother of a fetus or index patient has a history of folate deficiency during the corresponding pregnancy.","id":"HP:6000165","name":"Maternal folate deficiency","obsolete":false,"parents":["HP:0002686"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The mother of a fetus or index patient has a history of abnormally low zinc levels during the corresponding pregnancy.","id":"HP:6000166","name":"Maternal zinc deficiency","obsolete":false,"parents":["HP:0002686"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Intrauterine devices (IUD) are commonly used for contraception. IUD complications are rare, but include perforation, pelvic infection, expulsion, missing strings, and difficult IUD removal.","id":"HP:6000167","name":"Use of intrauterine device","obsolete":false,"parents":["HP:0032467"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A past medical history of a recent central venous catheter (CVC). A CVC is an indwelling device inserted into a large, central vein (most commonly the internal jugular, subclavian, or femoral) and advanced until the terminal lumen resides within the inferior vena cava, superior vena cava, or right atrium. CVCs can be a necessary producre for critically ill patients with indications such as total parenteral nutrition administration, dialysis, plasmapheresis, medication administration, and hemodynamic monitoring, and to facilitate further complex interventions such as transvenous pacemaker placement. Complications include arrhythmia, central vein stenosis, and sepsis.","id":"HP:6000168","name":"History of recent central venous catheter","obsolete":false,"parents":["HP:4000144"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A past medical history of a recent depence on total parenteral nutrition (TPN), which refers to intravenously administered nutrition being the only source of nutrition the patient is receiving.","id":"HP:6000169","name":"History of total parenteral nutrition dependence","obsolete":false,"parents":["HP:4000144"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"This refers to testicular pain that is lessened or made more bearable by elevation of the testicle.","id":"HP:6000170","name":"Pain alleviated by testicle elevation","obsolete":false,"parents":["HP:0025254"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prehn's sign"},{"scope":"EXACT","text":"Testicle elevation relieves pain"}]} +{"alt_ids":[],"definition":"An abnormal enlargement or swelling localized to the abdominal wall (the skin, fascia, and muscle encases the abdominal cavity and viscera). The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.","id":"HP:6000171","name":"Abdominal wall mass","obsolete":false,"parents":["HP:0004298"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The tympanic membrane protrudes (swells outwards). This feature may be observed with otoscopy.","id":"HP:6000172","name":"Tympanic membrane bulging","obsolete":false,"parents":["HP:0040090"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to pain of the ear that is worsened, aggravated, or exacerbated by touching or moving the tragus or pinna.","id":"HP:6000173","name":"Ear pain exacerbated by manipulating tragus or pinna","obsolete":false,"parents":["HP:0025285"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal enlargement or swelling localized to the side of the neck. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.","id":"HP:6000174","name":"Lateral neck mass","obsolete":false,"parents":["HP:0025668"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality that is situated in the occiput (back part of the head).","id":"HP:6000175","name":"Occipital location","obsolete":false,"parents":["HP:0012838"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abormal enlargement of the front part of the neck owing to accumulation of fluid.","id":"HP:6000176","name":"Anterior neck swelling","obsolete":false,"parents":["HP:0025668"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal enlargement of the uvula related to an abnormal accumulation of fluid.","id":"HP:6000177","name":"Uvular swelling","obsolete":false,"parents":["HP:0000172"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:6000178","name":"obsolete Purulent drainage from Stensen duct","obsolete":true,"parents":[],"replaced_by":["HP:0034781"],"synonyms":[]} +{"alt_ids":[],"definition":"History of having received gastric bypass surgery. This is a procedure that reduces the functional volume of the stomach and is used to treat morbid obesity.","id":"HP:6000179","name":"History of gastric bypass surgery","obsolete":false,"parents":["HP:0430103"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by exposure to volatile organic compounds (VOCs), which comprise various organic chemicals which are released as gases from different liquids or solids.","id":"HP:6000180","name":"Triggered by volatile organic compounds","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A medical history of having undergone radiation therapy, which is a treatment that uses ionizing radiation for purposes such as the control the growth of malignant cells in cancer treatment.","id":"HP:6000181","name":"History of radiation therapy","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Failure to record otoacoustic emissions (OAE), i.e., sounds generated from the cochlea in response to an acoustic stimulus and transmitted across the middle ear to the external ear canal.","id":"HP:6000182","name":"Absent otoacoustic emissions","obsolete":false,"parents":["HP:0031704"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The tympanic membrane (eardrum, myringa) is a thin, semitransparent, oval membrane, approximately 1 cm in diameter, that separates the external acoustic meatus from the tympanic cavity. Thickening refers to an increase of the dimension across the membrane.","id":"HP:6000183","name":"Thickened tympanic membrane","obsolete":false,"parents":["HP:0040090"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Filum terminale lipomas (FTLs) are a type of lumbosacral lipoma in which the fat is entirely within the filum terminale and separate from the conus medullaris.","id":"HP:6000184","name":"Filum terminale lipoma","obsolete":false,"parents":["HP:6000590"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fatty filum terminale"},{"scope":"EXACT","text":"LFT"},{"scope":"EXACT","text":"Lipoma of filum terminale"},{"scope":"EXACT","text":"Lipoma of the filum terminale"}]} +{"alt_ids":[],"definition":"The relative concentration of tetrahydrocortisol plus 5-alpha-tetrahydrocortisol relative to that of tetrahydrocortisone is below the lower limit of normal.","id":"HP:6000185","name":"Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio","obsolete":false,"parents":["HP:0011731"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against soluble liver antigen.","id":"HP:6000186","name":"Anti-soluble liver antigen/liver pancreas antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-SLA/LP"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against thrombospondin type I domain-containing 7A.","id":"HP:6000187","name":"Anti-thrombospondin type I domain-containing 7A antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-THSD7A antibody"},{"scope":"EXACT","text":"Anti-THSD7A antibody present in blood"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against sperm antigens.","id":"HP:6000188","name":"Antisperm antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of ficolin-3 in the blood circulation is below the lower limit of normal.","id":"HP:6000189","name":"Decreased circulating ficolin-3 concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased ficolin-3 concentration"},{"scope":"EXACT","text":"Decreased ficolin-3 level"},{"scope":"EXACT","text":"Decreased ficolin-3 level in blood"},{"scope":"EXACT","text":"Reduced ficolin-3 concentration"},{"scope":"EXACT","text":"Reduced ficolin-3 level"},{"scope":"EXACT","text":"Reduced ficolin-3 level in blood"}]} +{"alt_ids":[],"definition":"A structural abnormality of the seminal vesicle. The seminal vesicles are a pair of glands that also include the prostate gland and the bulbourethral glands and are located in the pelvis superior to the rectum, inferior to the fundus of the bladder and posterior to the prostate. The seminal vesicles contribute around 70% of the fluid that will eventually become semen.","id":"HP:6000190","name":"Abnormal seminal vesicle morphology","obsolete":false,"parents":["HP:0000022"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A cyst (sac-like mass that may contain serous liquid or semisolid material) caused by distention of the seminal vesicle due to atresia of the ejaculatory duct.","id":"HP:6000191","name":"Seminal vesicle cyst","obsolete":false,"parents":["HP:6000190"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of exposure to respirable crystalline silica (SiO2).","id":"HP:6000192","name":"Silica dust exposure","obsolete":false,"parents":["HP:4000110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against osteoprotegerin.","id":"HP:6000193","name":"Anti-osteoprotegerin antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-OPG antibody positivity"}]} +{"alt_ids":[],"definition":"A past medical history of having had a surgical procedure to remove the adrenal glands.","id":"HP:6000194","name":"History of adrenalectomy","obsolete":false,"parents":["HP:0430103"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of the enzyme mitochondrial citrate synthase (EC:2.3.3.1) in muscle tissue is above the upper limit of normal.","id":"HP:6000195","name":"Elevated mitochondrial citrate synthase activity","obsolete":false,"parents":["HP:0034526"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of the enzyme lactate dehdrogenase (LHD; 1.1.1.27) in muscle tissue is below the lower limit of normal. LDH catalyzes the conversion of pyruvate to lactate and back, as it converts NAD+ to NADH and back.","id":"HP:6000196","name":"Reduced muscle lactate dehydrogenase activity","obsolete":false,"parents":["HP:0034526"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Muscle biopsy: lactate dehydrogenase low"}]} +{"alt_ids":[],"definition":"Activity of the enzyme Phosphoglycerate mutase (PGM) in muscle tissue is below the lower limit of normal. PGM is an enzyme that catalyzes step 8 of glycolysis (EC 5.4.2.11).","id":"HP:6000197","name":"Reduced muscle phosphoglycerate mutase activity","obsolete":false,"parents":["HP:0034526"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of the enzyme muscle phosphorylase kinase (PhK) in muscle tissue below the lower limit of normal.","id":"HP:6000198","name":"Reduced muscle phosphorylase kinase activity","obsolete":false,"parents":["HP:0034526"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of 3-beta-hydroxysteroid-delta-5-desaturase, also known as Sterol C5-desaturase (EC 1.3.3.2), or SC5D below the lower limit of normal in cultured fibroblasts.","id":"HP:6000199","name":"Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of glucose-6-phosphatase (EC 3.1.3.9) in the liver below the lower limit of normal.","id":"HP:6000200","name":"Reduced hepatic glucose-6-phosphatase activity","obsolete":false,"parents":["HP:0034685"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced liver G6PC activity"}]} +{"alt_ids":[],"definition":"Activity of glucose-6-phosphate translocase in liver below the lower limit of normal.","id":"HP:6000201","name":"Reduced hepatic glucose-6-phosphate translocase activity","obsolete":false,"parents":["HP:0034685"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of red blood cells (RBCs) in the cerebrospinal fluid (CSF). The CSF normally does not contain RBCs (erythrocytes).","id":"HP:6000202","name":"Cerebrospinal fluid erythrocytes","obsolete":false,"parents":["HP:0002921"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of cholestanol in the cerebrospinal fluid (CSF) is above the upper limit of normal. Cholestanol is the 5-alpha-dihydro derivative of cholesterol.","id":"HP:6000203","name":"Elevated CSF cholestanol concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated CSF cholestanol"}]} +{"alt_ids":[],"definition":"The concentration of apolipoprotein B in the cerebrospinal fluid (CSF) is above the upper limit of normal.","id":"HP:6000204","name":"Elevated CSF apolipoprotein B concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Apolipoprotein B high in CSF"}]} +{"alt_ids":[],"definition":"The concentration of myelin basic protein in the cerebrospinal fluid (CSF) is above the upper limit of normal.","id":"HP:6000205","name":"Elevated CSF myelin basic protein concentration","obsolete":false,"parents":["HP:0025456"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Myelin basic protein high in CSF"}]} +{"alt_ids":[],"definition":"The concentration of pyridoxal-5'-phosphate in the cerebrospinal fluid (CSF) is below the lower limit of normal.","id":"HP:6000206","name":"Reduced CSF pyridoxal-5'-phosphate concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pyridoxal-5'-phosphate low in CSF"}]} +{"alt_ids":[],"definition":"The concentration of thymine in the cerebrospinal fluid (CSF) is above the upper limit of normal.","id":"HP:6000207","name":"Elevated CSF thymine concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thymine high in CSF"}]} +{"alt_ids":[],"definition":"The concentration of 5-hydroxymethyluracil in the cerebrospinal fluid (CSF) is above the upper limit of normal.","id":"HP:6000208","name":"Elevated CSF 5-hydroxymethyluracil concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"5-hydroxymethyluracil high in CSF"}]} +{"alt_ids":[],"definition":"The concentration of N-carbamyl-beta-aminoisobutyric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.","id":"HP:6000209","name":"Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"N-carbamyl-beta-aminoisobutyric acid high in CSF"}]} +{"alt_ids":[],"definition":"The concentration of N-carbamyl-beta-alanine in the cerebrospinal fluid is above the upper limit of normal.","id":"HP:6000210","name":"Elevated CSF N-carbamyl-beta-alanine concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"N-carbamyl-beta-alanine high in CSF"}]} +{"alt_ids":[],"definition":"The concentration of dihydrouracil in the cerebrospinal fluid (CSF) is above the upper limit of normal.","id":"HP:6000211","name":"Elevated CSF dihydrouracil concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dihydrouracil high in CSF"}]} +{"alt_ids":[],"definition":"The concentration of dihydrothymine in the cerebrospinal fluid is above the upper limit of normal.","id":"HP:6000212","name":"Elevated CSF dihydrothymine concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dihydrothymine high in CSF"}]} +{"alt_ids":[],"definition":"The concentration of angiotensin-converting enzyme in the blood circulation is above the upper limit of normal.","id":"HP:6000213","name":"Elevated circulating angiotensin-converting enzyme concentration","obsolete":false,"parents":["HP:0011021"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Angiotensin-converting enzyme (ACE) high in blood"},{"scope":"EXACT","text":"Elevated angiotensin-converting enzyme concentration"},{"scope":"EXACT","text":"Elevated angiotensin-converting enzyme level"},{"scope":"EXACT","text":"Elevated angiotensin-converting enzyme level in blood"},{"scope":"EXACT","text":"Increased angiotensin-converting enzyme concentration"},{"scope":"EXACT","text":"Increased angiotensin-converting enzyme level"},{"scope":"EXACT","text":"Increased angiotensin-converting enzyme level in blood"}]} +{"alt_ids":[],"definition":"The activity of 3-hydroxyisobutyrate dehydrogenase in the blood circulation is below the lower limit of normal.","id":"HP:6000214","name":"Decreased 3-hydroxyisobutyrate dehydrogenase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The activity of 3-hydroxyisobutyryl-CoA hydrolase in the blood corculation is below the lower limit of normal.","id":"HP:6000215","name":"Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"3-hydroxyisobutyryl-CoA hydrolase deficiency"}]} +{"alt_ids":[],"definition":"Activity of 3-hydroxy-3-methylglutaryl coenzyme A lyase (HMG CoA lyase) below the lower limit of normal in cultured fibroblasts.","id":"HP:6000216","name":"Reduced HMG-CoA lyase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The activity of acyl-CoA oxidase activity in the blood circulation is below the lower limit of normal.","id":"HP:6000217","name":"Reduced circulating acyl-CoA oxidase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of the enzyme xanthine oxidase (EC 1.17.3.2) below the lower limit of normal.","id":"HP:6000218","name":"Reduced circulating xanthine oxidase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Xanthine oxidase low"}]} +{"alt_ids":[],"definition":"The activity of methylmalonate semialdehyde dehydrogenase ( EC 1.2.1.27) in cultured fibroblasts is below the lower limit of normal.","id":"HP:6000219","name":"Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Methylmalonic semialdehyde dehydrogenase deficiency"}]} +{"alt_ids":[],"definition":"An abnormal enlargement or swelling localized to the pharynx (i.e., the throat, the space that connects the nose and mouth to the larynx and esophagus). The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.","id":"HP:6000220","name":"Pharyngeal mass","obsolete":false,"parents":["HP:0033151"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of hidden (occult) blood in the stool.","id":"HP:6000221","name":"Positive stool occult blood test","obsolete":false,"parents":["HP:0031685"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive faecal occult blood test"},{"scope":"EXACT","text":"Positive fecal occult blood test"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort that occurs when passing stool.","id":"HP:6000222","name":"Painful defecation","obsolete":false,"parents":["HP:0012531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pain associated with bowel movements"}]} +{"alt_ids":[],"definition":"Medical history of a recent ingestion of a caustic substance, i.e., a highly acidic or alkaline chemicals that can cause severe burns to the mouth and digestive tract when swallowed.","id":"HP:6000223","name":"Recent history of caustic substance ingestion","obsolete":false,"parents":["HP:4000144"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Failure to pass meconium (the first stool following birth) in the first 48 hours of life.","id":"HP:6000224","name":"Delayed passage of meconium","obsolete":false,"parents":["HP:0001197"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The second sound can remain single throughout the respiratory cycle due to either absence of one component or to synchronous occurrence of the two components. Since the pulmonary vascular impedance increases with age, many normal patients over age 50 have a single S2 or at most a narrow physiologic split on inspiration because P2 occurs early. A single second sound, however, is usually due to inability to auscultate a relatively soft pulmonic component. Such inability is rare in healthy infants, children, and young adults and is uncommon even in older persons under good auscultatory conditions using a rigid stethoscopic diaphragm.","id":"HP:6000225","name":"Single second heart sound","obsolete":false,"parents":["HP:0031661"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The gradient (in this case, drop) in pressure across the aortic valve is above the upper limit of normal.","id":"HP:6000226","name":"Elevated aortic transvalvular pressure gradient","obsolete":false,"parents":["HP:0030964"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A past surgical history of the implanation of an artificial heart valve.","id":"HP:6000227","name":"Prosthetic heart valve","obsolete":false,"parents":["HP:0430103"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hyperoxia test is the initial method to distinguish critical congenital heart disease (CCHD) from pulmonary disease. The test consists in measuring an arterial blood gas at room air and 100% inspired oxygen after 10 minutes. Neonates with congenital heart disease are usually not able to increase PaO2 above 100 mm Hg during 100% oxygen administration. In patients with pulmonary disease, PaO2 generally increased greater than or equal to 100 mm Hg with 100% oxygen as ventilation-perfusion discrepancies are overcome. A positive result indicates the cardiac origin and further cardiac workup is indicated to rule out CCHD.","id":"HP:6000228","name":"Failure to increase oxygen saturation on hyperoxia test","obsolete":false,"parents":["HP:0011025"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Placement of the nipples at a higher than normal location.","id":"HP:6000229","name":"High-set nipples","obsolete":false,"parents":["HP:0004404"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of calveolin-3 in muscle tissue is below the lower limit of normal.","id":"HP:6000230","name":"Decreased muscle caveolin-3 level","obsolete":false,"parents":["HP:0034370"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased muscle caveolin-3 expression"}]} +{"alt_ids":[],"definition":"Concentration of an enyzme in a tissue is above or between the limit of normal. This term is intended to be used for enzymes that can be measured in multiple tissues other than blood.","id":"HP:6000231","name":"Abnormal tissue enzyme concentration or activity","obsolete":false,"parents":["HP:0034684"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal tissue enzyme activity"}]} +{"alt_ids":[],"definition":"Cell dealth (necrosis) located in the spleen.","id":"HP:6000232","name":"Splenic necrosis","obsolete":false,"parents":["HP:0025408"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A carcinoid tumor of the pancreas (CTP) is a rare neuroendocrine tumor arising from the serotonin-secreting cells (enterochromaffin or Kultscitsky's cells).","id":"HP:6000233","name":"Carcinoid tumor of the pancreas","obsolete":false,"parents":["HP:0002894"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of dihydroxyphenylacetic acid in the blood circulation is above the upper limit of normal.","id":"HP:6000234","name":"Elevated circulating dihydroxyphenylacetic acid concentration","obsolete":false,"parents":["HP:0033405"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating DOPAC concentration"}]} +{"alt_ids":[],"definition":"Lower than appropriate concentration of acetoacetate in states such as hypoglycemia in which the normal response would be to elevate acetoacetate.","id":"HP:6000235","name":"Inappropriately low concentration of acetoacetate","obsolete":false,"parents":["HP:0012337"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lower than appropriate concentration of beta-hydroxybutyrate in states such as hypoglycemia in which the normal response would be to elevate acetoacetate.","id":"HP:6000236","name":"Inappropriately low concentration of beta-hydroxybutyrate","obsolete":false,"parents":["HP:0012337"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of 3-hydroxybutyryl-carnitine in the blood circulation above the upper limit of normal.","id":"HP:6000237","name":"Elevated circulating 3-hydroxybutyryl-carnitine concentration","obsolete":false,"parents":["HP:0035016"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of 5-amino-4-imidazolecarboxyamide in the cerebrospinal fluid (CSF) is above the upper limit of normal.","id":"HP:6000238","name":"Elevated CSF 5-amino-4-imidazolecarboxyamide concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated CSF AICA-riboside concentration"}]} +{"alt_ids":[],"definition":"The concentration of tumor necrosis factor alpha in the blood circulation is above the upper limit of normal.","id":"HP:6000239","name":"Elevated circulating tumor necrosis factor alpha concentration","obsolete":false,"parents":["HP:0011112"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The activity of concentration of pyrimidine 5-prime-nucleotidase (EC 3.1.3.5) in the blood circulation is below the lower limit of normal.","id":"HP:6000240","name":"Reduced circulating pyrimidine 5-prime-nucleotidase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The increase in prolactin concentration (PRL) following stimulation with thyrotropin (thyrdoid releasing hormone) as compared to baseline PRL concentration is below the lower limit of normal.","id":"HP:6000241","name":"Diminished prolactin response to thyrotrophin-releasing hormone stimulation","obsolete":false,"parents":["HP:0033080"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of complement component 1s (C1s) in the blood circulation is below the lower limit of normal.","id":"HP:6000242","name":"Decreased circulating complement component 1s concentration","obsolete":false,"parents":["HP:0004431"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"C1s low in blood"}]} +{"alt_ids":[],"definition":"The concentration of corticosteroid-binding globulin in the blood circulation is below the lower limit of normal.","id":"HP:6000243","name":"Decreased circulating corticosteroid-binding globulin concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased corticosteroid-binding globulin concentration"},{"scope":"EXACT","text":"Decreased corticosteroid-binding globulin level"},{"scope":"EXACT","text":"Decreased corticosteroid-binding globulin level in blood"},{"scope":"EXACT","text":"Reduced circulating cortisol-binding globulin concentration"},{"scope":"EXACT","text":"Reduced corticosteroid-binding globulin concentration"},{"scope":"EXACT","text":"Reduced corticosteroid-binding globulin level"},{"scope":"EXACT","text":"Reduced corticosteroid-binding globulin level in blood"}]} +{"alt_ids":[],"definition":"The concentration of thyroglobulin in the blood circulation is below the lower limit of normal.","id":"HP:6000244","name":"Decreased circulating thyroglobulin concentration","obsolete":false,"parents":["HP:0025483"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased thyroglobulin concentration"},{"scope":"EXACT","text":"Decreased thyroglobulin level"},{"scope":"EXACT","text":"Decreased thyroglobulin level in blood"},{"scope":"EXACT","text":"Reduced thyroglobulin concentration"},{"scope":"EXACT","text":"Reduced thyroglobulin level"},{"scope":"EXACT","text":"Reduced thyroglobulin level in blood"}]} +{"alt_ids":[],"definition":"The concentration of granulocyte-macrophage colony-stimulating factor in the blood circulation is above the upper limit of normal.","id":"HP:6000245","name":"Elevated circulating granulocyte-macrophage colony-stimulating factor concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating GM-CSF concentration"},{"scope":"EXACT","text":"Elevated granulocyte-macrophage colony-stimulating factor concentration"},{"scope":"EXACT","text":"Elevated granulocyte-macrophage colony-stimulating factor level"},{"scope":"EXACT","text":"Elevated granulocyte-macrophage colony-stimulating factor level in blood"},{"scope":"EXACT","text":"GMCSF high in blood"},{"scope":"EXACT","text":"Increased granulocyte-macrophage colony-stimulating factor concentration"},{"scope":"EXACT","text":"Increased granulocyte-macrophage colony-stimulating factor level"},{"scope":"EXACT","text":"Increased granulocyte-macrophage colony-stimulating factor level in blood"}]} +{"alt_ids":[],"definition":"The concentration of D-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.","id":"HP:6000246","name":"Elevated CSF D-2-hydroxyglutaric acid concentration","obsolete":false,"parents":["HP:0500183"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A swelling or enlargement localized to the esophagus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.","id":"HP:6000247","name":"Esophageal mass","obsolete":false,"parents":["HP:0002031"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:6001156"],"definition":"The presence of crystals (microscopic solids that form distinct lattices, with definable fixed angles, faces, walls) in the bursa fluid.","id":"HP:6000248","name":"Bursa fluid crystals","obsolete":false,"parents":["HP:0025231"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bursa aspiration: crystals present"},{"scope":"EXACT","text":"Crystals in bursa fluid"}]} +{"alt_ids":[],"definition":"Giant gastric folds are recognized at endoscopy as an increase in the size of the gastric rugae and a lack of flattening.","id":"HP:6000249","name":"Enlarged gastric folds","obsolete":false,"parents":["HP:0002577"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Giant gastric folds"}]} +{"alt_ids":[],"definition":"The count of lymphocytes located in the epithelial layer of the gastric mucosa is above the upper limit of normal.","id":"HP:6000250","name":"Gastric intraepithelial lymphocytosis","obsolete":false,"parents":["HP:0004295"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The count of lymphocytes located in the epithelial layer of the mucosa of the small intestine is above the upper limit of normal.","id":"HP:6000251","name":"Small intestinal intraepithelial lymphocytosis","obsolete":false,"parents":["HP:0025129"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased response (echo) of lung tissue of a fetus observed on prenatal sonography. Increased echo response is conventially displayed as a higher degree of brightness.","id":"HP:6000252","name":"Fetal lung hyperechogenicity","obsolete":false,"parents":["HP:0034243"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A histopathological finding characterized by inflammation of the arterial and/or capillary and/or venous blood vessels, leading to a change in the vascular wall as a whole.","id":"HP:6000253","name":"Necrotizing vasculitis","obsolete":false,"parents":["HP:0034785"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural anomaly of the proximal convoluted tubule, which is the first tubular component of the nephron and arises as a continuation of the Bowman space from the tubular pole of the renal corpuscle. The proximal convoluted tubule is located within the renal cortex.","id":"HP:6000254","name":"Abnormal proximal convoluted tubule morphology","obsolete":false,"parents":["HP:0000091"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of Leishmania, a parasitic protozoan, in a tissue specimen. Leishmania is responsible for leishmaniasis.","id":"HP:6000255","name":"Demonstration of Leishmania in tissue","obsolete":false,"parents":["HP:0430030"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Demonstration of cysts of Pneumocystis (a genus of related fungal species) in respiratory secretions such as nasopharyngeal secretions or pleural fluid.","id":"HP:6000256","name":"Pneumocystis cysts in respiratory secretions","obsolete":false,"parents":["HP:0430107"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An aggregation of macrophages (forming in response to chronic inflammation) localized in or on the spinal cord.","id":"HP:6000257","name":"Spinal cord granuloma","obsolete":false,"parents":["HP:0002143"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced ability to absorb folate in the diet. This finding can be measured by a folic acid loading test in which blood concentration of folate is measured after oral administration of folic acid.","id":"HP:6000258","name":"Impaired folate absorption","obsolete":false,"parents":["HP:0100508"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally elevated quantiy of hydrogen measured by a hydrogen breath test (HBT). HBTs administer substrates such as glucose, lactulose, lactose and fructose and subsequently measure hydrogen exhaled in the breath using a gas chromatograph.","id":"HP:6000259","name":"Positive hydrogen breath test","obsolete":false,"parents":["HP:0012719"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive glucose hydrogen breath test"},{"scope":"EXACT","text":"Positive glucose or lactulose hydrogen breath test"},{"scope":"EXACT","text":"Positive lactulose hydrogen breath test"}]} +{"alt_ids":[],"definition":"A history of a plant skin puncture preceding the current presenting condition by hours, days, or weeks.","id":"HP:6000260","name":"History of recent plant thorn skin puncture","obsolete":false,"parents":["HP:4000144"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Nondetectable kappa chain in the blood circulation.","id":"HP:6000261","name":"Absent circulating kappa chain-bearing immunoglobulin","obsolete":false,"parents":["HP:0010701"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A circumscribed whitish-yellow mass in the posterior chamber associated with retinal folds and sometimes retinal detachment and is said to resemble a retinal glioma.","id":"HP:6000262","name":"Pseudoglioma","obsolete":false,"parents":["HP:0004327"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Swelling due to fluid acculuation of the papillary dermis.","id":"HP:6000263","name":"Papillary dermal edema","obsolete":false,"parents":["HP:0034924"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The number of beats per minute (bpm) of the fetal heart is above the upper limit of the normal for the gestational age. Fetal tachycardia is thus defined as a heart rate greater than 160-180 bpm.","id":"HP:6000264","name":"Fetal tachycardia","obsolete":false,"parents":["HP:0001649","HP:0034190"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of 3-hydroxykynurenine in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000265","name":"Elevated urinary 3-hydroxykynurenine level","obsolete":false,"parents":["HP:0033098"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of 2-oxoadipic acid in the urine, normaliyed for urine concentration, is above the upper limit of normal.","id":"HP:6000266","name":"2-oxoadipic aciduria","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Alpha-oxoadipic acid high in urine"}]} +{"alt_ids":[],"definition":"The concentration of methionine sulfoxide in the blood circulation is above the upper limit of normal.","id":"HP:6000267","name":"Elevated circulating methionine sulfoxide concentration","obsolete":false,"parents":["HP:0033108"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of pipecolic acid in the blood circulation is above the upper limit of normal.","id":"HP:6000268","name":"Elevated circulating pipecolic acid concentration","obsolete":false,"parents":["HP:0010996"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperpipecolatemia"},{"scope":"EXACT","text":"Pipecolic acid high in blood"}]} +{"alt_ids":[],"definition":"The amount of pipecolic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000269","name":"Elevated urinary pipecolic acid level","obsolete":false,"parents":["HP:0033303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of saccharopine in the cerebrospinal fluid (CSF) above the upper limit of normal.","id":"HP:6000270","name":"Elevated CSF saccharopine concentration","obsolete":false,"parents":["HP:0500184"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Saccharopine present in CSF"}]} +{"alt_ids":[],"definition":"Concentration in the bloodstream of glycylproline above the upper limit of normal. Glycylproline is a dipeptide composed of glycine and proline, and is an end product of collagen metabolism that is further cleaved by prolidase (EC 3.4.13.9).","id":"HP:6000271","name":"Elevated circulating glycylproline concentration","obsolete":false,"parents":["HP:0033386"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of octanoylcarnitine (C8:0) in the blood circulation is above the upper limit of normal.","id":"HP:6000272","name":"Elevated circulating octanoylcarnitine concentration","obsolete":false,"parents":["HP:0035017"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating C8:0 acylcarnitine concentration"},{"scope":"EXACT","text":"Elevated circulating O-octanoylcarnitine concentration"},{"scope":"EXACT","text":"Elevated octanoylcarnitine concentration"},{"scope":"EXACT","text":"Elevated octanoylcarnitine level"},{"scope":"EXACT","text":"Elevated octanoylcarnitine level in blood"},{"scope":"EXACT","text":"Increased octanoylcarnitine concentration"},{"scope":"EXACT","text":"Increased octanoylcarnitine level"},{"scope":"EXACT","text":"Increased octanoylcarnitine level in blood"}]} +{"alt_ids":[],"definition":"The concentration of decanoylcarnitine (C10:0) in the blood circulation is above the upper limit of normal.","id":"HP:6000273","name":"Elevated circulating decanoylcarnitine concentration","obsolete":false,"parents":["HP:0035017"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"C10: decanoylcarnitine high in blood"},{"scope":"EXACT","text":"Elevated circulating C10:0 acylcarnitine concentration"},{"scope":"EXACT","text":"Elevated circulating o-decanoylcarnitine concentration"},{"scope":"EXACT","text":"Elevated decanoylcarnitine concentration"},{"scope":"EXACT","text":"Elevated decanoylcarnitine level"},{"scope":"EXACT","text":"Elevated decanoylcarnitine level in blood"},{"scope":"EXACT","text":"Increased decanoylcarnitine concentration"},{"scope":"EXACT","text":"Increased decanoylcarnitine level"},{"scope":"EXACT","text":"Increased decanoylcarnitine level in blood"}]} +{"alt_ids":[],"definition":"Increased concentration of 2-hydroxyphenylacetic acid in the urine.","id":"HP:6000274","name":"2--hydroxyphenylacetic aciduria","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Amount of 4-hydroxyphenyllactic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000275","name":"4-hydroxyphenyllactic aciduria","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:6000276","name":"obsolete Elevated urinary beta-alanine level","obsolete":true,"parents":[],"replaced_by":["HP:0020079"],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of beta-alanine present in the cerebrospinal fluid (CSF) is above the upper limit of normal.","id":"HP:6000277","name":"Elevated CSF beta-alanine concentration","obsolete":false,"parents":["HP:0500184"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of 2-aminoadipic acid in the blood circulation is above the upper limit of normal.","id":"HP:6000278","name":"Elevated circulating 2-aminoadipic acid concentration","obsolete":false,"parents":["HP:0010995"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of N-carbamoyl-beta-alanine present in urine, when adjusted for urine concentration, is above the upper limit of normal.","id":"HP:6000279","name":"Elevated urinary N-carbamoyl-beta-alanine level","obsolete":false,"parents":["HP:0033098"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of cystathionine in the cerebrospinal fluid (CSF) above the upper limit of normal.","id":"HP:6000280","name":"Elevated CSF cystathionine concentration","obsolete":false,"parents":["HP:0500184"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of gamma-glutamylphenylalanine in the urine, when normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000281","name":"Elevated urinary gamma-glutamylphenylalanine level","obsolete":false,"parents":["HP:0033098"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of aspartylglucosamine in the blood circulation above the upper limit of normal.","id":"HP:6000282","name":"Elevated circulating aspartylglucosamine concentration","obsolete":false,"parents":["HP:0033109"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aspartylglucosamine high in blood"}]} +{"alt_ids":["HP:0034028"],"definition":"The amount of saccharopine in the urine, when normalized to urine concentration, is above the upper limit of normal.","id":"HP:6000283","name":"Elevated urinary saccharopine level","obsolete":false,"parents":["HP:0033098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Saccharopinuria"}]} +{"alt_ids":[],"definition":"Abnormal increase in size of the tectal plate (also known as the tectum or the quadrigeminal plate). The tectum is the dorsal portion of the midbrain (brainstem).","id":"HP:6000284","name":"Tectal plate enlargement","obsolete":false,"parents":["HP:0002363"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Quadrigeminal plate enlargement"},{"scope":"EXACT","text":"Tectal enlargement"}]} +{"alt_ids":[],"definition":"A swelling or enlargement localized to the retroperitoneal region. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.","id":"HP:6000285","name":"Retroperitoneal mass","obsolete":false,"parents":["HP:0002012"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A lighter than expected T1 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem.","id":"HP:6000286","name":"Focal T1 hyperintense brainstem lesion","obsolete":false,"parents":["HP:0012747"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of fracture that occurs in the trabecular cancellous bone just beneath the subchondral bone plate without disruption of the articular surface.","id":"HP:6000287","name":"Subchondral fracture","obsolete":false,"parents":["HP:4000042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abscess (i.e., a circumscribed area of pus or necrotic debris) localized in the area surrounded by the deep fascia of the neck including the pharynx, larynx, trachea, upper esophagus, thyroid, and parathyroid glands. Infections of pharyngeal, tonsillar, and laryngeal origin affect this space, which includes the parapharyngeal and retropharyngeal spaces.","id":"HP:6000288","name":"Deep neck abscess","obsolete":false,"parents":["HP:0025615"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anlarged and edematous epiglottis. This sign can be observed on a lateral radiograph of the neck and it suggests a diagnosis of acute infectious epiglottitis.","id":"HP:6000289","name":"Epiglottic enlargement","obsolete":false,"parents":["HP:0005483"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Epiglottis thumb sign"},{"scope":"EXACT","text":"Swollen epiglottis"}]} +{"alt_ids":[],"definition":"Increase in the anterior posterior dimension of the prevertebral space, which is located in the neck region between the anterior part of the cervical spine and the deep layer of the deep cervical fascia running between the transverse processes of the spine.","id":"HP:6000290","name":"Prevertebral space enlargement","obsolete":false,"parents":["HP:0033151"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased pre-vertebral space"}]} +{"alt_ids":[],"definition":"Increase in diameter of the third cranial nerve (oculomotor nerve). This feature can be observed by magnetic resonance imaging and may be accompanied by contrast enhancement.","id":"HP:6000291","name":"Third cranial nerve thickening","obsolete":false,"parents":["HP:0025735"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Oculomotor nerve thickening"}]} +{"alt_ids":[],"definition":"Concentration of sphoingomyelin in tissues above the upper limit of normal.","id":"HP:6000292","name":"Elevated tissue sphingomyelin concentration","obsolete":false,"parents":["HP:0034370"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Medical history of recent iodinated or radioiodine contrast use.","id":"HP:6000293","name":"History of recent iodated contrast medium administration","obsolete":false,"parents":["HP:4000144"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Difficulty inserting a nasogastric tube (NGT), a flexible plastic tube that is placed through the nose and esophagus into the stomach and used to administer drugs or for feeding. There are certain circumstances that may make NGT insertion difficult. They are esophageal narrowing, comatose or intubated patients, and patients who have sustained severe facial or skull injuries.","id":"HP:6000294","name":"Difficulty passing nasogastric tube","obsolete":false,"parents":["HP:0430103"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A falcine sinus that does not involute but persists beyond birth is defined as a persistent falcine sinus. In the 20-mm embryo stage, the primitive falx cerebri contains the sagittal plexus, a meshwork of anastomotic venous channels from which the superior sagittal sinus and straight sinus are thought to develop. A persistent falcine sinus represents a persistent channel of the caudal anastomotic loops of the sagittal plexus.","id":"HP:6000295","name":"Persistent falcine venous sinus","obsolete":false,"parents":["HP:0033723"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A medical history in a male of not having been circumcized.","id":"HP:6000296","name":"Penis uncircumcised","obsolete":false,"parents":["HP:0430103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foreskin present"},{"scope":"EXACT","text":"Prepuce present"}]} +{"alt_ids":[],"definition":"A medical history of use of facial makeup.","id":"HP:6000297","name":"History of facial cosmetic use","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Use of makeup on face"}]} +{"alt_ids":[],"definition":"A feeling of clicking or snapping at the knuckle (metacarpophalangeal joint) upon extension of flexion of the finger.","id":"HP:6000298","name":"Snapping sensation at metacarpophalangeal joint","obsolete":false,"parents":["HP:0034430"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the forearm.","id":"HP:6000299","name":"Forearm pain","obsolete":false,"parents":["HP:0012531"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of displaced fracture in which there has been a rotation of the distal fracture fragment in relation to the proximal portion.","id":"HP:6000300","name":"Rotational fracture","obsolete":false,"parents":["HP:4000042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality that is situated on the skin in areas where bones are close to the surface (bony prominences).","id":"HP:6000301","name":"Localized over bony prominences","obsolete":false,"parents":["HP:0012838"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A past medical history of wearing tight shoes, toe-box shoes, or high heel shoes.","id":"HP:6000302","name":"History of compressive footwear","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced skin turgor means reduced elastic recoil of the skin to its normal contour after being pinched in a fold.","id":"HP:6000303","name":"Decreased skin turgor","obsolete":false,"parents":["HP:0011121"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Medical history of recently eating wild mushrooms.","id":"HP:6000304","name":"Recent foraged mushroom consumption","obsolete":false,"parents":["HP:4000144"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Refers to symptomatology that begins in the proximal limbs and subsequently affects the distal limbs.","id":"HP:6000305","name":"Proximal to distal progression","obsolete":false,"parents":["HP:0011008"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The selective paralysis of voluntary fascio-pharyngo-glosso-masticatory movements with preservation of reflexive and automatic functions is referred to as autonomic-voluntary dissociation, which is a distinctive feature of Anterior opercular syndrome (also known as Foix-Chavany-Marie syndrome).","id":"HP:6000306","name":"Autonomic-voluntary dissociation of facial movements","obsolete":false,"parents":["HP:0012638"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A swelling or enlargement localized to the jaw. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.","id":"HP:6000307","name":"Jaw mass","obsolete":false,"parents":["HP:0030791"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Exposure to continuous light at night, including night-shift work or a nocturnal lifestyle.","id":"HP:6000308","name":"Excessive nocturnal light exposure","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Past medical history of a woman who is menstruating, i.e., not premenstrual or post-menopause.","id":"HP:6000309","name":"Menstruating female between menarche and menopause","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"PPROM (preterm premature rupture of membranes) occurs at less than 37 weeks of gestation. PPROM can happen spontaneously, during preterm labor, or following a procedure such as amniocentesis.","id":"HP:6000310","name":"Preterm premature rupture of membranes","obsolete":false,"parents":["HP:0001788"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"PPROM"}]} +{"alt_ids":[],"definition":"A past medical history that indicates that the patient had a surgical procedure involving the abdomen.","id":"HP:6000311","name":"History of abdominal surgery","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The thickness of the Descement membrane is above the upper limit of normal.","id":"HP:6000312","name":"Thickened Descemet membrane","obsolete":false,"parents":["HP:0011490"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thick Descemet membrane"}]} +{"alt_ids":[],"definition":"Right bundle branch block (RBBB) represents an abnormality in the intraventricular electrical conduction system of the human heart, generating enlarged QRS and modified vectors on the electrocardiogram (ECG). Incomplete RBBB (IRBBB) is defined by (i) QRS duration between 110 and 120 ms in adults; (ii) rsr, rsR, or rSR in leads V1 or V2. The R or r deflection is usually wider than the initial R wave. In a minority of patients, a wide and often notched R wave pattern may be seen in leads V1 and/or V2; (iii) S wave of greater duration than R wave or greater than 40 ms in leads I and V6 in adults; and (iv) Normal R peak time in leads V5 and V6 but greater than 50 ms in lead V1. The first 3 criteria should be present to make the diagnosis. When a pure dominant R wave with or without a notch is present in V1, criterion 4 should be satisfied.","id":"HP:6000313","name":"Incomplete right bundle branch block","obsolete":false,"parents":["HP:0011710"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Onset of signs or symptoms of disease during the period of a woman's life shortly before the occurrence of the menopause.","id":"HP:6000314","name":"Perimenopausal onset","obsolete":false,"parents":["HP:0003674"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Onset of signs or symptoms of disease during the period of a woman's life after the occurrence of the menopause.","id":"HP:6000315","name":"Postmenopausal onset","obsolete":false,"parents":["HP:0003674"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Spastic weakness found in only one upper or lower extremity.","id":"HP:6000316","name":"Spastic monoplegia","obsolete":false,"parents":["HP:0034353"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Mosaic attenuation pattern in the lung is a term used to describe regions of differing pulmonary attenuation on CT imaging. It is a non-specific finding, although is associated with several conditions such as obstructive small airway disease, occlusive vascular disease (in which case is called mosaic perfusion pattern), pulmonary edema, and parenchymal diseases.","id":"HP:6000317","name":"Mosaic attenuation pattern in lung","obsolete":false,"parents":["HP:0031983"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The ratio of aldosterone concentration to renin concentration is above the upper limit of normal. If aldosterone is expressed in ng/dl and plasma renin activity is expressed as ng/ml/hr, then values above 20 with aldosterone level above 15 are considered indicative of primary aldosteronism.","id":"HP:6000318","name":"Elevated aldosterone:renin ratio","obsolete":false,"parents":["HP:0000847"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in the gas content inside the bowel associated with distension of the abdomen and hydroaeric noises. The most common symptom of meteorism is a bloated sensation. It may be associated with abdominal discomfort. Some individuals may also complain of a distended stomach and excessive belching and/or passage of flatus.","id":"HP:6000319","name":"Meteorism","obsolete":false,"parents":["HP:0011458"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Normal subjects display an increase in the concentration of ammonia in the blood following an ischemic exercise test. This term refers to an increase in ammonia that is below the lower limit of normal.","id":"HP:6000320","name":"Failure to elevate ammonia on ischemic exercise","obsolete":false,"parents":["HP:0011025"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Frequent fluctuations of blood pressure between normal and high levels, changing more dramatically than normal.","id":"HP:6000321","name":"Labile Hypertension","obsolete":false,"parents":["HP:0000822"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The axon reflex (also known as the flare response) is a response that is stimulated by peripheral nerves of the body that travels away from the nerve cell body and branches to stimulate target organs. In the human skin, there are three different phenomena mediated by axon reflex mechanism; flare, sweating and pilomotion. Stroking or intradermal injection of histamine or substance P into the human skin pro- duces widespread vasodilatation (flare) and plasma extravasation (wheal). This term refers to the failure of intradermal hista injection to elicit flare.","id":"HP:6000322","name":"Absent axon flare response after intradermal histamine injection","obsolete":false,"parents":["HP:0032120"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Response to the cold pressor test below the lower limit of normal. The cold pressor test is a simple and validated test in which the subject immerses one hand or foot into ice water for 1 to 3 minutes while blood pressure (BP) and heart rate are monitored. The cold stimulus activates afferent sensory pathways that, in turn, trigger a sympathetic response resulting in an increase in BP.","id":"HP:6000323","name":"Reduced sympathoneural responses to the cold pressor test","obsolete":false,"parents":["HP:0012332"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fecal analysis for Giardia antigen is abnormal. Tests include direct fluorescent-antibody (DFA), which detects intact organisms, and enzyme immunoassays (EIAs), which detect soluble stool antigens.","id":"HP:6000324","name":"Positive stool Giardia antigen test","obsolete":false,"parents":["HP:0034866"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Loss of a substantial amount of blood during delivery (some definitions stipulate 1000 ml or more), typically associated with manifestations such as low blood pressure, a rapid heart rate, dizziness, light-headedness, fatigue, and weakness.","id":"HP:6000325","name":"Excessive blood loss during delivery","obsolete":false,"parents":["HP:0032467"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Endocarditis infection occurs along the edges of the heart valves. Damage to the cardiac endothelium followed by platelet and fibrin deposition results in a sterile lesion known as nonbacterial thrombotic endocarditis (NBTE) or vegetation. Microbes entering the bloodstream via routine or invasive procedures adhere to the vegetation and are engulfed in an outer meshwork of fibrin and platelets. Subsequent rapid microbial multiplication in a protected area of impaired host defense leads to vegetation growth and continuous bacteremia.","id":"HP:6000326","name":"Cardiac valve vegetations","obsolete":false,"parents":["HP:0001654"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The anteroposterior dimension of the chest on the lateral radiograph is often relatively narrow compared with the chest width on the frontal radiograph.","id":"HP:6000327","name":"Thoracic cage flatness","obsolete":false,"parents":["HP:0001547"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Flat chest"}]} +{"alt_ids":[],"definition":"Lack of the oocyte extracellular matrix region (zona pellucida). This feature can be observed following follicular aspiration (retrieval of eggs for fertility treatments).","id":"HP:6000328","name":"Absent zona pellucida","obsolete":false,"parents":["HP:0020156"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of the umbilical cord (UC) between the fetal presenting part and the cervix, regardless of the membrane status (intact or ruptured). Descent of the UC through the cervix is essential for diagnosing cord prolapse. It can be either overt (past the presenting part) or occult (alongside the presenting part).","id":"HP:6000329","name":"Umbilical cord prolapse","obsolete":false,"parents":["HP:0010881"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The relative concentration of deoxypyridinoline (Dpyr) to that of pyridinoline (Pyr) cross-links in urine is above the upper limit of normal.","id":"HP:6000330","name":"Increased ratio of deoxypyridinoline to pyridinoline cross-links in urine","obsolete":false,"parents":["HP:0033384"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of thymine in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000331","name":"Elevated urinary thymine level","obsolete":false,"parents":["HP:0033162"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of indoleacetic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000332","name":"Elevated urinary indoleacetic acid level","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of phosphorylase kinase in liver tissue below the lower limit of normal. Phosphorylase kinase (PhK) has a major regulatory role in the breakdown of glycogen. The enzyme PhK comprises four copies each of four subunits, encoded by PHKA1, PHKA2, PHKB, and PHKG.","id":"HP:6000333","name":"Reduced hepatic phosphorylase kinase activity","obsolete":false,"parents":["HP:0034685"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased hepatic phosphorylase kinase activity"}]} +{"alt_ids":[],"definition":"Activity or concentration of ornithine transcarbamylase in the liver below the lower limit of normal.","id":"HP:6000334","name":"Reduced hepatic ornithine transcarbamylase activity","obsolete":false,"parents":["HP:0034685"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of quinolinic acid in the urine, normalized for urine concentration, is above the upper limit of normal. Quinolinic acids is a pyridinedicarboxylic acid that is pyridine substituted by carboxy groups at positions 2 and 3. It is a metabolite of tryptophan.","id":"HP:6000335","name":"Elevated urinary quinolinic acid level","obsolete":false,"parents":["HP:0033162"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental anomaly characterized by an additional rectum that is typically lined with intestinal mucosa with one or more cell types of the gastrointestinal tract overlying submucosa and smooth muscle layer.","id":"HP:6000336","name":"Rectal duplication","obsolete":false,"parents":["HP:0002034"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abrnormal reduction in the height of the mucosa of the small intestine. The mucosa is arranged in regular circular folds (the circular valves of Kerckrin), the mucosal surface is covered with small projections called villi, which are slender, about 1.5-2 mm long projections of the mucosa into the lumen. In between the villi are the crypts. This term refers to a pathological thinning of these structures.","id":"HP:6000337","name":"Thinned small intestinal mucosa","obsolete":false,"parents":["HP:0025129"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital anomaly characterized by underdevelopment of one or both seminal vesicles, which are the two small glands that store and produce the majority of the fluid that makes up semen.","id":"HP:6000338","name":"Seminal vesicle hypoplasia","obsolete":false,"parents":["HP:6000190"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The distance around the abdomen of a fetus, generally as measured by prenatal sonography, is below the lower limit of normal.","id":"HP:6000339","name":"Decreased fetal abdominal circumference","obsolete":false,"parents":["HP:0020303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Small fetal abdominal circumference"}]} +{"alt_ids":[],"definition":"The diaphragm normally projects up into the thoracic cavity. In the presence of malformations such as enlarged lungs, the diaphragm may appear abnormally flat or even everted (with the middle of the diaphragm projecting downwards into the abdominal cavity).","id":"HP:6000340","name":"Prenatal flattened diaphragm","obsolete":false,"parents":["HP:0034243"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Dense floating particles in amniotic fluid, said to resemble snowflakes. This finding can result from shedding of the epidermis in conditions such as Harlequin ichthyosis.","id":"HP:6000341","name":"Snowflake effect in amniotic cavity","obsolete":false,"parents":["HP:0001560"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Snowflake sign"}]} +{"alt_ids":[],"definition":"An abnormally increased thickness of a leaflet of the mitral valve.","id":"HP:6000342","name":"Thickened mitral valve cusp","obsolete":false,"parents":["HP:0031480"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against parietal cell antigens.","id":"HP:6000343","name":"Antiparietal cell antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against intrinsic factor.","id":"HP:6000344","name":"Anti-intrinsic factor antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of the human immunodeficiency virus (HIV).","id":"HP:6000345","name":"Anti-human immunodeficiency virus antibody positivity","obsolete":false,"parents":["HP:0430059"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-HIV antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of poliovirus.","id":"HP:6000346","name":"Anti-polio virus antibody positivity","obsolete":false,"parents":["HP:0430059"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the N-Methyl-D-aspartate (NMDA) receptor NR2A subunit.","id":"HP:6000347","name":"Anti-NR2A antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against streptolysin O.","id":"HP:6000348","name":"Antistreptolysin O antibody positivity","obsolete":false,"parents":["HP:0430061"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase; EC 2.1.2.3) a in a tissue is below the lower limit of normal.","id":"HP:6000349","name":"Reduced tissue tissue AICAR transformylase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by treatment with an agent that reduces gastric acidity such as proton pump inhibitors, histamine receptor blockers,omeprazole, esomeprazole, dexlansoprazole, pantoprazole, lansoprazole, famotidine, or ranitidine.","id":"HP:6000350","name":"Ameliorated by gastric acid-reducing therapy","obsolete":false,"parents":["HP:0034536"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of an antibody in the blood circulation that is directed against a coagulation factor.","id":"HP:6000351","name":"Anti-coagulation factor antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excessively rapid eating of food.","id":"HP:6000352","name":"Tachyphagia","obsolete":false,"parents":["HP:0100738"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of argininosuccinate synthetase (EC 6.3.4.5) in body tissues is below the lower limit of normal. Clinically, argininosuccinate synthetase is measured in the liver or in cultered skin fibroblasts.","id":"HP:6000353","name":"Reduced tissue argininosuccinate synthetase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced argininosuccinate synthetase activity in cultured fibroblasts"},{"scope":"EXACT","text":"Reduced hepatic argininosuccinate synthetase activity"}]} +{"alt_ids":[],"definition":"Activity of aspartoacylase below the lower limit of normal in cultured fibroblasts. Aspartoacylase (EC 3.5.1.15), also called aminoacylase-2, is an enzyme that hydrolyzes N-acetyl-L-aspartic acid (NAA) to aspartate and acetate.","id":"HP:6000354","name":"Reduced aspartoacylase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of malonyl-CoA decarboxylase (EC 4.1.1.9) below the lower limit of normal in cultured fibroblasts.","id":"HP:6000355","name":"Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of medium-chain acyl-CoA dehydrogenase (EC 1.3.8.7;MCAD) in tissues is below the lower limit of normal.","id":"HP:6000356","name":"Reduced tissue medium-chain acyl-CoA dehydrogenase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced MCAD activity in cultured fibroblasts"},{"scope":"EXACT","text":"Reduced medium-chain acyl-CoA dehydrogenase activity in cultured fibroblasts"}]} +{"alt_ids":[],"definition":"Activity of cystathionine beta-synthase (EC 4.2.1.22) below the lower limit of normal in cultured fibroblasts.","id":"HP:6000357","name":"Reduced cystathionine beta-synthase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of the enzyme glycogen phosphorylase in muscle tissue is below the lower limit of normal. Glycogen phosphorylase (EC 2.4.1.1) is also known as amylophosphorylase, muscle phosphorylase a and b, polyphosphorylase, and myophosphorylase.","id":"HP:6000358","name":"Reduced muscle glycogen phosphorylase activity","obsolete":false,"parents":["HP:0034526"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of the enzyme 6-phosphofructokinase in muscle tissue is below the lower limit of normal. 6-phosphofructokinase (EC 2.7.1.11) is also known as phosphofructokinase I and phosphohexokinase. The PFKM gene encodes the muscle isoform of phosphofructokinase. PFK catalyzes the irreversible conversion of fructose-6-phosphate to fructose-1,6-bisphosphate and is a key regulatory enzyme in glycolysis.","id":"HP:6000359","name":"Reduced muscle 6-phosphofructokinase activity","obsolete":false,"parents":["HP:0034526"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of alpha-N-acetylglucosaminidase (EC 3.2.1.50) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. It is also known as alpha-acetylglucosaminidase, N-acetyl-alpha-D-glucosaminidase, N-acetyl-alpha-glucosaminidase, and alpha-D-2-acetamido-2-deoxyglucosidase.","id":"HP:6000360","name":"Reduced tissue alpha-N-acetylglucosaminidase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of succinyl-CoA:3-oxoacid-CoA transferase (SCOT, or OXCT1; EC 2.8.3.5) below the lower limit of normal in cultured fibroblasts.","id":"HP:6000361","name":"Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A non-suppressible aldosterone excess, defined as an abnormal result of one of any four suppression tests. These tests use oral sodium loading, oral fludrocortisone, oral captopril, or saline infusion to suppress aldosterone secretion.","id":"HP:6000362","name":"Blunted aldosterone response to aldosterone suppression test","obsolete":false,"parents":["HP:0031073"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal enlargement or swelling in the flank, which is the fleshy part of the side of the body between the ribs and the hip.","id":"HP:6000363","name":"Flank mass","obsolete":false,"parents":["HP:0001438"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A fluid-filled sac or pouch-like mass that is a distention of a preexisting bursa in a joint, tendon sheaths or bursae. Synovial cysts contain synovial fluid and are lined by synovial membrane.","id":"HP:6000364","name":"Synovial cyst","obsolete":false,"parents":["HP:0025850"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deposition of brown pigmentation in the conjunctiva.","id":"HP:6000365","name":"Brown pigmentation of the conjunctiva","obsolete":false,"parents":["HP:0000502"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Limitation of simultaneous ankle dorsiflexion and knee extension during mid-stance of gait.","id":"HP:6000366","name":"Gastrocnemius contracture","obsolete":false,"parents":["HP:0005750"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced thickness of the outer nuclear layer in the middle region of the retina. The outer nuclear layer (ONL) of the retina contains the nuclei of the cone and rod photoreceptors. Loss of the cellular machinery found in these nuclei causes irreparable loss of the photoreceptors and the capacity for visual function. This feature can be appreciated by directional optical coherence tomography.","id":"HP:6000367","name":"Central thinning of the outer nuclear layer of the retina","obsolete":false,"parents":["HP:0030329"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Central thinning of the ONL"}]} +{"alt_ids":[],"definition":"Heterogeneous, increased parenchymal echogenicity. This imaging appearance is caused by multiple tiny cysts smaller than or just approaching the size necessary for detection, which disrupt the echo pattern without being clearly distinguishable, and appear as white grains on renal ultrasound, mainly in a subcapsular location.","id":"HP:6000368","name":"Sonographic renal salt and pepper pattern","obsolete":false,"parents":["HP:0033130"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of ductus venosus agenesis in which the umbilical vein connects via the portal sinus to the portal venous system (PVS) without giving rise to the ductus venosus. In some cases an intrahepatic shunt from a portal to a hepatic vein can be detected prenatally. This variant has been reported to have a favorable prognosis.","id":"HP:6000369","name":"Ductus venosus agenesis with intrahepatic drainage","obsolete":false,"parents":["HP:0034196"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of ductus venosus agenesis in which umbilical vein does not connect to the portal venous system. The liver is bypassed and the umbilical vein drains into a systemic vein such as the inferior vena cava. This variant has been reported to have an unfavorable prognosis due to a presumed association with congestive heart failure and hydrops.","id":"HP:6000370","name":"Ductus venosus agenesis with extrahepatic drainage and liver bypass","obsolete":false,"parents":["HP:0034196"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of D-gyceric acid in the blood circulation is above the upper limit of normal.","id":"HP:6000371","name":"Elevated circulating D-glyceric acid concentration","obsolete":false,"parents":["HP:0004354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of D-carboxylic acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.","id":"HP:6000372","name":"Elevated CSF D-glyceric acid concentration","obsolete":false,"parents":["HP:0500183"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"D-glyceric acid high in CSF"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is improved or made more bearable by ingestion of riboflavin (Vitamin B2).","id":"HP:6000373","name":"Ameliorated by riboflavin","obsolete":false,"parents":["HP:0025254"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increased concentration of interleukin-1beta in the blood circulation.","id":"HP:6000374","name":"Increased circulating interleukin 1beta concentration","obsolete":false,"parents":["HP:0011117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of myeloperoxidase (EC 1.11.1.7) as measured in neutrophils is below the limits of normal.","id":"HP:6000375","name":"Reduced neutrophil myeloperoxidase activity","obsolete":false,"parents":["HP:0034858"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduction in diameter of the jugular foramen, an opening in the base of the skull that is located behind the carotid canal and is formed by the temporal bone and the occipital bone. The inferior petrosal sinus, three cranial nerves, the sigmoid sinus, and meningeal arteries pass through the jugular foramen.","id":"HP:6000376","name":"Jugular foramen stenosis","obsolete":false,"parents":["HP:0002693"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of extraluminal gas within the bowel wall.","id":"HP:6000377","name":"Intramural intestinal gas","obsolete":false,"parents":["HP:0002242"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pneumatosis intestinalis"}]} +{"alt_ids":[],"definition":"Hepatobiliary scintigraphy is a nuclear imaging technique that permits evaluation of the liver and biliary system for acute and chronic cholecystitis, biliary atresia, biliary obstruction, and post-surgical biliary leak. With this investigation, a radiotracer is administered intravenously, bound to albumin, transported to the liver, and excreted into the biliary system. This term refers to a longer than normal time for the radiotracer to be visualized in the gallbladder. This finding may be a sign of chronic gallbladder disease or partial obstruction of the common bile duct.","id":"HP:6000378","name":"Delayed scintigraphic gallbladder filling","obsolete":false,"parents":["HP:0012438"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pancreatic arteriovenous malformation is defined as an abnormal vascular net, developed from one or more feeding arteries and enlarged early draining veins, creating an arteriovenous shunting.","id":"HP:6000379","name":"Pancreatic arteriovenous malformation","obsolete":false,"parents":["HP:0012090"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the serum that react against perilipin-1 (PLIN1).","id":"HP:6000380","name":"Anti-perilipin-1 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Calcification, that is, pathological deposition of calcium salts in the spleen.","id":"HP:6000381","name":"Splenic calcification","obsolete":false,"parents":["HP:0025408"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal reduction in the length of the esophagus.","id":"HP:6000382","name":"Short esophagus","obsolete":false,"parents":["HP:0002031"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A full-thickness injury of the wall of the stomach.","id":"HP:6000383","name":"Gastric perforation","obsolete":false,"parents":["HP:0002577"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gastric rupture"}]} +{"alt_ids":[],"definition":"A gastric volvulus occurs when the stomach rotates on itself at least 180 degrees along its transverse or longitudinal axis.","id":"HP:6000384","name":"Gastric volvulus","obsolete":false,"parents":["HP:0002577"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of sD163 (= soluble cluster of differentiation 163, = soluble CD163) in the blood circulation is above the upper limit of normal.","id":"HP:6000385","name":"Elevated circulating sCD163 concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Cold agglutinin are erythrocyte antibodies which possess the property of agglutinating red blood cells at temperatures of below 37 degrees C, this phenomenon is reversible after heating.","id":"HP:6000386","name":"Positive cold agglutinin test","obsolete":false,"parents":["HP:6000388"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of Donath-Landsteiner (D-L) autoantibodies (immunoglobulins) in the serum.","id":"HP:6000387","name":"Anti-D-L antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-Donath-Landsteiner antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of an antibody in the blood circulation that is directed against an antigen on the surface of erythrocytes (red-blood cells).","id":"HP:6000388","name":"Anti-erythrocyte autoantibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Antierythrocyte autoantibody positivity"}]} +{"alt_ids":[],"definition":"Abnormal result for this screening test for urinary reducing substances including glucose, fructose, galactose, lactose, pentose and maltose, as well as amino acids, cysteine, tyrosine, homogentisic acid, ketone bodies, ascorbic acid and many drugs. This term is applied if the urine stick test for glucose was negative (normal).","id":"HP:6000389","name":"Non-glucose reducing substance in urine","obsolete":false,"parents":["HP:0031979"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of succinylaminoimidazole carboxamide riboside (SAICAr). SAICAr is a toxic intermediate metabolite of purine synthesis.","id":"HP:6000390","name":"Elevated urinary succinylaminoimidazole carboxamide riboside level","obsolete":false,"parents":["HP:0033161"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excessive amount of hyaluronic acid in urine.","id":"HP:6000391","name":"Elevated urine hyaluronic acid level","obsolete":false,"parents":["HP:0003541"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyaluronic acid high in urine"}]} +{"alt_ids":[],"definition":"The amount of methylmalonylcarnitine in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000392","name":"Elevated urinary methylmalonylcarnitine level","obsolete":false,"parents":["HP:0500170"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of trihydroxycholestanoic acid in the urine. Trihydroxycholestanoic acid is an intermediate in the biosynthesis of cholic acid. Elevated plasma levels of trihydroxycholestanoic acid have been found in patients with Zellweger syndrome.","id":"HP:6000393","name":"Elevated urine trihydroxycholestanoic acid level","obsolete":false,"parents":["HP:0031979"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urine THCA level"},{"scope":"EXACT","text":"Elevated urine trihydroxycoprostanic acid level"}]} +{"alt_ids":[],"definition":"The concentration of amonia in the cerebrospinal fluid (CSF) is above the upper limit of normal.","id":"HP:6000394","name":"Elevated CSF ammonia concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal (positive) result of the Venereal Disease Research Laboratory (VDRL) test performed in cerebrospinal fluid (CSF), suggesting past or present neurosyphilis.","id":"HP:6000395","name":"Positive CSF VDRL test","obsolete":false,"parents":["HP:0430123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of guanidinoacetic acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.","id":"HP:6000396","name":"Elevated CSF guanidinoacetic acid concentration","obsolete":false,"parents":["HP:0020004"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Oligoclonal immunoglobulin G (IgG) bands (OCBs) are a useful diagnostic tool to detect a central humoral response. In particular, cerebrospinal fluid (CSF)-restricted OCBs represent a hallmark of multiple sclerosis (MS).","id":"HP:6000397","name":"CSF oligoclonal immunoglobulin G bands","obsolete":false,"parents":["HP:0025456"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of 3-methoxy-4-hydroxyphenylglycolaldehyde in the cerebrospinal fluid (CSF) is below the lower limit of normal.","id":"HP:6000398","name":"Decreased CSF 3-methoxy-4-hydroxyphenylglycolaldehyde concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of alpha-crystallin B chain in the cerebrospinal fluid (CSF) is above the upper limit of normal.","id":"HP:6000399","name":"Elevated CSF alpha-crystallin B chain concentration","obsolete":false,"parents":["HP:0025456"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Alphabeta-crystallin high in CSF"}]} +{"alt_ids":[],"definition":"The concentration of creatine in the cerebrospinal fluid (CSF) is below the lower limit of normal.","id":"HP:6000400","name":"Reduced CSF creatine concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of vitamin K-dependent protein Z in the blood circulation is below the lower limit of normal.","id":"HP:6000401","name":"Decreased circulating vitamin K-dependent protein Z concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased vitamin K-dependent protein Z concentration"},{"scope":"EXACT","text":"Decreased vitamin K-dependent protein Z level"},{"scope":"EXACT","text":"Decreased vitamin K-dependent protein Z level in blood"},{"scope":"EXACT","text":"Reduced vitamin K-dependent protein Z concentration"},{"scope":"EXACT","text":"Reduced vitamin K-dependent protein Z level"},{"scope":"EXACT","text":"Reduced vitamin K-dependent protein Z level in blood"}]} +{"alt_ids":[],"definition":"The concentration of 27-hydroxycholesterol in the blood circulation is above the upper limit of normal.","id":"HP:6000402","name":"Elevated circulating 27-hydroxycholesterol concentration","obsolete":false,"parents":["HP:0003107"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of lysophosphatidylcholines in the blood circulation is above the upper limit of normal.","id":"HP:6000403","name":"Elevated circulating lysophosphatidylcholine concentration","obsolete":false,"parents":["HP:0040300"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of insulin-like growth factor 2 (IGF2) in the blood circulation is below the lower limit of normal. IGF2 is a peptide hormone regulating various cellular processes such as proliferation and apoptosis.","id":"HP:6000404","name":"Reduced circulating insulin-like growth factor 2 concentration","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of nicotinamide adenine dinucleotide in the blood circulation is below the lower limit of normal.","id":"HP:6000405","name":"Decreased circulating nicotinamide adenine dinucleotide concentration","obsolete":false,"parents":["HP:0004352"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating NAD+ concentration"}]} +{"alt_ids":[],"definition":"The concentration of reduced nicotinamide adenine dinucleotide (NADH) in the blood circulation is below the lower limit of normal.","id":"HP:6000406","name":"Diminished circulating reduced nicotinamide adenine dinucleotide concentration","obsolete":false,"parents":["HP:0004352"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Diminished circulating reduced NADH concentration"}]} +{"alt_ids":[],"definition":"The concentration of fibroblast growth factor 23 in the blood circulation is above the upper limit of normal.","id":"HP:6000407","name":"Elevated circulating fibroblast growth factor 23 concentration","obsolete":false,"parents":["HP:6000489"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated FGF23"}]} +{"alt_ids":[],"definition":"The concentration of asparagine in the cerebrospinal fluid (CSF) is below the lower limit of normal.","id":"HP:6000408","name":"Reduced CSF asparagine concentration","obsolete":false,"parents":["HP:0500205"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A swelling or enlargement localized to the pancreas. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.","id":"HP:6000409","name":"Pancreatic mass","obsolete":false,"parents":["HP:0012090"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A swelling or enlargement localized to the small intestine. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.","id":"HP:6000410","name":"Small intestine mass","obsolete":false,"parents":["HP:0002244"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Impingement of another object such as a blood vessel upon the facial nerve, causing it to lose volume in the compressed region.","id":"HP:6000411","name":"Facial nerve compression","obsolete":false,"parents":["HP:0001293"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Compression of seventh cranial nerve"}]} +{"alt_ids":[],"definition":"Lack of blood perfusion in a specific area of the lung. Pulmonary ventilation (V) and Perfusion (Q) scan, also known as lung V/Q scan, is a nuclear test that uses the perfusion scan to delineate the blood flow distribution and the ventilation scan to measure airflow distribution in the lungs.","id":"HP:6000412","name":"Pulmonary perfusion defect","obsolete":false,"parents":["HP:0030875"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Drainage of the ureter on one or both sides into an abnormal location. Normally the ureter drains via the internal ureteral orifice at the trigone of the urinary bladder. Ectopic ureteral orifice can be either intravesical (bladder neck) or, more often, extravesical. Ectopia in women is more frequently found in the urethra and the vaginal vestibule; much less frequently in vagina and in uterus. In men it is mostly found in the posterior urethra; in the male genital tract is very rare.","id":"HP:6000413","name":"Ectopic ureteral orifice","obsolete":false,"parents":["HP:0025633"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital developmental defect characterized by the presence of two cervices on the uterus.","id":"HP:6000414","name":"Duplicate uterine cervix","obsolete":false,"parents":["HP:0012888"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cervical duplication"}]} +{"alt_ids":[],"definition":"Intradural spinal lipoma (ISL) constitutes approximately 1% of all spinal tumors and is usually associated with lumbo-sacral spinal dysraphism. ISLs unassociated with spinal dysraphism are rare with only a few cases being reported in literature. They are seen in children and young adults and are situated on the posterior aspect of the spinal cord in the cervico-thoracic or thoracic regions. They represent intradural, subpial, juxtamedullary lesions.","id":"HP:6000415","name":"Intradural spinal lipoma","obsolete":false,"parents":["HP:6000590"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the cerebellum. This term refers to a localized hyperintensity affecting a particular region of the cerebellum.","id":"HP:6000416","name":"T2 hyperintense cerebellar lesion","obsolete":false,"parents":["HP:0001317"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"T2 hyperintensities in cerebellum"}]} +{"alt_ids":[],"definition":"Physical invasion or compression of the inferior vena cava by a pathological process or by thrombosis within the vein itself.","id":"HP:6000417","name":"Inferior vena cava obstruction","obsolete":false,"parents":["HP:0025576"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A well-demarcated, flesh colored, subcutaneous and usually freely movable lump or mass. Rheumatoid nodules can vary in size from small, pea sized lesions up to the size of a lemon and are most often round. The nodules usually are doughy or firm however and not tender. Typically rheumatoid nodules are distributed over areas of repeated trauma or pressure and occur adjacent to joints on extensor surfaces, such as the elbow, fingers and forearms.","id":"HP:6000418","name":"Rheumatoid nodule","obsolete":false,"parents":["HP:0001482"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of proinsulin in the blood circulation is above the upper limit of normal.","id":"HP:6000419","name":"Elevated circulating proinsulin concentration","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated plasma proinsulin"}]} +{"alt_ids":[],"definition":"A feeling of stinging or irritation of the eyes.","id":"HP:6000420","name":"Burning eye sensation","obsolete":false,"parents":["HP:0200026"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Buildup of waxy flesh-colored scales on the margin of the eyelid.","id":"HP:6000421","name":"Collarettes","obsolete":false,"parents":["HP:0000492"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of blisters (bullae) on the tympanic membrane, often accompanied by fever, thickening, and erythematous appearance of the tympanic membrane, decreased or absent light reflex, and decreased mobility.","id":"HP:6000422","name":"Tympanic membrane bulla","obsolete":false,"parents":["HP:0040090"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullous myringitis"},{"scope":"EXACT","text":"Tympanic membrane blister"}]} +{"alt_ids":[],"definition":"Applies to an abnormality whose distribution and appearance are located at regions of the male face covered by a beard or mustache.","id":"HP:6000423","name":"Beard and mustache distribution","obsolete":false,"parents":["HP:0012838"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Kerion is an erythematous, boggy, tender, often sterile, weeping nodule or plaque with pustules and draining sinuses. Hair in these areas appears lusterless, brittle, and is easily plucked. Kerion can be solitary or multiple but is usually unilateral. Patients with inflammatory tinea barbae may have constitutional symptoms like fever and malaise. Kerion is a coalesced sterile pustule, but occasionally they can get superinfected with cutaneous bacteria and develop regional lymphadenopathy.","id":"HP:6000424","name":"Kerion","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality that is situated in (or predominant in) the trunk of the body. The trunk is the main part of a person's body, not including the head, legs, or arms.","id":"HP:6000425","name":"Truncal location","obsolete":false,"parents":["HP:0012838"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of acyl-CoA:dihydroxyacetone phosphate acyltransferase below the lower limit of normal in cultured fibroblasts.","id":"HP:6000426","name":"Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of alkyl-dihydroxyacetonephosphate (DHAP) synthase below the lower limit of normal in cultured fibroblasts.","id":"HP:6000427","name":"Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced alkyl-DHAP synthase activity in cultured fibroblasts"}]} +{"alt_ids":[],"definition":"Accumulation of fibronectin in the glomerulus.","id":"HP:6000428","name":"Glomerular fibronectin deposits","obsolete":false,"parents":["HP:0030949"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Marked enlargement of nuclei observed predominantly in the proximal convoluted tubule cells.","id":"HP:6000429","name":"Renal tubular karyomegaly","obsolete":false,"parents":["HP:0000091"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of acetyl-CoA carboxylase in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including liver.","id":"HP:6000430","name":"Reduced tissue acetyl-CoA carboxylase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced hepatic acetyl-CoA carboxylase activity"}]} +{"alt_ids":[],"definition":"The amount of glycolic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000431","name":"Elevated urinary glycolic acid level","obsolete":false,"parents":["HP:0033303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of propionic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000432","name":"Elevated urine propionic acid level","obsolete":false,"parents":["HP:0033303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of butyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000433","name":"Elevated urinary butyric acid level","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of isovaleric acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000434","name":"Elevated urinary isovaleric acid level","obsolete":false,"parents":["HP:0001992"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of alpha-ketoglutarate in the blood circulation is above the upper limit of normal.","id":"HP:6000435","name":"Elevated circulating alpha-ketoglutarate concentration","obsolete":false,"parents":["HP:0004354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Alpha-ketoglutarate high in blood"}]} +{"alt_ids":[],"definition":"The concentration of ghrelin in the blood circulation is above the upper limit of normal. Ghrelin is a 28-amino-acid peptide predominantly secreted in the stomach and stimulates appetite and growth hormone (GH) release.","id":"HP:6000436","name":"Elevated circulating ghrelin concentration","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of stearoylcarnitine (C18:0) in the blood circulation is below the lower limit of normal.","id":"HP:6000437","name":"Decreased circulating stearoylcarnitine concentration","obsolete":false,"parents":["HP:0033445"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating O-stearoylcarnitine concentration"},{"scope":"EXACT","text":"Decreased stearoylcarnitine concentration"},{"scope":"EXACT","text":"Decreased stearoylcarnitine level"},{"scope":"EXACT","text":"Decreased stearoylcarnitine level in blood"},{"scope":"EXACT","text":"Reduced stearoylcarnitine concentration"},{"scope":"EXACT","text":"Reduced stearoylcarnitine level"},{"scope":"EXACT","text":"Reduced stearoylcarnitine level in blood"}]} +{"alt_ids":[],"definition":"The amount of iodine in the urine, normalized for urine concentration, is below the lower limit of normal.","id":"HP:6000438","name":"Reduced urinary iodine level","obsolete":false,"parents":["HP:0025640"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of interleukin 15 (IL-15) in the blood circulation is above the upper limit of normal.","id":"HP:6000439","name":"Increased circulating interleukin 15 concentration","obsolete":false,"parents":["HP:0011117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"IL-15 high in blood"}]} +{"alt_ids":[],"definition":"The concentration of squalene in the blood circulation is below the lower limit of normal.","id":"HP:6000440","name":"Reduced circulating squalene concentration","obsolete":false,"parents":["HP:0430071"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal range of the concentration of interleukin 6 (IL-6) in the blood circulation.","id":"HP:6000441","name":"Abnormal circulating interleukin 6 concentration","obsolete":false,"parents":["HP:0011117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal range of the concentration of interleukin 12 in the blood circulation.","id":"HP:6000442","name":"Abnormal circulating interleukin 12 concentration","obsolete":false,"parents":["HP:0011117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of mercury in the blood is above the upper limit of a guidance value for total blood mercury concentrations that implies possible injurious effects.","id":"HP:6000443","name":"Elevated blood mercury concentration","obsolete":false,"parents":["HP:0410172"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of cadmium in the blood is above the upper limit of a guidance value for total blood mercury concentrations that implies possible injurious effects.","id":"HP:6000444","name":"Elevated blood cadmiun concentration","obsolete":false,"parents":["HP:0410172"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of thallium in the blood is above the upper limit of a guidance value for total blood mercury concentrations that implies possible injurious effects.","id":"HP:6000445","name":"Elevated thallium concentration","obsolete":false,"parents":["HP:0410172"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration in the blood circulation of a member of the CC chemokine family is outside of normal limits.","id":"HP:6000446","name":"Abnormal circulating CC chemokine concentration","obsolete":false,"parents":["HP:0011115"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of asialotransferrin relative to that of transferrin in the cerebrospinal fluid (CSF) is below the lower limit of normal.","id":"HP:6000447","name":"Decreased CSF asialotransferrin to transferrin ratio","obsolete":false,"parents":["HP:0025456"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against desmocollin.","id":"HP:6000448","name":"Anti-desmocollin antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A history of exposure by inhalation of airborne particles generated during the processing of raw, nonsynthetic textiles, particularly cotton. Classically, exposure to cotton dust during the spinning and manufacturing process causes byssinosis. However, exposure to jute, flax, and hemp fibers has also been implicated in its development.","id":"HP:6000449","name":"Occupational exposure to raw nonsynthetic textiles","obsolete":false,"parents":["HP:0035010"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Localized or diffuse epithelial proliferation with hypertrophy of the muscularis layer and invagination of the mucosa through the muscularis, forming intramural diverticula (i.e., small, bulging pouches in the wall of the gallbladder).","id":"HP:6000450","name":"Rokitansky-Aschoff gallbladder sinuses","obsolete":false,"parents":["HP:0012437"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Adenomyomatosis of the gallbladder"},{"scope":"EXACT","text":"Epithelial invaginations of the gallbladder forming cystic pockets"}]} +{"alt_ids":[],"definition":"Porcelain gallbladder refers to the condition in which the inner gallbladder wall is encrusted with calcium. The wall becomes brittle, hard, and often takes on a bluish hue. It is usually found incidentally on plain abdominal x-rays or other imaging because most patients are asymptomatic.","id":"HP:6000451","name":"Porcelain gallbladder","obsolete":false,"parents":["HP:0012437"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Calcified gallbladder"},{"scope":"EXACT","text":"Calcifying cholecystitis"},{"scope":"EXACT","text":"Cholecystopathia chronica calcarea"}]} +{"alt_ids":[],"definition":"Strands of scar tissue bands of scar tissue that form an abnormal connection between the gallbladder and another abdominal structure. Adhesions can form followiing gallbladder inflammation (cholecystitis).","id":"HP:6000452","name":"Gallbladder adhesions","obsolete":false,"parents":["HP:0012437"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal connection between the gallbladder and the duodenum.","id":"HP:6000453","name":"Bilioduodenal fistula","obsolete":false,"parents":["HP:6001043"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bouveret syndrome"}]} +{"alt_ids":[],"definition":"Accumulation of gas in the biliary tree.","id":"HP:6000454","name":"Pneumobilia","obsolete":false,"parents":["HP:0012440"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aerobilia"},{"scope":"EXACT","text":"Air in the biliary system"}]} +{"alt_ids":[],"definition":"A gallstone located outside of the gallbladder.","id":"HP:6000455","name":"Ectopic gallstone","obsolete":false,"parents":["HP:0001081"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gallstone outside of the gallbladder"}]} +{"alt_ids":[],"definition":"Sleep drunkenness refers to the prolonged and pronounced difficulty with awakening from nocturnal sleep and daytime naps. This symptom should be distinguished from the milder and physiologic state of sleep inertia seen even in healthy controls.","id":"HP:6000456","name":"Sleep drunkeness","obsolete":false,"parents":["HP:0025184"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Confusional arousal"},{"scope":"RELATED","text":"Excessive sleep inertia"},{"scope":"EXACT","text":"Slow speech or confused thinking upon waking"}]} +{"alt_ids":[],"definition":"Cytoplasmic hyaline inclusions of hepatocytes that are predominantly filamentous ranging from a diameter of 3 to 24 nm vs. 10 nm of classical IF. Mallory-Denk bodies can be classified as type I (parallels filaments), II (randomly orient filaments), or III (granular and amorphous). Type II occurs in the periphery while type III occurs around the center. MDB occur in ballooned hepatocytes.","id":"HP:6000457","name":"Mallory bodies","obsolete":false,"parents":["HP:0034713"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Mallory-Denk bodies"}]} +{"alt_ids":[],"definition":"An abscess containing tiny yellow clumps (sulfur granules), formed by infection with Actinomyces and generally associated with a granulomatous and suppurative infection.","id":"HP:6000458","name":"Sulfur-containing abscess","obsolete":false,"parents":["HP:0025615"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A condition in which part of the tympanic membrane is pull backed into the middle ear cavity (also called retraction pocket).","id":"HP:6000459","name":"Retracted tympanic membrane","obsolete":false,"parents":["HP:0040090"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Localization of the testis in an anatomic location other than the scrotum.","id":"HP:6000460","name":"Ectopic testis","obsolete":false,"parents":["HP:0000035"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A fluid-filled sac (cyst) in the region below the cortex of the cerebrum. In magnetic resonance imaging, the fluid within the cyst has the same appearance as cerebrospinal fluid (CSF).","id":"HP:6000461","name":"Cerebral subcortical cyst","obsolete":false,"parents":["HP:0010993"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against A Disintegrin and Metalloprotease with ThromboSpondin type 1 repeats, member 13 (ADAMTS13).","id":"HP:6000462","name":"Anti-ADAMTS13 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tendency to breathe through the mouth. Defined as over 25-30 percent of the air passing through the mouth instead of the nose, mouth breathing often occurs due to upper airway obstruction which reduces the nasal airflow and forces the air to enter completely or partially through oral cavity.","id":"HP:6000463","name":"Habitual mouth breathing","obsolete":false,"parents":["HP:0002793"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An appearance of the shoulders whereby the neck-trapezius angle (angle between the neck and the shoulder) and the angle formed by the shoulder and the arms hanging at the side of the body are both close to 90 degrees. This gives the should the appearance of the corner of a square.","id":"HP:6000464","name":"Squared off shoulders","obsolete":false,"parents":["HP:0003043"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of mesaconic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000465","name":"Elevated urine mesaconic acid level","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of 3-methyladipic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000466","name":"Elevated urine 3-methyladipic acid level","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of D-lactate in the urine, normalized for urine concentration, is above the upper limit of normal. L-lactate is a familiar molecule to the human body and is also produced in large amounts in human tissues, depending on metabolic conditions. In contrast, D-lactate is produced only in minute quantities in human tissues, and is therefore not detectable in the bloodstream under normal physiological conditions.","id":"HP:6000467","name":"Elevated urine D-lactate level","obsolete":false,"parents":["HP:0012072"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of alpha-ketoglutarate in the cerebrospinal fluid (CSF) is above the upper limit of normal.","id":"HP:6000468","name":"Elevated CSF alpha-ketoglutarate concentration","obsolete":false,"parents":["HP:0500183"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of 2,3-dihydroxy-2-methylbutanoic acidin the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000469","name":"Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level","obsolete":false,"parents":["HP:0033303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"2-methyl-2,3-dihydroxybutyrate high in urine"},{"scope":"EXACT","text":"Elevated urine 2-methyl-2,3-dihydroxybutyrate level"}]} +{"alt_ids":[],"definition":"A swelling or enlargement localized to the oral cavity of a fetus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. This finding is generally first observed by prenatal sonography or magnetic resonance imaging.","id":"HP:6000470","name":"Fetal oral mass","obsolete":false,"parents":["HP:0034207"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increase in diameter of the ejeculatory duct. The ejaculatory duct delivers sperm into the urethra, adding secretions from the prostate and is formed by the union of the vas deferens with the duct of the seminal vesicle.","id":"HP:6000471","name":"Dilated ejaculatory duct","obsolete":false,"parents":["HP:0000022"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ejaculatory duct dilated"}]} +{"alt_ids":[],"definition":"The concentration of Wiskott-Aldrich syndrome protein in hematopoietic cells is below the lower limit of normal. This feature is measured by flow cytometry or Western blotting.","id":"HP:6000472","name":"Decreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells","obsolete":false,"parents":["HP:0032243"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The number of T cells in peripheral blood that express FOXP3-expressing is below the lower limit of normal. This finding is determined by flow cytometry.","id":"HP:6000473","name":"Decreased FOXP3-expressing T cell count","obsolete":false,"parents":["HP:0002843"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of a complement component in the blood circulation is above the upper limit of normal.","id":"HP:6000474","name":"Elevated circulating complement component concentration","obsolete":false,"parents":["HP:0005339"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a component of beta-fodrin.","id":"HP:6000475","name":"Anti-beta fodrin antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of tetradecenoylcarnitine (C14:1) in the blood circulation is above the upper limit of normal.","id":"HP:6000476","name":"Elevated circulating tetradecenoylcarnitine concentration","obsolete":false,"parents":["HP:0033465"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of 2-trans,4-cis-decadienoylcarnitine in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000477","name":"Elevated urine 2-trans,4-cis-decadienoylcarnitine level","obsolete":false,"parents":["HP:0500170"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of 2-trans,4-cis-decadienoylcarnitine in the blood circulation is above the upper limit of normal.","id":"HP:6000478","name":"Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration","obsolete":false,"parents":["HP:0035017"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of N-acetyltyrosine in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000479","name":"Elevated urine N-acetyltyrosine level","obsolete":false,"parents":["HP:0033090"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of manganese in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000480","name":"Elevated urine manganese level","obsolete":false,"parents":["HP:0025640"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of manganese in the urine, normalized for urine concentration, is below the lower limit of normal.","id":"HP:6000481","name":"Reduced urinary manganese level","obsolete":false,"parents":["HP:0025640"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of a catecholamine in the blood circulation below the lower limit of normal.","id":"HP:6000482","name":"Decreased circulating catecholamine concentration","obsolete":false,"parents":["HP:0012099"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Empty sella or arachnoidocele has been defined as the herniation of the subarachnoid space within the sella turcica, associated with elongated pituitary stalk and flattening of the pituitary gland.","id":"HP:6000483","name":"Empty sella turcica","obsolete":false,"parents":["HP:0002679"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Arachnoidocele"}]} +{"alt_ids":[],"definition":"An increase in the level of guanidinoacetate in the brain identified by magnetic resonance spectroscopy (MRS).","id":"HP:6000484","name":"Elevated brain guanidinoacetate level by MRS","obsolete":false,"parents":["HP:0012705"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of beta-hCG in the blood circulation is above the upper limit of normal.","id":"HP:6000485","name":"Elevated circulating beta-hCG concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated choriogonadotropin subunit beta concentration"},{"scope":"EXACT","text":"Elevated choriogonadotropin subunit beta level"},{"scope":"EXACT","text":"Elevated choriogonadotropin subunit beta level in blood"},{"scope":"EXACT","text":"Elevated circulating choriogonadotropin subunit beta concentration"},{"scope":"EXACT","text":"Increased choriogonadotropin subunit beta concentration"},{"scope":"EXACT","text":"Increased choriogonadotropin subunit beta level"},{"scope":"EXACT","text":"Increased choriogonadotropin subunit beta level in blood"}]} +{"alt_ids":[],"definition":"The concentration of C-X-C motif chemokine 10 (CXCL10) in the blood circulation is above the upper limit of normal.","id":"HP:6000486","name":"Elevated circulating CXCL10 concentration","obsolete":false,"parents":["HP:0011115"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of interleukin 12 (IL-12) in the blood circulation is below the lower limit of normal.","id":"HP:6000487","name":"Reduced circulating interleukin 12 concentration","obsolete":false,"parents":["HP:6000442"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of fibroblast growth factor 23 in the blood circulation is below the lower limit of normal.","id":"HP:6000488","name":"Reduced circulating fibroblast growth factor 23 concentration","obsolete":false,"parents":["HP:6000489"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fibroblast growth factor 23 hormone low in blood"},{"scope":"EXACT","text":"Reduced FGF23"}]} +{"alt_ids":[],"definition":"The concentration of fibroblast growth factor 23 in the blood circulation is outside of the limits of normal.","id":"HP:6000489","name":"Abnormal circulating fibroblast growth factor 23 concentration","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal FGF23 concentration"}]} +{"alt_ids":[],"definition":"Difficulty or reduced ability to walk on heels. Heel-walking can be tested as a part of the neurological examination. Foot dorsal extension weakness leads to difficulties in walking on heels.","id":"HP:6000490","name":"Impaired heel-walking ability","obsolete":false,"parents":["HP:0001288"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against prothrombin.","id":"HP:6000491","name":"Anti-prothrombin antibody positivity","obsolete":false,"parents":["HP:6000351"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-FII antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against factor V.","id":"HP:6000492","name":"Anti-factor V antibody positivity","obsolete":false,"parents":["HP:6000351"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-FV antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against factor VII.","id":"HP:6000493","name":"Anti-factor VII antibody positivity","obsolete":false,"parents":["HP:6000351"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-FVII antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against factor VIII.","id":"HP:6000494","name":"Anti-factor VIII antibody positivity","obsolete":false,"parents":["HP:6000351"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-FVIII antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against factor IX.","id":"HP:6000495","name":"Anti-factor IX antibody positivity","obsolete":false,"parents":["HP:6000351"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-FIX antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of an antibody in the blood circulation that is directed against factor X.","id":"HP:6000496","name":"Anti-factor X antibody positivity","obsolete":false,"parents":["HP:6000351"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-FX antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of an antibody in the blood circulation that is directed against factor XI.","id":"HP:6000497","name":"Anti-factor XI antibody positivity","obsolete":false,"parents":["HP:6000351"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-FXI antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of an antibody in the blood circulation that is directed against factor XIII.","id":"HP:6000498","name":"Anti-factor XIII antibody positivity","obsolete":false,"parents":["HP:6000351"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-FXIII antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of an antibody in the blood circulation that is directed against factor H.","id":"HP:6000499","name":"Anti-factor H antibody positivity","obsolete":false,"parents":["HP:6000351"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-FH antibody positivity"}]} +{"alt_ids":[],"definition":"Cool or cold arms or legs related to peripheral vasoconstriction, the narrowing of blood vessels resulting from the contraction of muscular walls in large arteries and the small arterioles of skin and most internal organs. Following exposure to low ambient temperatures, vasoconstriction decreases heat dissipation from skin surfaces, thus preventing life-threatening hypothermia.","id":"HP:6000500","name":"Extremities cold to touch","obsolete":false,"parents":["HP:0025142"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Peripheral vasoconstriction"}]} +{"alt_ids":[],"definition":"An irregular wavy appearance of sperm acrosomes.","id":"HP:6000501","name":"Ruffled acrosome","obsolete":false,"parents":["HP:0012865"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of calprotectin in the blood circulation is above the upper limit of normal.","id":"HP:6000502","name":"Elevated circulating calprotectin concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A soft tissue continuity in the anteroposterior axis between the toes 4 and 5.","id":"HP:6000503","name":"4-5 toe cutaneous syndactyly","obsolete":false,"parents":["HP:0004692","HP:0010621"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A typical physical examination in patients with muscular dystrophies and selective weakness and atrophy of the trapezius muscle and proximal deltoid muscle. The contour of the back shows unique hills and drops.","id":"HP:6000504","name":"Poly-hill sign","obsolete":false,"parents":["HP:0001446"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A soft tissue continuity in the anteroposterior axis between the third to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints.","id":"HP:6000505","name":"3-5 finger cutaneous syndactyly","obsolete":false,"parents":["HP:0010710"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Soft tissue syndactyly of fingers 3-5"},{"scope":"EXACT","text":"Webbed 3th, 4th, and 5th finger"},{"scope":"EXACT","text":"Webbed third, fourth, and fifth finger"}]} +{"alt_ids":[],"definition":"Partial dislocation of the radioulnar joint.","id":"HP:6000506","name":"Radioulnar subluxation","obsolete":false,"parents":["HP:0003059"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Non-pitting edema occurs when excess fluid builds up in the body causing swelling that does not indent when pressure is applied. It usually occurs in the limbs, and often results from underlying medical conditions affecting lymphatic system function.","id":"HP:6000507","name":"Non-pitting edema","obsolete":false,"parents":["HP:0000969"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the human ferritin peptide.","id":"HP:6000508","name":"Anti-human ferritin peptide antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of L-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.","id":"HP:6000509","name":"Elevated CSF L-2-hydroxyglutaric acid concentration","obsolete":false,"parents":["HP:0500183"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of inosine triphosphate in red blood cells is above the upper limit of normal.","id":"HP:6000510","name":"Elevated erythrocyte inosine triphosphate concentration","obsolete":false,"parents":["HP:0034737"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity or concentration of inosine triphosphate pyrophosphohydrolase (EC 3.6.1.19) in red blood cells below the lower limit of normal.","id":"HP:6000511","name":"Reduced erythrocyte inosine triphosphatase activity","obsolete":false,"parents":["HP:0030272"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of alpha-1,3-fucosyltransferase is below the lower limit of normal in the blood circulation.","id":"HP:6000512","name":"Reduced circulating alpha-1,3-fucosyltransferase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of the enzyme myeloperoxidase (EC 1.11.1.7) in neutrophils below the lower limit of normal. This feature can be measured by peroxidase cytochemistry or biochemical assays. Myeloperoxidase is a lysosomal hemoprotein located in the azurophilic granules of polymorphonuclear leukocytes and monocytes.","id":"HP:6000513","name":"Diminished neutrophil myeloperoxidase activity","obsolete":false,"parents":["HP:0011992"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity or concentration of in the level of uroporphyrinogen III (EC 4.2.1.75) in erythrocytes below the lower limit of normal.","id":"HP:6000514","name":"Reduced erythrocyte uroporphyrinogen III cosynthase activity","obsolete":false,"parents":["HP:0030272"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The relative concentration in the blood circulation of 18-hydroxycorticosterone compared to that of aldosterone is above the upper limit of normal.","id":"HP:6000515","name":"Elevated 18-hydroxycorticosterone to aldosterone ratio","obsolete":false,"parents":["HP:0012112"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of 21-deoxycortisol in the blood circulation is above the upper limit of normal.","id":"HP:6000516","name":"Elevated circulating 21-deoxycortisol concentration","obsolete":false,"parents":["HP:0003118"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of monolysocardiolipin related to that of cardiolipin is above the upper limit of normal. This is a functional assay that can be performed from a blood spot to diagnose Barth syndrome (OMIM:302060).","id":"HP:6000517","name":"Elevated monolysocardiolipin/cardiolipin ratio","obsolete":false,"parents":["HP:0040176"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of vitamin B12 in the mother's blood during pregnancy is below the lower limit of normal.","id":"HP:6000518","name":"Low maternal vitamin B12 concentration","obsolete":false,"parents":["HP:0011436"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of inibin A in the blood circulation is above the upper limit of normal.","id":"HP:6000519","name":"Elevated circulating inhibin A concentration","obsolete":false,"parents":["HP:0031099"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of inhibin B in the blood circulation is above the upper limit of normal.","id":"HP:6000520","name":"Increased circulating inhibin B concentration","obsolete":false,"parents":["HP:0430147"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inhibin B high in blood"}]} +{"alt_ids":[],"definition":"The concentration of lipoprotein(a) in the blood circulation is above the upper limit of normal. Lipoprotein(a), also known as apolipoprotein(A), is encoded by LPA (HGNC:6667).","id":"HP:6000521","name":"Elevated circulating lipoprotein(a) concentration","obsolete":false,"parents":["HP:0430148"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of lipoprotein(a) in the blood circulation is below the lower limit of normal. Lipoprotein(a), also known as apolipoprotein(A), is encoded by LPA (HGNC:6667).","id":"HP:6000522","name":"Reduced circulating lipoprotein(a) concentration","obsolete":false,"parents":["HP:0430148"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of bile acids in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000523","name":"obsolete Increased urinary bile acid level","obsolete":true,"parents":[],"replaced_by":["HP:6000701"],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of bile acids in the urine, normalized for urine concentration, is outside the limits of normal.","id":"HP:6000524","name":"Abnormal urinary bile acid level","obsolete":false,"parents":["HP:0031980"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of glutathione reductase (EC 1.6.4.2) in erythrocytes below the lower limit of normal.","id":"HP:6000525","name":"Reduced erythrocyte glutathione reductase activity","obsolete":false,"parents":["HP:0030272"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Failure to elevate lactate in blood washed out from ischemically exercised muscles as assayed by the forearm ischemic exercise test.","id":"HP:6000526","name":"Failure to elevate lactate upon ischemic exercise test","obsolete":false,"parents":["HP:0011014"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of cholestanol in the blood circulation is above the upper limit of normal. Cholestanol is the 5-alpha-dihydro derivative of cholesterol.","id":"HP:6000527","name":"Elevated circulating cholestanol concentration","obsolete":false,"parents":["HP:0003107"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A medical history of having been exposed to livestock (animals such as cattle and sheep which are kept on a farm ).","id":"HP:6000528","name":"Livestock exposure","obsolete":false,"parents":["HP:4000110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality of the skin in which multiple lesions occur at the same time.","id":"HP:6000529","name":"Synchronous skin lesions","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Refers to a skin lseion that has a snake-like (serpentine) shape.","id":"HP:6000530","name":"Serpentine skin location","obsolete":false,"parents":["HP:0012830"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of an organic compound in the urine, normalized for urine concentration, is outside the limits of normal. An organic compound is defined here as a chemical compound that contains a carbon-hydrogen or carbon-carbon bond, although some other definitions exist. Examples of organic compounds includes alkanes, alkenes, alkynes, aromatic compounds, alcohols, ketones, aldehydes, carboxylic acids, and esters.","id":"HP:6000531","name":"Abnormal urinary organic compound level","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of histamine in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000532","name":"Elevated urinary histamine level","obsolete":false,"parents":["HP:6000531"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of N-methylhistamine in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000533","name":"Elevated urinary N-methylhistamine level","obsolete":false,"parents":["HP:6000531"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of ureidopropionic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000534","name":"Elevated urinary ureidopropionic acid level","obsolete":false,"parents":["HP:0033303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ureidopropionic acid high in urine"}]} +{"alt_ids":[],"definition":"The amount of a porphyrin compound in the urine, normalized for urine concentration, is above the upper limit of normal. Porphrins are natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. Porpyrins giove rise to heme and combalamine.","id":"HP:6000535","name":"Elevated urinary porphyrin level","obsolete":false,"parents":["HP:6000531"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of a coproporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000536","name":"Elevated urinary coproporphyrin level","obsolete":false,"parents":["HP:6000535"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality of the skin that is located in or surrounding eccrine sweat glands.","id":"HP:6000537","name":"Eccrine sweat gland predominance","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality of the skin whose boundary to the surrounding normal skin is not clearly defined.","id":"HP:6000538","name":"Poorly demarcated skin lesion","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Medical history of a recent bite or scratch injury due to a cat.","id":"HP:6000539","name":"History of recent cat bite","obsolete":false,"parents":["HP:0020138"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"History of recent cat scratch"}]} +{"alt_ids":[],"definition":"A history of having been in an area with inadequate sewage sanitation in the recent past.","id":"HP:6000540","name":"History of recent stay in area with inadequate sewage sanitation","obsolete":false,"parents":["HP:4000144"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of cutaneous herpes simplex virus nucleic acid in the skin by a method such as polymerase chain reaction. The sample is usually obtained by cutaneous swabs from skin lesions.","id":"HP:6000541","name":"Positive cutaneous herpes simplex virus nucleic acid test","obsolete":false,"parents":["HP:0430117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of Mycobacterium tuberculosis nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction.","id":"HP:6000542","name":"Positive CSF mycobacterium tuberculosis nucleic acid test","obsolete":false,"parents":["HP:0430140"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:6000543","name":"obsolete Positive mycobacterium CSF culture","obsolete":true,"parents":[],"replaced_by":["HP:6000835"],"synonyms":[]} +{"alt_ids":[],"definition":"The demonstration of mycobacterium by microscopy of the cerebrospinal fluid (CSF).","id":"HP:6000544","name":"Positive mycobacterium CSF microscopy","obsolete":false,"parents":["HP:0430123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of nucleic acid of treponema pallidum in the blood circulation by a method such a polymerase chain reaction.","id":"HP:6000545","name":"Positive treponema pallidum PCR test in the blood circulation","obsolete":false,"parents":["HP:0430067"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of nucleic acid of human immunodeficiency vrus (HIV) in the blood circulation by a method such as polymerase chain reaction (PCR).","id":"HP:6000546","name":"Positive human Immunodeficiency virus nucleic acid test in the blood circulation","obsolete":false,"parents":["HP:0430067"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of enteroviral nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.","id":"HP:6000547","name":"Positive CSF enterovirus nucleic acid test","obsolete":false,"parents":["HP:0430140"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of Borrelia burgdorferi nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction.","id":"HP:6000548","name":"Positive CSF Borrelia burgdorferi nucleic acid test","obsolete":false,"parents":["HP:0430140"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of arbovus nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR..","id":"HP:6000549","name":"Positive CSF arbovirus nucleic acid test","obsolete":false,"parents":["HP:0430140"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of nucleic acid of Bartonella henselae in the blood circulation by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.","id":"HP:6000550","name":"Positive Bartonella henselae nucleic acid test in the blood circulation","obsolete":false,"parents":["HP:0430067"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of nucleic acid of the Dengue virus in the blood circulation by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.","id":"HP:6000551","name":"Positive Dengue virus PCR test in the blood circulation","obsolete":false,"parents":["HP:0430067"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of JC-virus nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction.","id":"HP:6000552","name":"Positive CSF JC-virus nucleic acid test","obsolete":false,"parents":["HP:0430140"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of malaria parasites in the peripheral blood.","id":"HP:6000553","name":"Bloodstream Malaria parasite","obsolete":false,"parents":["HP:0034523"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of nucleic acid of Plasmodium falciparum (a type of Malaria parasite) in the blood circulation by a method such as polymerase chain reaction (PCR).","id":"HP:6000554","name":"Positive bloodstream plasmodium falciparum nucleic acid pathogen test","obsolete":false,"parents":["HP:0430067"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity or concentration of fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) in red blood cells below the lower limit of normal.","id":"HP:6000555","name":"Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity","obsolete":false,"parents":["HP:0030272"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of Dopamine beta-hydroxylase (DBH; EC 1.14.17.1) in the blood circulation below the lower limit of normal. DBH catalyzes the oxidative hydroxylation of dopamine to norepinephrine.","id":"HP:6000556","name":"Reduced circulating dopamine beta-hydroxylase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity or concentration of bisphosphoglycerate mutase (BPGM; EC 5.4.2.4;) in red blood cells below the lower limit of normal. BPGM is a multifunctional enzyme specifically found in red blood cells that synthesizes 2,3-diphosphoglycerate through its synthase activity and degrades it through its phosphatase activity.","id":"HP:6000557","name":"Reduced erythrocyte bisphosphoglycerate mutase activity","obsolete":false,"parents":["HP:0030272"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity or concentration of in the level of adenylate kinase (EC 2.7.4.3) in erythrocytes below the lower limit of normal. Adenylate kinase is a ubiquitous monomeric enzyme that catalyzes the reversible conversion of MgATP plus AMP to MgADP plus ADP and contributes to homeostasis of the adenine nucleotide composition in the cell.","id":"HP:6000558","name":"Reduced erythrocyte adenylate kinase activity","obsolete":false,"parents":["HP:0030272"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity or concentration of hexokinase (EC 2.7.1.1) in red blood cells below the lower limit of normal. Arginase catalyzes the last step of the urea cycle.","id":"HP:6000559","name":"Reduced erythrocyte hexokinase activity","obsolete":false,"parents":["HP:0030272"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of the enzyme Carboxypeptidase N (arginine carboxypeptidase, EC 3.4.17.3) in the blood circulation below the lower limit of normal.","id":"HP:6000560","name":"Decreased circulating carboxypeptidase N activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity or concentration of pyruvate kinase (EC 2.7.1.40) in erythrocytes above the upper limit of normal. Pyruvate kinase (EC 2.7.1.40) is a glycolytic enzyme that catalyzes the transphosphorylation from phosphoenolpyruvate (PEP) to ADP, yielding pyruvate and ATP.","id":"HP:6000561","name":"Elevated red cell pyruvate kinase activity","obsolete":false,"parents":["HP:0030272"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of adenosine deaminase 2 in the blood circulation below the lower limit of normal.","id":"HP:6000562","name":"Reduced circulating adenosine deaminase-2 activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced circulating ADA2 activity"}]} +{"alt_ids":[],"definition":"Activity of sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase; EC 1.1.1.153) below the lower limit of normal in cultured fibroblasts.","id":"HP:6000563","name":"Reduced sepiapterin reductase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of vasoactive intestinal peptide (VIP) in the blood circulation is above the upper limit of normal.","id":"HP:6000564","name":"Elevated circulating vasoactive intestinal peptide concentration","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of cholesterol sulfate in the blood circulation is above the upper limit of normal.","id":"HP:6000565","name":"Elevated circulating cholesterol sulfate concentration","obsolete":false,"parents":["HP:0003107"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of lipoprotein-X in the blood circulation is above the upper limit of normal.","id":"HP:6000566","name":"Elevated circulating lipoprotein-X concentration","obsolete":false,"parents":["HP:0010980"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of oxalate in the blood circulation is above the upper limit of normal.","id":"HP:6000567","name":"Elevated circulating oxalate concentration","obsolete":false,"parents":["HP:0040145"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of ethylene glycol in the blood is above the upper limit of a guidance value for total concentrations that implies possible injurious effects.","id":"HP:6000568","name":"Elevated blood ethylene glycol concentration","obsolete":false,"parents":["HP:0410172"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Exaggerated indentation at the very middle (midline) of the lower lip.","id":"HP:6000569","name":"Midline notching of lower lip","obsolete":false,"parents":["HP:0000178"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of thymidine phosphorylase (EC 2.4.2.4) in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes.","id":"HP:6000570","name":"Reduced tissue thymidine phosphorylase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced leukocyte thymidine phosphorylase activity"}]} +{"alt_ids":[],"definition":"Activity of tripeptidyl peptidase 1 (TPP1;EC 3.4.14.9) in the tissues below the lower limit of normal. TTP1 activity can be measured in tissues including fibroblasts and leukocytes muscle.","id":"HP:6000571","name":"Reduced tissue tripeptidyl peptidase 1 activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced leukocyte tripeptidyl peptidase 1 activity"},{"scope":"EXACT","text":"Reduced tripeptidyl peptidase 1 activity in cultured fibroblasts"}]} +{"alt_ids":[],"definition":"Activity of L-arginine:glycine amidinotransferase (GATM; EC 2.1.4.1) in the tissues below the lower limit of normal. GATM activity can be measured in multiple tissues including leukocytes and cultured fibroblasts.","id":"HP:6000572","name":"Reduced tissue arginine:glycine amidinotransferase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of aspartylglucosaminidase (AGA; EC 3.5.1.26) in the tissues below the lower limit of normal. AGA activity can be measured in multiple tissues including leukocytes and cultured fibroblasts.","id":"HP:6000573","name":"Reduced tissue aspartylglucosaminidase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of carnitine-acylcarnitine translocase (CACT) in tissues below the lower limit of normal. CACT activity can be measured in multiple tissues.","id":"HP:6000574","name":"Reduced tissue carnitine-acylcarnitine translocase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The activity of 6-pyruvoyltetrahydropterin synthase in the blood circulation is below the lower limit of normal.","id":"HP:6000575","name":"Reduced circulating 6-pyruvoyltetrahydropterin synthase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of mannosyl-oligosaccharide glucosidase (MOGS) in tissues below the lower limit of normal. MOGS activity can be measured in multiple tissues including liver and cultured fibroblasts.","id":"HP:6000576","name":"Reduced tissue mannosyl-oligosaccharide glucosidase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of the mitochondrial enzyme 3-methylglutaconyl-CoA hydratase (EC 4.2.1.18) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts.","id":"HP:6000577","name":"Reduced tissue 3-methylglutaconyl-CoA hydratase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of gamma-glutamyltransferase in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes and cultured fibroblasts.","id":"HP:6000578","name":"Reduced tissue gamma-glutamyltransferase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced tissue gamma-glutamyl transpeptidase activity"}]} +{"alt_ids":[],"definition":"Any kind of test for an infectious agent in the oropharynx positive. The oropharynx is defined as the middle part of the throat and includes the soft palate, the side and back walls of the throat, the tonsils, and the posterior one-third of the tongue.","id":"HP:6000579","name":"Positive oropharangeal infectious agent test","obsolete":false,"parents":["HP:0430030"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of poliovirus nucleic acid in the oropharynx by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.","id":"HP:6000580","name":"Positive oropharynx poliovirus nucleic acid test","obsolete":false,"parents":["HP:6000579"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any kind of test for an infectious agent in the synovial fluid (i.e., in a joint) positive.","id":"HP:6000581","name":"Positive synonvial fluid infectious agent test","obsolete":false,"parents":["HP:0430030"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Growth of an infectious agent in a culture derived from synovial fluid.","id":"HP:6000582","name":"Positive synonvial fluid culture","obsolete":false,"parents":["HP:6000581"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Demonstration of the presence of bacteria by gram staining of joint (synovial) fluid. The sample is generally obtained by arthrocentesis.","id":"HP:6000583","name":"Positive synovial fluid gram stain","obsolete":false,"parents":["HP:6000581"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of parvovirus.","id":"HP:6000584","name":"Anti Parvovirus antibody positivity","obsolete":false,"parents":["HP:0430059"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Tuberculoma results from hematogenous spread of Mycobacterium tuberculosis (M. tb) from an extracranial source. Diagnosis is based on computed tomography (CT) scan and magnetic resonance imaging (MRI) studies with a similar ring-enhancing lesion.","id":"HP:6000585","name":"Brain parenchymal tuberculoma","obsolete":false,"parents":["HP:0012443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in muscle tissue.","id":"HP:6000586","name":"Muscle arteriovenous malformation","obsolete":false,"parents":["HP:0100026"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Arteriovenous malformation in muscle"},{"scope":"EXACT","text":"Muscle AVM"}]} +{"alt_ids":[],"definition":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in a bone.","id":"HP:6000587","name":"Bone arteriovenous malformation","obsolete":false,"parents":["HP:0100026"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bone vascular malformation"}]} +{"alt_ids":[],"definition":"Lifting or separation of the periosteum from the outer surface of a bone. Periosteal elevation is usually seen in benign process, frequently in cranioencephalic traumas. There is an elevation of the periosteum after blood, like in cephalohematomas.","id":"HP:6000588","name":"Periosteal elevation","obsolete":false,"parents":["HP:0030313"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Widening (relatively uniform increase in diameter) of a segment of the esophagus.","id":"HP:6000589","name":"Esophageal dilation","obsolete":false,"parents":["HP:0002031"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A lipoma that is localized to the spine.","id":"HP:6000590","name":"Spinal lipoma","obsolete":false,"parents":["HP:0010302","HP:0012032"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Small fragments of articular cartilage that break off in a joint as a result of a injury, degeneration, or other processes.","id":"HP:6000591","name":"Loose body in joint","obsolete":false,"parents":["HP:0001367"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in adjacent to the spine, i.e., in a location that is normally occupied by muscles, ligaments, nerves, and other tissues that run alongside the spinal column.","id":"HP:6000592","name":"Paraspinal arteriovenous malformation","obsolete":false,"parents":["HP:0100026"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of an additional tarsal bone that is not one of the canonical tarsal bones (cuboid, medial, intermediate, and lateral cuneiform, navicular, talus, calcaneus).","id":"HP:6000593","name":"Supernumerary tarsal bone","obsolete":false,"parents":["HP:0001850"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Accessory tarsal bone"}]} +{"alt_ids":[],"definition":"A closed sac that has developed in the upper jaw bone (maxilla) and contains fluid or semi-solid material. Cystic lesions of the maxilla are benign entities with both odontogenic and non-odontogenic origins.","id":"HP:6000594","name":"Maxillary cyst","obsolete":false,"parents":["HP:0000326"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A closed sac that has developed in the lower jaw bone (mandibula) and contains fluid or semi-solid material.","id":"HP:6000595","name":"Mandibular cyst","obsolete":false,"parents":["HP:0000277"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of the six cranial nerve (abducens nerve).","id":"HP:6000596","name":"Sixth cranial nerve hypoplasia","obsolete":false,"parents":["HP:0011348"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of the third cranial nerve (oculomotor nerve).","id":"HP:6000597","name":"Third cranial nerve hypoplasia","obsolete":false,"parents":["HP:0025735"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence in the urine of succinylacetone, which is one of the toic block metabolites formed in tyrosinaemia type 1 because of a defect in the final enzyme of the pathway of the degradation of tyrosine, namely fumarylacetoacetase (FAH, EC 3.7.1.2).","id":"HP:6000598","name":"Elevated urinary succinylacetone level","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of 2-oxoisocaproic in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000599","name":"Elevated urinary 2-oxoisocaproic level","obsolete":false,"parents":["HP:0033097"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of 2-oxovaleric acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000600","name":"Elevated urinary 2-oxovaleric acid level","obsolete":false,"parents":["HP:0033456"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urinary alpha-ketovalerate level"}]} +{"alt_ids":[],"definition":"The amount of 2-hydroxyisocaproic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000601","name":"Elevated urinary 2-hydroxyisocaproic acid level","obsolete":false,"parents":["HP:0033097"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of isovalerylglycine in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000602","name":"Elevated urinary isovalerylglycine level","obsolete":false,"parents":["HP:0012073"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of 2-methyl-3-hydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000603","name":"Elevated urinary 2-methyl-3-hydroxybutyric acid level","obsolete":false,"parents":["HP:0033097"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of 3-hydroxypentanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000604","name":"Elevated urinary 3-hydroxypentanoic acid level","obsolete":false,"parents":["HP:0033303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of 7-hydroxyoctanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000605","name":"Elevated urinary 7-hydroxyoctanoic acid level","obsolete":false,"parents":["HP:0033303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of D-glyceric acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000606","name":"Elevated urinary D-glyceric acid level","obsolete":false,"parents":["HP:0031980"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of 3-hydroxyisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000607","name":"Elevated urinary 3-hydroxyisobutyric acid level","obsolete":false,"parents":["HP:0031980"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of 3,4-Dihydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000608","name":"Elevated urinary 3,4-Dihydroxybutyric acid level","obsolete":false,"parents":["HP:0010996"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of 3-hydroxyadipic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000609","name":"Elevated urinary 3-hydroxyadipic acid level","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urinary 3-hydroxyadipate level"}]} +{"alt_ids":[],"definition":"Concentration of galactose-1-phosphate in red blood cells (erythrocytes) above the upper level of normal.","id":"HP:6000610","name":"Elevated erythrocyte galactose-1-phosphate concentration","obsolete":false,"parents":["HP:0034737"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased activity or concentration of the enzyme chitotriosidase. Serum chitotriosidase is a biomarker that has shown high specificity and sensitivity in patients with sarcoidosis.","id":"HP:6000611","name":"Elevated circulating chitotriosidase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Premature closure of the squamosal suture, which is one of the lateral minor skull sutures, separating the parietal and squamous temporal bones.","id":"HP:6000612","name":"Squamosal suture synostosis","obsolete":false,"parents":["HP:0001363"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The size (volume) of the lungs of a fetus above the upper limit of normal for the gestational age.","id":"HP:6000613","name":"Enlarged fetal lungs","obsolete":false,"parents":["HP:0034243"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An inflammatory condition localized to the orbit, presenting capillary dilatation, leukocytic infiltration, redness, heat, and pain. CT or MIR Imaging demonstrates enlargement of the muscle belly of one (or more) extraocular muscles typically with the involvement of tendinous insertions. Inflammation can also be observed in surrounding tissues, including the orbital fat, lacrimal gland, and optic nerve sheath.","id":"HP:6000614","name":"Orbital inflammation","obsolete":false,"parents":["HP:0000315"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of inositol polyphosphate 5-phosphatase OCRL-1 as measured in cultured fibroblasts is below the limits of normal. This enzyme has phosphoinositide 5-phosphatase (EC 3.1.3.36) activity.","id":"HP:6000615","name":"Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of the gycogen debrancher enzyme (GDE) in muscle tissue is below the lower limit of normal. GDE is a large monomeric protein with two catalytic activities: amylo-1,6-glucosidase (EC 3.2.1.33) and 4-alpha-glucanotransferase (EC 2.4.1.25).","id":"HP:6000616","name":"Reduced muscle glycogen debrancher enzyme activity","obsolete":false,"parents":["HP:0034526"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of uridine diphosphate glucuronosyltransferase below the lower limit of normal. The activity of this enzyme can be measured in liver and rarely in other tissues.","id":"HP:6000617","name":"Reduced tissue UDP-glucuronyl-transferase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced liver uridine diphosphate glucuronosyltransferase activity"},{"scope":"EXACT","text":"Reduced tissue uridine diphosphate glucuronosyltransferase activity"}]} +{"alt_ids":[],"definition":"The presence of giant cells in the temporal artery. This is a feature of giant cell arteritis. Giant cells are multinucleated cells formed by fusion of multiple macrophages and are typically located in the intima of the arterial wall. This feature is typically demonstrated by temporal artery biopsy but other arteries may also be affected.","id":"HP:6000618","name":"Temporal artery giant cells","obsolete":false,"parents":["HP:0430104"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of phosphoenolpyruvate carboxykinase (EC 4.1.1.32) is below the lower limit of normal in cultured fibroblasts.","id":"HP:6000619","name":"Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of pyrroline hydroxycarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000620","name":"Elevated urinary pyrroline hydroxycarboxylic acid level","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urinary 3-hydroxy-L-1-pyrroline-5-carboxylate level"},{"scope":"EXACT","text":"Elevated urine L-delta1-pyrroline 3-hydroxy-5-carboxylate level"}]} +{"alt_ids":[],"definition":"Presence of N tau-ribosylhistidine (His-R) in the urine. His-R is a histidine derivative found in the urine of histidinemic patients.","id":"HP:6000621","name":"Elevated urinary N-tau-ribosylhistidine level","obsolete":false,"parents":["HP:0033097"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urinary N-ribosylhistidine level"}]} +{"alt_ids":[],"definition":"The amount of ureidoisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. Ureidoisobutyric acid is increased in the urine of patients with beta-ureidopropionase (EC 3.5.1.6) deficiency.","id":"HP:6000622","name":"Elevated urinary ureidoisobutyric acid level","obsolete":false,"parents":["HP:0033303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of N-carbamyl-beta-aminoisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000623","name":"Elevated urinary N-carbamyl-beta-aminoisobutyric acid level","obsolete":false,"parents":["HP:0033303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Malignant, intraepithelial adenocarcinoma cells of variable sizes usually large in size, present singly or in the form of small groups within the epidermis of the nipple. Cells may be ovoid, round, or signet-ring forms, usually mucin positive, and the cytoplasm may contain periodic acid-Schiff (PAS)-positive, diastase-resistant granules, indicating the presence of neutral mucopolysaccharides. The cells possess microscopic features of glandular cells with pale to clear vacuolated cytoplasm, and nuclei are usually high-grade with prominent nucleoli.","id":"HP:6000624","name":"Nipple epidermal Paget cells","obsolete":false,"parents":["HP:0004404"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Partial pressure of oxygen (pO2) in cavernous blood of the penis is below the lower limit of normal.","id":"HP:6000625","name":"Penile corporal blood gas ischemia","obsolete":false,"parents":["HP:0000036"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A history of an injury to the temporal region of the skull that occurred recently (several hours, days, or weeks before the current presenting complaint).","id":"HP:6000626","name":"Recent temporal region trauma","obsolete":false,"parents":["HP:4000144"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Rest pain is a continuous unrelenting pain due to ischemia of the lower leg, beginning with or being aggravated by elevation and being relieved by sitting with legs in a dependent position or by standing.","id":"HP:6000627","name":"Rest limb pain","obsolete":false,"parents":["HP:0025323"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Critical limb ischemia"}]} +{"alt_ids":[],"definition":"A lesion associated with pseudomyxoma peritonei whosetypical CT appearance is scalloping of the surface of the liver and spleen caused by loculated accumulations of mucin, which distinguishes mucin from fluid ascites. The mucinous material is similar in density to water. There are also islands of higher attenuation due to scattered solid elements and calcification within mucinous material.","id":"HP:6000628","name":"Scalloped appearance of liver surface","obsolete":false,"parents":["HP:0410042"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Scalloping of surface of liver and spleen"},{"scope":"EXACT","text":"Scalloping of the surface of the liver and spleen"}]} +{"alt_ids":[],"definition":"Thickening of the skin around the nipple.","id":"HP:6000629","name":"Nipple thickening","obsolete":false,"parents":["HP:0004404"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A breast mass visualized by sonography that displays a lower than normal echo signal (and this that appears dark gray in the typical ultrasound image).","id":"HP:6000630","name":"Hypoechoic breast mass","obsolete":false,"parents":["HP:0032408"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoechoic breast nodule"}]} +{"alt_ids":[],"definition":"An ovarian cyst without septa and a solid component.","id":"HP:6000631","name":"Unilocular ovarian cyst","obsolete":false,"parents":["HP:0000138"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Mesenteric torsion is a pathological rotation of the intestinal tract around the axis of the mesenteric root, resulting in rapid occlusion of the cranial mesenteric artery.","id":"HP:6000632","name":"Mesenteric torsion","obsolete":false,"parents":["HP:0100016"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal bowel sounds of an unually high frequency.","id":"HP:6000633","name":"High-pitched bowel sounds","obsolete":false,"parents":["HP:0030142"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applied to a sign orr symptom that is worsed by administration of opiate medications.","id":"HP:6000634","name":"Exacerbated by opiate medication","obsolete":false,"parents":["HP:4000176"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Formation of a non-necrotizing granuloma in breat tissue typically in combination with a localized infiltrate of multi-nucleated giant cells, epithelioid histiocytes, lymphocytes, and plasma cells.","id":"HP:6000635","name":"Breast granuloma","obsolete":false,"parents":["HP:5210340"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Granulomatous mastitis"}]} +{"alt_ids":[],"definition":"A history of exposure to fragrances found in cosmetic products.","id":"HP:6000636","name":"Exposure to cosmetic fragrances","obsolete":false,"parents":["HP:4000110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Sweating and flushing in the preauricular area in response to mastication or a salivary stimulus. Facial warmth, flushing, and sweating in the territory of the auriculotemporal nerve overlying the parotid gland, which may include the preauricular skin, the temporal skin, the scalp, and the temporomandibular joint region. Symptoms occur during meals, especially with spicy and sour foods. This feature is inferred to be a consequence of injury to the auriculotemporal nerve, a branch if the trigeminal nerve.","id":"HP:6000637","name":"Sweating and flushing in the preauricular area in response to mastication","obsolete":false,"parents":["HP:0031911"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Frey syndrome"}]} +{"alt_ids":[],"definition":"Activity of glyoxylate reductase/hydroxypyruvate reductase (GRHPR; EC 1.1.1.79) in liver below the lower limit of normal.","id":"HP:6000638","name":"Reduced hepatic glyoxylate reductase activity","obsolete":false,"parents":["HP:0034685"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced hepatic hydroxypyruvate reductase activity"}]} +{"alt_ids":[],"definition":"Presence of lymphocytes with positive staining for periodic acid-Schiff (PAS) cytoplasmic vacuoles.","id":"HP:6000639","name":"PAS-positive lymphocyte vacuolization","obsolete":false,"parents":["HP:0001922"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bone marrow with increased numbers of macrophages heavily laden with lipids.","id":"HP:6000640","name":"Lipid-laden bone-marrow macrophages","obsolete":false,"parents":["HP:0005561"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased count of monocytes in the bone marrow.","id":"HP:6000641","name":"Bone marrow monocytosis","obsolete":false,"parents":["HP:0005561"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bone marrow monocytes increased"}]} +{"alt_ids":[],"definition":"Sunflower cataract (SC) is a type of anterior subcapsular cataract almost only seen in Wilson disease, an autosomal-recessive condition with a defect in the metabolism of copper leading to accumulation of copper in the liver and basal ganglia. SC consists of a thin, centralized opacification that is located directly under the anterior capsule and encompasses between one-third and one-half of the anterior lens pole surface area. In all cases, the central opacification is surrounded by additional, secondary opacifications arranged in ray-like structures around it. This pattern is said to resemble a sunflower, with a large central disk surrounded by petals.","id":"HP:6000642","name":"Sunflower cataract","obsolete":false,"parents":["HP:0010923"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against lamin A.","id":"HP:6000643","name":"Anti-lamin A antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"LMNA antibody positivity"},{"scope":"EXACT","text":"PCNA antibody positivity"},{"scope":"EXACT","text":"Prelamin A antibody positivity"},{"scope":"EXACT","text":"ki-67 antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the blood circulation that react against human lamin C.","id":"HP:6000644","name":"Anti-lamin C antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prelamin C antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against vinculin.","id":"HP:6000645","name":"Anti-vinculin antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin A5.","id":"HP:6000646","name":"Anti-annexin A5 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An outward curving of a fontanelle, which occurs when fluid builds up in the brain or the brain swells, causing increased pressure inside the skull.","id":"HP:6000647","name":"Bulging fontanelle","obsolete":false,"parents":["HP:0011328"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tense fontanelle"}]} +{"alt_ids":[],"definition":"A soft tissue continuity in the anteroposterior axis between the toes 3 and 4.","id":"HP:6000648","name":"3-4 toe cutaneous syndactyly","obsolete":false,"parents":["HP:0010621"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Nail so wide as long with a distal part presenting an acute angle.","id":"HP:6000649","name":"Triangular nail","obsolete":false,"parents":["HP:0025755"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triangular shaped nail"}]} +{"alt_ids":[],"definition":"Fusion of the distal (i.e.., located away from the trunk) part of the tibia and fibula.","id":"HP:6000650","name":"Distal tibiofibular synostosis","obsolete":false,"parents":["HP:0005928","HP:0005929"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Distal tibial and fibular fusion"}]} +{"alt_ids":[],"definition":"Any abnormal process of ossification of the metacarpal bones, which normally are each ossified from two centers: one for the body, and one for the head (metacarpal II,III,IV, and V) and one for the body and one for the base (metacarpal I). At the eighth to ninth week of fetal life, ossification commences in the middle of the body. At the third year the distal extremities of the metacarpals of the fingers and the base of the metacarpal of the thumb begin to ossify; they unite with the bodies at about the twentieth year.","id":"HP:6000651","name":"Abnormal metacarpal ossification","obsolete":false,"parents":["HP:0005916","HP:0010660"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal maturation of long bone of hand"},{"scope":"EXACT","text":"Abnormal ossification involving metacarpal bones"}]} +{"alt_ids":[],"definition":"A bony projection (spur, osteophyte) originating from a rib.","id":"HP:6000652","name":"Rib spur","obsolete":false,"parents":["HP:0000772"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deficient mineralization of the iliac wings, giving a paraglider/crescent shape to the iliac bone.","id":"HP:6000653","name":"Crescent-shaped iliac bone","obsolete":false,"parents":["HP:0002867"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Crescent-shaped iliac wing"},{"scope":"EXACT","text":"Paraglider shape iliac bone"}]} +{"alt_ids":[],"definition":"An abnormality of the formation and mineralization of ischial bones.","id":"HP:6000654","name":"Abnormal ischium ossification","obsolete":false,"parents":["HP:0003174"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal ossification of the ischium"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the neck of femur.","id":"HP:6000655","name":"Femoral neck fracture","obsolete":false,"parents":["HP:0031846"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broken femoral neck"},{"scope":"EXACT","text":"Fractured neck of femur"}]} +{"alt_ids":[],"definition":"Accumulation of eosinophilic hyaline material observed around the papillary dermis and the blood vessels located in it. The papillary dermis is the uppermost layer of the dermis. It intertwines with the rete ridges of the epidermis and is composed of fine and loosely arranged collagen fibers.","id":"HP:6000656","name":"Papillary dermis eosinophilic hyaline material","obsolete":false,"parents":["HP:0034924"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Intraductal papillary mucinous neoplasm (IPMN) is an exocrine neoplasm of the pancreas consisting of epithelial cells growing within the pancreatic ducts (main pancreatic duct or its major branches) and producing mucin. IPMN is a mucin-producing pancreatic cystic tumor. IPMN contains epithelial cells that can create papillary projections.","id":"HP:6000657","name":"Pancreatic intraductal papillary mucinous neoplasm","obsolete":false,"parents":["HP:0002894"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of vasculitis (inflammation of blood vessel walls) that affects medium-sized blood vessels. By common usage, vasculitis predominantly refers to arterial disease. Medium-sized vasculitis is observed in diseases including polyarteritis nodosa, Kawasaki disease, and cutaneous polyarteritis nodosa.","id":"HP:6000658","name":"Medium vessel vasculitis","obsolete":false,"parents":["HP:0034784"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Medium-size-vessel vasculitis"}]} +{"alt_ids":[],"definition":"A decreased amount of laminin alpha-5 in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue. Laminin subunit alpha-5 is a protein encoded by the LAMA5 gene.","id":"HP:6000659","name":"Elevated muscle fiber laminin alpha 5 expression","obsolete":false,"parents":["HP:0030089"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A swelling or enlargement localized next to the vertebral column. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.","id":"HP:6000660","name":"Paravertebral mass","obsolete":false,"parents":["HP:0000925"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A calcified structure that forms within a vein. The pathogenesis of phleboliths is thought to involve an organized thrombus produced when the peripheral blood flow slows. The thrombus calcifies, form- ing the core of the phlebolith. Then, the fibrinous com- ponent undergoes secondary calcification and becomes attached. Repetition of this process causes enlargement of the phlebolith.","id":"HP:6000661","name":"Phlebolith","obsolete":false,"parents":["HP:0001977"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A perforation in the wall of the urinary bladder. Bladder rupture, a relatively rare condition, is most commonly due to abdominal or pelvic trauma but may be spontaneous or iatrogenic in association with surgical or endoscopic procedures. In most cases, patients with bladder rupture have gross hematuria. Other symptoms of bladder rupture include pelvic pain, lower abdominal pain, and difficulty voiding.","id":"HP:6000662","name":"Bladder rupture","obsolete":false,"parents":["HP:0025487"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased amount of iron in myocardial tissue.","id":"HP:6000663","name":"Elevated myocardial iron load","obsolete":false,"parents":["HP:0001637"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cardiac iron overload"},{"scope":"EXACT","text":"MRI: heart iron content increased"}]} +{"alt_ids":[],"definition":"The occurrence of abnormal or absent contractility of a region of the heart muscle of the right ventricule. Conventional assessment of RWMA is based on visual interpretation of endocardial excursion and myocardial thickening from the echocardiogram videos.","id":"HP:6000664","name":"Right ventricular regional wall motion abnormality","obsolete":false,"parents":["HP:0033118"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A region of the right ventricle exhibits absent contraction (akinesia) compared to the rest of the ventricle.","id":"HP:6000665","name":"Right ventricular regional akinesia","obsolete":false,"parents":["HP:0033118"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A region of the right ventricle exhibits abnormal contraction (dyskinesia) compared to the rest of the ventricle, leading to outward bulging or ballooning during contraction or inadequate inward movement.","id":"HP:6000666","name":"Right ventricular regional dyskinesia","obsolete":false,"parents":["HP:0033118"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A localized, abnormal dilation or bulging of a portion of the right ventricular wall.","id":"HP:6000667","name":"Right ventricular aneurysm","obsolete":false,"parents":["HP:0001707"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Right ventricular outpouching"}]} +{"alt_ids":[],"definition":"Accumulation of immune deposits, containing immunoglobulins, complement, and other proteins, at various intraglomerular locations. This can lead to glomerulonephritis, with the type of injury that results being dependent on four factors: the mechanism of the deposit formation, the site of deposit formation, the composition of the deposits and the amount of the deposits.","id":"HP:6000668","name":"Glomerular immune-complex deposition","obsolete":false,"parents":["HP:0000095"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of immune deposits, containing auto-antibodies against the podocyte antigen M-type phospholipase A2 receptor (PLA2R) in intraglomerular locations.","id":"HP:6000669","name":"Glomerular PLA2R immune-complex deposition","obsolete":false,"parents":["HP:0000095"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of L-glycerate in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000670","name":"Elevated urinary L-glycerate level","obsolete":false,"parents":["HP:0033303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A rare, benign mesenchymal tumor of the breast characterized histologically by stellate, round, and spindle-shaped cells with vesicular nuclei and scant cytoplasm that are scattered in the myxoid stroma.","id":"HP:6000671","name":"Breast myxoma","obsolete":false,"parents":["HP:0100013"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A common, benign ovarian tumor that carries a good prognosis. The two most frequent types of cystadenomas are serous and mucinous cystadenomas whereas endometrioid and clear cell cystadenomas are rare.","id":"HP:6000672","name":"Ovarian cystadenoma","obsolete":false,"parents":["HP:0100615"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF).","id":"HP:6000673","name":"Abnormal CSF N-acetylaspartic acid concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urine 2-betanone level"}]} +{"alt_ids":[],"definition":"Concentration of N-acetylaspartic acid in the cerebrospinal fluid below the lower limit of normal.","id":"HP:6000674","name":"Decreased CSF N-acetylaspartic acid concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased CSF N-acetylaspartate acid concentration"},{"scope":"EXACT","text":"N-acetylaspartate absent in CSF"}]} +{"alt_ids":[],"definition":"The amount of mevalonate lactone in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000675","name":"Elevated urinary mevalonate lactone level","obsolete":false,"parents":["HP:0033354"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the serum that react to von Willebrand factor (VWF).","id":"HP:6000676","name":"Anti-von Willebrand factor antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The absolute count of natural killer cells in the blood, per microlitre, is above the upper limit of normal.","id":"HP:6000677","name":"Increased total natural killer cell count","obsolete":false,"parents":["HP:0040089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated natural killer cell count"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that display a high degree of specificity for idiopathic inflammatory myopathy (myositis-specific autoantibodies (MSAs)). MSAs are clinically useful biomarkers to help the diagnosis of polymyositis/dermatomyositis (PM/DM). Many of these are also associated with a unique clinical subset of PM/DM, making them useful in predicting and monitoring certain clinical manifestations.","id":"HP:6000678","name":"Myositis-specific autoantibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal range of the serum osmolality, defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea.","id":"HP:6000679","name":"Abnormal serum osmolality","obsolete":false,"parents":["HP:0011032"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Serum osmolality, which is defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea, is below the lower limit of normal.","id":"HP:6000680","name":"Low serum osmolality","obsolete":false,"parents":["HP:6000679"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Serum osmolality, which is defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea, is above the upper limit of normal.","id":"HP:6000681","name":"High serum osmolality","obsolete":false,"parents":["HP:6000679"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A past medical history of having been treated with tight bandages, compression sleeve, tight casts or splints, immobilizers, or similar items such as overly tight clothes, watch bands, or handcuffs.","id":"HP:6000682","name":"History of compressive dressings","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is induced by repeatedly performing overhead motions, such as painting a ceiling or working on objects located above the head, or some types of athletics.","id":"HP:6000683","name":"Triggered by overhead motions","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triggered by overhead activity"}]} +{"alt_ids":[],"definition":"Pain that is perceived to extend or spread out from one area of the body to another.","id":"HP:6000684","name":"Radiating pain","obsolete":false,"parents":["HP:0025280"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Opening snap is an additional sound heard in the diastole that is related to the opening of a stenotic but mobile mitral valve. It is described as an early diastolic, high-pitched sound, which is associated with opening of the mitral and/or tricuspid valve.","id":"HP:6000685","name":"Mitral opening snap","obsolete":false,"parents":["HP:0031657"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally increased amount of mucus in the feces. Mucus is a slippery aqueous secretion produced by mucous membranes including those of the intestines.","id":"HP:6000686","name":"Mucus in stool","obsolete":false,"parents":["HP:0031685"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of C-C Motif Ligand 3 (CCL3) in the blood circulation is above the upper limit of normal.","id":"HP:6000687","name":"Elevated circulating CCL3 concentration","obsolete":false,"parents":["HP:6000446"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of C-C Motif Ligand 4 (CCL4) in the blood circulation is above the upper limit of normal.","id":"HP:6000688","name":"Elevated circulating CCL4 concentration","obsolete":false,"parents":["HP:6000446"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of 14-3-3 protein in the cerebrospinal fluid (CSF) is above the upper limit of normal.","id":"HP:6000689","name":"Elevated CSF 14-3-3 protein concentration","obsolete":false,"parents":["HP:6000205"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of dihydrobiopterin in the cerebrospinal fluid (CSF) above the upper limit of normal.","id":"HP:6000690","name":"Elevated CSF dihydrobiopterin concentration","obsolete":false,"parents":["HP:0040207"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Atrial fibrosis is an hallmark of atrial structural remodelling, characterized by the aberrant activation, proliferation and differentiation of fibroblasts, and subsequent excessive synthesis and irregular deposition of extracellular matrix proteins.","id":"HP:6000691","name":"Left atrial fibrosis","obsolete":false,"parents":["HP:0025579"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal concentration of proANP (atrial natriuretic peptide pro-hormone) in the blood circulation.","id":"HP:6000692","name":"Abnormal circulating proANP concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of NT-proANP (= N-terminal proatrial natriuretic peptide) in the blood circulation is below the lower limit of normal.","id":"HP:6000693","name":"Decreased circulating NT-proANP concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced long-acting natriuretic peptide concentration"}]} +{"alt_ids":[],"definition":"The concentration of delta-1-pyrroline-5-carboxylate in the blood circulation is above the upper limit of normal.","id":"HP:6000694","name":"Elevated circulating 1-pyrroline-5-carboxylic acid concentration","obsolete":false,"parents":["HP:0010996"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating delta-1-pyrroline-5-carboxylate concentration"}]} +{"alt_ids":[],"definition":"Concentration or activity of delta-1-pyrroline-5-carboxylate dehydrogenase (P5CDH; EC 1.5.1.12) below the lower limit of normal. P5CDH can be measured in multiple tissues including leukocytes and cultured fibroblasts. P5CDH is a mitochondrial matrix NAD(+)-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate.","id":"HP:6000695","name":"Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of N-carbamyl-beta-aminoisobutyric acid in the blood circulation is above the upper limit of normal.","id":"HP:6000696","name":"Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration","obsolete":false,"parents":["HP:0010996"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of Ferrochelatase (FECH; EC 4.99.1.1) below the lower limit of normal. FECH enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. FECH is the terminal enzyme of the heme biosynthetic pathway, and catalyzes the insertion of iron into protoporphyrin to form heme.","id":"HP:6000697","name":"Low tissue ferrochelatase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of heptacarboxylporphyrin in the blood circulation is above the upper limit of normal.","id":"HP:6000698","name":"Elevated circulating heptacarboxylporphyrin concentration","obsolete":false,"parents":["HP:0034606"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applied to a sign or symptom that is more severe during mensutruation.","id":"HP:6000699","name":"Aggravated by menstruation","obsolete":false,"parents":["HP:0025285"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of zinc in breast milk is below the lower limit of normal.","id":"HP:6000700","name":"Reduced breast milk zinc concentration","obsolete":false,"parents":["HP:0032243"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:6000523"],"definition":"The amount of bile acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000701","name":"Elevated urinary bile acid level","obsolete":false,"parents":["HP:0031980"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased urinary bile acid level"}]} +{"alt_ids":[],"definition":"The amount of glyoxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal. The conjugate base of glyoxylic acid is known as glyoxylate.","id":"HP:6000702","name":"Elevated urinary glyoxylic acid level","obsolete":false,"parents":["HP:0033303"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urinary alpha-ketoacetic acid level"},{"scope":"EXACT","text":"Elevated urinary glyoxylate level"},{"scope":"EXACT","text":"Elevated urinary oxoacetic acid level"}]} +{"alt_ids":[],"definition":"The concentration of 3-hydroxyanthranilic acid in the blood circulation is above the upper limit of normal.","id":"HP:6000703","name":"Elevated circulating 3-hydroxyanthranilic acid concentration","obsolete":false,"parents":["HP:0033108"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of chemokine (C-X-C motif) ligand 9 in the blood circulation is above the upper limit of normal.","id":"HP:6000704","name":"Elevated circulating CXCL9 concentration","obsolete":false,"parents":["HP:0011112"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating monokine induced by gamma-interferon concentration"}]} +{"alt_ids":[],"definition":"Abnormal increase in the thickness (distance between the inner and outer boundaries) of the outer layer (cortex) of the fibula.","id":"HP:6000705","name":"Thickened fibular cortex","obsolete":false,"parents":["HP:0000935","HP:0002991"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad cortex of fibula"},{"scope":"EXACT","text":"Cortical thickening of the fibula"},{"scope":"EXACT","text":"Thickened cortex of the fibula"},{"scope":"EXACT","text":"Thickened cortices of fibula"}]} +{"alt_ids":[],"definition":"Medical history of starting a new medication recently.","id":"HP:6000706","name":"New medication added in recent weeks","obsolete":false,"parents":["HP:4000144"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pain at night.","id":"HP:6000707","name":"Noctural pain","obsolete":false,"parents":["HP:0025280"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal increase of bone mineral density of the femur. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:6000708","name":"Femoral osteosclerosis","obsolete":false,"parents":["HP:0002823","HP:0011001"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Osteosclerosis of the femur"}]} +{"alt_ids":[],"definition":"The Bell phenomenon is the reflex upward movement of the front of the eyeball when the eyelids close (or blink). It protects the eye by helping to keep the cornea moist. This term refers to a lack of this phenomenon, which can be observed with certain conditions such as congenital fibrosis of the extraocular muscles.","id":"HP:6000709","name":"Absent Bell phenomenon","obsolete":false,"parents":["HP:0012547"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Absent palpebral-oculogyric reflex"}]} +{"alt_ids":[],"definition":"Nodules (yellow-white subretinal pigment epithelium lesions) that form between Bruch membrane and the retinal pigment epithelium.","id":"HP:6000710","name":"Dalen-Fuchs nodules","obsolete":false,"parents":["HP:0030506"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dalen Fuchs nodules"}]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about by trauma to the eye.","id":"HP:6000711","name":"Triggering by ocular trauma","obsolete":false,"parents":["HP:0031135"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Deposition of amyloid material in the subepithelial space of the cornea.","id":"HP:6000712","name":"Gelatinous drop-like dystrophic cornea","obsolete":false,"parents":["HP:0001131"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal accumulation of iron in reticuloendothelial cells of the liver. This feature can be appreciated on liver biopsy by Perls iron stain for granular iron deposition, based on agreement that only discernible hemosiderin granules represent significant iron deposition.","id":"HP:6000713","name":"Hepatic reticuloendothelial system cell iron deposition","obsolete":false,"parents":["HP:0040134"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lower than normal amount of kindlin-1 in the epidermis.","id":"HP:6000714","name":"Reduced epidermal kindlin-1 expression","obsolete":false,"parents":["HP:0034573"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign proliferative and asymptomatic intraosseous lesion of the jaw formed by fibrous tissue that contains multiple focus of hemorrhage and an aggregation of multinucleated giant cells.","id":"HP:6000715","name":"Central giant cell lesion of the jaw","obsolete":false,"parents":["HP:0030791"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of Hepatic venous outflow obstruction characterized by fibrous concentric narrowing of zone 3 terminal hepatic venules, centrilobular hepatocyte necrosis, and sinusoidal congestion, accomapnied by necrosis of pericentral hepatocytes, and narrowing and eventual fibrosis of central veins.","id":"HP:6000716","name":"Terminal hepatic lobular vascular occlusion","obsolete":false,"parents":["HP:0006707"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hepatic sinusoidal obstruction syndrome"},{"scope":"EXACT","text":"Hepatic veno-occlusive disease"}]} +{"alt_ids":[],"definition":"During neurodegeneration, bubble-like swellings form along the length of the axon, a primary and early effect of dynamic axonal deformation. These varicosities, spheroids, or swellings have been described as beads on a string and branches bearing fruit, and they frequently appear on degenerating axons.","id":"HP:6000717","name":"Axonal spheroids","obsolete":false,"parents":["HP:0012757"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Amount of bile salt export pump (BSEP, coded by the ABCB11 gene) in liver tissue below the lower limit of normal.","id":"HP:6000718","name":"Decreased liver bile salt export pump expression","obsolete":false,"parents":["HP:0034644"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of type II iodothyronine deiodinase below the lower limit of normal. The activity can be measured in tissues such as cultured fibroblasts.","id":"HP:6000719","name":"Reduced tissue type II iodothyronine deiodinase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of fatty aldehyde dehydrogenase (EC 1.2.1.3) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts and leukocytes.","id":"HP:6000720","name":"Reduced tissue fatty aldehyde dehydrogenase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The activity of alpha-Amylase (1,4-alpha-D-glucan-4-glucanohydrolase E. C. 3.2.1.1, pancreatic isoamylase) in the blood circulation is below the lower limit of normal.","id":"HP:6000721","name":"Decreased circulating pancreatic isoamylase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of the mitochondrial enzyme guanidinoacetate methyltransferase in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts.","id":"HP:6000722","name":"Reduced tissue guanidinoacetate methyltransferase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity or concentration of in the level of galactokinase (EC 2.7.1.6) in erythrocytes below the lower limit of normal.","id":"HP:6000723","name":"Reduced erythrocyte galactokinase activity","obsolete":false,"parents":["HP:0030272"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The appearance of small bleeding points after successive layers of scale have been removed from the surface of psoriatic papules or plaques.","id":"HP:6000724","name":"Auspitz sign","obsolete":false,"parents":["HP:0011122"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Skin tastes marked salty without an obvious explanation such as heat or exercise. This finding can be observed in infants with cystic fibrosis.","id":"HP:6000725","name":"Salty tasting skin","obsolete":false,"parents":["HP:0011122"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A small firm lump located in the skin of the scalp that is greater than one cm in diameter.","id":"HP:6000726","name":"Scalp nodule","obsolete":false,"parents":["HP:0001965"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Scalp nodules"}]} +{"alt_ids":[],"definition":"A history of ingestion of undercooked pork. This is particularly relevant in areas with a high prevalence of cysticercosis.","id":"HP:6000727","name":"History of undercooked pork ingestion","obsolete":false,"parents":["HP:4000123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A history of exposed to rodents (mice, rats, prarie dogs) within several weeks of the current presenting complaint.","id":"HP:6000728","name":"History of recent rodent exposure","obsolete":false,"parents":["HP:4000144"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any kind of test for a fungal infectious agent in the cerebrospinal fluid (CSF) positive.","id":"HP:6000729","name":"Positive CSF fungus test","obsolete":false,"parents":["HP:0430123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the cerebrospinal fluid (CSF) that react against a component of human T-lymphotropic virus type I.","id":"HP:6000730","name":"Positive CSF human T-lymphotropic virus type I antibody positivity","obsolete":false,"parents":["HP:0430139"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive CSF HTLV-1 antibody positivity"}]} +{"alt_ids":[],"definition":"Detection of Chlamydia trachomatis nucleic acid in the urine by a method such as polymerase chain reaction.","id":"HP:6000731","name":"Positive chlamydia trachomatis urine nucleic acid test","obsolete":false,"parents":["HP:0034889"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against streptococcal deoxyribonuclease-B (ADN-B). Almost all group A streptococci have this antigen and a strong elevation of the antibody is observed in patients with acute rheumatic fever, acute glomerulonephritis and other streptococcal infections.","id":"HP:6000732","name":"Anti-streptococcus deoxyribonuclease-B antibody positivity","obsolete":false,"parents":["HP:0430061"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Positive detection of a group A streptococcal antigen in a test perforned on a throat swab.","id":"HP:6000733","name":"Positive streptococcus A rapid antigen detection test","obsolete":false,"parents":["HP:6000579"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Growth of a mycobacteria in a culture derived from synovial fluid.","id":"HP:6000734","name":"Positive synovial mycobacterial culture","obsolete":false,"parents":["HP:6000582"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of nucleic acid of mycobacteria in the synovial fluid by a method such as polymerase chain reaction (PCR).","id":"HP:6000735","name":"Positive mycobacterial synovial nucleic acid test","obsolete":false,"parents":["HP:6000581"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of nucleic acid of genus Babesia (parasite) in the blood circulation by a method such as polymerase chain reaction (PCR).","id":"HP:6000736","name":"Positive bloodstream babesia nucleic acid pathogen test","obsolete":false,"parents":["HP:0430067"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of nucleic acid of an influenza virus in the blood circulation by a method such as polymerase chain reaction (PCR).","id":"HP:6000737","name":"Positive bloodstream influenza nucleic test","obsolete":false,"parents":["HP:0430067"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of nucleic acid of parainfluenza virus in the blood circulation by a method such as polymerase chain reaction (PCR).","id":"HP:6000738","name":"Positive bloodstream parainfluenza virus nucleic acid test","obsolete":false,"parents":["HP:0430067"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of nucleic acid of an adenovirus in the blood circulation by a method such as polymerase chain reaction (PCR).","id":"HP:6000739","name":"Positive bloodstream adenovirus nucleic acid test","obsolete":false,"parents":["HP:0430067"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of Francisella tularensis.","id":"HP:6000740","name":"Anti-Francisella tularensis antibody positivity","obsolete":false,"parents":["HP:0430061"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of nucleic acid of Middle East Respiratory Syndrome coronavirus (MERS-CoV) in the blood circulation by a method such as polymerase chain reaction (PCR).","id":"HP:6000741","name":"Positive bloodstream MERS coronavirus nucleic acid test","obsolete":false,"parents":["HP:0430067"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of nucleic acid of Corynebacterium diphtheriae in nasopharyngeal secretions by a method such as polymerase chain reaction (PCR).","id":"HP:6000742","name":"Positive nasopharyngeal corynebacterium diphtheriae nucleic acid test","obsolete":false,"parents":["HP:6000579"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Visualization of at least one louse on visual inspection of the head hair. Use of a bright light, magnifying lens, or fine-toothed comb (lice comb) can aid in diagnosis.","id":"HP:6000743","name":"Pediculosis capitis","obsolete":false,"parents":["HP:0430117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence in the skin of the glabellar region of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms.","id":"HP:6000744","name":"Premature glabellar skin wrinkling","obsolete":false,"parents":["HP:0002056","HP:0100678"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hyperpigmented macules with a reticulate (net-like) pattern involving the neck, axillae, groins, and other flexures like the inframammary folds in females. Histopathology shows orthokeratosis or hyperkeratosis, thinning of the suprapapillary epithelium, elongation of the rete ridges, hyperpigmentation of the basal layer, and follicular cysts. A perivascular lymphohistiocytic infiltrate can be observed in the papillary dermis.","id":"HP:6000745","name":"Flexural reticulate hyperpigmentation","obsolete":false,"parents":["HP:0007427"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reticular pigmented anomaly of the flexures"},{"scope":"EXACT","text":"Reticulate hyperpigmentation of the flexures"}]} +{"alt_ids":[],"definition":"Abnormally increased proportion of filtered urate that is excreted in the urine as calculated using the concentrations of urate and creatinine in both blood and urine. Clinically this manifests as uric acid wasting.","id":"HP:6000746","name":"Elevated fractional excretion of urate","obsolete":false,"parents":["HP:0011036"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uric acid wasting"}]} +{"alt_ids":[],"definition":"The amount of creatine in the urine, normalized for urine concentration, is outside the limits of normal.","id":"HP:6000747","name":"Abnormal urinary creatine level","obsolete":false,"parents":["HP:6000531"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of creatine in the urine, normalized for urine concentration, is below the lower limit of normal.","id":"HP:6000748","name":"Decreased urinary creatine level","obsolete":false,"parents":["HP:6000531"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of PINP (= aminoterminal propeptide of type I procollagen) in the blood circulation is above the upper limit of normal.","id":"HP:6000749","name":"Elevated circulating PINP concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of S-adenosylhomocysteine hydrolase (EC 3.3.1.1) below the lower limit of normal. FECH enzyme can be measured in multiple tissues including erythrocytes and liver.","id":"HP:6000750","name":"Decreased tissue S-adenosylhomocysteine hydrolase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of dopamine in the urine, normalized for urine concentration, is below the lower limit of normal.","id":"HP:6000751","name":"Decreased urinary dopamine level","obsolete":false,"parents":["HP:0045012"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of 5-amino-4-imidazolecarboxamide (AICA-riboside) in red blood cells is above the upper limit of normal.","id":"HP:6000752","name":"Elevated erythrocyte AICA-ribotide concentration","obsolete":false,"parents":["HP:0034737"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of monomethylsterols (such as 4alpha-monomethylsterol) in the blood circulation above the upper limit of normal.","id":"HP:6000753","name":"Elevated circulating monomethyl sterol concentration","obsolete":false,"parents":["HP:0003119"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of dimethylsterols in the blood circulation is above the upper limit of normal.","id":"HP:6000754","name":"Elevated circulating dimethyl sterol concentration","obsolete":false,"parents":["HP:0003119"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of the C-terminal portion of fibroblast growth factor 23 in the blood circulation is outside of the limits of normal.","id":"HP:6000755","name":"Elevated circulating C-terminal fibroblast growth factor 23 concentration","obsolete":false,"parents":["HP:6000489"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of 5-hydroxyindoleacetic acid (5-HIAA) in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000756","name":"Elevated urinary 5-hydroxyindoleacetic acid level","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of thiosulfate in the blood circulation is above the upper limit of normal.","id":"HP:6000757","name":"Elevated circulating thiosulfate concentration","obsolete":false,"parents":["HP:0020330"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of interleukin 1 receptor antagonist (IL-1RA) in the blood circulation is above the upper limit of normal.","id":"HP:6000758","name":"Elevated circulating interleukin 1 receptor antagonist concentration","obsolete":false,"parents":["HP:0011111"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of West Nile virus nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.","id":"HP:6000759","name":"Positive CSF West Nile virus nucleic acid test","obsolete":false,"parents":["HP:0430140"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of herpes simplex virus (HSV) nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.","id":"HP:6000760","name":"Positive CSF herpes simplex virus nucleic acid test","obsolete":false,"parents":["HP:0430140"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A test result demonstrating the presence of a cryptococal antigen in the cerebrospinal fluid (CSF).","id":"HP:6000761","name":"Positive CSF cryptococcal antigen test","obsolete":false,"parents":["HP:0430123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Growth of rubella virus in a culture derived from cerebrospinal fluid (CSF).","id":"HP:6000762","name":"Positive rubella CSF culture","obsolete":false,"parents":["HP:0430123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of Treponema pallidum (syphillis) nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.","id":"HP:6000763","name":"Positive CSF treponema pallidum nucleic acid test","obsolete":false,"parents":["HP:0430140"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of tetrahydrobiopterin in the cerebrospinal fluid (CSF) below the lower limit of normal.","id":"HP:6000764","name":"Decreased CSF tetrahydrobiopterin level","obsolete":false,"parents":["HP:0040207"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of N-acetyl-aspartyl-glutamate (NAAG) in the cerebrospinal fluid (CSF) is below the lower limit of normal.","id":"HP:6000765","name":"Decreased CSF N-acetyl-aspartyl-glutamate concentration","obsolete":false,"parents":["HP:0025456"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Demonstration of Tropheryma whipplei bacteria in the cerebrospinal fluid (CSF) my microscopic analysis.","id":"HP:6000766","name":"Positive CSF Tropheryma whipplei bacteria microscopy","obsolete":false,"parents":["HP:0430123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the cerebrospinal fluid (CSF) that react against a component of treponema pallidum (syphilis).","id":"HP:6000767","name":"CSF treponemal antibody positivity","obsolete":false,"parents":["HP:0430139"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive CSF Treponema pallidum hemoagglutination assay"},{"scope":"EXACT","text":"Positive CSF Treponema pallidum particle agglutination test"},{"scope":"EXACT","text":"Positive CSF fluorescent treponemal antibody absorption"}]} +{"alt_ids":[],"definition":"A stimulus triggered repetition of an action (echopraxia) or sound (echolalia) performed without the explicit awareness of an individual.","id":"HP:6000768","name":"Echophenomenon","obsolete":false,"parents":["HP:0000708"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased autofluorescence in areas adjacent to the central macula (but not including the very center).","id":"HP:6000769","name":"Paracentral hyper-autofluorecence","obsolete":false,"parents":["HP:0030602"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A condition in which the limbs of a fetus are immobile or held in a rigid position. The limbs are consistently immobile and rigid. Fixed extremities can be observed during prenatal imaging (e.g., ultrasound).","id":"HP:6000770","name":"Fixed fetal extremities","obsolete":false,"parents":["HP:0034059"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The density of the deep peripapillary microvascular network (i.e., the number of blood vessels) is below the lower limit of normal. This finding is observable by optical coherence tomography angiography.","id":"HP:6000771","name":"Abnormal peripapillary microvascular network","obsolete":false,"parents":["HP:0012795"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the skin and soft tissues of the outer ear.","id":"HP:6000772","name":"Auriculitis","obsolete":false,"parents":["HP:0000377"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Auricular inflammation"}]} +{"alt_ids":[],"definition":"A recent history of being exposed to moisture in the external ear canal.","id":"HP:6000773","name":"Recent history of moisture in external ear canal","obsolete":false,"parents":["HP:4000144"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Medical history of trauma to the external ear canal, including cotton-swab use, in recent weeks.","id":"HP:6000774","name":"History of recent trauma to external ear canal","obsolete":false,"parents":["HP:4000144"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of 4-tyramine in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000775","name":"Elevated urinary 4-tyramine level","obsolete":false,"parents":["HP:0040416"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of 3-hydroxykynurenine in the blood circulation is above the upper limit of normal.","id":"HP:6000776","name":"Elevated circulating 3-hydroxykynurenine concentration","obsolete":false,"parents":["HP:0003312","HP:0033109"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Exaggerated posterior vertebral notches.","id":"HP:6000777","name":"Posterior vertebral body notching","obsolete":false,"parents":["HP:0003312","HP:0025204"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The distal epiphysis (rounded portion of bone at the far end of the tibia distal to the growth plate) has an abnormal cone-shaped appearance, that is, the epiphysis has a globular form at the bottom, tapering to a point at the top.","id":"HP:6000778","name":"Cone-shaped distal tibial epiphysis","obsolete":false,"parents":["HP:0010592","HP:0040156"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Low bone mass localized in the neck of the femur. Osteoporosis is defined based on a T-score of -2.5 or lower (bone mineral density of 2.5 or more standard deviations below that of a normal young adult).","id":"HP:6000779","name":"Osteoporotic femoral neck","obsolete":false,"parents":["HP:0003367"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Osteoporosis of femoral neck"}]} +{"alt_ids":[],"definition":"History of having taken olanzapine.","id":"HP:6000780","name":"Olanzapine exposure","obsolete":false,"parents":["HP:4000112"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of the enzyme phosphomannomutase (EC 5.4.2.8) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes, fibroblasts, and liver.","id":"HP:6000781","name":"Reduced tissue phosphomannomutase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of the mitochondrial enzyme phosphomannose isomerase (PMI; EC 5.3.1.8) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes, fibroblasts, and liver.","id":"HP:6000782","name":"Reduced tissue phosphomannose isomerase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of the enzyme palmitoyl-protein thioesterase (PPT; EC 3.1.2.22) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts and leukocytes.","id":"HP:6000783","name":"Reduced tissue palmitoyl-protein thioesterase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The mother of a fetus or index patient has a history of regular exposure to one or more cats, e.g., in the household.","id":"HP:6000784","name":"Maternal household cat exposure","obsolete":false,"parents":["HP:0002686"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Unusually strong preference for protein-rich foods.","id":"HP:6000785","name":"Protein craving","obsolete":false,"parents":["HP:0100738"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The pulsation of the superficial temporal artery cannot be detected on physical examination.","id":"HP:6000786","name":"Absent superficial temporal artery pulse","obsolete":false,"parents":["HP:0032552"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A fenestration affecting the basilar artery. Basilar fenestration typically occurs at the lower end of the basilar artery just as the vertebral arteries join Fenestrations of intracranial arteries are segmental duplications of the lumen into two distinct endothelium-lined channels, which may or may not share their adventitial layer. They can range from a small focus of divided tissue to long-segment duplication. Fenestrations are the result of partial failure of fusion of paired primitive embryologic vessels or incomplete obliteration of different anastomosis in a primitive vascular network. The association of fenestrations with aneurysms has been suggested in many small case series, though the exact relationship is not well defined.","id":"HP:6000787","name":"Basilar artery fenestration","obsolete":false,"parents":["HP:0011004"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Basilar fenestration"}]} +{"alt_ids":[],"definition":"Dislocation of the extensor tendons from their central position on the metacarpal heads can be traumatic, congenital, spontaneous, or degenerative.","id":"HP:6000788","name":"Displacement of the extensor tendon in metacarpophalangeal joint","obsolete":false,"parents":["HP:0001167"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A corn, also known as a clavus, heloma, or focal intractable plantar hyperkeratosis, is a type of callosity. Corns are uncomfortable, thickened skin lesions that result from repeated mechanical trauma due to friction or pressure forces.","id":"HP:6000789","name":"Heloma","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Clavus"},{"scope":"EXACT","text":"Corn"},{"scope":"EXACT","text":"Focal intractable plantar hyperkeratosis"}]} +{"alt_ids":[],"definition":"Applied to a sign or symptom that is aggravated by (or made more painful by) pronation. Pronation of the hand involves the rotation of the forearm and wrist so that the palm of the hand faces downwards or towards the back (posteriorly).","id":"HP:6000790","name":"Exacerbated by pronation","obsolete":false,"parents":["HP:0025285"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Change in the normal shape (displacement, asymmetry) of the anterior part of the interhemispheric fissure. This finding can be identified prenatally by sonography or magnetic resonance imaging.","id":"HP:6000791","name":"Distortion of the anterior part of the interhemispheric fissure","obsolete":false,"parents":["HP:0012703"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Growth of Actinomyces israelii (anaerobic filamentous gram positive) culture of lacrimal discharge or concretions.","id":"HP:6000792","name":"Positive lacrimal tract actinomyces culture","obsolete":false,"parents":["HP:0430151"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of wound characterized by dry, black, hard necrotic tissue.","id":"HP:6000793","name":"Eschar","obsolete":false,"parents":["HP:0033126"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Black eschar"},{"scope":"EXACT","text":"Black spot"},{"scope":"EXACT","text":"Tache noire"}]} +{"alt_ids":[],"definition":"History of wearing tight clothing such as compression shorts, sports bras, bike shorts, wet suits, spandex, veils, and tight hats.","id":"HP:6000794","name":"History of wearing tightly fitted clothing","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the serum that react against the folate receptor in the blood circulation.","id":"HP:6000795","name":"Anti-folate receptor antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal (positive) result of the Venereal Disease Research Laboratory (VDRL) test performed in peripheral blood, suggesting past or present syphilis.","id":"HP:6000796","name":"Positive bloodstream VDRL test","obsolete":false,"parents":["HP:0031863"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"VDRL positive in blood"},{"scope":"EXACT","text":"VDRL reactive in blood circulation"}]} +{"alt_ids":[],"definition":"Positive result of the the rapid plasma reagin test (RPR test. This is a rapid diagnostic test that looks for non-specific antibodies in the blood of the patient that may indicate an infection by syphilis or related non-venereal treponematoses.","id":"HP:6000797","name":"Positive bloodstream rapid plasma reagin test","obsolete":false,"parents":["HP:0031863"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Demonstration of the p24 antigen of human immunodeficiency virus in the bloodstream.","id":"HP:6000798","name":"Positive bloodstream HIV p24 antigen test","obsolete":false,"parents":["HP:0430109"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A positive Quantiferon test result indicating Mycobacterium tuberculosis. The Quantiferon assay is designed to stimulate IFN-gamma release from CD4+ T cells in a single tuberculosis antigen tube using long peptides from three M. tuberculosis antigens.","id":"HP:6000799","name":"Positive Quantiferon tuberculosis test","obsolete":false,"parents":["HP:0430109"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Tzanck smear demonstrates multinucleated giant cells, a sign that is suggestive for herpetic infections. Such smears are taken from skin lesions and display multinucleated cells with ground glass nuclei, nuclear moulding, and margination of nuclear chromatin typical of herpes simplex and varicella infection.","id":"HP:6000800","name":"Tzanck smear with multinucleated giant cells","obsolete":false,"parents":["HP:0430117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Locally applied 1.6 percent diethylcarbamazine citrate in Nivea lotion can be used as a diagnostic test for onchocerciasis. Papular reactions are considered as positive test results.","id":"HP:6000801","name":"Positive Mazzotti test","obsolete":false,"parents":["HP:0430117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of nucleic acid of Tropheryma whipplei in the blood circulation by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.","id":"HP:6000802","name":"Positive bloodstream Tropheryma whipplei nucleic acid test","obsolete":false,"parents":["HP:0430067"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of 2,8-dihydroxyadenine in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000803","name":"Elevated urinary 2,8-dihydroxyadenine level","obsolete":false,"parents":["HP:0033161"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Amount of fructose in the urine above the upper limit of normal.","id":"HP:6000804","name":"Elevated urine fructose level","obsolete":false,"parents":["HP:0031979"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of uroporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000805","name":"Elevated urinary uroporphyrin level","obsolete":false,"parents":["HP:6000535"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of phosphohydroxylysine in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000806","name":"Elevated urinary phosphohydroxylysine level","obsolete":false,"parents":["HP:0033098"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fusion of cervical vertebrae at C6 and C7, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine.","id":"HP:6000807","name":"Cervical C6/C7 vertebrae fusion","obsolete":false,"parents":["HP:0002949"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The tissue that immediately surrounds the umbilicus is located below the normal plane of the abdomen.","id":"HP:6000808","name":"Periumbilical depression","obsolete":false,"parents":["HP:0001551"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally increased thicknes of the cortical layer of the tibia.","id":"HP:6000809","name":"Thickened tibial cortex","obsolete":false,"parents":["HP:0000935","HP:0002992"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thickened cortex of the tibia"}]} +{"alt_ids":[],"definition":"Abnormally increased thicknes of the cortical layer of the femur.","id":"HP:6000810","name":"Thickened femoral cortex","obsolete":false,"parents":["HP:0002823","HP:6000705"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally increased thickness of the cortical layer of the radius.","id":"HP:6000811","name":"Thickened cortex of the radius","obsolete":false,"parents":["HP:0000935","HP:0002818"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally increased thickness of the cortical layer of the ulna.","id":"HP:6000812","name":"Thickened cortex of the ulna","obsolete":false,"parents":["HP:0000935","HP:0003957"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Aspartate aminotransferase to alanine aminotransferase ratio increased greater than 1.5.","id":"HP:6000813","name":"Elevated circulating aspartate aminotransferase to alanine aminotransferase ratio","obsolete":false,"parents":["HP:0430135"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The lower jawbone (mandible) pulls away from the temporomandibular joints (TMJ). It is characterized by pain, clicking and functional restriction.","id":"HP:6000814","name":"Temporomandibular joint dislocation","obsolete":false,"parents":["HP:0010754"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Temporomandibular malocclusion"}]} +{"alt_ids":[],"definition":"Amyloidosis is defined as the accumulation of amorphous, proteinaceous material in different parts of the body. Amyloid can be deposited in the thyroid gland in such quantities to cause a clinically apparent enlargement of the gland known as Amyloid goiter.","id":"HP:6000815","name":"Amyloid goiter","obsolete":false,"parents":["HP:0000853","HP:0020015"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thyroid gland amyloidosis"}]} +{"alt_ids":[],"definition":"Abnormally large lesser trochanter.","id":"HP:6000816","name":"Prominent lesser trochanter","obsolete":false,"parents":["HP:0003366"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Regions of sclerosing hyperostosis in the cortex of long bones, which might have a radiologic appearance of dripping candle wax.","id":"HP:6000817","name":"Melorheostosis","obsolete":false,"parents":["HP:0011314"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital anomaly that appears as an amputation at different levels of the extremity. The limb is missing the terminal (distal) segment(s), with preservation of all the segment(s) proximal to the missing segment.","id":"HP:6000818","name":"Transverse terminal limb defect","obsolete":false,"parents":["HP:0040064"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Transverse terminal limb reduction"}]} +{"alt_ids":[],"definition":"The activity of beta-glucuronidase (EC 3.2.1.31) in the blood circulation is above the upper limit of normal.","id":"HP:6000819","name":"Elevated circulating beta-glucuronidase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Plasma osmolality is determined mainly by Sodium, its counter ions, and uncharged species such as Glucose and Urea. Knowledge of the plasma concentration of these species allows calculation of the plasma osmolality quite accurately. If the difference between the measured osmolality (MO) and calculated osmolality (CO) is known as the osmolar gap (OG) is large (greater than 15) osmolar gap can help identify the presence in plasma of substances such as ethanol, methanol, isopropanol, ethylene glycol, propylene glycol..","id":"HP:6000820","name":"Elevated osmolality gap","obsolete":false,"parents":["HP:6000679"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of bile alcohols in the blood circulation is above the upper limit of normal.","id":"HP:6000821","name":"Elevated circulating bile alcohol concentration","obsolete":false,"parents":["HP:0430071"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of tetrahydrobiopterin in the cerebrospinal fluid (CSF) above the upper limit of normal.","id":"HP:6000822","name":"Elevated CSF tetrahydrobiopterin level","obsolete":false,"parents":["HP:0040207"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of 5-hydroxyindoleacetic acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.","id":"HP:6000823","name":"Elevated CSF 5-hydroxyindoleacetic acid concentration","obsolete":false,"parents":["HP:0020019"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of at least 10% eosinophils in the total cerebrospinal fluid (CSF) leukocyte count.","id":"HP:6000824","name":"Cerebrospinal fluid eosinophilia","obsolete":false,"parents":["HP:0012229"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Eosinophilia in the CSF"}]} +{"alt_ids":[],"definition":"Concentration or activity of 3beta-hydroxy-delta5-C27-steroid oxidoreductase (C27 3beta-HSD) as measured in cultured fibroblasts is below the limits of normal.","id":"HP:6000825","name":"Reduced C27 3beta-HSD activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 (PLOD1; also known as Lysyl hydroxylase; EC 1.14.11.4) as measured in cultured fibroblasts is below the limits of normal. PLOD1 catalyzes the formation of hydroxylysine in collagens and other proteins with collagen-like amino acid sequences, by the hydroxylation of lysine residues in X-lys-gly sequences.","id":"HP:6000826","name":"Reduced procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of fumarylacetoacetate hydrolase (FAH; EC 3.7.1.2) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts.","id":"HP:6000827","name":"Diminished tissue fumarylacetoacetate hydrolase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of Peptidase D (EC 3.4.13.9; also known as prolidase, imidodipeptidase, proline dipeptidase, and aminoacyl-L-proline hydrolase) below the lower limit of normal. The activity of this enzyme can be measured in erythrocytes, leukocytes, or fibroblasts.","id":"HP:6000828","name":"Reduced tissue peptidase D activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced tissue prolidase activity"}]} +{"alt_ids":[],"definition":"Concentration or activity of the glycine cleavage enzyme below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts.","id":"HP:6000829","name":"Reduced tissue glycine cleavage enzyme activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of the alpha-ketoglutarate dehydrogenase complex as measured in cultured fibroblasts is below the limits of normal. This enzyme is a multienzyme complex consisting of 3 protein subunits, oxoglutarate dehydrogenase, also known as alpha-ketoglutarate dehydrogenase or E1k (EC 1.2.4.2.), dihydrolipoyl succinyltransferase (DLST, or E2k; 126063), and dihydrolipoyl dehydrogenase (DLD, or E3; 238331). The complex catalyzes a key reaction in the Krebs tricarboxylic acid cycle.","id":"HP:6000830","name":"Diminished alpha-ketoglutarate dehydrogenase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of dihydroxycholestanoic acid (DHCA) in the blood circulation is above the upper limit of normal.","id":"HP:6000831","name":"Increased circulating dihydroxycholestanoic acid concentration","obsolete":false,"parents":["HP:0012202"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of phosphorylase kinase below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts.","id":"HP:6000832","name":"Reduced tissue phosphorylase kinase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased concentration of potassium in the blood circulation specifically measured during a disease flareup, attack, or exacerbation.","id":"HP:6000833","name":"Hyperkalemia while symptomatic","obsolete":false,"parents":["HP:0011042"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperkalemia during attack"}]} +{"alt_ids":[],"definition":"The amount of gamma-glutamylcysteine in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000834","name":"Elevated urinary gamma-glutamylcysteine level","obsolete":false,"parents":["HP:0033098"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:6000543"],"definition":"Growth of mycobacteria in a culture derived from cerebrospinal fluid (CSF).","id":"HP:6000835","name":"Positive CSF mycobacterial culture","obsolete":false,"parents":["HP:0430123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive CSF mycobacterium culture"},{"scope":"EXACT","text":"Positive mycobacterium CSF culture"}]} +{"alt_ids":[],"definition":"Positive (abnormal) result of a sputum or pharyngeal sample test such as polymerase chain reaction that is targeted against a nucleic acid sequence specific for a pathogen.","id":"HP:6000836","name":"Positive respiratory tract nucleic acid pathogen test","obsolete":false,"parents":["HP:0430151"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of SARS-CoV-2 coronavirus nucleic acid in the sputum or pharyngeal sample by a method such as polymerase chain reaction.","id":"HP:6000837","name":"Positive respiratory tract SARS-CoV-2 coronavirus nucleic acid test","obsolete":false,"parents":["HP:6000836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:6000909"],"definition":"Cryptosporidium antigen present in stool. Tests include direct fluorescent-antibody (DFA), which detects intact organisms, and enzyme immunoassays (EIAs), which detect soluble stool antigens.","id":"HP:6000838","name":"Positive fecal cryptosporidium antigen test","obsolete":false,"parents":["HP:0034866"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive stool Cryptosporidium antigen test"}]} +{"alt_ids":[],"definition":"The Bell Clapper deformity is one of the causes for the testicular torsion. In this condition, testis lacks a normal attachment to tunica vaginalis and hangs freely, causing it to sit horizontally rather than vertically in the scrotum.","id":"HP:6000839","name":"Horizontal position of testicle","obsolete":false,"parents":["HP:0000035"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bell-clapper deformity"}]} +{"alt_ids":[],"definition":"Abnormal enlargement (swelling) that is restricted to a specific part of a limb.","id":"HP:6000840","name":"Localized soft-tissue swelling on extremity","obsolete":false,"parents":["HP:0040064"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any deviation from the normal height of the sclera, the white part of the eye that forms the tough, fibrous outer layer of the exterior of the eyeball.","id":"HP:6000841","name":"Abnormal scleral thickness","obsolete":false,"parents":["HP:0000591"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Multiple beaded papules along the eyelid margins and inner canthus.","id":"HP:6000842","name":"Multiple eyelid beaded papules","obsolete":false,"parents":["HP:0000492"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Moniliform blepharosis"}]} +{"alt_ids":[],"definition":"A type of conjunctivitis that is not characterized by appreciable exudate, i.e., fluid, cells, or other substances that have escaped from blood vessels and have been deposited around the eyelids.","id":"HP:6000843","name":"Nonexudative conjunctivitis","obsolete":false,"parents":["HP:0000509"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Demonstration of a nematode (roundworm) in the retina, generally by an imaging procedure such as fundoscopy.","id":"HP:6000844","name":"Nematode in retina","obsolete":false,"parents":["HP:0430030"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A condition in which blood vessels adjacent to the eighth cranial nerve (vestibulocochlear nerve) such as the anterior inferior cerebellar artery abnormally contact or compress the vestibulocochlear nerve as it exits the brainstem or travels within the cerebellopontine angle.","id":"HP:6000845","name":"Vascular compression of the eighth cranial nerve","obsolete":false,"parents":["HP:0009591"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Neurovascular compression syndrome of the vestibulocochlear nerve"},{"scope":"EXACT","text":"Vestibulocochlear nerve compression syndrome"}]} +{"alt_ids":[],"definition":"Multifocal intra- and extra-hepatic bile duct strictures alternating with normal caliber or slightly dilated segments, resembling beads on a string.","id":"HP:6000846","name":"Beaded bile ducts","obsolete":false,"parents":["HP:0012440"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal enlargement or swelling localized in the heart. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.","id":"HP:6000847","name":"Cardiac mass","obsolete":false,"parents":["HP:0001627"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increase in size of the superior olive, also known as the superior olivary complex. The superior olive is a collection of brainstem nuclei that is located in pons, functions in multiple aspects of hearing and is an important component of the ascending and descending auditory pathways of the auditory system.","id":"HP:6000848","name":"Superior olive hypertrophy","obsolete":false,"parents":["HP:0007361"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Spinal extradural arachnoid cyst is a cyst in the spinal canal that protrudes into the epidural space from a defect in the dura mater.","id":"HP:6000849","name":"Spinal extradural arachnoid cyst","obsolete":false,"parents":["HP:0002143"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"SEDAC"}]} +{"alt_ids":[],"definition":"Localization to or predominance in the temporal cortex of the brain.","id":"HP:6000850","name":"Temporal cortex localization","obsolete":false,"parents":["HP:0430127"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal enhancement of CT or MIR contrast medium in the basilar meninges, that is, those located in the basal cisterns or spaces at the base of the brain, due to increased permeability of blood vessels in these areas.","id":"HP:6000851","name":"Basilar meningeal enhancement","obsolete":false,"parents":["HP:0010651"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Persistent and substantial increase in diameter diameter and length of the colon.","id":"HP:6000852","name":"Megacolon","obsolete":false,"parents":["HP:0002250"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A fluid-filled sac or cavity that develops due to fluid accumulation within the thyroid tissue.","id":"HP:6000853","name":"Thyroid cyst","obsolete":false,"parents":["HP:0011772"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of sulfate in the blood circulation is below the lower limit of normal.","id":"HP:6000854","name":"Decreased circulating sulfate concentration","obsolete":false,"parents":["HP:0020330"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The inability to maintain a comfortable body temperature in a cold environment or cold temperatures.","id":"HP:6000855","name":"Cold intolerance","obsolete":false,"parents":["HP:0004370"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cold sensitivity"}]} +{"alt_ids":[],"definition":"Applies to an abnormality that is situated in (or predominant in) the head and neck region.","id":"HP:6000856","name":"Head and neck distribution","obsolete":false,"parents":["HP:0012838"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality that is highly similar on the left and right sides of the body.","id":"HP:6000857","name":"Symmetric distribution","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality that is situated in extensor surface of an extremity.","id":"HP:6000858","name":"Muscle extensor surface location","obsolete":false,"parents":["HP:0012838"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of lipid-laden macrophages (foam cells) in the inner layer of the skin (dermis).","id":"HP:6000859","name":"Dermal foam cells","obsolete":false,"parents":["HP:0034924"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Diminished activity of Very long-chain acyl-CoA dehydrogenase (VLCAD), an enzyme that catalyzes the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons. VLCAD activity can be measured with biochemical testing using cultured fibroblasts or lymphocytes.","id":"HP:6000860","name":"Diminished tissue very long-chain acyl-CoA dehydrogenase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of glycogen branching enzyme in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts.","id":"HP:6000861","name":"Diminished tissue glycogen branching enzyme activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign tumor of the parotid salivary gland.","id":"HP:6000862","name":"Parotid adenoma","obsolete":false,"parents":["HP:0100684"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevation of the serum ascites albumin gradient (SAAG), which is based on the difference between the albumin level of serum and of ascitic fluid, may be used to assess the extent of ascites. The SAAG is thought to reflect the colloid osmotic pressure gradient and the degree of portal hypertension. It has been shown that SAAG is a better discriminator of portal hypertension than ascites. A SAAG of 1.1 gm/dL or higher is considered as high, indicating the presence of portal hypertension, while SAAG less than 1.1 gm/dL is low, indicating the absence of portal hypertension.","id":"HP:6000863","name":"Elevated serum-ascites albumin gradient (SAAG)","obsolete":false,"parents":["HP:0025032"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormally high serum-ascites albumin gradient (SAAG)"}]} +{"alt_ids":[],"definition":"Inability to raise the corners of the mouth during the act of smiling due to facial muscle weakness. The act of smiling is accompanied by a horizontal movement of the mouth.","id":"HP:6000864","name":"Transverse smile","obsolete":false,"parents":["HP:0030319"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An accessory phalanx of the fourth (ring) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint.","id":"HP:6000865","name":"Hyperphalangy of the 4th finger","obsolete":false,"parents":["HP:0030367"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperphalangy of fourth finger"}]} +{"alt_ids":[],"definition":"Developmental delay of ossification of the distal epiphysis of the femur.","id":"HP:6000866","name":"Delayed distal femoral epiphyseal ossification","obsolete":false,"parents":["HP:0010590"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Developmental delay of ossification of an epiphysis of the tibia.","id":"HP:6000867","name":"Delayed tibial epiphyseal ossification","obsolete":false,"parents":["HP:0006508"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a toe. That is, there is an accessory phalanx that is arranged linearly with the other phalanges.","id":"HP:6000868","name":"Toe hyperphalangy","obsolete":false,"parents":["HP:0010161"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An elevation in bone density in the ilium. Sclerosis is normally detected on a radiograph as an area of increased opacity.","id":"HP:6000869","name":"Sclerotic ilium","obsolete":false,"parents":["HP:0002867"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased bone density of the ilium"},{"scope":"EXACT","text":"Sclerosis of iliac bone"}]} +{"alt_ids":[],"definition":"The chevron sign refers to an inverted V-shape metaphyses. It is most commonly seen in the distal femur and tends to disappear with age.","id":"HP:6000870","name":"Metaphyseal chevron deformity","obsolete":false,"parents":["HP:0000944"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Popcorn calcifications are areas of amorphous calcifications often with rings and arcs that resemble popped corn kernels in the metaphysis and epiphysis around the growth plate.","id":"HP:6000871","name":"Popcorn calcification","obsolete":false,"parents":["HP:0010655"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect characterized by absence or underdevelopment of the calvaria.","id":"HP:6000872","name":"Aplasia/Hypoplasia of the calvaria","obsolete":false,"parents":["HP:0002683","HP:0009116"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Transverse long bone midshaft spurs or osteochondral projections typically occuring in the fibulae and less commonly in the forearms.","id":"HP:6000873","name":"Bowdler spurs","obsolete":false,"parents":["HP:0011314"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Delayed maturation and calcification of the clavicle.","id":"HP:6000874","name":"Delayed ossification of the clavicle","obsolete":false,"parents":["HP:0000889"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Distance between the sacrum and the ilium bones of the pelvis at the sacroiliac joint is above the upper limit of normal.","id":"HP:6000875","name":"Wide sacroiliac joint","obsolete":false,"parents":["HP:0100781"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the serum that react against glutamate receptor delta2.","id":"HP:6000876","name":"Anti-Glutamate Receptor delta2 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the serum that react against dachshund-homolog 1 (DACH1) autoantigen.","id":"HP:6000877","name":"Anti-dachshund family transcription factor 1 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-neuronal nuclear antibody-type 3 positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against potassium channel tetramerization domain containing 16 (KCTD16).","id":"HP:6000878","name":"Anti-potassium channel tetramerization domain containing 16 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-KCTD16"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the serum that react against regulator of G-protein signaling 8 (RGS8).","id":"HP:6000879","name":"Anti-regulator of G protein signaling 8 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the serum that react against neurochondrin .","id":"HP:6000880","name":"Anti-neurochondrin antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the serum that react against Netrin-1 receptors DCC (deleted in colorectal carcinoma).","id":"HP:6000881","name":"Anti-DCC netrin 1 receptor antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the serum that react against recoverin. Recoverins are calcium-binding proteins primarily expressed in retinal rod photoreceptors and primarily involved in phototransduction.","id":"HP:6000882","name":"Anti-recoverin antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-retinal CAR antigen antibody"}]} +{"alt_ids":[],"definition":"A history of exposure to anesthesia by propofanol infusion recently before the presenting complaint.","id":"HP:6000883","name":"Recent history of sedation by propofol infusion","obsolete":false,"parents":["HP:4000144"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Size (volume) of the head of the humerus above the upper limit of normal.","id":"HP:6000884","name":"Enlarged humeral head","obsolete":false,"parents":["HP:0003887"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Size (volume) of the head of the radius above the upper limit of normal.","id":"HP:6000885","name":"Enlarged radial head","obsolete":false,"parents":["HP:0003995"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Size (volume) of the distal epiphysis of the tiba above the upper limit of normal.","id":"HP:6000886","name":"Enlarged distal tibial epiphysis","obsolete":false,"parents":["HP:0010592"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Large distal tibial epiphysis"}]} +{"alt_ids":[],"definition":"The concentration of bismuth in the blood is above the upper limit of a guidance value for total blood bismuth concentrations that implies possible injurious effects.","id":"HP:6000887","name":"Elevated blood bismuth concentration","obsolete":false,"parents":["HP:0410172"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of a level of bismuth in the urine high enough to raise the suspicion of bismuth toxicity, usually greater than 20microgram per deciliter.","id":"HP:6000888","name":"Elevated urine bismuth level","obsolete":false,"parents":["HP:0031840"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Distal radioulnar joint dislocation is more commonly displaced dorsally (i.e. the distal ulna is dorsally dislocated with respect to the distal radius), but can be volarly displaced.","id":"HP:6000889","name":"Distal radioulnar joint dislocation","obsolete":false,"parents":["HP:0006439"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"he proximal radioulnar translocation means that both the radius and ulna are dislocated from the humerus.","id":"HP:6000890","name":"Proximal radioulnar joint dislocation","obsolete":false,"parents":["HP:0006439"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of one or more interphalangeal creases of a toe (i.e., of the transverse lines in the skin between the phalanges of the toes).","id":"HP:6000891","name":"Absent toe phalanx flexion crease","obsolete":false,"parents":["HP:0001780"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Multinucleated phagocytes in the cerebral white matter, typically are 10-15 micrometers in diameter, that contain fatty filamentous inclusions that stain positive for periodic acid-Schiff (PAS), which may be phagocytized myelin, as these cells are often found in proximity to sites where demyelination is prominent. Globoid cells have been to thought to originate from CNS resident microglia and/or infiltrating peripheral macrophages.","id":"HP:6000892","name":"White matter globoid cells","obsolete":false,"parents":["HP:0002500"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Glucosylceramide forms fibrillar aggregates that accumulate in macrophages and result in the cell cytoplasm presenting a characteristic crumpled tissue paper appearance. These cells, known as Gaucher cells, infiltrate various organs (e.g., bone marrow, spleen, and liver) and are responsible for the major signs of Gaucher disease.","id":"HP:6000893","name":"Gaucher cells","obsolete":false,"parents":["HP:0025461"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign, well circumscribed neoplasm that arises from the breast.","id":"HP:6000894","name":"Breast adenoma","obsolete":false,"parents":["HP:0100013"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of breast adenoma composed of benign apocrine cells.","id":"HP:6000895","name":"Breast apocrine adenoma","obsolete":false,"parents":["HP:0100013"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Apocrine adenoma of the breast"}]} +{"alt_ids":[],"definition":"A type of benign cyst or cysts in breast tissue that are typically mobile within the glandular breast tissue, chest wall, and skin and are rubber-like in texture. The main histological features are an extracellular matrix of collagen, peri canalicular patterns of stromal cells with the presence of florid epithelial hyperplasia.","id":"HP:6000896","name":"Fibrocystic breast lesion","obsolete":false,"parents":["HP:0031093"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of neuroendocrine tumor that originates in the pancreas and secretes excessive amounts of vasoactive intestinal peptide (VIP).","id":"HP:6000897","name":"Pancreatic VIPoma","obsolete":false,"parents":["HP:0002894"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Vasoactive intestinal peptide-secreting tumor of the pancreas"}]} +{"alt_ids":[],"definition":"Originating from enterochromaffin-like cells, gastric carcinoid tumors are rare tumors that develop within the gastric mucosa. They can present as an isolated lesion or there can be multiple lesions. The tumor can invade locally into deeper structures of the gastrointestinal tract wall. Solitary gastric carcinoids have a greater chance for the development of malignancy and metastasis as compared to multiple gastric carcinoids due to hypergastrinemia.","id":"HP:6000898","name":"Gastric carcinoid tumor","obsolete":false,"parents":["HP:0100570"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Identification of scabies by means of an examination of the skin such as microscopic identification of scabies mites, eggs, or feces from obtained scales by skin scraping.","id":"HP:6000899","name":"Positive skin scabies test","obsolete":false,"parents":["HP:0430117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of nucleic acid of the mumps virus in the blood circulation by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.","id":"HP:6000900","name":"Positive mumps virus PCR test in the blood circulation","obsolete":false,"parents":["HP:0430067"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of Mycobacterium tuberculosis in the bloodstream by means of detection of interferon-gamma secreted by T cells in response to specific antigens from Mycobacterium tuberculosis, commonly 6kD early secretory antigenic target-6 and 10kD culture filtrate protein-10.","id":"HP:6000901","name":"Positive bloodstream tuberculosis-induced T-cell-based interferon-gamma release assay","obsolete":false,"parents":["HP:0430150"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive T-SPOT-tuberculosis test in the bloodstream"}]} +{"alt_ids":[],"definition":"Growth of Neisseria gonorrhoeae in a culture derived from circulating blood.","id":"HP:6000902","name":"Positive blood Neisseria gonorrhoeae culture","obsolete":false,"parents":["HP:0031864"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of Mumps virus.","id":"HP:6000903","name":"Anti-mumps antibody positivity","obsolete":false,"parents":["HP:0430059"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Growth of Vibrio cholerae in a culture derived from a feces sample.","id":"HP:6000904","name":"Positive Vibrio cholerae stool culture","obsolete":false,"parents":["HP:0034866"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive Vibrio cholerae fecal culture"}]} +{"alt_ids":[],"definition":"Detection of mucocutaneous varicella zoster virus nucleic acid in the skin by a method such as polymerase chain reaction. The sample is usually obtained by swab from skin or mucous membranes.","id":"HP:6000905","name":"Positive cutaneous varicella zoster virus nucleic acid test","obsolete":false,"parents":["HP:0430117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Growth of Cryptococcus in a culture derived from a blood sample.","id":"HP:6000906","name":"Positive bloodstream cryptococcus culture","obsolete":false,"parents":["HP:0034749","HP:5210107"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of nucleic acid of Borrelia miyamotoi in the blood circulation by a method such as polymerase chain reaction (PCR).","id":"HP:6000907","name":"Positive bloodstream Borrelia miyamotoi nucleic acid test","obsolete":false,"parents":["HP:0430067"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of nucleic acid of Coxsackievirus in the blood circulation by a method such as polymerase chain reaction (PCR).","id":"HP:6000908","name":"Positive bloodstream Coxsackievirus nucleic acid pathogen test","obsolete":false,"parents":["HP:0430067"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:6000909","name":"obsolete Positive stool Cryptosporidium antigen test","obsolete":true,"parents":[],"replaced_by":["HP:6000838"],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of alpha-L-iduronidase (IDUA; EC 3.2.1.76) below the lower limit of normal. FECH enzyme can be measured in multiple tissues including cultured fibroblasts and leukocytes.","id":"HP:6000910","name":"Diminished tissue alpha-L-iduronidase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of neuraminidase (EC 3.2.1.18)in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts. Neuraminidase is also known as lysosomal sialidase.","id":"HP:6000911","name":"Reduced tissue neuraminidase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Nummular keratitis consists of multiple scattered small round anterior corneal superficial stromal infiltrates.","id":"HP:6000912","name":"Nummular keratitis","obsolete":false,"parents":["HP:0000491"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Bulging in the area of the lower abdomen, just above the thigh and near the groin.","id":"HP:6000913","name":"Swelling of inguinal region","obsolete":false,"parents":["HP:0004298"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality whose distribution and appearance are solitary and localized to a part of the skin, a tissue or an organ that differs from the surrounding healthy tissue.","id":"HP:6000914","name":"Single lesion","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A specific disorder of spelling. A score on a standardized spelling test is at least two standard errors of prediction below the level expected on the basis of the child's chronological age and general intelligence in the context of scores on reading accuracy and comprehension and on arithmetic that are within the normal range (within two standard deviations from the mean).","id":"HP:6000915","name":"Dysorthography","obsolete":false,"parents":["HP:0001328"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of echogenic fetal bowel in which the hyperechogenicity is strictly limited to the colon.","id":"HP:6000916","name":"Echogenic fetal colon","obsolete":false,"parents":["HP:0010943"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of excess fluid in the bone marrow.","id":"HP:6000917","name":"Bone marrow edema","obsolete":false,"parents":["HP:0000969","HP:0011842"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital anomaly that appears as an amputation at different levels of the arm, e.g. humerus, proximal forearm, wrist or finger. The limb is missing the terminal (distal) segment(s), with preservation of all the segment(s) proximal to the missing segment.","id":"HP:6000918","name":"Transverse terminal upper limb defect","obsolete":false,"parents":["HP:0002817","HP:6000818"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Transverse terminal upper limb reduction"}]} +{"alt_ids":[],"definition":"After inflating a blood pressure cuff from 10 mm Hg to 20 mm Hg over the patient's systolic blood pressure, the Trousseau sign is considered positive if carpal spasm develops, with flexion of the thumb and adduction of the finger within 3 minutes. However, this can be painful, so the time should be noted, and the cuff should be deflated once the test is positive.","id":"HP:6000919","name":"Trousseau sign","obsolete":false,"parents":["HP:0003394"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Carpal spasm"}]} +{"alt_ids":[],"definition":"Congenital or acquired abnormalities of the occipital bone, foramen magnum, or first two cervical vertebrae that decrease the space for the lower brain stem and cervical cord. These malformations can lead to cranial nerve compression, vertebral artery compression, and obstructive hydrocephalus.","id":"HP:6000920","name":"Craniocervical junction constriction","obsolete":false,"parents":["HP:0046508"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tight craniocervical junction"},{"scope":"EXACT","text":"Tight craniovertebral junction"}]} +{"alt_ids":[],"definition":"Excessively rotated (also called torsion) position of the fibula (calf bone). An increased external rotation of the fibula in the incisura tibiofibularis of more than 5 degrees may lead to an increased pressure and will negatively affect the cartilage.","id":"HP:6000921","name":"Fibular torsion","obsolete":false,"parents":["HP:0002991"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fibular rotation"}]} +{"alt_ids":[],"definition":"Any abnormal process of ossification of the phalangeal bones, which normally are ossified from the body and proximal extremity. Ossification of the body commences during the eighth week of fetal development. Ossification of the proximal extremity commences in the bones between the third and fourth years.","id":"HP:6000922","name":"Abnormal finger phalanx ossification","obsolete":false,"parents":["HP:0005918","HP:0010660"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The monospot test is a latex agglutination test which utilizes equine erythrocytes as the primary substrate and tests for specific heterophile antibodies produced by the human immune system in response to EBV infection. When these specific antibodies are present in the patient's blood specimen, exposure to equine erythrocytes will lead to clumping of the sample, thus signaling a positive agglutination reaction.","id":"HP:6000923","name":"Positive bloodstream EBV monospot test","obsolete":false,"parents":["HP:0430051"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the cerebrospinal fluid (CSF) that react against a component of Toxoplasma gondii.","id":"HP:6000924","name":"Positive CSF Toxoplasma gondii antibody positivity","obsolete":false,"parents":["HP:0430139"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A positive result of the tuberculin skin test suggesting previous expouse or infection with mycobacterium teberculosis. A standard dose of five tuberculin units (TU) (0.1ml) is injected intradermally (into the skin) and read 48 to 72 h later. A person who has been exposed to the bacteria is expected to mount an immune response in the skin containing the bacterial proteins. The volar aspect of the forearm is the preferred site of test. The basis of reading is the presence or absence of induration, which may be determined by inspection (from a side view against the light as well as by direct light) and by palpation. For standardization, the diameter of induration should be measured transversely to the long axis of the forearm and recorded in millimeters.","id":"HP:6000925","name":"Positive tuberculin skin test","obsolete":false,"parents":["HP:0430030"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive Mantoux tuberculosis test"},{"scope":"EXACT","text":"Tuberculosis skin test positive"}]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that react against a component of Treponema pallidum.","id":"HP:6000926","name":"Anti-Treponema pallidum antibody positivity","obsolete":false,"parents":["HP:0430061"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive Fluorescent treponemal antibody absorption test"},{"scope":"EXACT","text":"Positive Treponema pallidum hemoagglutination assay"},{"scope":"EXACT","text":"Treponemal antibody titer high in blood"}]} +{"alt_ids":[],"definition":"The presence of antibodies in the cerebrospinal fluid (CSF) that react against a component of Borrelia burgdorferi.","id":"HP:6000927","name":"Positive CSF Borrelia burgdorferi antibody positivity","obsolete":false,"parents":["HP:0430139"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of antibodies in the cerebrospinal fluid (CSF) that react against a component of JC-virus (also known as JC-polyomavirus and John Cunningham virus).","id":"HP:6000928","name":"Positive CSF JC-virus antibody positivity","obsolete":false,"parents":["HP:0430139"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive CSF JC-polyomavirus antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of antibodies in the blood circulation that act against the rabies virus function by blocking the binding of the glycoprotein to a receptor or preventing the membrane fusion process.","id":"HP:6000929","name":"Neutralizing anti-rabies virus antibody positivity","obsolete":false,"parents":["HP:0430051"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal reduction in the amount of radioactive tracer uptake upon hepatobiliary scintigraphy.","id":"HP:6000930","name":"Impaired hepatobiliary scintigraphy tracer uptake","obsolete":false,"parents":["HP:0025155"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A pulmonary nodule with calcium deposits. On radiography, these nodules appear dense.","id":"HP:6000931","name":"Calcified pulmonary nodule","obsolete":false,"parents":["HP:0033608"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applied to a sign or symptom that is more severe following a meal.","id":"HP:6000932","name":"Postprandial exacerbation","obsolete":false,"parents":["HP:0025285"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The appearance of new skin lesions on previously unaffected skin secondary to trauma. This phenomenon is also termed the isomorphic (from Greek, equal shape) response, given the fact that the new lesions that appear are clinically and histologically identical to the patient's underlying cutaneous disease.","id":"HP:6000933","name":"Koebner Phenomenon","obsolete":false,"parents":["HP:0011122"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Glenoid dysplasia is a developmental anomaly of the scapula that is characterized by a bony deficiency of the posteroinferior glenoid and the adjacent scapular neck.","id":"HP:6000934","name":"Glenoid dysplasia","obsolete":false,"parents":["HP:0011912"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Glenohumeral dysplasia"}]} +{"alt_ids":[],"definition":"A past medical history of recently having retracted the penile foreskin for a prolonged period of time. Paraphimosis commonly occurs iatrogenically, when the foreskin is retracted for cleaning, placement of a urinary catheter, a procedure such as a cystoscopy, or for penile examination. Failure to return the retracted foreskin over the glans promptly after the initial retraction can lead to paraphimosis.","id":"HP:6000935","name":"Prolonged retraction of penile foreskin","obsolete":false,"parents":["HP:4000144"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal thickening of the cortex of the clavicle.","id":"HP:6000936","name":"Thickened cortex of the clavicle","obsolete":false,"parents":["HP:0000889"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad cortex of clavicle"},{"scope":"EXACT","text":"Cortical thickening of the clavicle"},{"scope":"EXACT","text":"Thickened cortices of clavicle"}]} +{"alt_ids":[],"definition":"Abnormal thickening of the cortex of the mandible.","id":"HP:6000937","name":"Thickened cortex of the mandible","obsolete":false,"parents":["HP:0000277"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Broad cortex of mandible"},{"scope":"EXACT","text":"Cortical thickening of the mandible"},{"scope":"EXACT","text":"Thickened cortices of mandible"}]} +{"alt_ids":[],"definition":"Minor hypoplasia (developmental undergrowth) of the thumb, whereby all musculoskeletal and neurovascular components of the digit are present, just small in size (Blauth classification).","id":"HP:6000938","name":"Thumb hypoplasia grade 1","obsolete":false,"parents":["HP:0009778"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of developmental undergrowth of the thumb, whereby all of the osseous structures are present (may be small), and there is metacarpophalangeal joint ulnar collateral ligament instability and thenar hypoplasia.","id":"HP:6000939","name":"Thumb hypoplasia grade 2","obsolete":false,"parents":["HP:0009778"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplasia of the thumb grade 2"}]} +{"alt_ids":[],"definition":"A type of developmental undergrowth of the thumb, whereby there are musculotendinous and osseous deficiencies with the carpometacarpal (CMC) joint intact. Absence of active motion at the metacarpophalangeal (MCP) or interphalangeal (IP) joint.","id":"HP:6000940","name":"Thumb hypoplasia grade 3A","obsolete":false,"parents":["HP:0009778"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplasia of the thumb grade IIIA"}]} +{"alt_ids":[],"definition":"A type of developmental undergrowth of the thumb, whereby there are musculotendinous and osseous deficiencies characterized by basal metacarpal aplasia with deficient carpometacarpal (CMC) joint, and absence of metacarpophalangeal (MCP) or interphalangeal (IP) joint.","id":"HP:6000941","name":"Thumb hypoplasia grade 3B","obsolete":false,"parents":["HP:0009778"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplasia of the thumb grade IIIB"}]} +{"alt_ids":[],"definition":"A type of developmental undergrowth of the thumb characterized by attachment to the hand only by the skin and digital neurovascular structures.","id":"HP:6000942","name":"Thumb hypoplasia grade 4","obsolete":false,"parents":["HP:0009778"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Floating thumb"},{"scope":"EXACT","text":"Hypoplasia of the thumb grade IV"},{"scope":"EXACT","text":"Pouce flottant"}]} +{"alt_ids":[],"definition":"Multiple multiple, small, well-defined radiodense foci of cortical-like bone in the medullary space parallel to the trabeculae located in the femur. The loci correspond to condensations of the lamellar trabeculae on histology.","id":"HP:6000943","name":"Femoral osteopoikilosis","obsolete":false,"parents":["HP:0002823"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Femoral slcerotic foci"},{"scope":"EXACT","text":"Sclerotic foci of the femur"}]} +{"alt_ids":[],"definition":"Pain or tenderness in the region of the carotid artery.","id":"HP:6000944","name":"Carotidynia","obsolete":false,"parents":["HP:0046506"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A substantial difference in blood pressure (e.g., 20 mmHg) between the right and left arms.","id":"HP:6000945","name":"Asymmetric blood pressure between arms","obsolete":false,"parents":["HP:0025749"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital anomaly that appears as an amputation at different levels of the leg, e.g. femur, foreleg, ankle or toe. The limb is missing the terminal (distal) segment(s), with preservation of all the segment(s) proximal to the missing segment.","id":"HP:6000946","name":"Transverse terminal lower limb defect","obsolete":false,"parents":["HP:6000818"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect leading to a transverse deficiency with absence of the lower leg (eg tibia and fibula), ankle and foot.","id":"HP:6000947","name":"Hemimelia of lower leg","obsolete":false,"parents":["HP:6000946"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect leading to a transverse deficiency with absence of the forearm (eg ulna and radius), wrist and hand.","id":"HP:6000948","name":"Hemimelia of forearm","obsolete":false,"parents":["HP:6000918"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of having been treateed with a sodium glucose transport inhibitors such as dapagliflozin, empagliflozin, canagliflozin, sglt-i, SGLT2, bexagliflozin, ertugliflozin, sotagliflozin, jardiance, invokana, forxiga, brenzavvy, steglatro, inpefa.","id":"HP:6000949","name":"Sodium glucose transport inhibitor exposure","obsolete":false,"parents":["HP:4000112"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"SGLT2i exposure"}]} +{"alt_ids":[],"definition":"A benign paroxysmal nonepileptic disorder occurring in healthy children 6 to 48 months of age. The episodes start with a provocation such as emotional upset or minor injury, and might progress to breath holding, cyanosis, and syncope.","id":"HP:6000950","name":"Breath-holding spell","obsolete":false,"parents":["HP:0002793"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of a splayed (i.e.,flared) metaphyseal segment of the proximal tibia.","id":"HP:6000951","name":"Flared proximal tibial metaphysis","obsolete":false,"parents":["HP:0030307"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Delayed maturation and calcification of any of the toe phalanges.","id":"HP:6000952","name":"Delayed toe phalanx ossification","obsolete":false,"parents":["HP:0010675"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A history of ingestion of a relatively high amount of foods containing sorbitol.","id":"HP:6000953","name":"Sorbitol ingestion","obsolete":false,"parents":["HP:4000123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Growth of bacteria in a culture dervied from ascites fluid.","id":"HP:6000954","name":"Positive peritoneal fluid bacterial culture","obsolete":false,"parents":["HP:0430030"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of cystine crystals in the cornea. The crystals, which have a fine, uniform needle-shaped structure, are diffusely distributed within the corneal tissues.","id":"HP:6000955","name":"Corneal cystine crystals","obsolete":false,"parents":["HP:0000531"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A manifestation of abnormal wound healing in which there is formation of excessive granulation tissue, with the granulation tissue rising above the level of surrounding skin and creating a raised, reddish, moist, and bumpy surface.","id":"HP:6000956","name":"Exuberant granulation tissue","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypergranulating wound"},{"scope":"EXACT","text":"Overgranulation"}]} +{"alt_ids":[],"definition":"A small (less than 5 mm in diameter), elevated, circumscribed, solid, palpable mass located in thte mucosa of the oral cavity.","id":"HP:6000957","name":"Oral mucosal papule","obsolete":false,"parents":["HP:3000019"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally increased degree of goose bump formation, that is, of involuntary formation of bumps on a person's skin at the base of body hairs.","id":"HP:6000958","name":"Excessive piloerection","obsolete":false,"parents":["HP:0025276"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Excessive cutis anserina"},{"scope":"EXACT","text":"Excessive goose bumps"}]} +{"alt_ids":[],"definition":"A palpable swelling in the scalp caused by an increase in interstitial fluid volume (excess fluid).","id":"HP:6000959","name":"Scalp edema","obsolete":false,"parents":["HP:0000969","HP:0001965"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A slightly raised and often reddish serpentine or curvilinear path in the skin.","id":"HP:6000960","name":"Serpiginous burrow","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of rabies nucleic acid in brain tissue by a method such as polymerase chain reaction.","id":"HP:6000961","name":"Positive brain-tissue rabies nucleic acid test","obsolete":false,"parents":["HP:0430030"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of Bordetella pertussis PCR nucleic acid in in nasopharyngeal secretions by a method such as polymerase chain reaction.","id":"HP:6000962","name":"Positive respiratory tract Bordetella pertussis nucleic acid test","obsolete":false,"parents":["HP:6000836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Demonstration of acid-fast bacilli by microscopic examination of wound tissue. Acid fastness is a physical property that gives a bacterium the ability to resist decolorization by acids during staining procedures.","id":"HP:6000963","name":"Demonstration of acid-fast bacilli in wound tissue","obsolete":false,"parents":["HP:0430030"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Identification of encapsulated budding yeasts in smears of body fluids, secretions, exudates, or other specimens.","id":"HP:6000964","name":"Positive tissue encapsulated budding yeast test","obsolete":false,"parents":["HP:0430030"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Growth of coccidioidomycosis in a culture derived from skin or an organ.","id":"HP:6000965","name":"Positive tissue coccidioidomycosis culture","obsolete":false,"parents":["HP:0430030"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of dihydropteridine reductase (EC 1.6.99.7) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and erythrocytes.","id":"HP:6000966","name":"Diminished tissue dihydropteridine reductase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of transcobalamin-1 in the blood circulation is below the lower limit of normal.","id":"HP:6000967","name":"Decreased circulating transcobalamin-1 concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased circulating R vitamin B12 binder protein concentration"},{"scope":"EXACT","text":"Decreased circulating cobalophilin concentration"},{"scope":"EXACT","text":"Decreased circulating haptocorrin concentration"},{"scope":"EXACT","text":"Decreased transcobalamin-1 concentration"},{"scope":"EXACT","text":"Decreased transcobalamin-1 level"},{"scope":"EXACT","text":"Decreased transcobalamin-1 level in blood"},{"scope":"EXACT","text":"Reduced transcobalamin-1 concentration"},{"scope":"EXACT","text":"Reduced transcobalamin-1 level"},{"scope":"EXACT","text":"Reduced transcobalamin-1 level in blood"}]} +{"alt_ids":[],"definition":"The concentration of cationic trypsinogen in the blood circulation is below the lower limit of normal.","id":"HP:6000968","name":"Decreased circulating cationic trypsinogen concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased serine protease 1 concentration"},{"scope":"EXACT","text":"Decreased serine protease 1 level"},{"scope":"EXACT","text":"Decreased serine protease 1 level in blood"},{"scope":"EXACT","text":"Reduced serine protease 1 concentration"},{"scope":"EXACT","text":"Reduced serine protease 1 level"},{"scope":"EXACT","text":"Reduced serine protease 1 level in blood"}]} +{"alt_ids":[],"definition":"The activity or concentration of hyaluronidase in the blood circulation is below the lower limit of normal.","id":"HP:6000969","name":"Diminished circulating hyaluronidase activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Rate of proteoglycan sulfation (sulfotransferase activity) is below the lower limit of normal in cultured fibroblasts.","id":"HP:6000970","name":"Diminished sulfotransferase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of alpha-N-acetylglucosaminidase (EC 3.2.1.50) above the upper limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. It is also known as alpha-acetylglucosaminidase, N-acetyl-alpha-D-glucosaminidase, N-acetyl-alpha-glucosaminidase, and alpha-D-2-acetamido-2-deoxyglucosidase.","id":"HP:6000971","name":"Elevated tissue alpha-N-acetylglucosaminidase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of alpha-N-acetylglucosaminidase (EC 3.2.1.50) outside of the limits of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. It is also known as alpha-acetylglucosaminidase, N-acetyl-alpha-D-glucosaminidase, N-acetyl-alpha-glucosaminidase, and alpha-D-2-acetamido-2-deoxyglucosidase.","id":"HP:6000972","name":"Abnormal tissue alpha-N-acetylglucosaminidase activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of trihydroxycholestanoic acid in the blood circulation is above the upper limit of normal.","id":"HP:6000973","name":"Elevated circulating trihydroxycholestanoic acid concentration","obsolete":false,"parents":["HP:0011013"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating THCA concentration"}]} +{"alt_ids":[],"definition":"The concentration of glyoxylic acid in the blood circulation is above the upper limit of normal.","id":"HP:6000974","name":"Elevated circulating glyoxylic acid concentration","obsolete":false,"parents":["HP:0010996"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of sepiapterin in the cerebrospinal fluid (CSF) above the upper limit of normal.","id":"HP:6000975","name":"Elevated CSF sepiapterin concentration","obsolete":false,"parents":["HP:0040207"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Nuclear or cytoplasmic aggregates of stainable substances within hepatocytes.","id":"HP:6000976","name":"Intrahepatic inclusion bodies","obsolete":false,"parents":["HP:0410042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.","id":"HP:6000977","name":"Muscle vacuoles","obsolete":false,"parents":["HP:0004303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, non-rimmed vacuoles lack the prominent dark border (rim) seen in rimmed vacuoles.","id":"HP:6000978","name":"Nonrimmed muscle vacuoles","obsolete":false,"parents":["HP:0004303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity or concentration of glycogen phosphorylase L in the liver below the lower limit of normal.","id":"HP:6000979","name":"Reduced hepatic glycogen phosphorylase activity","obsolete":false,"parents":["HP:0034685"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the bone marrow.","id":"HP:6000980","name":"Bone marrow hemophagocytosis","obsolete":false,"parents":["HP:0012156"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Splenic inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.","id":"HP:6000981","name":"Splenic granulomatosis","obsolete":false,"parents":["HP:0002955","HP:0025408"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Loss of erection at the time point of pain or other symptom onset.","id":"HP:6000982","name":"Immediate detumescence of penis at time of symptom onset","obsolete":false,"parents":["HP:0010461"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of having received a surgical replacement of the aortic valve.","id":"HP:6000983","name":"History of aortic valve replacement","obsolete":false,"parents":["HP:0034420"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An ST-segment elevation of at least 2 mm in at least one right precordial lead (V1 to V3), followed by an r'-wave and a concave or straight ST segment. The descending ST segment crosses the isoelectric line and is followed by a negative and symmetric T-wave.","id":"HP:6000984","name":"Coved type ST segment elevation","obsolete":false,"parents":["HP:0012251"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An ST-segment elevation of at least 0.5 mm (generally at least 2 mm in V2) in at least one right precordial lead (V1 to V3), followed by a convex ST. The r'-wave may or may not overlap the J point, but it has a slow downward slope. The ST segment is followed by a positive T-wave in V2 and is of variable morphology in V1.","id":"HP:6000985","name":"Saddle-back type ST segment elevation","obsolete":false,"parents":["HP:0012251"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A blood concentration of ethanol that is consistent with alcohol intoxication, generally assumed to be 0.0800 g/dL or higher.","id":"HP:6000986","name":"Substantially elevated circulating ethanol concentration","obsolete":false,"parents":["HP:0410172"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal twisting or winding of the stomach.","id":"HP:6000987","name":"Tortuous appearance of the stomach","obsolete":false,"parents":["HP:0002577"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental defect causing an absence of the cochlear nerve resulting in sensorineural hearing loss.","id":"HP:6000988","name":"Cochlear nerve aplasia","obsolete":false,"parents":["HP:0011396"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally small lateral ventricle with a slit-like appearance.","id":"HP:6000989","name":"Slit-like lateral ventricle","obsolete":false,"parents":["HP:0030047"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A history of exposure during pregnancy (including during the period of conception) of the mother of a fetus or child to methamphetamine.","id":"HP:6000990","name":"Fetal methamphetamine exposure","obsolete":false,"parents":["HP:0034756"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Antenatal methamphetamine exposure"},{"scope":"EXACT","text":"Antenatal methamphetamine use"},{"scope":"EXACT","text":"Fetal meth exposure"},{"scope":"EXACT","text":"Methamphetamine use during pregnancy"},{"scope":"EXACT","text":"Prenatal methamphetamine exposure"},{"scope":"EXACT","text":"Prenatal methamphetamine use"}]} +{"alt_ids":[],"definition":"Concentration of 4-hydroxybutyric acid in the blood circulation above the upper limit of normal.","id":"HP:6000991","name":"Elevated circulating 4-hydroxybutyric acid concentration","obsolete":false,"parents":["HP:0033417"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of 2,4-dihydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000992","name":"Elevated urinary 2,4-dihydroxybutyric acid level","obsolete":false,"parents":["HP:0033303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A higher than normal tendency of parasympathomimetic agents to induce miosis.","id":"HP:6000993","name":"Pupillary hypersensitivity to parasympathomimetic agents","obsolete":false,"parents":["HP:0007686"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"4-hydroxyamphetamine is used in eye drops to dilate the pupil, e.g.., to induce mydriasis for fundus examinations. This term refers to a lack of response of the pupil to topical application of 4-hydroxyamphetamine.","id":"HP:6000994","name":"Lack of pupillary response to hydroxyamphetamine","obsolete":false,"parents":["HP:0007686"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal morphology of subcortical U fibers, typically as assessed by abnromal intensity on magnetic resonance imaging of the brain.","id":"HP:6000995","name":"Subcortical U fiber lesion","obsolete":false,"parents":["HP:0010993"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Subcortical U fiber involvement"}]} +{"alt_ids":[],"definition":"A lipoma (a benign encapsulated mass with lobulated mature adipose tissue enclosed by fibrous tissue) located within the spine but outside of the dura mater.","id":"HP:6000996","name":"Intraspinal extradural lipoma","obsolete":false,"parents":["HP:6000590"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal enlargement or swelling localized to the nasal cavity. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.","id":"HP:6000997","name":"Intranasal mass","obsolete":false,"parents":["HP:0010640"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Subcapsular hepatic rupture is characterized by the development of a hematoma, often quite large, beneath the liver capsule. An interval of days or hours may elapse between the time of injury and the first appearance of symptoms. A history of injury may be entirely lacking, or may be so unremarkable that it is elicited only by diligent interrogation. The hematoma tends to increase in size.","id":"HP:6000998","name":"Liver rupture","obsolete":false,"parents":["HP:0410042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of mandelic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6000999","name":"Elevated urinary mandelic acid","obsolete":false,"parents":["HP:0033303"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of malic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6001000","name":"Elevated urine malic acid level","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of 3-hydroxysebacic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6001001","name":"Elevated urine 3-hydroxysebacic acid level","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of vanillactic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6001002","name":"Elevated urinary vanillactic acid level","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of 4,5-dihydroxyhexanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6001003","name":"Elevated urine 4,5-dihydroxyhexanoic acid level","obsolete":false,"parents":["HP:0040156"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of hydroxyphenyllactic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6001004","name":"Elevated urine hydroxyphenyllactic acid level","obsolete":false,"parents":["HP:0033098"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Demonstration of the presence of cytomegalovirus in the stomach by means of a method such as in-situ hybridization.","id":"HP:6001005","name":"Positive gastric CMV intranuclear inclusions","obsolete":false,"parents":["HP:0020068","HP:0430030"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of dihydroxycholestanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6001006","name":"Elevated urine dihydroxycholestanoic acid level","obsolete":false,"parents":["HP:0031979"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated urine DHCA level"}]} +{"alt_ids":[],"definition":"The amount of bile alcohol in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6001007","name":"Elevated urinary bile alcohol level","obsolete":false,"parents":["HP:6000531"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of glucose tetrasaccharide in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6001008","name":"Elevated urine glucose tetrasaccharide level","obsolete":false,"parents":["HP:0010471"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of 4-hydroxy-2-oxoglutarate in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6001009","name":"Increased urine 4-hydroxy-2-oxoglutarate level","obsolete":false,"parents":["HP:0001992"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lack of ability to purse or pucker the lips.","id":"HP:6001010","name":"Inability to protrude lips","obsolete":false,"parents":["HP:0030319"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Wet voice is a perceptual vocal quality that is gurgly or liquid sounding and is due to the voice being produced through moisture. It is commonly used as an indicator of penetration and/or aspiration in clinical swallowing assessments and bedside screening tests.","id":"HP:6001011","name":"Wet voice","obsolete":false,"parents":["HP:0001608"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An erythematous (pink-red, depending on the skin color of the affected individual) macule that spreads peripherally and coalesces to form polycyclic or serpentine patches or plaques. Lesions occur in crops over days to weeks and are evanescent. The rate of migration is 2 to 12 mm over a period of a few hours. Erythema marginatum tends to affect the trunk more than the extremities and to not be accompanied by pruritus.","id":"HP:6001012","name":"Erythema marginatum","obsolete":false,"parents":["HP:0010783"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Mechanic's hands are fissured, erythematous, hyperkeratotic eruptions on the hands, resembling the type of occupational dermatosis said to resemble the hands of a manual laborer. The lesions are classically on the lateral edges of the fingers and thumbs, largely sparing the palmar, and dorsal aspects of the digits.","id":"HP:6001013","name":"Mechanic's hands","obsolete":false,"parents":["HP:0010765"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hyperkeratotic scaly fissured plaques on the fingers/palms or soles, generally more evident on the lateral aspect of index fingers.","id":"HP:6001014","name":"Hiker's feet","obsolete":false,"parents":["HP:0007556"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen (HLA-DQ). DQ is one of several antigens involved in antibody-mediated rejection of organ transplants.","id":"HP:6001015","name":"Anti-HLA-DQ antibody positivity","obsolete":false,"parents":["HP:0034018"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Erythropoietin is produced and released into the blood by the kidneys in response to hypoxemia, and would normally be expected to increase with decreasing hemoglobin levels. This term applies if the increase fails to occur, as may be seen in conditions including chronic kidney disease.","id":"HP:6001016","name":"Inappropriate normal or low erythropoietin","obsolete":false,"parents":["HP:0034442"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A condition in which food moves through the stomach into the small intestine at an abnormally fast rate.","id":"HP:6001017","name":"Rapid gastric emptying","obsolete":false,"parents":["HP:0030896"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dumping syndrome"}]} +{"alt_ids":[],"definition":"Abnormal deposition of calcium in mediastinal lymph nodes.","id":"HP:6001018","name":"Mediastinal lymph node calcification","obsolete":false,"parents":["HP:0002733"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Calcified mediastinal lymph nodes"}]} +{"alt_ids":[],"definition":"Eggshell calcification refers to fine calcification seen at the periphery of a mass and usually relates to lamellar lymph node calcification.","id":"HP:6001019","name":"Eggshell calcification of lymph nodes","obsolete":false,"parents":["HP:0002733"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Peripheral calcification of lymph nodes"}]} +{"alt_ids":[],"definition":"Abnormal accumulation of fluid within the knee joint or around the knee. Symptoms maye include, pain, swelling, and stiffness.","id":"HP:6001020","name":"Knee joint effusion","obsolete":false,"parents":["HP:0034669"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Skin emphysema/Subcutaneous emphysema occurs when gas or air accumulates and seeps under the skin, where normally no gas should be present. While the presence of air in subcutaneous or mediastinal tissue is not dangerous in itself, prompt recognition of the underlying cause is essential.","id":"HP:6001021","name":"Subcutaneous emphysema","obsolete":false,"parents":["HP:0011124"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Skin emphysema"}]} +{"alt_ids":[],"definition":"Bone scintigraph is performed with technetium 99m-labeled diphosphonates. The uptake of these radiopharmaceuticals depicts osteoblastic activity and regional blood flow to bone.","id":"HP:6001022","name":"Elevated bone scintigraphy uptake","obsolete":false,"parents":["HP:0011842"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bone scan (scintigraphy): abnormally increased uptake"},{"scope":"EXACT","text":"Increase bone scan uptake"}]} +{"alt_ids":[],"definition":"Concentration or activity of long-chain-enoyl-CoA hydratase (EC 4.2.1.74) as measured in cultured fibroblasts is below the limits of normal.","id":"HP:6001023","name":"Diminished long-chain-enoyl-CoA hydratase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration or activity of acetyl-CoA C-acyltransferase (EC 2.3.1.16) as measured in cultured fibroblasts is below the limits of normal. This enzyme catalyzes the reaction acetyl-CoA + an acyl-CoA = a 3-oxoacyl-CoA + CoA. It is also known as 3-ketoacyl-CoA thiolase and beta-ketothiolase.","id":"HP:6001024","name":"Diminished acetyl-CoA C-acyltransferase activity in cultured fibroblasts","obsolete":false,"parents":["HP:4000195"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced 3-ketoacyl-CoA thiolase activity in cultured fibroblasts"}]} +{"alt_ids":[],"definition":"Pathological inclusion bodies are are composed of glycogen, proteins, nucleic acids, lipids, hemosiderin, and calcium, that accumulate as metabolic by-products, catabolic products of macromolecular complexes, or in the context of cell injury.","id":"HP:6001025","name":"Pathological inclusion body","obsolete":false,"parents":["HP:0025461"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Diminished or absent collagen alpha5(IV) chain staining pattern in the epidermal basement membrane.","id":"HP:6001026","name":"Reduced epidermal collagen IV alpha 5 chain staining","obsolete":false,"parents":["HP:0031512"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal reduction in the amount of the alpha 3 chain of collagen IV in the basement membrane of the glomeruli of the kidney.","id":"HP:6001027","name":"Diminished glomerular basement membrane collagen IV alpha 3 chain staining","obsolete":false,"parents":["HP:0033282"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal reduction in the amount of the alpha 4 chain of collagen IV in the basement membrane of the glomeruli of the kidney.","id":"HP:6001028","name":"Diminished glomerular basement membrane collagen IV alpha 4 chain staining","obsolete":false,"parents":["HP:0033282"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal reduction in the amount of the alpha 5 chain of collagen IV in the basement membrane of the glomeruli of the kidney.","id":"HP:6001029","name":"Diminished glomerular basement membrane collagen IV alpha 5 chain staining","obsolete":false,"parents":["HP:0033282"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:6001030","name":"obsolete Peripheral nerve metachromasia","obsolete":true,"parents":[],"replaced_by":["HP:6000079"],"synonyms":[]} +{"alt_ids":[],"definition":"A cystine stone is a type of kidney stone that is yellowish brown with a granular surface. They are observed in individuals with Cystinuria and tend to be of early onset, to occur repeatedly, and to be associated with urinary tract infections.","id":"HP:6001031","name":"Cystine nephrolithiasis","obsolete":false,"parents":["HP:0000787"],"replaced_by":[],"synonyms":[{"scope":"RELATED","text":"Yellowish brown character to kidney stone suggestive of cystine"}]} +{"alt_ids":[],"definition":"Accumulation of cystine in the liver.","id":"HP:6001032","name":"Hepatic cystine accumulation","obsolete":false,"parents":["HP:0030146"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of cystine crystals in bone marrow cells as demonstrated in a fresh bone marrow aspiration sample.","id":"HP:6001033","name":"Bone marrow cystine accumulation","obsolete":false,"parents":["HP:0005561"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Desmoid tumors are rare, locally aggressive, fibroblastic soft-tissue tumors that are characterized by infiltrative growth and tendency to recur. Desmoid tumors do not metastasize but can arise in any part of the body: extra-abdominal (appear in the head and neck, chest, extremities), and abdominal wall or intra-abdominal (originating in tissue that connects abdominal organs).","id":"HP:6001034","name":"Desmoid tumor","obsolete":false,"parents":["HP:0031459"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aggressive fibromatosis"},{"scope":"EXACT","text":"Desmoid-type fibromatosis"}]} +{"alt_ids":[],"definition":"A segment of the jejunum that runs parallel to the normal jejunum and communicates with the jejunal lumen at one or both ends.","id":"HP:6001035","name":"Tubular jejunal duplication","obsolete":false,"parents":["HP:0005265"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A full thickness tear or breakage of the myocardium of the left ventricle.","id":"HP:6001036","name":"Left ventricular rupture","obsolete":false,"parents":["HP:0001637","HP:0001711"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Multiple punctate (speckled, patchy spot-like) and/or curvilinear areas of gadolinium enhancement distributed around blood vessels in the pons.","id":"HP:6001037","name":"Punctate pontine perivascular enhancement","obsolete":false,"parents":["HP:0007361"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Presence of one or more adult worms in the intestine as demonstrated by sonography or passage of a worm in the stool. On sonography, worms may appear as linear, echogenic structures within the intestines.","id":"HP:6001038","name":"Intestinal worm","obsolete":false,"parents":["HP:0430030"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Demonstration of one or more worms in the scrotum. This finding can be appreciated by sonography, where echogenic, linear structures could be seen moving within the scrotum.","id":"HP:6001039","name":"Scrotal worm","obsolete":false,"parents":["HP:0430030"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Filaria dance sign"}]} +{"alt_ids":[],"definition":"A small bowel tumor with adenomatous epithelium.","id":"HP:6001040","name":"Small intestinal adenoma","obsolete":false,"parents":["HP:0100833"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Mottling (spots or blotches with different shades) of the retinal pigment epithelium in the mother of the index patient. Retinal mottling may indicate a mosaic X-linked inactivation state in the mother.","id":"HP:6001041","name":"Maternal retinal mottling","obsolete":false,"parents":["HP:0002686"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A stretched conical-shaped structure found at the gallbladder neck with several linear echoes converging towards its tip. This finding is demonstrated by sonography and can indicate gallbladder volvulus.","id":"HP:6001042","name":"Twisted gallbladder pedicle","obsolete":false,"parents":["HP:0012437"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Conical structure at the gallbladder neck"}]} +{"alt_ids":[],"definition":"Fistula between the gallbladder and the intestine.","id":"HP:6001043","name":"Cholecyst-enteric fistula","obsolete":false,"parents":["HP:0012437"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Impaired ability to accurately measure or estimate time intervals.","id":"HP:6001044","name":"Dyschronometria","obsolete":false,"parents":["HP:0010524"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of recently intermittent breastfeeding an infant (i.e., on and off).","id":"HP:6001045","name":"History of recent intermittent breastfeeding","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A benign, fluid-filled sac in the breast.","id":"HP:6001046","name":"Breast cyst","obsolete":false,"parents":["HP:0031093"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality whose distribution and appearance are well-defined and localized to a specific area.","id":"HP:6001047","name":"Circumscribed","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality that displays multiple indentations and/or elevations producing an irregular surface contour.","id":"HP:6001048","name":"Lobulated","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality with irregular, radiating, or spiky edges.","id":"HP:6001049","name":"Spiculated","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality whose distribution and appearance resembles series of a concentric circles or spirals.","id":"HP:6001050","name":"Whorled","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Delta brushes are transient patterns characterised by a slow delta wave with superimposed fast activity.","id":"HP:6001051","name":"Delta brush pattern on EEG","obsolete":false,"parents":["HP:0002353"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Fusion of the junction between the distal tibia, fibula and the talus.","id":"HP:6001052","name":"Tibiotalar synostosis","obsolete":false,"parents":["HP:0005928","HP:0005929","HP:0009140"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"he term given when a vertebral body has lost almost its entire height anteriorly and posteriorly, representing a very advanced compression fracture.","id":"HP:6001053","name":"Vertebra plana","obsolete":false,"parents":["HP:0002953"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pancake vertebra"},{"scope":"EXACT","text":"Silver dollar vertebra"}]} +{"alt_ids":[],"definition":"An abnormal gait caused by a rotational variation anywhere in the lower extremity that causes the foot to point inward, instead of pointing straight ahead or outward, when walking or running.","id":"HP:6001054","name":"Intoeing","obsolete":false,"parents":["HP:0001288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pigeon-toed"}]} +{"alt_ids":[],"definition":"A vibration felt upon palpation of a blood vessel over an extremity.","id":"HP:6001055","name":"Palpable thrill on extremity","obsolete":false,"parents":["HP:0025323"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The feet turn excessively outward when walking, caused by a rotational variation in the leg.","id":"HP:6001056","name":"Out-toeing","obsolete":false,"parents":["HP:0001288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duck feet"},{"scope":"EXACT","text":"External rotated feet"},{"scope":"EXACT","text":"Toeing out"}]} +{"alt_ids":[],"definition":"An abnormal separation between the talo-tibial joint.","id":"HP:6001057","name":"Ankle dislocation","obsolete":false,"parents":["HP:0030311"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neuronal intermediate filament.","id":"HP:6001058","name":"Anti-neuronal intermediate filament antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the serum that react against dendritic spine scaffolding protein Drebrin.","id":"HP:6001059","name":"Anti-DREBRIN antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-lipoprotein lipase.","id":"HP:6001060","name":"Anti-lipoprotein lipase autoantibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-LPL autoantibody positivity"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies in the blood circulation that react against apoCII.","id":"HP:6001061","name":"Anti-apolipoprotein CII autoantibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-apoCII autoantibody positivity"}]} +{"alt_ids":[],"definition":"The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neurons that stain with eosin, a red or pink dye.","id":"HP:6001062","name":"Eosinophilic neuronal inclusion bodies","obsolete":false,"parents":["HP:0012757"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A characteristic smell said to resemble the odor of dirty socks.","id":"HP:6001063","name":"Sweaty foot-like odor","obsolete":false,"parents":["HP:0500001"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against acetylcholine receptor.","id":"HP:6001064","name":"Anti-acetylcholine receptor antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality that is located on hair shafts.","id":"HP:6001065","name":"Hair shaft lesion","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of use of tightly fitting shoes for a long period of time.","id":"HP:6001066","name":"Prolonged use of tightly fitting footwear","obsolete":false,"parents":["HP:4000110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to a sign or symptom that is provoked or brought about ingestion of high quantities of protein.","id":"HP:6001067","name":"Triggered by high protein intake","obsolete":false,"parents":["HP:0025204"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triggered by protein-rich foods"}]} +{"alt_ids":[],"definition":"An abnormally increased thickness of a leaflet of the tricuspid valve.","id":"HP:6001068","name":"Thickened tricuspid valve cusp","obsolete":false,"parents":["HP:0001702"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal shifting of the anterior fontanelle fropm its normal central position.","id":"HP:6001069","name":"Displaced anterior fontanelle","obsolete":false,"parents":["HP:0000236"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Displacement of the anterior fontanelle"}]} +{"alt_ids":[],"definition":"Accumulation of cerebral spinal fluid in the subdural space.","id":"HP:6001070","name":"Subdural hygroma","obsolete":false,"parents":["HP:0010651"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Incus ankylosis refers to congenital or acquired fixation of the incus, which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).","id":"HP:6001071","name":"Incus ankylosis","obsolete":false,"parents":["HP:0011453"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A tendency to reject a variety of foods and/or to eat a restricted range of foods.","id":"HP:6001072","name":"Excessive diet restriction","obsolete":false,"parents":["HP:4000123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Dyskinesis is used to describe ventricular muscle segments that bulge outside the left ventricular cavity during systole, as opposed to contracting inwards with the rest of the segments.","id":"HP:6001073","name":"Left ventricular apical dyskinesis","obsolete":false,"parents":["HP:0031482"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A longitudinal red band extending from the proximal nail fold or lunula to the distal nail plate.","id":"HP:6001074","name":"Longitudinal erythronychia","obsolete":false,"parents":["HP:0001597"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applied to a sign or symptom that is worsened by exposure to sunlight.","id":"HP:6001075","name":"Exacerbated by exposure to sunlight","obsolete":false,"parents":["HP:4000176"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aggravated by ultraviolet radiation exposure"}]} +{"alt_ids":[],"definition":"Applied to a sign or symptom that is made worse by exposure to heat (high ambient temperatures).","id":"HP:6001076","name":"Exacerbated by heat","obsolete":false,"parents":["HP:0025285"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Aggravated by high temperatures"}]} +{"alt_ids":[],"definition":"Applied to a sign or symptom that is made worse by excessive sweating.","id":"HP:6001077","name":"Exacerbated by excessive sweating","obsolete":false,"parents":["HP:0025285"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The accumulation of a significant amount of exudate in the pleural space, accompanied by the presence of malignant cells or tumour tissue.","id":"HP:6001078","name":"Malignant pleural effusion","obsolete":false,"parents":["HP:0002103"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Malignant cells in pleural fluid"}]} +{"alt_ids":[],"definition":"In diabetes insipidus, affected individuals produce large quantities of dilute urine. In nephrogenic DI, the kidneys do not respond to vasopressin. In a water deprivation test or with administration of exogenous vasopressin, the osmolaltiy of the urine does not increase as normally.","id":"HP:6001079","name":"Inappropriately low urine osmolality following challenge","obsolete":false,"parents":["HP:0033358"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally low ratio of tetrahydrocortisol (THF) plus 5-alpha-THF to tetrahydrocortisone (THE).","id":"HP:6001080","name":"Reduced urine tetrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratio","obsolete":false,"parents":["HP:0012029"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of 2,4-dihydroxyglutarate in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6001081","name":"Elevated urinary 2,4-dihydroxyglutarate level","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal result of the xylose absorption test that is used to assess the ability of the intestines to absorb D-xylose. D-xylose is a five-carbon monosaccharide found in some plants. The patient drinks a solution containing a specific amount of D-xylose and the concentration of xylose is measured in the blood circulation and then in the urine. A low amount of D-xylose indicates reduced small intestinal absorbtion.","id":"HP:6001082","name":"Abnormal urine D-xylose test","obsolete":false,"parents":["HP:0012719"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal growth or accumulation of tissue in a hemisphere of the cerebrum. Typically a mass is an initial finding that will lead to additional workup.","id":"HP:6001083","name":"Cerebral hemisphere mass lesion","obsolete":false,"parents":["HP:0002060"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased signal on T2 magnetic resonance imaging characterized by a linear region of high signal surrounding the lateral aspect of the putamen at 1.5 Tesla.","id":"HP:6001084","name":"T2-hyperintense putaminal rim","obsolete":false,"parents":["HP:0031982"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal growth or accumulation of tissue in the posterior fossa, affecting the cerebellum or fourth ventricle. Typically a mass is an initial finding that will lead to additional workup.","id":"HP:6001085","name":"Posterior fossa mass lesion","obsolete":false,"parents":["HP:0000932"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal increased variability in the timing between consecutive R-waves on an electrocardiogram.","id":"HP:6001086","name":"Irregular RR interval","obsolete":false,"parents":["HP:0003115"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormally increased variability in the timing between consecutive P-waves on an electrocardiogram.","id":"HP:6001087","name":"Irregular P-P interval","obsolete":false,"parents":["HP:0003115"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Demonstration of fungi growing on hair by a method such as microscopy of hairs mounted on slides with 10% potassium hydroxide.","id":"HP:6001088","name":"Fungal hair infection","obsolete":false,"parents":["HP:0430030"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fungal infection of hair"}]} +{"alt_ids":[],"definition":"A past medical history of having long, full hair.","id":"HP:6001089","name":"Long hairstyle","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"fine white linear scars under intact conjunctival epithelium. This scarring appears in areas of previous conjunctival ulceration or pseudomembrane formation, weeks to months after the insult is healed.","id":"HP:6001090","name":"Conjunctival subepithelial fibrosis","obsolete":false,"parents":["HP:0000502"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal reduction in depth of the fornix of the conjunctiva. The fornix is the area where the conjunctiva folds back upon itself, thereby creating a recessed space.","id":"HP:6001091","name":"Conjunctival fornix foreshortening","obsolete":false,"parents":["HP:0000502"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of exposure to ultraviolet light, such as may be encountered with outdoor activities, living near equator, radiation.","id":"HP:6001092","name":"Strong ultraviolet light exposure","obsolete":false,"parents":["HP:4000110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A history of intravaginal cleansing with a liquid solution for personal hygiene or aesthetic reasons.","id":"HP:6001093","name":"Exposure to vaginal douching","obsolete":false,"parents":["HP:4000110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A history of applying oily lotions or creams to the skin.","id":"HP:6001094","name":"Exposure to oily lotions or creams","obsolete":false,"parents":["HP:4000110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of pristanic acid in the blood circulation above the upper limit of normal. This finding can be observed in Zellweger syndrome. Note that branched-chain fatty acid accumulation depends on dietary intake of phytanic acid, which is minimal in formula- and breast-fed infants. Thus, phytanic and pristanic acid levels are normal in a neonate with Zellweger spectrum disorder.","id":"HP:6001095","name":"Elevated circulating pristanic acid concentration following branched-chain fatty acid ingestion","obsolete":false,"parents":["HP:0010964"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduction in the level of ZAP-70 protein CD4-positive T cells.","id":"HP:6001096","name":"Decreased CD4+ T cell ZAP-70 protein expression","obsolete":false,"parents":["HP:0002843"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased T-cell ZAP-70 protein expression in CD4-positive T cells"}]} +{"alt_ids":[],"definition":"A type of contracture in which the dorsal flexion muscles of the ankle are contracted.","id":"HP:6001097","name":"Dorsal flexion contracture of the ankle","obsolete":false,"parents":["HP:0034677"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dorsiflexion contracture of the ankle"}]} +{"alt_ids":[],"definition":"Lack of the normal diaphyseal constriction (thinning of long bones toward the midshaft area) giving the submetaphyseal areas an abnormally wide appearance.","id":"HP:6001098","name":"Metaphyseal undermodelling","obsolete":false,"parents":["HP:0000944"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Metaphyseal modeling defect"},{"scope":"EXACT","text":"Undermodelled metaphyses"}]} +{"alt_ids":[],"definition":"Compression of the common iliac vein against the spine by the contralateral common iliac artery.","id":"HP:6001099","name":"Iliac vein compression","obsolete":false,"parents":["HP:0002624"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of abnormal amyloid deposits in the body by 123I-labeled serum amyloid P component (SAP) scintigraphy.","id":"HP:6001100","name":"Positive serum amyloid P scintigraphy","obsolete":false,"parents":["HP:0011034"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive SAP scan"}]} +{"alt_ids":[],"definition":"Motor and/or sensory cranial nerve findings ipsilateral to the lesion, and at the same time motor and/or sensory findings on the contralateral side of the body.","id":"HP:6001101","name":"Crossed brainstem sign","obsolete":false,"parents":["HP:0011442"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced ability to inflate the cheeks by blowing air into them while keeping the lips closed.","id":"HP:6001102","name":"Inability to puff cheeks","obsolete":false,"parents":["HP:0030319"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Visual sensations caused by changes within the eye itself, rather than by the normal light stimulation process. Entoptic phenomena are classified in the syndrome as floaters, blue field entoptic phenomenon, photopsia and self-light of the eye.","id":"HP:6001103","name":"Entoptic phenomenon","obsolete":false,"parents":["HP:0000504"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Entoptic phenomenona"}]} +{"alt_ids":[],"definition":"An abnormality of the vestibulospinal (VS) reflexes, which contribute to the control of postural orientation. In this task, they continuously collaborate with reflexes elicited by stimulation of visual and somatosensory receptors. Labyrinthine receptors are sensitive to modifications (i) of the head position with respect to the earth vertical or (ii) of the angular/linear velocity of head motion in space. This information can be used to monitor deviations from the maintained body position.","id":"HP:6001104","name":"Abnormal vestibulo-spinal reflex","obsolete":false,"parents":["HP:0001751"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal result of the probe-to-bone (PTB) test. The PTB test is performed by inserting a sterile, metal surgical probe into the ulcer and is positive if a hard, gritty surface is felt inside. For large wounds, this may require gentle exploration of the wound with the probe.","id":"HP:6001105","name":"Positive probe-to-bone test","obsolete":false,"parents":["HP:0032674"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal probe-to-bone test"}]} +{"alt_ids":[],"definition":"A history of exposure to repetitive impact on palm or hand, such as working with a jackhammer.","id":"HP:6001106","name":"Exposure to repetitive hand impact","obsolete":false,"parents":["HP:4000110"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Use of vibratory tools"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the scaphoid bone.","id":"HP:6001107","name":"Fractured scaphoid bone","obsolete":false,"parents":["HP:0041248"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Scaphoid bone fracture"},{"scope":"EXACT","text":"Scaphoid fracture"}]} +{"alt_ids":[],"definition":"Resistance to the effects of local anaesthesia, with delayed onset or failure of local anesthetics to incude numbness or relieve pain.","id":"HP:6001108","name":"Local anesthetic ineffectiveness","obsolete":false,"parents":["HP:0001311"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applied to lesions whose distribution is confined or restricted to the palms of the hands and soles of the feet.","id":"HP:6001109","name":"Palmoplantar location","obsolete":false,"parents":["HP:0012838"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A raised, flat-topped lesion with a diameter of one centimeter or more that is located in the mucosa of the mouth.","id":"HP:6001110","name":"Oral mucosa plaque","obsolete":false,"parents":["HP:0011830"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of rabies nucleic acid in saliva by a method such as polymerase chain reaction.","id":"HP:6001111","name":"Positive saliva rabies nucleic acid test","obsolete":false,"parents":["HP:6000579"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity of arylsulfatase A (EC 3.1.6.8) above the upper limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts and leukocytes or in the blood circulation.","id":"HP:6001112","name":"Elevated tissue arylsulfatase A activity","obsolete":false,"parents":["HP:6000231"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of a methysterol in the blood circulation is above the upper limit of normal.","id":"HP:6001113","name":"Elevated circulating methysterol concentration","obsolete":false,"parents":["HP:0003119"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The amount of adipic acid in the urine, normalized for urine concentration, is above the upper limit of normal. Adipic acid is an alpha,omega-dicarboxylic acid that is the 1,4-dicarboxy derivative of butane.","id":"HP:6001114","name":"Elevated urinary adipic acid","obsolete":false,"parents":["HP:0003215"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Slow-wave activity observed in the temporal area of the scalp electro-encephalogram (EEG).","id":"HP:6001115","name":"EEG with temporal slowing","obsolete":false,"parents":["HP:0010843"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"EEG with slow activity in temporal lobes"},{"scope":"EXACT","text":"EEG with slow-wave activity involving the temporal lobes"}]} +{"alt_ids":[],"definition":"Medical history of the hand having come into contact with the nozzle of a high-pressure injecting system such as a paint gun or air compressor.","id":"HP:6001116","name":"History of high-pressure injection injury of the hand","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Excessively long styloid process of the ulna.","id":"HP:6001117","name":"Hypertrophic ulnar styloid process","obsolete":false,"parents":["HP:0040071"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ulnar styloid large"}]} +{"alt_ids":[],"definition":"A history of placement of a peripehral venous catheter in the hours, days, or weeks before the current presenting complaint.","id":"HP:6001118","name":"History of recent peripheral venous catheter","obsolete":false,"parents":["HP:4000144"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Exudation of a thick, opaque fluid from a wound or skin lesion, typically as a result of infection and draining pus, i.e., dead white blood cells, bacteria, and tissue debris.","id":"HP:6001119","name":"Purulent drainage from skin","obsolete":false,"parents":["HP:0011123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A history of exposure of fingers by putting them in other peoples' mouths occupationally, e.g., as a dentist or physician.","id":"HP:6001120","name":"Occupational history of putting fingers in other people's mouths","obsolete":false,"parents":["HP:0035010"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to an abnormality whose distribution and appearance are limited to or predominantly affect a single finger.","id":"HP:6001121","name":"Single-finger involvement","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Single finger involvement"}]} +{"alt_ids":[],"definition":"Applies to an abnormality whose distribution and appearance affect more than one finger.","id":"HP:6001122","name":"Multiple-finger involvement","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Multiple finger involvement"}]} +{"alt_ids":[],"definition":"Exquisite tenderness in a specific region, beyond what one would surmise from examination.","id":"HP:6001123","name":"Pain disproportionate to abnormality on physical exam","obsolete":false,"parents":["HP:0025280"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Hypoplasia or aplasia of the greater or lesser wing of the sphenoid bone, typically resulting in widening of the superior orbital fissure, elevation of the [lesser sphenoid wing, and ipsilateral orbital enlargement.","id":"HP:6001124","name":"Sphenoid wing dysplasia","obsolete":false,"parents":["HP:0011821"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An injury in which skin and underlying tissues are cut or torn.","id":"HP:6001125","name":"Skin laceration","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A partial or complete breakage of a metacarpal bone.","id":"HP:6001126","name":"Metacarpal fracture","obsolete":false,"parents":["HP:0004277"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fractured metacarpal bone"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort localized to the base of the thumb, over thenar eminence or thumb metacarpal.","id":"HP:6001127","name":"Pain at the base of the thumb","obsolete":false,"parents":["HP:0046505"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Medical history of participation in sports (football, basketball, soccer, skiing) in the hours, days, or weeks prior to the current presenting complaint.","id":"HP:6001128","name":"History of recent participation in athletics","obsolete":false,"parents":["HP:4000144"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of trauma months to years ago, including but not limited to fracture or other orthopedic injury at the symptomatic area.","id":"HP:6001129","name":"Remote trauma history","obsolete":false,"parents":["HP:4000110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An inflammatory condition of the joint that connects the far ends of the radius and the ulna, known as the distal radioulnar joint (DRUJ). DRUJ arthritis may be characterized by widening of the DRUJ interval, volar/dorsal displacement of the distal ulna, radiographic evidence of osteoarthritis at the DRUJ joint including osteophytes, subchondral cysts, subchrondal sclerosis, and joint space narrowing.","id":"HP:6001130","name":"Distal radioulnar joint arthritis","obsolete":false,"parents":["HP:0003059"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Arthritis of the distal radioulnar joint"},{"scope":"EXACT","text":"DRUJ arthritis"}]} +{"alt_ids":[],"definition":"Fracture of the proximal end of the radius involving the radial head.","id":"HP:6001131","name":"Radial head fracture","obsolete":false,"parents":["HP:0003978"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An injury to the lateral collateral ligament (LCL) of the elbow. The LCL is a complex capsuloligamentous structure critical in stabilizing the ulnohumeral and radiocapitellar articulations. LCL injury can result in elbow instability, allowing the proximal radius and ulna to externally rotate away from the humerus as a supination stress is applied to the forearm.","id":"HP:6001132","name":"Elbow lateral collateral ligament tear","obsolete":false,"parents":["HP:0020300"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lateral ulnar collateral ligament tear"},{"scope":"EXACT","text":"Ligamentous tear on the lateral aspect of the elbow"}]} +{"alt_ids":[],"definition":"An injury to the medial collateral ligament (MCL) of the elbow.","id":"HP:6001133","name":"Elbow medial collateral ligament tear","obsolete":false,"parents":["HP:0020300"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ligamentous tear on the medial aspect of the elbow"}]} +{"alt_ids":[],"definition":"Fracture of the coronoid process on the proximal ulna.","id":"HP:6001134","name":"Coronoid fracture","obsolete":false,"parents":["HP:0003987"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A medical history of hving had a spinal cord injury prior to the presenting complaint.","id":"HP:6001135","name":"History of spinal cord injury","obsolete":false,"parents":["HP:4000110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Paresthesias in anterior/medial aspect of the thigh (anterior and medial cutaneous nerves of the thigh) and/or medial aspect of the lower leg and foot (saphenous distribution). May be accompanied by weakness in the quadriceps.","id":"HP:6001136","name":"Femoral nerve distribution","obsolete":false,"parents":["HP:0025849"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Breakage (tear) of the triceps tendon.","id":"HP:6001137","name":"Triceps tendon rupture","obsolete":false,"parents":["HP:0100550"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of having been treateed with digoxin.","id":"HP:6001138","name":"Digoxin exposure","obsolete":false,"parents":["HP:4000112"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Digitalis exposure"},{"scope":"EXACT","text":"Lanoxin exposure"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the upper arm.","id":"HP:6001139","name":"Upper arm pain","obsolete":false,"parents":["HP:0012513"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Proximal arm pain"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the capitulum of the humerus, which is a smooth, rounded eminence on the lateral portion of the distal articular surface of the humerus.","id":"HP:6001140","name":"Capitellum fracture","obsolete":false,"parents":["HP:0041055"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Capitellar fracture"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the anterior (front) part of the shoulder.","id":"HP:6001141","name":"Anterior shoulder pain","obsolete":false,"parents":["HP:0030834"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the front part of the elbow front part of the elbow, that is, on the ventral side of the arm where the arm bends.","id":"HP:6001142","name":"Pain at the anterior aspect of the elbow","obsolete":false,"parents":["HP:0030835"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Lateral elbow x-ray showing lucent crescent of fat that indicates a joint effusion in the elbow .","id":"HP:6001143","name":"Posterior fat pad sign of the elbow","obsolete":false,"parents":["HP:0020300"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the front part of the knee, that is, the side of the knee where the patella is located.","id":"HP:6001144","name":"Pain at the anterior aspect of the knee","obsolete":false,"parents":["HP:0030839"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back part of the knee, that is, opposite to the side of the knee where the patella is located.","id":"HP:6001145","name":"Pain at the posterior aspect of the knee","obsolete":false,"parents":["HP:0030839"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Biceps tendinitis is inflammation of the tendon around the long head of the biceps muscle.","id":"HP:6001146","name":"Biceps tendonitis","obsolete":false,"parents":["HP:0025230"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Biceps tendinitis"}]} +{"alt_ids":[],"definition":"Ultrasonography showing increased cross sectional area (CSA) of a peripheral nerve as it travels through a potential site of compression.","id":"HP:6001147","name":"Increased peripheral nerve cross sectional area","obsolete":false,"parents":["HP:0000759"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Peripheral nerve enlargement"},{"scope":"EXACT","text":"Peripheral nerve swelling"}]} +{"alt_ids":[],"definition":"Pain in extremity that worsens with joint is passively flexed.","id":"HP:6001148","name":"Pain exacerbated by passive flexion at joint","obsolete":false,"parents":["HP:0025280"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"With forearm fully supinated and elbow flexed to 90 degrees, examiner hooks a finger a bit around the distal biceps tendon at the anterior aspect of the elbow. Test is positive when there is lack of appreciable cord like structure to hook around.","id":"HP:6001149","name":"Positive hook test at the elbow","obsolete":false,"parents":["HP:0034430"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive O'Driscoll hook test"},{"scope":"EXACT","text":"Positive distal biceps hook test"}]} +{"alt_ids":[],"definition":"Manual downward pressure on the arm with the shoulders flexed forward to 90 degrees, elbows fully extended, and palm facing up recreates pain in the anterior shoulder region; named after Dr. Speed.","id":"HP:6001150","name":"Positive Speed's test","obsolete":false,"parents":["HP:0025823"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A disruption of the greater and lesser arcs of the lunate bone, with the lunate having a triangular silhouette, know as the piece of pie sign. Often caused by falling on an outstretched hand, patients will have tenderness to palpation over the dorsum of the wrist and may have sensory deficits in the median nerve distribution.","id":"HP:6001151","name":"Triangular lunate bone","obsolete":false,"parents":["HP:0004248"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Piece of pie sign of lunate bone"}]} +{"alt_ids":[],"definition":"Pain worsens with wrist ulnar or radial deviation.","id":"HP:6001152","name":"Pain exacerbated by wrist deviation","obsolete":false,"parents":["HP:0025280"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the side of the foot nearest to the little (fifth) toe.","id":"HP:6001153","name":"Pain on the lateral aspect of the foot","obsolete":false,"parents":["HP:0025238"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lateral foot pain"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the inner side of knee, that is, the region of the knee that faces the other knee.","id":"HP:6001154","name":"Pain at the medial aspect of the knee","obsolete":false,"parents":["HP:0030839"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the outer side of knee, that is, the region of the knee that faces away from the other knee.","id":"HP:6001155","name":"Pain at the lateral aspect of the knee","obsolete":false,"parents":["HP:0030839"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:6001156","name":"obsolete Synovial crystals","obsolete":true,"parents":[],"replaced_by":["HP:6000248"],"synonyms":[]} +{"alt_ids":[],"definition":"A history of exposure to frequent squatting/kneeling and/or heavy lifting.","id":"HP:6001157","name":"Occupational exposure to frequent kneeling","obsolete":false,"parents":["HP:0035010"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"History of frequent kneeling"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the structures around the greater trochanter (the bony prominence on the outer part of the femur).","id":"HP:6001158","name":"Trochanteric pain","obsolete":false,"parents":["HP:0030838"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lateral hip pain"},{"scope":"EXACT","text":"Pain at the lateral aspect of the hip"},{"scope":"EXACT","text":"Pain on the outside of the hip"}]} +{"alt_ids":[],"definition":"A noticeable lump or swelling in the arm or leg that you can feel with you fingers and this lump is beating or pulsating, similar to the feeling of a heartbeat.","id":"HP:6001159","name":"Pulsatile mass in extremity","obsolete":false,"parents":["HP:0040064"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any anomaly of the R wave of the EKG, which is the first upward deflection after the P wave. The R wave reflects early ventricular depolarisation.","id":"HP:6001160","name":"Abnormal R wave","obsolete":false,"parents":["HP:0003115"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the normal increase in size of the R wave in the precordial leads when advancing from lead V1 to V6 of the electrocardiogram.","id":"HP:6001161","name":"Poor R-wave progression","obsolete":false,"parents":["HP:6001160"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The R wave in leads V1-V2 is normally considerably smaller in amplitude than the S wave in the same leads. Prominent R wave in these leads implies the R wave is larger than the S-wave, which may indicate cardiovascular pathology. This term includes Tall R wave in lead V1, which is defined by a R/S ratio greater than 1.","id":"HP:6001162","name":"Prominent V1-V2 R wave","obsolete":false,"parents":["HP:6001160"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"High voltage R wave in V1/V2"},{"scope":"EXACT","text":"Prominent R wave in lead V1"}]} +{"alt_ids":[],"definition":"An abnormal enlargement or swelling localized to a finger.","id":"HP:6001163","name":"Finger mass","obsolete":false,"parents":["HP:0001167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bump on finger"},{"scope":"EXACT","text":"Finger growth"},{"scope":"EXACT","text":"Lump on finger"}]} +{"alt_ids":[],"definition":"An abnormal enlargement or swelling localized to a foot.","id":"HP:6001164","name":"Foot mass","obsolete":false,"parents":["HP:0001760"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bump on foot"},{"scope":"EXACT","text":"Foot growth"},{"scope":"EXACT","text":"Lump on foot"}]} +{"alt_ids":[],"definition":"A condition characterized by structural abnormalities of the retinal veins, including tortuosity, dilation, narrowing, or irregularities in branching patterns. These changes may be associated with systemic or ocular diseases such as retinal vein occlusion, diabetic retinopathy, or hypertensive retinopathy.","id":"HP:6001165","name":"Abnormal retinal vein morphology","obsolete":false,"parents":["HP:0008046"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Spongiosis refers to the increased intercellular edema in the epidermis resulting in the pulling away of the keratinocytes from their surrounding desmosomes. Histologically, the spongiotic tissue reaction pattern involves the accumulation of fluid in the intercellular spaces of the epidermis, making the desmosomes junctions more easy to appreciate. Parakeratosis forms above the areas of spongiosis. The foci of spongiosis can be microscopic to grossly identifiable clinically with vesicles or bullae.","id":"HP:6001166","name":"Spongiosis","obsolete":false,"parents":["HP:0011124"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A congenital finding where the adrenal gland does not form it's typical triangular, Y or V shape and is instead discoid, straight or elongated in shape. It is often found incidentally on renal ultrasound and is associated with renal agenesis and other renal congenital anomalies.","id":"HP:6001167","name":"Discoid adrenal gland","obsolete":false,"parents":["HP:0011732"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elongated adrenal gland"},{"scope":"EXACT","text":"Lying down adrenal gland"},{"scope":"EXACT","text":"Lying down adrenal sign"},{"scope":"EXACT","text":"Pancake adrenal gland"},{"scope":"EXACT","text":"Straight adrenal gland"}]} +{"alt_ids":[],"definition":"A structural abnormality in the blood vessels of the optic disc, including bleeding, tortuosity, dilation, shunting, or other unusual branching patterns.","id":"HP:6001168","name":"Abnormal optic disc vasculature morphology","obsolete":false,"parents":["HP:0012795"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Localization of symptoms such as numbness or paresthesias on the skin over the upper chest, specifically above the clavicle and over the lateral aspect of the neck, corresponding to the distribution of the supraclavicular nerve.","id":"HP:6001169","name":"Supraclavicular nerve distribution","obsolete":false,"parents":["HP:0025849"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Difficulty rotating the lower part of the arm towards the body (tested with the elbow flexed and the elbow held next to the side of the body or shoulder 90 degrees abducted to the side) secondary to pain, weakness, or mechanical block.","id":"HP:6001170","name":"Limited shoulder internal rotation","obsolete":false,"parents":["HP:0006467"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Shoulder internal rotation limited"}]} +{"alt_ids":[],"definition":"An anterior posterior (AP) shoulder radiograph shows distance between the the proximal aspect of the humeral head and inferior aspect of the acromion of less than 7 mm.","id":"HP:6001171","name":"Superior displacement of the humeral head","obsolete":false,"parents":["HP:0003887"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased acromiohumeral distance"},{"scope":"EXACT","text":"High-riding shoulder"},{"scope":"EXACT","text":"Proximal subluxation of the humeral head"}]} +{"alt_ids":[],"definition":"intracompartmental pressure (ICP) over 30 mmHg. Acute compartment syndrome occurs when there is increased pressure within a closed osteofascial compartment, resulting in impaired local circulation. Acute compartment syndrome is considered a surgical emergency since, without proper treatment, it can lead to ischemia and eventually necrosis. Generally, acute compartment syndrome is considered a clinical diagnosis. However, ICP over 30 mmHg can be used as a threshold to aid in diagnosis.","id":"HP:6001172","name":"Increased compartment pressure","obsolete":false,"parents":["HP:0011804"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pain localized to the radial aspect of the elbow.","id":"HP:6001173","name":"Pain at the lateral aspect of the elbow","obsolete":false,"parents":["HP:0030835"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lateral elbow pain"},{"scope":"EXACT","text":"Radial elbow pain"}]} +{"alt_ids":[],"definition":"Pain localized to the posterior aspect of the elbow.","id":"HP:6001174","name":"Pain at the posterior aspect of the elbow","obsolete":false,"parents":["HP:0030835"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pain localized to the medial aspect of the elbow.","id":"HP:6001175","name":"Pain at the medial aspect of the elbow","obsolete":false,"parents":["HP:0030835"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applies to the localization of findings corresponding to the distribution of the radial nevrve, such as (i)paresthesias on the dorsoradial aspect of the hand and wrist, including the dorsal thumb, index finger and middle finger and (ii) Weakness in elbow extension, wrist extension, finger extension, thumb extension and/or supination of the forearm.","id":"HP:6001176","name":"Radial nerve distribution","obsolete":false,"parents":["HP:0025849"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An osseous connection between the superomedial border of the right scapula and C5-C6 spinous processes.","id":"HP:6001177","name":"Omovertebral bone","obsolete":false,"parents":["HP:0000782"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Os omovertebrale"}]} +{"alt_ids":[],"definition":"Swelling on the chest between the neck and the shoulder, above the clavicel (collar bone).","id":"HP:6001178","name":"Clavicular edema","obsolete":false,"parents":["HP:0000969"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Clavicular swelling"},{"scope":"EXACT","text":"Edema localized around the clavicle"}]} +{"alt_ids":[],"definition":"The presence of antibodies in the cerebrospinal fluid (CSF) that react against a component of measles virus.","id":"HP:6001179","name":"Positive CSF anti-measles antibody test","obsolete":false,"parents":["HP:0430123"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated measles antibody titer in cerebrospinal fluid"}]} +{"alt_ids":[],"definition":"Vertical lines in the posterior stroma of the cornea, aligned with Descemet membrane. These lines temporarily disappear with pressure applied to the cornea. Vogt striae are a hallmark feature of keratoconus but have also been observed in healthy eyes. Rare cases of horizontal striae have been reported.","id":"HP:6001180","name":"Vogt striae","obsolete":false,"parents":["HP:0011492"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Corneal striae"},{"scope":"EXACT","text":"Vertical stromal lines"},{"scope":"EXACT","text":"Vogt's striae"}]} +{"alt_ids":[],"definition":"A condition characterized by an abnormal increase in the thickness of the choroid, which may be associated with various ocular or systemic conditions. Choroid thickening can be measured using imaging techniques such as optical coherence tomography (OCT).","id":"HP:6001181","name":"Choroid thickening","obsolete":false,"parents":["HP:0000610"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased choroidal thickness"},{"scope":"EXACT","text":"Pachychoroid"},{"scope":"EXACT","text":"Thickened choroid"}]} +{"alt_ids":[],"definition":"A condition characterized by accumulation of fluid within the corneal epithelium, leading to swelling, blurred vision, and discomfort. It is often associated with increased intraocular pressure, endothelial dysfunction, or contact lens overuse. Clinical features may include a hazy cornea and microcystic changes visible on slit-lamp examination.","id":"HP:6001182","name":"Corneal epithelial edema","obsolete":false,"parents":["HP:0011495"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bullous keratopathy"},{"scope":"EXACT","text":"Epithelial corneal edema"},{"scope":"EXACT","text":"Epithelial corneal swelling"}]} +{"alt_ids":[],"definition":"bnormal blood vessels in the retina that form as a response to vascular occlusion, serving as bypass channels to redirect blood flow around obstructed or damaged retinal vessels. Retinal shunt vessels are often associated with conditions like retinal vein occlusion or diabetic retinopathy and may appear as tortuous or dilated vessels on fundoscopic examination.","id":"HP:6001183","name":"Retinal shunt vessels","obsolete":false,"parents":["HP:0008046"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Retinal collateral vessels"}]} +{"alt_ids":[],"definition":"A condition characterized by the formation of filaments composed of degenerated epithelial cells and mucus attached to the corneal surface. It is associated with symptoms such as pain, foreign body sensation, photophobia, and tearing. Filamentary keratitis is often linked to underlying conditions such as dry eye disease, post-surgical ocular surface disorders, or systemic diseases like Sjoegren syndrome.","id":"HP:6001184","name":"Filamentary keratitis","obsolete":false,"parents":["HP:0011495"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of D-glucosylsphingosine in the blood circulation above the upper limit of normal.","id":"HP:6001185","name":"Elevated circulating glucosylsphingosine concentration","obsolete":false,"parents":["HP:0011013"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A condition characterized by bleeding at or near the optic disc, visible as a flame-shaped or splinter hemorrhage on fundoscopic examination.","id":"HP:6001186","name":"Optic disc hemorrhage","obsolete":false,"parents":["HP:0012795"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Optic disc bleeding"}]} +{"alt_ids":[],"definition":"The concentration of progranulin in the blood circulation is below the lower limit of normal.","id":"HP:6001187","name":"Decreased circulating progranulin concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased progranulin concentration"},{"scope":"EXACT","text":"Decreased progranulin level"},{"scope":"EXACT","text":"Decreased progranulin level in blood"},{"scope":"EXACT","text":"Reduced progranulin concentration"},{"scope":"EXACT","text":"Reduced progranulin level"},{"scope":"EXACT","text":"Reduced progranulin level in blood"}]} +{"alt_ids":[],"definition":"Enlargement of one or more lymph nodes located in front of the ear.","id":"HP:6001188","name":"Preauricular lymphadenopathy","obsolete":false,"parents":["HP:0002716"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Growth of nail tissue outside the ungual plate, generally in the finger.","id":"HP:6001189","name":"Onychoheterotopia","obsolete":false,"parents":["HP:0001597"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ectopic fingernail"}]} +{"alt_ids":[],"definition":"A deviation from the normal level of major histocompatibility complex (MHC) molecules expressed at the cell surface. The cell-mediated adaptive immune response is regulated by the MHC, which is called human leukocyte antigen (HLA) in humans. HLA molecules are cell surface glycoproteins whose primary function is to present endogenous and exogenous antigens to T lymphocytes for recognition and response. The HLA molecules that present antigen to T lymphocytes are divided into two main classes: HLA class I and HLA class II molecules.","id":"HP:6001190","name":"Abnormal MHC surface expression","obsolete":false,"parents":["HP:0010978"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Flexion MRI (imaging with neutral and flexed about 30-40 degrees neck position) reveals an anterior shift of the cervical dural sac from the lamina in the region of C4 to C7.","id":"HP:6001191","name":"Forward displacement of posterior cervical dura mater on neck flexion","obsolete":false,"parents":["HP:0410263"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A localized area of corneal thinning typically occurring adjacent to an elevated lesion, such as a conjunctival scar, pterygium, or poorly fitting contact lens. Corneal dellen result from tear film instability and localized dehydration. Without timely treatment, they may progress to epithelial defects or corneal ulceration.","id":"HP:6001192","name":"Corneal dellen","obsolete":false,"parents":["HP:0100689"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Corneal stromal dellen"},{"scope":"EXACT","text":"Localized corneal thinning"}]} +{"alt_ids":[],"definition":"A condition characterized by dryness of the conjunctiva, often associated with keratinization of the conjunctival epithelium. Conjunctival xerosis is commonly linked to vitamin A deficiency, severe dry eye disease, or systemic conditions such as Sjogren syndrome. Clinical features may include a dull, rough conjunctival surface and reduced mucosal secretions.","id":"HP:6001193","name":"Conjunctival xerosis","obsolete":false,"parents":["HP:0000502"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Conjunctival dryness"},{"scope":"EXACT","text":"Dry conjunctiva"}]} +{"alt_ids":[],"definition":"Difficulty rotating the lower part of the arm away from the body (tested with the elbow flexed and the elbow held next to the side of the body) secondary to pain, weakness, or mechanical block.","id":"HP:6001194","name":"Limited shoulder external rotation","obsolete":false,"parents":["HP:0006467"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Shoulder external rotation limited"}]} +{"alt_ids":[],"definition":"A history of exposure to repeated hand trauma as observed with occupations in which use of hands is frequent such as construction, food preparation and serving related occupations, and transportation and material moving occupations.","id":"HP:6001195","name":"Occupational exposure to frequent hand trauma","obsolete":false,"parents":["HP:0035010"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An inability to fully extend the metacarpophalangeal (MCP) joint of a finger (extension of an MCP joint straightens the finger).","id":"HP:6001196","name":"Inability to fully extend finger at metacarpophalangeal joint","obsolete":false,"parents":["HP:0006135"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inability to fully extend finger at MCP joint"},{"scope":"EXACT","text":"Inability to fully extend finger from base"}]} +{"alt_ids":[],"definition":"Inflammation of the wrist joint.","id":"HP:6001197","name":"Wrist arthritis","obsolete":false,"parents":["HP:0001369"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Widening of the space between the scaphoid and lunate on x-ray; scapholunate dissociation.","id":"HP:6001198","name":"Scapholunate interval widening","obsolete":false,"parents":["HP:0001191"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Terry-Thomas sign"}]} +{"alt_ids":[],"definition":"Applies to an abnormality whose distribution is limited to or predominantly affects the fleshy mass on the volar (palmar) aspect of the digit, distal to the distal interphalangeal (DIP) joint (known as the pulp of the finger).","id":"HP:6001199","name":"FInger pulp localization","obsolete":false,"parents":["HP:0012838"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Symptoms localized to pulp of the finger"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ulnar side of the wrist.","id":"HP:6001200","name":"Ulnar wrist pain","obsolete":false,"parents":["HP:0030836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Radiographic widening of the space between the lunate and triquetrum bones.","id":"HP:6001201","name":"Lunotriquetral interval widening","obsolete":false,"parents":["HP:0001191"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anteroposterior wrist radiograph showing ulnar translocation of the carpus from the distal radius with widening of the radial styloid-scaphoid space.","id":"HP:6001202","name":"Ulnar translocation of the carpus","obsolete":false,"parents":["HP:0001191"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A popping or snapping sensation (noise or feeling) at the time of an injury.","id":"HP:6001203","name":"Snapping sensation at time of injury","obsolete":false,"parents":["HP:0025280"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pagetoid spread connotes the spread of single neoplastic cells, and small nests of them above the basal layer in a variety of melanocytic and nonmelanocytic neoplasms similar to the pattern seen in Paget's and in extramammary Paget disease.","id":"HP:6001204","name":"Pagetoid spread","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Central scarring of skin lesions.","id":"HP:6001205","name":"Central scarring","obsolete":false,"parents":["HP:0012836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A breakage (partial or complete tear) of the scapholunate ligament. The most common cause is physical trauma to the wrist such as a fall onto an outstretched hand. Tear of the scapholunate ligament may lead to carpal instability.","id":"HP:6001206","name":"Scapholunate ligament tear","obsolete":false,"parents":["HP:0001191"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Scapholunate ligament injury"},{"scope":"RELATED","text":"Scapholunate ligament rupture"}]} +{"alt_ids":[],"definition":"A breakage (partial or complete tear) of the lunotriquetral ligament. The most common cause is physical trauma to the wrist such as a fall onto an outstretched hand. Rupture or tear of the the lunotriquetral ligament may lead to carpal instability.","id":"HP:6001207","name":"Lunotriquetral ligament tear","obsolete":false,"parents":["HP:0001191"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Arthritis at the pisotriquetral joint. Radiographic evidence of arthritis at the pisotriquetral joint includes joint space narrowing, osteophytes, subchondral cysts, and/or subchondral sclerosis.","id":"HP:6001208","name":"Pisotriquetral arthritis","obsolete":false,"parents":["HP:0001191"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of carpal instability characterized by volar tilt of the lunate bone.","id":"HP:6001209","name":"Volar intercalated segment instability","obsolete":false,"parents":["HP:0001191"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any substantial discrepancy between the measurement of oxygen saturation with finger probe pulse oximetry as compared to an arterial blood gas, which is considered the gold standard.","id":"HP:6001210","name":"Inaccurate finger pulse oximetry oxygen saturation measurement","obsolete":false,"parents":["HP:0025323"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inaccurately reduced oxygen saturation as measured by finger or toe pulse oximetry compared to oxygen saturation as measured by venous or arterial blood gas analysis.","id":"HP:6001211","name":"Finger pulse oximetry lower than arterial blood gas analysis measurement of oxygen saturation","obsolete":false,"parents":["HP:6001210"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inaccurately elevated oxygen saturation as measured by finger or toe pulse oximetry compared to oxygen saturation as measured by venous or arterial blood gas analysis.","id":"HP:6001212","name":"Finger pulse oximetry higher than arterial blood gas analysis measurement of oxygen saturation","obsolete":false,"parents":["HP:6001210"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Thumb sucking is a behavior that ceases spontaneously in most children between 2 and 4 years of age. If thumb sucking continues, negative consequences can occur, such as a deformity of the nail or paronychia. This term refers to a history of habitual thumb sucking past the age of 4 years of life.","id":"HP:6001213","name":"History of thumb sucking past the age of four years","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Skin inflammatory reaction triggered by a wide variety of stimuli, including infections, foreign bodies, malignancy, metabolites, and chemicals. From a pathogenic point of view, they are divided into non-infectious and infectious granulomas. From a clinical point of view, it is useful to divide cutaneous granulomatosis into localized and more disseminated forms, although this distinction can be sometimes artificial.","id":"HP:6001214","name":"Cutaneous granulomatosis","obsolete":false,"parents":["HP:0002955"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Obstruction of urine flow through one or both ureters caused by issues such as injury, infection, tumours and surgery.","id":"HP:6001215","name":"Ureteric stricture","obsolete":false,"parents":["HP:0025633"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A retinal vascular abnormality characterized by indentation or compression of a retinal vein at an arteriovenous crossing, leading to changes in venous caliber. AV crossing signs are commonly associated with hypertensive retinopathy and may contribute to retinal vein occlusion. They are indicative of vascular remodeling due to chronic hypertension or other systemic vascular diseases.","id":"HP:6001216","name":"Arteriovenous crossing sign","obsolete":false,"parents":["HP:0008046"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"AV crossing changes"},{"scope":"EXACT","text":"AV nicking"},{"scope":"EXACT","text":"Arteriovenous nicking"},{"scope":"EXACT","text":"Gunn sign"}]} +{"alt_ids":[],"definition":"Curvilinear or circumferential breaks in Descemet membrane, typically associated with congenital glaucoma. Haab striae result from elevated intraocular pressure during corneal development, leading to the formation of horizontal or arcuate lines that may be visible on slit-lamp examination. They can contribute to corneal astigmatism and visual impairment.","id":"HP:6001217","name":"Haab striae","obsolete":false,"parents":["HP:0011490"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Haab's striae"}]} +{"alt_ids":[],"definition":"Growth of Legionella bacteria in a sputum culture.","id":"HP:6001218","name":"Positive Legionella sputum culture","obsolete":false,"parents":["HP:0430107"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Streptococcus pneumoniae growth in sputum culture.","id":"HP:6001219","name":"Positive Streptococcus pneumoniae sputum culture","obsolete":false,"parents":["HP:0430107"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Demonstration of Blastomyces dermatitidis by microscopic examination of a stained sputum specimen.","id":"HP:6001220","name":"Positive Blastomyces dermatitidis sputum fungal stain","obsolete":false,"parents":["HP:0430107"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Blastomyces dermatitidis on sputum fungal stain"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the posterior (back) part of the shoulder.","id":"HP:6001221","name":"Posterior shoulder pain","obsolete":false,"parents":["HP:0030834"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the superior or proximal aspect of the shoulder over the acromion, distal clavicle, and/or acromioclavicular (AC) joint.","id":"HP:6001222","name":"Superior shoulder pain","obsolete":false,"parents":["HP:0030834"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the localized aspect (on the side) of the shoulder.","id":"HP:6001223","name":"Lateral shoulder pain","obsolete":false,"parents":["HP:0030834"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Subjective or objective feeling of clunking/clicking in the shoulder with movement, shoulder 'giving way', or sensation of shoulder dislocating.","id":"HP:6001224","name":"Shoulder instability","obsolete":false,"parents":["HP:0033129"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A injury with a team (rip, split, or disruption) to the labrum, which is the ring of cartilage that surrounds the socket of the shoulder joint (the glenoid).","id":"HP:6001225","name":"Shoulder labrum tear","obsolete":false,"parents":["HP:0003043"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Glenoid labral tear"},{"scope":"EXACT","text":"Labral tear in the shoulder"}]} +{"alt_ids":[],"definition":"Sensation of a pain with or without clicking or clunking sensation with the following test. Flex patients elbow to 90 degrees and abduct the arm 120 degrees while maximally externally rotating the arm, then examiner lowers the arm to 60 degrees of abduction. A positive test occurs with pain and/or a painful click along the posterior joint line between 120 degrees and 90 degrees of abduction.","id":"HP:6001226","name":"Positive modified dynamic labral shear test","obsolete":false,"parents":["HP:0033129"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pain in shoulder reproduced when examiner applies downward pressure on the arm while patient resists pressure in the following position: elbow extended, shoulder forward flexed to 90 degrees and 10-15 degrees adducted with palm facing down. This can be compared to the same position but with the palm facing up which should be less painful.","id":"HP:6001227","name":"Positive O'Brien active compression test","obsolete":false,"parents":["HP:0025823"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The individual being investigated displays noticeable apprehension (unease) during a test for shoulder instability in which the individual is laying supine with shoulder abducted to 90 degrees, elbow flexed to 90 degrees, and an external rotation pressure with combined downward pressure is applied on the upper arm.","id":"HP:6001228","name":"Positive shoulder apprehension test","obsolete":false,"parents":["HP:0025823"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A condition characterized by the presence of foam or bubbles within the tear film, often associated with meibomian gland dysfunction or ocular surface diseases.","id":"HP:6001229","name":"Foamy tear film","obsolete":false,"parents":["HP:0000632"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Frothy tear film"},{"scope":"EXACT","text":"Tear bubbles"},{"scope":"EXACT","text":"Tear foam"}]} +{"alt_ids":[],"definition":"The formation of large, bluish, nodular lesions in the superficial corneal stroma, often associated with chronic keratitis or aging. These nodules may lead to visual impairment.","id":"HP:6001230","name":"Salzmann corneal nodules","obsolete":false,"parents":["HP:0007705"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Salzmann nodular corneal degeneration"},{"scope":"EXACT","text":"Salzmann nodular corneal dystrophy"},{"scope":"EXACT","text":"Salzmann's nodules"}]} +{"alt_ids":[],"definition":"The abnormal growth of blood vessels into the corneal stroma, often associated with ocular herpes, chronic inflammation, infection, or hypoxia. This condition can lead to corneal scarring and vision impairment.","id":"HP:6001231","name":"Corneal stromal vascularisation","obsolete":false,"parents":["HP:0011496"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Corneal stromal neovascularization"},{"scope":"EXACT","text":"Stromal vascularization of the cornea"}]} +{"alt_ids":[],"definition":"Linear or arcuate deposition of iron within the corneal epithelium or stroma, typically associated with conditions such as keratoconus, corneal degeneration, or postsurgical corneal changes.","id":"HP:6001232","name":"Corneal iron line","obsolete":false,"parents":["HP:0011495"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A condition characterized by redundant, loose conjunctival tissue, typically located between the globe and the lower eyelid, which may cause ocular discomfort, tear film instability, or epiphora.","id":"HP:6001233","name":"Conjunctivochalasis","obsolete":false,"parents":["HP:0000502"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased pigmentation of the conjunctiva, characterized by brown or black discoloration due to melanocytic proliferation or pigment deposition. It may be associated with benign conditions such as primary acquired melanosis or malignant transformation into conjunctival melanoma.","id":"HP:6001234","name":"Conjunctival hyperpigmentation","obsolete":false,"parents":["HP:0000502"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Conjunctival melanosis"},{"scope":"EXACT","text":"Hyperpigmentation of the conjunctiva"},{"scope":"EXACT","text":"Pigmented conjunctiva"}]} +{"alt_ids":[],"definition":"Antibodies against antigens presented by the cell wall of the yeast Saccharomyces cerevisiae.","id":"HP:6001235","name":"Anti-Saccharomyces cerevisiae antibodies","obsolete":false,"parents":["HP:0430076"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"ASCA"}]} +{"alt_ids":[],"definition":"The fractional exhaled nitric oxide (FeNO) is elevated above the upper limit of normal. FeNO is an endogenous gaseous molecule which can be measured in the human breath test because of airway inflammation. It has been studied extensively as a marker of inflammation and has been incorporated into an algorithm for asthma management.","id":"HP:6001236","name":"Elevated fraction exhaled nitric oxide","obsolete":false,"parents":["HP:0002795"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fraction exhaled nitric oxide elevated"}]} +{"alt_ids":[],"definition":"A condition characterized by increased blood flow and congestion of the iris vasculature, leading to a reddish discoloration of the iris. Iris hyperemia is commonly associated with anterior uveitis, angle-closure glaucoma, or ocular inflammation.","id":"HP:6001237","name":"Iris hyperemia","obsolete":false,"parents":["HP:0007905"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congested iris vessels"},{"scope":"EXACT","text":"Increased iris vascularity"},{"scope":"EXACT","text":"Iris hyperaemia"}]} +{"alt_ids":[],"definition":"The number of reticulated platelets per volume of blood in the peripheral circulation is above the upper limit of normal.","id":"HP:6001238","name":"Elevated circulating reticulated platelet count","obsolete":false,"parents":["HP:0011873"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The number of reticulated platelets per volume of blood in the peripheral circulation is below the lower limit of normal.","id":"HP:6001239","name":"Reduced circulating reticulated platelet count","obsolete":false,"parents":["HP:0011873"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Decreased immature platelet fraction"}]} +{"alt_ids":[],"definition":"The number of reticulated platelets per volume of blood in the peripheral circulation is outside the limits of normal.","id":"HP:6001240","name":"Abnormal circulating reticulated platelet count","obsolete":false,"parents":["HP:0011873"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A sign that can be observed in diseases such as Pyogenic or suppurative flexor tenosynovitis in which the affected finger is held in a flexed position. Often, there is pain on any attempt at passive finger extension. This finding is to be distinguished from a contracture of a finger joint in which the flexed positions is fixed.","id":"HP:6001241","name":"Flexed posturing of finger","obsolete":false,"parents":["HP:0034430"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Elevation of the the alpha-defensin concentration in synovial aspirate is above the upper limit of normal. The alpha-defensin test is a qualitative immunoassay optimized and validated for synovial fluid. The alpha-defensin protein is an antimicrobial peptide that is naturally released by neutrophils responding to a pathogen in the synovial fluid.","id":"HP:6001242","name":"Positive synovial fluid alpha-defensin","obsolete":false,"parents":["HP:6000581"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Salter-Harris fractures (physeal fractures) refer to fractures through a growth plate (physis) and are, therefore, specifically applied to bone fractures in children.","id":"HP:6001243","name":"Physeal fracture","obsolete":false,"parents":["HP:4000042"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of physeal (Salter-Harris) fracture in which the fracture line extends through the physis or within the growth plate. Type I fractures are due to the longitudinal force applied through the physis, which splits the epiphysis from the metaphysis.","id":"HP:6001244","name":"Salter I fracture","obsolete":false,"parents":["HP:6001243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Slipped physeal fracture"},{"scope":"EXACT","text":"Type I Salter-Harris fracture"}]} +{"alt_ids":[],"definition":"A type of physeal (Salter-Harris) fracture in which the fracture extends through both the physis and metaphysis. These are most common and occur away from the joint space. When the small corner of the metaphysis is visible, this is known as a corner sign or Thurston-Holland fragment.","id":"HP:6001245","name":"Salter II fracture","obsolete":false,"parents":["HP:6001243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Type II Salter-Harris fracture"}]} +{"alt_ids":[],"definition":"A type of physeal (Salter-Harris) fracture in which the fracture is intra-articular and extends from the physis into the epiphysis.","id":"HP:6001246","name":"Salter III fracture","obsolete":false,"parents":["HP:6001243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Type III Salter-Harris fracture"}]} +{"alt_ids":[],"definition":"A type of physeal (Salter-Harris) fracture in which the fracture is intra-articular and passes through the epiphysis, physis, and metaphysis.","id":"HP:6001247","name":"Salter IV fracture","obsolete":false,"parents":["HP:6001243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Type IV Salter-Harris fracture"}]} +{"alt_ids":[],"definition":"A type of physeal (Salter-Harris) fracture that is due to a crush or compression injury of the growth plate. In type V, the force is transmitted through the epiphysis and physis, potentially disrupting the germinal matrix, hypertrophic region, and vascular supply.","id":"HP:6001248","name":"Salter V fracture","obsolete":false,"parents":["HP:6001243"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Type V Salter-Harris fracture"}]} +{"alt_ids":[],"definition":"A cut or injury to the soft tissue under the fingernail or toenail.","id":"HP:6001249","name":"Nail bed laceration","obsolete":false,"parents":["HP:0001597"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Recent or remote history of distal radius fracture of the symptomatic arm.","id":"HP:6001250","name":"History of distal radius fracture","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Recent or remote history of a tear in the triangular fibrocartilage complex (TFCC). The TFCC is a load-bearing structure between the lunate, triquetrum, and ulnar head. The function of the TFCC is to act as a stabilizer for the ulnar aspect of the wrist. The TFCC is at risk for either acute or chronic degenerative injury.","id":"HP:6001251","name":"History of triangular fibrocartilage complex tear","obsolete":false,"parents":["HP:0032443"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"History of TFCC tear"}]} +{"alt_ids":[],"definition":"The creases (wrinkles) on the soles of the feet are less pronounced than normal, or absent.","id":"HP:6001252","name":"Reduced plantar creases","obsolete":false,"parents":["HP:0100872"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Effaced plantar creases"}]} +{"alt_ids":[],"definition":"Damage to the skin and underlying tissues caused by an agents such as heat, chemicals, electricity, radiation, or friction, resulting in pain, redness, swelling, and sometimes blisters or charring.","id":"HP:6001253","name":"Skin burn","obsolete":false,"parents":["HP:0011121"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of carboxysterols in lymphoblastoid cells cultured in cholesterol-depleted medium is below the lower limit of normal.","id":"HP:6001254","name":"Elevanted carboxysterol concentration in cultured lymphoblasts","obsolete":false,"parents":["HP:0032243"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An anomaly that can be ascertained by iron-specific magnetic resonance imaging (MRI) sequences such as gradient-echo (GRE) and susceptibility-weighted imaging (SWI). Superficial siderosis of the central nervous system is a chronic condition due to persistent or repeated long-term bleeding into the subarachnoid space, leading to subpial hemosiderin deposition. Hemosiderin deposition on MRI is seen as a T2 hypointensity and preferentially outlines the cerebellum and brainstem surface.","id":"HP:6001255","name":"Superficial CNS hemosiderin deposition","obsolete":false,"parents":["HP:0010651"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Superficial siderosis"}]} +{"alt_ids":[],"definition":"A type of superficial CNS hemosiderin deposition that most commonly occurs due to iron deposits in the superficial cortical layers following bleeding from leptomeningeal vessels, most often from cerebral amyloid angiopathy in patients aged 55 or older.","id":"HP:6001256","name":"Cortical superficial CNS hemosiderin deposition","obsolete":false,"parents":["HP:6001255"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cortical superficial siderosis"}]} +{"alt_ids":[],"definition":"A type of superficial CNS hemosiderin deposition that involves the cerebellum and brainstem, most commonly the superior vermis, quadrigeminal plate, and basal cerebral surfaces. Cerebellar atrophy, particularly the superior vermis and anterior cerebellar hemispheres, can also be seen on a computed tomography scan of the head. The MRI of the spinal cord may reveal myelomalacia, syringomyelia, owl-eyes, or snake-eyes signs. The most common etiology for classic or primary infratentorial superficial siderosis is spinal dural defects, often dural tears.","id":"HP:6001257","name":"Infratentorial superficial CNS hemosiderin deposition","obsolete":false,"parents":["HP:6001255"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Infratentorial superfiicial siderosis"}]} +{"alt_ids":[],"definition":"Pulmonary Hyperplasia is an absolute increase in the number of alveoli, which are mildly enlarged. Pulmonary hyperplasia has been also referred to as polyalveolar lobe and type 3 cystic adenomatoid malformation.","id":"HP:6001258","name":"Pulmonary hyperplasia","obsolete":false,"parents":["HP:0002088"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Demonstration of protozoan parasites in a cerebrospinal fluid (CSF) specimen by microscopy.","id":"HP:6001259","name":"Positive protozoan parasite CSF wet mount test","obsolete":false,"parents":["HP:0430123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A gallbladder (GB) polyp is a growth that projects from the lining of the inside wall of the gallbladder into the lumen of the GB. GB polyps are a common incidental sonographic finding, the vast majority of which are benign.","id":"HP:6001260","name":"Gallbladder polyp","obsolete":false,"parents":["HP:0012437"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Multiple polyps arising from the gallbladder mucosal wall.","id":"HP:6001261","name":"Gallbladder polyposis","obsolete":false,"parents":["HP:0012437"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Discontinuity of the biceps tendon as observed by ultrasound or magnetic resonance (MR) imaging.","id":"HP:6001262","name":"Biceps tendon rupture","obsolete":false,"parents":["HP:0100550"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Biceps tendon tear"}]} +{"alt_ids":[],"definition":"Medial epicondyle apophysitis (MEA), also known as little league elbow, is an overuse injury prevalent among adolescent athletes whose sport involves repetitive overhand throwing, racket use, or other overhead arm motions. The medial epicondyle is a bony protrusion on the medial elbow with its own ossification center, separate from the main distal humeral physis, known as an apophysis. Medial epicondyle apophysitis occurs due to excessive and repetitive valgus stress placed on the apophysis before its closure. Over time, the repetitive strain results in a traction-type injury and may cause pathologic widening and inflammation of the apophysis or even an avulsion fracture.","id":"HP:6001263","name":"Medial epicondyle apophysitis","obsolete":false,"parents":["HP:6001435"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Little league elbow"}]} +{"alt_ids":[],"definition":"A partial (subluxation) loss of alignment at the base of the thumb, where the first metacarpal bone meets the trapezium bone of the wrist. Thumb radiographs showing carpometacarpal (CMC) joint space widening and/or incongruity of the joint space between thumb metacarpal bone and the trapezium bone.","id":"HP:6001264","name":"Thumb carpometacarpal subluxation","obsolete":false,"parents":["HP:0001172"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thumb CMC subluxation"},{"scope":"EXACT","text":"Thumb carpometacarpal dislocation"}]} +{"alt_ids":[],"definition":"A descriptor indicating that a condition, lesion, or abnormality is confined to the lower eyelid. This localization may be relevant for various ocular conditions, including infections, structural abnormalities, or dermatological diseases affecting the lower eyelid region.","id":"HP:6001265","name":"Localized to lower eyelid","obsolete":false,"parents":["HP:6001266"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inferior palpebral location"},{"scope":"EXACT","text":"Lower lid location"}]} +{"alt_ids":[],"definition":"Applies to an abnormality that is situated in an eyelid.","id":"HP:6001266","name":"Localized to eyelid","obsolete":false,"parents":["HP:0012838"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A visual phenomenon characterized by the perception of bright rings or halos surrounding light sources. Halo vision is often associated with optical irregularities such as corneal edema, cataracts, or intraocular lens complications. It may also occur in conditions affecting the tear film or due to the presence of glare from light scattering within the ocular media.","id":"HP:6001267","name":"Halo vision","obsolete":false,"parents":["HP:0000505"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of blood in the seminal fluid.","id":"HP:6001268","name":"Hematospermia","obsolete":false,"parents":["HP:0012874"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hemospermia"}]} +{"alt_ids":[],"definition":"Choledocholithiasis is the presence of stones within the common bile duct.","id":"HP:6001269","name":"Choledocholithiasis","obsolete":false,"parents":["HP:0035013"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Paresthesias on the lateral aspect of the shoulder and upper arm. Weakness in shoulder abduction (deltoid) and shoulder external rotation (teres minor).","id":"HP:6001270","name":"Axillary nerve distribution","obsolete":false,"parents":["HP:0025849"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"X-ray of the pelvis (AP, inlet, and outlet views) showing fracture of the pelvic ring, including iliac wing (ilium), superior or inferior pubic ramus, or ischium, and/or displacement of the pubic symphysis or sacroiliac joints.","id":"HP:6001271","name":"Pelvic ring fracture","obsolete":false,"parents":["HP:0041161"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An injury consisting of a laterally displaced scapula with separation of the ipsilateral acromioclavicular joint, disruption of the ipsilateral subclavian vessels and brachial plexus, and an intact overlying skin.","id":"HP:6001272","name":"Scapulothoracic dissociation","obsolete":false,"parents":["HP:0000782"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Refers to pain that is worse when the individual bears weight with the affected body part.","id":"HP:6001273","name":"Pain exacerbated by weight bearing","obsolete":false,"parents":["HP:0025285"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pain on weight bearing"}]} +{"alt_ids":[],"definition":"The distal phalanx of the adducted thumb extends beyond the ulnar border of the palm (The thumb protrudes from the clenched fist).","id":"HP:6001274","name":"Thumb sign","obsolete":false,"parents":["HP:0001167"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Steinberg sign"}]} +{"alt_ids":[],"definition":"Partial or complete breakage (rupture) of the tibialis anterior tendon (TAT). The TAT is the principal dorsiflexor of the ankle joint and secondary invertor of the foot. It has important roles in the different stages of gait; in the swing phase, it concentrically dorsiflex the ankle for foot clearance and during plantarflexion of the ankle in the stance phase, it eccentrically contract to stabilize the ankle and prevent damage to the foot and ankle. Clinically, presentations in acute lacerations or direct trauma cases are straight forward, in chronic and atraumatic cases usually the symptoms at the time of TAT rupture are more subtle. Other manifestations include mild pain, localized mass, palpable gap, loss of strength, instability during gait, gait disturbances with forefoot dropping and stumbling and high stepping gait.","id":"HP:6001275","name":"Tibialis anterior tendon rupture","obsolete":false,"parents":["HP:0034673"],"replaced_by":[],"synonyms":[]} +{"alt_ids":["HP:6001288"],"definition":"Activity of the enzyme von Willebrand factor-cleaving protease (ADAMTS13) in the blood circulation below the lower limit of normal.","id":"HP:6001276","name":"Decreased circulating ADAMTS13 activity","obsolete":false,"parents":["HP:0012379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal result of the methacholine challenge test, which is a bronchoprovocation technique used to evaluate airway hyperresponsiveness, particularly in patients with suspected asthma.","id":"HP:6001277","name":"Abnormal methacholine challenge test","obsolete":false,"parents":["HP:0030878"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Detection of the presence of glutamate dehydrogenase produced by Clostridium difficile in a stool sample.","id":"HP:6001278","name":"Positive stool glutamate dehydrogenase test","obsolete":false,"parents":["HP:0034866"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Detection of C. difficile glutamate dehydrogenase"},{"scope":"EXACT","text":"Positive C. difficile glutamate dehydrogenase test"}]} +{"alt_ids":[],"definition":"A retrocorneal membrane is an abnormal, fibrous or cellular tissue layer that forms on the posterior surface of the cornea, typically on or adjacent to the Descemet membrane. It may result from trauma, surgery (e.g., penetrating keratoplasty), inflammation, or endothelial cell dysfunction, and can lead to visual impairment depending on its density and extent.","id":"HP:6001279","name":"Retrocorneal membrane","obsolete":false,"parents":["HP:0000593"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Membrane behind the cornea"},{"scope":"EXACT","text":"Retrocorneal fibrosis"},{"scope":"EXACT","text":"Retrocorneal fibrous membrane"}]} +{"alt_ids":[],"definition":"Adrenal hemorrhage is bleeding within the capsule of the adrenal gland.","id":"HP:6001280","name":"Adrenal hemorrhage","obsolete":false,"parents":["HP:0011732"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal increase in the diameter of the optic nerve sheath, typically due to elevated intracranial pressure or local pathology affecting cerebrospinal fluid (CSF) dynamics. It can be detected via imaging modalities such as ultrasound or MRI and may be associated with papilledema, idiopathic intracranial hypertension, or optic nerve tumors.","id":"HP:6001281","name":"Optic nerve sheath dilatation","obsolete":false,"parents":["HP:0000587"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dilation of the optic nerve sheath"},{"scope":"EXACT","text":"Enlarged optic nerve sheath"},{"scope":"EXACT","text":"Optic nerve sheath expansion"}]} +{"alt_ids":[],"definition":"A blood clot (thrombus) localized in the right ventricle.","id":"HP:6001282","name":"Right ventricular thrombus","obsolete":false,"parents":["HP:0001707"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased susceptibility to Candida infections as manifested by a severe or invasive infection with Candida. Severe manifestations include invasive candidiasis with hematogenous spread (candidaemia), hepatosplenic candidiasis, renal candidiasis, Candida endophthalmitis, and Candida endocarditis.","id":"HP:6001283","name":"Severe Candida infection","obsolete":false,"parents":["HP:0020101","HP:5210102"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disseminated candidiasis"},{"scope":"EXACT","text":"Hepatosplenic candidiasis"},{"scope":"EXACT","text":"Invasive candidiasis"}]} +{"alt_ids":[],"definition":"A functional deficit of the phrenic nerve. Phrenic neuropathy (PhN) is a debilitating condition characterized by impairment of the diaphragm muscle, the primary inspiratory muscle. Diaphragm muscle ultrasound is a noninvasive tool that appears to offer both high sensitivity and specificity for diagnosis. Alternatively, electrodiagnostic studies can assess phrenic nerve health. PhN is commonly diagnosed via diaphragm muscle US or fluoroscopy (sniff test) with paradoxical or significantly decreased diaphragm muscle movement.","id":"HP:6001284","name":"Phrenic neuropathy","obsolete":false,"parents":["HP:0032120"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Phrenic nerve neuropathy"}]} +{"alt_ids":[],"definition":"New glomerular basement membrane matrix formation under the endothelial cell.","id":"HP:6001285","name":"Glomerular basement membrane subendothelial remodeling","obsolete":false,"parents":["HP:0033282"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Enlargement of the glomerular endothelium (the innermost layer of the glomerular filtration barrier) causing capillary lumen narrowing and loss of fenetrations.","id":"HP:6001286","name":"Glomerular endothelium swelling","obsolete":false,"parents":["HP:0000095"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Glomerular endothelial swelling"}]} +{"alt_ids":[],"definition":"Widening of the lumen of the lumen of the collecting ducts in the renal medulla.","id":"HP:6001287","name":"Medullary collecting duct ectasia","obsolete":false,"parents":["HP:0004742"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":null,"id":"HP:6001288","name":"obsolete Reduced circulating ADAMTS13 activity","obsolete":true,"parents":[],"replaced_by":["HP:6001276"],"synonyms":[]} +{"alt_ids":[],"definition":"A raised, opaque, and fibrous lesion on the cornea resembling a dermal keloid, typically composed of disorganized collagen and fibrovascular tissue. Corneal keloids can impair vision and are often secondary to trauma, surgery, or underlying congenital disorders.","id":"HP:6001289","name":"Corneal keloid","obsolete":false,"parents":["HP:0011495"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An ultrastructural abnormality of the kidney glomeruli characterized by an excessive number or abnormal aggregation of mitochondria in podocytes.","id":"HP:6001290","name":"Podocytic mitochondrial proliferation","obsolete":false,"parents":["HP:0031265"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal mitochondrial proliferation in podocytes"}]} +{"alt_ids":[],"definition":"The ratio of 24,25(OH)2D to 25(OH)D (also known as vitamin D metabolite ratio or VMR) is above the upper limit of normal.","id":"HP:6001291","name":"Elevated vitamin D metabolite ratio","obsolete":false,"parents":["HP:0100511"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applied to a sign or symptom that is worsened by treatment or supplementation with vitamin D.","id":"HP:6001292","name":"Aggravated by vitamin D supplementation","obsolete":false,"parents":["HP:4000176"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applied to a sign or symptom that becomes worse with exposure to sunlight.","id":"HP:6001293","name":"Aggravated by sun exposure","obsolete":false,"parents":["HP:0025285"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Accumulation of uromodulin within renal tubular cells or lumina.","id":"HP:6001294","name":"Tubular accumulation of uromodulin","obsolete":false,"parents":["HP:0032950"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Elevated level of reducing substances in the feces. If carbohydrate malabsorption is suspected, a reducing substance should be investigated in the stool using the Benedict or Fehling test. The presence of reducing substances may indicate an abnormality in carbohydrate (e.g., sucrose, lactase) metabolism. The unabsorbed sugars in stool are measured as reducing substances.","id":"HP:6001295","name":"Elevated stool reducing substances","obsolete":false,"parents":["HP:0031685"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated fecal reducing substances"},{"scope":"EXACT","text":"Increased reducing substances in stool"}]} +{"alt_ids":[],"definition":"Osteochondral lesion of the talus (OLT) is an injury involving the articular cartilage and subchondral bone, defined as any damage involving both articular cartilage and subchondral bone of the talar dome. OLT can cause ankle joint pain and can sometimes lead to instability and manifest as an area of abnormal, damaged cartilage and bone on the top of the talus bone (the lower bone of the ankle joint).","id":"HP:6001296","name":"Osteochondral lesion of talus","obsolete":false,"parents":["HP:0008365"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A mallet toe involves the distal interphalangeal (DIP) joint [such that] the distal phalanx is flexed on the middle phalanx.","id":"HP:6001297","name":"Mallet toe","obsolete":false,"parents":["HP:0034398"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The bunionette, or tailor's bunion, is a lateral prominence of the fifth metatarsal head. Most commonly, bunionettes are the result of a widened 4-5 intermetatarsal angle with associated varus of the metatarsophalangeal joint.","id":"HP:6001298","name":"Bunionette deformity","obsolete":false,"parents":["HP:0008089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bunionette toe deformity"},{"scope":"EXACT","text":"Tailor's bunion"}]} +{"alt_ids":[],"definition":"The concentration of beta chorionic gonadotropin in the cerebrospinal fluid (CSF) is above the upper limit of normal.","id":"HP:6001299","name":"Elevated CSF beta chorionic gonadotropin concentration","obsolete":false,"parents":["HP:0025456"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Separation of the retinal pigment epithelium (RPE) from the underlying Bruch membrane.","id":"HP:6001300","name":"Pigment epithelium detachment","obsolete":false,"parents":["HP:0007703"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A pathological condition characterized by the proliferation of glial cells in the retina, often occurring as a reactive response to injury, inflammation, or degenerative changes, and typically resulting in structural and functional alterations in the retina.","id":"HP:6001301","name":"Retinal gliosis","obsolete":false,"parents":["HP:0000546"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Absence of the crystalline lens in the eye, which may be congenital or acquired (e.g., following surgical removal of the lens for cataracts or trauma).","id":"HP:6001302","name":"Aphakia","obsolete":false,"parents":["HP:0000517"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort that is triggered upon extension (straightening) of the thumb.","id":"HP:6001303","name":"Pain on thumb extension","obsolete":false,"parents":["HP:0046505"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A partial or complete breakage of the lunate bone.","id":"HP:6001304","name":"Fractured lunate bone","obsolete":false,"parents":["HP:0041248"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lunate bone fracture"},{"scope":"EXACT","text":"Lunate fracture"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the triquetrum bone.","id":"HP:6001305","name":"Fractured triquetrum bone","obsolete":false,"parents":["HP:0041248"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Triquetrum bone fracture"},{"scope":"EXACT","text":"Triquetrum fracture"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the pisiform bone.","id":"HP:6001306","name":"Fractured pisiform bone","obsolete":false,"parents":["HP:0041248"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pisiform bone fracture"},{"scope":"EXACT","text":"Pisiform fracture"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the trapezium bone.","id":"HP:6001307","name":"Fractured trapezium bone","obsolete":false,"parents":["HP:0041248"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Trapezium bone fracture"},{"scope":"EXACT","text":"Trapezium fracture"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the trapezoid bone.","id":"HP:6001308","name":"Fractured trapezoid bone","obsolete":false,"parents":["HP:0041248"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Trapezoid bone fracture"},{"scope":"EXACT","text":"Trapezoid fracture"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the capitate bone.","id":"HP:6001309","name":"Fractured capitate bone","obsolete":false,"parents":["HP:0041248"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Capitate bone fracture"},{"scope":"EXACT","text":"Capitate fracture"}]} +{"alt_ids":[],"definition":"A partial or complete breakage of the hamate bone.","id":"HP:6001310","name":"Fractured hamate bone","obsolete":false,"parents":["HP:0041248"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hamate bone fracture"},{"scope":"EXACT","text":"Hamate fracture"}]} +{"alt_ids":[],"definition":"An abnormal enlargement or swelling in the abdomen that pulses or throbs.","id":"HP:6001311","name":"Pulsatile abdominal mass","obsolete":false,"parents":["HP:0031500"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Pulsating abdominal mass"}]} +{"alt_ids":[],"definition":"An abnormal enlargement or swelling in the abdomen that does not pulse or throb.","id":"HP:6001312","name":"Nonpulsatile abdominal mass","obsolete":false,"parents":["HP:0031500"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A form of acquired anophthalmos resulting from surgical removal of the eye (enucleation or evisceration), typically performed due to trauma, intraocular tumors, intractable pain in a blind eye, or severe infection. Unlike congenital anophthalmos, the orbit may have previously developed normally and prosthetic rehabilitation is often pursued.","id":"HP:6001313","name":"Iatrogenic anophthalmos","obsolete":false,"parents":["HP:0012372"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Activity or concentration of in the level of glutathione peroxidase (EC 1.11.1.9) in erythrocytes below the lower limit of normal.","id":"HP:6001314","name":"Reduced erythrocyte glutathione peroxidase","obsolete":false,"parents":["HP:0030272"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Glutathione peroxidase low in erythrocytes"}]} +{"alt_ids":[],"definition":"The concentration of malonylcarnitine in the blood circulation is above the upper limit of normal.","id":"HP:6001315","name":"Elevated circulating malonyl carnitine concentration","obsolete":false,"parents":["HP:0010966"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated Blood C3DC level"},{"scope":"EXACT","text":"Elevated C3DC in plasma"},{"scope":"EXACT","text":"Elevated levels of malonylcarnitine in blood acylcarnitine profile"},{"scope":"EXACT","text":"Elevated plasma malonylcarnitine level"}]} +{"alt_ids":[],"definition":"Abnormal decrease in the number of Sertoli cells in the testis.","id":"HP:6001316","name":"Sertoli cell hypoplasia","obsolete":false,"parents":["HP:0000035"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal result of the talar tilt test. This test assesses ankle ligament integrity, particularly the calcaneofibular ligament (CFL) and the deltoid ligaments. To perform the test, the foot is placed at an angle of 90 degrees with the leg, the calcaneofibular ligament is perpendicular and the anterior talofibular ligament is parallel to the long axis of the talus. Therefore, inversion in this position results in strain on the calcaneofibular ligament.","id":"HP:6001317","name":"Positive talar tilt test","obsolete":false,"parents":["HP:0034674"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A purpuric lesion that is larger than 1 cm in diameter and is located on the sole of the foot.","id":"HP:6001318","name":"Plantar ecchymosis","obsolete":false,"parents":["HP:0031364"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"History of prolonged compressive pressure in the axillary region.","id":"HP:6001319","name":"Prolonged exposure to axillary pressure","obsolete":false,"parents":["HP:4000110"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Prolonged axillary pressure"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the outer side of the ankle.","id":"HP:6001320","name":"Lateral ankle pain","obsolete":false,"parents":["HP:0030840"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the inner side of the ankle.","id":"HP:6001321","name":"Medial ankle pain","obsolete":false,"parents":["HP:0030840"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back of the ankle.","id":"HP:6001322","name":"Posterior ankle pain","obsolete":false,"parents":["HP:0030840"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the front of the ankle.","id":"HP:6001323","name":"Anterior ankle pain","obsolete":false,"parents":["HP:0030840"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applied to a sign or symptom that is worsened by treatment with colchizine.","id":"HP:6001324","name":"Exacerbated by colchicine","obsolete":false,"parents":["HP:4000176"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Colchicine worsens symptoms"}]} +{"alt_ids":[],"definition":"A condition characterized by inflammation of the outer walls of retinal veins, often presenting as vascular sheathing or exudates along the venous walls.","id":"HP:6001325","name":"Retinal periphlebitis","obsolete":false,"parents":["HP:6001165"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Elevated leukocyte count in the pericardial fluid ranging from a a microscopic purulent pericardial effusion to gross pus in the pericardial space.","id":"HP:6001326","name":"Purulent pericardial effusion","obsolete":false,"parents":["HP:0001698"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A condition characterized by the localized loss or breakdown of the conjunctival epithelium, often resulting in exposure of the underlying tissue. Conjunctival erosion may cause symptoms such as redness, irritation, foreign body sensation, and tearing. It can result from trauma, chemical injuries, ocular surface diseases, or prolonged use of contact lenses.","id":"HP:6001327","name":"Conjunctival erosion","obsolete":false,"parents":["HP:0000502"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Growth of mycobacterium tuberculosis in a sputum culture.","id":"HP:6001328","name":"Positive Mycobacterium tuberculosis sputum culture","obsolete":false,"parents":["HP:0430107"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acid fast bacteria sputum culture"}]} +{"alt_ids":[],"definition":"Increased rotation of the lower part of the arm away from the body (tested with the elbow flexed and the elbow held next to the side of the body or shoulder 90 degrees abducted to the side).","id":"HP:6001329","name":"Increased external rotation of shoulder","obsolete":false,"parents":["HP:0430047"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Shoulder increased external rotation"}]} +{"alt_ids":[],"definition":"The proband is asked to flex the trunk forward with knees straight. The result of the test is considered positive (abnormal) if the palms can be made to rest flat on the floor.","id":"HP:6001330","name":"Positive trunk flexion test","obsolete":false,"parents":["HP:0001382"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal forward flexion of the trunk manoeuvre"},{"scope":"EXACT","text":"Increased forward flexion of the trunk"},{"scope":"EXACT","text":"Positive palms-to-floor maneuver"},{"scope":"EXACT","text":"Trunk flexion with palms on floor"}]} +{"alt_ids":[],"definition":"AP, oblique, or lateral view x-ray of the ankle showing radiographic evidence of osteoarthritis such as joint space narrowing, subchondral sclerosis, subchondral cysts, and/or osteophyte formation in the tibiotalar joint.","id":"HP:6001331","name":"Tibiotalar arthritis","obsolete":false,"parents":["HP:0034673"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Ankle arthritis"}]} +{"alt_ids":[],"definition":"Imaging study of the ankle revealing osteophyte (bone spur) formation at the anterior aspect of the ankle (tibial or talar neck).","id":"HP:6001332","name":"Anterior ankle osteophyte","obsolete":false,"parents":["HP:0034673"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Tibiotalar spur"}]} +{"alt_ids":[],"definition":"AP, oblique, or lateral view x-ray of the foot showing radiographic evidence of osteoarthritis in the midfoot (tarsometatarsal (TMT) joints, naviculocuneiform joint, intercuneiform joints, and/or metatarsal cuneiform joints), such as joint space narrowing, subchondral sclerosis, subchondral cysts, and/or osteophyte formation in the tibiotalar joint.","id":"HP:6001333","name":"Midfoot arthritis","obsolete":false,"parents":["HP:0001832"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Concentration of reverse T3 (3,3',5'-triiodothyronine or rT3) in the blood circulation is below the lower limit of normal.","id":"HP:6001334","name":"Decreased circulating reverse T3 concentration","obsolete":false,"parents":["HP:0025120"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Distribution of findings in hands and feet with a distal to proximal gradient of severity (being more severe in the more distal locations).","id":"HP:6001335","name":"Stocking-glove distribution","obsolete":false,"parents":["HP:0012838"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A radiological sign related to infiltration of histiocytes into the kidneys and perirenal fat. This infiltration, along with thickening of fibrous bands within the perirenal fat, creates a hairy appearance on cross-sectional imaging studies.","id":"HP:6001336","name":"Hairy kidney sign","obsolete":false,"parents":["HP:0012210"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Perinephric infiltration"}]} +{"alt_ids":[],"definition":"On a typical diet (e.g., no dietary fat restriction), the intestinal mucosa may have a gelee blanche or white hoar frosting appearance on endoscopy.","id":"HP:6001337","name":"White appearance of duodenal mucosa","obsolete":false,"parents":["HP:0002246"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gelee blanche appearance of duodenal mucosa"},{"scope":"EXACT","text":"White hoar frosting appearance of duodenal mucosa"}]} +{"alt_ids":[],"definition":"An acromioclavicular (AC) joint joint separation, often called a shoulder separation, is a dislocation of the clavicle from the acromion. This feature is ascertainable radiographically by AC joint x-ray views including bilateral anteroposterior (AP) view, axillary lateral view, and/or Zanca view showing either superior, posterior, or inferior displacement of the distal clavicle in relation to the acromion at the AC joint.","id":"HP:6001338","name":"Acromioclavicular joint separation","obsolete":false,"parents":["HP:0000889"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Degenerative disease of the acromioclavicular (AC) joint that manifests radiographically as Zanca view X-ray of the AC joint showing radiographic evidence of osteoarthritis such as joint space narrowing, subchondral sclerosis, subchondral cysts, and/or osteophyte formation in the AC joint.","id":"HP:6001339","name":"Acromioclavicular joint arthritis","obsolete":false,"parents":["HP:0000889"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Osteoarthritis of the acromioclavicular joint"}]} +{"alt_ids":[],"definition":"A test used with suspected chronic acromioclavicular joint lesions (which are a common source of pain and disability in the shoulder). The test is considered positive with pain in the ipsilateral acromioclavicular joint when patient straightens the affected arm forward and reaches for the contralateral shoulder with extra manual cross body (adduction) pressure on the arm from the examiner.","id":"HP:6001340","name":"Positive shoulder cross-body adduction test","obsolete":false,"parents":["HP:0033129"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive scarf test"}]} +{"alt_ids":[],"definition":"Proximal humeral epiphysiolysis (Little League shoulder) is a shear or stress injury of the epiphyseal cartilage of the proximal humerus. Anteroposterior (AP) view of the shoulder in external rotation showing widening of the proximal humerus physis in comparison to contralateral shoulder with possible metaphyseal bony irregularity.","id":"HP:6001341","name":"Proximal humeral epiphysiolysis","obsolete":false,"parents":["HP:0010598"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Little league shoulder"}]} +{"alt_ids":[],"definition":"A test for ankle instability in which an anterior pull on the calcaneus with is applied with one hand while stabilizing the end of the tibia/fibula with the other hand. The test is considered positive (abnormal) if it results in more than one cm of anterior translation of the foot compared to the healthy, contralateral ankle.","id":"HP:6001342","name":"Positive anterior drawer test","obsolete":false,"parents":["HP:0034674"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anterior drawer test positive"}]} +{"alt_ids":[],"definition":"Injury to a peroneal tendon, as can be ascertained by an MRI study of the ankle showing partial or complete tear of one or both of the peroneal tendons.","id":"HP:6001343","name":"Peroneal tendon tear","obsolete":false,"parents":["HP:0034673"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Iselin's disease is a traction apophysitis of base of fifth metatarsal. The apophysis is within the peroneus brevis tendon insertion site and appears radiographically at about age 10 in female and age 12 in male and usually fuses by age 11 in female and by age 14 in male. Repetitive microtrauma from the peroneus brevis tendon, as occurs in sports activities is the cause of traction apophysitis. It can be ascertained by oblique foot radiographs showing apophyseal irregularity (enlarged apophysis, disordered ossification, widened chondro-osseous junction) at the base of the fifth metatarsal.","id":"HP:6001344","name":"Fifth metatarsal apophysitis","obsolete":false,"parents":["HP:0008089"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Iselin disease"}]} +{"alt_ids":[],"definition":"Lateral knee radiograph showing tibial tuberosity apophysis irregularity and fragmentation; tibial tubercle osteochondrosis; traction apophysitis of the tibial tubercle.","id":"HP:6001345","name":"Tibial tubercle apophysitis","obsolete":false,"parents":["HP:0002992"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Osgood-Schlatter disease"}]} +{"alt_ids":[],"definition":"Near absence of small intestinal and colonic endocrine cells. This feature can be ascertained histopathologically and may also be manifested as a lack of staining for enteroendocrive markers such as synaptophysin.","id":"HP:6001346","name":"Enteric anendocrinosis","obsolete":false,"parents":["HP:0002242"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Avascular necrosis of a metatarsal head, most commonly involving the second, but also the third or fourth, metatarsal.\nComment: Affected individuals may present with foot pain on weight-bearing, swelling, and tenderness. Radiological features include widening of the metatarsophalangeal joint space and flattening of the affected metatarsal head, at later stages metatarsal head sclerosis, cortical thickening, and intra-articular loose bodies. Osteochondrosis is a condition resulting from an epiphysis injury that alters enchondral ossification and produces irregularity at the joint surface. Freiberg disease is characterized as osteochondrosis of the metatarsal heads (primarily the second).","id":"HP:6001347","name":"Metatarsal head osteochondrosis","obsolete":false,"parents":["HP:0001832"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Freiberg disease"},{"scope":"EXACT","text":"Freiberg infarction"},{"scope":"EXACT","text":"Metatarsal head osteonecrosis"}]} +{"alt_ids":[],"definition":"Inflammation of the sesamoid bones of the hallux ( two ovoid-shaped ossicles embedded within the tendons under the big toe). This feature can be ascertained by MRI of the foot, revealing edema within one or both of the hallux sesamoids.","id":"HP:6001348","name":"Hallux sesamoiditis","obsolete":false,"parents":["HP:0001844"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Os trigonum (OT) is one of the most common accessory ossicles in the foot and ankle region. In clinical practice, OT is a considerable factor that may predispose patients to posterior ankle impingement syndrome (PAIS). Lateral ankle x-ray with foot in plantarflexion reveals an accessory ossicle at the posterior aspect of the talus, between the posterior distal tibia and calcaneal tuberosity.","id":"HP:6001349","name":"Os trigonum","obsolete":false,"parents":["HP:0008365"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The squeeze test is the most common examination for diagnosing calcaneal apophysitis (Sever disease) and is conducted by compressing the medial and lateral aspects of the calcaneus. The test is considered positive (abnormal) if squeezing elicits pain.","id":"HP:6001350","name":"Positive heel squeeze test","obsolete":false,"parents":["HP:0034674"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive calcaneal squeeze test"}]} +{"alt_ids":[],"definition":"Inflammation of the calcaneal apophysis (bony projection where the Achilles tendon attaches to the heel). Lateral foot x-ray shows increased density in the calcaneal apophysis or fragmentation of the apophysis.","id":"HP:6001351","name":"Calcaneal apophysitis","obsolete":false,"parents":["HP:0008364"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of guanidinoacetic acid in the blood circulation is below the lower limit of normal.","id":"HP:6001352","name":"Decreased circulating guanidinoacetic acid concentration","obsolete":false,"parents":["HP:0033108"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Low serum GAA concentration"},{"scope":"EXACT","text":"Reduced circulating guanidinoacetic acid concentration"}]} +{"alt_ids":[],"definition":"The concentration of cholestane-3beta, 5alpha, 6beta-triol (C-triol) in the blood circulation is above the upper limit of normal. C-triol is a diagnostic biomarker for Niemann-Pick disease type C.","id":"HP:6001353","name":"Elevated circulating C-triol concentration","obsolete":false,"parents":["HP:0003119"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Elevated circulating cholestane-3beta,5alpha,6beta-triol concentration"}]} +{"alt_ids":[],"definition":"A type of oocyte maturation arrest that occurs prior to the breakdown of the germinal vesicle (which is a hallmark of reinitiation of meiosis I and entry into M phase).","id":"HP:6001354","name":"Germinal vesicle oocyte maturation arrest","obsolete":false,"parents":["HP:0034914"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The morphologic classification of MII generally denotes an oocyte that is mature, having arrested in metaphase II and is presumed to be capable of fertilization. However, there are subsets of women who produce oocytes with MII morphology that are not capable of embryo formation even with fertilization. This incongruence between morphologic maturity and capacity could be attributed to either the inclusion within the morphologic classification immature oocytes arrested at any stage between PBI formation and metaphase II, which are not capable of fertilization, or oocytes arrested normally at metaphase II that do not possess the ability to complete meiosis.","id":"HP:6001355","name":"Metaphase II oocyte maturation arrest","obsolete":false,"parents":["HP:0034914"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Metaphase II oocyte meiotic arrest"},{"scope":"EXACT","text":"Oocyte arrest at metaphase II"}]} +{"alt_ids":[],"definition":"A type of oocyte maturation failure whereby oocytes arrest at more than one stage of meiosis.","id":"HP:6001356","name":"Mixed oocyte maturation arrest","obsolete":false,"parents":["HP:0034914"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pain localized to dorsal (non-palmar) aspect of the forearm.","id":"HP:6001357","name":"Dorsal forearm pain","obsolete":false,"parents":["HP:6000299"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pain on the volar (palmar) aspect of the forearm.","id":"HP:6001358","name":"Volar forearm pain","obsolete":false,"parents":["HP:6000299"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A non-neoplastic gallbladder polyp that is hyperplastic and consists of a lipid deposit. Cholesterol polyps are generally less than 10 mm. often multiple cholesterol polyps are present. They are often associated with vesicular cholesterolosis and are thought to have no malignant potential.","id":"HP:6001359","name":"Cholesterol gallbladder polyp","obsolete":false,"parents":["HP:6001260"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A gait abnormality characterized by excessive lumbar lordosis (swayback posture, i.e., an inward curvature of the lower spine) and gait pattern with forward tilt of the pelvis and increased lumbar curvature. Hyperlordotic gait is often as a compensatory mechanism for hip extensor weakness, proximal muscle weakness, or hip flexion contracture.","id":"HP:6001360","name":"Hyperlordotic gait","obsolete":false,"parents":["HP:0001288"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Gait with exaggerated lumbar lordosis"}]} +{"alt_ids":[],"definition":"A tear in the fibrous sheet connecting the radius and ulna bones in the forearm.","id":"HP:6001361","name":"Radioulnar interosseous membrane tear","obsolete":false,"parents":["HP:0002818"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A radiograpzhic sign in which small bone fragments detached from the olecranon are seen on lateral radiographs in cases with avulsion of the tendon.","id":"HP:6001362","name":"Fleck sign of elbow","obsolete":false,"parents":["HP:0004032"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dunn-Kusnezov sign"},{"scope":"EXACT","text":"Flake sign of the elbow"}]} +{"alt_ids":[],"definition":"Active wrist flexion against resistance increases pain in the arm.","id":"HP:6001363","name":"Resisted wrist flexion provokes pain","obsolete":false,"parents":["HP:0030836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A chronic symptomatic degeneration of the wrist extensor tendons involving their attachment to the lateral epicondyle of the humerus, and is associated clinically with lateral elbow pain (tennis elbow). This term refers to the associated imaging finding. Ultrasound imaging showing extensor carpi radialis brevis (ECRB) tendon thickening and hypoechoic areas with increased vascularity or MRI showing increased signal intensity or tear at the insertion site of the ECRB on the lateral aspect of the elbow.","id":"HP:6001364","name":"Lateral epicondylitis of the elbow","obsolete":false,"parents":["HP:0020300"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Medial epicondylitis, often referred to as golfer's elbow, is a common pathology. Flexor-pronator tendon degeneration occurs with repetitive forced wrist extension and forearm supination during activities involving wrist flexion and forearm pronation. This term refers to the associated imaging finding. Ultrasound imaging showing ECRB tendon thickening and hypoechoic areas with increased vascularity or MRI showing increased signal intensity or tear at the insertion site of the common flexor tendon.","id":"HP:6001365","name":"Medial epicondylitis of the elbow","obsolete":false,"parents":["HP:0020300"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Golfer's elbow"}]} +{"alt_ids":[],"definition":"Exaggerated bulging of the belly of the biceps muscle upon contraction.","id":"HP:6001366","name":"Popeye sign","obsolete":false,"parents":["HP:0034430"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Rupture (tear) of the distal biceps tendon. Ultrasound imaging showing complete discontinuity of the distal biceps tendon or MRI revealing complete distal biceps tendon discontinuity or increased signal intensity in the distal biceps tendon.","id":"HP:6001367","name":"Distal biceps tendon rupture","obsolete":false,"parents":["HP:6001262"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Distal biceps tendon tear"}]} +{"alt_ids":[],"definition":"Rupture (tear) of the proximal biceps tendon. MRI reveals a tear of the proximal aspect of the biceps tendon near its site of origin at the supraglenoid tubercle.","id":"HP:6001368","name":"Proximal biceps tendon rupture","obsolete":false,"parents":["HP:6001262"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Proximal biceps tendon tear"}]} +{"alt_ids":[],"definition":"Detection of an infectious agent, or evidence thereof, in aspirated bursal fluid using microbiological, molecular, or antigen-based testing methods.","id":"HP:6001369","name":"Positive bursal fluid infectious agent test","obsolete":false,"parents":["HP:0430030"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A condition characterized by the death of retinal tissue due to ischemia, infection, or inflammation.","id":"HP:6001370","name":"Acute retinal necrosis","obsolete":false,"parents":["HP:0000479","HP:5210265"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Acute necrosis of the retina"},{"scope":"EXACT","text":"Retinal necrosis due to infection"}]} +{"alt_ids":[],"definition":"Cystic lesions of the proximal humerus are commonly encountered on routine shoulder magnetic resonance imaging (MRI). True cysts are defined as fluid-filled structures or lesions with an epithelial lining, whereas pseudocysts are fluid-filled lesions without epithelial lining. Cystic lesion encompasses both true cysts, pseudocysts and other lesions which could mimic the appearance of a cyst on MRI, with increased signal on fluid sensitive sequences.","id":"HP:6001371","name":"Cystic changes in greater tuberosity of the humerus","obsolete":false,"parents":["HP:0031095"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Manual internal rotation on the forearm with the shoulders flexed forward to 90 degrees, elbows bent to 90 degrees so that the forearm is parallel to the ground, and palm facing down recreates pain in the shoulder region; named after Dr. Hawkins.","id":"HP:6001372","name":"Positive Hawkins test","obsolete":false,"parents":["HP:0025823"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive Hawkins impingement test"},{"scope":"EXACT","text":"Positive Kennedy impingement test"}]} +{"alt_ids":[],"definition":"Reduced ability to exert force or power with the hallux (big toe), i.e., reduced strength of the hallux.","id":"HP:6001373","name":"Hallux weakness","obsolete":false,"parents":["HP:0003690"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced ability to lift the big toe (hallux) upward toward the shin.","id":"HP:6001374","name":"Hallux dorsiflexion weakness","obsolete":false,"parents":["HP:0003690"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced ability to push the big toe (hallux) downward, away from the shin.","id":"HP:6001375","name":"Hallux plantarflexion weakness","obsolete":false,"parents":["HP:0003690"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized about the metatarsal heads in the front part of the foot.","id":"HP:6001376","name":"Forefoot pain","obsolete":false,"parents":["HP:0025238"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Metatarsalgia"}]} +{"alt_ids":[],"definition":"A bone spur (osteophyte), i.e., de novo bone formation at the lower edge of the patella (knee cap). Radiographically, it is visible as calcification at inferior pole of the patella.","id":"HP:6001377","name":"Spur at inferior pole of patella","obsolete":false,"parents":["HP:0003045"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of urine in the peritoneal cavity, an entity that typically results from bladder rupture or damage to the ureters.","id":"HP:6001378","name":"Urinary ascites","obsolete":false,"parents":["HP:0001541"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal oxygen saturation in mixed venous blood (SvO2). SvO2 can be measured in a sample of mixed venous blood drawn from the distal lumen of a catheter placed in the pulmonary artery. The SvO2 is dependent on arterial oxygen saturation, hemoglobin concentration, cardiac output, and tissue oxygen demands.","id":"HP:6001379","name":"Abnormal mixed venous oxygen saturation","obsolete":false,"parents":["HP:0500165"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of lysosphingomyelin in the blood circulation is above the upper limit of normal. Acid sphingomyelinase deficiency (ASMD) or Niemann-Pick type A/B is a lysosomal disorder caused by the deficiency of acid sphingomyelinase (ASM) due to pathogenic variants in the SMPD1 gene. Sphingomyelin (SM) is the substrate for ASM that cleaves the phosphorylcholine linkage of SM producing ceramide. SM is a major compound of most cell membranes and coupled with cholesterol constitutes most of the membrane rafts. In the deficiency of ASM, there is primary storage of SM, and the concentration of lysosphingomyelin in dried blood spots and in the blood circulation is typically elevated.","id":"HP:6001380","name":"Elevated circulating lysosphingomyelin concentration","obsolete":false,"parents":["HP:0003119"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the lens capsule, the smooth, transparent, acellular basement membrane that envelops the lens of the eye and serves as the attachment site for the lens zonules and the lens epithelium.","id":"HP:6001381","name":"Abnormal lens capsule morphology","obsolete":false,"parents":["HP:0004328"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Posterior capsule opacification, also known as secondary cataract, is the most frequent complication following manual extracapsular cataract extraction. Secondary cataract results from the proliferation and migration of residual epithelial cells in the posterior region of the lens capsule into the visual axis, leading to thickening and reduction in transparency (opacification), which in turn can cause a decrease in visual acuity.","id":"HP:6001382","name":"Posterior capsule opacification","obsolete":false,"parents":["HP:0004328"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Secondary cataract"}]} +{"alt_ids":[],"definition":"A narrowing (constriction) of the lumen of a bronchus, which may involve one or more of the major airways branching from the trachea.","id":"HP:6001383","name":"Bronchial stenosis","obsolete":false,"parents":["HP:0025426"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bronchial narrowing"}]} +{"alt_ids":[],"definition":"Skin tenting may occur in the setting of a fracture when a displaced bone fragment pushes on the skin, causing it to bulge outward in a tent-like shape.","id":"HP:6001384","name":"Skin tenting due to fracture","obsolete":false,"parents":["HP:0011355"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of conjunctivitis characterized by the formation of conjunctival follicles, which appear as raised domes on the are round collections of lymphocytes, and are often most prominent in the inferior fornix (interior part of the lower eyelid).","id":"HP:6001385","name":"Follicular conjunctivitis","obsolete":false,"parents":["HP:0000509"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of conjunctivitis characterized by the formation of conjunctival granulomata, i.e., localized nodular inflammatory lesions of the conjunctiva, characterized histologically by aggregates of epithelioid histiocytes, often with multinucleated giant cells, surrounded by lymphocytes and fibroblasts.","id":"HP:6001386","name":"Granulomatous conjunctivitis","obsolete":false,"parents":["HP:0000509"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Linear streaks of hypopigmentation or hyperpigmentation that are distributed according to Blaschko lines, which are V-shaped, S-shaped, or linear patterns on the skin that reflect the embryonic migration pathways of epidermal cells (keratinocytes, melanocytes, etc.) during early development.","id":"HP:6001387","name":"Areas of hypopigmentation and hyperpigmentation that follow Blaschko lines","obsolete":false,"parents":["HP:0009123"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Small focal extracellular deposits underneath the retina, visible ophthalmoscopically as yellow dots.","id":"HP:6001388","name":"Retinal drusen","obsolete":false,"parents":["HP:0000479"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental anomaly characterized by partial or complete absence of a limb or digit at birth, resulting from interruption of normal limb development in utero.","id":"HP:6001389","name":"Intrauterine amputation","obsolete":false,"parents":["HP:0025662"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Congenital amputation"},{"scope":"EXACT","text":"Intra-uterine amputation"}]} +{"alt_ids":[],"definition":"A developmental anomaly characterized by partial or complete absence of a finger or toe at birth, resulting from interruption of normal development in utero.","id":"HP:6001390","name":"Intrauterine digital amputation","obsolete":false,"parents":["HP:6001389"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A developmental anomaly characterized by partial or complete absence of an arm or leg at birth, resulting from interruption of normal development in utero.","id":"HP:6001391","name":"Intrauterine limb amputation","obsolete":false,"parents":["HP:6001389"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation and deterioration of the proximal interphalangeal (PIP) joints. Radiographically, PIP arthritis can be characterized by PIP joint space narrowing, subchondral cysts, and osteophytes.","id":"HP:6001392","name":"Proximal interphalangeal joint arthritis","obsolete":false,"parents":["HP:0001369"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A nondissociative form of carpal instability, in which the lunate bone angulates to the dorsal side of the hand.","id":"HP:6001393","name":"Dorsal intercalated segment instability","obsolete":false,"parents":["HP:0025799"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The arcs of the Gilula are used on PA wrist radiographs as part of assessing the normal alignment of the carpus. The 1st arc (red) outlines the proximal surfaces and the 2nd arc (yellow) the distal surfaces of the scaphoid, lunate and triquetrum. The 3rd arc (white) outlines the proximal surfaces of the capitate and hamate. Disruption of carpal arcs (i.e., the arcs appear broken or discontinuous on radiographs) indicates a fracture or ligamentous injury in the wrist.","id":"HP:6001394","name":"Disruption of carpal arcs","obsolete":false,"parents":["HP:0025798"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Disruption of Gilula carpal arcs"}]} +{"alt_ids":[],"definition":"Dislocation of the lunate bone, generally as a result of trauma. Volar displacement of the lunate is said to result a tipped teacup.","id":"HP:6001395","name":"Spilled teacup sign of the wrist","obsolete":false,"parents":["HP:0004248"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Finkelstein's test produces severe tenderness and usually pain on the radial aspect of the wrist when the thumb is flexed into the palm and the wrist is ulnar deviated.","id":"HP:6001396","name":"Positive Finkelstein sign","obsolete":false,"parents":["HP:0025799"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Outward deviation or turning of the front part of the foot away from the body's midline. An anteroposterior foot x-ray shows increased Simmon angle (angle between the talus and first metatarsal, normal is 7 degrees plus/minus 4 to 5 degrees) or increased talonavicular uncoverage of over 30 to 40 percent. A common clinical observation is the too many toes sign; when viewed from behind, more than two toes will flare out laterally due to the valgus alignment of the foot.","id":"HP:6001397","name":"Forefoot abduction","obsolete":false,"parents":["HP:0001760"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Damage to the posterior tibialis tendon, which runs along the inside of the ankle and foot, supporting the arch of the foot. MRI or ultrasound of the ankle/foot shows posterior tibial tendon degeneration such as tendinosis, tenosynovitis, edema around the tendon, or tendon tear.","id":"HP:6001398","name":"Posterior tibial tendon injury","obsolete":false,"parents":["HP:0001760"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to palpation of plantar aspect of the foot (the sole).","id":"HP:6001399","name":"Plantar pain","obsolete":false,"parents":["HP:0025238"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Damage to the flexor hallucis longus (FHL) tendon. The FHL tendon is a long tendon that runs from the deep calf muscle down through the ankle to the big toe, enabling toe flexion and supporting foot mechanics.. MRI or ultrasound of the ankle/foot shows degenerative changes of the FHL tendon such as fluid around the tendon at the level of the ankle joint, intra-substance tendinous signal, tendon thickening, tendonitis, or tenosynovitis, or tendon rupture.","id":"HP:6001400","name":"Flexor hallucis longus tendon injury","obsolete":false,"parents":["HP:0001844"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the big toe (hallux).","id":"HP:6001401","name":"Hallux pain","obsolete":false,"parents":["HP:0030841"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Big toe pain"},{"scope":"EXACT","text":"First toe pain"},{"scope":"EXACT","text":"Great toe pain"},{"scope":"EXACT","text":"Pain in hallux"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the side of the foot nearest to the big toe (hallux).","id":"HP:6001402","name":"Pain on the medial aspect of the foot","obsolete":false,"parents":["HP:0025238"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Damage affecting one or both of the two small, pea-shaped bones (sesamoids) embedded in the tendons beneath the first metatarsophalangeal joint of the big toe. Foot x-ray shows fracture, subluxation, or dislocation of the sesamoid of the hallux.","id":"HP:6001403","name":"Hallux sesamoid injury","obsolete":false,"parents":["HP:0001844"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the radial side of the wrist.","id":"HP:6001404","name":"Radial wrist pain","obsolete":false,"parents":["HP:0030836"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Radial-sided wrist pain"}]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the volar side of the wrist (i.e., to the palm side - front - of the wrist).","id":"HP:6001405","name":"Volar wrist pain","obsolete":false,"parents":["HP:0030836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the dorsal side (back) of the wrist.","id":"HP:6001406","name":"Dorsal wrist pain","obsolete":false,"parents":["HP:0030836"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pain elicited with palpation along the course of the peroneal tendons, located posterior to the lateral malleolus and extending distally toward the base of the fifth metatarsal.","id":"HP:6001407","name":"Peroneal tendon tenderness","obsolete":false,"parents":["HP:0025238"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Dynamic ultrasound of the lateral ankle showing subluxation or dislocation of one or both of the peroneal tendons out of the peroneal groove.","id":"HP:6001408","name":"Peroneal tendon subluxation","obsolete":false,"parents":["HP:0034673"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Ankle MRI or ultrasound showing edema or thickening of peroneal tendon(s), fluid within peroneal tendon sheath, or a partial or complete tear in one or both of the peroneal tendons.","id":"HP:6001409","name":"Peroneal tendon injury","obsolete":false,"parents":["HP:0034673"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of succinylacetone in the blood circulation is above the upper limit of normal.","id":"HP:6001410","name":"Elevated circulating succinylacetone concentration","obsolete":false,"parents":["HP:0004354"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Succinylacetone high in blood"}]} +{"alt_ids":[],"definition":"Reduced height of the palate. A flat palate is present with a palatal index angle below 30 degrees, a normal palate with an angle between 30 and 45 degrees, and a steep palate with an angle above 45 degrees.","id":"HP:6001411","name":"Flat palate","obsolete":false,"parents":["HP:0000174"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of C-terminal telopeptide cross-link of type1 collagen in the blood circulation is above the upper limit of normal.","id":"HP:6001412","name":"Elevated circulating C-terminal telopeptide cross-link of type1 collagen concentration","obsolete":false,"parents":["HP:0033386"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Applied to a sign or symptom that is worsened by treatment with a pulmonary vasodilator medication such as prostacyclin analogs, endothelin receptor antagonists, and phosphodiesterase-5 (PDE5) inhibitors.","id":"HP:6001413","name":"Exacerbated by pulmonary vasodilator exposure","obsolete":false,"parents":["HP:4000176"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Exacerbated by pulmonary vasodilators"}]} +{"alt_ids":[],"definition":"History of exposure to mercury.","id":"HP:6001414","name":"Mercury exposure","obsolete":false,"parents":["HP:4000110"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Encapsulated collections of urine around the kidney in the retroperitoneum, most commonly in the perirenal space, as a consequence of renal tract leakage caused by urinary obstruction, trauma, or post-instrumentation.","id":"HP:6001415","name":"Urinoma","obsolete":false,"parents":["HP:6000285"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal fluid draining from the umbilicus (from wounds, surgical sites, or fistulas).","id":"HP:6001416","name":"Umbilical discharge","obsolete":false,"parents":["HP:0004298"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Abnormal biparietal diameter (BPD) refers to a fetal head width measurement, taken between the outer edge of the proximal parietal bone and the inner edge of the distal parietal bone on an ultrasound image, that lies outside the expected range for a given gestational age. The expected range typically falls between the 10th and 90th percentiles, with microcephaly defined as a BPD below the 3rd percentile (or more than 2 standard deviations below the mean) and macrocephaly defined as a BPD above the 97th percentile (or more than 2 standard deviations above the mean).","id":"HP:6001417","name":"Abnormal biparietal diameter","obsolete":false,"parents":["HP:0034245"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal BPD"}]} +{"alt_ids":[],"definition":"Femur length is measured between the outer border of one end of the the femoral diaphysis to the other outer border, excluding the epiphysis or other artifact. Abnormal femur length is defined as being more than two standard deviations away from the mean.","id":"HP:6001418","name":"Abnormal fetal femur length","obsolete":false,"parents":["HP:0025662"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pain worsens with wrist ulnar deviation (i.e., the pain is exacerbated if the hand is moved towards the side with the fifth finger).","id":"HP:6001419","name":"Pain exacerbated by wrist ulnar deviation","obsolete":false,"parents":["HP:6001152"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pain worsens with wrist radial deviation (i.e., the pain is exacerbated if the hand is moved towards the side with the thumb).","id":"HP:6001420","name":"Pain exacerbated by wrist radial deviation","obsolete":false,"parents":["HP:6001152"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A phenomenon whereby the distal ulna articular surface is more distal than the distal radius articular surface.","id":"HP:6001421","name":"Ulnar positive variance","obsolete":false,"parents":["HP:0002973"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Negative ulnar variance is a condition in which the ulna is relatively shorter than the radius at the carpus. AP wrist X-ray shows the distal ulna articular surface more proximal than the distal radius articular surface.","id":"HP:6001422","name":"Negative ulnar variance","obsolete":false,"parents":["HP:0002973"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the flexor carpi radialis (FCR) tendon, which traverses the carpus through a narrow fibro-osseous tunnel.","id":"HP:6001423","name":"Flexor carpi radialis tendonitis","obsolete":false,"parents":["HP:0025230"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"FCR inflammation"}]} +{"alt_ids":[],"definition":"A transillumination test involves shining light through an area of the body or a mass. This term refers to a transillumination test that shows especially high (positive) transillumination, which may be observed when a mass or swelling contains clear fluid rather than solid tissue or blood.","id":"HP:6001424","name":"Transillumination test shows high light transmission","obsolete":false,"parents":["HP:0025758"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bright transillumination"}]} +{"alt_ids":[],"definition":"Hyperleukocytosis is commonly defined as a white blood cell (WBC) count of greater than 100,000 luekocytes per microliter.","id":"HP:6001425","name":"Hyperleukocytosis","obsolete":false,"parents":["HP:0001974"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Impairment of the ability of the elbow joint to maintain proper anatomical alignment and functional mechanics. Elbow instability is a spectrum from subluxation to dislocation, with corresponding clinical and pathologic features and therapeutic implications.","id":"HP:6001426","name":"Elbow instability","obsolete":false,"parents":["HP:0020301"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of elbow instability that arises through injuries to the medial collateral ligament (MCL), specifically the anterior bundle (AMCL). In the valgus stress test, the elbow is placed in 20 to 30 degrees of flexion with the forearm supinated and a valgus stress is applied. The test is positive when no firm end point is palpated, greater than 1 mm of medial joint opening is noted (fluoroscopically), or there is reproduction of the patient's pain.","id":"HP:6001427","name":"Valgus instability of the elbow","obsolete":false,"parents":["HP:6001426"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of elbow insttability characterized by abnormal widening or gapping of the lateral (radial) side of the elbow joint when a varus stress is applied, due to insufficiency of the lateral collateral ligament complex.","id":"HP:6001428","name":"Varus instability of the elbow","obsolete":false,"parents":["HP:6001426"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Decreased foot eversion secondary to pain, weakness, or mechanical block.","id":"HP:6001429","name":"Limited foot eversion","obsolete":false,"parents":["HP:0034430"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foot eversion limited"}]} +{"alt_ids":[],"definition":"Decreased foot inversion secondary to pain, weakness, or mechanical block.","id":"HP:6001430","name":"Limited foot inversion","obsolete":false,"parents":["HP:0034430"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foot inversion limited"}]} +{"alt_ids":[],"definition":"Demonstration of Tropheryma whipplei bacteria in the synovial (joint) fluid by microscopic analysis.","id":"HP:6001431","name":"Positive synovial Tropheryma whipplei bacteria microscopy","obsolete":false,"parents":["HP:6000581"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal result of the calf-squeeze test (also known as the Thompson test), which is considered a sign of Achilles tendon rupture. The test is positive (abnormal) if no plantar flexion of the foot occurs at calf squeezing.","id":"HP:6001432","name":"Positive calf squeeze test","obsolete":false,"parents":["HP:0011843"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Positive Simmonds-Thompson test"},{"scope":"EXACT","text":"Positive Thompson test"}]} +{"alt_ids":[],"definition":"A partial or complete break in the Achilles tendon (the tendon that connects the gastrocnemius and soleus to the calcaneus). This feature can be ascertained by magnetic resonance imaing (MRI) of the foot/ankle showing partial or complete tear of the achilles tendon.","id":"HP:6001433","name":"Achilles tendon tear","obsolete":false,"parents":["HP:0005109"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Demonstration of the presence of bacteria by gram staining of bursa fluid. The sample is generally obtained by bursal fluid aspiration.","id":"HP:6001434","name":"Positive bursa fluid gram stain","obsolete":false,"parents":["HP:0430030"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A structural anomaly of the medial epicondyle, which is the site of the attachment of various muscles, including the radial and ulnar flexor of the wrist, the superficial flexor of the fingers, the palmaris longus and the pronator teres muscle.","id":"HP:6001435","name":"Abnormal medial epicondyle morphology","obsolete":false,"parents":["HP:0031095"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An avulsion fracture of the medial epicondyle of the elbow. Radiological examination in the anteroposterior and lateral projection can be used to make the diagnosis and to determine the degree and direction of the fracture displacement.","id":"HP:6001436","name":"Medial humerus epicondyle avulsion fracture","obsolete":false,"parents":["HP:6001435"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A swelling or enlargement localized to the hand. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.","id":"HP:6001437","name":"Hand mass","obsolete":false,"parents":["HP:0005922"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bump on the hand"},{"scope":"RELATED","text":"Hand cyst"},{"scope":"EXACT","text":"Hand growth"},{"scope":"EXACT","text":"Hand nodule"},{"scope":"EXACT","text":"Hand tumor"},{"scope":"EXACT","text":"Lump on the hand"}]} +{"alt_ids":[],"definition":"Inflammation of the synovial sheath that surrounds a tendon.","id":"HP:6001438","name":"Tenosynovitis","obsolete":false,"parents":["HP:0100261"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Enhanced visibility of large choroidal vessels through the retinal pigment epithelium (RPE). This reticulated pattern is commonly observed on fundus examination and color fundus photography. Such hypopigmented areas alternate with hyperpigmented zones in a tigroid pattern. Fundus tessellation is often associated with myopia and choroidal thinning.","id":"HP:6001439","name":"Tigroid fundus","obsolete":false,"parents":["HP:0001098"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fundus tesselation"},{"scope":"EXACT","text":"Mosaic fundus"},{"scope":"EXACT","text":"Tessellated fundus"}]} +{"alt_ids":[],"definition":"The amount of glycogen in the myocardial tissue of the heart is below the lower limit of normal.","id":"HP:6001440","name":"Decreased myocardial glycogen content","obsolete":false,"parents":["HP:0001637"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Glycogen depletion in cardiac muscle tissue"}]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against myelin oligodendrocyte glycoprotein.","id":"HP:6001441","name":"CSF anti-myelin oligodendrocyte glycoprotein antibody positivity","obsolete":false,"parents":["HP:0032265"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The H sign can be ascertained by spinal magnetic resonance imaging (MRI) and represents spinal cord myelitis isolated to the gray matter. A longitudinally extensive T2 hyperintense spinal cord lesion from C6 to T10, predominantly involving the gray matter. The appearance of the anomaly is said to resemble the letter H.","id":"HP:6001442","name":"Spinal cord H sign","obsolete":false,"parents":["HP:0002143"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"H sign in the spinal cord"}]} +{"alt_ids":[],"definition":"Any deviation from the normal ratio of testosterone and estradiol (the primary sex steroids) to each other. The testosterone:estradiol ratio is derived from total testosterone in ng/dL and total estradiol in pg/mL, and expressed as T:E. Normal ranges are affected by sex, age, and other factors.","id":"HP:6001443","name":"Abnormal testosterone: estradiol ratio","obsolete":false,"parents":["HP:0033799"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of IGFBP-3 (Insulin-like Growth Factor-Binding Protein 3) in the blood circulation is outside the limits of normal.","id":"HP:6001444","name":"Abnormal circulating insulin-like growth factor 3 concentration","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The concentration of insulin-like growth factor 3 concentration (IGF3) in the blood circulation is below the lower limit of normal.","id":"HP:6001445","name":"Decreased circulating insulin-like growth factor 3 concentration","obsolete":false,"parents":["HP:6001444"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Inflammation of the cartilage of the airway, including especially the trachea and bronchi.","id":"HP:6001446","name":"Airway chondritis","obsolete":false,"parents":["HP:0002087","HP:0100662"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Respiratory tract chondritis"}]} +{"alt_ids":[],"definition":"inflammation of the costal cartilage (the cartilage that connects the ribs to the sternum). The typical presentation of costochondritis is bilateral parasternal chest wall pain exacerbated by deep breaths, coughing, and stretching. The upper (predominantly second through fifth) costochondral and/or costosternal junctions are most commonly involved. The areas of tenderness are not generally accompanied by heat, erythema, or localized swelling.","id":"HP:6001447","name":"Costochondritis","obsolete":false,"parents":["HP:0000772","HP:0100662"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Inflammation of he cartilage that connects the ribs to the sternum (breastbone)"}]} +{"alt_ids":[],"definition":"Past medical history of surgical procedure on the eye or its surroundings.","id":"HP:6001448","name":"History of ocular surgery","obsolete":false,"parents":["HP:0430103"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased thickness of the plantar fascia. This finding can be ascertained by ultrasound or magnetic resonance imaging.","id":"HP:6001449","name":"Increased plantar fascia thickness","obsolete":false,"parents":["HP:0001760"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Plantar fasciitis"}]} +{"alt_ids":[],"definition":"Oxygen saturation in mixed venous blood (SvO2), as measured in a sample of mixed venous blood drawn from the distal lumen of a catheter placed in the pulmonary artery, is above the upper limit of normal.","id":"HP:6001450","name":"Increased mixed venous oxygen saturation","obsolete":false,"parents":["HP:6001379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Oxygen saturation in mixed venous blood (SvO2), as measured in a sample of mixed venous blood drawn from the distal lumen of a catheter placed in the pulmonary artery, is below the lower limit of normal.","id":"HP:6001451","name":"Decreased mixed venous oxygen saturation","obsolete":false,"parents":["HP:6001379"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Characteristic chocolate-brown color of circulating blood with an elevated methemoglobin content.","id":"HP:6001452","name":"Chocolate brown blood","obsolete":false,"parents":["HP:0001871"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Circulating blood brown or black"}]} +{"alt_ids":[],"definition":"The difference between the venous-to-arterial carbon dioxide saturation (Pv-aCO2) is above the upper limit of normal.","id":"HP:6001453","name":"Elevated pCO2 gap","obsolete":false,"parents":["HP:0500164"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased pCO2 gap"}]} +{"alt_ids":[],"definition":"An imaging anomly of the putamen that is thought to be pathognomic for MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome MIM #614739). In stage 1 of the disease, T2 signal changes of the pallidum are present. In stage 2, swelling of the putamen and caudate nucleus is seen. The dorsal putamen contains an eye that shows no signal alteration and (thus) seems to be spared during this stage of the disease. It later increases, reflecting progressive putaminal involvement. Sparing of the mid dorsal putamen (showing normal signal surrounded by T2 hyperintense signal) is referred to as the putaminal eye.","id":"HP:6001454","name":"Putaminal eye sign","obsolete":false,"parents":["HP:0031982"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Axial view on shoulder X-ray or MRI showing decreased distance between posterior border of the coracoid process and anterior border of the humeral head of less than 6 mm; subcoracoid impingement; decreased coracohumeral interval.","id":"HP:6001455","name":"Decreased coracohumeral distance","obsolete":false,"parents":["HP:0003043"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Coracohumeral distance decreased"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the deltoid muscle, the large triangular intrinsic shoulder muscle, so named because its shape resembles the inverted Greek letter delta.","id":"HP:6001456","name":"Abnormal deltoid muscle morphology","obsolete":false,"parents":["HP:0001435"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An injury of the deltoid muscle of the shoulder or its tendon characterized by partial or complete rupture.","id":"HP:6001457","name":"Deltoid muscle tear","obsolete":false,"parents":["HP:0001435"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Anteropostrior (AP), axillary, or Grashey (true AP) view X-ray of the shoulder showing radiographic evidence of osteoarthritis such as joint space narrowing, subchondral sclerosis, subchondral cysts, and/or osteophyte formation in the glenohumeral joint.","id":"HP:6001458","name":"Glenohumeral arthritis","obsolete":false,"parents":["HP:0003043"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Shoulder arthritis"}]} +{"alt_ids":[],"definition":"An anomaly of the roots of a multi-rooted tooth (such as a molar) in which the roots are not physically divided by bone or periodontal ligament space.","id":"HP:6001459","name":"Dental root fusion","obsolete":false,"parents":["HP:0006486"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fused dental root"},{"scope":"EXACT","text":"Unseparated dental root"}]} +{"alt_ids":[],"definition":"A phenomenon whereby an individual struggles to float, cannot swim despite adequate training, or simply sinks. This phenomenon may be observed in individuals with conditions such as osteopetrosis that are characterized by substantially increased bone mineral density (which implies reduced bouyancy).","id":"HP:6001460","name":"Difficulty floating in water","obsolete":false,"parents":["HP:0025142"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Aortitis refers to inflammatory changes to the wall of the aorta and incorporates both infectious and non-infectious etiologies.","id":"HP:6001461","name":"Aortitis","obsolete":false,"parents":["HP:0001679"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pain in an arm that is triggered by muscular exertion.","id":"HP:6001462","name":"Upper extremity claudication","obsolete":false,"parents":["HP:0004417"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Pain in the tongue induced by speaking or chewing.","id":"HP:6001463","name":"Tongue claudication","obsolete":false,"parents":["HP:0004417"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Lingual claudication"}]} +{"alt_ids":[],"definition":"Focal, regional or diffuse magnetic resonance imaging (MRI) enhancement of intracranial perivascular spaces (PVS). This enhancement pattern is recognizable by its topography that follows PVS distribution, particularly identifiable in regions where PVS predominate (centra semiovalia, basal ganglia and the brachium pontis)15 although it can be found throughout the whole brain. Depending on the perpendicular or parallel orientation of MRI sections to the long axis of PVS, enhanced PVS appear as dots or curvilinear elements respectively. Depending on the causal pathology, PVE may appear more linear or nodular.","id":"HP:6001464","name":"Cerebral perivascular enhancement pattern","obsolete":false,"parents":["HP:0100659"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Perivascular enhancement pattern"}]} +{"alt_ids":[],"definition":"Dislocation or subluxation of the long head of the biceps tendon out of the bicipital groove (as documented by magnetic resonance imaging of the shoulder) or dynamic ultrasound of the shoulder showing subluxation or dislocation of the long head of the biceps tendon out of the bicipital groove.","id":"HP:6001465","name":"Long head of biceps tendon dislocation","obsolete":false,"parents":["HP:0100261"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"LHBT dislocation"}]} +{"alt_ids":[],"definition":"The concentration of somatostatin in the blood corculation is above the upper limit of normal.","id":"HP:6001466","name":"Elevated circulating somatostatin concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Somatostatin high in blood"}]} +{"alt_ids":[],"definition":"Absence of attached gingiva. The gingiva is subdivided into the nonattached free gingiva (which includes the gingival margin and the papillae) and the attached gingiva. The attached gingiva is tightly and unmovably bound to the periosteum via collagen type I fibers. The gingiva is keratinized and thicker than the mucosa to provide mechanical protection. The border between attached gingiva and mucosa constitutes the mucogingival junction. In vivo, it is sometimes visible as a white line . The oral mucosa is loosely connected to the periosteum and nonkeratinized. It is movable, thin, more fragile, translucent, and blood vessels are visible.","id":"HP:6001467","name":"Lack of attached gingiva","obsolete":false,"parents":["HP:0000168"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A full thickness tear of the diaphragm without significant trauma.","id":"HP:6001468","name":"Spontaneous diaphragmatic rupture","obsolete":false,"parents":["HP:0000775"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An increase in the difference between the oxygen concentration in the alveoli and arterial system above the upper limit of normal.","id":"HP:6001469","name":"Elevated alveolar-arterial (A-a) oxygen gradient","obsolete":false,"parents":["HP:0500165"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Adrenaline, noradrenaline and dopamine are degraded by catechol-O-methyltransferase (COMT) to form their inactive metabolites metanephrine, normetanephrine and 3-methoxytyramine (3-MT). When there is an indication for biochemical testing, such as suspicion of pheochromocytoma, metanephrine and normetanephrine metabolites are measured in plasma or 24-hour urine. This term represents an elevation of the concentration of metanephrine and normetanephrine in the blood circulation above the upper limit of normal.","id":"HP:6001470","name":"Abnormal concentration of circulating metanephrines","obsolete":false,"parents":["HP:0003117"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Metanephrines high in blood"}]} +{"alt_ids":[],"definition":"The concentration of 3-O-methyldopa in the blood circulation is above the upper limit of normal.","id":"HP:6001471","name":"Elevated circulating 3-O-methyldopa concentration","obsolete":false,"parents":["HP:0010996"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"3-O-methyldopa elevated"},{"scope":"EXACT","text":"Elevated circulating 3-OMD concentration"}]} +{"alt_ids":[],"definition":"The concentration of 3-O-methyldopa in the cerebrospinal fluid (CSF) is above the upper limit of normal.","id":"HP:6001472","name":"Elevated CSF 3-O-methyldopa concentration","obsolete":false,"parents":["HP:0025454"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An unchanging bending forward of the fetal head in the uterus as visualized by prenatal sonography. This sign can be defined as a lack of change in this position during the 30 min of observation. Additionally, identical head flexion is observable several times at intervals.","id":"HP:6001473","name":"Fixed fetal head flexion","obsolete":false,"parents":["HP:0034245"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The rectosigmoid (R/S) ratio, a measure comparing rectal to sigmoid colon diameter, is below the lower limit of normal on prenatal ultrasound. The rectosigmoid is normally the widest segment of the fetal colon. If the rectosigmoid is narrower than the ascending or transverse colon above it), this is called a reversed rectosigmoid ratio or abnormal rectosigmoid index. The RS ratio is calculated by dividing the transverse rectal diameter by the sigmoid diameter. An R/S ratio of 1 or more is considered normal.","id":"HP:6001474","name":"Abnormal rectosigmoid index","obsolete":false,"parents":["HP:0034207"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reversed rectosigmoid ratio"}]} +{"alt_ids":[],"definition":"Visible edema (swelling) in a cord with a minimal cross sectional area of 1-3 cm2. This may result from an excessive accumulation of Wharton jelly, resulting in a thick or edematous umbilical cord.","id":"HP:6001475","name":"Umbilical cord edema","obsolete":false,"parents":["HP:0010881"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Enterolithiasis (concretions or stones forming within the gastrointestinal tract) is a prenatal sonographic sign defined by hyperechogenic foci within the - often distended - fetal bowel.","id":"HP:6001476","name":"Fetal enterolithiasis","obsolete":false,"parents":["HP:0034207"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Enterolith in a fetal ultrasound"}]} +{"alt_ids":[],"definition":"The identification of malignant cells in cerebrospinal fluid (CSF), generally by microscopic examination of the CSF.","id":"HP:6001477","name":"Malignant cells in CSF","obsolete":false,"parents":["HP:0002921"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cerebrospinal fluid cancer cells"},{"scope":"EXACT","text":"Cerebrospinal fluid neoplastic cells"},{"scope":"EXACT","text":"Positive CSF cytology"}]} +{"alt_ids":[],"definition":"A prenatal sonographic finding characterized by a high forehead, prominent glabella, and a broad, un-tapered nasal bridge that merges directly into the brow line. This appearance is said to resemble a Greek (Corinthian) warrior helmet because the wide, solid vertical column down the center of the face is said to resemble the fixed, protective nose guard of a Corinthian helmet.","id":"HP:6001478","name":"Greek warrior helmet sign","obsolete":false,"parents":["HP:0034245"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Somatostatinoma is a rare, functional neuroendocrine tumor (NET) that primarily arises in the pancreas and duodenum, characterized by excessive production of somatostatin.","id":"HP:6001479","name":"Somatostatinoma","obsolete":false,"parents":["HP:0100634"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A circumscribed, palpable, potentially elevated, erythematous lesion > 1 cm in diameter and localized to the scalp. Erythematous plaques exhibiting erythema, i.e., abnormal redness of the skin due to localized dilation and congestion of superficial dermal capillaries, typically as a result of inflammation, irritation, infection, or vasodilation, and usually blanching with pressure.","id":"HP:6001480","name":"Erythematous scalp plaque","obsolete":false,"parents":["HP:0025474"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal result of the hair pull test, in which the clinician selects 50 to 60 hairs and holds the bundle close to the scalp between the thumb, index finger, and long finger. The clinician then firmly pulls on the bundle using slow traction as the fingers slide down the hair shaft, avoiding a fast and forceful tug. The hair pulls are performed at the vertex, parietal areas, and the occipital area of the scalp. Next, the pulled hairs are counted. Any broken hairs that were extracted from the bundle during the pull are discarded. If more than 10 percent of the hairs in each bundle are removed from a scalp area, the hair pull test is considered positive.","id":"HP:6001481","name":"Positive hair pull test","obsolete":false,"parents":["HP:0100037"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A type of neurodevelopmental regression characterized by deterioration or disappearance of previously acquired voluntary, goal-directed hand movements, such as reaching, grasping, manipulating objects, or self-feeding.","id":"HP:6001482","name":"Loss of acquired purposeful hand skills","obsolete":false,"parents":["HP:0033044"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Loss of acquired hand function"},{"scope":"EXACT","text":"Loss of purposeful hand movements"},{"scope":"EXACT","text":"Loss of purposeful hand skills"},{"scope":"EXACT","text":"Loss of purposeful hand use"},{"scope":"EXACT","text":"Regression of purposeful hand use"}]} +{"alt_ids":[],"definition":"A type of neurodevelopmental regression characterized by deterioration or disappearance of previously acquired expressive verbal communication, including words, phrases, or sentences the individual had used meaningfully, after these skills had been acquired during development.","id":"HP:6001483","name":"Loss of acquired spoken language","obsolete":false,"parents":["HP:0034332"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Loss of expressive language"},{"scope":"EXACT","text":"Regression of spoken language"}]} +{"alt_ids":[],"definition":"Slowing of the rate of head circumference growth occurring after birth, in an individual with normal head circumference at birth, leading to progressive deviation from normal growth curves and, in many cases, acquired (postnatal, secondary) microcephaly.","id":"HP:6001484","name":"Postnatal deceleration of headgrowth","obsolete":false,"parents":["HP:0000240"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Wasting of the small muscles of the foot such as the abductor hallucis, flexor digitorum brevis, and the interossei muscles.","id":"HP:6001485","name":"Foot small muscle atrophy","obsolete":false,"parents":["HP:0008944"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormality of the gag reflex (also known as the pharyngeal reflex).","id":"HP:6001486","name":"Abnormal gag reflex","obsolete":false,"parents":["HP:0031826"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A functional abnormality of the lingual nerve, which conveys general sensation from the anterior two-thirds of the tongue and the floor of the mouth.","id":"HP:6001487","name":"Abnormal lingual nerve physiology","obsolete":false,"parents":["HP:0031911"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Any structural abnormality of the vulva, the external female genitalia comprising the mons pubis, labia, clitoris, and vaginal vestibule.","id":"HP:6001488","name":"Abnormal vulvar morphology","obsolete":false,"parents":["HP:0000055"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Abnormal vulva morphology"},{"scope":"EXACT","text":"Abnormality of the vulva"},{"scope":"EXACT","text":"Vulvar malformation"}]} +{"alt_ids":[],"definition":"Any structural anomaly of the trapezius muscle, the large superficial back muscle that resembles a trapezoid. It extends from the external protuberance of the occipital bone to the lower thoracic vertebrae and laterally to the spine of the scapula.","id":"HP:6001489","name":"Any structural anomaly of the neck region","obsolete":false,"parents":["HP:0011006"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A difference in the size, shape, or bulk of the trapezius muscles between the left and right side.","id":"HP:6001490","name":"Trapezius asymmetry","obsolete":false,"parents":["HP:0011006"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal increase in skin coloration affecting one or both axillae, resulting in the affected skin appearing darker than the surrounding skin.","id":"HP:6001491","name":"Axillary hyperpigmentation","obsolete":false,"parents":["HP:0000953"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dark axillae"},{"scope":"EXACT","text":"Darkened underarms"},{"scope":"EXACT","text":"Underarm hyperpigmentation"}]} +{"alt_ids":[],"definition":"Ectopic or heterotopic mature osseous tissue localized within the fibrous layers or structural boundaries of the tympanic membrane, independent of normal middle ear ossicular anatomy.","id":"HP:6001492","name":"Aberrant tympanic bony island","obsolete":false,"parents":["HP:0040090"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Bony island of the tympanic membrane"}]} +{"alt_ids":[],"definition":"A benign bony outgrowth projecting from the outer surface of one or more of the cranial bones.","id":"HP:6001493","name":"Cranial exostosis","obsolete":false,"parents":["HP:0100777"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Cranial exostoses"},{"scope":"EXACT","text":"Skull exostosis"}]} +{"alt_ids":[],"definition":"A cutaneous indentation (dimple) located in the cubital fossa, which is a triangular depression located on the anterior aspect of the elbow.","id":"HP:6001494","name":"Cubital dimple","obsolete":false,"parents":["HP:0010781"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Antecubital dimple"},{"scope":"EXACT","text":"Cubital pit"}]} +{"alt_ids":[],"definition":"Reduced visibility or partial loss of the distal interphalangeal flexion crease of the fifth finger, without complete absence.","id":"HP:6001495","name":"Distal interphalangeal crease effacement of the 5th finger","obsolete":false,"parents":["HP:0001032"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Faded 5th finger DIP crease"}]} +{"alt_ids":[],"definition":"A congenital partial obstruction of the duodenal lumen by a membrane or obstructing septum (web) formed from mucosa and submucosa.","id":"HP:6001496","name":"Duodenal web","obsolete":false,"parents":["HP:0002246"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Duodenal diaphragm"},{"scope":"EXACT","text":"Duodenal membrane"}]} +{"alt_ids":[],"definition":"A morphological abnormality in which the nipple is positioned off-center relative to the areola.","id":"HP:6001497","name":"Eccentric nipple","obsolete":false,"parents":["HP:0004404"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Off-center nipple"}]} +{"alt_ids":[],"definition":"The size (cross-sectional area) of the median nerve is above the upper limit of normal.. This feature may be appreciated by palpation. Ultrasound examination can be used to quantify the cross-sectional area of the median nerve.","id":"HP:6001498","name":"Enlarged median nerve","obsolete":false,"parents":["HP:0012645"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Thickened median nerve"}]} +{"alt_ids":[],"definition":"A difference in shape, size, or position between the left and right eyebrows.","id":"HP:6001499","name":"Eyebrow asymmetry","obsolete":false,"parents":["HP:0000534"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Asymmetric eyebrows"}]} +{"alt_ids":[],"definition":"Abnormally slow progression or arrest of the normal stages of labor.","id":"HP:6001500","name":"Labor dystocia","obsolete":false,"parents":["HP:0001787"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Failure to progress in labor"},{"scope":"EXACT","text":"Protracted labor"}]} +{"alt_ids":[],"definition":"A congenital cystic malformation derived from the embryonic foregut and attached to or arising from the upper gastrointestinal tract (esophagus, stomach, or proximal duodenum).","id":"HP:6001501","name":"Foregut duplication cyst","obsolete":false,"parents":["HP:0011140"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Foregut duplication"}]} +{"alt_ids":[],"definition":"Increased pigmentation localized to the flexion creases of the palm.","id":"HP:6001502","name":"Hyperpigmented palmar creases","obsolete":false,"parents":["HP:0010490"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dark palmar creases"},{"scope":"EXACT","text":"Hyperpigmentation of palmar creases"}]} +{"alt_ids":[],"definition":"Congenital underdevelopment of the clivus, the bony surface of the basisphenoid and basiocciput that forms part of the skull base.","id":"HP:6001503","name":"Hypoplastic clivus","obsolete":false,"parents":["HP:0010558"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Clivus hypoplasia"}]} +{"alt_ids":[],"definition":"An abnormal increase in adipose tissue specifically localized to the mammary region.","id":"HP:6001504","name":"Increased mammary adipose tissue","obsolete":false,"parents":["HP:0009126","HP:0031093"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Increased breast adipose tissue"},{"scope":"EXACT","text":"Mammary fat excess"}]} +{"alt_ids":[],"definition":"Increased soft tissue bulk of the palm, giving a fleshy or full appearance.","id":"HP:6001505","name":"Increased palmar soft tissue","obsolete":false,"parents":["HP:0100871"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Fleshy palm"}]} +{"alt_ids":[],"definition":"Reduced visibility or partial loss of the interphalangeal flexion crease of the thumb, without complete absence.","id":"HP:6001506","name":"Interphalangeal crease effacement of the thumb","obsolete":false,"parents":["HP:0006143"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Effacement of the interphalangeal crease of the thumb"}]} +{"alt_ids":[],"definition":"An anomaly of the frontal hairline in which the border between hair-bearing and non-hair-bearing forehead skin follows an uneven, jagged contour rather than a smooth curve.","id":"HP:6001507","name":"Irregular anterior hairline","obsolete":false,"parents":["HP:0000599"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Uneven frontal hairline"}]} +{"alt_ids":[],"definition":"An abnormal position of the uvula, which normall is located in the midline, to either the left or the right.","id":"HP:6001508","name":"Lateral deviation of the uvula","obsolete":false,"parents":["HP:0000172"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Deviated uvula"}]} +{"alt_ids":[],"definition":"Reduced ability to flex the metacarpophalangeal joint of the second finger.","id":"HP:6001509","name":"Limited metacarpophalangeal flexion of 2nd finger","obsolete":false,"parents":["HP:0006135"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced ability to flex the metacarpophalangeal joint of the third finger.","id":"HP:6001510","name":"Limited metacarpophalangeal flexion of 3rd finger","obsolete":false,"parents":["HP:0006135"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced ability to flex the metacarpophalangeal joint of the fourth finger.","id":"HP:6001511","name":"Limited metacarpophalangeal flexion of 4th finger","obsolete":false,"parents":["HP:0006135"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced ability to flex the metacarpophalangeal joint of the fifth finger.","id":"HP:6001512","name":"Limited metacarpophalangeal flexion of 5th finger","obsolete":false,"parents":["HP:0006135"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced length of the manubrium (handle) of the malleus, the most lateral of the auditory ossicles.","id":"HP:6001513","name":"Short manubrium of malleus","obsolete":false,"parents":["HP:0011454"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hypoplastic malleus manubrium"},{"scope":"EXACT","text":"Short malleus handle"}]} +{"alt_ids":[],"definition":"The presence of one or more additional flexion creases on the thumb beyond the typical number.","id":"HP:6001514","name":"Supernumerary thumb flexion crease","obsolete":false,"parents":["HP:6000109"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Extra thumb flexion crease"}]} +{"alt_ids":[],"definition":"A horizontal transverse crease over the distal phalanx or fingertip pulp. This feature may be associated with prominent fingertip pads (which are also known as persistent fetal finger pads), and if so, the crease is located distal to the fingertip pad.","id":"HP:6001515","name":"Transverse distal phalangeal crease","obsolete":false,"parents":["HP:0001211"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal reduction in the ability to produce first-phase insulin secretion, which is defined as the initial burst of insulin released in the first 5 to 10 minutes after the beta cell is exposed to a rapid increase in glucose (or other secretagogues).","id":"HP:6001516","name":"Impaired first-phase insulin secretion","obsolete":false,"parents":["HP:0011014"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced capacity of the stomach, particularly the fundus, to relax and expand in response to a meal.","id":"HP:6001517","name":"Impaired gastric accommodation","obsolete":false,"parents":["HP:0030895"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormally prominent soft tissue pad overlying the head of a metatarsal bone on the plantar surface of the foot.","id":"HP:6001518","name":"Prominent plantar fat pad of forefoot","obsolete":false,"parents":["HP:0100872"],"replaced_by":[],"synonyms":[{"scope":"NARROW","text":"Prominent metatarsal fat pad"},{"scope":"NARROW","text":"Prominent toe base pad"}]} +{"alt_ids":[],"definition":"Increased pigmentation of the skin in the region surrounding the nose.","id":"HP:6001519","name":"Perinasal hyperpigmentation","obsolete":false,"parents":["HP:0000953"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperpigmentation around the nose"},{"scope":"EXACT","text":"Perinasal skin darkening"}]} +{"alt_ids":[],"definition":"Increased pigmentation of the skin in the region surrounding the umbilicus (belly button).","id":"HP:6001520","name":"Periumbilical hyperpigmentation","obsolete":false,"parents":["HP:0000953"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Umbilical hyperpigmentation"}]} +{"alt_ids":[],"definition":"Increased pigmentation of the skin immediately surrounding the fingernails or toenails.","id":"HP:6001521","name":"Periungual hyperpigmentation","obsolete":false,"parents":["HP:0000953"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperpigmentation around the nails"},{"scope":"EXACT","text":"Periungual darkening"}]} +{"alt_ids":[],"definition":"The width of the gap between the second and third toe is increased. This term should be used to describe a gap with normal width of the toes themselves (rather than to describe a situation where the toes are thin or narrow).","id":"HP:6001522","name":"Wide space between 2nd and 3rd toes","obsolete":false,"parents":["HP:0008094"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Diastasis between the second and third toes"},{"scope":"EXACT","text":"Increased 2nd-3rd toe gap"}]} +{"alt_ids":[],"definition":"A congenital vertebral formation anomaly in which a sacral vertebral body is incompletely formed on one side, resulting in a wedge-shaped or half-vertebra morphology within the sacrum.","id":"HP:6001523","name":"Sacral hemivertebra","obsolete":false,"parents":["HP:0002937"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An impairment of the normal tissue-repair process following injury to the oral mucosa, resulting in delayed or incomplete wound closure.","id":"HP:6001524","name":"Poor oral mucosal wound healing","obsolete":false,"parents":["HP:0031815"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Reduced ability to understand speech in the presence of background noise.","id":"HP:6001525","name":"Impaired speech-in-noise perception","obsolete":false,"parents":["HP:0001963"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced speech-in-noise reception"}]} +{"alt_ids":[],"definition":"Spasmodic contractions of the diaphragm and abdominal muscles resembling vomiting but without expulsion of gastric contents.","id":"HP:6001526","name":"Retching","obsolete":false,"parents":["HP:0002017"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Complete congenital absence of the thenar muscle.","id":"HP:6001527","name":"Thenar muscle aplasia","obsolete":false,"parents":["HP:0001227"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased pigmentation of the skin of the toes.","id":"HP:6001528","name":"Toe hyperpigmentation","obsolete":false,"parents":["HP:0000953"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Increased pigmentation, either focal or generalized, of the surface of the tongue.","id":"HP:6001529","name":"Tongue hyperpigmentation","obsolete":false,"parents":["HP:0010284"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Hyperpigmentation of the tongue"},{"scope":"EXACT","text":"Lingual hyperpigmentation"}]} +{"alt_ids":[],"definition":"An abnormal orientation of the vertebral pedicle. The vertebral arch is formed by pedicles and laminae. Two pedicles extend from the sides of the vertebral body to join the body to the arch. An overfaced vertebral pedicle is angled more medially than normal, which implies that the the lateral border of the vertebrae appears outside the lateral edge of the pedicles on the frontal view on spine radiography.","id":"HP:6001530","name":"Overfaced vertebral pedicle","obsolete":false,"parents":["HP:0030277"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Overfaced vertebral pedicles"}]} +{"alt_ids":[],"definition":"The concentration of pepsinogen I in the blood circulation is below the lower limit of normal.","id":"HP:6001531","name":"Decreased circulating pepsinogen I concentration","obsolete":false,"parents":["HP:0010876"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"An abnormal position of the radial artery, displaced from its normal anatomical location.","id":"HP:6001532","name":"Displaced radial artery","obsolete":false,"parents":["HP:0031640"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A distortion in the perception, evaluation, or experience of one's own body, resulting in a body image that is inaccurate, distorted, or excessively influenced by body shape or weight.","id":"HP:6001533","name":"Abnormal body image","obsolete":false,"parents":["HP:5200242"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Body image disturbance"},{"scope":"EXACT","text":"Distorted body image"},{"scope":"EXACT","text":"Disturbed body image"}]} +{"alt_ids":[],"definition":"A reduced range of motion of thumb abduction (movement of the thumb away from the plane of the palm), as distinct from a fixed adduction contracture or a resting adducted-thumb position.","id":"HP:6001534","name":"Limited thumb abduction","obsolete":false,"parents":["HP:0001376"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Reduced thumb abduction"}]} +{"alt_ids":[],"definition":"Increased fragility of the oral mucous membranes, such that the tissue tears or bleeds easily with minimal mechanical trauma.","id":"HP:6001535","name":"Oral mucosal fragility","obsolete":false,"parents":["HP:0011830"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Friable oral mucosa"}]} +{"alt_ids":[],"definition":"The presence of an antibody in the blood circulation that is directed against a component of the complement system.","id":"HP:6001536","name":"Anti-complement component antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of an antibody in the blood circulation that is directed against factor B, a component of the alternative C3 convertase.","id":"HP:6001537","name":"Anti-factor B antibody positivity","obsolete":false,"parents":["HP:6001536"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Anti-FB antibody positivity"}]} +{"alt_ids":[],"definition":"The presence of an antibody in the blood circulation that is directed against ribosomal P protein.","id":"HP:6001538","name":"Anti-ribosomal P protein antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against DFS70.","id":"HP:6001539","name":"Anti-DFS70 antibody positivity","obsolete":false,"parents":["HP:0030057"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Ossification of the patella is detected earlier than the age range typical for the general population.","id":"HP:6001540","name":"Premature patella ossification","obsolete":false,"parents":["HP:0003045"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A red, warm and tender rash, usually involving the distal part of the shin, dorsum of the foot or ankle, which typically fades, within 24 to 72 hours. A typical lesion of erysipeloid erythema is comprised of an erythematous plaque with well-defined borders located on the lower extremity. Histologically one may expect a perivascular and interstitial inflammatory infiltrate containing neutrophils and nuclear dust.","id":"HP:6001541","name":"Erysipelas-like erythema","obsolete":false,"parents":["HP:0010783"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Erysipeloid erythema"},{"scope":"EXACT","text":"Pseudoerysipelas"}]} +{"alt_ids":[],"definition":"The amount of biotin in the urine, normalized for urine concentration, is above the upper limit of normal.","id":"HP:6001542","name":"Elevated urinary biotin level","obsolete":false,"parents":["HP:6000531"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Biotin high in urine"}]} +{"alt_ids":[],"definition":"The second-wind phenomenon occurs approximately 10 minutes after the onset of exertion, denotes a sudden and significant improvement in aerobic exercise tolerance after a brief rest period, following the development of muscle stiffness and myalgias, enabling the person to continue physical activity with a resolution of symptoms triggered at the start of exertion.","id":"HP:6001543","name":"Second-wind phenomenon","obsolete":false,"parents":["HP:0011804"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Yellow plaques, said to resemble porcelain and located in the small intestinal serosa.","id":"HP:6001544","name":"Small intestinal porcelain-white serosal plaque","obsolete":false,"parents":["HP:0025129"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"A precancerous lesion in which hepatocytes show morphologic alterations and, depending on the degree of atypia.","id":"HP:6001545","name":"Dysplastic Liver Nodule","obsolete":false,"parents":["HP:0002896"],"replaced_by":[],"synonyms":[{"scope":"EXACT","text":"Dysplastic hepatic nodule"}]} +{"alt_ids":[],"definition":"Self-harm can be broadly defined as self-injurious behaviour irrespective of motive; self-harm is a broad term that can include non-suicidal self-injury (self-injurious behaviour without intent to die). Self-harm ideation therefore refers to thoughts of self-harm without self-injurious behaviour.","id":"HP:6001546","name":"Self-harm ideation","obsolete":false,"parents":["HP:0025785"],"replaced_by":[],"synonyms":[]} +{"alt_ids":[],"definition":"Underdevelopment of the bony eye socket.","id":"HP:6001547","name":"Orbital hypoplasia","obsolete":false,"parents":["HP:3000030"],"replaced_by":[],"synonyms":[]} diff --git a/data/hpo/snapshot.json b/data/hpo/snapshot.json new file mode 100644 index 0000000000000000000000000000000000000000..12461bf2ac231d54b2b36ccc0dab5ff12de52d5a --- /dev/null +++ b/data/hpo/snapshot.json @@ -0,0 +1,75 @@ +{ + "dataset_id": "varianthound-hpo", + "evaluation_scope": "current-snapshot-only", + "files": [ + { + "bytes": 7374849, + "path": "ontology_terms.jsonl", + "sha256": "52563f3a835f6d66ea085811966e4bc784b05327455969daa404c8aee42477cc" + }, + { + "bytes": 50268907, + "path": "gene_phenotypes.jsonl", + "sha256": 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+{"comment":"","description":"","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":119863935,"omia_gene_id":398298769,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398298769","source_release":"retrieved-2026-09-12","symbol":"NR5A1","taxon_id":9615} +{"comment":"","description":"","gene_type":"ncRNA","mapping_status":"unresolved","ncbi_gene_id":null,"omia_gene_id":398298776,"rank_eligible":false,"source_id":"omia","source_record_id":"OMIA:Gene:398298776","source_release":"retrieved-2026-09-12","symbol":"IGF1-AS (LOC111090066)","taxon_id":9615} +{"comment":"","description":"","gene_type":"protein-coding","mapping_status":"unresolved","ncbi_gene_id":null,"omia_gene_id":398298783,"rank_eligible":false,"source_id":"omia","source_record_id":"OMIA:Gene:398298783","source_release":"retrieved-2026-09-12","symbol":"FGF4 retrogene on CFA12","taxon_id":9615} +{"comment":"","description":"","gene_type":"pseudo","mapping_status":"unresolved","ncbi_gene_id":null,"omia_gene_id":398298784,"rank_eligible":false,"source_id":"omia","source_record_id":"OMIA:Gene:398298784","source_release":"retrieved-2026-09-12","symbol":"FGF4 retrogene CFA18","taxon_id":9615} +{"comment":"","description":"","gene_type":"pseudo","mapping_status":"unresolved","ncbi_gene_id":null,"omia_gene_id":398298785,"rank_eligible":false,"source_id":"omia","source_record_id":"OMIA:Gene:398298785","source_release":"retrieved-2026-09-12","symbol":"FGF4 retrogene CFA18","taxon_id":9615} +{"comment":"","description":"TRANSFER RNA, MITOCHONDRIAL, TYROSINE","gene_type":"tRNA","mapping_status":"unresolved","ncbi_gene_id":null,"omia_gene_id":398298798,"rank_eligible":false,"source_id":"omia","source_record_id":"OMIA:Gene:398298798","source_release":"retrieved-2026-09-12","symbol":"MTTY","taxon_id":9615} +{"comment":"","description":"collagen type XI alpha 1 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+{"comment":"","description":"NADH:ubiquinone oxidoreductase core subunit S7","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":476754,"omia_gene_id":398298884,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398298884","source_release":"retrieved-2026-09-12","symbol":"NDUFS7","taxon_id":9615} +{"comment":"","description":"DnaJ heat shock protein family (Hsp40) member C21","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":479364,"omia_gene_id":398298888,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398298888","source_release":"retrieved-2026-09-12","symbol":"DNAJC21","taxon_id":9615} +{"comment":"","description":"caspase recruitment domain family member 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+{"comment":"","description":"RANBP2-type and C3HC4-type zinc finger containing 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":485818,"omia_gene_id":398299046,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299046","source_release":"retrieved-2026-09-12","symbol":"RBCK1","taxon_id":9615} +{"comment":"","description":"arachidonate lipoxygenase 3","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":489487,"omia_gene_id":398299051,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299051","source_release":"retrieved-2026-09-12","symbol":"ALOXE3","taxon_id":9615} +{"comment":"","description":"spermatogenesis associated 7","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":480411,"omia_gene_id":398299074,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299074","source_release":"retrieved-2026-09-12","symbol":"SPATA7","taxon_id":9615} +{"comment":"","description":"gap junction protein beta 6","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":100688824,"omia_gene_id":398299086,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299086","source_release":"retrieved-2026-09-12","symbol":"GJB6","taxon_id":9615} +{"comment":"","description":"Fas cell surface death receptor","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":486469,"omia_gene_id":398299090,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299090","source_release":"retrieved-2026-09-12","symbol":"FAS","taxon_id":9615} +{"comment":"","description":"calcium voltage-gated channel subunit alpha1 F","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":480915,"omia_gene_id":398299092,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299092","source_release":"retrieved-2026-09-12","symbol":"CACNA1F","taxon_id":9615} +{"comment":"Other names for this gene:\nC27H12orf35, KIAA1551","description":"retroelement silencing factor 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":477650,"omia_gene_id":398299100,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299100","source_release":"retrieved-2026-09-12","symbol":"RESF1","taxon_id":9615} +{"comment":"","description":"glycine amidinotransferase","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":414733,"omia_gene_id":398299104,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299104","source_release":"retrieved-2026-09-12","symbol":"GATM","taxon_id":9615} +{"comment":"","description":"ER membrane protein complex subunit 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":612432,"omia_gene_id":398299106,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299106","source_release":"retrieved-2026-09-12","symbol":"EMC1","taxon_id":9615} +{"comment":"","description":"senataxin","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":480691,"omia_gene_id":398299107,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299107","source_release":"retrieved-2026-09-12","symbol":"SETX","taxon_id":9615} +{"comment":"","description":"thyroglobulin","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":482047,"omia_gene_id":398299108,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299108","source_release":"retrieved-2026-09-12","symbol":"TG","taxon_id":9615} +{"comment":"","description":"SUV39H1 histone lysine methyltransferase","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":491868,"omia_gene_id":398299109,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299109","source_release":"retrieved-2026-09-12","symbol":"SUV39H1","taxon_id":9615} +{"comment":"","description":"coagulation factor XIII A chain","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":478711,"omia_gene_id":398299111,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299111","source_release":"retrieved-2026-09-12","symbol":"F13A1","taxon_id":9615} +{"comment":"Other names for this gene:\nLCN1","description":"odorant binding protein 2B","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403830,"omia_gene_id":398299134,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299134","source_release":"retrieved-2026-09-12","symbol":"OBP2B","taxon_id":9615} +{"comment":"","description":"troponin I3, cardiac type","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403566,"omia_gene_id":398299135,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299135","source_release":"retrieved-2026-09-12","symbol":"TNNI3","taxon_id":9615} +{"comment":"","description":"agrin","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":479574,"omia_gene_id":398299137,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299137","source_release":"retrieved-2026-09-12","symbol":"AGRN","taxon_id":9615} +{"comment":"","description":"sperm associated antigen 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":607063,"omia_gene_id":398299138,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299138","source_release":"retrieved-2026-09-12","symbol":"SPAG1","taxon_id":9615} diff --git a/data/omia/phenes.jsonl b/data/omia/phenes.jsonl new file mode 100644 index 0000000000000000000000000000000000000000..92f66277712ca1ce2d11ee875f87d9fe4943cc90 --- /dev/null +++ b/data/omia/phenes.jsonl @@ -0,0 +1,1019 @@ +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hepatitis, chronic active","inheritance":{"code":"X","name":"X-linked"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1093,"omia_phene_id":1,"omia_record_id":"OMIA:001093-9615","publication_ids":[51078,55364,55365,55366,57356,112661,129858],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1","source_release":"retrieved-2026-09-12","summary":"Chronic active hepatitis is one of the common causes of hepatic encephalopathy. In reviewing the published literature on dogs, Rothuizen et al. (1993) concluded that chronic active hepatitis is a \"sex-linked disorder of females\", most likely due to an immune defect.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hepatitis, neonatal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1094,"omia_phene_id":2,"omia_record_id":"OMIA:001094-9615","publication_ids":[51078,55367,55368],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2","source_release":"retrieved-2026-09-12","summary":"This disorder is one of the common causes of hepatic encephalopathy.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Polymicrogyria and asymmetrical ventricular dilation","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1098,"omia_phene_id":6,"omia_record_id":"OMIA:001098-9615","publication_ids":[49069],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6","source_release":"retrieved-2026-09-12","summary":"This disorder was first reported in dogs by van Winkle et al. (1994). Its major clinical manifestation is blindness.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hernia, perineal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1103,"omia_phene_id":13,"omia_record_id":"OMIA:001103-9615","publication_ids":[54989,59405,81557,82465,85451,107496,107608],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:13","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Thrombocytopenic purpura, autoimmune","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1104,"omia_phene_id":14,"omia_record_id":"OMIA:001104-9615","publication_ids":[9784,55221,59912,67433,68426,70172,99604,115107],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:14","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Boston Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200204"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Plott Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201023"}],"characterised":true,"characterised_year":1992,"clinical_features":"","defect":true,"group_name":"Mucopolysaccharidosis I","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Mucopolysaccharidosis I","omia_group_id":664,"omia_phene_id":16,"omia_record_id":"OMIA:000664-9615","publication_ids":[7430,12596,21477,28080,33935,54990,66337,68296,69011,72198,82562,85866,85931,102476,107223,109071,109075,109077,109093,109095,109096,109288,109348,110326,110328,110329,110330,110331,113607,113629,114199,116182,116343,116395,116396,116397,116797,117690,120515,120540,120621,120693,120896,122221,122335,122727,124087,124090,126954,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:16","source_release":"retrieved-2026-09-12","summary":"The mucopolysaccharidoses (MPS) are a group of hereditary diseases characterized by defective metabolism of glycosaminoglycans (mucopolysaccharides), which accumulate in lysosomes in various tissues.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Mycosis fungoides","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1109,"omia_phene_id":24,"omia_record_id":"OMIA:001109-9615","publication_ids":[56686,67813],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:24","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Otitis externa, predisposition to","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1110,"omia_phene_id":25,"omia_record_id":"OMIA:001110-9615","publication_ids":[56284,66265,66700,76276,80412,83855,84927,88631,90669,92007,99097,100958,101521,101583,101869,102290,102786,106447,107280,117525,117677,119249,121712,122419,124564,126525,129522,129985,133323,133535],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:25","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Brittany Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200239"}],"characterised":true,"characterised_year":1998,"clinical_features":"","defect":true,"group_name":"C3 deficiency","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013417","iri":"http://purl.obolibrary.org/obo/MONDO_0013417","label":"complement component 3 deficiency"}],"name":"","omia_group_id":155,"omia_phene_id":31,"omia_record_id":"OMIA:000155-9615","publication_ids":[21671,56752,80261,114936,114937,114938,114940,114941,114942,114943,114944,114945,114946,114947,114948,114949,114950,114951,114952],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:31","source_release":"retrieved-2026-09-12","summary":"Deficiency of the third component of complement results in susceptibility to a range of bacterial infections and to type 1 membranoproliferative glomerulonephritis. ","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dachshund, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200408"},{"name":"Pastor Garafiano, Spain (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0008023"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ehlers-Danlos syndrome, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":327,"omia_phene_id":38,"omia_record_id":"OMIA:000327-9615","publication_ids":[7310,13035,70869,83090,105184,115864,115865,115866,115867,115868,116214,116602,116605,116606,116607,122707,122808,125684,132256],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:38","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Goitre, familial","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010135","iri":"http://purl.obolibrary.org/obo/MONDO_0010135","label":"thyroid dyshormonogenesis 3"}],"name":"","omia_group_id":424,"omia_phene_id":44,"omia_record_id":"OMIA:000424-9615","publication_ids":[13269,112348],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:44","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"Navasota (mixed breed) (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200929"},{"name":"Samoyed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201174"}],"characterised":true,"characterised_year":1994,"clinical_features":"Affected males exhibit proteinuria and develop rapidly progressive renal failure, which is usually fatal before 1 year of age in the Samoyed and 18 months of age in the Navasota mixed breed model. Heterozygous female Samoyeds may present with a wide range of renal function, from normal to initially having proteinuria and occasionally microscopic hematuria, but most were healthy until 5 years of age (Baumal et al., 1991). With age, approximately 31% of carrier female Samoyeds developed mild renal disease, and 38% progressed to end-stage renal disease. Possible clinical features may also include hearing loss (Harvey et al., 2001) and and anterior lenticonus (Kashtan, 2002). [IT thanks DVM student Muhammad Elsayed for contributions to this entry in April 2022]","defect":true,"group_name":"Nephritis, X-linked","inheritance":{"code":"X","name":"X-linked"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010520","iri":"http://purl.obolibrary.org/obo/MONDO_0010520","label":"X-linked Alport syndrome"}],"name":"Alport syndrome, X-linked hereditary nephropathy, glomerulonephritis, X- linked nephritis","omia_group_id":1112,"omia_phene_id":50,"omia_record_id":"OMIA:001112-9615","publication_ids":[5363,25155,26389,34947,47900,67685,74329,78996,87926,98112,105714,106098,107036,107447,107596,109497,109498,110460,114034,117533,117854,117855,117856,117857,117858,117859,117860,121581,123387,123388,126130,129207,130415],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:50","source_release":"retrieved-2026-09-12","summary":"X-linked nephritis is caused by mutations in the alpha 5 chain of collagen type IV (COL4A5), a key structural component of the glomerular basement membrane. Affected males have severely reduced COL4A5 levels and early-onset renal failure. For other types of hereditary nephritis see also: 'OMIA:002618-9615 Nephropathy, COL4A4 related '; 'OMIA:001114-9615 Nephritis, autosomal dominant'; OMIA:000708-9615: Nephritis' and 'OMIA:000413-9615 Glomerulonephritis'.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200255"},{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Nephritis, autosomal dominant","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"similar to Alport syndrome in humans","omia_group_id":1114,"omia_phene_id":52,"omia_record_id":"OMIA:001114-9615","publication_ids":[12645,25464,56579,103091,109499,109500,109501,121581,123924,125201],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:52","source_release":"retrieved-2026-09-12","summary":"The first report of this disorder in dogs was in Bull Terriers, by Hood et al. (1990). The same disorder in Dalmations was reported by Hood et al. (2002) [FN 13 Jan 2003]. For other types of hereditary nephritis see also: 'OMIA001359-9615 Nephritis, autosomal recessive'; 'OMIA001112-9615 Nephritis, x-linked' ;OMIA000708-9615 Nephritis' and 'OMIA 000413-9615 Glomerulonephritis'.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Airedale Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200008"},{"name":"Alaskan Malamute (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200017"},{"name":"American Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200038"},{"name":"American Pit Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200054"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Bichon Frise (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200163"},{"name":"Black and Tan Coonhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200168"},{"name":"Cairn Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200267"},{"name":"Chow Chow (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200361"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"German Wirehaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200602"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Hovawart (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200674"},{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Lhasa Apso (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200824"},{"name":"Maltese Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200859"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Newfoundland (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200938"},{"name":"Old English Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200969"},{"name":"Rhodesian Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201135"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Saint Bernard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201160"},{"name":"Scottish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201198"},{"name":"Sealyham Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201200"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"},{"name":"Wire Fox Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201424"}],"characterised":true,"characterised_year":1989,"clinical_features":"Haemophilia B is characterised by frequent and spontaneous bleeding into joints, muscles, and body cavities, such as the chest and abdomen, due to a deficiency in factor IX (FIX, F9) (Nichols et al., 2020). This can eventually lead to arthropathy associated with progressive cartilage damage, chronic pain, lameness, and eventually joint destruction (Nichols et al., 2020). Prolonged bleeding from minor wounds and haemorrhagic complications post-surgery may also be observed (Nichols et al., 2010). Disease can be classified into mild, moderate, or severe based on plasma FIX levels with 60-70% of patients having a moderate or severe form (Nichols et al., 2020). Animals with the severe form (<1% coagulation activity) can have bleeding episodes that are life threatening. Most carriers have a reduced FIX activity of 40-60% but do not exhibit spontaneous bleeding (Nakata et al., 2006). IT thanks DVM student Ruby Xu, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Haemophilia B","inheritance":{"code":"XLR","name":"X-linked recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010604","iri":"http://purl.obolibrary.org/obo/MONDO_0010604","label":"hemophilia B"}],"name":"","omia_group_id":438,"omia_phene_id":54,"omia_record_id":"OMIA:000438-9615","publication_ids":[3205,4700,8531,11000,14762,23787,42205,43824,47004,47135,59767,65427,66019,66190,66337,70177,70722,74722,76880,77998,78653,79464,84838,84925,85251,88093,88116,88136,92765,93112,93540,94047,97992,100401,106552,107034,107278,108961,109456,111196,112214,112273,112928,113173,113174,113178,113179,113181,113183,113184,114816,114827,114828,114829,114830,114831,114832,114833,114834,114835,114836,114839,114840,115487,115841,115937,116385,116388,116389,116390,116391,116392,117898,118487,118722,120515,120860,122436,122692,125206,125207,125208,126979,127699,130426,132363],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:54","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Belgian Shepherd Dog, Malinois (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200147"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Irish Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200702"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Old English Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200969"},{"name":"Poodle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201048"},{"name":"Rhodesian Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201135"},{"name":"Siberian Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201233"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":true,"characterised_year":2002,"clinical_features":"Dogs with haemophilia A present with spontaneous bleeding, including bleeding in soft tissue, joints (causing lameness) and body cavities. Excessive bleeding is reported after tooth extraction or after deciduous teeth are lost and after surgery (Mischke et al., 1996; Nichols et al., 2010). Coagulation analysis will show a markedly prolonged activated partial thromboplastin time (APTT) with a low factor VIII activity (Gavazza et al., 2014; Nishitani and Kitoh, 2021). Severity of clinical presentation varies between breeds. IT thanks DVM student Yi Fei Choong, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Haemophilia A","inheritance":{"code":"XLR","name":"X-linked recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010602","iri":"http://purl.obolibrary.org/obo/MONDO_0010602","label":"hemophilia A"}],"name":"classical haemophilia/hemophilia","omia_group_id":437,"omia_phene_id":56,"omia_record_id":"OMIA:000437-9615","publication_ids":[4700,7045,7147,7254,7433,7665,8646,9097,9478,9827,9922,12746,14720,15142,20043,20044,23139,23923,24242,24445,25661,26919,28395,34382,34404,37498,38355,38845,39903,39910,40815,43824,46883,56769,62000,62128,64227,69301,69805,70928,71273,73360,75785,77385,78306,79924,80692,84958,85251,86688,87073,87312,87753,92293,92765,93540,94963,100488,102020,102434,106508,107181,107424,108580,109456,111186,111192,111196,112210,112211,112212,112213,112214,112215,112216,112217,112218,112219,112272,112273,112928,113175,113179,113180,113181,113184,114783,114809,114810,114811,114813,114814,114815,114816,114817,114818,114819,114820,114821,114822,114823,114824,114825,114826,114828,114834,114840,114842,115166,115642,115683,116007,116349,116385,116386,116391,116392,116412,117206,117243,117695,118115,118664,120515,121190,122436,122514,124603,124721,124804,125397,126460,126494,126979,126998,127065,128274,129981,132339,132363,132559,132988,133459],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:56","source_release":"retrieved-2026-09-12","summary":"The historical section of this entry is based on information in the review by Lozier and Nichols (2013). Some missing references were also gleaned from this review. FN is grateful to the authors for their very useful review.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Achondroplasia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":4,"omia_phene_id":67,"omia_record_id":"OMIA:000004-9615","publication_ids":[93788,109604],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:67","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Paresis, posterior","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":11,"omia_phene_id":76,"omia_record_id":"OMIA:000011-9615","publication_ids":[51179],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:76","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Adrenal cortical atrophy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":16,"omia_phene_id":82,"omia_record_id":"OMIA:000016-9615","publication_ids":[110769],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:82","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Afibrinogenaemia or hypofibrinogenaemia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":18,"omia_phene_id":83,"omia_record_id":"OMIA:000018-9615","publication_ids":[110740,113184,117633,117634,121932,121933],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:83","source_release":"retrieved-2026-09-12","summary":"see also OMIA:002382-9615 : Afibrinogenaemia, FGA-related","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Alloxan-diabetes","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":29,"omia_phene_id":97,"omia_record_id":"OMIA:000029-9615","publication_ids":[42067,58501,68048],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:97","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Pomeranian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201043"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Alopecia, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":30,"omia_phene_id":99,"omia_record_id":"OMIA:000030-9615","publication_ids":[12076,22131,46824,60420,60551,63434,69902,74481,82938,89699,90673,94681,102537,104686,107002,107003,107289,107308,108325,108591,108592,110009,114628,116819,116892,117292,117864,117865,117866,117867,117868,118169,118170,118171,118882,123572,123585,125600,126553,127829,128453,129172,132416,132527,133209],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:99","source_release":"retrieved-2026-09-12","summary":"includes references relating to alopecia X, hair cycle arrest","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Staffordshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200055"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Belgian Shepherd Dog, Malinois (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200147"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Chow Chow (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200361"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"German Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201454"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Gordon Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200613"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"Italian Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200713"},{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Large Munsterlander (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200816"},{"name":"Miniature Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200893"},{"name":"Mudi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200921"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"},{"name":"Pekingese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200994"},{"name":"Puli (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201102"},{"name":"Rhodesian Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201135"},{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"},{"name":"Sloughi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201242"},{"name":"Thai Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201348"},{"name":"Tibetan Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201351"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":true,"characterised_year":2007,"clinical_features":"In dogs, MLPH-related color dilution predisposes to a skin disease termed color dilution alopecia (CDA). The health problems appear to be specific to dogs. In other mammalian species, loss-of-function of the MLPH gene exclusively results in coat color dilution, without any known health problems (e.g. cats, mice, rats). A fraction of the dogs with MLPH-related dilute coat color develop hair loss or alopecia (Welle et al., 2009). This disease is termed color dilution alopecia (CDA). The CDA phenotype is highly variable in severity. Mildly affected dogs will show some hair loss, but are otherwise healthy and do not require therapy. In more severe forms, the hair loss can be extensive and a generalized inflammation of the skin may develop (folliculitis). This causes puritus and/or pain to the dogs and will require treatment with antibiotics. The skin infections in severely affected dogs will be recurring and require life-long treament. The pigment dilution leads to large melanin aggregates, the so-called macromelanosomes. Incorporation of large macromelanosomes into growing hair shafts reduces their mechanical stability and makes them susceptible to hair shaft breaks, which manifest as clinically visible hypotrichosis or alopecia. The proximal parts of broken hair shafts may irritate the infundibulum and this may cause the folliculitis. There are clear breed differences in the susceptibility to CDA. In some breeds, dilute-coloured dogs rarely or never develop CDA (e.g. Weimaraners). In other breeds, most or even all dilute-coloured dogs will develop CDA. It is therefore not recommended to introgress dilute alleles into new breeds. A deterrent example are the Labrador Retrievers with dilute coat colors (silver, charcoal, champagne) that were bred by introgression of Weimaraners into Labrador Retrievers. While the dilute Weimaraners are rarely or never affected with CDA, dilute colored Labrador Retrievers are very prone to develop a severe form of CDA. In dilute-colored dogs with white spotting, only the pigmented skin areas will be affected by CDA, while the unpigmented skin and hair remains normal. This phenotype has occasionally been termed black hair follicular dysplasia (BHFD), e.g. in Large Münsterlanders (von Bomhard et al., 2006). It is suggested to consistently apply the term CDA to all forms of alopecia that are caused by MLPH-related coat color dilution and pigment aggregation. The term BHFD has been used in different contexts and may also have been used for genetically distinct forms of alopecia (e.g. Bohnhorst et al., 2001).","defect":true,"group_name":"Coat colour, dilution, MLPH-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0012220","iri":"http://purl.obolibrary.org/obo/MONDO_0012220","label":"Griscelli syndrome type 3"}],"name":"Colour mutant alopecia; Color dilution alopecia; Colour dilution alopecia; Black Hair Follicular Dysplasia; Blue Doberman Syndrome","omia_group_id":31,"omia_phene_id":101,"omia_record_id":"OMIA:000031-9615","publication_ids":[43193,56224,62212,63563,65282,67383,67920,73236,85199,87759,88827,99677,102256,107518,107558,107880,108085,109005,109602,109603,110403,110404,110405,115380,117863,120777,121716,122792,123125,123917,123923,124017,125653,127713,128998,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:101","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Alpha-1-antitrypsin deficiency","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":32,"omia_phene_id":102,"omia_record_id":"OMIA:000032-9615","publication_ids":[54619],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:102","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Alzheimer-like disease, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Canine cognitive dysfunction, CCD","omia_group_id":33,"omia_phene_id":103,"omia_record_id":"OMIA:000033-9615","publication_ids":[44336,73517,108997,108998,109000,109001,109002,110515,110516,120540,124633,124939,125228,125268,125294,125415,125444,125695,125905,125906,125936,125952,126589,128116,128571,128702,130003,130313,130590,130628,130784,130833,130869,130888,130960,131026,131050,132078,132094,132236,132537,132601,132619,132648,132694,132696,132809,132998,133013,133085,133240,133384,133395,133420,133493],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:103","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Amyloidosis, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":37,"omia_phene_id":110,"omia_record_id":"OMIA:000037-9615","publication_ids":[10510,32602,33034,51970,54008,54108,122383,122385,129387,129750,133298],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:110","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Amyloidosis, renal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":40,"omia_phene_id":117,"omia_record_id":"OMIA:000040-9615","publication_ids":[28521,44684,67973,68080,70981,81017,84242,88694,112198,122343,122385],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:117","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Diamond-Blackfan anaemia, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":41,"omia_phene_id":119,"omia_record_id":"OMIA:000041-9615","publication_ids":[37387,111268,111269],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:119","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ankylosing spondylitis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":46,"omia_phene_id":125,"omia_record_id":"OMIA:000046-9615","publication_ids":[12496],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:125","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Taillessness","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":977,"omia_phene_id":130,"omia_record_id":"OMIA:000977-9615","publication_ids":[5685,108759,110723],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:130","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Aortic stenosis, subvalvular","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":52,"omia_phene_id":131,"omia_record_id":"OMIA:000052-9615","publication_ids":[10203,11786,46394,60764,71751,73537,75213,82267,83800,93174,93910,109903,109904,109905,109912,109922,110025,113593,114091,116136,116324,118049,120859,121601,122061,125307,126261,129007,133055],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:131","source_release":"retrieved-2026-09-12","summary":"\"Subvalvular aortic stenosis (SAS) is one of the most common congenital heart defects of dogs ... that can result in fainting, a shortened life span, or sudden death. ... The disease is characterized by obstruction of the left ventricular outflow tract, resulting in pressure overload on the left ventricle. The etiology of obstruction is a fibromuscular nodule, ridge, or ring of tissue that increases aortic outflow tract velocity.\" (Ontiveros and Stern, 2021) See also OMIA:000952-9615 : Subaortic stenosis in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Aphakia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":54,"omia_phene_id":134,"omia_record_id":"OMIA:000054-9615","publication_ids":[8984],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:134","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Arthritis, rheumatoid","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":67,"omia_phene_id":149,"omia_record_id":"OMIA:000067-9615","publication_ids":[40667,43004,44063,59012,83182,87576],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:149","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Coton de Tulear (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200389"}],"characterised":true,"characterised_year":2011,"clinical_features":"\"Neurologic examination\" ... of 7 affected puppies ... \"revealed normal mental status, head titubation, intention tremors, and severe gait, stance, and ocular ataxia beginning at 2 weeks of age. One of the pups was able to walk with assistance, but most of the affected pups were unable to stand and used propulsive movements (‘‘swimming’’) for goal-oriented activities. They frequently would fall to lateral recumbency with subsequent decerebellate posturing and paddling. Ocular motor abnormalities included fine vertical tremors at rest and saccadic dysmetria. The condition was nonprogressive at least until 4 months of age.\" (Coates et al. 2002)","defect":true,"group_name":"Ataxia, cerebellar, neonatal, GRM1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013905","iri":"http://purl.obolibrary.org/obo/MONDO_0013905","label":"autosomal recessive spinocerebellar ataxia 13"}],"name":"Bandera's neonatal ataxia","omia_group_id":78,"omia_phene_id":170,"omia_record_id":"OMIA:000078-9615","publication_ids":[104983,110113,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:170","source_release":"retrieved-2026-09-12","summary":"Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes an ataxia form that is caused by a genetic variant in the GRM1 gene. Phenotypically related ataxias in dogs may also be caused by variants in more than 30 other genes (Cocostîrc et al. 2023; Stee et al. 2023). Thus, locus heterogeneity for this phenotype must be considered. The GRM1 associated canine disorder represents a model for spinocerebeallar ataxia, autosomal recessive 13 in humans (see MIM link above).","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Atrial septal defect","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":89,"omia_phene_id":189,"omia_record_id":"OMIA:000089-9615","publication_ids":[28968,82712,101631,107444,108310,109907,113593,117631,120859,124103,125307,127131],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:189","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Autoimmune thrombocytopenia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"primary immune-mediated thrombocytopenia","omia_group_id":95,"omia_phene_id":199,"omia_record_id":"OMIA:000095-9615","publication_ids":[108818,111003,111006,115888,117303,124989,127554,127627],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:199","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Black hair follicular dysplasia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":110,"omia_phene_id":215,"omia_record_id":"OMIA:000110-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:215","source_release":"retrieved-2026-09-12","summary":"The canine-specific entry of black hair follicular dysplasia has been merged with OMIA:000031-9615 : Coat colour, dilution, MLPH-related in Canis lupus familiaris on 23 Dec 2022.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Bleeding disorder","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":113,"omia_phene_id":220,"omia_record_id":"OMIA:000113-9615","publication_ids":[10075,28427,85251],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:220","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Blood group systems, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":116,"omia_phene_id":230,"omia_record_id":"OMIA:000116-9615","publication_ids":[20660,28789,29397,29881,32752,37301,42268,45324,49902,50330,73776,120421,121350,122970],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:230","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Brachycephalic obstructive airway syndrome","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"BOAS","omia_group_id":145,"omia_phene_id":305,"omia_record_id":"OMIA:000145-9615","publication_ids":[10319,78431,109834,109836,109837,114412,114413,114627,115247,115248,115249,115250,115251,115252,115253,115254,115255,115256,115257,115258,115259,115260,115261,115265,116203,116323,116653,116957,116999,117104,117105,117134,117366,117506,117694,118823,120315,120416,120498,121263,121353,121411,122017,122133,123057,123102,123816,123925,124126,124169,124181,124222,124439,124574,124697,124993,125109,125194,125276,125546,126158,126197,126280,126297,126903,126963,127037,127073,127328,127330,127795,127818,128455,128485,128991,129158,129602,129834,129976,130046,130414,130808,130887,131064,132077,132199,132343,132410,132560,132749,132771,132808,132909,132927,133036,133051,133220,133323,133408],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:305","source_release":"retrieved-2026-09-12","summary":"Brachycephalic Obstructive Airway Syndrome (BOAS) is a condition where the animal's ability to breathe, as well as it's ability to engage in normal behaviours is impacted negatively due to brachycephaly (the shape of a skull is shorter than typical for its species). In dogs, narrowed nostrils (stenotic nares), elongated soft palate, enlarged tongue, and reduced diameter of the windpipe have been associated with the condition (Ekenstedt et al., 2023). Elongated soft palates have been reported in non-brachycephalic dogs (Himel et al., 2023).","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Brachydactyly","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":146,"omia_phene_id":307,"omia_record_id":"OMIA:000146-9615","publication_ids":[110695,121411],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:307","source_release":"retrieved-2026-09-12","summary":"As described by Green (1957), this disorder is \"a recessive mutant which reduces the size and function of the outside toes on the front and sometimes the hind feet, with the result that the affected animals are really \"two-toed\" on those feet\".","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Australian Stumpy Tail Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200097"},{"name":"Austrian Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200103"},{"name":"Berger de Savoie Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200156"},{"name":"Braque du Bourbonnais (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200221"},{"name":"Brazilian Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200231"},{"name":"Brittany Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200239"},{"name":"Croatian Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200392"},{"name":"Danish/swedish Farm Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0000663"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"Donggyeongi, Republic of Korea (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0008063"},{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Karelian Bear Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200754"},{"name":"Mudi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200921"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"},{"name":"Polish Lowland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201035"},{"name":"Pyrenean Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201117"},{"name":"Schipperke (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201184"},{"name":"Spanish Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201280"},{"name":"Swedish Vallhund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201316"}],"characterised":true,"characterised_year":2001,"clinical_features":"","defect":true,"group_name":"Tail, short","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"autosomal dominant; early embryonic lethal when homozygous","mondo_terms":[],"name":"bob-tail, bob tail","omia_group_id":975,"omia_phene_id":316,"omia_record_id":"OMIA:000975-9615","publication_ids":[916,4815,95618,108432,108758,108759,120501,124287,125165,125653,127724],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:316","source_release":"retrieved-2026-09-12","summary":"Short tails (also known as bob-tails) occur as single-locus traits in a number of dog breeds.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200038"},{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Cardigan Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200290"},{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"Chesapeake Bay Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200326"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Coton de Tulear (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200389"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Nova Scotia Duck Tolling Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200964"},{"name":"Pekingese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200994"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Poodle, Toy (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201061"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"}],"characterised":true,"characterised_year":2017,"clinical_features":"Batcher et al. (2019) concluded that \"The FGF4 retrogene on CFA12 acts in a dominant manner to decrease the age of onset and increase the overall risk of disc disease in dogs. Other modifiers of risk may be present within certain breeds, including the FGF4 retrogene on CFA18.\"\r\nIn Nova Scotia Duck Tolling Retrievers, Murphy et al. (2019) concluded that dogs with the retrogene variant present with clinical signs \"consistent with premature chondroid degeneration of the intervertebral disc and suggest that the presence of the CFA12 FGF4 retrogene is sufficient to cause the chondrodystrophic phenotype.\"","defect":true,"group_name":"Intervertebral disc disease, predisposition to","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"Brown et al. (2017): \"IVDD-affected NSDTRs were also all either homozygous or heterozygous for the CFA12 FGF4 insertion. This supports the idea that while the CFA12 FGF4 insertion is semidominant with respect to height, it is dominant for altered IVDs\"\r\n Bannasch et al. (2022): \"Using individual measurements of height at the shoulder, back length, head width, thorax depth and width, and thoracic limb measurements, we evaluated the combined effects of FGF4 retrogenes [FGF4L1 and FGF4L2] within\" two breeds that segregate both retrogenes, namely Alpine Dachsbracke and the Schweizer Niederlaufhund. They found that \"both retrogenes had significant effects reducing height at the shoulders and antebrachial length, with FGF4L1 having a much greater effect than FGF4L2. FGF4L1 alone influenced the degree of carpal valgus and FGF4L2 alone increased head width. Neither retrogene had an effect on thorax width or depth.\" \r\nFrom a detailed analysis of 569 surgical cases of IVDD, Batcher et al. (2019) concluded that \"The FGF4 retrogene on CFA12 acts in a dominant manner to decrease the age of onset and increase the overall risk of disc disease in dogs. Other modifiers of risk may be present within certain breeds, including the FGF4 retrogene on CFA18.\"","mondo_terms":[],"name":"Intervertebral disc disease; Hansen type I / acute intervertebral disc extrusion","omia_group_id":157,"omia_phene_id":319,"omia_record_id":"OMIA:000157-9615","publication_ids":[3989,110476,110477,110484,110485,112579,112580,112986,112997,113157,114091,114241,114967,115586,116324,117087,117111,117136,117161,117314,117352,117420,117799,117800,117801,119355,119951,120869,121003,121080,122069,122493,122494,122802,123024,123130,123352,123353,123355,124081,124112,124521,124547,124704,124921,125087,125105,125435,125569,125570,125871,125945,125982,126280,126687,126689,126703,126864,126922,127186,127287,127697,127698,128012,128351,128475,128630,129074,129157,129482,129530,129592,129643,129989,130209,130218,130331,130667,130700,131164,132091,132333,132338,133380,133448,133534,133535,133564],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:319","source_release":"retrieved-2026-09-12","summary":"\"Two FGF4 retrogenes (FGF4L1 on chromosome 18 and FGF4L2 on chromosome 12) have been identified to cause dwarfism across many dog breeds. Some breeds are nearly homozygous for both retrogenes (e.g., Dachshunds) and others are homozygous for just one (e.g., Beagles and Scottish Terriers)\" (Bannasch et al., 2022)","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Calcinosis circumscripta","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":158,"omia_phene_id":320,"omia_record_id":"OMIA:000158-9615","publication_ids":[68647,73237,123767,123768],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:320","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cardiomyopathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":160,"omia_phene_id":323,"omia_record_id":"OMIA:000160-9615","publication_ids":[9638,17668,56448,59548,64143,65838,68061,68199,68203,68537,72637,79564,82211,83292,84434,89225,89232,89938,91095,93534,98923,102720,106996,109899,109909,109919,121792,124467,124498,130187,132350],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:323","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Borzoi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200197"},{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"},{"name":"Irish Wolfhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200706"},{"name":"Newfoundland (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200938"},{"name":"Nova Scotia Duck Tolling Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200964"},{"name":"Portuguese Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201077"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":false,"characterised_year":null,"clinical_features":"Clinical features of canine dilated cardiomyopathy (DCM) can have a sudden onset and often present secondary to diminished cardiac pumping function. This can manifest as decreased oxygenated blood delivery to the body (lethargy, weakness, exercise intolerance, collapse) or pulmonary blood congestion (coughing, tachypnoea, dyspnoea) (Tidholm and Jönsson, 1996). Radiographic evidence of ascites or pleural effusion, and pulmonary oedema, are also clinical features of DCM (Harmon et al., 2017). Echocardiography may reveal a systolic murmur and hypokinesis (Tidholm et al., 2001). [IT thanks DVM student Lexie Hunter, who provided the basis of this contribution in April 2022.]","defect":true,"group_name":"Cardiomyopathy, dilated","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"A juvenile form of this disorder, unique to Portugese water dogs, is autosomal recessive (Dambach et al., 1999; Alroy et al., 2000; Sleeper et al., 2002). In Doberman pinschers, Meurs et al. (2007) reported autosomal dominant inheritance with incomplete penetrance, which is, in effect, multifactorial inheritance (previously listed here incorrectly as recessive, corrected based on feeback from Lorène Massip [29/08/2025]. Oertle et al. (2023) report a recessive form of the disease in Nova Scotia Duck Tolling Retrievers.","mondo_terms":[],"name":"Dilated cardiomyopathy","omia_group_id":162,"omia_phene_id":327,"omia_record_id":"OMIA:000162-9615","publication_ids":[25342,38776,53719,62126,68728,70603,70685,71943,75352,75604,77316,77433,78003,78315,79076,79133,79360,81102,81580,82710,85508,86118,86154,86838,86853,87417,87697,87712,88667,90566,92228,93925,95021,95034,95059,95479,96742,97759,98245,98536,98675,98809,98868,98919,99357,99405,99476,105606,107016,107090,107270,107271,107272,107296,107440,107448,107594,108288,108304,108321,108323,108331,108358,108359,108446,108812,108814,109438,109439,109457,109913,110027,110057,110201,112385,112519,112647,114042,114091,114962,115444,116324,116669,117028,117308,117367,117421,117917,118002,118049,118542,119093,119128,120409,120484,120790,120825,121121,121792,122070,122450,122523,122775,123248,123249,123250,123251,123252,123253,123254,123426,123917,124106,124168,124651,124739,125015,125165,125307,125393,125534,125589,125623,125624,125635,125767,125768,126159,126244,126245,126246,126247,126248,126249,126756,127008,127112,127469,128714,128883,129582,129817,130374,131145,132776,132890,133428,133431],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:327","source_release":"retrieved-2026-09-12","summary":"See also gene specific entries for dilated cardiomyopathy such as: 'OMIA:002365-9615 Cardiomyopathy, dilated, RBM20-related', OMIA:002195-9615 Cardiomyopathy, dilated, PLN-related', OMIA:002796-9615 : Cardiomyopathy, dilated, LMNA-related, and OMIA:002710-9615 : Cardiomyopathy, dilated, ABCC9-related","taxon_id":9615,"upheno_terms":[{"id":"HP:0001649","iri":"http://purl.obolibrary.org/obo/HP_0001649","label":"tachycardia"},{"id":"HP:0002094","iri":"http://purl.obolibrary.org/obo/HP_0002094","label":"dyspnea"},{"id":"HP:0003546","iri":"http://purl.obolibrary.org/obo/HP_0003546","label":"exercise intolerance"},{"id":"HP:0031658","iri":"http://purl.obolibrary.org/obo/HP_0031658","label":"third heart sound"},{"id":"MP:0001263","iri":"http://purl.obolibrary.org/obo/MP_0001263","label":"weight loss"},{"id":"MP:0001954","iri":"http://purl.obolibrary.org/obo/MP_0001954","label":"respiratory distress"},{"id":"MP:0002833","iri":"http://purl.obolibrary.org/obo/MP_0002833","label":"increase heart weight"},{"id":"MP:0005324","iri":"http://purl.obolibrary.org/obo/MP_0005324","label":"ascites"},{"id":"MP:0006138","iri":"http://purl.obolibrary.org/obo/MP_0006138","label":"congestive heart failure"},{"id":"MP:0031088","iri":"http://purl.obolibrary.org/obo/MP_0031088","label":"cough"},{"id":"MP:0031104","iri":"http://purl.obolibrary.org/obo/MP_0031104","label":"crackle"},{"id":"MP:0031302","iri":"http://purl.obolibrary.org/obo/MP_0031302","label":"syncope"}]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cardiovascular malformations","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":165,"omia_phene_id":331,"omia_record_id":"OMIA:000165-9615","publication_ids":[7720,8199,8268,10360,128156],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:331","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Carpal subluxation","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":166,"omia_phene_id":332,"omia_record_id":"OMIA:000166-9615","publication_ids":[7665],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:332","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cataract, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":168,"omia_phene_id":335,"omia_record_id":"OMIA:000168-9615","publication_ids":[37,942,1092,3486,3725,4054,6683,7220,7805,7950,8679,9066,9376,9463,20383,25053,30178,42402,52340,52616,63218,66659,78479,101938,104308,106922,106968,108060,108073,108315,108335,108343,108445,108705,108832,108846,109401,109402,109513,109516,109665,109806,109807,109809,109810,109811,109812,109813,109814,109815,109816,109817,109818,109819,109820,109821,109822,114091,115434,115686,116313,116317,116324,116340,116647,116801,117385,118028,118119,123876,125219,126600,127574,129746],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:335","source_release":"retrieved-2026-09-12","summary":"Forms of inherited cataract for which the genetic causes have been identified have been been described, for examples see 'OMIA:001758-9615 : Cataract, early onset, HSF4-related' and OMIA:002536-9615 : Cataract, FYCO1-related","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cauda equina syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":170,"omia_phene_id":339,"omia_record_id":"OMIA:000170-9615","publication_ids":[40450,63834,75510,80343,82431,84709,87776,88965,89388,93494,99219,106981,107351,112424,112664,112665,112666,112667,112668,112669,114173,117422,117954],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:339","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Central core myopathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":172,"omia_phene_id":340,"omia_record_id":"OMIA:000172-9615","publication_ids":[46440],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:340","source_release":"retrieved-2026-09-12","summary":"see also OMIA:001660-9615 : Centronuclear myopathy 2, BIN1-related in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cerebellar Purkinje cell degeneration","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":174,"omia_phene_id":342,"omia_record_id":"OMIA:000174-9615","publication_ids":[47216,125285],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:342","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Kelpie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200090"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"Brittany Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200239"},{"name":"English Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200485"},{"name":"Kerry Blue Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200764"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Lagotto Romagnolo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200804"},{"name":"Working Kelpie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201434"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cerebellar abiotrophy","inheritance":null,"inheritance_text":"Wade et al. (2022): \"Based on past breeding studies, pedigree analysis and segregation analysis, CA has been suspected or confirmed to have an autosomal recessive mode of inheritance in many of the affected dog breeds ... .\"","mondo_terms":[],"name":"cerebellar ataxia","omia_group_id":175,"omia_phene_id":343,"omia_record_id":"OMIA:000175-9615","publication_ids":[41201,61876,66613,92131,102950,109270,110225,110226,111657,112558,112559,116013,117815,117875,121459,123862,123883,123884,123885,123886,123887,125285,125290],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:343","source_release":"retrieved-2026-09-12","summary":"Cerebellar abiotrophy (CA) has been diagnosed in many dog breeds and different names have been used for the disease - please see separate entries in OMIA for CA diseases with known likely causal variants, e.g. OMIA:002092-9615 : Ataxia, spinocerebellar, SPTBN2-related in Canis lupus familiaris; OMIA:002602-9615 : Cerebellar abiotrophy, VMP1-related in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cerebellar hypoplasia","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Knecht et al. (1979) provided evidence for autosomal recessive inheritance.","mondo_terms":[],"name":"","omia_group_id":179,"omia_phene_id":351,"omia_record_id":"OMIA:000179-9615","publication_ids":[106168,115894],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:351","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Neuronal Ceroid Lipofuscinosis, generic","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Autosomal recessive (Koppang, 1973)","mondo_terms":[],"name":"Neuronal ceroid lipofuscinosis","omia_group_id":181,"omia_phene_id":357,"omia_record_id":"OMIA:000181-9615","publication_ids":[568,7163,8353,18501,28822,40556,40760,42111,49641,59332,59433,59446,66711,71279,72233,73031,79870,79871,93812,107156,107305,107328,107567,107568,108342,108549,109270,111406,113602,114724,114727,114728,114729,114730,114731,114732,114733,114734,114735,115447,117735,120540,122714,122722,132831],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:357","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Great Pyrenees (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200629"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Chondrodysplasia, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":187,"omia_phene_id":372,"omia_record_id":"OMIA:000187-9615","publication_ids":[51912,124358],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:372","source_release":"retrieved-2026-09-12","summary":"Information previously listed here relating to chondrodysplasia related to FGF4 retrogenes has been moved to 'OMIA:002542-9615 : Chondrodysplasia, FGF4 retrogene-related in Canis lupus familiaris' [22/03/2022]","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Brittany Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200239"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Pyrenean Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201113"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cleft palate","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":197,"omia_phene_id":389,"omia_record_id":"OMIA:000197-9615","publication_ids":[8289,53300,78920,112746,112747,112748,115540,115563,115564,115565,115567,117705,120073,123356,123357,124820,125689,127232],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:389","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Coat colour, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":200,"omia_phene_id":399,"omia_record_id":"OMIA:000200-9615","publication_ids":[8357,9414,9560,9660,9685,12750,12943,13476,15680,22131,24923,26917,32836,39004,47121,53471,61000,70182,87795,105728,108340,108341,121377,122051,123404,125979,129222],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:399","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2020,"clinical_features":"","defect":true,"group_name":"Coat/skin colour, oculocutaneous albinism type I (OCA1), TYR-related","inheritance":null,"inheritance_text":"Bychkova et al. (2020): \"The proband’s mother, which is black-and-tan, is a heterozygous carrier of the c.230A allele [omia.variant:1247]\".","mondo_terms":[],"name":"Acromelanism; Himalayan coat color/colour","omia_group_id":202,"omia_phene_id":421,"omia_record_id":"OMIA:000202-9615","publication_ids":[103170,120945,122792,124017,128907],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:421","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Koolie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200091"},{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Cardigan Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200290"},{"name":"Catahoula Leopard Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200298"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Collie Rough (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200376"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"},{"name":"Labradoodle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200798"},{"name":"Miniature American Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200880"},{"name":"Miniature Australian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200881"},{"name":"Mudi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200921"},{"name":"Pyrenean Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201117"},{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"},{"name":"Welsh Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201410"}],"characterised":true,"characterised_year":2006,"clinical_features":"As reported by Clark et al. (2006) (citing Sorsby and Davey, 1954), \"Dogs having Mm and MM genotypes typically have blue eyes and often exhibit a wide range of auditory and ophthalmologic abnormalities\" Strain et al. (2009) assessed a sample of 153 merle dogs from 10 breeds plus one mixed-breed dog and reported \"Deafness prevalence in merles overall was 4.6% unilaterally deaf and 4.6% bilaterally deaf. There was a significant association between hearing status and heterozygous versus homozygous merle genotype. For single merles (Mm), 2.7% were unilaterally deaf and 0.9% were bilaterally deaf. For double merles (MM), 10% were unilaterally deaf and 15% were bilaterally deaf. There was no significant association with eye color or sex.\"","defect":true,"group_name":"Coat colour, merle","inheritance":{"code":"AID","name":"Autosomal incomplete dominant"},"inheritance_text":"","mondo_terms":[],"name":"This is the classic M (Merle) locus (Little, 1957)","omia_group_id":211,"omia_phene_id":435,"omia_record_id":"OMIA:000211-9615","publication_ids":[4623,6735,7619,8012,15421,83190,83191,83192,83193,107054,107563,107799,109240,109241,109242,113200,113201,113202,113203,113204,113205,116840,117010,118078,118177,119927,119928,119929,119931,120804,121989,122792,124017],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:435","source_release":"retrieved-2026-09-12","summary":"Varga et al. (2020): \"The intensity of the merle pattern is determined by the length of the poly(A) tail of a repeat element which has been inserted into the boundary of intron 10 and exon 11 of the PMEL17 locus in reverse orientation. This poly(A) tail behaves as a microsatellite, and due to replication slippage, longer and shorter alleles of it might be generated during cell divisions. The length of the poly(A) tail regulates the splicing mechanism. In the case of shorter tails, the removal of intron 10 takes place at the original splicing, resulting in a normal premelanosome protein (PMEL). Longer tails generate larger insertions, forcing splicing to a cryptic splice site, thereby coding for an abnormal PMEL protein, which is unable to form the normal fibrillar matrix of the eumelanosomes. Thus, eumelanin deposition ensuring the dark color formation is reduced. In summary, the longer the poly(A) tail, the lighter the coat color intensity of the melanocytes. These mutations can occur in the somatic cells and the resulting cell clones will shape the merle pattern of the coat. When they take place in the germ line, they occasionally produce offspring with unexpected color variations which are different from those of their parents.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Alaskan Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200015"},{"name":"Australian Kelpie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200090"},{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Boykin Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200214"},{"name":"Chinook (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200353"},{"name":"Collie Rough (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200376"},{"name":"Collie Smooth (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200377"},{"name":"Hokkaido (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200671"},{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Koolie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200782"},{"name":"Lancashire Heeler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200808"},{"name":"Lapponian Herder (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200814"},{"name":"Long-Haired Whippet (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200833"},{"name":"Nova Scotia Duck Tolling Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200964"},{"name":"Old English Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200969"},{"name":"Parson Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200987"},{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"},{"name":"Siberian Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201233"},{"name":"Silken Windhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201235"},{"name":"Smithfield (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201256"},{"name":"Tamaskan Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201334"}],"characterised":true,"characterised_year":2007,"clinical_features":"CEA presents as varying levels of visual impairment, from no visual impairment to complete blindness. As summarised by Fredholm et al. (2016), \"Collie eye anomaly (CEA) is a congenital, inherited ocular disorder which is widespread in herding breeds. Clinically, the two major lesions associated with CEA are choroidal hypoplasia (CH) and coloboma, and both lesions are diagnosed based on ophthalmological examination\". Choroidal hypoplasia is noted as a defect in the ocular fundus temporal to the optic nerve, which can be detected during ophthalmoscopic exam. Some affected dogs have tortuous retinal vessels and multiple retinal folds. More severely affected dogs can develop retinal detachments leading to blindness. These dogs can also develop subretinal and preretinal neovascularization and intraocular hemorrhage (Lowe et al., 2003).","defect":true,"group_name":"Choroidal hypoplasia, NHEJ1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Colobomas only occur in dogs of four breeds (Collie, Border Collie, Australian Shepherd, and Shetland Sheepdog) that are homozygous for the likely causal mutation (Parker et al., 2007). Some affected dogs in these breeds have been observed to “go normal” later, most of which were homozygous for the likely causal mutation, but a small minority were heterozygous. This suggests other loci may have an effect on CEA expression, i.e. that the disorder is multifactorial.","mondo_terms":[],"name":"Collie eye anomaly; Collie eye defect, choroidal hypoplasia, Collie \r\nectasia syndrome, scleral ectasia syndrome","omia_group_id":218,"omia_phene_id":443,"omia_record_id":"OMIA:000218-9615","publication_ids":[2688,4630,6371,7454,8427,8546,9059,9080,9244,9303,9729,14085,23096,29202,83696,89128,89264,90936,101097,107397,107778,107779,107780,108235,109352,109353,109355,109823,109824,109825,109826,109827,109828,109829,109830,112004,112584,116792,116840,117688,118018,118914,120434,121193,122523,123103,123262,123263,123264,123265,123267,123269,123270,124287,125219,126405,129719,130017],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:443","source_release":"retrieved-2026-09-12","summary":"Collie eye anomaly (CEA) is a complex developmental defect of the posterior segment of the eye characterized by choroid hypoplasia. Malformations are present at birth and may include inadequate development of the choroid (choroidal hypoplasia), defects of the choroid, sclera, and/or optic nerve (coloboma/staphyloma), and complete retinal detachment (with or without hemorrhage). Mildly affected animals will have no detectable vision deficit. (Genetics Committee of the American College of Veterinary Opthalmologists, 2021).","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Keeshond (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200759"}],"characterised":false,"characterised_year":null,"clinical_features":"Clinical signs include exercise intolerance with cyanosis and a systolic murmur. Radiographs may show reduced circulation in the pulmonary vessels along with right ventricular hypertrophy. Diagnosis can be obtained by echocardiogram or angiogram. ","defect":true,"group_name":"Conotruncal heart malformations","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Conotruncal defects are inherited as a complex trait in the Keeshond, involving multiple loci and environmental influences (Werner et al., 2005).","mondo_terms":[],"name":"","omia_group_id":224,"omia_phene_id":451,"omia_record_id":"OMIA:000224-9615","publication_ids":[3442,7845,36652,87455,106918,110023,110024],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:451","source_release":"retrieved-2026-09-12","summary":"Conotruncal defects are a type of congenital heart defect characterized by abnormal formation and union of the endocardial cushions that normally divide the atrioventricular canal during development. The severity of the defect can vary from subclinical to life threatening. Clinical signs include exercise intolerance, cyanosis, and a systolic murmur. \r\n\r\nEdited by Meg Sleeper, VMD and Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cor triatriatum dexter","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":227,"omia_phene_id":454,"omia_record_id":"OMIA:000227-9615","publication_ids":[19284,38883,46805,47120,86430,89316,92127,95642,105801,108808,117115,117307,129433],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:454","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Corneal dermoid","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":229,"omia_phene_id":456,"omia_record_id":"OMIA:000229-9615","publication_ids":[49340],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:456","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"},{"name":"German Wirehaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200602"},{"name":"Lagotto Romagnolo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200804"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Corneal dystrophy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":230,"omia_phene_id":458,"omia_record_id":"OMIA:000230-9615","publication_ids":[17892,117994,121093,121098,121099,121100,125219,129746],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:458","source_release":"retrieved-2026-09-12","summary":"Genetics Committee of the American College of Veterinary Opthalmologists (2021): \"non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers (epithelium, stroma, endothelium). The term dystrophy implies an inherited condition. It is usually bilateral although not necessarily symmetrical and the onset in one eye may precede the other.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Coxofemoral dysplasia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":233,"omia_phene_id":461,"omia_record_id":"OMIA:000233-9615","publication_ids":[71765],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:461","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Coxofemoral luxation","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":234,"omia_phene_id":462,"omia_record_id":"OMIA:000234-9615","publication_ids":[30693,92470,132591],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:462","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Airedale Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200008"},{"name":"Akita (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200010"},{"name":"American Pit Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200054"},{"name":"Australian Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200098"},{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"Bull Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200253"},{"name":"Cairn Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200267"},{"name":"Curly Coated Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200397"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"English Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200485"},{"name":"German Wirehaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200602"},{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Old English Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200969"},{"name":"Pyrenean Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201113"},{"name":"Scottish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201198"},{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"},{"name":"West Highland White Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201415"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Craniomandibular osteopathy, generic","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Padgett and Mostosky (1965) concluded autosomal recessive inheritance in the West Highland White terrier breed. Vagt and Distl (2108) reported evidence for multifactorial inheritance of this disorder in the Deutsch Drahthaar breed.","mondo_terms":[],"name":"","omia_group_id":236,"omia_phene_id":465,"omia_record_id":"OMIA:000236-9615","publication_ids":[60462,60624,81204,102023,115090,115091,115092,115093,115096,115097,115098,115099,115100,115101,115102,115103,115104,115105,115106,117894,120448],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:465","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cranioschisis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":237,"omia_phene_id":466,"omia_record_id":"OMIA:000237-9615","publication_ids":[9921],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:466","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Siberian Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201233"}],"characterised":false,"characterised_year":null,"clinical_features":"Undescended testes may be located anywhere from the caudal pole of the kidney to the inguinal canal, or outside of the canal but cranial to the scrotum (Meyers-Wallen, 2011). Canine testes normally pass through the inguinal canal within 10 days after birth (Gier and Marion, 1969), but scrotal testes are not easily palpable in neonates. Dogs can be considered cryptorchid if one or both testes are not palpable in the scrotum by 6 to 8 weeks of age (Meyers-Wallen, 2011). Later testis descent can occur, and is more common with unilaterally cryptorchid dogs (Dunn et al., 1968).","defect":true,"group_name":"Cryptorchidism","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Inheritance of this condition is recessive and polygenic, with contributions from epigenetic and environmental factors (Zhao et al., 2010).","mondo_terms":[{"id":"MONDO:0009047","iri":"http://purl.obolibrary.org/obo/MONDO_0009047","label":"cryptorchidism"}],"name":"","omia_group_id":243,"omia_phene_id":475,"omia_record_id":"OMIA:000243-9615","publication_ids":[1620,7097,7151,8304,9123,9497,9628,17736,30478,35179,39071,39603,51923,60160,66707,99036,104021,109459,109515,109565,109910,110531,110532,110533,110535,111421,111595,111596,112596,112597,115276,115277,119166,120835,122620,122639,122719,123041,123351,124947,125476,125496,126786,126890,127538,128598,128644,129336,130390,130421,130849,132573,132871,133133],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:475","source_release":"retrieved-2026-09-12","summary":"Cryptorchidism is characterized by the presence of one or two undescended testes in an otherwise phenotypically normal male (isolated cryptorchidism). Canine cryptorchidism is common in the dog population as a whole, with high prevalence in some breeds. Undescended testes have an increased risk of developing neoplasia. Breeding of affected dogs is discouraged. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT, modified by Imke Tammen [28/09/2023]","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cushing syndrome, ACTH-dependent, pituitary-dependent hyperadrenocorticism","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":247,"omia_phene_id":486,"omia_record_id":"OMIA:000247-9615","publication_ids":[45560,47977,52316,57557,65010,72331,81835,83026,83107,83590,93074,95857,96362,96648,98135,98169,106972,108074,110187,117106,122465,122653,124365,126499,126510,128689,129077,130648,133535],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:486","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200375"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2003,"clinical_features":"Clinical signs are associated with severe neutropenia, and include recurrent fever, anorexia, and severe infections, which can be life threatening (Dale et al., 1972, Pacheco et al., 2008). Affected animals have an associated coat color dilution, producing a gray coat color.","defect":true,"group_name":"Neutropenia, cyclic","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Grey Collie Syndrome; Gray Collie Syndrome","omia_group_id":248,"omia_phene_id":487,"omia_record_id":"OMIA:000248-9615","publication_ids":[2505,4008,4009,7296,7391,7833,7836,8535,9191,9350,9414,9518,26815,61591,66745,106220,106537,107084,107218,109399,110455,123453,123454,123455,123456,123457,123458,123459,123460,123461,123462,123463,123464,123465,123466,123467,123468,123469,123470,123471,123472,123473,123474,123475,123476,123477,123478,123479,123480,123481,123482,123483,123484,123485,123486,123487,123488,123489,123490,123491,123492,123493,123494,123495,123496,123497,123498,123499,123500,123501,123502,123503,123504,123505,123506,123507,123508,123509,123510,123511,123512,123513,123514,123515,125867,127727],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:487","source_release":"retrieved-2026-09-12","summary":"Cyclic neutropenia, also known as cyclic hematopoiesis or Grey/Gray Collie Syndrome, is characterized by cyclic fluctuations in the numbers of leucocytes, particularly neutrophils. Affected animals have an associated coat color dilution, producing a gray coat color. Affected dogs have cyclic reductions in leucocyte numbers, particularly neutrophils, which are associated with recurrent fever, anorexia, and severe infections, often life threatening. The mode of inheritance is autosomal recessive. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cystic bone lesions","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":251,"omia_phene_id":491,"omia_record_id":"OMIA:000251-9615","publication_ids":[6550,111222],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:491","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"English Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200485"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Landseer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200809"},{"name":"Newfoundland (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200938"}],"characterised":true,"characterised_year":2000,"clinical_features":"Presenting signs include recurrent cystitis, hematuria, and stranguria. Calculi may become lodged in the urinary bladder, urethra, or kidney, causing partial or complete urinary blockage, which can result in renal failure (Brons et al., 2013). A relatively earlier age of onset has been identified in Newfoundlands compared to other breeds that develop cystinuria. Diagnosis is achieved by identifying characteristically hexagonal cystine crystals in urine sediment, or cystine calculi in stone analysis. Metabolic screening tests on urine (cyanide nitroprusside test, amino acid chromatography or amino acid quantification) can detect cystinuria before or after clinical onset. Since cystine easily precipitates in acidic urine to form uroliths, treatment includes alkalinization of the urine, high fluid intake, and drugs that increase cystine solubility (Harnevik et al., 2006).\r\nAs summarised by Brons et al. (2013), Cystinuria type I - A is characterised by: occurs in males and females; not androgen-dependent; COLA [μmol/g creatinine (normal ≤500)] ≥8,000 in homozygotes and ≤500 in heterozygotes.","defect":true,"group_name":"Cystinuria, type I - A","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"The mode of inheritance in Newfoundlands is autosomal recessive (Casal et al., 1995). The Labrador genotyping results of Brons et al. (2013) implied autosomal recessive inheritance in that breed. Genotyping results in English Bulldogs also suggest a recessive mode of inheritance (Harnevik et al. 2006; Ruggerone et al., 2016; Fitzwilliams et al., 2023).","mondo_terms":[],"name":"Cystine urolithiasis","omia_group_id":256,"omia_phene_id":497,"omia_record_id":"OMIA:000256-9615","publication_ids":[7475,9472,39779,40502,40576,64223,85144,94347,98840,110092,110471,110472,114892,114893,123132,124480,124481,125653,129822],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:497","source_release":"retrieved-2026-09-12","summary":"Cystinuria, type 1 - A is an inherited defect that causes failure of reabsorption of cystine in the proximal renal tubule, leading to cystine precipitation in the urine. Formation of crystals and calculi lead to urolithiasis and urinary tract obstruction. The disorder is inherited as an autosomal recessive trait and it is caused by a mutation in SLC3A1. \r\n\r\nEdited by Dr. Paula Henthorn (modified by IT 23/5/2022 and 29/3/2023)","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200255"},{"name":"Catahoula Leopard Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200298"},{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"Dogo Argentino (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200445"},{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"English Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200495"},{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Whippet (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201421"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Deafness, generic","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Lewis et al. (2020): \"Heritability of CSD was approximately 0.3 (across models) and significantly >0. Genetic correlations between CSD and blue irises (+0.6) and pigmented head patch (-0.86) were large in magnitude and significantly different form 0.\"","mondo_terms":[],"name":"Congenital sensorineural deafness","omia_group_id":259,"omia_phene_id":502,"omia_record_id":"OMIA:000259-9615","publication_ids":[1351,1508,7644,8583,9329,26151,28382,28393,46090,46690,47121,65182,69763,71026,77049,77069,82147,83720,86065,87345,87795,90904,91168,92267,101480,105630,107160,107256,107300,107406,107416,108319,109241,109242,109278,109520,109522,109523,109589,113443,113444,113445,113446,115375,115462,118015,119930,120788,120872,120881,121004,121815,121865,122672,123363,123364,123636],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:502","source_release":"retrieved-2026-09-12","summary":"This entry focuses on congenital sensorineural deafness for which likely causal variants have so far not been identified. Several other forms of deafness in dogs have a Mendelian mode of inheritance and likely causal variants have been identified, some examples include 'OMIA:002550-9615 : Deafness, EPS8L2-related'; 'OMIA:002336-9615 : Deafness, LOXHD1-related'; 'OMIA:002326-9615 : Deafness, KLF7-related'; 'OMIA:002148-9615 : Deafness, bilateral, and vestibular dysfunction'; 'OMIA:002196-9615 : Deafness, unilateral and vestibular dysfunction'. A separate entry provides information for deafness with adult onset: 'OMIA:001727-9615 : Deafness, adult-onset'.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Alaskan Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200015"},{"name":"Alaskan Malamute (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200017"},{"name":"American Eskimo Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200046"},{"name":"American Water Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200059"},{"name":"Anatolian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200062"},{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"},{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Belgian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200144"},{"name":"Belgian Shepherd Dog, Malinois (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200147"},{"name":"Bernese Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200161"},{"name":"Bloodhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200175"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Borzoi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200197"},{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"Briard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200234"},{"name":"Canaan Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200274"},{"name":"Cardigan Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200290"},{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"Chesapeake Bay Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200326"},{"name":"Chinese Crested (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200345"},{"name":"Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200375"},{"name":"Collie Rough (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200376"},{"name":"Coton de Tulear (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200389"},{"name":"Czechoslovakian Wolfdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200402"},{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"English Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200492"},{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Great Pyrenees (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200629"},{"name":"Hovawart (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200674"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"Irish Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200702"},{"name":"Irish Wolfhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200706"},{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Kerry Blue Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200764"},{"name":"Komondor (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200779"},{"name":"Kuvasz (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200793"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"},{"name":"Newfoundland (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200938"},{"name":"Norwich Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200962"},{"name":"Nova Scotia Duck Tolling Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200964"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Poodle, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201056"},{"name":"Poodle, Toy (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201061"},{"name":"Pug (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201089"},{"name":"Puli (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201102"},{"name":"Rat Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201125"},{"name":"Rhodesian Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201135"},{"name":"Romanian Mioritic Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201141"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Saint Bernard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201160"},{"name":"Samoyed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201174"},{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"},{"name":"Shiloh Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201226"},{"name":"Siberian Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201233"},{"name":"Soft Coated Wheaten Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201260"},{"name":"Staffordshire Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201296"},{"name":"Tamaskan Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201334"},{"name":"Tenterfield Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201342"},{"name":"Tibetan Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201353"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"},{"name":"Welsh Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201412"},{"name":"White Swiss Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201423"},{"name":"Wire Fox Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201424"}],"characterised":true,"characterised_year":2009,"clinical_features":"Most dogs are at least 8 years of age at the onset of clinical signs, which include hyporeflexia, upper motor neuron proprioceptive spasticity and ataxia in the pelvic limbs. Widespread limb muscle atrophy can be observed and the disease progresses to paraplegia and eventually flaccid tetraparesis (Awano et al., 2009). Hyperesthesia, cranial nerve signs (e.g. difficulty in swallowing and barking), urinary and fecal incontinence (Coates et al., 2010) can be observed and in final stages of the disease respiratory muscles fail (Nardone et al., 2016). There is no effective treatment. [IT thanks DVM student Jane Lai for contributions to this entry in April 2022].","defect":true,"group_name":"Degenerative myelopathy","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Canine degenerative myelopathy, hereditary canine spinal muscular atrophy","omia_group_id":263,"omia_phene_id":506,"omia_record_id":"OMIA:000263-9615","publication_ids":[45487,100311,103651,108312,108760,109363,109901,111881,113595,113603,113833,114546,114854,114989,115366,115433,115512,115551,116329,116695,116840,117201,117364,117669,117699,119366,119471,120377,120540,120880,121023,121191,121818,121866,122054,122523,122898,123033,123182,123443,124066,124287,124745,124888,124906,125503,125538,125653,125694,125892,126503,126702,128324,128458,128697,129211,129321,129323,129326,129893,129989,130085,130405,130739,132444,132519,132575,132801,132814,133306,133351],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:506","source_release":"retrieved-2026-09-12","summary":"This is an adult onset degeneration of the spinal cord that progresses to paraplegia and tetraparesis. There is no successful treatment. A genetic test is available. A different mutation in the SOD1 gene causes an early onset disease: OMIA:002322-9615 : Dyskinesia, paroxysmal, SOD1-related in Canis lupus familiaris.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Degenerative myopathy of obturator-externus","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":265,"omia_phene_id":508,"omia_record_id":"OMIA:000265-9615","publication_ids":[39404],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:508","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200258"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Pug (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201089"},{"name":"West Highland White Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201415"}],"characterised":false,"characterised_year":null,"clinical_features":"Clinical and other issues relating to this disorder were comprehensively covered in an extensive series of papers published in Veterinary Immunology and Immunopathology in 2001 (all included in the references below) by the ACVD task force on canine atopic dermatitis.","defect":true,"group_name":"Dermatitis, atopic","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Shaw et al. (2004) estimated the heritability of CAD (as a binary trait) to be 0.47 in Golden and Labrador Retrievers.","mondo_terms":[],"name":"Canine atopic dermatitis (CAD)","omia_group_id":269,"omia_phene_id":512,"omia_record_id":"OMIA:000269-9615","publication_ids":[45988,70255,77390,79051,81874,84902,89313,89529,91531,92519,92782,98736,98933,99065,99140,99482,100139,100150,100152,100460,100466,100472,100752,100895,101129,101407,101465,101674,101719,102091,102167,103217,103407,106149,106187,106921,106931,106956,106983,106985,107004,107238,107321,107468,108474,109370,109441,109449,109470,109680,110301,110528,110545,112221,112447,112963,113241,113242,113483,113484,113485,113486,113487,113488,113489,113490,113491,113492,113565,113763,113817,113966,113971,113972,113973,113974,113975,113976,113977,113978,113979,113980,113981,113982,113983,113984,113985,113986,113987,113988,113989,113990,113991,113992,113993,113994,113995,113996,113997,113998,113999,114000,114001,114002,114003,114023,114080,114190,114213,114246,114248,114374,114691,114692,114708,114899,114939,115427,115428,115493,115518,115842,115880,115899,115900,115901,115902,115903,115904,115905,115906,115907,115908,115909,115943,115944,116262,116282,116289,116402,116710,116754,116760,116848,116937,117137,117138,117344,117374,117877,118859,119249,120380,120629,120813,120848,121660,121935,122235,122248,122310,122525,122864,122995,123022,123945,124080,124109,124267,124406,124455,124605,124884,125493,125521,125526,125854,126080,126131,126351,126383,126384,126476,126913,126953,127128,127394,127509,127751,127764,128255,128418,128515,128938,128939,129142,129257,129364,130068,130132,130296,130568,130606,130767,130788,130805,131042,131159,132118,132446,132549,132704,132777,132790,133151,133232,133419,133535,133538],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:512","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Dermatomyositis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":270,"omia_phene_id":513,"omia_record_id":"OMIA:000270-9615","publication_ids":[10672,31741,31948,32137,79356,91093,107578,116722,117614],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:513","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Chow Chow (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200361"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Italian Cane Corso (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200712"},{"name":"Rhodesian Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201135"},{"name":"Siberian Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201233"},{"name":"Thai Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201348"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":true,"characterised_year":2007,"clinical_features":"","defect":true,"group_name":"Dermoid sinus","inheritance":null,"inheritance_text":"\"[T]he ridge trait [in Rhodesian Ridgeback dogs] is inherited in a dominant fashion; thus a single copy of this duplication results in appearance of a ridge, and dogs with two copies of the duplication are indistinguishable from dogs with one copy\" (Waldo and Diaz, 2015) Homozygotes for the Ridge allele are more likely to also have a dermoid sinus (Salmon Hillbertz et al., 2007). Inheritance of dermoid sinuses in other breeds is less well documented.","mondo_terms":[],"name":"ridge; hair ridge; dermoid cyst","omia_group_id":272,"omia_phene_id":515,"omia_record_id":"OMIA:000272-9615","publication_ids":[6197,9838,40863,58304,84256,86221,93489,108243,108246,109590,109591,109592,109593,109595,109596,109597,109598,109599,116328,123043,123125,123203,123204,123600,123673,126316,127694],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:515","source_release":"retrieved-2026-09-12","summary":"Dermoid sinuses and cysts have been described in dogs from several breeds. Hillbertz and Andersson (2006) reported that in the Rhodesian ridgeback population, dogs with the autosomal dominant ridge are predisposed to dermoid sinuses. Salmon Hillbertz et al. (2007) identified the causative mutation for the autosomal dominant dorsal hair ridge in Rhodesian and Thai Ridgeback dogs and proposed that \"the mutation predisposes to dermoid sinus with low penetrance in duplication heterozygotes and with high penetrance in homozygotes.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Retinal detachment","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":275,"omia_phene_id":518,"omia_record_id":"OMIA:000275-9615","publication_ids":[110604,125219],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:518","source_release":"retrieved-2026-09-12","summary":"Genetics Committee of the American College of Veterinary Opthalmologists (2021): Retinal detachment is \"a separation of the neurosensory retina from the retinal pigment epithelium.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Diabetes","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":277,"omia_phene_id":521,"omia_record_id":"OMIA:000277-9615","publication_ids":[19065,40122,43912,43992,45307,45514,49501,51677,52359,66115,66868,66980,73557,74206,78143,78144,78289,79217,79755,82324,84694,87839,89178,90479,92176,93623,100464,100573,100650,101908,101964,117317,117393,123072,126582],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:521","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Diabetes insipidus","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":278,"omia_phene_id":524,"omia_record_id":"OMIA:000278-9615","publication_ids":[18005,51166,60791,61391,62106,71231,84575,86739,88785,89658,102634],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:524","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Diabetes mellitus","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"In a textbook example of investigating the heritability and mode of inheritance of a disorder, Cai et al. (2019) estimated heritability of diabetes mellitus (DM) in American Eskimo Dogs (AED) to be 0.62 (95% posterior interval 0.01-0.99) and the mode of inheritance to be \"polygenic, with no evidence for a single gene of large effect.\" The low precision of the heritability estimate is due to the relatively small numbers of animals available, namely \"71 AED without DM, 47 AED with an unknown phenotype, and 38 AED with spontaneous DM\".\r\nIn another textbook example of investigating the heritability and mode of inheritance of a disorder, Mui et al. (2020) reported that \"Heritability of diabetes in Australian Terriers was estimated at 0.18 (95% confidence interval 0.0-0.67). There was no significant difference in the effect of males and females on disease outcome. Complex segregation analysis suggested that the mode of diabetes inheritance in Australian Terriers is polygenic, with no evidence for a large effect single gene influencing diabetes.\"","mondo_terms":[],"name":"","omia_group_id":279,"omia_phene_id":527,"omia_record_id":"OMIA:000279-9615","publication_ids":[7951,11036,12372,14698,36597,43489,48608,52951,59100,59102,59108,59180,59262,59383,59784,60242,62856,63784,65081,67447,68499,69054,72227,73202,75760,76768,77278,80927,81135,81552,81873,83198,86875,87336,88981,89310,89829,90293,91840,91992,93855,94805,97054,100891,101924,101963,101966,101974,102597,102627,103066,103285,103430,104530,104685,106137,106164,106933,107001,107092,107193,107200,107202,107579,107607,107618,108329,108330,108332,109757,109758,114166,116331,116872,117853,120054,120359,120477,120884,120885,120886,120965,121348,121362,121378,121379,122427,123106,123554,123839,124218,124253,124294,124296,124365,124368,124432,124536,124549,124590,124599,125366,126876,127209,128318,128959,132082,133000,133112],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:527","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Dwarfism, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":299,"omia_phene_id":551,"omia_record_id":"OMIA:000299-9615","publication_ids":[8195,8381,9781,32048],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:551","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Dwarfism with anaemia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":300,"omia_phene_id":560,"omia_record_id":"OMIA:000300-9615","publication_ids":[944,5075,7944,8364,129498],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:560","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Ocular-skeletal dysplasia (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":301,"omia_phene_id":561,"omia_record_id":"OMIA:000301-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:561","source_release":"retrieved-2026-09-12","summary":"Redundant phene, retained for data consistency. References previously listed here have been moved to  OMIA:001522-9615 : Oculoskeletal dysplasia 1 and OMIA:001523-9615 : Oculoskeletal dysplasia 2 [25/05/204]","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Czechoslovakian Wolfdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200402"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Karelian Bear Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200754"},{"name":"Saarloos Wolfhond (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201158"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pituitary hormone deficiency, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":307,"omia_phene_id":569,"omia_record_id":"OMIA:000307-9615","publication_ids":[1923,4820,4897,5126,7889,7941,8062,9417,9779,10249,23058,43934,79132,80283,87325,89030,91807,92229,100988,106414,110440,110441,110442,110443,111881,111882,111883,111884,111885,112875,112876,112884,116379,120665,121208],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:569","source_release":"retrieved-2026-09-12","summary":"see also OMIA entries that refer to gene-relaed forms of pituitary dwarfism, e.g.  OMIA:002315-9615 : Dwarfism, pituitary, POU1F1-related in Canis lupus familiaris and OMIA:002314-9615 : Dwarfism, pituitary, LHX3-related in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ectropion","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":325,"omia_phene_id":590,"omia_record_id":"OMIA:000325-9615","publication_ids":[62895,81103,117385,125219,130253],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:590","source_release":"retrieved-2026-09-12","summary":"Genetics Committee of the American College of Veterinary Opthalmologists (2021): Ecrtopion is \"a conformational defect resulting in eversion of the eyelid margin, which may cause ocular irritation due to exposure. It is likely that ectropion is influenced by several factors defining the skin and other structures, which make up the eyelids, orbital contents, and conformation of the skull.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Elbow disease","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":329,"omia_phene_id":596,"omia_record_id":"OMIA:000329-9615","publication_ids":[10830,22805,51670,58162,58246,67817,71901,72054,73869,117519,122033,122674,122955,123938],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:596","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Elbow dysplasia","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Baers et al. (2019) conducted a quantitative genetic analysis of \"elbow data from 130,117 dogs over 2 years old representing 17 breeds . . . obtained from the database of the Orthopedic Foundation for Animals\". They reported \"Heritability estimates for unilateral elbow dysplasia varied between breeds (ranging from 0.01 to 0.36) and were similar between the left and right elbows. The estimated genetic correlation between disease in the left and right elbow ~1 in the majority of breeds\".","mondo_terms":[],"name":"","omia_group_id":330,"omia_phene_id":597,"omia_record_id":"OMIA:000330-9615","publication_ids":[7291,37760,43478,46755,51584,69748,70386,71901,76593,78785,80235,80310,80341,80815,80848,82918,83180,86152,87418,88017,88825,91314,91480,92229,92870,94700,98575,102450,107096,107571,107620,108322,108434,108607,108612,108614,108616,108633,108937,108939,108942,108943,109403,109414,109455,109496,109843,109844,109846,109851,109852,109856,109858,109860,109863,109889,110110,110246,110248,110260,112091,112258,112907,113155,113560,113589,114041,114091,114165,114173,115026,115120,115537,116324,116373,116374,116613,116788,117627,118049,118096,118117,118821,119015,120408,120444,122333,123360,124836,125025,126291,127176,128407,128835,131154,132113,132439,133361],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:597","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Elbow luxation","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":331,"omia_phene_id":598,"omia_record_id":"OMIA:000331-9615","publication_ids":[36865,71901,85671,94225,107243,124508],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:598","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Elbow subluxation","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":332,"omia_phene_id":599,"omia_record_id":"OMIA:000332-9615","publication_ids":[45248,71901],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:599","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Endotoxin shock","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":336,"omia_phene_id":603,"omia_record_id":"OMIA:000336-9615","publication_ids":[34500],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:603","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Anatolian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200062"},{"name":"Chinese Shar-Pei (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200351"},{"name":"Pug (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201089"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Entropion","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":337,"omia_phene_id":604,"omia_record_id":"OMIA:000337-9615","publication_ids":[16259,62895,86263,116313,117385,118026,118027,118028,124280,124441,125219,126554,126596,126600,126602,130253,130795,130797],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:604","source_release":"retrieved-2026-09-12","summary":"Genetics Committee of the American College of Veterinary Opthalmologists (2021): Entropion is \"a conformational defect resulting in inversion of the eyelid margin which may cause ocular irritation. It is likely that entropion is influenced by several factors defining the skin and other structures, which make up the eyelids, orbital contents, and conformation of the skull.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Belgian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200144"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200375"},{"name":"Drentsche Patrijshond (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200453"},{"name":"Finnish Spitz (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200526"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Petit Basset Griffon Vendeen (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201009"},{"name":"Siberian Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201233"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Epilepsy","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Viitmaa et al. (2013) estimated the heritability of idiopathic epliepsy in Finnish Spitz dogs to be 22%.","mondo_terms":[],"name":"","omia_group_id":344,"omia_phene_id":619,"omia_record_id":"OMIA:000344-9615","publication_ids":[6477,7420,7649,8966,9111,9754,9755,17995,44471,58385,63354,66764,68834,69646,71364,72213,74315,74317,76563,79694,79699,81757,81765,81883,85119,85502,86150,86486,86987,87225,87793,87874,88459,89359,89702,90183,91200,91716,93013,93382,99454,99474,100384,101331,102289,105447,106966,107175,107460,107591,107684,107955,108797,108811,109204,109329,109330,109331,109332,109333,109334,109908,109910,110168,110232,110307,110446,110544,110789,110790,111255,111842,111895,112158,112188,112387,112388,112473,112551,112659,112676,112951,113475,113760,113799,113907,113909,113914,114033,114091,114160,114169,114171,114376,114664,114781,114855,114955,114966,114990,115345,115353,115403,115406,115429,115445,115494,115495,115526,115595,115797,115890,115984,116033,116114,116208,116284,116285,116305,116324,116374,116806,117301,117388,117969,118049,120020,121073,121074,121724,121988,122165,123616,123871,123984,124129,124224,124356,124366,124377,124378,124447,124448,124846,124874,125084,125347,125605,125627,126169,126495,126496,126606,126607,126794,126796,127168,127765,127977,128428,128554,128646,128764,128897,129056,129445,129567,129927,130138,130598,130872,130874,132805,133034,133037,133069,133180,133231],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:619","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Exostoses, multiple","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":354,"omia_phene_id":634,"omia_record_id":"OMIA:000354-9615","publication_ids":[64237,114669,115096],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:634","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Eye defects","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":358,"omia_phene_id":641,"omia_record_id":"OMIA:000358-9615","publication_ids":[9081,29072,29162,60367,64394,71064,73053,73086,73700,83686,83911,86445,102459,124124,124207,124212,125219,126748,129745,132488],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:641","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Airedale Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200008"},{"name":"Alaskan Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200015"},{"name":"Alaskan Klee Kai (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200016"},{"name":"Alaskan Malamute (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200017"},{"name":"American Foxhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200047"},{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Catahoula Leopard Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200298"},{"name":"Dachshund, Miniature Smooth-Haired (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200410"},{"name":"English Foxhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200490"},{"name":"Finnish Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200522"},{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"},{"name":"German Wirehaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200602"},{"name":"Giant Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200604"},{"name":"Harrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200660"},{"name":"Irish Water Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200705"},{"name":"Japanese Spitz (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200740"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Papillon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200985"},{"name":"Redbone Coonhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201132"},{"name":"Scottish Deerhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201195"},{"name":"Sealyham Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201200"},{"name":"Welsh Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201411"},{"name":"Whippet (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201421"}],"characterised":true,"characterised_year":2005,"clinical_features":"Ramirez et al. (2019) report that the disease results in mild to moderate bleeding propensity, but in most cases it is identified by chance when regular coagulation screenings result in extended prothrombin times (PT). Kaae et al. (2008) report that clinical presentation includes subcutaneous hematoma formation, blood loss anemia, and a history of abnormal bleeding. IT thanks DVM student Rami Mazraani, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Factor VII deficiency","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009211","iri":"http://purl.obolibrary.org/obo/MONDO_0009211","label":"congenital factor VII deficiency"}],"name":"","omia_group_id":361,"omia_phene_id":647,"omia_record_id":"OMIA:000361-9615","publication_ids":[6053,31342,43824,74575,86400,93115,93116,93117,93118,93119,93120,105762,107768,107772,108225,108324,109093,109456,111187,111188,111189,111190,111191,111192,111193,111194,111195,111196,111880,113184,114828,116893,117470,117787,118018,119105,122523,123452,124163,130426],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:647","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Factor X deficiency","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":362,"omia_phene_id":648,"omia_record_id":"OMIA:000362-9615","publication_ids":[111175,112328,112329,112331,113184,116844],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:648","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"},{"name":"Great Pyrenees (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200629"},{"name":"Kerry Blue Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200764"}],"characterised":true,"characterised_year":2007,"clinical_features":"Congenital Factor XI deficiency is characterised by abnormal haemostasis and excessive bleeding, usually following trauma or surgery. Clinical signs of abnormal haemostasis and excessive bleeding include bruising, epistaxis, and menorrhagia (Fogh and Fogh, 1988). Affected dogs have significantly decreased Factor XI activity levels (less than 10%), heterozygous/carrier dogs have decreased Factor XI activity levels, (25-50%) but appear to be asymptomatic (Fogh and Fogh, 1988).\r\n\r\nIT thanks DVM student Su Han Thia, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Factor XI deficiency","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0012897","iri":"http://purl.obolibrary.org/obo/MONDO_0012897","label":"congenital factor XI deficiency"}],"name":"","omia_group_id":363,"omia_phene_id":650,"omia_record_id":"OMIA:000363-9615","publication_ids":[54352,107769,110461,113184,114828,123444,124795],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:650","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Factor XII deficiency","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009315","iri":"http://purl.obolibrary.org/obo/MONDO_0009315","label":"congenital factor XII deficiency"}],"name":"","omia_group_id":364,"omia_phene_id":653,"omia_record_id":"OMIA:000364-9615","publication_ids":[23152,94237,111181,113184,114828,122436],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:653","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Border Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200194"},{"name":"Irish Wolfhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200706"},{"name":"Norwegian Elkhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200955"},{"name":"Whippet (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201421"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Fanconi syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":366,"omia_phene_id":655,"omia_record_id":"OMIA:000366-9615","publication_ids":[527,44006,54294,60994,71284,110073,110074,110078,110079,112124,112125,115922,115923,117927,122095,124801,127710,127711],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:655","source_release":"retrieved-2026-09-12","summary":"Fanconi syndrome is a proximal renal tubular defect affecting the resorption of various substances filtered by the glomeruli. In addition to genetic forms, acquired proximal renal tubulopathies are also called Fanconi syndrome and have been reported in dogs to be related to excessive ingestion of jerky treats, gentamicin therapy, primary hypoparathyroidism, ethylene glycol toxicity, presumed pyelonephritis and copper storage hepatopathy. This entry lists references to (suspected) genetic and acquired forms of the disease. Information relating to inherited Fanconi Syndrome in Basenji dogs due to a mutation in the FAN1 gene have been moved to 'OMIA:002683-9615 : Fanconi syndrome, FAN1-related in Canis lupus familiaris' [2/5/2023]","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200638"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Focal metatarsal fistula","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":389,"omia_phene_id":682,"omia_record_id":"OMIA:000389-9615","publication_ids":[36603,123718],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:682","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"}],"characterised":true,"characterised_year":1996,"clinical_features":"Affected dogs appear clinically normal until around 4-6 months of age, when behavioral signs are first noticeable. Signs include progressive ataxia, proprioceptive dysfunction, change in temperament, dysphagia, dysphonia, loss of learned behavior, muscle wasting, and apparent blindness. Affected dogs usually die or are euthanized by 3-4 years of age (Skelly et al., 1996, Fletcher et al., 2011). Bone marrow transplantation therapy slowed progression and decreased severity of clinical signs, but only if performed at an early age (Taylor et al., 1992).","defect":true,"group_name":"Fucosidosis, alpha","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":396,"omia_phene_id":693,"omia_record_id":"OMIA:000396-9615","publication_ids":[7808,9828,12994,14722,17464,21036,27400,28199,31998,34648,66201,66966,71530,76668,80650,85489,85490,85491,85492,85493,89524,110562,112756,112757,112758,112759,112760,112761,112762,112763,112764,112765,112766,112991,116933,120540,127691,127692,127693,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:693","source_release":"retrieved-2026-09-12","summary":"Alpha fucosidosis is a lysosomal disease characterized by severe, progressive neurological degeneration. Affected dogs usually die or are euthanized by 3-4 years of age. There is a test available. Therapeutic methods are under investigation. ","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Galactosialidosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":400,"omia_phene_id":695,"omia_record_id":"OMIA:000400-9615","publication_ids":[41258],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:695","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Gangliosidosis, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":401,"omia_phene_id":698,"omia_record_id":"OMIA:000401-9615","publication_ids":[7187,10208],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:698","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Alaskan Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200015"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"},{"name":"Portuguese Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201077"},{"name":"Shiba Inu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201220"}],"characterised":true,"characterised_year":2000,"clinical_features":"Affected dogs generally have proportional dwarfism, which is easily observed in the Alaskan husky, and all develop progressive cerebellar dysfunction and limb weakness. Signs include weight loss, ataxia, wide-based gait, decreased proprioception, intention tremor of the head, ataxia, hypermetria, dysmetria, internal strabismus, and positional nystagmus. Signs begin around 6 to 8 weeks of age, and are clearly noticeable by 7 months of age. Abnormal endochondral ossification of vertebral epiphyses was visible in radiographs of 5.5 month old affected Alaskan huskies. Affected dogs occasionally have an increase in serum ALP. Coarse facial features are seen in affected English springer spaniels (Müller et al., 2001, Alroy et al., 1992). Bone marrow transplantation therapy was attempted but ineffective in affected Portugese water dogs (O’Brien et al., 1990).","defect":true,"group_name":"Gangliosidosis, GM1","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":402,"omia_phene_id":702,"omia_record_id":"OMIA:000402-9615","publication_ids":[10573,28461,31321,33088,59086,82313,92548,92930,93722,102981,105767,107281,107557,107884,108983,108988,108989,110262,110263,110264,110265,110266,110267,110268,110269,110270,110271,110272,110273,110274,110275,112582,112991,113599,113601,114615,114989,115447,116393,123442,125285,126403,128324,132788],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:702","source_release":"retrieved-2026-09-12","summary":"GM1 gangliosidosis is a lysosomal storage disease caused by beta galactosidase deficiency and characterized by progressive neurological deterioration. It is caused by mutations in GLB1, although the mutations differ by breed. There is a genetic test available.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Gangliosidosis, GM2, generic","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":403,"omia_phene_id":705,"omia_record_id":"OMIA:000403-9615","publication_ids":[1984,3805,110267,110321,110323,110324,112532,112533,115447,116393,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:705","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Gastric dilatation volvulus syndrome","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":404,"omia_phene_id":707,"omia_record_id":"OMIA:000404-9615","publication_ids":[47939,48316,61630,63759,65030,67548,67867,67954,72039,72826,74277,76655,79314,79413,79604,80838,81105,82275,82384,85981,86653,89123,89880,94265,94323,95080,99402,106277,106493,107195,108941,114091,114092,114093,114094,114095,114096,114097,114098,114099,114100,114101,114102,114103,114104,114105,114106,114107,114108,114109,114110,114680,115042,116035,116324,117116,117121,117122,117123,117124,117125,117126,117127,117175,117248,117316,117704,118049,118128,122726,124102,132034],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:707","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Gaucher disease, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":405,"omia_phene_id":708,"omia_record_id":"OMIA:000405-9615","publication_ids":[2601,109729,109730,126375],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:708","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Gingival hypertrophy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":409,"omia_phene_id":713,"omia_record_id":"OMIA:000409-9615","publication_ids":[109923],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:713","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Glaucoma, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":411,"omia_phene_id":715,"omia_record_id":"OMIA:000411-9615","publication_ids":[643,7008,8239,9798,15739,19411,52340,61202,62675,68082,100360,107627,108996,113859,113866,113867,113870,113871,113872,113873,113874,113875,113876,113878,113879,113880,113881,114328,114411,114737,114738,114739,114740,114741,115644,116307,116665,116789,117009,123695,123876,124203,124209,125219,126648,127059,128645,131143,132386],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:715","source_release":"retrieved-2026-09-12","summary":"Genetics Committee of the American College of Veterinary Opthalmologists (2021): Glaucoma is \"characterized by an elevation of intraocular pressure (IOP) which causes optic nerve and retinal degeneration and results in blindness. Diagnosis and classification of glaucoma requires tonometry and gonioscopy, which are not part of a routine eye certification examination.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Glomerulonephritis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":413,"omia_phene_id":717,"omia_record_id":"OMIA:000413-9615","publication_ids":[33731,60429,61474,67973,77392,93714,97794,98255,98573,122381,122382,133399],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:717","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Glomerulonephropathy","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":414,"omia_phene_id":718,"omia_record_id":"OMIA:000414-9615","publication_ids":[47719,70683,90026,107462,108972,122343,130377,133399],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:718","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Glossopharyngeal defect","inheritance":{"code":"RL","name":"Autosomal recessive lethal"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":415,"omia_phene_id":719,"omia_record_id":"OMIA:000415-9615","publication_ids":[111313],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:719","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"German Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201454"},{"name":"Maltese Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200859"}],"characterised":true,"characterised_year":1997,"clinical_features":"Affected animals are hypoglycemic if fasted, and develop lactic acidosis, hypertriglyceridemia, and hyperuricemia (Specht et al., 2011). Signs include severe hepatomegaly, poor body condition, lethargy, failure to thrive, coma, and death.","defect":true,"group_name":"Glycogen storage disease Ia","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009287","iri":"http://purl.obolibrary.org/obo/MONDO_0009287","label":"glycogen storage disease due to glucose-6-phosphatase deficiency type IA"}],"name":"","omia_group_id":418,"omia_phene_id":723,"omia_record_id":"OMIA:000418-9615","publication_ids":[62111,76704,95127,101592,110309,110310,110311,110312,114045,114046,114047,114048,118052,118748,120387,121122,122576,123599,124570,124974],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:723","source_release":"retrieved-2026-09-12","summary":"Glycogen storage disease I is a severe disorder of glycogen metabolism characterized by glycogen accumulation, particularly in the liver. Signs include severe hepatomegaly, failure to thrive, coma, and death. There is a genetic test available.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Finnish Lapphund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200523"},{"name":"Lapponian Herder (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200814"},{"name":"Swedish Lapphund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201315"}],"characterised":true,"characterised_year":2013,"clinical_features":"Affected dogs exhibit regurgitation and recurrent vomiting of mucus. Constant panting, dyspnoea, dysphonia, and dysphagia are evident at 13 months (Seppälä et al., 2013). Loss of condition, progressive muscular weakness, and exercise intolerance may become apparent (Almodóvar-Payá et al., 2020). Glycogen storage disease II (GSD II) in dogs may lead to decreases in ALP, and increases in ALAT, BUN, and glucose levels (Walvoort et al., 1984). Biochemical studies demonstrated a severe deficiency of acid α-glucosidase activity in heart, skeletal muscle, and liver fibroblasts. Glycogen content was substantially elevated in the heart and skeletal muscle (Walvoort et al., 1982). Haematology shows increases in monocyte count and increases in mean platelet volume at 18 months (Seppälä et al., 2013). Radiographs of affected dogs show dilatation of the oesophagus and cardiac enlargement; ultrasound indicates liver changes (Seppälä et al., 2013). GSD II is often associated with clinical heart disease and myocardial hypertrophy (Walvoort et al., 1984). [IT thanks DVM student Jed Stevens, who provided the basis of this contribution in April 2022]","defect":true,"group_name":"Glycogen storage disease II","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":419,"omia_phene_id":726,"omia_record_id":"OMIA:000419-9615","publication_ids":[7503,41629,110314,110315,110316,110317,110318,110319,114044,121122,123367,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:726","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200038"},{"name":"Deutscher Wachtelhund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200440"},{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"Whippet (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201421"}],"characterised":true,"characterised_year":1996,"clinical_features":"Presenting signs include muscle cramps, exercise intolerance, and a mild increase in creatine kinase. Affected dogs can also present in hemolytic crisis with hemoglobinuria and bilirubinuria after excessive excitement, exercise, or hyperthermia. During a crisis, the dog can develop severe anemia, icterus, fever, lethargy, and anorexia. This anemia is regenerative, usually resolving within several days. Affected animals have a normal life span, usually maintaining a normal PCV but persistent bilirubinuria and reticulocytosis. Variable muscle wasting, hepatosplenomegaly, and increased total body iron stores have also been reported (Gerber et al., 2009).","defect":true,"group_name":"Glycogen storage disease VII","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009295","iri":"http://purl.obolibrary.org/obo/MONDO_0009295","label":"glycogen storage disease VII"}],"name":"","omia_group_id":421,"omia_phene_id":729,"omia_record_id":"OMIA:000421-9615","publication_ids":[14452,20442,20770,28305,29420,32645,50183,53806,69171,88437,96977,107367,107368,107369,109415,110285,111518,112386,112645,117630,121122,127595],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:729","source_release":"retrieved-2026-09-12","summary":"Phosphofructokinase (PFK) deficiency is an inherited enzyme deficiency causing hemolytic crises and exertional myopathy. Genetic tests are available to detect causative mutations, which have beend identical in the English springer spaniel, American cocker spaniel, Whippet and Wachtelhund. \r\n\r\nEdited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT and updated by IT [April 2022]","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Granule cell type cerebellar hypoplasia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":427,"omia_phene_id":733,"omia_record_id":"OMIA:000427-9615","publication_ids":[38780],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:733","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Haemolytic anaemia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":430,"omia_phene_id":737,"omia_record_id":"OMIA:000430-9615","publication_ids":[8269,8313,9101,9124,32926,114305,116247],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:737","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Haemolytic anaemia, autoimmune","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Immune mediated haemolytic anaemia","omia_group_id":432,"omia_phene_id":740,"omia_record_id":"OMIA:000432-9615","publication_ids":[9821,13802,16563,29426,36240,61224,71011,72360,73682,74879,79505,79730,80187,87358,87402,87559,92037,107018,107365,111624,111625,111626,111627,111628,116325,117363,124478,124479,125163,126022,127906,130183,130724,132355],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:740","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Basenji (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200120"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Haemolytic anaemia, nonspherocytic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":433,"omia_phene_id":741,"omia_record_id":"OMIA:000433-9615","publication_ids":[1942,19659],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:741","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Haemolytic anaemia, primary autoimmune","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":434,"omia_phene_id":742,"omia_record_id":"OMIA:000434-9615","publication_ids":[8958,44802,100838,109212],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:742","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Haemolytic uremic 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+{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hepatic encephalopathy, portosystemic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":816,"omia_phene_id":766,"omia_record_id":"OMIA:000816-9615","publication_ids":[51078,52683,122178,122179],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:766","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hepatic fibrosis, idiopathic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":454,"omia_phene_id":767,"omia_record_id":"OMIA:000454-9615","publication_ids":[41810],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:767","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hernia, diaphragmatic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":459,"omia_phene_id":779,"omia_record_id":"OMIA:000459-9615","publication_ids":[8889,9395,77803,79906,81847,84453,102787],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:779","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hernia, hiatal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":461,"omia_phene_id":786,"omia_record_id":"OMIA:000461-9615","publication_ids":[9980,14537,77803,83205,83212,99802,102761,102864],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:786","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hernia, inguinal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":462,"omia_phene_id":789,"omia_record_id":"OMIA:000462-9615","publication_ids":[12864,13528,35179,69277,83266],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:789","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hernia, oesophageal hiatal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":463,"omia_phene_id":794,"omia_record_id":"OMIA:000463-9615","publication_ids":[42335],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:794","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hernia, umbilical","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":465,"omia_phene_id":798,"omia_record_id":"OMIA:000465-9615","publication_ids":[9375,13528,35179,127232],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:798","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hip dysplasia","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"This disorder is a classic example of a multifactorial trait; it is definitely familial, but is equally definitely NOT due to a single gene. Heritability of liability has been estimated on many occasions. The most comprehensive review of CHD heritability published to date is by Janutta and Distl (2006) who present 105 estimates ranging from 0.00 to 0.93, based on 125,166 dogs, with an average of around 0.35. The most comprehensive large-scale analysis of CHD data is the one by Oberbauer et al. (2017) who estimated the heritability of CHD (scored according to the OFA criteria [see below] on 1,056,852 dogs representing 60 breeds) as ranging from 0.46 to 0.75, with an average of 0.57.","mondo_terms":[],"name":"Canine hip dysplasia","omia_group_id":473,"omia_phene_id":815,"omia_record_id":"OMIA:000473-9615","publication_ids":[2207,7010,7108,7217,7293,7432,7520,7671,7718,7820,7905,8116,8149,8259,8456,8717,8898,9000,9048,9174,9239,9264,9668,9720,9760,9778,9810,9865,11307,12613,13384,13480,14178,15240,15814,16324,17910,17969,18282,18415,19986,20433,21180,21372,22253,23165,23317,24124,24404,25435,26026,26461,26497,26834,27111,27539,27568,27872,29436,30984,32271,32534,33422,33971,34245,34559,36199,36902,37760,37802,38708,38787,39106,39138,39921,40925,40929,41155,42891,43764,43884,43910,44114,45631,45637,45949,47220,47625,47946,48043,48401,49160,49819,50247,50385,50869,51205,52745,54197,54222,55503,57341,57350,59725,60353,61403,61404,62773,64569,64640,64661,65211,65221,65276,65506,66520,66914,67550,68502,68950,69219,69256,69444,69509,69524,69617,69624,70336,70392,70824,71256,71338,71349,71558,71594,71713,71901,71959,72632,72641,72689,73279,73368,73374,73392,74201,74364,74390,74483,74506,74510,74519,74529,74530,74539,74548,74562,74581,74930,76260,76302,76411,76883,76918,77004,77352,77702,77793,78263,78498,78580,78587,78866,79109,80574,81170,81318,81621,81841,81982,82258,82273,82391,82455,83060,84070,84116,84351,84765,84804,85202,85244,85260,86152,86341,86793,87294,87631,88233,88602,89673,89681,90321,91330,91450,91457,91480,91596,91785,92094,92229,92272,92408,92483,92660,92870,92980,93331,93641,93987,94118,94561,94788,94789,94817,95408,95721,96266,96450,97747,98086,98575,98600,98694,98785,98927,99070,99253,99269,99560,99690,99749,99990,100006,101565,102023,102130,102297,102385,102450,104606,105404,105454,105521,106946,106980,107095,107134,107188,107274,107315,107370,107377,107378,107551,107555,107561,107569,107570,107681,107682,108059,108062,108063,108064,108065,108066,108067,108068,108069,108070,108071,108086,108087,108088,108089,108090,108093,108094,108095,108096,108098,108099,108100,108102,108103,108104,108105,108106,108107,108108,108109,108110,108111,108112,108113,108114,108115,108116,108117,108118,108119,108120,108121,108122,108123,108124,108125,108126,108127,108128,108129,108130,108131,108132,108133,108134,108135,108136,108137,108138,108139,108140,108141,108142,108143,108144,108145,108146,108147,108148,108150,108151,108152,108153,108154,108155,108156,108157,108158,108159,108160,108161,108162,108163,108164,108165,108166,108167,108168,108169,108170,108171,108172,108173,108174,108175,108176,108177,108178,108179,108180,108181,108182,108183,108184,108185,108186,108187,108188,108189,108190,108191,108192,108193,108194,108195,108196,108197,108198,108199,108200,108201,108202,108204,108205,108206,108207,108208,108297,108299,108307,108308,108309,108337,108482,108483,108484,108487,108488,108489,108490,108491,108492,108493,108494,108495,108496,108498,108499,108500,108501,108502,108503,108504,108505,108508,108509,108510,108511,108579,108597,108599,108600,108601,108602,108603,108604,108605,108606,108608,108609,108610,108611,108612,108613,108614,108615,108617,108618,108619,108620,108621,108622,108623,108624,108625,108626,108627,108628,108629,108630,108631,108632,108634,108635,108636,108637,108638,108639,108640,108641,108930,108936,108937,108938,108939,108940,108941,108943,108944,108945,109008,109009,109010,109113,109114,109115,109116,109117,109118,109119,109120,109121,109175,109239,109509,109510,109514,109843,109924,109925,109926,109927,109928,109929,109930,110037,110088,110089,110109,110110,110212,110246,110248,110260,110289,110352,110410,110553,110577,110954,111844,111845,112091,112194,112511,112512,112513,112514,112515,112516,112517,112518,112578,112594,112907,113155,113337,113338,113588,113589,113923,113924,113925,113926,114091,114154,114173,114203,114264,114265,114317,114395,114397,114398,114456,114457,114623,114782,114989,115026,115071,115119,115120,115235,115343,115382,115460,115537,115556,115634,115645,115646,115653,115684,115743,115788,115794,115795,115826,115830,115839,115941,115942,115971,116113,116299,116369,116370,116371,116372,116373,116374,116613,117205,117391,117513,117545,117552,117554,117555,117576,117577,117627,117661,117747,117773,117835,117836,117841,117872,117989,117995,118049,118069,118070,118083,118088,118096,118111,118118,118632,119239,120390,120401,120444,120666,120692,120800,120824,120887,121168,122033,122083,122205,122281,122289,122305,122606,122916,123520,123938,124032,124183,124251,124252,124277,124360,124566,124876,124893,124922,124996,125025,125406,125699,125707,125825,125993,126149,126636,126795,127077,128107,128190,128407,128834,128925,129238,129369,129990,130562,130726,131168,132113,132896,133475],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:815","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hodgkin disease","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":476,"omia_phene_id":821,"omia_record_id":"OMIA:000476-9615","publication_ids":[37366,123719],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:821","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hydrocephalus","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":487,"omia_phene_id":837,"omia_record_id":"OMIA:000487-9615","publication_ids":[41282,66338,69375,79485,108519,109444,127232,130232,133282],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:837","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cushing syndrome, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":494,"omia_phene_id":851,"omia_record_id":"OMIA:000494-9615","publication_ids":[14698,22061,39685,40607,42868,43489,45258,47606,50906,50953,51175,51353,56037,57352,58319,59702,60032,60794,62958,65826,66475,67447,67462,71080,73197,73235,73437,73443,73559,73560,73562,73911,76391,76421,76424,76790,76993,77260,77322,77854,77971,78344,78984,80190,80984,80985,81135,81156,81366,81616,81843,81873,82981,84274,85163,85474,87195,87202,87554,88400,88435,88512,88560,88587,88975,89138,89310,89525,90377,91071,91617,94301,94373,95759,98141,99101,100357,100375,101134,101552,101575,101610,102918,102993,102994,103015,104098,105188,106137,106941,106990,107318,107548,107614,107621,107632,107734,108074,109468,109469,112029,112031,114091,114544,115884,116851,117024,117071,117086,117353,117416,117517,120019,120996,122466,123827,124091,124905,124977,125315,125794,126072,128689,129226,130555,130648,130756,130875,131007,132087,133494],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:851","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hyperbilirubinaemia, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":495,"omia_phene_id":853,"omia_record_id":"OMIA:000495-9615","publication_ids":[17901,83068],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:853","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypereosinophilic syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":502,"omia_phene_id":863,"omia_record_id":"OMIA:000502-9615","publication_ids":[38924,98563,98583,117129],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:863","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"Scottish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201198"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hyperkinesis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Scottie cramp; Scotty cramp","omia_group_id":503,"omia_phene_id":864,"omia_record_id":"OMIA:000503-9615","publication_ids":[6489,7303,8564,9145,39648,108783,108785],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:864","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hyperlipoproteinaemia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1210,"omia_phene_id":866,"omia_record_id":"OMIA:001210-9615","publication_ids":[42332,43212,43456,129758],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:866","source_release":"retrieved-2026-09-12","summary":"See also: OMIA:000514-9615 : Hypertriglyceridaemia in Canis lupus familiaris (dog)","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Keeshond (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200759"}],"characterised":true,"characterised_year":null,"clinical_features":"Across genetic and non-genetic forms of the disease, the most common clinical signs associated with canine hyperparathyroidism include polyuria (Thompson et al., 1984; Gear et al.. 2005; Sakals et al., 2010; Jores and Kessler, 2011), polydipsia (Thompson et al., 1984; Gear et al., 2005; Sakals et al., 2010; Jores and Kessler, 2011) stiff gait (Jores and Kessler, 2011) and weakness (Thompson et al., 1984; Sakals et al., 2010). Less common clinical signs include anorexia (Sakals et al., 2010), stunted growth (Thompson et al., 1984) and reduced activity (Jores and Kessler, 2011). Changes in haematology and biochemistry have been noted, with many published case reports indicating mild to extensive hypercalcaemia (Thompson et al., 1984; Sakals et al., 2010; Jores and Kessler, 2011), hypophosphatemia (Thompson et al., 1984; Jores and Kessler, 2011) and elevated serum parathyroid hormone (Sakals et al., 2010; Jores and Kessler, 2011) to be the key changes associated with canine hyperparathyroidism.\r\nIT thanks DVM student Stephanie Shields, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Hyperparathyroidism","inheritance":null,"inheritance_text":"Genetic forms of primary hyperparathyroidism include a suspected recessive form with early onset in German Shepherd puppies (Thompson et al., 1984) and an autosomal dominant form with adult onset in Keeshond (Goldstein et al., 2007).","mondo_terms":[{"id":"MONDO:0001741","iri":"http://purl.obolibrary.org/obo/MONDO_0001741","label":"hyperparathyroidism"}],"name":"This entry includes information about primary hyperparathyroidism (PHPT)","omia_group_id":508,"omia_phene_id":873,"omia_record_id":"OMIA:000508-9615","publication_ids":[67811,71119,86130,86432,95831,106955,106967,108516,109466,110292,110293,110294,110295,110296,110297,110298,110299,110300,114244,117394,120862,125179,125180,125181,126407],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:873","source_release":"retrieved-2026-09-12","summary":"This disorder occurs in many different forms, many of which are not inherited. Goldstein et al. (2008) report that the majority of cases of primary hyperparathyroidism in dogs are due to adenoma, and that malignant parathyroid carcinoma are considered rare. Breed predispositions have been reported and a neonatal form of hyperparathyroidism with a suspected autosomal recessive mode of inheritance has been reported in German Shepherd puppies (Thompson et al., 1984) and inherited hyperparathyroidism with adult onset and a suspected autosomal dominant mode of inheritance has been reported in Keeshond (Goldstein et al., 2007). A non-published DNA test is offered for Keeshond.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypertension","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":509,"omia_phene_id":874,"omia_record_id":"OMIA:000509-9615","publication_ids":[36853,42799,62376,70716,75180,76641,87663,117180,122445],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:874","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypertension, essential","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":510,"omia_phene_id":876,"omia_record_id":"OMIA:000510-9615","publication_ids":[40781],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:876","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cardiomyopathy, hypertrophic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":515,"omia_phene_id":882,"omia_record_id":"OMIA:000515-9615","publication_ids":[42841,68134,106226,109997,110000,114091,125564,126327,127469,128951,129819],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:882","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Tibetan Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201351"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Neuropathy, hypertrophic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":518,"omia_phene_id":885,"omia_record_id":"OMIA:000518-9615","publication_ids":[41595],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:885","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypoadrenocorticism","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":519,"omia_phene_id":886,"omia_record_id":"OMIA:000519-9615","publication_ids":[23970,37670,50910,52462,53669,54524,57489,60176,64168,65466,68085,71501,73448,73540,74326,78690,82351,82459,82920,88416,89135,91386,100754,104871,107027,107325,108541,108542,108543,108544,108706,108947,109213,109214,109215,109216,109217,113527,114091,114897,115663,117099,117118,117119,117311,117381,117524,118050,118062,118651,119014,121029,121131,122673,122734,123104,123573,123827,124690,124693,124694,124834,124905,125346,125635,126414,128435,128873,129610,130581,130894,132342,132650,132651,132756,133317],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:886","source_release":"retrieved-2026-09-12","summary":"See also OMIA:003051-9615 : Addison’s disease and multiple autoimmune syndrome, RESF1-related in Canis lupus familiaris (dog)","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypoadrenocorticism, primary","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":520,"omia_phene_id":887,"omia_record_id":"OMIA:000520-9615","publication_ids":[123573,126065],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:887","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypogonadism","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":522,"omia_phene_id":889,"omia_record_id":"OMIA:000522-9615","publication_ids":[42889],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:889","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Hypolipoproteinaemia (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":524,"omia_phene_id":890,"omia_record_id":"OMIA:000524-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:890","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Giant Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200604"},{"name":"Rat Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201125"},{"name":"Scottish Deerhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201195"},{"name":"Spanish Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201280"},{"name":"Tenterfield Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201342"},{"name":"Toy Fox Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201361"}],"characterised":true,"characterised_year":2003,"clinical_features":"Signs include growth retardation (dwarfism), epiphyseal dysplasia in the vertebrae and limbs, delayed dental eruption, delayed opening of eyes and ear canals, delayed haircoat maturation, thickened subcutis, lethargy, unresponsiveness, failure to suckle. Goiter, extremely low T4, and increased TSH are signs in Toy Fox Terriers, Rat Terriers, Tenterfield Terriers, and Spanish Water Dogs. \r\nOnset of signs is early (less than one week of age) in primary congenital hypothyroidism \r\nClinical signs of iodine toxicosis in fetal and early postnatal life are similar to those of congenital hypothyroidism but the two disorders are distinguished by different thyroid histology.","defect":true,"group_name":"Hypothyroidism, congenital","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"The mode of inheritance is autosomal recessive.","mondo_terms":[{"id":"MONDO:0010133","iri":"http://purl.obolibrary.org/obo/MONDO_0010133","label":"thyroid dyshormonogenesis 2A"}],"name":"Congenital hypothyroidism with goiter","omia_group_id":536,"omia_phene_id":904,"omia_record_id":"OMIA:000536-9615","publication_ids":[11118,13269,23058,36597,37086,43489,44236,46808,51875,54135,55212,57340,57342,61462,63378,63394,66812,67046,68213,70017,70770,71043,71459,71682,71906,72087,72986,72987,72995,72996,73000,73011,73020,73027,73042,73050,73059,73063,73076,73095,73096,73101,73105,73106,73111,73114,73119,73139,73141,73142,73152,73153,73154,76544,77315,78674,78783,79061,79132,79988,80929,81135,81381,81693,81880,85059,85379,87817,87819,96033,98150,98186,99766,99767,102084,102301,102940,104614,105336,106137,106512,107736,107737,109464,109465,109911,110115,110449,112983,113306,114091,115886,116016,116181,116308,116324,116705,117278,117310,117852,123280,123281,123282,123283,123284,123839,124905,126328,127217],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:904","source_release":"retrieved-2026-09-12","summary":"Congenital hypothyroidism (CH) is an endocrine disorder characterized by inadequate T4 levels early in life concurrent with signs of hypothyroidism. Disease can be primary (failure to make T4), which is due to abnormal thyroid development or function. Primary hypothyroidism often presents with goiter but can be due to thyroid dysgenesis. CH can be secondary (failure to make bioactive TSH), which is caused by abnormal pituitary development or function. CH can also be tertiary (failure to make TRH) due to abnormal hypothalamic function. \r\nSigns of CH with goiter include growth retardation (dwarfism), epiphyseal dysplasia in the vertebrae and limbs, and delay in maturation changes such as dental eruption, opening of eyes and ear canals, and growth of guard hairs. Other signs include thickened subcutis, lethargy, unresponsiveness, and failure to suckle. The disorder is lethal unless diagnosed and treated early. Goiter, extremely low T4, and increased TSH are signs in Toy Fox Terriers, Rat Terriers, Tenterfield Terriers, and Spanish Water Dogs. \r\nIn dogs likely causal variants have been described in at least two genes (TPO - described in this entry, and SLC5A5 - see 'OMIA002174-9615 Hypothyroidism, congenital dyshormonogenic, with goiter). Non-genetic forms of the condition are possible and may represent some of the case studies for which references are listed in this entry.\r\nThe mode of inheritance is autosomal recessive for TPO-related congenital hypothyroidism in dogs. Causative mutations in 3 terrier breeds and the Spanish water dog are all in the gene that codes for thyroid peroxidase (TPO), the enzyme responsible for irreversible binding of iodide to thyroglobulin. This process is known as organification of iodide, and it is a necessary step of thyroid hormone synthesis. If thyroid peroxidase activity is not present, the animal is unable to make T4 and presents with primary hypothyroidism. Goiter develops as thyroid cells undergo hypertrophy and hyperplasia due to unrelenting TSH stimulation.\r\nDNA-based tests are available to detect the TPO mutation in all 4 breeds.\r\nBreeding of carrier animals to each other is not recommended. If a carrier animal is bred to a homozygous normal animal, testing the offspring is advised. \r\n\r\nEdited by John C. Fyfe, D.V.M., Ph.D. (edited by IT 22/5/2022)","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypotrichosis, generic","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"There have been many isolated reports of this disorder, and it is impossible to tell whether they are alleleic or not. In the case of Chinese crested dogs, Robinson (1985) provided convincing evidence that hairlessness in this breed is a single-locus trait, and that hairless Chinese crested animals are heterozygous for an allele that is lethal when homozygous: matings among Chinese crested animals produced a ratio of normal to hairless much closer to 2:1 than 3:1.","mondo_terms":[],"name":"","omia_group_id":540,"omia_phene_id":913,"omia_record_id":"OMIA:000540-9615","publication_ids":[254,9183,12544,20884,31584,31817,34361,36088,38784,45380,46574,46653,62613,62633,64596,64609,70221,73180,73813,75449,77606,80022,83533,84278,87459,87724,89292,90673,94681,107261],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:913","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Immunodeficiency","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":550,"omia_phene_id":929,"omia_record_id":"OMIA:000550-9615","publication_ids":[51033,57262,74769,80400,89002,103144,133374],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:929","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Chinese Shar-Pei (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200351"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Immunoglobulin A deficiency","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":552,"omia_phene_id":931,"omia_record_id":"OMIA:000552-9615","publication_ids":[24321,37344,65671,105193,113536,116015,116683,120411],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:931","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Immunoglobulin A glomerulonephropathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":553,"omia_phene_id":932,"omia_record_id":"OMIA:000553-9615","publication_ids":[36188,117318],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:932","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Inborn error of hepatic metabolism","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":561,"omia_phene_id":943,"omia_record_id":"OMIA:000561-9615","publication_ids":[25566],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:943","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Difference of sexual development, generic","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0002145","iri":"http://purl.obolibrary.org/obo/MONDO_0002145","label":"disorder of sexual differentiation"}],"name":"","omia_group_id":564,"omia_phene_id":951,"omia_record_id":"OMIA:000564-9615","publication_ids":[7770,9825,17592,18215,18974,25374,26162,31801,42812,66713,88293,92416,122026,125932,129118],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:951","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Giant Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200604"},{"name":"Komondor (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200779"}],"characterised":true,"characterised_year":2005,"clinical_features":"Signs begin around 6 to 12 weeks of age, and include failure to thrive and chronic inappetance. Affected animals also demonstrate neutropenia with hypersegmentation, nonregenerative anemia with anisocytosis and poikilocytosis, megaloblastic changes of the bone marrow, decreased serum Cbl concentrations, methylmalonic aciduria, and homocysteinemia. These animals have normal renal function, but low-molecular weight urinary protein excretion (Fyfe et al., 1991).","defect":true,"group_name":"Intestinal cobalamin malabsorption, AMN-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Autosomal recessive","mondo_terms":[],"name":"","omia_group_id":565,"omia_phene_id":957,"omia_record_id":"OMIA:000565-9615","publication_ids":[23124,26273,93465,107815,110306,110447,110448,116890,120419],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:957","source_release":"retrieved-2026-09-12","summary":"Intestinal cobalamin malabsorption is a metabolic disorder characterized by failure to thrive, neutropenia, decreased serum cobalamin (Cbl), and nonregenerative anemia. Other signs include chronic inappetance, megaloblastic changes of the bone marrow, methylmalonic aciduria, and homocysteinemia. It occurs in the giant schnauzer, Australian shepherd, border collie, Hungarian komondor, and beagle. In giant schnauzers and Australian shepherds intestinal cobalamin malabsorption is due to absence of receptors for the intrinsic factor-Cbl complex at the brush border of enterocytes in the ileum. A specific defect has not yet been demonstrated in other breeds. The mode of inheritance is autosomal recessive. The two known causative mutations are a deletion in AMN in the giant schnauzer, and a nucleotide substitution in AMN in the Australian shepherd. Tests are available to detect the known causative mutations. Parents and siblings of affected dogs should be tested. Breeding of affected dogs is not recommended. Carriers should be bred only to clinically normal dogs demonstrated to be non carriers. Entry edited by John C. Fyfe, D.V.M., Ph. D. Intestinal cobalamin malabsorption can be caused by mutations in the AMN gene (this entry) or by mutations in the CUBN gene [OMIA:001786-9615].","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Iris atrophy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":566,"omia_phene_id":958,"omia_record_id":"OMIA:000566-9615","publication_ids":[15421],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:958","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Iris defects","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":567,"omia_phene_id":960,"omia_record_id":"OMIA:000567-9615","publication_ids":[11992],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:960","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Chromosomal structural anomaly, fragile site, autosomal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":392,"omia_phene_id":1061,"omia_record_id":"OMIA:000392-9615","publication_ids":[21480,25651,39398],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1061","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Dysautonomia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":312,"omia_phene_id":1106,"omia_record_id":"OMIA:000312-9615","publication_ids":[40752,67477,78172,78599,96038,99177,99838,99901,101922,120603,125358,130473],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1106","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hepatic encephalopathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":453,"omia_phene_id":1118,"omia_record_id":"OMIA:000453-9615","publication_ids":[27535,36885,58028,59859,60076,116348],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1118","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypothalamic dysplasia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":535,"omia_phene_id":1127,"omia_record_id":"OMIA:000535-9615","publication_ids":[40116],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1127","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Bichon Frise (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200163"},{"name":"Chinese Shar-Pei (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200351"},{"name":"Chow Chow (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200361"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"English Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200495"},{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Newfoundland (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200938"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201185"},{"name":"Staffordshire Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201296"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ciliary dyskinesia, primary, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Several types of primary ciliary dyskinesia (also called Kartagener syndrome, immotile-cilia syndrome) exist. This entry focuses on primary ciliary dyskinesia for which likely causal variants have not been identified. Types of this disease for which a causal gene has been identified are listed in separate entries, e.g. 'OMIA002206-9615 : Ciliary dyskinesia, primary, NME5-related in Canis lupus familiaris' (Alaskan Malamute) or 'OMIA001540-9615 : Ciliary dyskinesia, primary, CCDC39-related in Canis lupus familiaris' (Old English Sheepdog).","omia_group_id":573,"omia_phene_id":1131,"omia_record_id":"OMIA:000573-9615","publication_ids":[14989,17449,22363,56084,84144,86387,94434,99893,107301,109648,109651,109652,109653,109654,109655,109656,109657,109658,121251,123370,123371,123372,123373,123374,125552],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1131","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Kelpie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200090"},{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Bluetick Coonhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200183"},{"name":"Cairn Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200267"},{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"Irish Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200702"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"West Highland White Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201415"}],"characterised":true,"characterised_year":1996,"clinical_features":"Clinical signs are usually apparent in affected dogs by 4-6 weeks of age (Corado et al., 2020). Affected dogs initially present with tremors and pelvic limb weakness which then progresses to pelvic limb ataxia as well as thoracic limb dysmetria, followed by tetraparesis and then eventually hind limb paralysis (Corado et al., 2020). Other clinical signs may include a wide-based stance, hypermetria, generalised incoordination and muscle atrophy (Bradbury et al., 2018). [IT thanks DVM student Sharna Allison, who provided the basis of this contribution in April 2022]","defect":true,"group_name":"Krabbe disease","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009499","iri":"http://purl.obolibrary.org/obo/MONDO_0009499","label":"Krabbe disease"}],"name":"globoid cell leukodystrophy","omia_group_id":578,"omia_phene_id":1140,"omia_record_id":"OMIA:000578-9615","publication_ids":[200,6696,7280,7854,7958,8115,8578,8658,9510,56957,67199,82983,85184,91304,94154,107795,109416,109419,110227,111490,116394,117003,117013,120050,120540,121022,122080,123152,123190,123191,123192,123193,123194,123195,123196,125673,126293,128324,132066],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1140","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Legg-Calvé-Perthes disease","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":586,"omia_phene_id":1149,"omia_record_id":"OMIA:000586-9615","publication_ids":[8540,9135,9707,11353,18510,30553,57410,83523,89288,102023,110080,110081,110082,110083,110084,110085,110086,110087,112089,112090,112091,125025],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1149","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Toy Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200057"},{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Brittany Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200239"},{"name":"Chinese Crested (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200345"},{"name":"Chinese Shar-Pei (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200351"},{"name":"German Hunting Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200568"},{"name":"German Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201454"},{"name":"German Spitz (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200585"},{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Lagotto Romagnolo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200804"},{"name":"Lancashire Heeler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200808"},{"name":"Miniature Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200882"},{"name":"Parson Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200987"},{"name":"Patterdale Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200990"},{"name":"Portuguese Podengo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201067"},{"name":"Rat Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201125"},{"name":"Sealyham Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201200"},{"name":"Tenterfield Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201342"},{"name":"Tibetan Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201353"},{"name":"Toy Fox Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201361"},{"name":"Volpino Italiano (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201390"},{"name":"Welsh Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201412"},{"name":"Wire Fox Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201424"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":true,"characterised_year":2010,"clinical_features":"The clinical features associated with primary lens luxation (PLL) are changes to eye lens stability in both eyes, with varying severity of clinical signs associated with each eye. PLL typically goes undetected until the lens displaces in one eye. Dogs typically present with concurrent partial lens displacement of the other eye, which progresses into full displacement weeks to months later (Farias et al., 2010; Colitz & O’Connell, 2015). The lens usually moves anteriorly causing disruption to the pupil and draining mechanism in the eye, leading to acute glaucoma (Gould et al., 2011; Gharahkhani et al., 2015). IT thanks DVM student Zoe Levesque, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Lens luxation","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Primary lens luxation; isolated canine ectopia lentis; luxatio lentis","omia_group_id":588,"omia_phene_id":1152,"omia_record_id":"OMIA:000588-9615","publication_ids":[3472,7113,7814,9019,16572,108334,108335,108705,109176,109177,109178,109179,109868,109869,109870,109871,109873,112147,113243,114091,115392,115542,116317,116620,117845,120017,122863,123851,124863,124864,125142,125143,125219,125653,127725,127726,129746],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1152","source_release":"retrieved-2026-09-12","summary":"see also OMIA 001976-9615 : Glaucoma, primary open angle, ADAMTS17-related in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Irish Red and White Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200700"},{"name":"Irish Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200702"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":1999,"clinical_features":"Onset of signs is often less than 12 weeks of age, with average age of presentation to the veterinarian at 13.5 weeks. Signs include recurrent infections, neonatal omphalophlebitis, fever, anorexia, lameness, impaired wound healing, severe skin infections, gingivitis, salivation, thickened mandible, enlarged metaphyses of the distal radius, ulna, tibia, and fibula, lameness, enlarged lymph nodes, and low body weight (Creevy et al., 2003a).. Characteristically, wounds fail to exhibit purulent exudate (Kijas et al., 1999) in the face of severe peripheral leukocytosis with a left shift and active granulocytosis in the bone marrow. Untreated dogs often die by 6 months of age. Gene therapy has been successful in reversing clinical signs (Creevy et al., 2003b).","defect":true,"group_name":"Leukocyte adhesion deficiency, type I","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0007293","iri":"http://purl.obolibrary.org/obo/MONDO_0007293","label":"leukocyte adhesion deficiency 1"}],"name":"Canine leukocyte adhesion deficiency","omia_group_id":595,"omia_phene_id":1163,"omia_record_id":"OMIA:000595-9615","publication_ids":[31517,40349,43356,88274,91912,92696,94590,100001,102179,106584,107422,108314,109254,109517,110457,110458,110459,112823,112824,112825,112826,112827,112828,113694,117130,120515,125653,127700],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1163","source_release":"retrieved-2026-09-12","summary":"In canine leukocyte adhesion deficiency (CLAD) of the Irish Setter and the Irish Red and White Setter, leucocytes fail to express CD11/CD18 cell surface integrins due to CD18 deficiency. As these cell surface receptors are necessary for interaction with other cells and the extracellular matrix, affected leucocytes are unable to migrate to sites of infection, participate in phagocytosis, or mount a respiratory burst, which results in recurrent, life-threating infections. Clinical signs include severe, recurrent bacterial skin infections, neonatal omphalophlebitis impaired wound healing, wounds that fail to exhibit purulent exudate, fever, gingivitis, lameness, and enlarged lymph nodes. The mode of inheritance is autosomal recessive. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Lymphoedema","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":613,"omia_phene_id":1181,"omia_record_id":"OMIA:000613-9615","publication_ids":[7437,8661],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1181","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Bernese Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200161"},{"name":"Flat-Coated Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200528"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"}],"characterised":false,"characterised_year":2017,"clinical_features":"","defect":true,"group_name":"Histiocytosis, malignant","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"After examining the family data pertaining to 127 cases in Bermese mountain dogs, Padgett et al. (1995) concluded that the data were not consistent with any of the simple, single-locus models of inheritance. Considering it as a multifactorial disorder, they estimated the heritability of liability to be 0.30.","mondo_terms":[],"name":"","omia_group_id":620,"omia_phene_id":1188,"omia_record_id":"OMIA:000620-9615","publication_ids":[37159,58348,59269,67159,108688,108946,110281,110282,112347,114223,115519,116049,116050,116051,116052,116053,116054,116055,116056,116057,116058,116059,116060,116061,116062,116063,116064,116065,116066,116067,116068,116069,116070,116071,116072,116073,116074,116075,116076,116077,116078,116079,116080,116081,116082,116084,116085,116086,116087,116088,116089,116090,116091,116092,116093,117743,118744,119092,119503,119558,119672,121579,122261,122262,122438,124216,124317,124515,124849,125013,125556,125828,128000,128144,128773,129000,129436,130118,130380,133125,133222],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1188","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Anatolian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200062"},{"name":"Bichon Frise (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200163"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200375"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200638"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201029"},{"name":"Saint Bernard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201160"}],"characterised":true,"characterised_year":2001,"clinical_features":"MH is a pharmacogenetic clinical syndrome that affects multiple species. Dogs with malignant hyperthermia present as an outwardly healthy dog, but develop hypercapnea, tachycardia, and hyperthermia during general anesthesia. Signs can progress to cardiac dysrhythmia, rhabdomyolysis, renal failure, and death if the anesthetic is not discontinued. Common triggers of clinical signs include volatile inhalants (halothane, isoflurane, desflurane and sevoflurane) and depolarizing muscle relaxants such as succinylcholine (Roberts et al., 2001, Brunson and Hogan, 2004). Treatment involves cessation of the causative anesthetic, supportive care, cooling, and dantrolene administration. Dantrolene is a muscle relaxant that blocks calcium release inside myocytes (Brunson and Hogan, 2004). Unlike affected humans or pigs (Nelson et al., 2002), affected dogs develop signs primarily in response to chemical triggers and exhibit less severe metabolic acidosis and muscle rigidity during a clinical episode (Roberts et al., 2001). Alternative anesthetic protocols for affected dogs can include nitrous oxide, benzodiazepines, phenothiazines, barbiturates, etomidate, propofol, dissociative agents, opioids, nondepolarizing neuromuscular blockers, or a combination of intravenous and local or regional anesthesia. Sufficient premedication is important, since stress can be a contributing factor to development of clinical signs (Brunson and Hogan, 2004). [IT thanks DVM student Jianjian Gong for suggested changes in April 2022]","defect":true,"group_name":"Malignant hyperthermia","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":621,"omia_phene_id":1191,"omia_record_id":"OMIA:000621-9615","publication_ids":[16849,33032,71817,77331,79264,98179,108713,110538,112127,112128,112129,112130,112131,112132,112133,112134,112135,112136,112137,112138,112139,112472,118058,123296,123297,124287,126635,127689,127690,128300,128910,130670],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1191","source_release":"retrieved-2026-09-12","summary":"Malignant hyperthermia is a disorder of skeletal muscle characterized by hypercapnea, tachycardia, and hyperthermia in response to a chemical trigger, and can be fatal. It is an autosomal dominant trait caused by a mutation in the skeletal muscle ryanodine receptor. The omia.variant:54 variant has been identified in several breeds. Affected dogs show no clinical signs until exposed to chemical triggers, which are common anesthetic agents. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Megakaryoblastic leukaemia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":630,"omia_phene_id":1209,"omia_record_id":"OMIA:000630-9615","publication_ids":[40128],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1209","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Chinese Shar-Pei (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200351"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"Fox Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200530"},{"name":"Goldendoodle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200611"},{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"},{"name":"Irish Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200702"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Newfoundland (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200938"},{"name":"Parson Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200987"},{"name":"Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201185"},{"name":"Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201287"},{"name":"White Swiss Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201423"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Megaoesophagus, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Congenital idiopathic megaesophagus","omia_group_id":631,"omia_phene_id":1211,"omia_record_id":"OMIA:000631-9615","publication_ids":[7663,11255,44195,46244,48397,50710,51642,58319,67630,73673,74803,75711,78646,85059,87421,90638,98566,98680,103256,111881,114629,116849,123131,124674,125182,125183,125184,125185,125186,125187,126846,127594,130288],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1211","source_release":"retrieved-2026-09-12","summary":"For detailed information on megaoesophagus in German Shepherd dogs due to variants in the MCHR2 gene see 'OMIA:002716-9615 : Megaoesophagus, MCHR2-related in Canis lupus familiaris'","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Microphthalmia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":649,"omia_phene_id":1234,"omia_record_id":"OMIA:000649-9615","publication_ids":[6726,7015,7518,25053,52616,78479,109812,118120,125219,127459,130531],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1234","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Mislocated polydontic maxillary incisor teeth","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":652,"omia_phene_id":1240,"omia_record_id":"OMIA:000652-9615","publication_ids":[45980],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1240","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Mitral stenosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":653,"omia_phene_id":1241,"omia_record_id":"OMIA:000653-9615","publication_ids":[45442,50905,51062,75213,109907,125307,127132],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1241","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Borzoi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200197"},{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Myxomatous valvular degeneration","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"Myxomatous mitral valve disease","omia_group_id":654,"omia_phene_id":1242,"omia_record_id":"OMIA:000654-9615","publication_ids":[31521,36089,45225,66676,71135,73537,83800,86304,87733,96522,103347,103760,105170,106995,107298,108813,108948,110396,110498,112277,112278,112279,112280,112281,112282,112283,112284,112285,112286,112287,112288,112289,112290,112291,112292,112293,112294,112295,113593,114091,114614,115469,115945,116248,116283,116773,116950,116996,117012,117022,117028,117078,117097,117107,117305,117306,117312,117315,117342,117345,117349,117368,117915,118049,119763,120424,120527,120859,121657,121813,122003,122036,122045,122070,122292,122422,122455,122569,122646,122871,123007,123016,123023,123038,123040,123073,123075,123932,123933,123934,123974,124003,124105,124110,124168,124185,124281,124310,124321,124443,124482,124503,124541,124584,124585,124649,124743,124853,125082,125307,125371,125609,125722,125832,125845,125859,125872,125912,125977,126040,126163,126164,126170,126279,126359,126427,126435,126453,126463,126508,126518,126561,126581,126615,126667,126756,126892,126914,127023,127076,127080,127129,127145,127147,127148,127321,127471,127548,127552,127582,127634,127754,128021,128052,128251,128390,128433,128497,128643,128657,128666,128706,128831,129031,129109,129114,129193,129234,129272,129333,129377,129527,129552,129701,129845,130128,130175,130193,130361,130374,130396,130397,130539,130635,130760,130770,130790,131075,131139,132031,132124,132368,132418,132500,132541,132554,132577,132579,132765,132776,132789,132797,132811,132824,132852,132886,132901,132932,132992,133072,133100,133107,133157,133160,133250,133283,133284,133286,133307,133309,133406,133422,133480,133494,133535,133559],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1242","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Chesapeake Bay Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200326"},{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"},{"name":"Miniature Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200893"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Poodle, Toy (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201061"},{"name":"Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201406"}],"characterised":true,"characterised_year":2004,"clinical_features":"","defect":true,"group_name":"Mucopolysaccharidosis VI","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009661","iri":"http://purl.obolibrary.org/obo/MONDO_0009661","label":"mucopolysaccharidosis type 6"}],"name":"MPS VI","omia_group_id":666,"omia_phene_id":1256,"omia_record_id":"OMIA:000666-9615","publication_ids":[107366,107774,112553,112991,116004,117831,117832,120540,120970,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1256","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Brazilian Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200231"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"}],"characterised":true,"characterised_year":1998,"clinical_features":"At 4 weeks of age, affected dogs show a shortened, broad face, low-set ears, and a laterally broad chest. By 8 weeks of age, diffuse corneal clouding is apparent. At 9 weeks of age, affected dogs are half as large as their normal littermates, but have disproportionately large heads. Polymorphonuclear leukocytes and lymphocytes from affected animals contain coarse cytoplasmic granules that stain with toluidine blue. Urine from affected animals contain excessive chondroitin 4- and 6-sulfates and dermatan and heparan sulfates. By 2 to 5 months of age, affected dogs have trouble standing but can move in sternal recumbency. Most joints are easily subluxated and crepitant, with swollen, fluctuant joint capsules filled with excessive synovial fluid. There is significant epiphyseal dysplasia. Cardiac abnormalities, primarily mitral insufficiency and aortic aneurism can be present but are variable (Haskins et al., 1991).","defect":true,"group_name":"Mucopolysaccharidosis VII","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009662","iri":"http://purl.obolibrary.org/obo/MONDO_0009662","label":"mucopolysaccharidosis type 7"}],"name":"","omia_group_id":667,"omia_phene_id":1258,"omia_record_id":"OMIA:000667-9615","publication_ids":[10865,18350,22345,28868,69069,80449,84031,85223,91157,102426,107138,107236,107362,107686,109071,109072,109075,109097,109348,110551,112313,112314,112595,112991,113761,114575,114613,114614,114989,115348,115528,116186,116187,120515,120540,120744,120746,121340,121794,122166,122255,123926],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1258","source_release":"retrieved-2026-09-12","summary":"Mucopolysaccharidosis VII is a lysosomal storage disease characterized by accumulation of undegraded glycosaminoglycans (dermatan, heparan, and chondroitin sulfates) in lysosomes. Clinical signs include facial dysmorphia, diffuse corneal clouding, appendicular and axial skeletal lesions, and glycosaminoglycans in urine. Affected animals are deficient in the enzyme beta-glucuronidase, which is a lysosomal acid hydrolase. Affected animals have very low enzyme activity compared to normal animals, and carriers have 40-60% enzyme activity compared to normal animals.\r\nThe mode of inheritance is autosomal recessive. The causative mutation is a G to A substitution in the gene coding for the hydrolase, beta-glucuronidase (GUSB). There is a test available to detect the causative mutation. Testing siblings of affected dogs is recommended. Breeding of carriers or affected dogs is not recommended.\r\n\r\nEdited by Mark Haskins, VMD, Ph.D","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Brittany Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200239"},{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Grand Basset Griffon Vendeen (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200615"},{"name":"Irish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200704"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"},{"name":"Rat Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201125"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Samoyed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201174"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":false,"characterised_year":null,"clinical_features":"Affected dogs develop clinical signs at 8 to 10 weeks of age. Signs include a shuffling gait or shortened stride (“bunny hopping”), inability to completely open the jaw, difficulty eating, thickening of the base of the tongue, excessive salivation, abduction of front paws, adduction of stifles and hocks, and prominent wasting of temporal and trunk muscles (Shelton, 2004; Valentine et al., 1992; Kornegay et al., 2011). Other signs include spinal and costal curvature, resulting in a crouched posture (Valentine et al., 1992). Elevated serum creatine kinase concentrations (up to 300 times greater than normal) begins during the first week of life age, and is exacerbated by exercise (Valentine et al., 1992). In breeds where a mutation has not been reported, affected dogs can be tentatively diagnosed by immunohistochemical tests for the presence or absence of dystrophin protein in skeletal muscle biopsy (Shelton and Engvall 2002).","defect":true,"group_name":"Muscular dystrophy","inheritance":null,"inheritance_text":"Carrier females usually do not show clinical signs. However, due to random X inactivation, they can occasionally present with limb weakness and highly elevated serum creatine kinase, or show changes on electromyography or biopsy (Shelton et al., 2004; Kornegay et al., 2011).","mondo_terms":[],"name":"","omia_group_id":679,"omia_phene_id":1271,"omia_record_id":"OMIA:000679-9615","publication_ids":[13512,18367,20507,23600,25120,26032,27432,30692,42497,43424,45804,46482,47217,50968,50998,51710,67210,76630,80697,91002,99184,110209,110251,121028],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1271","source_release":"retrieved-2026-09-12","summary":"This is the canine homologue of human Duchenne muscular dystrophy, which is caused by mutations in the dystrophin gene and is characterized by progressive weakness and muscle wasting that is ultimately fatal. Clinical signs begin at 8-10 weeks of age. Absence of the dystrophin protein causes sarcolemma dysfunction, muscular hypercontraction, and ultimately, muscle fiber degeneration. The mode of inheritance is X-linked recessive. Genetic tests are available. \r\n\r\nEdited by Meg Sleeper, VMD and Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"},{"name":"Australian Labradoodle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200092"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Brittany Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200239"},{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"Entlebucher Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200503"},{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Grand Basset Griffon Vendeen (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200615"},{"name":"Irish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200704"},{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Japanese Spitz (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200740"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"},{"name":"Rat Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201125"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Samoyed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201174"},{"name":"Shiba Inu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201220"},{"name":"Tibetan Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201353"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":true,"characterised_year":1992,"clinical_features":"Affected dogs develop clinical signs at 8 to 10 weeks of age. Signs include a shuffling gait or shortened stride (“bunny hopping”), inability to completely open the jaw, difficulty eating, thickening of the base of the tongue, excessive salivation, abduction of front paws, adduction of stifles and hocks, and prominent wasting of temporal and trunk muscles (Shelton, 2004; Valentine et al., 1992; Kornegay et al., 2011). Other signs include spinal and costal curvature, resulting in a crouched posture (Valentine et al., 1992). Elevated serum creatine kinase concentrations (up to 300 times greater than normal) begins during the first week of life age, and is exacerbated by exercise (Valentine et al., 1992). In breeds where a mutation has not been reported, affected dogs can be tentatively diagnosed by immunohistochemical tests for the presence or absence of dystrophin protein in skeletal muscle biopsy (Shelton and Engvall 2002).","defect":true,"group_name":"Muscular dystrophy, Duchenne type","inheritance":{"code":"XLR","name":"X-linked recessive"},"inheritance_text":"Carrier females usually do not show clinical signs. However, due to random X inactivation, they can occasionally present with limb weakness and highly elevated serum creatine kinase, or show changes on electromyography or biopsy (Shelton et al., 2004; Kornegay et al., 2011).","mondo_terms":[{"id":"MONDO:0010679","iri":"http://purl.obolibrary.org/obo/MONDO_0010679","label":"Duchenne muscular dystrophy"}],"name":"X-linked muscular dystrophy; Dystrophin-deficient muscular dystrophy","omia_group_id":1081,"omia_phene_id":1277,"omia_record_id":"OMIA:001081-9615","publication_ids":[15076,17102,20652,27432,30692,32431,32792,33766,45054,60116,62569,64424,67210,76630,85009,86100,86738,87417,89150,89577,91259,94175,95585,96366,97059,99012,100748,100905,102790,103059,105572,105973,106251,106959,107233,107294,107295,107297,107337,108795,109291,109360,109361,109362,109377,109398,109409,109410,109453,110002,110019,110203,110204,110205,110206,110207,110209,110210,110211,110251,110489,110490,110797,110799,110800,110801,110806,111651,112140,112141,112142,112143,112144,112145,112538,112539,112540,112541,112542,112543,112544,113815,114989,115029,115030,115031,115032,115033,115034,115035,115036,115037,115038,115039,115068,115290,115291,115357,115393,115395,115456,115471,115544,115873,115874,115875,115877,115878,115938,115939,116171,116297,116326,116444,116727,116816,116823,116883,116936,117029,117320,117445,117544,117549,117608,117670,117703,117778,117913,117998,118053,118148,118149,118150,118153,118224,119354,119992,120488,120515,120540,120722,120858,120892,120893,120894,120946,121192,121356,121407,121765,121992,122016,122170,122233,122572,122713,122999,123028,123087,123126,123243,123541,123639,123643,123894,123895,123931,124093,124301,124409,124552,124691,125051,125727,125728,125732,126278,126420,126424,126684,126743,127372,127767,128081,128399,128548,128603,128787,128876,129081,129162,129796,130059,130116,130180,130198,130420,130425,130740,130814,130816,130817,130818,131150,132255,133331],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1277","source_release":"retrieved-2026-09-12","summary":"Also known as Golden Retriever Muscular Dystrophy (GRMD), because this is the breed in which this disorder was first documented. This is the canine homologue of human Duchenne muscular dystrophy, which is caused by mutations in the dystrophin gene and is characterized by progressive weakness and muscle wasting that is ultimately fatal. Clinical signs begin at 8-10 weeks of age. Absence of the dystrophin protein causes sarcolemma dysfunction, muscular hypercontraction, and ultimately, muscle fiber degeneration. The mode of inheritance is X-linked recessive. Edited by Meg Sleeper, VMD and Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT.
All known canine DMD variants that cause Duchenne or Becker like muscular dystrophy are listed in this entry.
This phene includes references to studies involving genetically modified organisms (GMO).","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Muscular dystrophy, dysphagia-associated","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":681,"omia_phene_id":1278,"omia_record_id":"OMIA:000681-9615","publication_ids":[47235,123720],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1278","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Myasthenia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":684,"omia_phene_id":1284,"omia_record_id":"OMIA:000684-9615","publication_ids":[9065,10555,17434,19597,32696,48771,53503,58186,64453,65487,74327,76517,78649,78839,80980,82994,87392,87590,87630,90074,93447,95512,99189,107600,110223,117325,120841,123287,129795,130876],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1284","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Brussels Griffon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200241"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Dachshund, Miniature Wire-Haired (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200411"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Newfoundland (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200938"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"},{"name":"Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201029"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Poodle, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201056"}],"characterised":true,"characterised_year":2005,"clinical_features":"","defect":true,"group_name":"Myoclonus epilepsy of Lafora","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":690,"omia_phene_id":1293,"omia_record_id":"OMIA:000690-9615","publication_ids":[7171,10133,12037,99979,107180,107234,112474,114091,114990,117181,117301,117673,119034,119978,121854,122425,122454,122714,126861,127575,127716,127717,127718,127719,127721,128324,128691,128692],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1293","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Irish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200704"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Myopathy, sex-linked","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":692,"omia_phene_id":1297,"omia_record_id":"OMIA:000692-9615","publication_ids":[111522],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1297","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Samoyed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201174"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Myopathy, congenital","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":694,"omia_phene_id":1299,"omia_record_id":"OMIA:000694-9615","publication_ids":[41212],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1299","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Old English Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200969"},{"name":"Poodle, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201056"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Myopathy, mitochondrial","inheritance":{"code":"MIT","name":"Mitochondrial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":695,"omia_phene_id":1300,"omia_record_id":"OMIA:000695-9615","publication_ids":[74778,124008,124009,128023],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1300","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Silky Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201237"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Myopathy, progressive, subacute","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":696,"omia_phene_id":1301,"omia_record_id":"OMIA:000696-9615","publication_ids":[47380],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1301","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Afghan Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200004"},{"name":"Airedale Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200008"},{"name":"Alaskan Malamute (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200017"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Cockapoo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200370"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"Dogo Argentino (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200445"},{"name":"Giant Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200604"},{"name":"Irish Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200702"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Poodle, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201056"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Saint Bernard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201160"},{"name":"Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201287"},{"name":"Wirehaired Pointing Griffon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201427"}],"characterised":true,"characterised_year":1999,"clinical_features":"Dogs with familial narcolepsy may show signs between 4 weeks to 6 months of age. Affected dogss are sleepy, and cannot maintain long stretches of wakefulness. Affected dogs fall asleep faster than normal dogs. Narcolepsy is neither progressive nor life-threatening (Tonokura et al., 2007). In response a positive emotional stimulus (such as food or play) affected animals experience cataplexy, which is a sudden loss of muscle tone without loss of consciousness (Tonokura et al., 2007). During an attack of cataplexy, common first signs are buckling of both hindlimbs and drooping of the neck. The dog then collapses and is still for a period of seconds to minutes. The muscles are always flaccid during attacks. Dogs usually remain conscious and open-eyed during attacks, and are capable of following objects with their eyes. If an attack lasts for longer than a couple of minutes, the dog may fall asleep. Cataplexy can often be treated with tricyclic antidepressants such as imipramine or clomipramine (Tonokura et al., 2007). Prazosin and physostigmine increase cataplexy in narcoleptic dogs and lower hypocretin levels in normal dogs. Methamphetamine, labetalol, and phenylephrine decrease cataplexy in narcoleptic dogs and raise hypocretin levels in normal dogs (Wu et al., 2011).","defect":true,"group_name":"Narcolepsy","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"The disorder shows classic autosomal recessive inheritance (Foutz et al., 1979).","mondo_terms":[],"name":"","omia_group_id":703,"omia_phene_id":1311,"omia_record_id":"OMIA:000703-9615","publication_ids":[12101,13316,13318,15946,17198,17491,23404,24013,25283,26369,31364,32393,32566,36674,37103,43099,47420,47887,51174,55707,55891,60707,61152,64663,68666,70227,70687,73110,75028,75932,77081,77598,79622,84857,85204,86624,87179,88844,95967,96397,97143,98861,101178,101366,105881,106811,107043,107221,109336,109337,109338,109502,112833,112834,112835,112836,112837,112838,112839,112840,112841,112842,112843,112844,112845,112846,112847,112848,112849,115060,121353,122426,127540,128324,129645],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1311","source_release":"retrieved-2026-09-12","summary":"Narcolepsy is a sleep disorder characterized by shortened sleep latency and cataplexy. Genetic tests are available to detect the causative mutations in HCRTR2.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Nederlandse Kooikerhondje (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200932"}],"characterised":true,"characterised_year":2023,"clinical_features":"Mandigers et al. (2023): \"The clinical signs, paresis and ataxia, start in most [affected Kooiker] dogs around the age of 3–12 months in the hind limbs and progresses to tetraparalysis before the age of 2 years.\"","defect":true,"group_name":"Necrotising myelopathy, IBA57-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Mandigers et al. (2023): \"Pedigree analysis indicated that the disease is inherited as an autosomal recessive trait, probably originating from a single founder (Mandigers et al., 1993)\"","mondo_terms":[],"name":"Hereditary necrotizing myelopathy","omia_group_id":706,"omia_phene_id":1315,"omia_record_id":"OMIA:000706-9615","publication_ids":[35218,124915,124916,125650,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1315","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Nephritis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":708,"omia_phene_id":1321,"omia_record_id":"OMIA:000708-9615","publication_ids":[62141,101412],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1321","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Bernese Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200161"},{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Nephropathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"References relating to chronic kidney disease are included in this entry.","omia_group_id":710,"omia_phene_id":1323,"omia_record_id":"OMIA:000710-9615","publication_ids":[15028,17093,50732,72842,73204,73348,73441,91263,107333,114034,121581,123389,124075],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1323","source_release":"retrieved-2026-09-12","summary":"Information relating to autosomal recessive hereditary nephropathy due to COL4A4 variants have been moved to \"OMIA:002618-9615 : Nephropathy, COL4A4 related in Canis lupus familiaris\" [1/2/2023]","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Nephrotic 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(Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201029"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Nervous","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":713,"omia_phene_id":1328,"omia_record_id":"OMIA:000713-9615","publication_ids":[18110,20960,33198,46690,107300],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1328","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Neuroaxonal dystrophy, 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+{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Osteoarthritis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":747,"omia_phene_id":1370,"omia_record_id":"OMIA:000747-9615","publication_ids":[40667,66756,67386,67829,70137,71940,74485,74601,74791,74855,75816,75833,75881,75882,75911,75912,75935,75947,75948,75966,75991,76878,77488,77489,84689,84999,85255,87171,87244,87570,88278,91644,91981,94405,102316,104606,105945,106004,106954,108485,108633,108943,109452,109881,110037,110212,116559,117677,118985,119249,119615,119746,120390,122191,122955,123633,124098,124372,124543,125046,125102,125682,125890,126616,127549,130092,130557,132468,132538,132646,132647],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1370","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Cattle Dog 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possible crepitus (Everts et al., 2000; van der Peijl et al. 2012; Biezyński et al., 2012; Wall et al., 2014; Murphy et al., 2019; Vezzoni and Benjamino, 2021).\r\n[IT thanks DVM student Ashley Turi, who provided the basis of this contribution in April 2022]","defect":true,"group_name":"Osteochondritis dissecans","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":748,"omia_phene_id":1373,"omia_record_id":"OMIA:000748-9615","publication_ids":[21442,35056,35192,42179,50130,60224,63301,63449,68298,76689,79478,86152,86407,90993,92229,94074,94303,109843,109856,110725,111894,112466,112955,123358,123359,123360,123361],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1373","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Osteochondroma causing progressive 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Srinarang et al. (2018) reported a SNP in the Dystroglycan 1 (DAG1) gene that showed an association with the disorder in the Chihuahua breed. It is, therefore, possible that this gene is one of the many quantitative trait loci (QTL) that contribute to genetic variation in liability for this disorder.","mondo_terms":[],"name":"","omia_group_id":778,"omia_phene_id":1410,"omia_record_id":"OMIA:000778-9615","publication_ids":[3005,3006,27128,35179,40690,44409,46153,51224,56560,56858,61356,61444,75432,79623,83177,85995,88609,90113,91034,92373,99872,100539,100807,102023,107435,108601,113209,114091,114175,114910,115442,115603,115604,115605,115606,115607,115608,115609,115610,115611,115612,115613,115614,116822,116881,116998,117484,117490,117693,118049,118061,118192,118819,120426,122033,123325,123326,123327,123328,124323,125025,125541,126010,126619,128721,129956,130453,132133,132599,133032,133404,133411,133505,133535],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1410","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Patent ductus arteriosus","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0011827","iri":"http://purl.obolibrary.org/obo/MONDO_0011827","label":"patent ductus arteriosus"}],"name":"","omia_group_id":779,"omia_phene_id":1413,"omia_record_id":"OMIA:000779-9615","publication_ids":[7643,7751,13236,15147,17467,22595,29400,36699,47089,58274,60764,61951,63183,64446,69050,75897,80802,81382,84418,84719,85475,87822,89300,92302,92580,95109,99430,101862,102101,104280,105668,107263,109396,110024,110025,110026,110028,110029,110244,113593,114091,115389,116136,116834,117023,117382,118049,120859,123017,125307,126179,128113,129566,129710,130789],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1413","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Patent ductus arteriosus and pulmonary hypertension","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":780,"omia_phene_id":1417,"omia_record_id":"OMIA:000780-9615","publication_ids":[30729,36260],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1417","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Basenji (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200120"},{"name":"Black and Tan Coonhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200168"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Boston Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200204"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"Danish/swedish Farm Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0000663"},{"name":"Foxhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200531"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Redbone Coonhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201132"},{"name":"Samoyed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201174"}],"characterised":false,"characterised_year":null,"clinical_features":"PHA is a leucocyte development-disorder, in which granulocytes and monocytes show hyposegmentation of the nuclei with a mature, coarse chromatin pattern (Latimer et al. 2000). Those changes are without any clinical relevance, but frequently lead to misdiagnosis as marked left shift, which is normally caused by inflammation, preleucaemic syndrome or drug induced changes in leucocyte morphology.","defect":true,"group_name":"Pelger-Huet anomaly","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":783,"omia_phene_id":1422,"omia_record_id":"OMIA:000783-9615","publication_ids":[9205,78453,93076,120699,120700,120701,120702,125302,130215],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1422","source_release":"retrieved-2026-09-12","summary":"Human Pelger-Huët anomaly is caused by heterozygous variants in the LBR gene and characterized by hyposegmentation of granulocytes. Bi-allelic loss of function of the LBR gene in humans results in Greenberg skeletal dysplasia, a severe condition involving prenatal lethality. All literature before 2023 hypothesized that dogs with hyposegmentation of granulocytes represent true homologs of the human Pelger-Huët anomaly, but the underlying causal genetic variant in dogs was unknown. Lourdes Frehner et al. (2023) demonstrated that a common form of hyposegmentation of granulocytes in dogs is actually caused by a variant in the LMBR1L gene (OMIA:002700-9615). Lourdes Frehner et al. (2023) proposed to reserve the term Pelger-Huët anomaly for LBR-related forms of hyposegmentation of granulocytes. At this time, it is not clear whether a true LBR-related form of PHA has ever been observed in dogs.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Persistence of immature pyruvate kinase and hexokinase isozymes","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":790,"omia_phene_id":1430,"omia_record_id":"OMIA:000790-9615","publication_ids":[13154],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1430","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Belgian Shepherd Dog, Malinois (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200147"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Maltese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200856"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Persistent Mullerian duct syndrome, generic","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009857","iri":"http://purl.obolibrary.org/obo/MONDO_0009857","label":"persistent Mullerian duct syndrome"}],"name":"Persistent Müllerian Duct Syndrome","omia_group_id":791,"omia_phene_id":1432,"omia_record_id":"OMIA:000791-9615","publication_ids":[629,14748,29859,38840,42812,72647,107331,108444,108833,109206,109393,109483,109484,111421,111593,111594,111595,118093,119914,122155,124312,125469,125653,127728,127729],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1432","source_release":"retrieved-2026-09-12","summary":"Information related to persistent Mullerian duct syndrome due to AMHR2 variants previously listed here has been moved to OMIA:002775-9615 Persistent Mullerian Duct Syndrome, AMHR2-related [20/09/2023].","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Persistent right aortic arch","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":794,"omia_phene_id":1436,"omia_record_id":"OMIA:000794-9615","publication_ids":[8073,9904,82553,94033,99928,107613,113137,113593],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1436","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pneumothorax","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":804,"omia_phene_id":1447,"omia_record_id":"OMIA:000804-9615","publication_ids":[39846,64562,101117,106511,109659,109661,109662,109663,122393],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1447","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Polyarthritis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":805,"omia_phene_id":1449,"omia_record_id":"OMIA:000805-9615","publication_ids":[44789,102143,112248,112249,112250,112251,112252,112253,112254,112255,112256,112257,126475,129711],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1449","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Polycystic mononephrosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":808,"omia_phene_id":1457,"omia_record_id":"OMIA:000808-9615","publication_ids":[4649],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1457","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Belgian Shepherd Dog, Malinois (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200147"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"Great Pyrenees (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200629"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"Lundehund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200838"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"},{"name":"Poodle, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201056"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Saint Bernard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201160"},{"name":"Sapsari (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201177"},{"name":"Schnauzer, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201189"},{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"},{"name":"Tosa (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201357"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":true,"characterised_year":2008,"clinical_features":"Park et al. (2008): “Canine preaxial polydactyly (PPD) in the hind limb is a developmental trait that restores the first digit lost during canine evolution. … As described previously (Park et al. 2004), the restored phenotype is slightly overmanifested, generating one or more preaxial digits. As a matter of fact, the external morphology of hind-limb-specific canine PPD is slightly different from other polydactylies in that only the claw is observed as having an extra digit with fibrous tissue connecting the region between the tarsal and the first metatarsal bones, which either is reduced in size or is incomplete with a lesser deposit of bony material (Miller 1979; Park et al. 2004).”","defect":true,"group_name":"Polydactyly","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"Dew claws, canine preaxial polydactyly","omia_group_id":810,"omia_phene_id":1462,"omia_record_id":"OMIA:000810-9615","publication_ids":[7943,8509,9853,123025,123026,123171,123172,123173,127757,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1462","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Polyneuropathy, distal sensorimotor","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":813,"omia_phene_id":1469,"omia_record_id":"OMIA:000813-9615","publication_ids":[48151,109106],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1469","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Portal vein hypoplasia, congenital","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1095,"omia_phene_id":1476,"omia_record_id":"OMIA:001095-9615","publication_ids":[51078],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1476","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Portosystemic shunt","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"From a pedigree analysis on extra-hepatic shunts in the Maltese breed, involving 19 affecteds, 94 confirmed normals, and a further 186 related dogs with unknown shunt status (including affecteds and normals involved in, and produced from, eight planned matings), O'Leary et al. (2014) estimated heritability on the binary scale to be 61%, which is equivalent to 9% on the underlying liability scale. Segregation analysis was weakly suggestive of a single (recessive) gene of large effect, but the results of the planned matings indicated substantial departure from autosomal recessive inheritance.","mondo_terms":[],"name":"","omia_group_id":817,"omia_phene_id":1479,"omia_record_id":"OMIA:000817-9615","publication_ids":[38749,48851,52683,55658,58514,59888,59947,60090,60779,61861,62749,62887,65129,65714,67520,68989,71709,72566,74707,77221,79635,80257,80302,80341,80702,80749,81030,81150,81518,81555,81949,82286,82754,83040,85012,85249,85560,85724,86415,86514,88978,89052,89510,89711,92047,92211,92913,93466,94544,94764,95093,98580,99844,100985,101764,101864,102695,103303,103689,105550,105800,105906,105943,106335,106500,106923,106997,107119,107125,107284,107605,107623,107630,107923,108824,109165,109296,110308,111898,112550,113233,113236,113237,113238,113240,114091,114170,114187,114661,115190,115191,115192,115440,115548,115550,115949,116001,116295,116324,116347,118049,122668,123556,124103,124107,124108,124151,124182,124276,124576,127071,127954,129054,132423],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1479","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Chinese Shar-Pei (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200351"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"}],"characterised":true,"characterised_year":2011,"clinical_features":"Prekallikrein (PK) is a protein that is involved in the blood clotting process. As a result, dogs with a PK deficiency experience prolonged activated partial thromboplastin Time (aPPT) (Okawa et al., 2011). This disorder is often asymptomatic in the absence of other clotting factor deficiencies (Chin et al., 1986). Classical signs of haemostatic disorders such as haematuria and prolonged bleeding or healing times after surgery have been reported but are unlikely unless there is concurrent disease (Chinn et al. 1986). Gastrointestinal bleeding has also been reported in a dog with this disorder (Otto et al., 1991). \r\nIT thanks DVM student Eloise O’Connor, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Prekallikrein deficiency","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0012901","iri":"http://purl.obolibrary.org/obo/MONDO_0012901","label":"inherited prekallikrein deficiency"}],"name":"","omia_group_id":819,"omia_phene_id":1484,"omia_record_id":"OMIA:000819-9615","publication_ids":[23152,109300,125168,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1484","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Prognathism","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":823,"omia_phene_id":1490,"omia_record_id":"OMIA:000823-9615","publication_ids":[111653,111654],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1490","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Axonopathy, progressive","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":825,"omia_phene_id":1492,"omia_record_id":"OMIA:000825-9615","publication_ids":[3046,34613,109916,109917,109918,109920],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1492","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Retinal atrophy, progressive, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":830,"omia_phene_id":1498,"omia_record_id":"OMIA:000830-9615","publication_ids":[7183,7490,8020,8084,8297,9115,9516,9629,9729,9756,10601,11819,15520,15739,23675,28695,52340,53785,60849,60954,66640,72523,76180,76477,76687,79233,80771,81846,82767,84099,85054,85197,85653,91399,92839,94278,101490,101875,103020,104659,106428,107020,107042,107290,107593,108328,108451,109378,114807,114901,116317,116991,118934,121655,121881,121882,121883,121884,121972,124662,124796,125653,126404,129719,129732,129746],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1498","source_release":"retrieved-2026-09-12","summary":"Many different forms of progressive retinal atrophy (PRA) exist and more than 10 different genes have been identified so far in dogs to have likely causal variants for PRA. Please review OMIA for other variants. Information relating to PRA due to a variant in the CNGB1 gene was previously listed here but has been moved to 'OMIA:002723-9615 : Retinal atrophy, progressive, CNGB1-related in Canis lupus familiaris' [16/06/2023].","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Samoyed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201174"},{"name":"Siberian Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201233"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":true,"characterised_year":2002,"clinical_features":"","defect":true,"group_name":"Retinal atrophy, progressive, X-linked, type 1","inheritance":{"code":"X","name":"X-linked"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":831,"omia_phene_id":1500,"omia_record_id":"OMIA:000831-9615","publication_ids":[50018,88634,91702,108326,108327,108764,111395,111399,111400,112004,112019,112345,116619,116802,117861,120497,120515,122028,122029,124948,125219,126404,129012,129668,129719,129760,130075,130892],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1500","source_release":"retrieved-2026-09-12","summary":"The difference between XLPRA1 (this entry) and XLPRA2 (OMIA:001518-9615) is summarised by Appelbaum et al. (2020) as \"XLPRA1-affected dogs have normal PR morphogenesis, after which progressive rod–cone degeneration develops in the peripheral retina, gradually advancing toward the optic disc. . . . The phenotype associated with XLPRA2 is very severe and manifests during early retinal development.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Basenji (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200120"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Cairn Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200267"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Pug (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201089"},{"name":"Toy American Eskimo Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201358"},{"name":"West Highland White Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201415"}],"characterised":true,"characterised_year":1994,"clinical_features":"Affected dogs present as young adults with signs of severe macrocytic hypochromic regenerative hemolytic anemia, such as intermittent weakness. Moderate hepatosplenomegaly occurs by one year of age, followed by progressive osteosclerosis and myelofibrosis. Bone marrow and liver failure typically occur by 5 years of age. Carriers have no clinical signs, but have half-normal levels of erythrocyte pyruvate kinase activity (Giger et al., 1991). Bone marrow transplants have been used to alleviate clinical signs in affected dogs (Takatu et al., 2003).","defect":true,"group_name":"Pyruvate kinase deficiency of erythrocyte","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009950","iri":"http://purl.obolibrary.org/obo/MONDO_0009950","label":"pyruvate kinase deficiency of red cells"}],"name":"","omia_group_id":844,"omia_phene_id":1515,"omia_record_id":"OMIA:000844-9615","publication_ids":[7959,8255,23362,23775,27521,32128,50122,62361,86989,87400,109156,110462,112644,112645,114155,127595,132132],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1515","source_release":"retrieved-2026-09-12","summary":"In pyruvate kinase deficiency, the erythrocyte life span is markedly reduced, which leads to severe regenerative hemolytic anemia. Clinical signs include intermittent weakness, moderate hepatosplenomegaly at less than one year of age and bone marrow and liver failure by 5 years of age. Pyruvate kinase deficiency has been identified in multiple breeds. The mode of inheritance is autosomal recessive. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Quadriplegia and amblyopia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":845,"omia_phene_id":1516,"omia_record_id":"OMIA:000845-9615","publication_ids":[47379],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1516","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Renal insufficiency","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":859,"omia_phene_id":1528,"omia_record_id":"OMIA:000859-9615","publication_ids":[51581,79283],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1528","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Renal nephropathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":860,"omia_phene_id":1529,"omia_record_id":"OMIA:000860-9615","publication_ids":[13504],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1529","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Retinal degeneration II","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1244,"omia_phene_id":1537,"omia_record_id":"OMIA:001244-9615","publication_ids":[8211,8262,8850,9005,9344,20072,20127,63140,66058,66288,76180,76477,80200],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1537","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"}],"characterised":false,"characterised_year":null,"clinical_features":"Signs include monomorphic ventricular arrhythmias, syncope, and sudden cardiac death. Magnetic resonance imaging (MRI) demonstrates right ventricular dilation and aneurysms, reduced right ventricular ejection fraction, and bright anterolateral and/or infundibular ventricular signals corresponding with an infiltration of fatty tissue (Meurs et al, 2010). Dogs homozygous for the STRN mutation had, on average, more ventricular premature contractions (VPCs) than heterozygous dogs (Meurs et al., 2010). Although STRN is also highly expressed in neural tissue, affected dogs have no apparent neurologic deficits (Meurs et al., 2010).","defect":true,"group_name":"Cardiomyopathy, arrhythmogenic right ventricular","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Meurs et al. (2010) and Cattanach et al. (2015) reported autosomal dominance with mostly low penetrance, which means, in effect, that this disorder is multifactorial.","mondo_terms":[],"name":"Arrhythmogenic right ventricular cardiomyopathy","omia_group_id":878,"omia_phene_id":1564,"omia_record_id":"OMIA:000878-9615","publication_ids":[51011,60213,87662,107081,108317,108477,108815,109181,109182,109900,109906,109915,114663,114962,116020,116021,121792,122753,122825,123650,124498,125307,125393,125623,125888,128596,130374,130465,132024,133322],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1564","source_release":"retrieved-2026-09-12","summary":"Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease characterized by monomorphic ventricular arrhythmias, syncope, and sudden cardiac death in Boxer dogs. Because the presenting sign can be sudden death, many dogs die without a diagnosis. Pathologic changes in the heart include dilation of the right ventricle and replacement of myocardial tissue with fibrous and fatty infiltrates. The mode of inheritance appears to be autosomal dominant with incomplete penetrance. A causative mutation has been identified in STRN. \r\n\r\nEdited by Meg Sleeper, VMD and Vicki N. Meyers-llen, VMD, PhD, Dipl. ACT\r\n\r\nHoldt et al. (2022) describe occurrence of arrhythmogenic right ventricular cardiomyopathy in Bulldogs. \"Genetic testing of five cases revealed that the representative Bulldogs from this study did not have the striatin mutation that has been previously documented in Boxers.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Retinal atrophy - Rod-cone dysplasia, CRX related","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013449","iri":"http://purl.obolibrary.org/obo/MONDO_0013449","label":"Leber congenital amaurosis 7"}],"name":"","omia_group_id":881,"omia_phene_id":1568,"omia_record_id":"OMIA:000881-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1568","source_release":"retrieved-2026-09-12","summary":"Redundant - Information previously listed here about the canine cone transducin-gamma gene and cone degeneration has been moved to '\r\nOMIA:002715-9615 : Cone degeneration in Canis lupus familiaris' [07/05/2023]","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Irish Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200702"}],"characterised":true,"characterised_year":1993,"clinical_features":"","defect":true,"group_name":"Retinal atrophy - Rod-cone dysplasia 1","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":882,"omia_phene_id":1569,"omia_record_id":"OMIA:000882-9615","publication_ids":[7230,8211,8212,32399,37943,54649,57843,57850,60793,61804,69083,69084,69085,69086,69087,71890,79868,85248,86203,107313,107344,112003,112004,115338,115539,117658,119960,122208,123542,123561,125219,126404,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1569","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Cardigan Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200290"}],"characterised":true,"characterised_year":1994,"clinical_features":"Affected pups are characterized by failure to thrive, absence of palpable peripheral lymph nodes, small thymic size, and T cells that are unresponsive to proliferative stimulation. Affected pups often succumb to chronic, recurrent, opportunistic infections in varied locations (ear, skin, intestine). Other signs include diarrhea, and intermittent vomiting. Vaccination of affected pups with modified live virus vaccines can induce viremia and clinical signs. Affected pups have peripheral lymphopenia with a normal percentage of B cells and a low to normal percentage of T cells. IgM concentrations are normal, but IgG and IgA concentrations are greatly reduced or absent (Pullen et al., 1997). Even with supportive treatment, affected pups usually die by 4 months of age. ","defect":true,"group_name":"Severe combined immunodeficiency disease, X-linked","inheritance":{"code":"X","name":"X-linked"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010730","iri":"http://purl.obolibrary.org/obo/MONDO_0010730","label":"combined immunodeficiency, X-linked"}],"name":"","omia_group_id":899,"omia_phene_id":1587,"omia_record_id":"OMIA:000899-9615","publication_ids":[35581,51639,51807,52887,61270,64907,78060,78207,79660,87580,87587,91463,107885,109079,109328,110162,110229,110230,110231,113417,113418,120515],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1587","source_release":"retrieved-2026-09-12","summary":"X-linked severe combined immunodeficiency disease (XSCID) is an immune disorder of basset hounds and Cardigan Welsh corgis. Affected pups have peripheral lymphopenia, with low or absent IgG and IgA, but normal IgM concentrations. Clinical findings include the absence of palpable lymph nodes, a small thymic shadow on radiographs, and chronic recurrent infections. It is invariably lethal. The breed specific mutations in IL2RG lead to production of a truncated protein.\r\n\r\nEdited by Paula Henthorn, PhD","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Sex reversal, generic (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":900,"omia_phene_id":1589,"omia_record_id":"OMIA:000900-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1589","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201287"}],"characterised":true,"characterised_year":1990,"clinical_features":"Affected Springer Spaniel dogs may be smaller than littermates, and often present with difficulty standing, ataxia, and generalised tremors that typically appear at 10-12 days of age (Griffiths et al., 1981). Death often occurs at 3-4 months of age (Griffiths et al., 1981; Nadon et al., 1990). IT thanks DVM student Judith Browne, who provided the basis of this contribution in May 2023.
Gutierrez-Quintana et al. (2026): \"The most severely affected [English Cocker Spaniel] male pup displayed pronounced generalized tremors, progressive motor dysfunction, and markedly impaired growth.\"","defect":true,"group_name":"Tremor, X-linked","inheritance":{"code":"XLR","name":"X-linked recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010714","iri":"http://purl.obolibrary.org/obo/MONDO_0010714","label":"Pelizeaus-Merzbacher spectrum disorder"}],"name":"Shaking pup","omia_group_id":770,"omia_phene_id":1595,"omia_record_id":"OMIA:000770-9615","publication_ids":[2481,20899,59847,70141,84190,107361,112877,112878,112879,112880,112881,112882,112883,128324,132405],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1595","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Short spine","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":911,"omia_phene_id":1602,"omia_record_id":"OMIA:000911-9615","publication_ids":[111694,111695],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1602","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Shoulder luxation","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":912,"omia_phene_id":1604,"omia_record_id":"OMIA:000912-9615","publication_ids":[54474],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1604","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Sodium-potassium-ATPase, high activity","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":924,"omia_phene_id":1615,"omia_record_id":"OMIA:000924-9615","publication_ids":[11169,28325,88851,113606],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1615","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Brittany Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200239"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Spinal muscular atrophy","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":939,"omia_phene_id":1635,"omia_record_id":"OMIA:000939-9615","publication_ids":[11553,13018,14445,17176,26466,43467,44153,59186,78778,84243,85512,92202,95640,106973,114953],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1635","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Newfoundland (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200938"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Subaortic stenosis","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"From available pedigree evidence in the Newfoundland breed, Pyle et al (1976) concluded that this disorder is polygenic. \r\nFrom a pedigree analysis of \"more than 230,000 Newfoundland dogs from the European and North American population reaching back to the 19th century including 6023 dogs with a SAS diagnosis\", Reist-Marti et al. (2014) concluded that \"The only simple mode of inheritance that fitted the data well was autosomal codominant with lethal homozygosity and a penetrance of 1/3 in the heterozygotes\", which, in effect, is polygenic inheritance.\r\nOhad et al. (2013) provided evidence for autosomal recessive inheritance in Dogue de Bordeaux dogs in Israel.\r\nFrom a pedigree of 45 Newfoundlands, Stern et al. (2014) concluded, in essence, polygenic inheritance.","mondo_terms":[],"name":"","omia_group_id":952,"omia_phene_id":1660,"omia_record_id":"OMIA:000952-9615","publication_ids":[2168,8233,40238,45356,54257,65843,68778,70146,83174,90414,93491,107451,109171,109902,109907,109921,110025,110240,110241,110244,112346,114156,115535,115895,115896,117851,120859,121601,124901,125225,129710],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1660","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Sudden death","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":955,"omia_phene_id":1665,"omia_record_id":"OMIA:000955-9615","publication_ids":[41379,93411],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1665","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Swimming pup syndrome (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Information relating to swimming pup syndrome has been moved to OMIA 000585-9615 : Leg weakness in Canis lupus familiaris [14/10/2021]","omia_group_id":962,"omia_phene_id":1672,"omia_record_id":"OMIA:000962-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1672","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Systemic lupus erythematosus","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":968,"omia_phene_id":1682,"omia_record_id":"OMIA:000968-9615","publication_ids":[35935,37056,40667,55008,59012,65904,71511,85764,86921,88417,89344,101959,109174,109193,115947,116817,117179,122304,124289,126419,128045,132786,132854,133449],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1682","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Tail chasing","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":971,"omia_phene_id":1686,"omia_record_id":"OMIA:000971-9615","publication_ids":[37719,111257,111258,111259,111260,111261,111262,111263,111264,111265,111266,111267,111841,112536,112956],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1686","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Tapetal degeneration","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":980,"omia_phene_id":1699,"omia_record_id":"OMIA:000980-9615","publication_ids":[20382,109838],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1699","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Androgen insensitivity syndrome (AIS)","inheritance":{"code":"X","name":"X-linked"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0019154","iri":"http://purl.obolibrary.org/obo/MONDO_0019154","label":"androgen insensitivity syndrome"}],"name":"","omia_group_id":991,"omia_phene_id":1715,"omia_record_id":"OMIA:000991-9615","publication_ids":[42981,122026],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1715","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Keeshond (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200759"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Tetralogy of Fallot","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":994,"omia_phene_id":1723,"omia_record_id":"OMIA:000994-9615","publication_ids":[63033,73537,82973,88127,98547,109407,117092,127130],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1723","source_release":"retrieved-2026-09-12","summary":"see conotruncal heart malformations in the dog","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Great Pyrenees (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200629"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Otterhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200980"}],"characterised":true,"characterised_year":2000,"clinical_features":"","defect":true,"group_name":"Thrombasthenia","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1000,"omia_phene_id":1728,"omia_record_id":"OMIA:001000-9615","publication_ids":[43824,70046,85251,94388,96353,98711,109389,109390,109567,110170,116407,116408,116409,116411,122436,124968,124969,125867],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1728","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"This disorder occurs in many different forms, many of which are not inherited. As summarised by Żmigrodzka et al. (2014), \"Thrombocytopenia (low platelet count) can occur as a result of a megacaryocyte disorder, disturbance of platelet production as well as their premature destruction. Platelet count can be also decreased due to sequestration of platelets in the tissues . . . . Myeloproliferative bone marrow disorders as well as certain drugs (e.g. oestrogens and chloramphenicol) can alter platelet production in the bone marrow . . . . The most frequent cause of thrombocytopenia is premature platelet destruction due to an abnormal immune response; when no underlying disease is found and aetiological agent remains undetermined IMT is described as primary. Secondary disease can develop in neoplastic conditions (e.g. mammary gland tumour, haemangiosarcoma, and lymphoma), infectious diseases (e.g. babesiosis, leptospirosis, and other bacterial, viral, and parasitic infections), after vaccination with live attenuated viruses (e.g. canine distemper virus), or after drug treatment (e.g. chloramphenicol, cephalosporin, sulphonamides, and gold salts). Rapid platelet consumption is often observed in acute haemorrhage, disseminated intravascular coagulation, or inflammation. Destruction and consumption of platelets are also enhanced in microangiopathies . . . . Common causes of platelet sequestration are splenomegaly, splenic torsion, and sepsis . . . .\"","defect":true,"group_name":"Thrombocytopenia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1001,"omia_phene_id":1729,"omia_record_id":"OMIA:001001-9615","publication_ids":[50580,57518,58466,83265,91140,99730,107334,112245,112247,115047,115700,115701,115702,115703,115704,115705,117303,124989,126659,132963],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1729","source_release":"retrieved-2026-09-12","summary":"See OMIA 002434-9615 : Thrombocytopenia, TUBB1-related in Canis lupus familiaris for this disease in Cavalier King Charles Spaniels and Norfolk and Cairn Terriers","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Thrombocytopathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1002,"omia_phene_id":1730,"omia_record_id":"OMIA:001002-9615","publication_ids":[83619],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1730","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Thrombopathia","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1003,"omia_phene_id":1731,"omia_record_id":"OMIA:001003-9615","publication_ids":[21300,43824,48072,62148,109385,109482,109569,109570,110340,113685,116410,118055,125214],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1731","source_release":"retrieved-2026-09-12","summary":"Boudreaux et al. (2007) reported likely causal variants in Calcium-Diacylglycerol Guanine Nucleotide Exchange Factor I (CalDAG-GEFI) for Landseer, Eskimo Spitz and Basset Hound breeds. Based on NCBI information the gene name was initially listed as RASGRP1 gene in OMIA. A recent BLAST search of the published data identified that the correct gene name is RASGRP2 and information relating to the RASGRP2 variants in these breeds have been moved to: OMIA 002433-9615 : Thrombopathia, RASGRP2-related in Canis lupus familiaris [22/01/2022]","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Thromboxane responsiveness of platelets","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1004,"omia_phene_id":1733,"omia_record_id":"OMIA:001004-9615","publication_ids":[23947],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1733","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Thyroiditis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1005,"omia_phene_id":1735,"omia_record_id":"OMIA:001005-9615","publication_ids":[9306,70017,73108,88290,109194,127450],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1735","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Brittany Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200239"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Danish/swedish Farm Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0000663"},{"name":"English Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200495"},{"name":"Eurasier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200512"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Gordon Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200613"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Norwegian Elkhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200955"},{"name":"Portuguese Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201077"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Transitional lumbosacral vertebrae","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Berg et al. (2025) report heritability for lumbosacral transitional vertebra in 9 dog breeds ranging from 0.056 in the German Shepherd to 0.314 in the Brittany.","mondo_terms":[],"name":"","omia_group_id":1014,"omia_phene_id":1746,"omia_record_id":"OMIA:001014-9615","publication_ids":[40450,86152,112664,116370,117491,117492,117493,117494,117495,117496,117497,117498,117499,117500,121793,126636,127232,129263,129990,131168],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1746","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Tremor","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1016,"omia_phene_id":1749,"omia_record_id":"OMIA:001016-9615","publication_ids":[37813,77208,128499,129560],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1749","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Tremor syndrome with central axonopathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1017,"omia_phene_id":1752,"omia_record_id":"OMIA:001017-9615","publication_ids":[51183],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1752","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Staffordshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200055"},{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Bichon Frise (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200163"},{"name":"Black Russian Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200174"},{"name":"Boerboel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200185"},{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"English Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200485"},{"name":"German Hunting Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200568"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Giant Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200604"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Large Munsterlander (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200816"},{"name":"Lhasa Apso (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200824"},{"name":"Majorca Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200845"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Parson Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200987"},{"name":"Pekingese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200994"},{"name":"Pomeranian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201043"},{"name":"Poodle, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201056"},{"name":"Scottish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201198"},{"name":"Spanish Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201280"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":true,"characterised_year":2008,"clinical_features":"Individuals with a mutation at the SLC2A9 gene accumulate uric acid due to inefficient transport of uric acid in both the liver and renal proximal tubules (Bannasch et al., 2008). High levels of uric acid excretion predispose the formation of ammonium urate uroliths (Bartges and Callens, 2015). Clinical signs are secondary to urate urolith formation in the ureter, bladder, and urethra. Uroliths are more commonly reported in male dogs with the first episode of calculus formation in Dalmatians in males at about 4.5 years and in females at 5.5 years of age (Case et al. 1993). Affected \"dogs may have pollakiuria or hematuria, or they may be asymptomatic. Small uroliths may be voided in urine, or the urine may be turbid. If urethral obstruction is present, owners may notice the dog attempting to urinate and not voiding any urine or systemic signs of obstructive uropathy (i.e., anorexia, vomiting, muscle fasciculations, depression, collapse). Urate nephroliths may be asymptomatic or may be associated with silent gross hematuria. Nephroliths that obstruct both renal pelves or both ureters are associated with systemic signs of postrenal azotemia\" (Bartges et al. 1999) Systemically, hyperkalemia, metabolic acidosis, and dehydration can be observed in some animals (Bartges and Callens, 2015). IT thanks DVM student Nancy Wang, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Urolithiasis","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Hyperuricosuria and hyperuricemia","omia_group_id":1033,"omia_phene_id":1768,"omia_record_id":"OMIA:001033-9615","publication_ids":[161,1511,2682,4289,7182,7273,7853,40571,42353,42418,81729,84011,84041,84111,84121,84868,85018,85074,85076,85099,85103,85105,85116,85125,85126,85135,85138,85144,85158,85160,85167,85175,85941,86831,93102,98065,106405,107080,107173,107268,107269,107403,107405,107436,109366,109367,109368,109458,109759,109833,110090,110091,110092,111350,114682,115215,115714,115715,115716,115717,115718,115719,116902,122362,122363,122364,122369,122371,122996,123321,123322,123979,124287,125202,125653,125661,127588,127589,127590,127591,127592,128126,132530],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1768","source_release":"retrieved-2026-09-12","summary":"This entry focuses on hyperuricosuria and hyperuricemia and resulting urate urolithiasis. Not all dogs with hyperuricosuria and hyperuricemia will develop urolithiasis. For cystine urolithiasis see various entries for cystinuria: OMIA:000256-9615 : Cystinuria, type I - A in Canis lupus familiaris (dog), OMIA:001879-9615: Cystinuria, type II - A in Canis lupus familiaris (dog), OMIA:001880-9615 : Cystinuria, type II - B in Canis lupus familiaris (dog), OMIA:001881-9615 : Cystinuria, type III in Canis lupus familiaris (dog). The reference list below includes some papers relating to other forms of urolithiasis (e.g. calcium oxalate or struvites) and it is noted that some forms of urolithiasis do not have a genetic aetiology. For example, any cause of severe hepatic dysfunction may predispose dogs to urate lithogenesis (Bartges et al., 1999).","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Urolith, cystine","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Cystinuria","omia_group_id":1031,"omia_phene_id":1771,"omia_record_id":"OMIA:001031-9615","publication_ids":[49223,107404,126324],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1771","source_release":"retrieved-2026-09-12","summary":"See also OMIA:001033-9615: Urolithiasis in Canis lupus familiaris (dog), OMIA:000256-9615 : Cystinuria, type I - A in Canis lupus familiaris (dog), OMIA:001879-9615: Cystinuria, type II - A in Canis lupus familiaris (dog), OMIA:001880-9615 : Cystinuria, type II - B in Canis lupus familiaris (dog), OMIA:001881-9615 : Cystinuria, type III in Canis lupus familiaris (dog)","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Valvular pulmonic stenosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1038,"omia_phene_id":1779,"omia_record_id":"OMIA:001038-9615","publication_ids":[40685,70438,73537,113593,114660,116136,123052,125307,132510],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1779","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Various disorders","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1039,"omia_phene_id":1782,"omia_record_id":"OMIA:001039-9615","publication_ids":[7685,7725,7974,10626,20814,61804,70881,73589,73606,74291,74699,84245,85627,86581,87613,92097,92150,92251,92466,92582],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1782","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Leonberger (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200819"},{"name":"Rhodesian Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201135"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ventricular arrhythmias and sudden death","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1040,"omia_phene_id":1785,"omia_record_id":"OMIA:001040-9615","publication_ids":[52385,65518,66877,76628,86298,87662,93411,94289,110382,110383,110384,110669,110670,110671,110672,110673,110674,110675,110676,110677,110679,110680,110681,110682,119272,120391,125623,126550],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1785","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ventricular septal defect","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1041,"omia_phene_id":1788,"omia_record_id":"OMIA:001041-9615","publication_ids":[7845,42236,60764,62658,85377,94837,94849,106560,107267,110023,110025,110244,111960,113593,114091,116136,116138,116139,118049,120859,125092,125307,129496],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1788","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Vitiligo","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1055,"omia_phene_id":1805,"omia_record_id":"OMIA:001055-9615","publication_ids":[43501,122150,122151,122152,126755],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1805","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Von Willebrand disease, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1056,"omia_phene_id":1807,"omia_record_id":"OMIA:001056-9615","publication_ids":[8437,9997,10411,11665,13267,13940,15584,20918,22378,24242,24364,25661,25694,26590,26802,27419,28188,28399,28418,31288,34382,34404,38355,42187,44979,50685,51189,59899,60301,60611,62000,62128,62657,63229,68805,69330,69381,69386,69572,69710,70867,74403,78212,78306,83034,83619,83981,85026,85251,86026,86848,87312,87359,93547,107450,109456,111181,113689,113690,114816,114838,117787,123198,123199,123200,123201,123202,125867],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1807","source_release":"retrieved-2026-09-12","summary":"see also OMIA:001057-9615 : Von Willebrand disease I in Canis lupus familiaris, OMIA:01339-9615 : Von Willebrand disease II in Canis lupus familiaris and OMIA:001058-9615 : Von Willebrand disease III in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"Kromfohrlander (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200786"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":true,"characterised_year":1998,"clinical_features":"Type I von Willebrand disease involves a quantitative partial deficiency of von Willebrand factor, which is a protein involved in blood clotting (Boudreaux, 2012). Clinical features can be characterised as increased bleeding tendency. However, this can be variable. Excessive prolonged bleeding from minor wounds, tooth eruptions, heat or surgical incision are observed in clinically affected dogs with low vWF (Barr & McMichael, 2012; Dodds, 1984). Sudden gingival bleeding, epistaxis, gastrointestinal bleeding, haematuria, subcutaneous haematomas, petechiae can also occur (Thomas, 1996). VWD poses a significant risk in surgery or trauma, where clotting function is very important (Thomas, 1996). Treatment of affected dogs is possible (Thomas, 1996). [IT thanks DVM students MacKenzie Anderson and Jesse Wong, who provided the basis of this contribution in April 2022]","defect":true,"group_name":"Von Willebrand disease I","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"Dodds (1984) and Segert et al. (2019) report the mode of inheritance as autosomal dominant with incomplete penetrance in Doberman Pinscher and Kromfohrländer. In other breeds a recessive mode of inheritance has been proposed (Segert et al. 2019).","mondo_terms":[],"name":"Disease is also called Type 1 von Willebrand Disease, vWDI, angiohaemophillia, von Willebrand disorder, von Willebrand factor deficiency","omia_group_id":1057,"omia_phene_id":1811,"omia_record_id":"OMIA:001057-9615","publication_ids":[43824,63755,79265,80692,85251,87541,90355,94237,95627,103225,106950,107794,113685,113689,113690,114639,114837,116385,116893,119279,119424,119425,121278,122524,123197,123198,123199,123200,123201,123202,123917,125653,125867,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1811","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"Havanese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200662"},{"name":"Nederlandse Kooikerhondje (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200932"},{"name":"Scottish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201198"},{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"}],"characterised":true,"characterised_year":1998,"clinical_features":"","defect":true,"group_name":"Von Willebrand disease III","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"Venta et al. (2000) report that type 3 von Willebrand's disease is inherited as an autosomal recessive trait in Scottish terriers. Armas-Jimenez (2025) also reported an autosomal recessive mode of inheritance for type 3 von Willebrand's disease in Havanese dogs.","mondo_terms":[],"name":"","omia_group_id":1058,"omia_phene_id":1812,"omia_record_id":"OMIA:001058-9615","publication_ids":[43824,43980,80692,82271,82702,85251,86359,90450,107254,109666,113685,113689,113690,116385,117892,122436,123197,123201,123202,125867,128661,130148],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1812","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Bedlington Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200137"},{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"}],"characterised":true,"characterised_year":2016,"clinical_features":"","defect":true,"group_name":"Wilson disease","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010200","iri":"http://purl.obolibrary.org/obo/MONDO_0010200","label":"Wilson disease"}],"name":"copper toxicosis; copper storage disease, copper-associated hepatitis, copper-associated chronic hepatitis (CACH)","omia_group_id":1071,"omia_phene_id":1826,"omia_record_id":"OMIA:001071-9615","publication_ids":[16498,30968,54127,54128,57357,71542,80341,81114,83033,88568,97540,102948,108338,108809,108810,112545,115446,116301,117011,117197,117198,119174,119381,119683,119729,120022,120843,121000,121367,121968,122498,122845,123273,124002,124708,124709,125685,125907,126252,127424,129662,130739,130794,132144],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1826","source_release":"retrieved-2026-09-12","summary":"Excessive copper deposition leading to copper toxicosis is a complex genetic disorder that can lead to copper-associated chronic hepatitis. In Labrador retrievers accumulation of hepatic copper levels has been partly explained by a variant in the ATP7B gene (c.4358G>A) and proposed genetic modifiers of copper toxicosis in the ATP7A and RETN gene (see 'OMIA:002608-9615 Modifier of copper toxicosis, ATP7A-related in Canis lupus familiaris' and OMIA:002609-9615 Modifier of copper toxicosis, RETN-related in Canis lupus familiaris'). For information on a different form of copper toxicosis in Bedlington Terriers due to variants in the COMMD1 gene see: 'OMIA00:1988-9615 : Copper toxicosis, COMMD1-related'","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Acetabular dystrophy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1129,"omia_phene_id":1837,"omia_record_id":"OMIA:001129-9615","publication_ids":[7639],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1837","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Chondrodystrophy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":189,"omia_phene_id":1838,"omia_record_id":"OMIA:000189-9615","publication_ids":[70993,112997,118121],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1838","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Spondylosis deformans","inheritance":null,"inheritance_text":"This is a multifactorial disorder. Using radiographic data from 353 offspring of 24 sires in the Boxer breed, Langeland and Lingaas (1995) estimated heritability from half-sib correlation and from offspring-parent regression. For maximum degree of osteophyte development, the estimates were 0.42 and 0.62, respectively. For the number of affected discs, the estimates were 0.47 and 0.13, respectively. The same authors also observed a positive phenotypic correlation between spondylosis deformans and hip dysplasia.","mondo_terms":[],"name":"","omia_group_id":1132,"omia_phene_id":1842,"omia_record_id":"OMIA:001132-9615","publication_ids":[9432,58515,107407,119088,133300],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1842","source_release":"retrieved-2026-09-12","summary":"This is a multifactorial disorder assessed via a radiograph. It appears to be positively correlated to hip dysplasia.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Masticatory muscle myositis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Inflammatory myopathy of masticatory muscles, focal inflammatory myopathy, canine masticatory muscle myositis","omia_group_id":1134,"omia_phene_id":1844,"omia_record_id":"OMIA:001134-9615","publication_ids":[58762,126608,132382],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1844","source_release":"retrieved-2026-09-12","summary":"Canine masticatory muscle myositis (CMMM) is an immunologically mediated canine myopathy, which affects only muscles of the masticatory muscle group (Vilafranca et al. 1995; Wu et al. 2007). The pathogenesis of MMM is not fully understood.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Respiratory distress syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":101,"omia_phene_id":1845,"omia_record_id":"OMIA:000101-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1845","source_release":"retrieved-2026-09-12","summary":"Redundant - Information previously listed here has been moved to OMIA:002539-9615 : Respiratory distress syndrome, ANLN-related in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Bernese Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200161"},{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"Cairn Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200267"},{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"Finnish Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200522"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Leonberger (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200819"},{"name":"Nederlandse Kooikerhondje (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200932"},{"name":"Rhodesian Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201135"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Renal dysplasia","inheritance":null,"inheritance_text":"From a segregation analysis, Bovee (2003) concluded that the inheritance of this disorder is autosomal dominant with incomplete penetrance in the Shih Tzu breed.","mondo_terms":[],"name":"","omia_group_id":1135,"omia_phene_id":1851,"omia_record_id":"OMIA:001135-9615","publication_ids":[14562,58978,70911,73237,78410,79841,84383,89555,93522,110336,110337,110338,110339,115584,115597,116979,116980,122343,127444],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1851","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Nova Scotia Duck Tolling Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200964"}],"characterised":true,"characterised_year":2015,"clinical_features":"","defect":true,"group_name":"Cleft lip with or without cleft palate, ADAMTS20-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"orofacial cleft; palatoschisis","omia_group_id":1140,"omia_phene_id":1892,"omia_record_id":"OMIA:001140-9615","publication_ids":[115567,115972,117705,123356,123357],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1892","source_release":"retrieved-2026-09-12","summary":"See 'OMIA:001919-9615 : Cleft palate 1, DLX6-related' for a different form of cleft palate in Nova Scotia Duck Tolling retrievers.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Neuropathy, peripheral","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1150,"omia_phene_id":1919,"omia_record_id":"OMIA:001150-9615","publication_ids":[31653,122315],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1919","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pulmonary stenosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":842,"omia_phene_id":1932,"omia_record_id":"OMIA:000842-9615","publication_ids":[14203,68872,98812,103150,107222,107626,109902,109903,110025,110224,110244,117424,117851,120859,122061,124362,124901,129644,129710],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1932","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Polysaccharide storage myopathy/PSSM1/Exertional rhabdomyolysis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1158,"omia_phene_id":1933,"omia_record_id":"OMIA:001158-9615","publication_ids":[58934,68073],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1933","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Myelopathy (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Information previously presented here has been moved to 'OMIA 000263-9615 : Degenerative myelopathy in Canis lupus familiaris' [23/10/2022]","omia_group_id":1162,"omia_phene_id":1939,"omia_record_id":"OMIA:001162-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1939","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Neuronal abiotrophy (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1164,"omia_phene_id":1941,"omia_record_id":"OMIA:001164-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1941","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Afghan Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200004"},{"name":"American Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200038"},{"name":"American Pit Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200054"},{"name":"American Staffordshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200055"},{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Bernese Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200161"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Brussels Griffon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200241"},{"name":"Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200255"},{"name":"Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200258"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"German Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201454"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Kerry Blue Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200764"},{"name":"Norwegian Elkhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200955"},{"name":"Podenco (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201026"},{"name":"Pug (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201089"},{"name":"Soft Coated Wheaten Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201260"},{"name":"Tibetan Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201353"},{"name":"Treeing Walker Coonhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201374"},{"name":"Vizsla (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201389"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"},{"name":"Wheaten Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201420"}],"characterised":false,"characterised_year":null,"clinical_features":"Affected dogs (XX male, testicular XX DSD) are most appear as bilaterally cryptorchid male dogs, but have a caudally displaced and pendulous prepuce and hypoplastic penis. Mild hypospadias may also be present. These dogs are sterile (Meyers-Wallen et al., 1988). Variable degrees of masculinization are found in affected dogs with ovotestes (XX true hermaphrodite, ovotesticular DSD). Those most masculinized have an enlarged clitoris containing a bone and/or a misshapen vulva that resembles a prepuce. Clitoral enlargement may be noted within a few months of age or at puberty. Many XX true hermaphrodites in the ACS studies had an apparently normal female external phenotype (Meyers-Wallen and Patterson 1988). Affected dogs with ovotestes may exhibit estrous cycles and rarely, produce offspring. Both XX males and XX true hermaphrodites can occur within the same litter or in the same pedigree.","defect":true,"group_name":"XX difference of sexual development, generic","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"The mode of inheritance in a large American cocker spaniel/Beagle model pedigree bred since 1982 specifically to study the genetics of this disorder was initially thought to be sex-limited autosomal recessive (Meyers-Wallen and Patterson, 1988), but more recent results from the same pedigree led Meyers-Wallen et al. (2017) to conclude \"that simple Mendelian inheritance alone was insufficient to account for XX DSD expression\" in this pedigree. Both XX males and XX true hermaphrodites can occur within the same litter or pedigree. The disorder in the ACS is very similar to the form of human XX DSD where testicular DSD and ovotesticular DSD occur in siblings or within the larger family (Meyers-Wallen, 2011). The mode of inheritance is not established for the other dog breeds in which this trait has been identified. The causative mutation in all breeds is unknown. In breeds that are closely related, the disorder is likely to be caused by the same mutation, and therefore have the same mode of inheritance. In unrelated breeds this disorder may be genetically heterogeneous (Meyers-Wallen et al., 1999).","mondo_terms":[{"id":"MONDO:0017576","iri":"http://purl.obolibrary.org/obo/MONDO_0017576","label":"46,XX disorder of sex development"}],"name":"XX sex reversal, XX DSD testicular/ovotesticular","omia_group_id":901,"omia_phene_id":1946,"omia_record_id":"OMIA:000901-9615","publication_ids":[5320,10806,12086,13944,20570,21950,42812,51891,59985,62292,71587,85177,89339,89480,107047,107227,107228,110750,110751,111421,111597,111598,111599,111600,111601,111602,111603,111604,111605,111606,111607,111608,111609,112557,115986,115990,116891,117796,117797,117973,117974,119629,120525,120962,122464,123311,123548,123953,129846,131370,133118],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1946","source_release":"retrieved-2026-09-12","summary":"Canine XX sex reversal is a type of XX disorder of sexual development (XX DSD, Pasterski et al 2010) characterized by presence of testicular tissue in the gonads and varying degrees of phenotypic masculinization in dogs that have a female karyotype (78, XX). As both Sry and the Y chromosome are absent in affected dogs, it is called Sry-negative XX sex reversal. Diagnosis is dependent upon karyotype (78,XX), PCR assay confirming that Sry is absent, and histology confirming the presence of testicular tissue in the gonads. This XX DSD has been identified in at least 28 pure bred dogs. It has been most extensively studied in the American cocker spaniel (ACS), in which the mode of inheritance is sex-limited autosomal recessive. Studies in the ACS indicate that approximately 10% of affected dogs develop bilateral testes (XX male, testicular XX DSD) and 90% develop ovotestes ( XX true hermaphrodite, ovotesticular XX DSD). Affected dogs with bilateral testes are sterile, as are most with ovotestes. However, affected dogs in the latter category have rarely reproduced as females. Carrier dogs are fertile. To prevent production of affected dogs, breeding of affected or known carrier dogs should be avoided. SRY-negative XX sex reversal has now been reported in at least 28 breeds and mixed breeds, although not all were tested for SRY, as the PCR assay for canine SRY was not available prior to 1995 ([Meyers-Wallen et al., 1995a) . While this disorder may be genetically heterogeneous in the dog population in general, the mutation is likely to be identical by descent in closely related breeds, such as English and American cocker spaniels. Normal mammalian prenatal sexual development depends upon the serial completion of three steps. The first is normal segregation of the sex chromosomes into the gametes, so that at fertilization, the zygote contains two sex chromosomes, either XX or XY. The second step is to translate chromosomal sex into gonadal sex, with XX individuals developing an ovary and XY individuals developing a testis. In mammals, gonadal sex is determined by genes on the autosomes and sex chromosomes. The third step is differentiation of the internal and external genitalia, which depends upon testicular hormones and their receptors and signaling pathways in target organs. Masculinization of the genitalia occurs in response to testis hormones, whereas female genitalia develop in their absence. Gonadal development begins with the emergence of the bipotential gonad. Shortly thereafter in XY embryos, a gene on the Y chromosome, SRY (sex determining region Y), dramatically upregulates an autosomal gene, SOX9 (SRY related HMG-box protein 9) during the critical period for Sertoli cell differentiation, which initiates testis development. Several other genes play a role in upregulating and maintaining SOX9 expression in the testis. In the ovarian pathway, R-spondin1 (RSPO1), a gene in the wingless-related protein family (WNT) signaling pathway, has a role in suppressing SOX9-mediated testis pathways in the developing ovary (reviewed in Jakob and Lovell-Badge, 2011). Both WNT4 and RSPO1 signaling lead to an increase in stabilized beta catenin. Recent evidence indicates that SOX9 and beta catenin act antagonistically (reviewed in Jakob and Lovell-Badge, 2011). Changes in gene expression in either the testis or ovarian pathway can disrupt gonadal development, leading to development of testes or ovotestes in XX individuals. Molecular mechanisms reported for development of testes or ovotestes in XX individuals of other species include: 1) SOX9 upregulation during gonadal development induces testis development, either by duplication of SOX9 in XX humans (Huang et al 1999, Cox et al 2011, Vetro et al 2011) or by transgenic manipulation in XX mice (Bishop et al. 2000). 2) Mutations that eliminate or reduce RSPO1 expression. A null RSPO1 mutation induced testis development in related XX individuals (Parma et al. 2006), while a different RSPO1 mutation induced ovotestis development in another family (Tomaselli et al. 2008). Transgenic RSPO1 null mice develop ovotestes, not testes (Chassot et al. 2008). 3) SOX3 upregulation during gonadal development induces testis development, either by genomic rearrangement of its regulatory regions in XX humans, or transgenically in XX mice (Sutton et al. 2011). 4) Mutations that eliminate FOXL2 or PISRT1 expression induce testis development in XX polled goats (Pailhoux et al. 2001, Pannetier et al. 2005). This mechanism has not been identified as a cause of XX sex reversal in other species, and human FOXL2 mutations are associated with premature ovarian failure (De Baere et al. 2003). The ACS model is strikingly similar to the subcategory of human XX DSD in which testes or ovotestes develop in 46,XX siblings, or within the same family, and the genetic defect is unknown [Skordis et al., 1987; Ostrer et al., 1989; Palmer et al., 1989; Kuhnle et al., 1993; Ramos et al., 1996; Slaney et al., 1998]. No candidate genes have yet been linked to the affected phenotype in dogs from the ACS research model (Kothapalli et al., 2003; Kothapalli et al., 2004; Kothapalli et al., 2005; Kothapalli et al., 2006; Pujar et al., 2005). ]. Exon scanning ruled out mutations in the coding region of canine RSPO1 in affected dogs of most breeds in which XX DSD has been reported [DeLorenzi et al., 2008]. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT in 2001; updated by FN in 2015.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Fragmented coronoid process","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1167,"omia_phene_id":1947,"omia_record_id":"OMIA:001167-9615","publication_ids":[60224,63449,80815,87418,101981,102023,109843,109845,109847,109848,109849,109850,109853,109854,109855,109856,109857,109859,109861,109862,109864,109865,115436],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1947","source_release":"retrieved-2026-09-12","summary":"see also 'OMIA 001863-9615 : Medial coronoid disease in Canis lupus familiaris'","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Myopathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":693,"omia_phene_id":1948,"omia_record_id":"OMIA:000693-9615","publication_ids":[7228,64989,111517,111520,125472,129971,130005],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1948","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ascites","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1169,"omia_phene_id":1953,"omia_record_id":"OMIA:001169-9615","publication_ids":[19284,42159,77243,82073],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1953","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Osteodystrophy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":753,"omia_phene_id":1955,"omia_record_id":"OMIA:000753-9615","publication_ids":[8135,86953,100692,102023,107896,115096,117032,122423,124171],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1955","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Reduced glutathione deficiency, unclassified","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1235,"omia_phene_id":1959,"omia_record_id":"OMIA:001235-9615","publication_ids":[29340],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1959","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hyperlipidaemia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1160,"omia_phene_id":1961,"omia_record_id":"OMIA:001160-9615","publication_ids":[11630,43267,59384,109446,115275,115516,129144],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1961","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Genu valgum","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1172,"omia_phene_id":1964,"omia_record_id":"OMIA:001172-9615","publication_ids":[59301],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1964","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Polyuria","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1177,"omia_phene_id":1976,"omia_record_id":"OMIA:001177-9615","publication_ids":[59805],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1976","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"Slappendel et al. (1991): \"The main clinical problems were diarrhoea, icterus, and ataxia and paresis of the pelvic limbs. Laboratory evaluation revealed abnormal red cell shape (stomatocytosis), increased osmotic fragility, haemolytic anaemia, and increased liver enzymes and serum bilirubin. Gastroscopic and histopathologic examination of the gastric mucosa revealed hypertrophic gastritis resembling Ménétrier's disease in man. ... Electroneurography in 2 dogs revealed polyneuropathy.\"","defect":true,"group_name":"Stomatocytosis and gastritis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Familial stomatocytosis hypertrophic gastritis","omia_group_id":1178,"omia_phene_id":1977,"omia_record_id":"OMIA:001178-9615","publication_ids":[26874,129499],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1977","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"Leonberger (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200819"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Polyglandular autoimmune syndrome, type II","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1179,"omia_phene_id":1978,"omia_record_id":"OMIA:001179-9615","publication_ids":[60295,116846],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1978","source_release":"retrieved-2026-09-12","summary":"see also 'OMIA 001808-9615 : Multiple autoimmune diseases syndrome in Canis lupus familiaris'","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Atrial fibrillation","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1181,"omia_phene_id":1989,"omia_record_id":"OMIA:001181-9615","publication_ids":[60172,82710,117308,118820,120394,121001,122655,124808,125015,126836,130634],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1989","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Pit Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200054"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Retinal and skeletal dysplasia","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"Rodarte-Almeida et al. (2016) suggested autosomal dominant inheritance in a colony of American pit bull terriers.","mondo_terms":[],"name":"","omia_group_id":1182,"omia_phene_id":1992,"omia_record_id":"OMIA:001182-9615","publication_ids":[30151,60186,117233],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:1992","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Bullous pemphigoid","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1183,"omia_phene_id":1993,"omia_record_id":"OMIA:001183-9615","publication_ids":[60410,89238,124289],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1993","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Amyloidosis, AA","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":38,"omia_phene_id":1994,"omia_record_id":"OMIA:000038-9615","publication_ids":[60523,63982,66206,112198,115074,122385,129750],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1994","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Alloimmune haemolytic anaemia of the newborn","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":28,"omia_phene_id":1996,"omia_record_id":"OMIA:000028-9615","publication_ids":[58557,60430],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1996","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Retinoschisis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1185,"omia_phene_id":1999,"omia_record_id":"OMIA:001185-9615","publication_ids":[60646,126254,126255],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:1999","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hemivertebrae","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"As reported by Schlensker and Distl (2015), \"Heritability estimates for the number and grade of hemivertebrae were 0.58 and 0.53, respectively. The number of coccygeal vertebrae showed a heritability estimate of 0.35. In addition, the number of coccygeal vertebrae was negatively correlated with the number and grade of hemivertebrae. The prevalence of hemivertebrae could increase if dogs with shorter tails are preferentially selected for breeding purposes.\"","mondo_terms":[],"name":"","omia_group_id":1191,"omia_phene_id":2015,"omia_record_id":"OMIA:001191-9615","publication_ids":[9730,107714,107715,114669,116163,116164,116165,116166,116167,116168,122069,127072,127232,127715,128475,129157,133323],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2015","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ectromelia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1126,"omia_phene_id":2027,"omia_record_id":"OMIA:001126-9615","publication_ids":[111878],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2027","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Nodular dermatofibrosis and kidney disease (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1195,"omia_phene_id":2034,"omia_record_id":"OMIA:001195-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2034","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypergammaglobulinaemia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1196,"omia_phene_id":2035,"omia_record_id":"OMIA:001196-9615","publication_ids":[61727,82155],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2035","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Horner syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1197,"omia_phene_id":2037,"omia_record_id":"OMIA:001197-9615","publication_ids":[61975,63207,71506,83162,88638,95623,99374,125249],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2037","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ataxia, progressive","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1091,"omia_phene_id":2044,"omia_record_id":"OMIA:001091-9615","publication_ids":[62302],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2044","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200034"},{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"Chow Chow (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200361"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"},{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Staffordshire Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201296"}],"characterised":true,"characterised_year":1999,"clinical_features":"Signs in miniature schnauzers include a stiff gait most pronounced at the onset of movement and during rapid changes in posture (turning quickly, falling), which may diminish with exercise. Other signs include severe skeletal muscle hypertrophy, difficulty rising, increased respiratory sounds, difficulty swallowing, and ptyalism beginning around 2 to 3 months of age. Associated superior prognathism may be a closely segregating trait (Gracis et al., 2000). Signs in the Australian cattle dog are similar, including skeletal muscle hypertrophy and generalized stiffness (Finnigan et al., 2007).
Two French bulldogs reported by Shelton et al. (2024) presented with muscle hypertrophy, swallowing disorders, and gait abnormalities.","defect":true,"group_name":"Myotonia","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Although heterozygotes have heterodimeric chloride channels in their skeletal muscle, they appear clinically normal (Rhodes et al., 1999). Rodrigues et al. (2020) \"The family history and pedigree analysis suggested an autosomal recessive inheritance pattern [in American Bulldogs]....\"","mondo_terms":[{"id":"MONDO:0009710","iri":"http://purl.obolibrary.org/obo/MONDO_0009710","label":"Thomsen and Becker disease"}],"name":"","omia_group_id":698,"omia_phene_id":2053,"omia_record_id":"OMIA:000698-9615","publication_ids":[3859,7244,63157,80668,84274,86712,88228,102320,103396,108756,109404,110539,112829,112830,112831,112832,114989,116893,118751,122597,122598,122599,122600,122601,122714,125001,125824,127249,127575,128868],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2053","source_release":"retrieved-2026-09-12","summary":"Myotonia is a chloride channel disorder characterized by delayed skeletal muscle relaxation after contraction. Predominant signs include a stiff gait and skeletal muscle hypertrophy. Genetic tests are available for the miniature schnauzer and Australian cattle dog. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Myelin defect (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1204,"omia_phene_id":2054,"omia_record_id":"OMIA:001204-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2054","source_release":"retrieved-2026-09-12","summary":"Information previously listed here has been moved to 'OMIA 002214-9615 : Leukodystrophy, cavitating in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Alaskan Malamute (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200017"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200375"},{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"English Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200485"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Irish Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200702"},{"name":"Pekingese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200994"},{"name":"Poodle, Toy (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201061"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Samoyed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201174"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"},{"name":"West Highland White Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201415"}],"characterised":true,"characterised_year":2013,"clinical_features":"","defect":true,"group_name":"Spinal dysraphism","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"In Weimaraner dogs the condition has an autosomal recessive mode of inheritance. Sporadic forms that may not be heritable have been reported in many other breeds.","mondo_terms":[],"name":"","omia_group_id":938,"omia_phene_id":2055,"omia_record_id":"OMIA:000938-9615","publication_ids":[6503,7075,26368,108957,114667,114668,114669,114670,114671,114672,114673,114674,114675,114676,116278,125200,127714,127715,132518],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2055","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200765"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Budd-chiari syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1203,"omia_phene_id":2059,"omia_record_id":"OMIA:001203-9615","publication_ids":[19284,80938,94615,96118,106456,108796,112521,112934,116753],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2059","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Alaskan Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200015"},{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Pyrenean Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201113"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Laryngeal paralysis, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1206,"omia_phene_id":2063,"omia_record_id":"OMIA:001206-9615","publication_ids":[46741,56163,63836,83255,97398,109110,109480,115458,117070,121068,123888,123889,123890,126999],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2063","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Central Asian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200321"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":true,"characterised_year":2003,"clinical_features":"","defect":true,"group_name":"Epidermolysis bullosa, dystrophic","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Recessive dystrophic epidermolysis bullosa (RDEB)","omia_group_id":341,"omia_phene_id":2071,"omia_record_id":"OMIA:000341-9615","publication_ids":[64100,91550,107457,110279,110280,117612,121082,122573,123125],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2071","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Tachycardia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":969,"omia_phene_id":2072,"omia_record_id":"OMIA:000969-9615","publication_ids":[64252,65518,66877,72556],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2072","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Neuropathy, giant axonal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1207,"omia_phene_id":2073,"omia_record_id":"OMIA:001207-9615","publication_ids":[64262],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2073","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Bernese Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200161"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Poodle, Toy (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201061"},{"name":"Scottish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201198"}],"characterised":true,"characterised_year":2016,"clinical_features":"Alexander disease is a progressive fatal neurodegenerative disease. The observed cases have been found in younger dogs, usually <12 months of age (Wrzosek et al., 2015). Early signs may begin as incoordination, a head tilt, knuckling on limbs, issues with balance, nystagmus and an aversion to touch (Wrzosek et al., 2015). As the disease progresses clinical features are ataxia and paresis in the hindlimbs (Kobatake et al., 2020) and in later stages tetraparesis (Van Poucke et al., 2016). Some patients may experience spastic front limbs along with vestibular signs (e.g., head tilt, strabismus) and myoclonic jerks of the head and cervical regions (Van Poucke et al., 2016). Generalised muscle atrophy, stiffness, regurgitation, increasing difficulty in swallowing and changes in vocalisation can be observed (Van Poucke et al., 2016; Kobatake et al., 2020). [IT thanks DVM students Bri Pepper and Carmen Tu for contributions to this entry in April 2022]","defect":true,"group_name":"Alexander disease","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0008752","iri":"http://purl.obolibrary.org/obo/MONDO_0008752","label":"Alexander disease"}],"name":"Fibrinoid leukodystrophy, fibrinoid encephalomyelopathy","omia_group_id":1208,"omia_phene_id":2074,"omia_record_id":"OMIA:001208-9615","publication_ids":[64718,110053,110054,110055,117604,121870,123390,123391,123392,123393,124170,128324,132518],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2074","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Spina bifida","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":933,"omia_phene_id":2078,"omia_record_id":"OMIA:000933-9615","publication_ids":[8210,114669,116278,121225,125200,126316,127232,129493,132346],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2078","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Coloboma","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":219,"omia_phene_id":2081,"omia_record_id":"OMIA:000219-9615","publication_ids":[6726,7015,122708,125219],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2081","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypertrichosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":513,"omia_phene_id":2095,"omia_record_id":"OMIA:000513-9615","publication_ids":[66338],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2095","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Staffordshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200055"}],"characterised":true,"characterised_year":2018,"clinical_features":"Osteochondromatosis is a skeletal developmental disorder that results in exostoses (cartilage capped bone outgrowths) that develop during the growth period (Pacifici, 2017). Depending on the location and size of the exostoses, osteochondromatosis can clinically present asymptotically, or can cause pain, lameness, paresis and paralysis (Czerwik et al. 2019). Clinical signs often occur due to compression of nearby tissues, including nerve root compression (causing pain) or spinal cord compression (causing paralysis) (Friedenberg et al., 2018). [IT thanks DVM student Lilli Wilhelm, who provided the basis of this contribution in April 2022]","defect":true,"group_name":"Osteochondromatosis, EXT2-related","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"also called: multiple osteochondromas, multiple hereditary exostoses, multiple cartilaginous exostoses, diaphyseal aclasis and hereditary deforming chondrodysplasia","omia_group_id":1214,"omia_phene_id":2103,"omia_record_id":"OMIA:001214-9615","publication_ids":[6186,40370,64237,65655,115096,117957,117958,117959,120920,120921,120922,120923,120924,120925,123335,123336,123337],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2103","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Dermatosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1219,"omia_phene_id":2106,"omia_record_id":"OMIA:001219-9615","publication_ids":[73232,76696,86019,88331,119935],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2106","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200638"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Vasculopathy, cutaneous and renal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1220,"omia_phene_id":2107,"omia_record_id":"OMIA:001220-9615","publication_ids":[65165,74474,74502,74573,80542,110636,110637,123734],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2107","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cerebellar cortical atrophy","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Olby et a. (2004) provided reasonable evidence supporting autosomal recessive inheritance in a family of American Staffordshire Terriers. A likely disease causing mutation has been identified in this breed - see 'lysosomal storage disease, ARSG related' (OMIA001503-9615) for further details.","mondo_terms":[],"name":"","omia_group_id":177,"omia_phene_id":2109,"omia_record_id":"OMIA:000177-9615","publication_ids":[21759,93212,106513,107467,108320,121013,125285],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2109","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Briard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200234"}],"characterised":true,"characterised_year":1998,"clinical_features":"Kondo et al. (2015) reported that the diagnosis of this disorder as congenital stationary night blindness by Narfström et al. (1989) was actually incorrect, and that the disorder described in this OMIA entry is not actually congenital stationary night blindness. Kondo et al. (2015) do not provide any suggestions as to the correct diagnosis.","defect":true,"group_name":"Leber congenital amaurosis","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Retinal dystrophy; congenital stationary night blindness (CSNB)","omia_group_id":1222,"omia_phene_id":2111,"omia_record_id":"OMIA:001222-9615","publication_ids":[18894,65680,73192,73365,75942,79078,82101,86541,96016,96253,103240,103363,103513,106333,107905,107906,107907,107908,107909,108313,108333,108806,109158,109159,109160,109161,109351,109369,109381,110402,112004,112120,113539,114372,114608,115721,116238,117834,120070,120515,123310,123876,123911,124796,125219,128526,129012,129328,129668,129719,129760,130075],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2111","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Siberian Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201233"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Goniodysgenesis","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Pugh et al. (2019): \"Analysis of pedigree information was consistent with an autosomal recessive mode of inheritance for severe goniodysgenesis (potentially leading to glaucoma) in this breed.\"","mondo_terms":[],"name":"","omia_group_id":1223,"omia_phene_id":2115,"omia_record_id":"OMIA:001223-9615","publication_ids":[65198,68082,114740,114927,116307,118395,118396,118397,118398,119296,125219],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2115","source_release":"retrieved-2026-09-12","summary":"Genetics Committee of the American College of Veterinary Opthalmologists (2021): \"congenital anomaly characterized by the persistence of a variably fenestrated sheet of uveal tissue spanning the iridocorneal angle, extending from the iris base to the peripheral cornea. Diagnosis is by gonioscopy, which is not part of a routine eye certification examination.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Polymelia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1226,"omia_phene_id":2125,"omia_record_id":"OMIA:001226-9615","publication_ids":[19940],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2125","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Haemophagocytic syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1229,"omia_phene_id":2130,"omia_record_id":"OMIA:001229-9615","publication_ids":[64391],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2130","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"}],"characterised":true,"characterised_year":2026,"clinical_features":"Fulton et al. (2026): \"A 7-month-old intact male Cavalier King Charles Spaniel was presented for persistent glucosuria despite normoglycemia, failure to thrive, chronic diarrhea, and cerebellar ataxia.\"","defect":true,"group_name":"Menkes disease","inheritance":{"code":"XLR","name":"X-linked recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010651","iri":"http://purl.obolibrary.org/obo/MONDO_0010651","label":"Menkes disease"}],"name":"","omia_group_id":640,"omia_phene_id":2147,"omia_record_id":"OMIA:000640-9615","publication_ids":[133520],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2147","source_release":"retrieved-2026-09-12","summary":"See also 'OMIA:002608-9615 Modifier of copper toxicosis, ATP7A-related' in Canis lupus familiaris' for ATP7A variants protective of copper accumulation.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":true,"characterised_year":2000,"clinical_features":"","defect":false,"group_name":"Coat colour, extension","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"As summarised by Dürig et al. (2018): \"In dogs, three variant MC1R alleles in addition to the wildtype E+ allele have been characterized on the molecular level: EM > EG > E+ > e. The most dominant allele, EM, caused by the amino acid exchange p.Val264Met, is found in dogs with a black mask such as Leonbergers or Malinois [OMIA 001590-9615] . . . . The EG allele, caused by p.Gly78Val, is found in ‘grizzle’ Salukis or ‘domino’ Afghan Hounds [OMIA 001495-9615] . . . . Finally, the recessive loss‐of‐function allele e, caused by the p.Arg306Ter variant, is found in yellow‐ or red‐coloured dogs such as yellow Labrador Retrievers, red Irish Setters, and many others.\" From the analysis of survey data, but not of inheritance, Anderson et al. (2020) concluded \"Phenotype analysis of owner-provided dog pictures reveals that the eA allele has an impact on coat color and is recessive to wild type E and dominant to the e alleles. In dominant black (KB/*) dogs it can prevent the phenotypic expression of the K locus, and the expressed coat color is solely determined by the A locus. In the absence of dominant black, eA/eA and eA/e genotypes result in the coat color patterns referred to in their respective breed communities as domino in Alaskan Malamute and other Spitz breeds, grizzle in Chihuahua, and pied in Beagle\".
Honkaned et al. (2024) identified a new MC1R variant in sable English Cocker Spaniel dogs and propse naming it \"allele eH and further show that the eA , eH and eG (previously known as EG ) alleles associate with similar phenotypes in dogs impacting genotypes regulated by beta-defensin 103 gene (CBD103; K locus) and agouti signaling protein gene (ASIP; A locus) in the absence of the EM and E alleles. This suggests that all three alleles are putative reduced-function variants of the MC1R gene. We propose the revised and updated E locus dominance hierarchy to be EM > E > eA /eH /eG > e1-3 .\"","mondo_terms":[],"name":"This is the classic E (Extension) locus described by Little (1957).","omia_group_id":1199,"omia_phene_id":2159,"omia_record_id":"OMIA:001199-9615","publication_ids":[17637,89029,92810,96951,101752,107410,108854,109583,109584,109585,110284,112361,112418,113927,114157,115195,118064,119928,120277,120501,121090,121097,122792,123315,123917,124017,127252,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2159","source_release":"retrieved-2026-09-12","summary":"For additional phenes due to MCR1 variants in dogs see:
OMIA 001495-9615 : Coat colour, grizzle in Canis lupus familiaris 
OMIA 001590-9615 : Coat colour, melanistic mask in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Urolith, urate","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1032,"omia_phene_id":2163,"omia_record_id":"OMIA:001032-9615","publication_ids":[49223,114378],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2163","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pemphigus","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1188,"omia_phene_id":2166,"omia_record_id":"OMIA:001188-9615","publication_ids":[67097,69613,71387,80427,82069,85412,89176,89183,92064,99453,121077,122304,122637,123997,124289,125477,127035,127737,128914],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2166","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Coeliac sprue","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1238,"omia_phene_id":2175,"omia_record_id":"OMIA:001238-9615","publication_ids":[9500],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2175","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Syndactyly","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":963,"omia_phene_id":2180,"omia_record_id":"OMIA:000963-9615","publication_ids":[21491,111253,115361,115362,115363],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2180","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Siberian Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201233"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hyperphosphatasaemia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1240,"omia_phene_id":2181,"omia_record_id":"OMIA:001240-9615","publication_ids":[67212],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2181","source_release":"retrieved-2026-09-12","summary":"Lawler et al. (1996) reported the familial occurrence of elevated serum alkaline phosphatase (SAP) in Siberian Huskies.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Maltese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200856"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Poodle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201048"},{"name":"West Highland White Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201415"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":true,"characterised_year":2011,"clinical_features":"","defect":true,"group_name":"Polycythemia","inheritance":{"code":"SMu","name":"Somatic 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+{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Lipomatosis, multiple","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":606,"omia_phene_id":2201,"omia_record_id":"OMIA:000606-9615","publication_ids":[111946,111947,111948],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2201","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Atopy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":82,"omia_phene_id":2203,"omia_record_id":"OMIA:000082-9615","publication_ids":[8302,69991,71259,72875,73196,74069,74316,75033,75035,79051,79570,82833,84077,84681,88387,89399,89529,89567,90603,91236,91254,93749,93762,97262,100625,101129,102680,103293,103306,103649,103808,105672,110522,114091,114245,116324,130890],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2203","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Chronic valvular 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(Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Pomeranian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201043"},{"name":"Samoyed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201174"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Syringomyelia","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":965,"omia_phene_id":2243,"omia_record_id":"OMIA:000965-9615","publication_ids":[6503,69375,90174,92663,93468,108518,108519,108520,108523,108524,108525,108526,108527,108528,108530,108531,108532,108533,108788,108950,108951,108952,108953,108954,108955,111571,111572,114362,114405,115582,115796,116330,116753,117485,117850,118899,118935,120798,121353,123167,123869,125580,126378,126593,126901,126924,127023,127186,127528,127892,129104,129229,129867,130394,130701,131061,132635,132969],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2243","source_release":"retrieved-2026-09-12","summary":"See also OMIA:001861-9615 : Chiari malformation Type I with syringomyelia in Canis lupus familiaris.
 ","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Renal hypoplasia, bilateral","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":858,"omia_phene_id":2273,"omia_record_id":"OMIA:000858-9615","publication_ids":[9067,129529],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2273","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Spina bifida occulta","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":934,"omia_phene_id":2296,"omia_record_id":"OMIA:000934-9615","publication_ids":[121225],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2296","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Gluten-sensitive enteropathy","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1261,"omia_phene_id":2318,"omia_record_id":"OMIA:001261-9615","publication_ids":[71512,73321,75689,84039,84088,84707,91426,117249,120410],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2318","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200375"}],"characterised":true,"characterised_year":2009,"clinical_features":"","defect":true,"group_name":"Retinal atrophy - Rod-cone dysplasia 2, RD3-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1260,"omia_phene_id":2331,"omia_record_id":"OMIA:001260-9615","publication_ids":[1476,72523,76180,76477,79868,86968,87652,100760,108761,108762,110564,112004,112006,125219,125251,126404,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2331","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hydromelia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1264,"omia_phene_id":2334,"omia_record_id":"OMIA:001264-9615","publication_ids":[72590],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2334","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201185"},{"name":"Xoloitzcuintli (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201436"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Comedo syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Schnauzer comedo syndrome","omia_group_id":1272,"omia_phene_id":2352,"omia_record_id":"OMIA:001272-9615","publication_ids":[64609,70221,73632],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2352","source_release":"retrieved-2026-09-12","summary":"Numerous comedones form in the dorsal skin. Schnauzers are particularly predisposed to this disorder.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Intussusception, predisposition to","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1227,"omia_phene_id":2367,"omia_record_id":"OMIA:001227-9615","publication_ids":[73853,77111,83147,84107,84146,92335,95694,99888,107552,107554,110955,110959,110960,110965,110970,110971,110972,110974,112096,113531,114392],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2367","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hydrocephalus, 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+{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Xanthinuria, generic","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1283,"omia_phene_id":2411,"omia_record_id":"OMIA:001283-9615","publication_ids":[75793,77270,78803,83995,114682,120988,122518,122519],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2411","source_release":"retrieved-2026-09-12","summary":"See also Xanthinuria type I and type II specific entries.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Mitochondrial myopathy (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1285,"omia_phene_id":2417,"omia_record_id":"OMIA:001285-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2417","source_release":"retrieved-2026-09-12","summary":"Information previously listed here has been moved to 'OMIA 000695-9615 : Myopathy, mitochondrial in Canis lupus familiaris' [14/10/2022]","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Motor neuron disease","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1165,"omia_phene_id":2418,"omia_record_id":"OMIA:001165-9615","publication_ids":[74839,87376,103316,103378],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2418","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200638"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Keratitis","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"Cheng et al. (2016): \"evidence strongly suggests that CSK [in Greyhounds] is inherited as a simple Mendelian trait with dominant inheritance and should be amenable to gene mapping\".","mondo_terms":[],"name":"Chronic superficial keratitis","omia_group_id":1287,"omia_phene_id":2426,"omia_record_id":"OMIA:001287-9615","publication_ids":[68217,115025,116693,116694,116969,121239,121240,121241,121242,121243,123613,125219,126600,126602,128088],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2426","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Scoliosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":891,"omia_phene_id":2436,"omia_record_id":"OMIA:000891-9615","publication_ids":[76858],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2436","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Tail abnormalities","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":970,"omia_phene_id":2437,"omia_record_id":"OMIA:000970-9615","publication_ids":[76978],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2437","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Exophthalmos with strabismus","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":353,"omia_phene_id":2438,"omia_record_id":"OMIA:000353-9615","publication_ids":[77303],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2438","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Arthritis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":64,"omia_phene_id":2439,"omia_record_id":"OMIA:000064-9615","publication_ids":[77235,77266,77326,77333],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2439","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypoparathyroidism","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":528,"omia_phene_id":2441,"omia_record_id":"OMIA:000528-9615","publication_ids":[77318,103213,106977,117084],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2441","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Alaskan Malamute (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200017"},{"name":"American Staffordshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200055"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200638"},{"name":"Leonberger (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200819"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Pyrenean Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201113"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Polyneuropathy, generic","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1292,"omia_phene_id":2451,"omia_record_id":"OMIA:001292-9615","publication_ids":[9116,16126,46741,66426,76466,83255,104113,109105,109110,109480,112172,118916,127049],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2451","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Renal disease","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":856,"omia_phene_id":2461,"omia_record_id":"OMIA:000856-9615","publication_ids":[16354,64223,70783],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2461","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypercholesterolaemia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":499,"omia_phene_id":2473,"omia_record_id":"OMIA:000499-9615","publication_ids":[69770,74435,78699,94931,107415,115852],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2473","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Belgian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200144"},{"name":"Bichon Frise (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200163"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Miniature Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200893"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Pekingese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200994"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Whippet (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201421"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":true,"characterised_year":2005,"clinical_features":"Affected animals are born with symmetrical hairlessness on the forehead and over the dorsal pelvic area. There is often a history of ophthalmia neonatorum (infection behind closed eye lids in neonates). Affected animals have absent or abnormal secondary hairs (Casal et al., 2005, Mauldin et al., 2009). A large number of teeth are missing. Premolars are rarely present and canines, when present, are thinner than normal and pointed outward. Teeth that are present are conically shaped. Most notably molars and incisors, when present, are misshapen and small (Lewis et al., 2010). Signs also include absent sweat glands, decreased tear production, decreased mucociliary clearance in the respiratory tract and symmetrical hypotrichosis. Affected dogs are more susceptible to pulmonary infectious disease than normal dogs. Chronic nasal and ocular discharge are common, as are corneal ulcerations (Casal et al., 2005, Casal et al., 2007, Mauldin et al., 2009).","defect":true,"group_name":"Hypohidrotic ectodermal dysplasia, X-linked, EDA-related","inheritance":{"code":"XLR","name":"X-linked recessive"},"inheritance_text":"Casal et al. (1997) showed that this disorder is X-linked recessive. Mosaic expression in females heterozygous for the causative mutation is possible (Casal et al., 2005). Moura et al. (2020) reported an interesting case of an affected male and its mother, both of whom were dead by the time the researchers gained access to the data, which precluded any DNA testing. From pedigree information alone, Moura et al. (2020) reported that \"Through Bayesian inference, it was possible to establish that this case originated from a new mutation, with a 99.99% probability of the mother of the proband not being a carrier.\"","mondo_terms":[{"id":"MONDO:0010585","iri":"http://purl.obolibrary.org/obo/MONDO_0010585","label":"X-linked hypohidrotic ectodermal dysplasia"}],"name":"Ectodermal dysplasia, X-linked; X-linked hypohidrotic ectodermal dysplasia (XLHED); congenital hypotrichosis; anhidrotic ectodermal dysplasia","omia_group_id":543,"omia_phene_id":2477,"omia_record_id":"OMIA:000543-9615","publication_ids":[78938,80023,80024,80025,80026,80027,107246,107438,107685,108298,110004,110473,110474,115024,116790,118189,118191,119280,120766,121738,123125,124961],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2477","source_release":"retrieved-2026-09-12","summary":"X-linked ectodermal dysplasia is an inherited skin condition characterized by absent or abnormal teeth, hypotrichosis, and absent sweat glands. Other signs include decreased tear production, decreased mucociliary clearance, and symmetrical hairlessness. Affected animals are more susceptible to pulmonary infectious disease than normal dogs. Chronic nasal and ocular discharges are common, as are corneal ulceration and chronic demodecosis. The causative mutation is a point mutation in the ectodysplasin (EDA, also called ED1) gene. The mode of inheritance is X-linked recessive. Breeding of affected animals or known carriers is not recommended. Edited by Dr. Margret Casal","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200255"},{"name":"Cairn Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200267"},{"name":"Lagotto Romagnolo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200804"},{"name":"West Highland White Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201415"}],"characterised":true,"characterised_year":2011,"clinical_features":"Bull terriers with polycystic kidney disease (PKD) have bilateral renal cysts (Gharahkhani et al., 20211). Clinical features include proteinuria, haematuria and pyuria leading to terminal uraemia, poor body condition and signs of renal failure with middle to old age (O'Leary and Turner, 2004). PKD is usually diagnosed by the ultrasonographic detection of at least 3 cysts across the two kidneys and family history of the disease (O'Leary et al., 1999). Bull terriers with PKD have also shown signs of concurrent heart murmurs, increased prevalence of myxomatous mitral valve disease and more severe left ventricular outflow obstruction (O'Leary and Turner, 2004; O'Leary et al. 2005). \r\nIT thanks DVM student Gabrielle Park-McCabe, who provided the basis of this contribution in May 2023.\r\n\r\nThe Lagotto Romagnolo dogs with polycystic kidney disease investigated by Drögemüller et al. (2023) \"appeared clinically inconspicuous, while sonography revealed the presence of renal cysts.\"","defect":true,"group_name":"Polycystic kidney disease","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0008263","iri":"http://purl.obolibrary.org/obo/MONDO_0008263","label":"polycystic kidney disease 1"}],"name":"Autosomal dominant polycystic kidney disease (ADPKD); Bull terrier polycystic kidney disease (BTPKD); renal cystic disease","omia_group_id":807,"omia_phene_id":2481,"omia_record_id":"OMIA:000807-9615","publication_ids":[4649,79374,82804,87324,101395,101412,107053,107339,109412,110411,110412,110413,110414,110415,110416,110419,120832,125338,127735],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2481","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Dwarfism, hypochondroplastic","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"In the results from test matings, Hanssen et al. (1998) provided convincing evidence of autosomal recessive inheritance.","mondo_terms":[],"name":"Irish Setter dwarfism","omia_group_id":1296,"omia_phene_id":2486,"omia_record_id":"OMIA:001296-9615","publication_ids":[111979],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2486","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Norwegian Elkhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200955"}],"characterised":true,"characterised_year":2010,"clinical_features":"As photoreceptor differentiation occurs postnatally in dogs (Goldstein et al., 2010), clinical signs will present from around 3-10 weeks of age. Given the affected type of photoreceptors, reduced night vision and night blindness are a common initial clinical presentation (Acland et al., 1987). Affected animals can present with poor generalised vision. Retinal degeneration will occur rapidly in the first 6 months, and then more gradually thereafter (Berta et al., 2011). Complete loss of vision will be reached at around 12-18 months of age (Acland et al., 1987). IT thanks DVM student Martina Bai, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Early retinal degeneration","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Progressive retinal atrophy; retinal atrophy -2","omia_group_id":1297,"omia_phene_id":2488,"omia_record_id":"OMIA:001297-9615","publication_ids":[63140,66288,79867,79868,87051,106459,109349,111401,112004,115338,115539,120485,124796,125219,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2488","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200038"},{"name":"American Eskimo Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200046"},{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"},{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Australian Stumpy Tail Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200097"},{"name":"Barbet (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200119"},{"name":"Chesapeake Bay Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200326"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Chinese Crested (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200345"},{"name":"Cockapoo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200370"},{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"Entlebucher Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200503"},{"name":"Finnish Lapphund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200523"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Goldendoodle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200611"},{"name":"Karelian Bear Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200754"},{"name":"Kuvasz (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200793"},{"name":"Labradoodle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200798"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Lapponian Herder (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200814"},{"name":"Norwegian Elkhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200955"},{"name":"Nova Scotia Duck Tolling Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200964"},{"name":"Poodle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201048"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Poodle, Toy (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201061"},{"name":"Portuguese Podengo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201067"},{"name":"Portuguese Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201077"},{"name":"Schipperke (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201184"},{"name":"Silky Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201237"},{"name":"Spanish Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201280"},{"name":"Swedish Lapphund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201315"},{"name":"Swedish White Elkhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201317"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":true,"characterised_year":2006,"clinical_features":"Clinical features of the disease are a result of degeneration of the rods and cones in the eye (Spencer et al., 2016). Dogs are born with normal vision but in adolescence or early adulthood begin to show clinical signs (Miyadera, 2014). The disease typically manifests initially as a lack of coordination in dim light and night blindness (Miyadera, 2014). Affected dogs may also show an aversion to bright lights, difficulty navigating familiar areas and failure to focus on small objects such as balls or toys (Miyadera, 2014). As the cones of the eye degenerate, the night blindness will progress to day blindness (Miyadera, 2012). Ultimately, the disease results in total blindness (Miaydera, 2012). Currently, there is no known cure or treatment for slowing down progression of PRCD. Progression varies between individuals but most dogs become completely blind in 1 – 2 years (Zangerl et al., 2006). [IT thanks DVM student Lauren Alam, who provided the basis of this contribution in April 2022]","defect":true,"group_name":"Progressive rod-cone degeneration, PRCD-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1298,"omia_phene_id":2489,"omia_record_id":"OMIA:001298-9615","publication_ids":[16257,66288,79869,80419,80921,81313,82992,84340,88408,107926,109006,111396,112004,112017,112018,115539,116245,116944,120017,120441,123184,123185,123186,123187,123188,123189,123310,123857,123917,124287,125219,125394,125653,126404,126405,129719,132518,132837],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2489","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Aplasia segmentalis ductus wolffii","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":56,"omia_phene_id":2499,"omia_record_id":"OMIA:000056-9615","publication_ids":[80376],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2499","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Neuronal vacuolar disorder","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1303,"omia_phene_id":2503,"omia_record_id":"OMIA:001303-9615","publication_ids":[80360,82657],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2503","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Atherosclerosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":80,"omia_phene_id":2517,"omia_record_id":"OMIA:000080-9615","publication_ids":[80945,106137,122706],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2517","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dachshund, Wire-Haired (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200423"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"}],"characterised":true,"characterised_year":2000,"clinical_features":"","defect":true,"group_name":"Mucopolysaccharidosis IIIA","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009655","iri":"http://purl.obolibrary.org/obo/MONDO_0009655","label":"mucopolysaccharidosis type 3A"}],"name":"","omia_group_id":1309,"omia_phene_id":2529,"omia_record_id":"OMIA:001309-9615","publication_ids":[82173,93329,93746,96653,99645,101505,109094,109098,110327,110330,116399,116400,117015,117016,117350,120540,120654,122329,125653,128324,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2529","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"}],"characterised":true,"characterised_year":2009,"clinical_features":"","defect":true,"group_name":"Ichthyosis, TGM1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009441","iri":"http://purl.obolibrary.org/obo/MONDO_0009441","label":"autosomal recessive congenital ichthyosis 1"}],"name":"Epidermolytic ichthyosis; TGase 1 deficient lamellar ichthyosis","omia_group_id":546,"omia_phene_id":2530,"omia_record_id":"OMIA:000546-9615","publication_ids":[82165,92414,109411,114161,122810,127986],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2530","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"}],"characterised":true,"characterised_year":2019,"clinical_features":"Murgiano et al. (2019) reported \"Based on the limited number of cases examined by one of the authors (GDA), PRA-affected dogs were clinically indistinguishable from the earlier described photoreceptor dysplasia cases (Parshall et al. 1991). Clinical examinations using biomicroscopy and indirect ophthalmoscopy showed that affected dogs were normal when examined at 10 months of age or earlier. Subsequently, fundus changes indicative of PRA developed. By 3 years of age, affected dogs showed advanced retinal disease. They had slow and incomplete pupillary light reflexes, and showed poor vision in familiar surroundings or preferred to be in a crate and not moving around. ... Fundus abnormalities at ∼3 years of age were characteristic of mid-stage disease (Parshall et al. 1991), consisted of marked attenuation or loss of retinal vessels, diffuse hyperreflectivity and ridging of the tapetal region (an indication of retinal thinning) and RPE loss and pigment migration in the non-tapetal regions of the eye. Cataracts were not present at this time. Progression to end-stage retinal atrophy and blindness occurred with age, although we could not specify the age when these changes occurred as most of the samples and clinical records were submitted from dogs prior to this advanced disease stage.\" Kaukonen et al. (2020) reported that the clinical signs and age of onset \"closely resemble\" those reported in the same breed by Jeong et al. (2013). All 12 cases examined in Kaukonen et al. (2020) were totally blind before the age of five.","defect":true,"group_name":"Photoreceptor dysplasia, PPT1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Parshall et al. (1991): \"Pedigree analysis and test-mating studies conclusively establish that inheritance is autosomal recessive.\" Murgiano et al. (2019): \"Pedigree analysis suggested monogenic autosomal recessive inheritance\".","mondo_terms":[],"name":"Progressive retinal atrophy, type 1","omia_group_id":1311,"omia_phene_id":2534,"omia_record_id":"OMIA:001311-9615","publication_ids":[82942,85191,119006,119007,120494,120495,123136,125219,126404,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2534","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Cardigan Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200290"},{"name":"Chinese Crested (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200345"},{"name":"Pomeranian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201043"}],"characterised":true,"characterised_year":1999,"clinical_features":"","defect":true,"group_name":"Retinal atrophy - Rod-cone dysplasia 3, PDE6A-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013437","iri":"http://purl.obolibrary.org/obo/MONDO_0013437","label":"retinitis pigmentosa 43"}],"name":"","omia_group_id":1314,"omia_phene_id":2544,"omia_record_id":"OMIA:001314-9615","publication_ids":[4408,85924,90663,108443,112004,116893,117646,117978,121193,124416,125219,125653,126404,129719,130017,130075],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2544","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Acromegaly","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":8,"omia_phene_id":2550,"omia_record_id":"OMIA:000008-9615","publication_ids":[84440,86739,121297],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2550","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Motor neuron disease, lower","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":662,"omia_phene_id":2566,"omia_record_id":"OMIA:000662-9615","publication_ids":[85541],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2566","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Mucopolysaccharidosis II","inheritance":{"code":"X","name":"X-linked"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1317,"omia_phene_id":2568,"omia_record_id":"OMIA:001317-9615","publication_ids":[85538,120540],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2568","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Epidermolysis bullosa","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":340,"omia_phene_id":2572,"omia_record_id":"OMIA:000340-9615","publication_ids":[83926,91008,117395],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2572","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2009,"clinical_features":"","defect":true,"group_name":"Elliptocytosis, SPTB-related","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0054780","iri":"http://purl.obolibrary.org/obo/MONDO_0054780","label":"elliptocytosis 3"}],"name":"","omia_group_id":1318,"omia_phene_id":2579,"omia_record_id":"OMIA:001318-9615","publication_ids":[88159,108581],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2579","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Atresia intestinal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":87,"omia_phene_id":2597,"omia_record_id":"OMIA:000087-9615","publication_ids":[88888,117764],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2597","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Alaskan Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200015"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":true,"characterised_year":2013,"clinical_features":"As summarised by Vernau et al. (2013), \"Dogs with AHE may have acute onset of clinical signs, or chronic progressive waxing and waning clinical history. Typically, they have multifocal central nervous system deficits including seizures, altered mentation, dysphagia, absent menace response, central blindness, hypermetria, proprioceptive positioning deficits, facial hypoalgesia, ataxia and tetraparesis.\"","defect":true,"group_name":"Necrotising encephalopathy, subacute, of Leigh","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Alaskan Husky Encephalopathy (AHE)","omia_group_id":1097,"omia_phene_id":2606,"omia_record_id":"OMIA:001097-9615","publication_ids":[68955,88982,89771,109408,114071,116356,120947,122523,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2606","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200038"},{"name":"Berger Picard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200158"},{"name":"Black and Tan Coonhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200168"},{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"Clumber Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200366"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200375"},{"name":"Czechoslovakian Wolfdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200402"},{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"},{"name":"Field Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200519"},{"name":"German Spitz (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200585"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200867"},{"name":"Sussex Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201309"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Retinal dysplasia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":868,"omia_phene_id":2610,"omia_record_id":"OMIA:000868-9615","publication_ids":[3952,7335,7458,8511,90209,109279,118028,122218,125219,129669,132673],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2610","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Soft Coated Wheaten Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201260"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Protein-losing enteropathy","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"A GWAS conducted by Donnini et al. (2020) on \"106 related Gordon setters was used, including 6 affected dogs from an affected litter, 6 case controls from the same litter, 10 related/affected dogs, and 84 related/unaffected dogs\" revealed regions on six chromosomes contributing to variation in liability, consistent with multifactorial inheritance.","mondo_terms":[],"name":"","omia_group_id":1325,"omia_phene_id":2612,"omia_record_id":"OMIA:001325-9615","publication_ids":[90336,90430,92274,114036,117007,117362,117365,120466,121133,124297,129298,129374,129467,129935,130208,130328,132299,132461,132566],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2612","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Soft Coated Wheaten Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201260"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Protein-losing nephropathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1326,"omia_phene_id":2613,"omia_record_id":"OMIA:001326-9615","publication_ids":[90336,90430,113542,114036,115333],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2613","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Bedlington Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200137"},{"name":"Irish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200704"},{"name":"Kromfohrlander (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200786"}],"characterised":true,"characterised_year":2014,"clinical_features":"As summarised by Drögemüller et al. (2014): \"Hyperkeratosis of the foot pads is noticed by the owners of both breeds at 4–5 months of age and involves all footpads. With time horny protrusions appear on the rims of the footpads and the pad surface becomes hard and develops cracks . . . . Affected animals avoid walking on irregular surfaces and may go lame. The nails of affected dogs are very hard and seem to grow faster. We noticed a duller, less wiry, softer coat on an affected Kromfohrländer . . . . Similar clinical symptoms were noted on 5 HFH affected Irish Terriers.\"","defect":true,"group_name":"Hyperkeratosis, palmoplantar, FAM83G-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Hereditary Footpad Hyperkeratosis","omia_group_id":1327,"omia_phene_id":2618,"omia_record_id":"OMIA:001327-9615","publication_ids":[90911,105951,115641,116235,120266,122810,123125,125653,127722],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2618","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Linear IgA disease","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1330,"omia_phene_id":2622,"omia_record_id":"OMIA:001330-9615","publication_ids":[90639,124289],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2622","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Eclampsia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1331,"omia_phene_id":2624,"omia_record_id":"OMIA:001331-9615","publication_ids":[91220,121083],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2624","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Bichon Frise (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200163"},{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2003,"clinical_features":"As summarised by Lingaas et al. (2003), \"The disease is characterized by bilateral, multifocal tumors in the kidneys, uterine leiomyomas and nodules in the skin consisting of dense collagen fibers\". Ciccarelli et al. (2019) reported a case of \"Unilateral renal cystadenocarcinoma and nodular dermatofibrosis in a mixed-breed dog carrying . . . [the p.His255Arg] FLCN gene mutation\", concluding that \"This case supports the hypothesis that nodular dermatofibrosis is not a paraneoplastic syndrome associated with cystadenocarcinoma. It may be instead an independent dermatological feature of the same genetic disease, linked to the mutation of FLCN given that the cutaneous nodules in this dog increased in size and number after removal of the adenocarcinoma.\"","defect":true,"group_name":"Renal cystadenocarcinoma and nodular dermatofibrosis","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"A pedigree analysis by Lium and Moe (1985) implicated autosomal dominant inheritance, which was confirmed by Moe et al. (1998).","mondo_terms":[],"name":"Renal cancer syndrome, nodular dermatofibrosis and kidney disease","omia_group_id":1335,"omia_phene_id":2635,"omia_record_id":"OMIA:001335-9615","publication_ids":[61796,77830,78798,91262,91867,93001,93002,107048,109309,110072,114996,115167,115168,115169,115170,115171,115172,115173,118913,123125,127088,130409],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2635","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Epistaxis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":346,"omia_phene_id":2644,"omia_record_id":"OMIA:000346-9615","publication_ids":[93778,106949],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2644","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Foxhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200047"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"English Foxhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200490"},{"name":"Harrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200660"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Treeing Walker Coonhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201374"}],"characterised":true,"characterised_year":2000,"clinical_features":"Catalase is an enzyme responsible for breaking down reactive oxygen species. As there are other enzymes able to fulfil this role, hypocatalasia often has no clinical signs. Hypocatalasia has been associated with ulcers of the oral cavity leading to gangrene, a condition known as “Takahara disease” in humans (Fukuda et al., 1982). The pathogenesis of this disease is explained by some oral bacteria producing hydrogen peroxide, which is unable to be decomposed due to catalase deficiency (Ogata et al. 2008).\r\n\r\nIT thanks DVM student Joumana Quinn, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Hypocatalasia","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1138,"omia_phene_id":2648,"omia_record_id":"OMIA:001138-9615","publication_ids":[94800,111851,111852,111853,111854,116893,116897,118018,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2648","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Boykin Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200214"},{"name":"Chinese Crested (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200345"},{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"},{"name":"German Spitz (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200585"},{"name":"German Wirehaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200602"}],"characterised":true,"characterised_year":2004,"clinical_features":"","defect":true,"group_name":"Von Willebrand disease II","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1339,"omia_phene_id":2650,"omia_record_id":"OMIA:001339-9615","publication_ids":[43824,85251,95377,107063,112767,113689,113690,116385,117714,117715,117716,117717,123197,123201,123202,125653,125867],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2650","source_release":"retrieved-2026-09-12","summary":"see also OMIA:001057-9615 : Von Willebrand disease I in Canis lupus familiaris, OMIA:001058-9615 : Von Willebrand disease III in Canis lupus familiaris and OMIA:001056-9615 : Von Willebrand disease, generic in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Scottish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201198"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Leukodystrophy, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Dalmatian leukodystrophy; miniature poodle demyelination","omia_group_id":1130,"omia_phene_id":2661,"omia_record_id":"OMIA:001130-9615","publication_ids":[5839,6679,8501,124810],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2661","source_release":"retrieved-2026-09-12","summary":"Information about canine spongiform leukoencephalomyelopathy or Shetland Sheepdog leukodystrophy in Shetland Sheepdogs and Australian cattle dogs due to mutations in the mitochondrial CYTB gene have been moved to 'OMIA:002684-9615 : Leukodystrophy, CYTB-related in Canis lupus familiaris'. Other forms of leukodystrophy exist and have separate entries. [3/5/2023]","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Borzoi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200197"},{"name":"Dogue de Bordeaux (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200450"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Tricuspid valve dysplasia","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Ohad et al. (2013) provided evidence for autosomal recessive inheritance in Dogue de Bordeaux dogs in Israel.","mondo_terms":[],"name":"Canine tricuspid valve malformation (CTVM)","omia_group_id":1345,"omia_phene_id":2672,"omia_record_id":"OMIA:001345-9615","publication_ids":[73537,101133,107078,107622,110025,110242,110243,110244,113593,114156,120859,124168,125307,127738],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2672","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Bull Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200253"},{"name":"English Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200492"}],"characterised":true,"characterised_year":2002,"clinical_features":"As detailed by Kijas et al. (2002), rod vision is normal for at least the first few months. But by 12-18 months, degeneration is evident, spreading slowly from a disease focus in one retinal region. In addition, there is an abnormally slow recovery of rod photoreceptor function after exposure to light.Homozygotes have more severe clinical signs than heterozygotes [Frank Nicholas, 26 June 2002] Iwabe et al. (2016) reported that \"a short single exposure to a dose of white light that is not retinotoxic in [wild-type] WT dogs causes in the T4R RHO retina an acute loss of ONL in the central to mid peripheral region that keeps progressing over the course of several weeks. However, this severe retinal damage does not affect visual behavior presumably because of islands of surviving photoreceptors found in the area centralis including the newly discovered canine fovea-like area, and the lack of damage to peripheral photoreceptors.\"","defect":true,"group_name":"Retinal atrophy, progressive, autosomal dominant, RHO-related","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"retinitis pigmentosa","omia_group_id":1346,"omia_phene_id":2673,"omia_record_id":"OMIA:001346-9615","publication_ids":[100762,107018,108757,109492,109493,112004,116437,116438,116439,117479,118129,123316,124796,125219,126404,129012,129719,129760,130075],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2673","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"}],"characterised":true,"characterised_year":2002,"clinical_features":"","defect":true,"group_name":"Severe combined immunodeficiency disease, autosomal, PRKDC-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Combined immunodeficiency disease","omia_group_id":220,"omia_phene_id":2674,"omia_record_id":"OMIA:000220-9615","publication_ids":[100126,101000,109405,109406,113418],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2674","source_release":"retrieved-2026-09-12","summary":"See: 'OMIA:001574-9615 : Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive in Canis lupus familiaris' for a autosomal severe combined immunodeficiency due genetic variants in the RAG1 gene.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Fibrodysplasia ossificans","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":388,"omia_phene_id":2679,"omia_record_id":"OMIA:000388-9615","publication_ids":[98817],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2679","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Urolith, KMgP","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1349,"omia_phene_id":2685,"omia_record_id":"OMIA:001349-9615","publication_ids":[100493],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2685","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Staffordshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200055"},{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Belgian Shepherd Dog, Malinois (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200147"},{"name":"Chinese Crested (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200345"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Great Pyrenees (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200629"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Perro de Presa Canario (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201000"},{"name":"Siberian Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201233"}],"characterised":true,"characterised_year":2015,"clinical_features":"In a clinical setting CSS typically manifests as post-operative bruising and haematoma formation with a few reports of nontraumatic haemorrhage into joints and soft tissue and epistaxis. These clinical signs differ from classic platelet defects; and as platelet count, coagulation & VWF screening tests are all normal, this makes diagnosis of a platelet procoagulant deficiency complicated (Jandrey et al., 2012). [IT thanks DVM student Alexandra Norris, who provided the basis of this contribution in April 2022]","defect":true,"group_name":"Scott syndrome","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Autosomal recessive inheritance was indicated by the segregation analysis of Brooks et al. (2010).","mondo_terms":[{"id":"MONDO:0009885","iri":"http://purl.obolibrary.org/obo/MONDO_0009885","label":"Scott syndrome"}],"name":"Procoagulant expression; Canine Platelet Procoagulant Deficiency; Deficiency of Platelet Receptor for Factor X","omia_group_id":1353,"omia_phene_id":2693,"omia_record_id":"OMIA:001353-9615","publication_ids":[100172,109235,109574,109575,109576,112965,117298,123324,124288,125653,125867],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2693","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"Lancashire Heeler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200808"},{"name":"Leonberger (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200819"},{"name":"Miniature American Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200880"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"},{"name":"Siberian Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201233"}],"characterised":true,"characterised_year":2002,"clinical_features":"","defect":false,"group_name":"Coat colour, brown, TYRP1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"This is the classic B (Brown) locus described by Little (1957)","omia_group_id":1249,"omia_phene_id":2695,"omia_record_id":"OMIA:001249-9615","publication_ids":[101752,109460,110218,112361,117707,117813,117814,118085,118575,119928,119945,120277,120501,121145,122792,123917,124017,124803,125653,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2695","source_release":"retrieved-2026-09-12","summary":"Brancalion et al. (2021): \"The Brown (B) locus is controlled by Tyrosinase-related protein 1 (TYRP1. I), located on CFA11 (Schmutz et al. 2002). TYRP1. I encodes an intramelasomal peptide with a key role in the pathway of eumelanin biosynthesis (Kaelin et al. 2012). Consequently, variants in TYRP1 disrupt the production of eumelanin but have no effect on pheomelanin synthesis. Three recessive TYRP1 alleles, termed ‘bs’, ‘bd’ and ‘bc’, are commonly responsible for the dilution of black pigment to brown (Schmutz et al. 2002; ...). The dominant wt allele, ‘B’, favours the production of normal black eumelanin. ... As TYRP1 variants affect the synthesis of eumelanin and not pheomelanin, they have no effect on coat colour in dogs that are homozygous recessive at MC1R (e/e). Further, the variation in coat colour from yellow to red in e/e dogs was not found to be attributed to variants at the Brown locus (Schmutz et al. 2002). A two-gene interaction between the genotype at TYRP1 and MC1R, however, has been found to determine colouration of the nose and paw pads. Normally black, the nose and paw pads of E/e or E/E dogs with two or more recessive Brown alleles were found to be lightened to brown, whereas in e/e dogs, the normally black nose and paw pads were lightened to either brown or ‘self’ coloured. This phenomenon occurs because different genetic pathways control the migration of pigment into the hair shaft and keratinised skin (Schmutz et al. 2002; Schmutz & Berryere 2007).\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Coat colour, dominant white","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":209,"omia_phene_id":2699,"omia_record_id":"OMIA:000209-9615","publication_ids":[102074,102132],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2699","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Nephritis, autosomal recessive (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Information about this condition has been moved to OMIA000710-9615: Nephropathy in Canis lupus familiaris [23/05/2022]","omia_group_id":1359,"omia_phene_id":2705,"omia_record_id":"OMIA:001359-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2705","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Dysplasia epiphysealis hememelica","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1361,"omia_phene_id":2707,"omia_record_id":"OMIA:001361-9615","publication_ids":[103261],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2707","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Vitamin-K-dependent blood coagulation factors deficiency","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1054,"omia_phene_id":2711,"omia_record_id":"OMIA:001054-9615","publication_ids":[101596],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2711","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ataxia, progressive, with head tremor and seizures","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1363,"omia_phene_id":2715,"omia_record_id":"OMIA:001363-9615","publication_ids":[102956],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2715","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cerebellar degeneration","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1221,"omia_phene_id":2716,"omia_record_id":"OMIA:001221-9615","publication_ids":[2600,7827,51183,103289,106519,117874,117875,117876,125285,125291,127418,127419],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2716","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Alaskan Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200015"},{"name":"Alaskan Malamute (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200017"},{"name":"Miniature Australian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200881"},{"name":"Siberian Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201233"}],"characterised":true,"characterised_year":2002,"clinical_features":"","defect":true,"group_name":"Achromatopsia-3, CNGB3-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009875","iri":"http://purl.obolibrary.org/obo/MONDO_0009875","label":"achromatopsia 3"}],"name":"cone degeneration","omia_group_id":1365,"omia_phene_id":2720,"omia_record_id":"OMIA:001365-9615","publication_ids":[1377,5247,104947,109163,109380,109664,112004,113610,113696,117202,118102,120515,123310,123721,125219,129012,129719,129760,130075],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2720","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Achalasia of the oesophagus, congenital","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":3,"omia_phene_id":2725,"omia_record_id":"OMIA:000003-9615","publication_ids":[105211],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2725","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Follicular dysplasia and interface dermatitis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1369,"omia_phene_id":2726,"omia_record_id":"OMIA:001369-9615","publication_ids":[106145],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2726","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200258"},{"name":"Pug (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201089"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Acrochordonous plaque","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1370,"omia_phene_id":2727,"omia_record_id":"OMIA:001370-9615","publication_ids":[106156],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2727","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Staffordshire Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201296"},{"name":"West Highland White Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201415"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":true,"characterised_year":2007,"clinical_features":"","defect":true,"group_name":"L-2-hydroxyglutaricacidemia","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009370","iri":"http://purl.obolibrary.org/obo/MONDO_0009370","label":"L-2-hydroxyglutaric aciduria"}],"name":"L-2-hydroxyglutaric aciduria","omia_group_id":1371,"omia_phene_id":2728,"omia_record_id":"OMIA:001371-9615","publication_ids":[98804,106159,106300,107311,109504,109505,109506,113019,113020,115876,117170,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2728","source_release":"retrieved-2026-09-12","summary":"The first cases of this inborn error of metabolism in animals were reported by Abramson et al. (2001, 2003) [FN: 7 Oct 2003]","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200638"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2013,"clinical_features":"As summarised by Jagannathan et al. (2013), \"HNPK affected dogs develop crusts and fissuring of the nasal planum at a young age but are otherwise healthy. The pathognomonic histopathological changes consist of a marked diffuse parakeratotic hyperkeratosis characterized by the retention of nuclei in the stratum corneum and an accumulation of proteinaceous fluid (“serum lakes”) within the stratum corneum\".","defect":true,"group_name":"Nasal parakeratosis","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Page et al. (2003) reported evidence consistent with autosomal recessive inheritance.","mondo_terms":[],"name":"Hereditary nasal parakeratosis","omia_group_id":1373,"omia_phene_id":2730,"omia_record_id":"OMIA:001373-9615","publication_ids":[105049,106484,115005,117895,120479,123125,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2730","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Imperforate anus with rectovaginal fistula","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":559,"omia_phene_id":2735,"omia_record_id":"OMIA:000559-9615","publication_ids":[106309],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2735","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2005,"clinical_features":"Centronuclear myopathy in Labradors presents with weakness, hypotonia, paresis and progressive skeletal muscle atrophy from at about 1 month of age (Walmsley et al., 2016). In rare cases, clinical signs may not become apparent until as late as 6 months of age. Affected dogs have abnormal deep tendon reflexes. Clinical signs become initially increasingly severe but may stabilise at approximately one year of age (Blot et al., 2002). There are a range of clinical presentations, ranging from mild disease with reduced exercise tolerance and gait abnormalities to more severe presentations involving obvious skeletal muscle atrophy and collapse. Dogs can have reduced muscle tone of the oesophagus leading to difficulties swallowing and a risk of sudden death, which can be reduced by gravity-assisted feeding (McKerrel & Braund, 1987). Clinical signs may be exacerbated by exposure to cold weather (McKerrel & Braund 1987).\r\nIT thanks DVM student Leo Rubinstein, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Centronuclear myopathy, HACD1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Tiret et al. (2003) showed that this disorder is autosomal recessive.","mondo_terms":[],"name":"Type II fiber deficiency; Autosomal recessive muscular dystrophy; Hereditary myopathy of Labrador retrievers (HMLR)","omia_group_id":1374,"omia_phene_id":2737,"omia_record_id":"OMIA:001374-9615","publication_ids":[2538,103490,106358,109292,109293,109294,109295,111519,111527,112389,113900,113901,113902,113903,113904,113905,114989],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2737","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Spherocytosis","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"Hereditary spectrin deficiency","omia_group_id":1228,"omia_phene_id":2755,"omia_record_id":"OMIA:001228-9615","publication_ids":[107026,124797,125163],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2755","source_release":"retrieved-2026-09-12","summary":"Slappendel et al. (2005) were the first to describe hereditary spectrin deficiency in dogs: \"A radioimmunoassay revealed that erythrocyte spectrin concentration was 50-65% of normal in 5 adult Golden Retriever dogs, which had recovered from hemolytic anemia but whose OF [osmotic fragility] had persistently remained increased. OF also was increased and spectrin concentration was decreased (60-73%) in 10 dogs of an apparently healthy family of 19 Golden Retrievers related to a proband. Pedigree analysis revealed autosomal dominant inheritance. ... It is not clear whether spectrin deficiency in Golden Retrievers may result in hemolytic anemia, as in humans.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hemimelia, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":450,"omia_phene_id":2757,"omia_record_id":"OMIA:000450-9615","publication_ids":[107029],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2757","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200375"},{"name":"Collie Rough (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200376"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"Long-Haired Whippet (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200833"},{"name":"McNab Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200872"},{"name":"Miniature Australian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200881"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"},{"name":"Old English Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200969"},{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"},{"name":"Silken Windhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201235"},{"name":"Waller (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201394"},{"name":"White Swiss Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201423"}],"characterised":true,"characterised_year":2001,"clinical_features":"In the 1980s, dogs of predominantly herding breeds were reported with adverse effects following drug administration. When these dogs are administered xenobiotics at an appropriate dose, the drug accumulates in the brain leading to severe neurotoxicity. Affected animals may present with generalised tremor, agitation, severe panting, hypersalivation, lethargy, disorientation, depression, mydriasis, loss of menace, loss of papillary light responses, blindness, seizures, proprioceptive ataxia, weakness, bradycardia, obtundation, recumbency and coma (Mealey et al., 2001; Bissonnette et al., 2009; Gaens et al., 2019). Mydriasis is suggested to be the most sensitive sign (Bissonnette et al., 2009). [IT thanks DVM student Hannah Edgell for contributions to this entry in April 2022]","defect":true,"group_name":"Multidrug resistance 1, ABCB1-related","inheritance":{"code":"AID","name":"Autosomal incomplete dominant"},"inheritance_text":"The mode of inheritance was initially considered as autosomal recessive. However, Mealey et al. (2003) reported a single dog, who was heterozugous for the ∆MDR1 [omia.variant:469], with increased toxicity of P-glycoprotein-substrate chemotherapeutic agents, and Mealey and Meurs (2008) suggest that 'heterozygous dogs appear to have an intermediate phenotype with respect to responses to avermectins'. Thus an incomplete dominant mode of inheritance may be considered.","mondo_terms":[],"name":"Ivermectin sensitivity","omia_group_id":1402,"omia_phene_id":2759,"omia_record_id":"OMIA:001402-9615","publication_ids":[107020,107050,107068,107069,107099,107781,107782,107783,107784,107785,107786,107787,107788,107789,107790,107791,107792,107793,108426,108427,108428,108429,108430,108431,108725,109164,109167,109168,109169,109330,109394,110168,110288,110638,112554,112583,112950,113158,115293,115294,115295,115296,115297,115298,115299,115300,115301,115302,115356,116708,116840,116893,118056,119241,120106,120433,121760,122750,123000,123304,123305,123306,123588,123589,123856,124147,124388,125478,125653,126695,126696,127696,128300,129856,130048,130136,130739,132128,132279,132713,133212],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2759","source_release":"retrieved-2026-09-12","summary":"Multidrug resistance 1 is caused by a lack of P-glycoprotein drug transporter in the blood-brain barrier, which is characterized by neurotoxicity after administration of certain drugs.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pancreatitis, hereditary","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1403,"omia_phene_id":2760,"omia_record_id":"OMIA:001403-9615","publication_ids":[107059,108601,109379,127495,133171,133535],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2760","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"}],"characterised":true,"characterised_year":2004,"clinical_features":"","defect":false,"group_name":"Metabolizer of a cognitive enhancer","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Protein deletion","omia_group_id":1405,"omia_phene_id":2762,"omia_record_id":"OMIA:001405-9615","publication_ids":[107066,107067,112890,112891,112892,124860,125252,125653,130484,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2762","source_release":"retrieved-2026-09-12","summary":"In the first of two papers, Mise et al. (2004; Drug Metab Dispos 32:240-5) reported a polymorphism in ability to metabolize a novel cognitive enhancer AC-3933. Tenmizu et al. (2004) reported a similar polymorphism for a novel and selective phosphodiesterase type 4 inhibitor, YM-64227. In both cases, dogs were classified as poor metabolizers (PM) or extensive metabolizers (EM).","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":true,"characterised_year":2007,"clinical_features":"","defect":false,"group_name":"Coat colour, white spotting","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"This locus was described by Little (1957). As summarised by Körberg et al. (2014), Little \"described four different alleles at this locus with phenotypic effects ranging from solid (S, . . .), to a completely white coat, caused by homozygosity for the Extreme white allele (sw, . . .). The two intermediate phenotypes were named Irish spotting (si, . . .) and piebald (sp, . . .). Irish spotting is characterized by modest white spotting, often present as a white collar and a white belly, as demonstrated by breeds such as the Bernese Mountain dog and Basenji. Piebald-coloured dogs display limited to extensive white spotting and the phenotype is observed in several breeds, including the Beagle and Fox Terrier.\"","mondo_terms":[],"name":"","omia_group_id":214,"omia_phene_id":2763,"omia_record_id":"OMIA:000214-9615","publication_ids":[13593,107455,108246,109588,109590,109600,109601,109833,115759,119928,120501,121048,121377,121827,122792,124015,124016,124017,124932],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2763","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Clumber Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200366"},{"name":"Sussex Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201309"}],"characterised":true,"characterised_year":2007,"clinical_features":"Affected dogs show exercise intolerance, lactic acidosis, and post-exercise collapse.\r\nManagement includes exercise restriction and a high-fat diet with thiamine and carnitine supplementation (Cameron et al., 2007).\r\n","defect":true,"group_name":"Pyruvate dehydrogenase deficiency","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0012120","iri":"http://purl.obolibrary.org/obo/MONDO_0012120","label":"pyruvate dehydrogenase phosphatase deficiency"}],"name":"","omia_group_id":1406,"omia_phene_id":2765,"omia_record_id":"OMIA:001406-9615","publication_ids":[4826,107071,107073,110406,110407,110408],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2765","source_release":"retrieved-2026-09-12","summary":"Deficiency in pyruvate dehydrogenase phosphatase 1 in Clumber and Sussex Spaniels is characterized by exercise intolerance, lactic acidosis, and collapse after exercise. The causative mutation is the same in these breeds. \r\n\r\nEdited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Lymphoproliferative disease","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Modiano et al. (2005) presented evidence of between-breed variation.","mondo_terms":[],"name":"LPD","omia_group_id":1409,"omia_phene_id":2770,"omia_record_id":"OMIA:001409-9615","publication_ids":[107100],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2770","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Anodontia","inheritance":null,"inheritance_text":"\"The results of integrated segregation analysis indicated heterogeneous genetic control of different forms of hypodontia. The geneses of different premolars in dogs have been demonstrated to be described by different models of inheritance: the absence of the second premolars can be described by the recessive major-gene model, whereas the agenesis of the fourth premolars have a more complex genetic mechanism and cannot be described by the model of a simple major-gene control.\" (Aksenovich et al., 2004)","mondo_terms":[],"name":"","omia_group_id":48,"omia_phene_id":2774,"omia_record_id":"OMIA:000048-9615","publication_ids":[107286,110745,129266],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2774","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Patent urachus","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":781,"omia_phene_id":2782,"omia_record_id":"OMIA:000781-9615","publication_ids":[107348],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2782","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Schipperke (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201184"}],"characterised":true,"characterised_year":2020,"clinical_features":"Affected dogs show clinical signs of cerebellar disease including ataxia and tremor with adult onset at approximately three years of age (Ellinwood et al., 2003).","defect":true,"group_name":"Mucopolysaccharidosis IIIB","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1342,"omia_phene_id":2785,"omia_record_id":"OMIA:001342-9615","publication_ids":[107364,107765,110330,120472,120515,120540,121078,123397,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2785","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Norfolk Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200945"},{"name":"Rhodesian Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201135"}],"characterised":true,"characterised_year":2005,"clinical_features":"\"Adult [Norfolk Terrier] dogs with the disease had generalized, pigmented hyperkeratosis with epidermal fragility.\" (Credille et al., 2005) Kiener et al. (2023) investigated an \"11-month-old male Chihuahua ... with severe skin lesions gradually progressing from 5 months of age. Clinical examination revealed severe, multifocal hyperkeratosis, mainly affecting paw pads, axillas and the skin around the anus, lips and eyes ... .\"","defect":true,"group_name":"Hyperkeratosis, epidermolytic","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"Mode of inheritance is described as recessive in Norfolk Terriers and as likely dominant in a single Chihuahua (Credille et al., 2005; Kiener et al., 2023).","mondo_terms":[],"name":"Epidermolytic hyperkeratosis; epidermolytic ichthyosis","omia_group_id":1415,"omia_phene_id":2787,"omia_record_id":"OMIA:001415-9615","publication_ids":[107400,107401,107402,107413,123125,123600,125269,125653,127701,132518],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2787","source_release":"retrieved-2026-09-12","summary":"This disorder is a form of ichthyosis.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":true,"characterised_year":2007,"clinical_features":"","defect":false,"group_name":"Coat colour, dominant black","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1416,"omia_phene_id":2788,"omia_record_id":"OMIA:001416-9615","publication_ids":[107410,108244,108341,109581,109586,110284,120501,121090,122792,123008,123917,124017,125653,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2788","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cricopharyngeal dysfunction","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"CD","omia_group_id":1418,"omia_phene_id":2791,"omia_record_id":"OMIA:001418-9615","publication_ids":[107458,130828],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2791","source_release":"retrieved-2026-09-12","summary":"As reported by Davidson et al. (2004), \"The CD phenotype was determined by videofluoroscopy, and dogs were classified as affected if the upper esophageal sphincter (UES) did not open, if there were morphologic abnormalities of the UES, or if opening of the UES was delayed for > or = 6 videofluoroscopic frames (0.2 seconds) after closure of the epiglottis.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Aortic aneurysm, familial thoracic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1419,"omia_phene_id":2792,"omia_record_id":"OMIA:001419-9615","publication_ids":[107463],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2792","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pulmonary adenomatosis","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Egenvall et al. (2004) estimated heritabilities of 0.34 and 0.28 from two different birth-year cohorts. ","mondo_terms":[],"name":"","omia_group_id":840,"omia_phene_id":2793,"omia_record_id":"OMIA:000840-9615","publication_ids":[107464],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2793","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Retinal dysplasia and persistent primary vitreous","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1420,"omia_phene_id":2794,"omia_record_id":"OMIA:001420-9615","publication_ids":[107466],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2794","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Patent ductus venosus","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1173,"omia_phene_id":2804,"omia_record_id":"OMIA:001173-9615","publication_ids":[107631],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2804","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Gangliosidosis, GM2, (AB variant), GM2A-related","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010099","iri":"http://purl.obolibrary.org/obo/MONDO_0010099","label":"Tay-Sachs disease AB variant"}],"name":"","omia_group_id":1427,"omia_phene_id":2816,"omia_record_id":"OMIA:001427-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2816","source_release":"retrieved-2026-09-12","summary":"Redundant - retained for data consistancy. Information previously listed here about a GM2 gangliosidosis in Japanese Chin dogs was moved to OMIA:001461-9615 : Gangliosidosis, GM2, type I (B variant) in Canis lupus familiaris (dog) [19/06/2024]","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"}],"characterised":true,"characterised_year":2011,"clinical_features":"Affected dogs present with fever, gastrointestinal signs, polyarthritis, joint effusion, and lameness and failure to thrive between 6 and 12 weeks of age and have a characteristic ‘ferret-like’ elongated face (Allen et al., 1996; Shearman & Wilton, 2011; Mizukami et al., 2012; Mason et al., 2014; Hegler et al., 2020). Proprioception and placing and hopping reflexes were markedly reduced, while skin reflex and deep pain sensations were normal (Mizukami et al., 2012). Decreased level of consciousness, astasia, and incontinence were also reported by Mizukami et al. (2012). Ill thrift and continued recurrent/chronic infections are hallmark features (Hegler et al., 2020). Dogs are commonly dying or being euthanised by one year of age (Wouda et al. 2010). [IT thanks DVM students Laura Sweeting and Tracy Yeung, who provided the basis of this contribution in April 2022]","defect":true,"group_name":"Trapped Neutrophil Syndrome","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1428,"omia_phene_id":2817,"omia_record_id":"OMIA:001428-9615","publication_ids":[67430,107758,108303,110176,112576,113600,116840,121266,123205,123206,123207,123868,126519,127365,127805,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2817","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dachshund, Miniature Long-Haired (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200409"},{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"}],"characterised":true,"characterised_year":2006,"clinical_features":"\"The earliest ophthalmoscopic signs, which include changes in the granular appearance of the tapetal fundus followed by generalized tapetal hyperreflectivity and retinal vascular attenuation, are detectable at approximately 6 months of age. The electroretinogram of affected dogs is typically normal in waveform and latency at 10 weeks of age but markedly reduced in amplitude or even virtually extinguished by 9 months.\" (Mellersh et al., 2006)","defect":true,"group_name":"Retinal atrophy - Cone-rod dystrophy 4","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Early-onset cone-rod dystrophy, RPGRIP1-CRD","omia_group_id":1432,"omia_phene_id":2822,"omia_record_id":"OMIA:001432-9615","publication_ids":[37852,107842,109280,109494,111393,112004,112094,112095,112156,112171,112670,112671,113344,117846,117847,117848,118114,124449,125219,125776,126404,127544,128871,129719,132390],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2822","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Knobbed acrosome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":576,"omia_phene_id":2831,"omia_record_id":"OMIA:000576-9615","publication_ids":[107925],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2831","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"},{"name":"Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200638"},{"name":"Irish Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200702"},{"name":"Irish Wolfhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200706"},{"name":"Leonberger (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200819"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Saint Bernard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201160"},{"name":"Scottish Deerhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201195"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Osteosarcoma","inheritance":null,"inheritance_text":"In addition to somatic mutations leading to osteosarcoma, it is likely that regulatory, non-coding variants underlie the increased risk for cancer development in some breeds. Momen et al. (2021) estimated that the heritability of osteosarcoma in the Irish Wolfhound was 0.65 and Letko et al. (2021) estimated heritability (h2SNP) to be 20.6% in Leonberger dogs based on a breed prevalence of 20%.","mondo_terms":[],"name":"","omia_group_id":1441,"omia_phene_id":2840,"omia_record_id":"OMIA:001441-9615","publication_ids":[108209,108210,108211,108212,108213,108214,108216,108217,108218,108219,108220,108221,108222,108223,109314,109315,109316,109317,109318,109319,109320,109321,109322,109323,109324,114091,114223,115349,116051,116068,117772,118180,118747,119273,119581,121153,121447,122590,122611,122636,122776,122893,122894,122987,123157,123260,123261,124166,124357,124712,124868,125025,125120,125162,125165,125221,125323,125662,125665,125879,125944,126042,126432,126555,126656,126972,127031,127143,127325,127379,127384,127614,128076,128489,128576,128989,129412,129548,129693,129923,129958,130110,130122,130558,130727,130809,130838,130840,131120,132117,132248,132316,132345,132487,132570,132714,132726,132779,133010,133040,133193,133345,133440],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2840","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200034"},{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Boerboel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200185"},{"name":"Bull Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200253"},{"name":"Dogue de Bordeaux (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200450"},{"name":"English Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200485"},{"name":"English Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200492"},{"name":"Great Pyrenees (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200629"},{"name":"Italian Cane Corso (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200712"},{"name":"Perro de Presa Canario (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201000"}],"characterised":true,"characterised_year":2007,"clinical_features":"Signs of cmr1 develop around 13 weeks of age, and include multiple tan-pink subretinal patches in both the tapetal and the non-tapetal fundus along with focal areas of tapetal hyper-reflectivity. The lesions elevate the retina. They progress as the animal ages to focal areas of retinal degeneration and retinal pigment epithelial hypertrophy and pigmentation (Grahn et al., 1998).","defect":true,"group_name":"Multifocal retinopathy 1","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0700239","iri":"http://purl.obolibrary.org/obo/MONDO_0700239","label":"BEST1-related recessive retinopathy"}],"name":"Canine multifocal retinopathy","omia_group_id":1444,"omia_phene_id":2845,"omia_record_id":"OMIA:001444-9615","publication_ids":[108237,109605,109893,110283,112004,112157,112340,115070,116012,116893,122029,124287,125219,126702,127074,127859,129012,129036,129719,129760,130075,133228],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2845","source_release":"retrieved-2026-09-12","summary":"Canine multifocal retinopathy (cmr) is an ocular disorder characterized by multiple areas of retinal degeneration. The detection of three different mutations in the one gene (BEST1) has led to the naming of three different forms of the disorder (cmr1 [OMIA:001444-9615], cmr2 [OMIA:001553-9615], cmr3 [OMIA:001554-9615]), all of which are very similar clinically. The form of cmr detailed in this entry (cmr1) occurs in several breeds (listed below).","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Spondyloepiphyseal dysplasia, congenital type","inheritance":{"code":"X","name":"X-linked"},"inheritance_text":"","mondo_terms":[],"name":"X-linked spondylo-epiphyseal dysplasia tarda","omia_group_id":1448,"omia_phene_id":2854,"omia_record_id":"OMIA:001448-9615","publication_ids":[108300],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2854","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":true,"characterised_year":2011,"clinical_features":"","defect":false,"group_name":"Coat colour, harlequin","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1454,"omia_phene_id":2865,"omia_record_id":"OMIA:001454-9615","publication_ids":[83192,108364,108365,110250,120501,122792,124017],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2865","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dachshund, Miniature Wire-Haired (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200411"},{"name":"Dachshund, Standard Wire-Haired (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200421"}],"characterised":true,"characterised_year":2008,"clinical_features":"","defect":true,"group_name":"Retinal atrophy - Cone-rod dystrophy, NPHP4-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0011756","iri":"http://purl.obolibrary.org/obo/MONDO_0011756","label":"Senior-Loken syndrome 4"}],"name":"Cone-rod dystrophy, standard Wire-haired dachshund; progressive retinal atrophy crd SWD","omia_group_id":1455,"omia_phene_id":2866,"omia_record_id":"OMIA:001455-9615","publication_ids":[108369,109413,112004,112118,112119,115682,125219,126404,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2866","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Stereotypes","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1459,"omia_phene_id":2871,"omia_record_id":"OMIA:001459-9615","publication_ids":[108432],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2871","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Boykin Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200214"},{"name":"Chesapeake Bay Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200326"},{"name":"Curly Coated Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200397"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"}],"characterised":true,"characterised_year":2008,"clinical_features":"Affected dogs have normal muscle mass, normal patellar reflexes before an episode of EIC, normal findings on muscle biopsy and are capable of moderate exertion without showing signs (Taylor et al., 2008, Patterson et al., 2008). Signs begin within 2 minutes after cessation of 5 to 15 minutes of strenuous exercise. Affected dogs develop a wobbly gait with hindlimb weakness and incoordination, wide based stance, and walking with crouched hind legs. Signs can progress to full body weakness, extensor rigidity, confusion, loss of consciousness, and rarely death. Episodes frequently last 5-10 minutes, often with complete recovery after 30 minutes. Loss of patellar reflexes persists after initial recovery.","defect":true,"group_name":"Exercise-induced collapse","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Exercise-induced callapse in Labrador retrievers is a Mendelian trait. Norton et al. (2021) concluded that the disease in border collies (BCC) is a moderately- to highly-heritable complex polygenetic disease.","mondo_terms":[],"name":"","omia_group_id":1466,"omia_phene_id":2885,"omia_record_id":"OMIA:001466-9615","publication_ids":[108545,108546,110428,110429,110430,111896,112389,113759,114779,114989,116800,117079,120017,122957,125653,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2885","source_release":"retrieved-2026-09-12","summary":"Exercise-induced collapse (EIC) is an inherited neuromuscular disorder characterized by exercise intolerance in otherwise healthy young adult dogs. Clinical signs are precipitated by strenuous exercise. A causative mutation in dynamin 1 has been identified in retriever breeds listed below, but not yet in Border Collies. [Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT in 2011; revised by FN 29 Oct 2020]","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":true,"characterised_year":2009,"clinical_features":"","defect":true,"group_name":"Neuropathy, sensory ataxic","inheritance":{"code":"MIT","name":"Mitochondrial"},"inheritance_text":"This disorder showed maternal transmission: all affected dogs in a pedigree traced back to a single female, which is consistent with mitochondrial inheritance.","mondo_terms":[],"name":"","omia_group_id":1467,"omia_phene_id":2888,"omia_record_id":"OMIA:001467-9615","publication_ids":[108574,108575,124009,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2888","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Chinese Crested (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200345"},{"name":"Peruvian Hairless Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201004"},{"name":"Xoloitzcuintli (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201436"}],"characterised":true,"characterised_year":2008,"clinical_features":"Affected dogs have varying degrees of hairlessness but most commonly, almost the entire body is affected. Depending on the breed, there will be tufts of hair on the distal limbs and the top of the head. Some dogs have very abnormal teeth, many of which are missing. Others appear to have only mild abnormalities. Toenails may be long and brittle. Neonatal deaths are more common in hairless pups than in their normal littermates. Wiener et al. (2013) provided extensive details of the clinical and histological differences between the \"three subphenotypes (true hairless, semi-coated and powderpuffs) of Chinese crested dogs\" and also \"clearly demonstrated distinct differences between the canine ectodermal dysplasia in Chinese crested dogs and dogs with X-linked ectodermal dysplasia\".","defect":true,"group_name":"Ectodermal dysplasia","inheritance":{"code":"AID","name":"Autosomal incomplete dominant"},"inheritance_text":"","mondo_terms":[],"name":"Canine ectodermal dysplasia","omia_group_id":323,"omia_phene_id":2890,"omia_record_id":"OMIA:000323-9615","publication_ids":[38784,80022,107261,108582,108583,113695,115024,117501,117656,123125,124961],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2890","source_release":"retrieved-2026-09-12","summary":"Canine ectodermal dysplasia is characterized by hairlessness and missing or abnormally shaped teeth. Early breeding studies demonstrated embryonal lethality of homozygous mutant animals and an autosomal semidominant mode of inheritance (Robinson, 1985). In detail, homozygous mutant embryos die very early during pregnancy and are resorbed, heterozygous dogs exhibit the ectodermal dysplasia phenotype, which is characteristic of several hairless dog breeds. Later studies showed the trait is caused by a 7 bp duplication in exon 1 of FOXI3. This is a desired trait in several breeds, including the Peruvian Inca, Mexican Hairless, and Chinese Crested Dog. Edited by Dr. Margret Casal

See also OMIA:001279-9615 : Hypotrichosis, recessive in Canis lupus familiaris (dog)","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Chinese Crested (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200345"},{"name":"Ibizan Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200688"},{"name":"Kerry Blue Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200764"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2013,"clinical_features":"Stee et al. 2023: \"This disease has an onset of signs between 9 weeks and 6 months of age. Dogs initially present a mild intention tremor and stiffness in thoracic limb gait, which progresses within 3 to 4 months to severe hypermetric ataxia, spasticity, truncal sway, wide-based stance, delayed postural reactions, and decreased menace response [de Lahunta and Averill, 1976; Deforest et al., 1978; Montgomery and Storts, 1983; O'Brien et al. 2005; de Lahunta et al., 2021]. Signs progress to akinesia, inability to stand and euthanasia by 1 to 2 years of age. Cerebellar atrophy and T2W hyperintensity at the level of the caudate nuclei, putamen, and substantia nigra are visible on MRI in dogs affected for several weeks [O'Brien et al., 2005; de Lahunta et al., 2021].\"","defect":true,"group_name":"Multiple system degeneration, SERAC1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Canine multiple system degeneration; striatonigral and cerebello-olivary degeneration; hereditary cerebellar neuronal abiotrophy","omia_group_id":1468,"omia_phene_id":2891,"omia_record_id":"OMIA:001468-9615","publication_ids":[6166,6167,8160,9228,108583,123094,123095,125285,125286,125287,125288,125289,128324,128962,133144],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2891","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Brussels Griffon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200241"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Coton de Tulear (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200389"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Maltese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200856"},{"name":"Papillon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200985"},{"name":"Pekingese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200994"},{"name":"Pug (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201089"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Meningoencephalitis","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"includes necrotizing/necrotising meningoencephalitis, Pug dog myelopathy (PDM), Pug dog encephalitis (PDE); spinal only meningoencephalomyelitis of unknown origin","omia_group_id":1470,"omia_phene_id":2896,"omia_record_id":"OMIA:001470-9615","publication_ids":[108694,108695,108696,108697,108698,108699,108700,108701,108702,110332,110333,110334,110335,110523,115404,123841,123842,123843,124762,126229,127479,127482,127483,127855,128809,129690,133535],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2896","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Poodle, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201056"}],"characterised":true,"characterised_year":2008,"clinical_features":"Affected puppies are small at birth and do not develop normally. They initially nurse poorly, but begin nursing sufficiently after several days (Chen et al., 2008). At approximately 3 weeks of age, weakness, ataxia, whole-body tremors, wide-based stance with increased extensor tone, and axial muscle weakness with neck ventroflexion is observed. Affected pups do not interact with the dam or littermates and have slow responses to external stimuli (Chen et al., 2008). At approximately 3 to 6 weeks of age, affected puppies develop generalized clonic-tonic seizures that quickly become refractory to treatment. They become laterally recumbent with extensor rigidity and opisthotonus, and usually die or are euthanized before 7 weeks of age (Chen et al., 2008; Yu et al. 2020).","defect":true,"group_name":"Neonatal encephalopathy with seizures, ATF2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1471,"omia_phene_id":2900,"omia_record_id":"OMIA:001471-9615","publication_ids":[108763,123299,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2900","source_release":"retrieved-2026-09-12","summary":"The disorder is characterized by pups that are small at birth, fail to nurse or thrive, then develop neurological signs and usually die by 7 weeks of age. A genetic test is available.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"}],"characterised":true,"characterised_year":2006,"clinical_features":"Progressive loss of vision under dim light begins in affected dogs at 6-7 months of age (Sanders et al., 2011). Unilaterally decreased menace response begins at 8 months of age, followed by intention and resting tremors of the head, and myoclonus. Cerebellar ataxia (dysmetria, incoordination) began at 9-10 months of age. Other neurological signs include altered cognitive function, motor dysfunction, and myoclonus. Tests of cognitive ability were significantly different from normal dogs at 6 months of age (Sanders et al., 2011). Other signs reported include seizures, hyperactivity, howling, aggressive behavior, hypermetria, circling, and diarrhea (Awano et al., 2006). No effective treatment has been identified, and affected dogs die by 12 months of age (Awano et al., 2006). Intrathecal administration of TPP1 caused a robust immune response and did not improve the overall function of treated dogs (Vuillemenot et al., 2011).","defect":true,"group_name":"Neuronal ceroid lipofuscinosis, 2","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0008769","iri":"http://purl.obolibrary.org/obo/MONDO_0008769","label":"neuronal ceroid lipofuscinosis 2"}],"name":"","omia_group_id":1472,"omia_phene_id":2901,"omia_record_id":"OMIA:001472-9615","publication_ids":[107931,110463,110464,113540,114717,115072,115883,116006,116298,116880,116994,117014,117387,117735,120540,120830,122714,123943,128324,129317,129318,129319,129320,129322,129324,129325,129327],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2901","source_release":"retrieved-2026-09-12","summary":"The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases characterized by intraneuronal accumulation of fluorescent granules, early neuronal death, and progressive neurodegeneration of the central nervous system. NCL2 is an early-onset disease of miniature long-haired dachshunds. Early signs include progressive loss of vision under dim light, decreased menace response, tremors of the head, myoclonus, and cerebellar ataxia. Signs appear in young dogs and progress rapidly, with death by 12 months of age., as no effective treatment has been identified. The mode of inheritance is autosomal recessive. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT Kick et al. (2023) \"A study using the dog model was performed to evaluate the efficacy of ocular gene therapy to provide a continuous, long-term source of human TPP1 (hTPP1) to the retina, inhibit retinal degeneration and preserve retinal function. ... Intravitreal administration of AAV2.CAG.hTPP1 resulted in stable, widespread expression of hTPP1 throughout the inner retina, prevented disease-related declines in retinal function and inhibited disease-related cell loss and storage body accumulation in the retina for at least 6 months. Uveitis occurred in eyes treated with the hTPP1 vector, but this did not prevent therapeutic efficacy.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Afghan Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200004"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200375"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"},{"name":"Pomeranian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201043"},{"name":"Samoyed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201174"}],"characterised":true,"characterised_year":2006,"clinical_features":"","defect":false,"group_name":"Hair, long","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0008593","iri":"http://purl.obolibrary.org/obo/MONDO_0008593","label":"trichomegaly"}],"name":"","omia_group_id":439,"omia_phene_id":2904,"omia_record_id":"OMIA:000439-9615","publication_ids":[213,108432,108791,108792,111133,113549,117501,120501,121972,125653,125980,130599,130739,132664,132665],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2904","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Persistent truncus arteriosus","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":795,"omia_phene_id":2905,"omia_record_id":"OMIA:000795-9615","publication_ids":[108798,111590],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2905","source_release":"retrieved-2026-09-12","summary":"The first report of this disorder in dogs was by Serres et al. (2009)","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Bichon Frise (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200163"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Newfoundland (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200938"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Staffordshire Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201296"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Rupture of the cranial cruciate ligament, predisposition to","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Wilke et al. (2006) showed that this disorder is heritable, but the form of inheritance remains to be determined.\r\nGWAS conducted by Baker et al. (2017) and Hayward et al. (2019) established the multifactorial nature of this disorder, with numerous QTL reported.","mondo_terms":[],"name":"cranial cruciate ligament rupture; CCL disease; anterior cruciate ligament rupture; cranial cruciate ligament disease; cruciate disease","omia_group_id":1474,"omia_phene_id":2906,"omia_record_id":"OMIA:001474-9615","publication_ids":[108495,108802,108803,108943,114091,117627,117723,118049,119932,120857,121417,122033,122132,122188,122606,123082,123083,123307,123308,123938,124074,124533,124543,124869,125025,125407,125436,125731,126183,126184,127114,128360,128509,129101,129516,130453,130538,130758,132127,132133,133467],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2906","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Hepatitis, copper-associated chronic (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Information previously presented here has been merged with 'OMIA 001071-9615 : Wilson disease in Canis lupus familiaris' [10/01/2023]","omia_group_id":1475,"omia_phene_id":2909,"omia_record_id":"OMIA:001475-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2909","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"}],"characterised":true,"characterised_year":2009,"clinical_features":"Clinical features include reduced agility, pain, spontaneous and intrauterine bone and teeth fractures, joint hyperlaxity, brittle, thin-walled primary teeth, and reduced bone density on radiography (Seeliger et al., 2003). Low bone mass and reduced bone strength leading to bone fragility and deformity can be observed (Lindert et al., 2015). other clinical signs include blue-grey sclera, progressive hearing loss, dwarfism, and other developmental complications (Drögemüller et al., 2009). Stillbirths have been reported to occur as part of this condition (Schütz et al., 2013). [IT thanks DVM student Carol Bency, who provided the basis of this contribution in April 2022]","defect":true,"group_name":"Osteogenesis imperfecta, SERPINH1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013459","iri":"http://purl.obolibrary.org/obo/MONDO_0013459","label":"osteogenesis imperfecta type 10"}],"name":"Brittle bone disease","omia_group_id":1483,"omia_phene_id":2922,"omia_record_id":"OMIA:001483-9615","publication_ids":[108987,113478,113479,113480,113481,113626,114191,116046,116047],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2922","source_release":"retrieved-2026-09-12","summary":"Several forms of osteogenesis imperfecta have been identified so far in dogs. See also 'OMIA000754-9615 Osteogenesis imperfecta, generic', 'OMIA002126-9615 Osteogenesis imperfecta, type III, COL1A1-related' and 'OMIA 002112-9615 Osteogenesis imperfecta, COL1A2-related'","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Pomeranian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201043"}],"characterised":true,"characterised_year":2009,"clinical_features":"","defect":true,"group_name":"Vitamin D-deficiency rickets, type II","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0019642","iri":"http://purl.obolibrary.org/obo/MONDO_0019642","label":"vitamin D-dependent rickets, type 2"}],"name":"","omia_group_id":1431,"omia_phene_id":2926,"omia_record_id":"OMIA:001431-9615","publication_ids":[108962,121864],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2926","source_release":"retrieved-2026-09-12","summary":"Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Pug (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201089"},{"name":"Saint Bernard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201160"}],"characterised":true,"characterised_year":2023,"clinical_features":"Rhodin et al. (2023) investigated related pugs from 2 litters: \"Three pugs had clinical signs including, lameness, bone deformities, and dyspnea. One other pug was found dead. Radiographs of 2 affected pugs, 5 and 6 months old, showed generalized widening, and irregular margination of the physes of both the appendicular and the axial skeleton with generalized decrease in bone opacity and bulbous swelling of the costochondral junctions. Two pugs had low serum calcium and 1,25 (OH)2D3 concentrations. Test results further indicated secondary hyperparathyroidism with adequate concentrations of 25-hydroxyvitamin D.\"","defect":true,"group_name":"Vitamin D-deficiency rickets, type IA","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0020723","iri":"http://purl.obolibrary.org/obo/MONDO_0020723","label":"vitamin D-dependent rickets, type 1A"}],"name":"","omia_group_id":837,"omia_phene_id":2927,"omia_record_id":"OMIA:000837-9615","publication_ids":[108963,121864,125192],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2927","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Myopia","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"In an investigation of the heritability of lenticular myopia in English Springer Spaniels, Kubai et al. (2013) reported \"Moderate heritability was present for refractive error with a mean value of 0.29 (95% highest probability density: 0.07 to 0.50)\".","mondo_terms":[],"name":"","omia_group_id":1487,"omia_phene_id":2932,"omia_record_id":"OMIA:001487-9615","publication_ids":[109003,109004,114992,114993,114994,126346,130559],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2932","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":true,"characterised_year":2010,"clinical_features":"","defect":false,"group_name":"Coat colour, grizzle","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"Dürig et al. (2018) proposed naming the grizzle allele as E^G","mondo_terms":[],"name":"Known as domino in Afghan Hounds","omia_group_id":1495,"omia_phene_id":2957,"omia_record_id":"OMIA:001495-9615","publication_ids":[109139,118064,122792,123315,124017,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2957","source_release":"retrieved-2026-09-12","summary":"See also: OMIA:001199-9615 : Coat colour, extension in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Portuguese Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201077"}],"characterised":true,"characterised_year":2010,"clinical_features":"","defect":false,"group_name":"Improper coat","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1498,"omia_phene_id":2961,"omia_record_id":"OMIA:001498-9615","publication_ids":[109183,117501],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2961","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Aggression","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1499,"omia_phene_id":2962,"omia_record_id":"OMIA:001499-9615","publication_ids":[109186],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2962","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Anal sac gland carcinoma","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1500,"omia_phene_id":2965,"omia_record_id":"OMIA:001500-9615","publication_ids":[109211],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2965","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Staffordshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200055"}],"characterised":true,"characterised_year":2010,"clinical_features":"Signs include late onset and slowly progressive behavioral changes, cognitive and motor degeneration, ataxia, seizures, and premature death. Kick et al. (2025) report retinal function deficits in affected American Staffordshire Terriers.","defect":true,"group_name":"Lysosomal storage disease, ARSG related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Cerebellar cortical abiotrophy, cerebellar cortical degeneration, neuronal ceroid lipofuscinosis","omia_group_id":1503,"omia_phene_id":2973,"omia_record_id":"OMIA:001503-9615","publication_ids":[106513,107356,107467,109281,110465,113540,114989,117239,117735,120540,121013,121140,121141,121142,125231,125285,128324,131151,133124],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2973","source_release":"retrieved-2026-09-12","summary":"Dogs with this lysosomal storage disorder have late-onset and slowly progressive behavioral changes, cognitive and motor degeneration, ataxia, seizures, and premature death.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"Italian Cane Corso (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200712"}],"characterised":true,"characterised_year":2010,"clinical_features":"Diffuse retinal thinning and severe retinal vessel degeneration were present at 7 months of age, followed by complete blindness at 8 months of age (Sanders et al., 2010). Additional signs appeared at nine months of age, including disorientation, ataxia, weakness, visual impairment, and behavioral changes. These progressed to kyphosis and stiffness in gait, uncontrolled rhythmic head movements, inability to recognize the owner, severe vision loss, sensitivity to loud noise, inappropriate vocalization, circling, loss of coordination and general weakness. There is no effective treatment.","defect":true,"group_name":"Neuronal ceroid lipofuscinosis, 1","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009744","iri":"http://purl.obolibrary.org/obo/MONDO_0009744","label":"neuronal ceroid lipofuscinosis 1"}],"name":"","omia_group_id":1504,"omia_phene_id":2974,"omia_record_id":"OMIA:001504-9615","publication_ids":[109282,110465,113540,117448,117735,120540,122714,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2974","source_release":"retrieved-2026-09-12","summary":"The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases characterized by intraneuronal accumulation of fluorescent granules, early neuronal death, and progressive neurodegeneration of the central nervous system. NCL1 is a rare disorder of dachshunds caused by severely deficient palmitoyl protein thioesterase (PPT1) activity. Signs appear as early as nine months of age, and include behavioral changes, nervousness, disorientation, ataxia, weakness, kyphosis, stiffness of gait, uncontrolled rhythmic head movements, and visual impairment. Fundic examination may show diffuse retinal thinning and retinal vessel degeneration. The mode of inheritance is autosomal recessive. There is no effective treatment. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT","taxon_id":9615,"upheno_terms":[{"id":"HP:0000505","iri":"http://purl.obolibrary.org/obo/HP_0000505","label":"Visual impairment"},{"id":"HP:0000505","iri":"http://purl.obolibrary.org/obo/HP_0000505","label":"Visual impairment"},{"id":"HP:0000529","iri":"http://purl.obolibrary.org/obo/HP_0000529","label":"Progressive visual loss"},{"id":"HP:0000618","iri":"http://purl.obolibrary.org/obo/HP_0000618","label":"Blindness"},{"id":"HP:0000728","iri":"http://purl.obolibrary.org/obo/HP_0000728","label":"Reduced ability to form peer relationships"},{"id":"HP:0000739","iri":"http://purl.obolibrary.org/obo/HP_0000739","label":"Anxiety"},{"id":"HP:0001251","iri":"http://purl.obolibrary.org/obo/HP_0001251","label":"Ataxia"},{"id":"HP:0001337","iri":"http://purl.obolibrary.org/obo/HP_0001337","label":"Tremor"},{"id":"HP:0002311","iri":"http://purl.obolibrary.org/obo/HP_0002311","label":"Incoordination"},{"id":"HP:0002457","iri":"http://purl.obolibrary.org/obo/HP_0002457","label":"Abnormal head movements"},{"id":"HP:0002509","iri":"http://purl.obolibrary.org/obo/HP_0002509","label":"Limb hypertonia"},{"id":"HP:0003204","iri":"http://purl.obolibrary.org/obo/HP_0003204","label":"Intracellular accumulation of autofluorescent lipopigment storage material"},{"id":"HP:0003204","iri":"http://purl.obolibrary.org/obo/HP_0003204","label":"Intracellular accumulation of autofluorescent lipopigment storage material"},{"id":"HP:0003324","iri":"http://purl.obolibrary.org/obo/HP_0003324","label":"Generalized muscle weakness"},{"id":"HP:0003551","iri":"http://purl.obolibrary.org/obo/HP_0003551","label":"Difficulty climbing stairs"},{"id":"HP:0008046","iri":"http://purl.obolibrary.org/obo/HP_0008046","label":"Abnormal retinal vascular morphology"},{"id":"HP:0030329","iri":"http://purl.obolibrary.org/obo/HP_0030329","label":"Retinal thinning on OCT"},{"id":"HP:0033044","iri":"http://purl.obolibrary.org/obo/HP_0033044","label":"Motor regression"},{"id":"HP:0033329","iri":"http://purl.obolibrary.org/obo/HP_0033329","label":"Abnormal postural reflex"},{"id":"HP:0034332","iri":"http://purl.obolibrary.org/obo/HP_0034332","label":"Cognitive regression"},{"id":"MP:0000160","iri":"http://purl.obolibrary.org/obo/MP_0000160","label":"kyphosis"},{"id":"MP:0000436","iri":"http://purl.obolibrary.org/obo/MP_0000436","label":"abnormal head movements"},{"id":"MP:0000746","iri":"http://purl.obolibrary.org/obo/MP_0000746","label":"weakness"},{"id":"MP:0001393","iri":"http://purl.obolibrary.org/obo/MP_0001393","label":"ataxia"},{"id":"MP:0001393","iri":"http://purl.obolibrary.org/obo/MP_0001393","label":"ataxia"},{"id":"MP:0001411","iri":"http://purl.obolibrary.org/obo/MP_0001411","label":"spinning"},{"id":"MP:0001524","iri":"http://purl.obolibrary.org/obo/MP_0001524","label":"impaired limb coordination"},{"id":"MP:0002001","iri":"http://purl.obolibrary.org/obo/MP_0002001","label":"blindness"},{"id":"MP:0002001","iri":"http://purl.obolibrary.org/obo/MP_0002001","label":"blindness"},{"id":"MP:0002063","iri":"http://purl.obolibrary.org/obo/MP_0002063","label":"abnormal learning/memory/conditioning"},{"id":"MP:0002090","iri":"http://purl.obolibrary.org/obo/MP_0002090","label":"abnormal vision"},{"id":"MP:0002090","iri":"http://purl.obolibrary.org/obo/MP_0002090","label":"abnormal vision"},{"id":"MP:0002557","iri":"http://purl.obolibrary.org/obo/MP_0002557","label":"abnormal social/conspecific interaction behavior"},{"id":"MP:0002792","iri":"http://purl.obolibrary.org/obo/MP_0002792","label":"abnormal retina vasculature morphology"},{"id":"MP:0002980","iri":"http://purl.obolibrary.org/obo/MP_0002980","label":"abnormal postural reflex"},{"id":"MP:0003314","iri":"http://purl.obolibrary.org/obo/MP_0003314","label":"dysmetria"},{"id":"MP:0003354","iri":"http://purl.obolibrary.org/obo/MP_0003354","label":"astrocytosis"},{"id":"MP:0005059","iri":"http://purl.obolibrary.org/obo/MP_0005059","label":"lysosomal protein accumulation"},{"id":"MP:0005059","iri":"http://purl.obolibrary.org/obo/MP_0005059","label":"lysosomal protein accumulation"},{"id":"MP:0005191","iri":"http://purl.obolibrary.org/obo/MP_0005191","label":"head tilt"},{"id":"MP:0005202","iri":"http://purl.obolibrary.org/obo/MP_0005202","label":"lethargy"},{"id":"MP:0005254","iri":"http://purl.obolibrary.org/obo/MP_0005254","label":"strabismus"},{"id":"MP:0006099","iri":"http://purl.obolibrary.org/obo/MP_0006099","label":"thin cerebellar granule layer"},{"id":"MP:0008912","iri":"http://purl.obolibrary.org/obo/MP_0008912","label":"nervous"},{"id":"MP:0008913","iri":"http://purl.obolibrary.org/obo/MP_0008913","label":"weaving"},{"id":"MP:0011965","iri":"http://purl.obolibrary.org/obo/MP_0011965","label":"decreased total retina thickness"},{"id":"MP:0012053","iri":"http://purl.obolibrary.org/obo/MP_0012053","label":"limb hypertonicity"},{"id":"MP:0013140","iri":"http://purl.obolibrary.org/obo/MP_0013140","label":"excessive vocalization"},{"id":"MP:0020222","iri":"http://purl.obolibrary.org/obo/MP_0020222","label":"abnormal alertness"},{"id":"MP:0021112","iri":"http://purl.obolibrary.org/obo/MP_0021112","label":"impaired social recognition"},{"id":"UPHENO:0019200","iri":"http://purl.obolibrary.org/obo/UPHENO_0019200","label":"arrested detection of light stimulus involved in visual perception"},{"id":"UPHENO:0052843","iri":"http://purl.obolibrary.org/obo/UPHENO_0052843","label":"decreased qualitatively memory"},{"id":"UPHENO:0080275","iri":"http://purl.obolibrary.org/obo/UPHENO_0080275","label":"decreased motor coordination"},{"id":"UPHENO:0080275","iri":"http://purl.obolibrary.org/obo/UPHENO_0080275","label":"decreased motor coordination"},{"id":"UPHENO:0080287","iri":"http://purl.obolibrary.org/obo/UPHENO_0080287","label":"decreased bonding behavior"},{"id":"UPHENO:0080789","iri":"http://purl.obolibrary.org/obo/UPHENO_0080789","label":"decreased thickness of the granular layer of cerebellar cortex"},{"id":"UPHENO:0083866","iri":"http://purl.obolibrary.org/obo/UPHENO_0083866","label":"increased protein localization in lysosome"},{"id":"UPHENO:0083866","iri":"http://purl.obolibrary.org/obo/UPHENO_0083866","label":"increased protein localization in lysosome"},{"id":"UPHENO:0087970","iri":"http://purl.obolibrary.org/obo/UPHENO_0087970","label":"retina blood vessel morphology phenotype"}]} +{"breeds":[{"name":"American Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200034"}],"characterised":true,"characterised_year":2006,"clinical_features":"Onset of signs is usually before 2 years of age and includes hypermetria, dysmetria, paraparesis, ataxia, and progressive psychomotor degeneration. Signs progress slowly, with death by 7 years of age (Awano et al., 2006).Unlike many other NCLs, American bulldogs with NCL10 do not show signs of cerebral dysfunction or blindness (Evans et al, 2005). ","defect":true,"group_name":"Neuronal ceroid lipofuscinosis, 10","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0012414","iri":"http://purl.obolibrary.org/obo/MONDO_0012414","label":"neuronal ceroid lipofuscinosis 10"}],"name":"","omia_group_id":1505,"omia_phene_id":2975,"omia_record_id":"OMIA:001505-9615","publication_ids":[107305,107883,109283,113540,117735,120540,122714,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2975","source_release":"retrieved-2026-09-12","summary":"The neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal storage diseases characterized by intraneuronal accumulation of fluorescent granules and early neuronal death. Onset is usually before 2 years of age, with death by 7 years of age. Unlike other forms of NCL, dogs with NCL10 do not show signs of cerebral dysfunction or blindness. A genetic test is available.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":true,"characterised_year":2005,"clinical_features":"Dogs present at 18-24 months of age with progressive behavioral changes, hyperactivity, dementia, aggression, loss of coordination, ataxia, delayed postural responses, blindness, and slow pupillary light responses (Taylor et al., 1988, Melville et al., 2005). Blind affected dogs have normal retinal structure on fundic and light microscopic examination, but have severe ultrastructural lesions (Taylor et al., 1988). Changes observed by MRI include slightly dilated cerebral sulci and cerebellar fissures, and left ventricular enlargement (Koie et al., 2004).","defect":true,"group_name":"Neuronal ceroid lipofuscinosis, 5","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009745","iri":"http://purl.obolibrary.org/obo/MONDO_0009745","label":"neuronal ceroid lipofuscinosis 5"}],"name":"","omia_group_id":1482,"omia_phene_id":2976,"omia_record_id":"OMIA:001482-9615","publication_ids":[25710,28321,87466,107328,107473,110627,110628,112463,113540,113597,116005,116672,116840,117735,119205,120540,121266,121401,121887,122714,123544,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2976","source_release":"retrieved-2026-09-12","summary":"The neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal storage diseases characterized by intraneuronal accumulation of fluorescent granules and early neuronal death. Affected Border collies present at 18-24 months of age. There is a genetic test available.","taxon_id":9615,"upheno_terms":[{"id":"HP:0000713","iri":"http://purl.obolibrary.org/obo/HP_0000713","label":"Agitation"},{"id":"HP:0000718","iri":"http://purl.obolibrary.org/obo/HP_0000718","label":"Aggressive behavior"},{"id":"HP:0000722","iri":"http://purl.obolibrary.org/obo/HP_0000722","label":"Compulsive behaviors"},{"id":"HP:0000733","iri":"http://purl.obolibrary.org/obo/HP_0000733","label":"Motor stereotypy"},{"id":"HP:0000739","iri":"http://purl.obolibrary.org/obo/HP_0000739","label":"Anxiety"},{"id":"HP:0001272","iri":"http://purl.obolibrary.org/obo/HP_0001272","label":"Cerebellar atrophy"},{"id":"HP:0002069","iri":"http://purl.obolibrary.org/obo/HP_0002069","label":"Bilateral tonic-clonic seizure"},{"id":"HP:0002119","iri":"http://purl.obolibrary.org/obo/HP_0002119","label":"Ventriculomegaly"},{"id":"HP:0002283","iri":"http://purl.obolibrary.org/obo/HP_0002283","label":"Global brain atrophy"},{"id":"HP:0002311","iri":"http://purl.obolibrary.org/obo/HP_0002311","label":"Incoordination"},{"id":"HP:0002312","iri":"http://purl.obolibrary.org/obo/HP_0002312","label":"Clumsiness"},{"id":"HP:0007015","iri":"http://purl.obolibrary.org/obo/HP_0007015","label":"Poor gross motor coordination"},{"id":"HP:0007359","iri":"http://purl.obolibrary.org/obo/HP_0007359","label":"Focal-onset seizure"},{"id":"HP:0010544","iri":"http://purl.obolibrary.org/obo/HP_0010544","label":"Vertical nystagmus"},{"id":"HP:0011512","iri":"http://purl.obolibrary.org/obo/HP_0011512","label":"Hyperpigmentation of the fundus"},{"id":"HP:0033044","iri":"http://purl.obolibrary.org/obo/HP_0033044","label":"Motor regression"},{"id":"HP:0034332","iri":"http://purl.obolibrary.org/obo/HP_0034332","label":"Cognitive regression"},{"id":"HP:0100754","iri":"http://purl.obolibrary.org/obo/HP_0100754","label":"Mania"},{"id":"MP:0001263","iri":"http://purl.obolibrary.org/obo/MP_0001263","label":"weight loss"},{"id":"MP:0001357","iri":"http://purl.obolibrary.org/obo/MP_0001357","label":"increased aggression towards humans"},{"id":"MP:0001358","iri":"http://purl.obolibrary.org/obo/MP_0001358","label":"aggression towards inanimate objects"},{"id":"MP:0001363","iri":"http://purl.obolibrary.org/obo/MP_0001363","label":"increased anxiety-related response"},{"id":"MP:0001393","iri":"http://purl.obolibrary.org/obo/MP_0001393","label":"ataxia"},{"id":"MP:0001411","iri":"http://purl.obolibrary.org/obo/MP_0001411","label":"spinning"},{"id":"MP:0001524","iri":"http://purl.obolibrary.org/obo/MP_0001524","label":"impaired limb coordination"},{"id":"MP:0002001","iri":"http://purl.obolibrary.org/obo/MP_0002001","label":"blindness"},{"id":"MP:0002063","iri":"http://purl.obolibrary.org/obo/MP_0002063","label":"abnormal learning/memory/conditioning"},{"id":"MP:0002064","iri":"http://purl.obolibrary.org/obo/MP_0002064","label":"seizures"},{"id":"MP:0002065","iri":"http://purl.obolibrary.org/obo/MP_0002065","label":"abnormal fear/anxiety-related behavior"},{"id":"MP:0003158","iri":"http://purl.obolibrary.org/obo/MP_0003158","label":"dysphagia"},{"id":"MP:0003997","iri":"http://purl.obolibrary.org/obo/MP_0003997","label":"tonic-clonic seizures"},{"id":"MP:0005254","iri":"http://purl.obolibrary.org/obo/MP_0005254","label":"strabismus"},{"id":"MP:0005655","iri":"http://purl.obolibrary.org/obo/MP_0005655","label":"increased aggression"},{"id":"MP:0012676","iri":"http://purl.obolibrary.org/obo/MP_0012676","label":"dilated brain ventricle"},{"id":"MP:0013140","iri":"http://purl.obolibrary.org/obo/MP_0013140","label":"excessive vocalization"},{"id":"MP:0014120","iri":"http://purl.obolibrary.org/obo/MP_0014120","label":"focal seizures"},{"id":"UPHENO:0013942","iri":"http://purl.obolibrary.org/obo/UPHENO_0013942","label":"cerebellum atrophy"},{"id":"UPHENO:0014053","iri":"http://purl.obolibrary.org/obo/UPHENO_0014053","label":"brain atrophy"},{"id":"UPHENO:0019200","iri":"http://purl.obolibrary.org/obo/UPHENO_0019200","label":"arrested detection of light stimulus involved in visual perception"},{"id":"UPHENO:0052843","iri":"http://purl.obolibrary.org/obo/UPHENO_0052843","label":"decreased qualitatively memory"},{"id":"UPHENO:0074655","iri":"http://purl.obolibrary.org/obo/UPHENO_0074655","label":"increased pigmentation in ocular fundus"},{"id":"UPHENO:0080262","iri":"http://purl.obolibrary.org/obo/UPHENO_0080262","label":"decreased swallowing"},{"id":"UPHENO:0080275","iri":"http://purl.obolibrary.org/obo/UPHENO_0080275","label":"decreased motor coordination"},{"id":"UPHENO:0082797","iri":"http://purl.obolibrary.org/obo/UPHENO_0082797","label":"increased anxiety-related behavior"},{"id":"UPHENO:0082809","iri":"http://purl.obolibrary.org/obo/UPHENO_0082809","label":"increased aggressive behavior towards humans"},{"id":"UPHENO:0084151","iri":"http://purl.obolibrary.org/obo/UPHENO_0084151","label":"dilated brain ventricle"}]} +{"breeds":[{"name":"Alpine Dachsbracke (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200023"},{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"English Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200495"},{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"},{"name":"Saluki (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201171"}],"characterised":true,"characterised_year":2005,"clinical_features":"Koppang (1992) and Guo et al. (2014) describe the disease in English Setter and Australian Shepherd dogs: From birth to 12-14 months of age, the dog presents as healthy. At 14-18 months, visual impairment and behavioural changes indicative of neurological degeneration, such as decreased responsiveness to voice commands and compulsive circling, develop. These symptoms worsen, leading to blindness, ataxia and eventual loss of motor function in the limbs. Seizures develop at 17-24 months, becoming more frequent and severe until death or euthanasia of the animal which usually occurs before the age of 27 months. IT thanks DVM student Steven Serb, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Neuronal ceroid lipofuscinosis, 8","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010830","iri":"http://purl.obolibrary.org/obo/MONDO_0010830","label":"neuronal ceroid lipofuscinosis 8"}],"name":"","omia_group_id":1506,"omia_phene_id":2977,"omia_record_id":"OMIA:001506-9615","publication_ids":[317,15342,27388,27943,47106,49025,59270,59317,59427,81229,82290,83947,107454,111403,111404,111405,111406,112960,112961,113540,114718,114719,114720,114721,114722,114723,114724,114725,115710,117447,117735,117896,120432,120540,122714,125653,128324,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2977","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Incomplete ossification of the humeral condyle","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1507,"omia_phene_id":2978,"omia_record_id":"OMIA:001507-9615","publication_ids":[109284,109285,109286,109287],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2978","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Boykin Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200214"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"}],"characterised":true,"characterised_year":2010,"clinical_features":"","defect":true,"group_name":"Myotubular myopathy 1","inheritance":{"code":"XLR","name":"X-linked recessive"},"inheritance_text":"Beggs et al. (2010) presented pedigree information that was inconsistent with autosomal recessive inheritance but consistent with X-linked recessive inheritance.","mondo_terms":[{"id":"MONDO:0010683","iri":"http://purl.obolibrary.org/obo/MONDO_0010683","label":"X-linked centronuclear myopathy"}],"name":"","omia_group_id":1508,"omia_phene_id":2979,"omia_record_id":"OMIA:001508-9615","publication_ids":[109289,109297,113208,115869,116286,116878,116879,117515,122449,123347,124970,124971,131008],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2979","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"}],"characterised":true,"characterised_year":2010,"clinical_features":"As reported by Bader et al. (2010), this disorder \"is characterized by short stature, thick, taut skin, and severely restricted joint mobility . . . Affected dogs also have broad skulls with wide-set slanted eyes, creased ears, a hopping, “tip-toe” gait, and pleasant temperaments.\" Additionally, cardiac disease has been reported as possibly associated with Muscladin-Lueke syndrome, but reports are inconsistent (Packer et al., 2017). [IT thanks DVM student Elizabeth Polley for contributions to this entry in April 2022]","defect":true,"group_name":"Geleophysic dysplasia, ADMATSL2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Musladin-Lueke syndrome, Chinese beagle syndrome","omia_group_id":1509,"omia_phene_id":2980,"omia_record_id":"OMIA:001509-9615","publication_ids":[109298,113146,113147,123125,123369,132991],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2980","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Scottish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201198"},{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"},{"name":"West Highland White Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201415"}],"characterised":true,"characterised_year":2015,"clinical_features":"Invasive transitional cell carcinoma usually manifests as a chronic urinary tract infection. The clinical signs are non-specific and include pollakiuria, haematuria, and stranguria commonly in association with other conditions such as urinary tract infection, bladder stones, benign polyps, and cystitis (Thomas et al., 2023). ITCC is usually diagnosed at an advanced stage (invasion of the detrusor muscle), where dogs may experience anuria (mass obstruction/urethral extension) (Thomas et al., 2023). Additionally, survival time can be less than 12 months from the time of diagnosis (Thomas et al., 2023). Gold standard for diagnosis is histopathologic evaluation of tissue biopsies (Thomas et al., 2023). Investigation of associated genes is possible (BRAF V595E + MAP2K1 ) from a urine sample with (droplet digital) PCR, however a negative result does not rule out ITCC (Thomas et al., 2023). IT thanks DVM student Tori Stragliotto, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Transitional cell carcinoma","inheritance":{"code":"SMu","name":"Somatic mutation"},"inheritance_text":"","mondo_terms":[],"name":"Invasive transitional cell carcinoma of the bladder; Canine InvTCC; urothelial carcinomas; transitional cell carcinoma; TCC; invasive urinary carcinoma; iUC","omia_group_id":1512,"omia_phene_id":2984,"omia_record_id":"OMIA:001512-9615","publication_ids":[109310,109311,109312,109313,115936,120065,122416,123115,123950,123951,123952,124660,125612,125897,126489,126490,126609,127380,128003,128157,128158,128159,128361,129895,129909,130057,130140,130300,130633,132374,132545,132565,132607,132872,132947,133442,133556],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2984","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":true,"characterised_year":2008,"clinical_features":"","defect":true,"group_name":"Leukaemia, chronic myelogenous","inheritance":{"code":"SMu","name":"Somatic mutation"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1513,"omia_phene_id":2985,"omia_record_id":"OMIA:001513-9615","publication_ids":[109325,109326,109327],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2985","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":true,"characterised_year":2014,"clinical_features":"Affected animals present with generalised tremors at about 2 to 3 weeks of age (Kornegay et al., 1987; Pemberton et al., 2014). Clinical signs gradually resolve in most dogs by 3 to 4 months of age (Kornegay et al., 1987; Pemberton et al., 2014), \"though some dogs retained a persistent fine tremor of the hind limbs\" (Pemberton et al., 2014). Pemberton et al. (2014) suggest that hyppomyelination previously described in Chow Chow dogs (Vandevelde and Braund, 1981; Vandevelde et al., 1978) is identical to the disease in Weimaraner dogs.","defect":true,"group_name":"Hypomyelination of the central nervous system","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":526,"omia_phene_id":2986,"omia_record_id":"OMIA:000526-9615","publication_ids":[109340,109341,115278,115279,115280,115281,125209,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2986","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"English Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200494"},{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"},{"name":"French Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200548"},{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"},{"name":"Miniature Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200893"}],"characterised":true,"characterised_year":2016,"clinical_features":"As summarised by Plassais et al. (2016): \" Clinical signs appear in young puppies and consist of acral analgesia, with or without sudden intense licking, biting and severe self-mutilation of the feet, whereas proprioception, motor abilities and spinal reflexes remain intact\"","defect":true,"group_name":"Acral mutilation syndrome","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Correard et al. (2017): \"a large pedigree of French spaniels was first drafted; careful analysis of this pedigree revealed a recessive autosomal mode of inheritance, as previously described (Paradis et al. 2005)\"","mondo_terms":[],"name":"hereditary sensory neuropathy","omia_group_id":1514,"omia_phene_id":2987,"omia_record_id":"OMIA:001514-9615","publication_ids":[109342,109343,109344,109345,117440,117442,117443,117444,118991,118993,123125,125653,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2987","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Goldendoodle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200611"},{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"}],"characterised":true,"characterised_year":2011,"clinical_features":"","defect":true,"group_name":"Colorectal hamartomatous polyposis and ganglioneuromatosis","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1515,"omia_phene_id":2988,"omia_record_id":"OMIA:001515-9615","publication_ids":[109346,125864],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2988","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":true,"characterised_year":2010,"clinical_features":"","defect":true,"group_name":"Gastrointestinal stromal tumour","inheritance":{"code":"SMu","name":"Somatic mutation"},"inheritance_text":"","mondo_terms":[],"name":"GIST","omia_group_id":1516,"omia_phene_id":2989,"omia_record_id":"OMIA:001516-9615","publication_ids":[109347,116728,125139,125140,125141,130016],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2989","source_release":"retrieved-2026-09-12","summary":"IT IS IMPORTANT TO NOTE THAT THESE ARE UNDERSTOOD TO BE A SOMATIC MUTATIONS, WHICH MEANS THAT THE VARIANTS ARE NOT INHERITED AND WILL NOT BE PASSED ON TO OFFSPRING.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Retinal dystrophy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":869,"omia_phene_id":2990,"omia_record_id":"OMIA:000869-9615","publication_ids":[109350],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2990","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Retinal atrophy, progressive, X-linked, type 3","inheritance":{"code":"X","name":"X-linked"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1517,"omia_phene_id":2991,"omia_record_id":"OMIA:001517-9615","publication_ids":[109354,122866],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2991","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2002,"clinical_features":"Beltran et al. (2006): \"Abnormal development of photoreceptors was recognizable as early as 3.9 weeks of age. Outer segment (OS) misalignment was followed by their disorganization and fragmentation. Reduction in length and broadening of rod and cone inner segments (IS) was next observed, followed by the focal loss of rod and cone IS at later time points. The proportion of dying photoreceptors peaked at approximately 6 to 7 weeks of age and was significantly reduced after 12 weeks. In addition to rod and cone opsin mislocalization, there was early rod neurite sprouting, retraction of rod bipolar cell dendrites, and increased Müller cell reactivity. Later in the course of the disease, changes were also noted in horizontal cells and amacrine cells.\" As summarised by these authors: \"XLPRA2 is an early-onset model of XLRP that is morphologically characterized by abnormal photoreceptor maturation followed by progressive rod-cone degeneration and early inner retina remodeling. \"","defect":true,"group_name":"Retinal atrophy, progressive, X-linked, type 2","inheritance":{"code":"X","name":"X-linked"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1518,"omia_phene_id":2992,"omia_record_id":"OMIA:001518-9615","publication_ids":[108327,109374,109375,111395,112004,112345,115338,115539,119960,120378,120497,120515,122027,122028,122029,122030,122031,122208,123561,124948,126631,126774,129012,129719,129760,129973,132320],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2992","source_release":"retrieved-2026-09-12","summary":"The difference between XLPRA1 (OMIA:000831-9615) and XLPRA2 (this entry) is summarised by Appelbaum et al. (2020) as \"XLPRA1-affected dogs have normal PR morphogenesis, after which progressive rod–cone degeneration develops in the peripheral retina, gradually advancing toward the optic disc. . . . The phenotype associated with XLPRA2 is very severe and manifests during early retinal development.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Persistent hyaloid remnants","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Persistent hyaloid artery (PHA)","omia_group_id":1519,"omia_phene_id":2993,"omia_record_id":"OMIA:001519-9615","publication_ids":[109355,125219],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2993","source_release":"retrieved-2026-09-12","summary":"Genetics Committee of the American College of Veterinary Opthalmologists (2021): \"congenital defect resulting from abnormalities in the development and regression of the hyaloid artery. The blood vessel remnant can be present in the vitreous as a small patent vascular strand (PHA) or as a non-vascular strand that appears gray-white (persistent hyaloid remnant)\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Glen of Imaal Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200609"}],"characterised":true,"characterised_year":2010,"clinical_features":"Onset of disease has been reported on average at 6 years of age (Kropatsch et al., 2010). Affected dogs develop visual problems (difficulties avoiding obstacles in dim light) and the disease gradually results in total blindness (Goldstein et al., 2010). However, ophthalmoscopical changes can be observed in dogs as young as 3 years of age and can present either as \"subtle but generalized hyperreflectivity of the tapetal fundus, and retinal vascular attenuation\" or \"as a discrete, distinctly hyperreflective lesion, with no accompanying ophthalmoscopic evidence of generalized retinal disease\" (Goldstein et al., 2010). The electroretinogram (ERG) was normal in a 12-weeks-old affected dog. ERG dysfunction was detected at 15 month of age. As the disease progresses ERG changes become more pronounced. Loss of cone function is more severe compared to loss of rod function (Goldstein et al., 2010).","defect":true,"group_name":"Retinal atrophy - Cone-rod dystrophy 3","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Progressive retinal atrophy; PRA-crd3","omia_group_id":1520,"omia_phene_id":2994,"omia_record_id":"OMIA:001520-9615","publication_ids":[109356,109357,112004,125219,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2994","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Portuguese Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201077"},{"name":"Schapendoes (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201181"}],"characterised":true,"characterised_year":2010,"clinical_features":"Lippman et al. (2007): \"gPRA in Schapendoes is characterized by late onset and slow progression ... . Affected Schapendoes dogs appear normal when young, but develop gPRA at an age of onset between 2-5 years. Early in the disease, affected dogs are night-blind, lacking the ability to adjust their vision to dim light; later, their daytime vision also fails. This process of complete photoreceptor degeneration takes up to 2 years.\" Murgiano et al. (2020) describe the clinical signs in Portugese water dogs: \"...visual deficits, including difficulty following moving objects and walking into still objects, which were reportedly worse under dim light, consistent with nyctalopia. These signs became progressively worse, compromising the animals’ vision under both dim and well-lit conditions. The age of onset was determined by the time point at which the visual deficits became noticeable to the owners or when ophthalmoscopic abnormalities were first noted. The male proband and the two affected females had decreased vision per the owner at initial presentation and were diagnosed ophthalmoscopically as EOPRA with an age of onset at 2 years. A second male dog had no obvious visual deficit per the owner at initial presentation at age 2 years and had unremarkable fundus when examined ophthalmoscopically. However, peripapillar changes suggestive of PRA developed by 3 years of age at which time electroretinography (ERG) was recommended but declined. This dog was re-examined at 6 years of age when visual impairment was evident, ERGs were undetectable ..., and ophthalmoscopic changes were consistent with mid-stage disease. The ophthalmoscopic changes observed were common in all affected dogs, characterized by generalized tapetal hyper-reflectivity, diffuse vascular attenuation, optic disc pallor, and multifocal depigmenta-tion of the non-tapetal fundus. .... A feature that was unique to this disease in all affected dogs was a distinct peripapillary ring of hyper-reflectivity or peripapillary conus ..., which progressed into a broader zone of hyper-reflectivity around the optic disc in advanced disease ... .\"","defect":true,"group_name":"Retinal atrophy, progressive, CCDC66-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Generalized PRA (gPRA), early‑onset progressive retinal atrophy","omia_group_id":1521,"omia_phene_id":2995,"omia_record_id":"OMIA:001521-9615","publication_ids":[109358,109359,112004,121069,125219,126404,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2995","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Northern Inuit Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200952"}],"characterised":true,"characterised_year":2010,"clinical_features":"Signs may be noticeable as early as 4 to 6 weeks of age (Carrig et al., 1997; Goldstein et al., 2010). Affected dogs have short-limbed dwarfism and vitreous dysplasia. Associated ophthalmic lesions include retinal detachment and cataracts. The forelimbs are most noticeably affected, particularly the short radius and ulna, which subsequently develop curvature with varus/valgus deformities (Carrig et al., 1997). In pups, the dome of the cranium is often pronounced and there is moderate excessive exotropic strabismus. Some, but not all, carriers have vitreal stands, focal retinal folds or plaques of retinal dysplasia.","defect":true,"group_name":"Oculoskeletal dysplasia 1","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Obligate heterozygotes do not have skeletal lesions but may exhibit mild ocular lesions (Goldstein et al., 2010).","mondo_terms":[],"name":"","omia_group_id":1522,"omia_phene_id":2996,"omia_record_id":"OMIA:001522-9615","publication_ids":[1163,30527,108203,109364,109365,111231,112004,112121,119825,121173,122218,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2996","source_release":"retrieved-2026-09-12","summary":"Oculoskeletal dysplasia 1 (osd1, drd1) is a collagen disorder characterized by short-limbed dwarfism, particularly of the forelimbs, and vitreous dysplasia with associated retinal detachment and cataracts. 
See also OMIA:001523-9615 : Oculoskeletal dysplasia 2","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Samoyed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201174"}],"characterised":true,"characterised_year":2010,"clinical_features":"Signs may be noticeable as early as 4 to 6 weeks of age (Goldstein et al., 2010). Affected dogs have short-limbed dwarfism and vitreous dysplasia. Associated ophthalmic lesions include retinal detachment and cataracts. The forelimbs are most noticeably affected, particularly the short radius and ulna, which subsequently develop curvature with varus/valgus deformities (Meyers et al., 1983). In pups, the dome of the cranium is often pronounced and there is moderate excessive exotropic strabismus. Some, but not all, carriers have vitreal stands, focal retinal folds or plaques of retinal dysplasia (Goldstein et al., 2010).","defect":true,"group_name":"Oculoskeletal dysplasia 2","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Obligate heterozygotes do not have skeletal lesions but may exhibit mild ocular lesions (Goldstein et al., 2010).","mondo_terms":[],"name":"","omia_group_id":1523,"omia_phene_id":2997,"omia_record_id":"OMIA:001523-9615","publication_ids":[109364,109365,110561,111231,112004,112121,122218,126404,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2997","source_release":"retrieved-2026-09-12","summary":"Oculoskeletal dysplasia 2 (osd2, drd2) is a collagen disorder characterized by short-limbed dwarfism, particularly of the forelimbs, and vitreous dysplasia with associated retinal detachment and cataracts. A genetic test is available.
See also OMIA:001522-9615 : Oculoskeletal dysplasia 1","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Cairn Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200267"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Pomeranian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201043"},{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"}],"characterised":false,"characterised_year":2010,"clinical_features":"GBM is an extrahepatic disease characterised by abnormal, intraluminal accumulation of mucus or thickened bile within the gallbladder. GBM commonly predisposes the animal to secondary gallbladder rupture, systemic infection, and extrahepatic biliary duct obstruction. Therefore, serum biochemistry often shows increased liver enzymes (AST, ALT) indicative of liver damage, hyperbilirubinemia, and leucocytosis in haematology. Common non-specific clinical signs include vomiting, lethargy, abdominal pain, anorexia, icterus, tachypnoea, polyuria-polydipsia, pyrexia, diarrhoea, and abdominal distention (Smalle, Cahalane & Köster, 2015). Chronic GBM progressing to ruptured gallbladders often present with more severe clinical signs of marked abdominal pain, jaundice, and pyrexia (Jaffey et al., 2019). [IT thanks DVM student Jonathan Haw Cherng Chee, who provided the basis of this contribution in April 2022]","defect":true,"group_name":"Gallbladder mucoceles","inheritance":null,"inheritance_text":"Mealey et al. (2010) initially proposed a dominant mode of inheritance with incomplete penetrance in Shetland Sheepdogs, based on the incomplete association between a proposed likely causal variant and disease phenotype. The authors acknowledged that further research is required. In a follow up study by Cullen et al. (2014) a multifactorial mode of inheritance as well as non-inherited etiology are discussed.","mondo_terms":[],"name":"","omia_group_id":1524,"omia_phene_id":2998,"omia_record_id":"OMIA:001524-9615","publication_ids":[109371,109372,109373,117196,123300,123301,123302,123303,129470],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:2998","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"}],"characterised":true,"characterised_year":2010,"clinical_features":"Key clinical signs include pyrexia, bleeding diathesis, and dental disease (Hugo & Heading, 2014; Boudreaux et al.,2010). Other signs may include joint effusions (Hugo & Heading, 2014), lameness, and infections, such as pododermatitis, deep pyoderma, and cellulitis (Boudreaux et al., 2010). Bleeding diathesis has been noted to occur following injury or surgery (Boudreaux et al., 2010; Hugo and Heading, 2014). Affected dogs have persistent leukocytosis and neutrophilia (Hugo & Heading, 2014; Boudreaux et al., 2010). Assays of haemostasis may yield variable results, including prolonged buccal mucosal bleeding times, normal coagulation screening assays and vWF antigen concentration, and delayed platelet aggregation and clot retraction (Hugo & Heading, 2014; Boudreaux et al., 2010).\r\nIT thanks DVM student Mulan Zhong, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Leukocyte adhesion deficiency, type III","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013016","iri":"http://purl.obolibrary.org/obo/MONDO_0013016","label":"leukocyte adhesion deficiency 3"}],"name":"","omia_group_id":1525,"omia_phene_id":2999,"omia_record_id":"OMIA:001525-9615","publication_ids":[109382,115976,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:2999","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Priapism","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1166,"omia_phene_id":3006,"omia_record_id":"OMIA:001166-9615","publication_ids":[109450],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3006","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Compulsive disorder","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1530,"omia_phene_id":3007,"omia_record_id":"OMIA:001530-9615","publication_ids":[109476,109477,109478,113807,115961],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3007","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"}],"characterised":true,"characterised_year":2009,"clinical_features":"","defect":false,"group_name":"Furnishings (moustache and eyebrows)","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1531,"omia_phene_id":3008,"omia_record_id":"OMIA:001531-9615","publication_ids":[108791,109183,114090,117501],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3008","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Bichon Frise (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200163"},{"name":"Chesapeake Bay Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200326"},{"name":"Curly Coated Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200397"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"Irish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200704"},{"name":"Lagotto Romagnolo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200804"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"},{"name":"Portuguese Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201077"},{"name":"Spanish Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201280"}],"characterised":true,"characterised_year":2009,"clinical_features":"","defect":false,"group_name":"Curly coat","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":245,"omia_phene_id":3009,"omia_record_id":"OMIA:000245-9615","publication_ids":[108791,112957,117501,118190,118201,120501,121909,123917,125653,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3009","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Heterochromia irides/iridis/iridum","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":468,"omia_phene_id":3013,"omia_record_id":"OMIA:000468-9615","publication_ids":[28393,109521],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3013","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":true,"characterised_year":2004,"clinical_features":"","defect":false,"group_name":"Coat colour, agouti","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":201,"omia_phene_id":3027,"omia_record_id":"OMIA:000201-9615","publication_ids":[107410,109578,109579,109580,110284,110483,112418,112464,113910,119928,120501,120836,121985,121986,122763,122792,123112,123840,123917,124017,125653,125980,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3027","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Coat colour, cream dilution","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1344,"omia_phene_id":3030,"omia_record_id":"OMIA:001344-9615","publication_ids":[108339],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3030","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Eye colour","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":357,"omia_phene_id":3031,"omia_record_id":"OMIA:000357-9615","publication_ids":[109589,126504],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3031","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Old English Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200969"}],"characterised":true,"characterised_year":2011,"clinical_features":"As reported by Merveille et al. (2014), \"Clinical findings were recurrent nasal discharge and cough, pyrexia, leucocytosis, and bronchopneumonia.\"","defect":true,"group_name":"Ciliary dyskinesia, primary, CCDC39-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013434","iri":"http://purl.obolibrary.org/obo/MONDO_0013434","label":"primary ciliary dyskinesia 14"}],"name":"Primary ciliary dyskinesia","omia_group_id":1540,"omia_phene_id":3042,"omia_record_id":"OMIA:001540-9615","publication_ids":[94434,109650,109658,115615],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3042","source_release":"retrieved-2026-09-12","summary":"Several types of primary ciliary dyskinesia exist. See also 'OMIA002206-9615 : Ciliary dyskinesia, primary, NME5-related in Canis lupus familiaris' and 'OMIA000573-9615 : Ciliary dyskinesia, primary, generic in Canis lupus familiaris'. \r\nPreviously, references to case reports of dogs with primary ciliary dyskinesia with unknown genetic cause were listed here, but these have been moved to the generic entry for this disease [3/6/2022].","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"Norwich Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200962"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Dyskinesia, paroxysmal","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"Scottie cramp","omia_group_id":1543,"omia_phene_id":3052,"omia_record_id":"OMIA:001543-9615","publication_ids":[6489,109760,110409,116829,117401,117402,117403,117404,117686,122055,122714,123101,123965,123966,123967,124423,124538,125751,128068,128328,128536,133518],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3052","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":true,"characterised_year":2012,"clinical_features":"","defect":true,"group_name":"Brachycephaly","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1551,"omia_phene_id":3060,"omia_record_id":"OMIA:001551-9615","publication_ids":[109833,109835,110290,113304,114081,114184,115262,115263,115264,116351,116853,117139,117632,120073,120315,120415,120416,120501,121263,121353,122017,122038,122133,122461,123057,123176,123816,123925,124126,124169,124181,124254,124361,124697,124805,125109,125337,125339,125653,125901,125910,126600,126602,126748,126903,126963,127072,127277,127330,127833,127892,128088,128104,128719,129444,129522,129567,129780,130270,130364,130508,130621,130671,130836,130887,132076,132199,132208,132253,132534,133056,133139,133152,133220,133323,133408],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3060","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Chylothorax","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1422,"omia_phene_id":3061,"omia_record_id":"OMIA:001422-9615","publication_ids":[109839,109842,114633,114634,119923],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3061","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"},{"name":"Tibetan Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201353"}],"characterised":true,"characterised_year":2011,"clinical_features":"Behavioral signs usually appear around 4 to 6 years of age (Katz et al., 2005, Katz et al., 2007, Farias et al., 2011). Signs include behavioral changes, cognitive decline, cerebellar ataxia, dementia, seizures, nervousness, aggressiveness, loss of training, hypersensitivity to stimuli, loss of coordination, tremors, retinal degeneration, depressed rod function, some impairment of cone function, moderate visual impairment in low light, but good visual acuity in bright light.","defect":true,"group_name":"Neuronal ceroid lipofuscinosis, 12","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1552,"omia_phene_id":3062,"omia_record_id":"OMIA:001552-9615","publication_ids":[29996,107156,107326,108550,109866,109867,111611,114726,117735,118998,120540,122714,125653,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3062","source_release":"retrieved-2026-09-12","summary":"The neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal storage diseases characterized by intraneuronal accumulation of fluorescent granules and early neuronal death. In the Tibetan terrier, changes in behavior and vision begin at 4-6 years of age. A genetic test is available.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Coton de Tulear (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200389"}],"characterised":true,"characterised_year":2007,"clinical_features":"Signs of cmr include multiple tan-pink subretinal patches in both the tapetal and the non-tapetal fundus along with focal areas of tapetal hyper-reflectivity. The lesions elevate the retina, progressing as the dog ages, to focal areas of retinal degeneration and retinal pigment epithelial hypertrophy and pigmentation (Grahn et al., 1998).","defect":true,"group_name":"Multifocal retinopathy 2","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0700239","iri":"http://purl.obolibrary.org/obo/MONDO_0700239","label":"BEST1-related recessive retinopathy"}],"name":"","omia_group_id":1553,"omia_phene_id":3065,"omia_record_id":"OMIA:001553-9615","publication_ids":[108237,109605,110283,112004,112157,115070,125219,125653,127074,127859,129012,129036,129719,129760,130075,133228],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3065","source_release":"retrieved-2026-09-12","summary":"Canine multifocal retinopathy (cmr) is an ocular disorder characterized by multiple areas of retinal degeneration. The detection of three different mutations in the one gene (BEST1) has led to the naming of three different forms of the disorder (cmr1 [OMIA:001444-9615], cmr2 [OMIA:001553-9615], cmr3 [OMIA:001554-9615]), all of which are very similar clinically. The form of cmr detailed in this entry (cmr2) occurs in the Coton du Tulear breed.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Finnish Lapphund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200523"},{"name":"Lapponian Herder (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200814"}],"characterised":true,"characterised_year":2010,"clinical_features":"Signs of cmr include multiple tan-pink subretinal patches in both the tapetal and the non-tapetal fundus along with focal areas of tapetal hyper-reflectivity. The lesions elevate the retina, progressing as the dog ages, to focal areas of retinal degeneration and retinal pigment epithelial hypertrophy and pigmentation (Grahn et al., 1998).","defect":true,"group_name":"Multifocal retinopathy 3","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0700239","iri":"http://purl.obolibrary.org/obo/MONDO_0700239","label":"BEST1-related recessive retinopathy"}],"name":"","omia_group_id":1554,"omia_phene_id":3066,"omia_record_id":"OMIA:001554-9615","publication_ids":[108237,109605,109893,112004,112157,115070,116893,122029,125219,127074,127859,129012,129036,129719,129760,130075,133228],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3066","source_release":"retrieved-2026-09-12","summary":"Canine multifocal retinopathy (cmr) is an ocular disorder characterized by multiple areas of retinal degeneration. The disorder detailed in this entry (cmr3) has essentially the same cinical signs as the other two forms of cmr (namely cmr1 [OMIA:001444-9615] and cmr2 [OMIA:001553-9615]), but as explained by Zangerl et al. (2010), the nature of the cmr3 mutation suggests a different molecular mechanism.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Niemann-Pick disease, type C1","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009757","iri":"http://purl.obolibrary.org/obo/MONDO_0009757","label":"Niemann-Pick disease, type C1"}],"name":"","omia_group_id":725,"omia_phene_id":3068,"omia_record_id":"OMIA:000725-9615","publication_ids":[109914],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3068","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Chinese Shar-Pei (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200351"}],"characterised":true,"characterised_year":2011,"clinical_features":"Shar-Pei autoinflammatory disease (SPAID) is characterized by five signs of inflammation: familial Shar-Pei fever (FSF), arthritis, vesicular hyaluronosis, otitis and amyloidosis.","defect":true,"group_name":"Periodic Fever Syndrome","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"Hyaluronanosis; familial Shar-Pei fever; hereditary cutaneous hyaluronosis/mucinosis; canine autoinflammatory disease (AID); Shar-Pei autoinflammatory disease (SPAID); Shar-Pei recurrent fever syndrome; swollen hock syndrome","omia_group_id":1561,"omia_phene_id":3076,"omia_record_id":"OMIA:001561-9615","publication_ids":[44684,110034,110035,110036,110397,112198,115074,115075,115996,116429,117583,123125,124494,126596],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3076","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Sebaceous adenitis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1563,"omia_phene_id":3078,"omia_record_id":"OMIA:001563-9615","publication_ids":[110058,110059,110060,110061,110062,110063,110064,110065,110066,110067,110068,110069,110070,110071,110072,114074,118050,132413],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3078","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Greater Swiss Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200631"}],"characterised":true,"characterised_year":2011,"clinical_features":"Flores et al. (2017) report that affected dogs have prolonged buccal mucosal bleeding time, tachycardia, pallor, decreased PCV and peritoneal effusion postoperatively. Boudreaux and Martin (2011) suggest that spontaneous haemorrhage is absent to mild in affected dogs but that excessive (and potentially fatal) bleeding can occur after surgical procedures or trauma. Diagnostic tests such as platelet counts, coagulation screening assays (PT & APTT) and von Willebrand factor antigen activity tests have returned as normal in the reported cases (Boudreaux and Martin, 2011). However, flow cytometric studies have shown that affected dogs’ platelets have a markedly reduced response to ADP (Flores et al., 2017). IT thanks DVM student Emily Pratten, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Bleeding disorder, P2RY12-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0012354","iri":"http://purl.obolibrary.org/obo/MONDO_0012354","label":"platelet-type bleeding disorder 8"}],"name":"ADP response impaired; Postoperative haemorrhage/ hemorrhage, Greater Swiss Mountain dog postoperative haemorrhage","omia_group_id":1564,"omia_phene_id":3079,"omia_record_id":"OMIA:001564-9615","publication_ids":[110111,117675,124355,125653,125867],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3079","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"German Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201454"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Persistent right aortic arch, with subclavian artery and ligamentum arteriosum","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1570,"omia_phene_id":3088,"omia_record_id":"OMIA:001570-9615","publication_ids":[110167,110497],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3088","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":true,"characterised_year":2011,"clinical_features":"","defect":true,"group_name":"Retinal atrophy, progressive, SLC4A3-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Golden Retriever PRA1, Golden Retriever progressive retinal atrophy 1","omia_group_id":1572,"omia_phene_id":3094,"omia_record_id":"OMIA:001572-9615","publication_ids":[110245,112004,123857,125219,126404,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3094","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":true,"characterised_year":2011,"clinical_features":"","defect":true,"group_name":"Leukaemia, chronic monocytic","inheritance":{"code":"SMu","name":"Somatic mutation"},"inheritance_text":"","mondo_terms":[],"name":"Chronic monocytic leukemia","omia_group_id":1573,"omia_phene_id":3095,"omia_record_id":"OMIA:001573-9615","publication_ids":[110253,124551],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3095","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Frisian Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200555"}],"characterised":true,"characterised_year":2011,"clinical_features":"","defect":true,"group_name":"Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0011086","iri":"http://purl.obolibrary.org/obo/MONDO_0011086","label":"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive"}],"name":"","omia_group_id":1574,"omia_phene_id":3096,"omia_record_id":"OMIA:001574-9615","publication_ids":[110286],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3096","source_release":"retrieved-2026-09-12","summary":"See also 'OMIA:000220-9615 : Severe combined immunodeficiency disease, autosomal, PRKDC-related' for severe combined immunodeficiency disease caused by genetic variants in the PRKDC gene.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Schapendoes (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201181"}],"characterised":true,"characterised_year":2011,"clinical_features":"Affected dogs present with visual deficits which progress to complete blindness, as well as progressive anxiety, cognitive and motor degeneration, circling, and incoordination (Katz et al., 2011).","defect":true,"group_name":"Neuronal ceroid lipofuscinosis, 6","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0011144","iri":"http://purl.obolibrary.org/obo/MONDO_0011144","label":"ceroid lipofuscinosis, neuronal, 6A"}],"name":"","omia_group_id":1443,"omia_phene_id":3097,"omia_record_id":"OMIA:001443-9615","publication_ids":[108549,110287,110465,113540,117735,120540,122714,127780,127861,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3097","source_release":"retrieved-2026-09-12","summary":"The neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal storage diseases characterized by intraneuronal accumulation of fluorescent granules and early neuronal death. Dogs with NCL6 have early-onset, progressive disease that results in blindness and premature death. A genetic test is available.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Gordon Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200613"},{"name":"Irish Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200702"},{"name":"Old Danish Pointing Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0000668"},{"name":"Polish Lowland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201035"},{"name":"Polish Tatra Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201037"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Poodle, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201056"},{"name":"Tibetan Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201353"}],"characterised":true,"characterised_year":2013,"clinical_features":"","defect":true,"group_name":"Retinal atrophy - Rod-cone dysplasia 4","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013263","iri":"http://purl.obolibrary.org/obo/MONDO_0013263","label":"retinitis pigmentosa 54"}],"name":"progressive retinal atrophy","omia_group_id":1575,"omia_phene_id":3098,"omia_record_id":"OMIA:001575-9615","publication_ids":[110291,112004,112458,117977,117978,118021,120017,125219,126404,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3098","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Curly Coated Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200397"}],"characterised":true,"characterised_year":2007,"clinical_features":"Affected dogs show increases in ALT, ALP, and CK within the first year of life. By 14 months of age, lethargy, exercise intolerance, and collapse after exercise may become apparent (Gregory et al., 2007). The disease in Curly-Coated Retrievers is mild compared to what was reported in German shepherds (Ceh et al., 1976; Rafiquzzaman et al., 1976) as a severe metabolic derangement that led to death or euthanasia by 15 months of age. This is likely due to a different mutation or genetic background. \r\nYi et al. (2012) provided a detailed clinical account of the disorder in Curly Coat Retrievers, having established a colony that segregates for the causal mutation described above. They summarise their findings as: \" Abnormally high glycogen deposition was found in liver and muscle, and, consistent with liver and muscle damage, high and gradually increasing activity of enzymes including AST, ALT, ALP and CPK were found in serum. In muscle, increased glycogen deposition was accompanied by disruption of the contractile apparatus and fraying of myofibrils. Progressive, age-related liver fibrosis and muscle damage caused by glycogen accumulation were the major features of GSD IIIa in affected dogs.\"","defect":true,"group_name":"Glycogen storage disease IIIa","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009291","iri":"http://purl.obolibrary.org/obo/MONDO_0009291","label":"glycogen storage disease III"}],"name":"","omia_group_id":1577,"omia_phene_id":3100,"omia_record_id":"OMIA:001577-9615","publication_ids":[110313,110318,110320,110453,110454,113705,115470,116384,121122],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3100","source_release":"retrieved-2026-09-12","summary":"Glycogen storage disease IIIa (GSD IIIa) is a disorder of glycogen metabolism characterized by glycogen accumulation in tissue and altered glucose homeostasis. Lethargy, exercise intolerance, and collapse after exercise may become apparent by 14 months of age. Dogs with GSD IIIa are deficient in glycogen debranching enzyme, so instead of breaking down glycogen into glucose, they accumulate abnormal glycogen particles. This mostly happens in liver and muscle, which are the tissues that have the highest levels of glycogen metabolism.\r\nThe mode of inheritance is autosomal recessive. The causative mutation is an adenosine deletion causing premature termination of AGL translation. A test is available to detect the mutation. Parents and siblings of affected dogs should be tested. Breeding of affected animals is not recommended. If a carrier must be bred, it is advised to breed that dog only to a dog that has tested as homozygous normal.\r\n\r\nEdited by John C. Fyfe, D.V.M., Ph.D.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Whippet (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201421"}],"characterised":true,"characterised_year":2007,"clinical_features":"Affected dogs show an unusual amount of muscularity, especially in the neck and legs. They are broad chested and typically don’t conform to the breed standard (slim, long neck, pointed snout) (Mosher et al., 2007). Dogs with a single copy of the mutation show a smaller degree of hypermuscularity are significantly faster than homozygous wild-type whippets (Mosher et al., 2007). Hence, being heterozygous for the mutation is considered performance enhancing. For whippets with a double copy of the mutation, there is little evidence about potential associated health risks. It has been anecdotally reported amongst breeders that affected whippets are otherwise generally healthy and only suffer from occasional muscle cramps and a distinctive overbite (Mosher et al., 2007).\r\nIT thanks DVM student Lucas Anderson, who provided the basis of this contribution in May 2023.","defect":false,"group_name":"Muscular hypertrophy (double muscling)","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013598","iri":"http://purl.obolibrary.org/obo/MONDO_0013598","label":"myostatin-related muscle hypertrophy"}],"name":"Hypermuscularity; gross muscle hypertrophy; 'bully' whippets","omia_group_id":683,"omia_phene_id":3103,"omia_record_id":"OMIA:000683-9615","publication_ids":[110347,110348,110351,118131,121967,123595,124894,130406],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3103","source_release":"retrieved-2026-09-12","summary":"In addition to the occurrence of natural variants for this trait, variants have been created artificially (e.g. Zou et al., 2015): Genetically-modifed organism; GMO.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":true,"characterised_year":1997,"clinical_features":"","defect":false,"group_name":"Deficiency of cytosolic arylamine N-acetylation","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1587,"omia_phene_id":3114,"omia_record_id":"OMIA:001587-9615","publication_ids":[110394],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3114","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2012,"clinical_features":"","defect":true,"group_name":"Ichthyosis, PNPLA1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"This entry was previously called Ichthyosis, Golden Retriever","omia_group_id":1588,"omia_phene_id":3115,"omia_record_id":"OMIA:001588-9615","publication_ids":[108807,112203,112324,112325,112326,112389,116425,116454,116750,116873,122523,122810,123125,123150,123600,125653,129492,132569],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3115","source_release":"retrieved-2026-09-12","summary":"At the time when the causal mutation for this disorder was discovered to be in the PNPLA1 gene in Golden Retrievers, this gene had not been implicated in any human cases of the same disorder nor in any other diseases. Having made the canine discovery, Grall et al. (2012) then sequenced the PNPLA1 gene in human families with affected individuals, and discovered \"one missense and one nonsense mutation in the catalytic domain of human PNPLA1 in six individuals with ARCI from two families\". This is an original way to discover clinically-important human mutations: to start by identifying what appear to be homologous disorders in spontaneous animal models, to identify the causal mutation in the animal model, and then use such knowledge to inform human medicine and also benefit veterinary medicine. (Thanks to Catherine André and Judith Fischer for their suggestions to FN in relation to this and other sections of this page; 27 January 2012)","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Anal furunculosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1589,"omia_phene_id":3116,"omia_record_id":"OMIA:001589-9615","publication_ids":[110398,110399,110400,110401,115523,116737,116738,116739,116740,116741,116742,116743],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3116","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":true,"characterised_year":2003,"clinical_features":"","defect":false,"group_name":"Coat colour, melanistic mask","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1590,"omia_phene_id":3117,"omia_record_id":"OMIA:001590-9615","publication_ids":[109582,112591,118064,121377,122792,123315,123917,124017,125653,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3117","source_release":"retrieved-2026-09-12","summary":"See also: OMIA:001199-9615 : Coat colour, extension in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"}],"characterised":true,"characterised_year":2012,"clinical_features":"Episodic falling syndrome (EFS) in Cavalier King Charles Spaniels is characterised by episodes of ascending hypertonicity affecting the thoracic and pelvic limbs (Gill et al., 2012). Onset of the disease is between 14 weeks and 4 years of age, with varying frequency and severity (Gill et al., 2012). During an episode the dog is ultimately immobilised in a distinctive “deer-stalking” or “praying” position (Gill et al., 2012) and usually recovery of limb function takes 10 minutes (Wright et al., 1987). These episodes can be triggered by exercise, stress, apprehension, or excitement (Herrtage & Palmer, 1983). During exercise, the dogs fall while maintaining consciousness and without cyanosis (Gill et al., 2012). Facial muscle stiffening, stumbling, “bunny-hopping” gait, arching of the back or vocalisation may also be observed (Gill et al., 2012). Dogs present completely normal neurologically between the episodes (Herrtage and Palmer, 1983; Gill et al., 2012). [IT thanks DVM students Kiva Waugh and Samantha Su Yuen Lim, who provided the basis of this contribution in April 2022]","defect":true,"group_name":"Episodic falling, BCAN-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"also called: episodic falling syndrome, episodic hypertonicity, hyperekplexia, muscle hypertonicity, paroxysmal exercise-induced dystonia, dyskinesia","omia_group_id":1592,"omia_phene_id":3119,"omia_record_id":"OMIA:001592-9615","publication_ids":[110409,110437,112200,120017,123341,123342,123343,123344,123965,128068,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3119","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Irish Wolfhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200706"},{"name":"Old English Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200969"},{"name":"Spanish Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201274"}],"characterised":true,"characterised_year":2011,"clinical_features":"Clinical signs begin at birth. Puppies display an involuntary ‘startle response’ characterised by generalised or intermittent extensor rigidity induced by unexpected handling or noise (Gill et al., 2011). Neonatal Irish wolfhounds have been reported to develop cyanosis and pneumonia when feeding due to extended periods of rigidity causing apnoea (Gill et al., 2011). Neonatal Spanish greyhounds were unable to properly walk or stand due to episodes of extensor rigidity. When owners attempted to assists the puppies with walking, their touch induced further extensor rigidity (Murphy et al. ̧ 2019). Neonatal death in hyperekplexic puppies is not uncommon due to the complications of feeding and breathing during hypertonic episodes/startle responses. IT thanks DVM student Emily Ketchum, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Hyperekplexia (Startle disease), SLC6A5-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Gill et al. (2019): \"a rapid genotyping test that revealed heterozygosity for the deletion in the dam and sire and three other siblings, confirming recessive inheritance.\" Murphy et al. (2019): \"Family members were genotyped for the deletion, and findings were consistent with an autosomal recessive inheritance pattern.\"","mondo_terms":[{"id":"MONDO:0013827","iri":"http://purl.obolibrary.org/obo/MONDO_0013827","label":"hyperekplexia 3"}],"name":"","omia_group_id":1594,"omia_phene_id":3122,"omia_record_id":"OMIA:001594-9615","publication_ids":[110436,112087,118731,122714,128324,129646],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3122","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Lagotto Romagnolo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200804"}],"characterised":true,"characterised_year":2011,"clinical_features":"BFJE is characterised by juvenile-onset seizures beginning at five to nine weeks of age and typically spontaneously remit by thirteen weeks of age (Jokinen et al., 2007). Affected puppies exhibit generalised tremor, ataxia and stiffness during seizures and severe cases show neurological signs such as ataxia and hypermetria between epileptic episodes (Jokinen et al., 2007). Seizures can occur at any time of the day and the puppy may or may not be conscious during the episode (Jokinen et al., 2007). Following remission, BFJE-affected puppies often show behavioural abnormalities in adulthood, including increased inattention and excitability (Jokinen et al., 2015). On rare occasions, the patient may experience seizures years after remission, or develop progressive neurological disorders that eventually require euthanasia (Jokinen et al., 2015). BFJE puppies show epileptiform activity on electroencephalogram, both during and in between epileptic episodes.\r\nIT thanks DVM student Tina Gong, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Epilepsy, benign familial juvenile, LGI2-related","inheritance":{"code":"ADIP","name":"Autosomal dominant with incomplete penetrance"},"inheritance_text":"Seppälä et al. (2011): \"BFJE is transmitted in imperfect Mendelian fashion. In the vast majority of cases, 93%, homozygous mutation is required for the disease to manifest. In a minority, 7%, heterozygosity suffices. Conversely, 1.8% of dogs may be resistant to seizing despite homozygous mutation. Finally, we found no dog with homozygous wt genotype at Lgi2 c.1552 that has BFJE.\"","mondo_terms":[],"name":"Benign familial juvenile epilepsy; remitting focal epilepsy; benign juvenile epilepsy syndrome; juvenile epilepsy","omia_group_id":1596,"omia_phene_id":3124,"omia_record_id":"OMIA:001596-9615","publication_ids":[110056,110446,114091,114990,117301,124814,125653,128324,128810],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3124","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Racing performance","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1600,"omia_phene_id":3130,"omia_record_id":"OMIA:001600-9615","publication_ids":[110500,110501],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3130","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Pug (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201089"}],"characterised":true,"characterised_year":2011,"clinical_features":"Flatland et al. (2011): \"An 8-year-old female spayed Pug dog was presented for evaluation of cutaneous lesions occurring secondary to immunosuppressive treatment of presumed immune-mediated thrombocytopenia. Abnormal hematologic findings included persistent thrombocytopenia, macrothrombocytes, and variably shaped, often fusiform, blue cytoplasmic inclusions in neutrophils.\"","defect":true,"group_name":"May-Hegglin anomaly","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1608,"omia_phene_id":3145,"omia_record_id":"OMIA:001608-9615","publication_ids":[110639],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3145","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Braque du Bourbonnais (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200221"},{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"},{"name":"Vizsla (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201389"}],"characterised":true,"characterised_year":2020,"clinical_features":"This is an exfoliating skin disease, with significant scaling and crusting that begin on the face, ears and back. Scaling progresses to involve the entire body. Secondary infections are common. Lesions can be scales, crusts, pustules, papules, erythema, and/or alopecia (Wang et al., 2011, Vroom et al., 1995, Mauldin et al., 2010). Most affected dogs present before 10 months of age, but signs can begin as late as 2.75 years. Dogs that live with this condition for several years may develop lupus nephritis. Many dogs show lameness and a hunched stance due to arthralgia. Dogs can also become infertile, with low sperm counts and abnormal estrous cycles (Wang et al., 2011, Mauldin et al., 2010).","defect":true,"group_name":"Exfoliative cutaneous lupus erythematosus","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Wang et al. (2011) confirmed the autosomal recessive inheritance of this disorder in German shorthair pointers.","mondo_terms":[],"name":"","omia_group_id":1609,"omia_phene_id":3146,"omia_record_id":"OMIA:001609-9615","publication_ids":[37619,63427,110643,110644,110645,117566,118004,120447,120450,123125,125008,128454],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3146","source_release":"retrieved-2026-09-12","summary":"Exfoliative cutaneous lupus erythematosus is characterized by scaling and crusting skin lesions that progress over the entire body. In later stages, the disease may also become systemic with the involvement of additional organs.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypospadias","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1187,"omia_phene_id":3160,"omia_record_id":"OMIA:001187-9615","publication_ids":[110751,119166,121126,127232,133235],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3160","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cyclopia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":249,"omia_phene_id":3202,"omia_record_id":"OMIA:000249-9615","publication_ids":[111206],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3202","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Multiple anomalies","inheritance":{"code":"X","name":"X-linked"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":669,"omia_phene_id":3213,"omia_record_id":"OMIA:000669-9615","publication_ids":[111254,130422,130430],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3213","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Acrodermatitis enteropathica","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0008713","iri":"http://purl.obolibrary.org/obo/MONDO_0008713","label":"acrodermatitis enteropathica"}],"name":"","omia_group_id":593,"omia_phene_id":3214,"omia_record_id":"OMIA:000593-9615","publication_ids":[110072,111282,126075],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3214","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"}],"characterised":true,"characterised_year":2013,"clinical_features":"","defect":true,"group_name":"Centronuclear myopathy 2, BIN1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Inherited myopathy of Great Danes","omia_group_id":1660,"omia_phene_id":3265,"omia_record_id":"OMIA:001660-9615","publication_ids":[111521,111523,111524,111525,111526,114406],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3265","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Otocephaly, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1127,"omia_phene_id":3267,"omia_record_id":"OMIA:001127-9615","publication_ids":[111559,111560,111561,111562],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3267","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201029"},{"name":"Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201211"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Necrosis of digits","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1665,"omia_phene_id":3283,"omia_record_id":"OMIA:001665-9615","publication_ids":[3871,5308,9340,111839,111840],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3283","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Heat tolerance","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1667,"omia_phene_id":3287,"omia_record_id":"OMIA:001667-9615","publication_ids":[111893],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3287","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Sloughi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201242"}],"characterised":true,"characterised_year":2000,"clinical_features":"","defect":true,"group_name":"Retinal atrophy - Rod-cone dysplasia 1a","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1669,"omia_phene_id":3298,"omia_record_id":"OMIA:001669-9615","publication_ids":[112004,112005,125219,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3298","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Norwegian Elkhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200955"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Rod dysplasia","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1670,"omia_phene_id":3299,"omia_record_id":"OMIA:001670-9615","publication_ids":[112004,112016],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3299","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Coton de Tulear (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200389"},{"name":"Tibetan Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201352"}],"characterised":true,"characterised_year":2012,"clinical_features":"Tibetan Spaniels with type 1 primary hyperoxaluria usually present at a young age (from 5 weeks of age) with vomiting, diarrhoea, inappetence, weight loss, poor growth, depression, polydipsia (excessive thirst), polyuria (excessive production of urine) and may have anaemia (Jansen and Arnesen, 1990). The two affected Tibetian Spaniels were emaciated and anaemic at 7- and 9-weeks of age when they were euthanised (Jansen and Arnesen, 1990). Vidgren et al. (2012) report that in Coton de Tulear puppies onset is sudden, starting at an age of 3–4 weeks and resulted in euthanasia within a week.\r\nIT thanks DVM student Jess Hanna, who provided the basis of this contribution in May 2023","defect":true,"group_name":"Hyperoxaluria, primary, type I (Oxalosis I)","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009823","iri":"http://purl.obolibrary.org/obo/MONDO_0009823","label":"primary hyperoxaluria type 1"}],"name":"familial oxalate nephropathy","omia_group_id":1672,"omia_phene_id":3301,"omia_record_id":"OMIA:001672-9615","publication_ids":[112056,112057,112683,132657,133097],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3301","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Staffordshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200055"}],"characterised":true,"characterised_year":2013,"clinical_features":"As reported by Kijas et al. (2004): \"early, severe, and rapidly progressive loss of cone function accompanied by progressive rod loss that is only relatively slower\". Very similar clinical signs were reported by Kijas et al. (2004) in a family of Pit Bull Terriers, but these authors showed that the two disorders are not allelic, and consequently named the other disorder crd2 (see OMIA 001675-9615)","defect":true,"group_name":"Retinal atrophy - Cone-rod dystrophy 1","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1674,"omia_phene_id":3312,"omia_record_id":"OMIA:001674-9615","publication_ids":[111397,112004,114956,124796,125219,126404,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3312","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Pit Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200054"}],"characterised":true,"characterised_year":2013,"clinical_features":"As reported by Kijas et al. (2004): \"early, severe, and rapidly progressive loss of cone function accompanied by progressive rod loss that is only relatively slower\". Very similar clinical signs were reported by Kijas et al. (2004) in a family of American Staffordshire Terriers, but these authors showed that the two disorders are not allelic, and consequently named the other disorder crd1 (see OMIA 001674-9615)","defect":true,"group_name":"Retinal atrophy - Cone-rod dystrophy 2","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1675,"omia_phene_id":3313,"omia_record_id":"OMIA:001675-9615","publication_ids":[111397,112004,114956,116884,121404,123561,124796,125219,126631,126774,129012,129719,129760],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3313","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Achromatopsia (cone degeneration, hemeralopia), GSPT (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1676,"omia_phene_id":3314,"omia_record_id":"OMIA:001676-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3314","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Cattle Dog X","vbo_id":null},{"name":"German Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200574"}],"characterised":true,"characterised_year":2005,"clinical_features":"Herrmann et al. (2021): \"Five of eight puppies in an Australian cattle dog cross-bred litter showed signs of skin fragility. Three were stillborn and one died at one month of age. The two surviving puppies were presented with blistering skin disease and severe respiratory distress.\"
Kiener et al. (2026): \"All three affected puppies shared similar clinical signs, which started ataround 6–8 weeks of age and included complete loss of nails, deep ulcers in the paw pads and oral mucosa, vesicles and ulcers in the inner pinna, ulcers and bullae in the inguinal area andabdomen, and enamel hypoplasia. Two of the puppies also suffered from unilateral non-healing very large cornealulcers. All three affected puppies were euthanized a few weeks after diagnosis due to severe clinical deterioration, loss of appetite, and unmanageable pain.\"","defect":true,"group_name":"Epidermolysis bullosa, junctionalis, LAMA3-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1677,"omia_phene_id":3315,"omia_record_id":"OMIA:001677-9615","publication_ids":[77012,77841,107185,112377,121861,122274,123125,123600,127702,133432],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3315","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"}],"characterised":true,"characterised_year":2012,"clinical_features":"CKCSID presents as a combination of two primary disease processes: Keratoconjunctivitis sicca: Decreased tear production leads to drying of the surface of the eye. Common signs include redness in one or both eyes, with a thick mucoid discharge. Chronic dry eyeball surfaces often predisposes to corneal ulceration and further painful secondary bacterial conjunctivitis (Barnett, 2006). Ichythyosiform dermatosis: Typically presents as a rough and curly coat with possible multifocal alopecia. The epidermis is generally dry, scale-like, and flakes off, particularly around the dorsal spine and lateral flankregion. The abdominal venter may be hyperpigmented, whilst the footpads typically show signs of hyperkeratinization. The nails may present with marked growth abnormalities (Hartley et al., 2012). [IT thanks DVM student Tom Spunar, who provided the basis of this contribution in April 2022]","defect":true,"group_name":"Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Dry eye curly coat syndrome","omia_group_id":1683,"omia_phene_id":3325,"omia_record_id":"OMIA:001683-9615","publication_ids":[112165,112166,112200,112425,118028,120017,123125,123291,125219],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3325","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"Dachshund, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200408"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Inflammatory bowel disease","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"The term 'inflammatory bowel disease' has been used historically to describe canine chronic enteropathy / chronic inflammatory enteropathy (CIE)","omia_group_id":1687,"omia_phene_id":3335,"omia_record_id":"OMIA:001687-9615","publication_ids":[112224,112225,112226,112227,112228,112229,112230,112231,112232,112233,118054,121706,123147,124412,124418,124437,124601,125404,125543,125868,126651,126666,127087,127364,127787,130654,132616,132621,132995,133211],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3335","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hydrops foetalis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":493,"omia_phene_id":3340,"omia_record_id":"OMIA:000493-9615","publication_ids":[8284,111529,127232,127515,129205],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3340","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Recombination rate","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1691,"omia_phene_id":3346,"omia_record_id":"OMIA:001691-9615","publication_ids":[112360,115354,116964,132062],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3346","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Finnish Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200522"}],"characterised":true,"characterised_year":2012,"clinical_features":"\"Neurological examinations on ten affected dogs revealed rapidly progressing generalized cerebellar ataxia, tremors, and failure to thrive. Clinical signs were present by the age of 3 months, and cerebellar shrinkage was detectable through MRI.\" (Kyöstilä et al. (2012)","defect":true,"group_name":"Ataxia, cerebellar, progressive early-onset, SEL1L-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1692,"omia_phene_id":3348,"omia_record_id":"OMIA:001692-9615","publication_ids":[112391,112392,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3348","source_release":"retrieved-2026-09-12","summary":"Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes an ataxia form that is caused by a genetic variant in the SEL1L gene. Phenotypically related ataxias in dogs may also be caused by variants in more than 30 other genes (Cocostîrc et al. 2023; Stee et al. 2023). Thus, locus heterogeneity for this phenotype must be considered.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Poodle, Toy (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201061"},{"name":"Shiba Inu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201220"}],"characterised":true,"characterised_year":2012,"clinical_features":"","defect":true,"group_name":"Gangliosidosis, GM2, type II (Sandhoff or variant 0)","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010006","iri":"http://purl.obolibrary.org/obo/MONDO_0010006","label":"Sandhoff disease"}],"name":"","omia_group_id":1462,"omia_phene_id":3364,"omia_record_id":"OMIA:001462-9615","publication_ids":[101709,107240,110100,110322,112530,115065,116176,116393,116959,117708,118905],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3364","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Lymphoma, non-Hodgkin","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1708,"omia_phene_id":3369,"omia_record_id":"OMIA:001708-9615","publication_ids":[112552,112990,114091,116459,117655,121579,124451,124551],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3369","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"As reported by Hale (1995): \"DEA 1.1 and 1.2 antibody-antigen interactions result in acute hemolytic transfusion reactions.\" \r\nAs reported by Hohenhaus (2004): \"Reports of transfusion reactions mediated by alloantibodies are infrequent in dogs receiving transfusions, perhaps because of the low frequency of naturally occurring clinically significant antibodies, the rarity of second transfusions in dogs, or more likely underreporting. Retrospective studies of blood transfusions in dog report rates of adverse effects of transfusion between 3% and 13%. [Kerl and Hohenhaus, 1993; Callan et al., 1996]. The most immunogenic of the DEA is 1.1. Transfusion of DEA 1.2–positive erythrocytes into a previously sensitized recipient produces widely variable clinical signs depending on how strongly reactive the antibodies are [Swisher and Young, 1961]. An acute hemolytic transfusion reaction has been described because of an alloantibody against DEA 1.1 [Giger et al., 1995]. Three years before the reported reaction, a DEA 1.1–negative dog received an untyped and unmatched ransfusion for treatment of anemia caused by immune hemolysis. During relapse of the immune-mediated hemolytic anemia, the dog received an emergency transfusion of unmatched red blood cells. One hour later, the dog developed fever, hemoglobinemia, and hemoglobinuria. The recipient was DEA 1.1 negative and the donor DEA 1.1 positive, and it was hypothesized the recipient had been sensitized during the previous transfusion. The alloantibody was of the IgG class and had a hemolysin titer of 1:128 and a hemagglutinin titer of 1:16.\" \r\nMore recently, Tocci (2010) reported that \"Currently, DEAs 1.1 and 1.2 are considered important in transfusion medicine. DEA 1.1 is known to be extremely antigenic, and DEA 1.1 negative dogs exposed to DEA 1.1 positive RBCs likely become sensitized and produce an anti–DEA 1.1 alloantibody. Subsequent transfusions of DEA 1.1 positive RBC in the DEA 1.1 negative patient result in an acute hemolytic crisis. Therefore, DEA 1.1 is the antigen routinely determined in patients and donors, and 42% of the canine population is positive.[Hohenhaus, 2004]. An acute hemolytic transfusion reaction (AHTR) has been reported in a DEA 1.1 negative dog, which had developed antibodies to DEA 1.1 from a previous transfusion of DEA 1.1 positive RBC.[Giger et al., 1995]\"","defect":false,"group_name":"Blood group system/dog erythrocyte antigen (DEA) 1","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Symons and Bell (1991) provided convincing family-segregation evidence that the presence of antigen is dominant to its absence, in conformity with our understanding of the biology of blood groups. They also showed a dominance hierarchy of A1 > A2 > A3, meaning that heterozygotes for A1 and A2 exhibit only A1 and heterozygotes for A2 and A3 exhibit only A2. ","mondo_terms":[],"name":"Previously known as Blood Group System A, or canine erythrocyte antigen (CEA) 1 and 2","omia_group_id":1713,"omia_phene_id":3376,"omia_record_id":"OMIA:001713-9615","publication_ids":[32435,58557,80589,109207,109208,109209,112651,112652,112653,112654,112655,112656,112657,112658,113611,113613,113615,113616,113617,113618,113619,113621,117147,117148,117149,117150,117151,117153,120446,120516,121350,122970,124604,129198,130462,131065,131093],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3376","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"Pyrenean Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201113"},{"name":"Staffordshire Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201296"}],"characterised":false,"characterised_year":null,"clinical_features":"A cleft lip is a type of orofacial cleft that can manifest as a facial deformity due to incomplete fusion of the lip, incisive bone and/or the alveolar process (Pankowski et al., 2018) Cleft palates are orofacial clefts that involve a midline defect of the hard and/or soft palate, resulting in a hole between the oral and nasal cavity (Pankowski et al., 2018). These clefts occur during embryonic development as a result of incomplete fusion of oral or facial tissues (Roman et al., 2019). Cleft lips and palates are generally recognised in neonatal puppies via visual examination or observation of sneezing, coughing, gagging or drainage of milk from the nostrils during feeding (Roman et al., 2019). Cleft palates generally have far more clinical significance than cleft lips. While most cleft lips only present cosmetic issues, large cleft lips and cleft palates present severe feeding issues in puppies and can lead to failure to grow, chronic sinus infections and aspiration pneumonia (Roman et al., 2019).\r\nIT thanks DVM student Mathilda Harrop, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Cleft lip and palate","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1714,"omia_phene_id":3379,"omia_record_id":"OMIA:001714-9615","publication_ids":[8311,112745,112746,112749,115561,115562,115566,115567,115568,117705,120073,123356,123357,124819,125849,127232,128341,130002],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3379","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Melanoma, malignant","inheritance":null,"inheritance_text":"Genetic pre-disposition to cancer have been described, suggesting that it is a multifactorial disease. Somatic mutations in the KIT gene have been identified in canine malignant melanomas and such mutations may indicate responsiveness to specific therapeutic interventions. Tani et al. (2021) present such an example of pharmacogenetics, reporting \"a canine case of malignant melanoma that responded to toceranib therapy. KIT encoded by KIT harboring a mutation c.1725_1733del is a potential therapeutic target for toceranib in canine malignant melanoma.\"","mondo_terms":[],"name":"","omia_group_id":1724,"omia_phene_id":3390,"omia_record_id":"OMIA:001724-9615","publication_ids":[112931,112932,112933,114223,118182,121386,121387,121388,121389,121516,122135,122694,124076,124551,124615,124755,124758,125517,126119,126815,127101,127377,127547,127556,127616,127621,127831,127996,128512,128555,128609,129069,129080,129901,130315,130413,130782,131100,131129,132119,132160,132269,132291,132485,132487,132853,133230,133342,133487],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3390","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"}],"characterised":false,"characterised_year":null,"clinical_features":"As reported by Yokoyama et al. (2012): \"the owners of the dogs included in this study estimated the age of onset of hearing loss based upon close observations of behavioral characteristics in working dogs indicating poor hearing (e.g., reduced call distance, poor performance). The average estimated age of onset was 4.3 years (S.E. of 0.5 years), with a range of 1–9 years.\"","defect":true,"group_name":"Deafness, adult-onset","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"Schmutz (2014) provided data from Border Collies consistent with autosomal dominant inheritance, but could not rule out more than one locus being involved.","mondo_terms":[],"name":"","omia_group_id":1727,"omia_phene_id":3393,"omia_record_id":"OMIA:001727-9615","publication_ids":[112945,116332],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3393","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Lumbosacral junction, skeletal morphology and morphometry","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1729,"omia_phene_id":3396,"omia_record_id":"OMIA:001729-9615","publication_ids":[112954],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3396","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Dachshund, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200408"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Lymphoma, generic","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1733,"omia_phene_id":3400,"omia_record_id":"OMIA:001733-9615","publication_ids":[112988,112989,114091,114223,115337,115533,116068,117021,117313,122428,122438,124200,124451,124462,124487,124551,125070,125101,125165,125956,126077,126514,126565,126577,126918,126970,127567,128063,128064,128125,129020,129225,129271,129354,129366,129371,129432,129503,129844,129943,130137,130589,130744,130757,131038,133001],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3400","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"}],"characterised":true,"characterised_year":2013,"clinical_features":"","defect":false,"group_name":"Coat colour, white spotting, KIT-related","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"The white-spotting allele in this family of German Shepherds is autosomal dominant with respect to coat colour and recessive lethal with respect to viability (Wong et al., 2013).","mondo_terms":[],"name":"","omia_group_id":1737,"omia_phene_id":3405,"omia_record_id":"OMIA:001737-9615","publication_ids":[113015,113841],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3405","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"},{"name":"Boston Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200204"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Miniature Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200893"},{"name":"Staffordshire Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201296"}],"characterised":true,"characterised_year":2006,"clinical_features":"Cataract, defined as opacity of the lens, can be hereditary or nonhereditary. Clinical features include change in eye colour, pupil size, alteration in vision. Patients may be less aware of their surroundings due to reduced vision. In severe cataract cases, glaucoma can develop, causing pain and discomfort to the patient. Heritable cataracts are often categorised by marked breed specificity, age of onset, rate of progression, and the degree of bilateral symmetry (Mellersh et al., 2006). Mellersh et al. (2006) \"Primary HC in the Staffordshire Bull Terrier was first reported in the UK in 1976 [Barnett, 1978]. This cataract is bilateral, symmetrical in the two eyes, and progressive until total with resultant blindness [Patterson, 2000]. It is not congenital but appears at a few weeks to months in age, progressing to total by 2 to 3 years of age. The ophthalmoscopic and slit-lamp biomicroscopic appearance is of a central area of opacity with a number of small areas of denser opacity ... , initially with a clear cortex. Progression is bilaterally symmetrical, the cataract becoming mature between 2 and 3 years ... .\" [IT thanks DVM student Stephanie Chan for contributions to this entry in April 2022.]","defect":true,"group_name":"Cataract, early onset, HSF4-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Barnett (1978) reported single-locus autosomal recessive inheritance. The mode of inheritance is reported as 'co-dominant' in Australian shepherds: \"Dogs with one copy of the mutation develop bilateral posterior cataracts and homozygotes develop a nuclear cataract that typically progresses to a mature cataract\" (Genetics Committee of the American College of Veterinary Opthalmologists, 2021).","mondo_terms":[{"id":"MONDO:0007290","iri":"http://purl.obolibrary.org/obo/MONDO_0007290","label":"cataract 5 multiple types"}],"name":"Primary hereditary cataract","omia_group_id":1758,"omia_phene_id":3427,"omia_record_id":"OMIA:001758-9615","publication_ids":[90335,108072,108343,108705,109401,109402,109516,109808,113199,114091,115973,120017,124287,125219,126702,130234],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3427","source_release":"retrieved-2026-09-12","summary":"Other forms of inherited cataract have been been described in other breeds, for examples see 'OMIA:002536-9615 - Cataract, FYCO1-related' and 'OMIA:000168-9615 -Cataract, generic'.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Telomere length","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1761,"omia_phene_id":3433,"omia_record_id":"OMIA:001761-9615","publication_ids":[113339,113340,113341,113342,113343,126290],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3433","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Choanal atresia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1764,"omia_phene_id":3444,"omia_record_id":"OMIA:001764-9615","publication_ids":[113452,113455],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3444","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Scottish Deerhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201195"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Osteochondrodysplasia","inheritance":null,"inheritance_text":"Stevens (1999) provided evidence for autosomal recessive inheritance in Scottish deerhounds.","mondo_terms":[],"name":"Also known as pseudoachondroplastic dysplasia","omia_group_id":1315,"omia_phene_id":3447,"omia_record_id":"OMIA:001315-9615","publication_ids":[1275,111667,111668,111669,113471,113472,113473,113474],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3447","source_release":"retrieved-2026-09-12","summary":"For information on osteochondrodysplasia / pseudoachondroplastic dysplasia due to SLC13A1 variants (in Miniature Poodles) see OMIA 001400-9615 : Chondrodysplasia, SLC13A1-related in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Mammary tumour","inheritance":{"code":"SMu","name":"Somatic mutation"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1777,"omia_phene_id":3462,"omia_record_id":"OMIA:001777-9615","publication_ids":[85564,108363,113609,114223,116654,116720,117085,118174,119241,122402,122831,124010,124070,124115,124211,124282,124464,124466,124495,124551,124668,124746,124867,124929,125017,125335,125414,125438,125717,125823,125991,126048,126114,126264,126286,126421,126500,126529,126530,126533,126660,126803,126988,127060,127083,127120,127529,127532,127563,127816,127826,128438,128516,128610,128662,128864,129001,129063,129092,129100,129365,129387,129425,129450,129548,129639,129664,129776,129784,130491,130820,131182,132152,132295,132341,132380,132498,132688,132689,132703,132905,132907,132922,132942,132973,132979,132983,133159,133218,133355,133366,133390,133468,133535,133558],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3462","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Blood group system/dog erythrocyte antigen (DEA) 3","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"Previously known as Blood Group System B, or canine erythrocyte antigen (CEA) 3","omia_group_id":1779,"omia_phene_id":3464,"omia_record_id":"OMIA:001779-9615","publication_ids":[109207,109208,109209,113614,117153,121350,122970],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3464","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"As reported by Hale (1995): \"A dog possessing DEA 4 and no other antigen is considered a \"universal\" donors.\"","defect":false,"group_name":"Blood group system/dog erythrocyte antigen (DEA) 4","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"Previously known as Blood Group System C, or canine erythrocyte antigen (CEA) 4","omia_group_id":1780,"omia_phene_id":3465,"omia_record_id":"OMIA:001780-9615","publication_ids":[58787,109207,109208,109209,113612,113613,117147,117148,117153,120516,121350,122970,130462],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3465","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Blood group system/dog erythrocyte antigen (DEA) 5","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"Previously known as Blood Group System D, or canine erythrocyte antigen (CEA) 5","omia_group_id":1781,"omia_phene_id":3466,"omia_record_id":"OMIA:001781-9615","publication_ids":[51198,109208,109209,120516,121350,122970],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3466","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Blood group system/dog erythrocyte antigen (DEA) 6","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"Previously known as Blood Group System F, or canine erythrocyte antigen (CEA) 6","omia_group_id":1782,"omia_phene_id":3467,"omia_record_id":"OMIA:001782-9615","publication_ids":[121350,122970],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3467","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Blood group system/dog erythrocyte antigen (DEA) 7","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"Previously known as Blood Group System Tr, or canine erythrocyte antigen (CEA) 7","omia_group_id":1783,"omia_phene_id":3468,"omia_record_id":"OMIA:001783-9615","publication_ids":[34311,58557,109207,109209,113613,117147,117148,117153,121350,122970],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3468","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Blood group system/dog erythrocyte antigen (DEA) 8","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"Previously known as Blood Group System He, or canine erythrocyte antigen (CEA) 8","omia_group_id":1784,"omia_phene_id":3469,"omia_record_id":"OMIA:001784-9615","publication_ids":[113619,121350,122970],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3469","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Blood group system, rhesus","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1785,"omia_phene_id":3470,"omia_record_id":"OMIA:001785-9615","publication_ids":[113613,121350,122970],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3470","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2013,"clinical_features":"The SD2 phenotype is characterized by short legs with normal body length and width. In most cases the forelegs are slightly more affected than the hind legs. The international breed standard calls for shoulder heights of 56 cm–57 cm in male and 54 cm–56 cm in female Labrador Retrievers, respectively. The shoulder height in affected animals is reduced by ~6 cm on average. However, it must be noted that shoulder height is only an imperfect proxy for the SD2 phenotype as shoulder height is a complex trait with significant variance due to genetic and environmental factors. According to breeders' reports SD2-affected dogs are not particurlarly prone to secondary joint degeneration or any other health problems apart from the disproportionate dwarfism.","defect":true,"group_name":"Skeletal dysplasia 2, COL11A2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"SD2 is inherited as a monogenic autosomal recessive trait. However, as this mild form of disproportionate dwarfism is superimposed on the normal variation in height, it is sometimes very difficult to unambiguously determine the phenotype.","mondo_terms":[],"name":"Skeletal dysplasia 2","omia_group_id":1772,"omia_phene_id":3471,"omia_record_id":"OMIA:001772-9615","publication_ids":[113625],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3471","source_release":"retrieved-2026-09-12","summary":"Skeletal dysplasia 2 (SD2) is a mild form of disproportionate dwarfism in Labrador Retrievers. Affected dogs have short legs and their shoulder height is reduced by ~6 cm compared to non-affected dogs.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Komondor (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200779"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"}],"characterised":true,"characterised_year":2013,"clinical_features":"Signs begin around 6 to 12 weeks of age, and include failure to thrive and chronic inappetance. Affected animals also demonstrate neutropenia with hypersegmentation, nonregenerative anemia with anisocytosis and poikilocytosis, megaloblastic changes of the bone marrow, decreased serum Cbl concentrations, methylmalonic aciduria, and homocysteinemia. These animals have normal renal function, but low-molecular weight urinary protein excretion (Fyfe et al., 1991).","defect":true,"group_name":"Intestinal cobalamin (vitamin B12) malabsorption, CUBN-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1786,"omia_phene_id":3472,"omia_record_id":"OMIA:001786-9615","publication_ids":[23124,26273,87396,93465,107091,107815,110306,110447,110448,113706,113888,114306,114316,115049,115402,115424,115662,116840,118660,119921,120419,120973,130739,132624],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3472","source_release":"retrieved-2026-09-12","summary":"Intestinal cobalamin malabsorption is a metabolic disorder characterized by failure to thrive, neutropenia, decreased serum cobalamin (Cbl), and nonregenerative anemia. Other signs include chronic inappetance, megaloblastic changes of the bone marrow, methylmalonic aciduria, and homocysteinemia. This phenotype can be caused by either mutations in the AMN or CUBN genes (locus heterogeneity). See also OMIA:001791-9615. Adapted from the corresponding entry by John Fyfe in [OMIA:000565-9615].","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Giant Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200604"},{"name":"Poodle, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201056"}],"characterised":true,"characterised_year":2013,"clinical_features":"As summarised by Karyadi et al. (2013), SCCD is a \"locally aggressive cancer that causes lytic bone lesions, sometimes with multiple toe recurrence\".","defect":true,"group_name":"Squamous cell carcinoma of the digit","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1787,"omia_phene_id":3473,"omia_record_id":"OMIA:001787-9615","publication_ids":[113630,113631,113632,113633,113634,113635,113636,113637,113638,116051,117347,124285,124286,127618],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3473","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"},{"name":"Leonberger (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200819"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"}],"characterised":true,"characterised_year":2018,"clinical_features":"","defect":true,"group_name":"Leukoencephalomyelopathy, NAPEPLD-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1788,"omia_phene_id":3474,"omia_record_id":"OMIA:001788-9615","publication_ids":[113640,113641,113642,113643,113644,113645,113646,117712,117990,117991,117992,125653,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3474","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Chondrodysplasia, Labrador","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"A segregation analysis conducted by Smit et al. (2011) provided evidence for autosomal recessive inheritance. ","mondo_terms":[],"name":"","omia_group_id":1790,"omia_phene_id":3477,"omia_record_id":"OMIA:001790-9615","publication_ids":[109831],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3477","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Selective ADP deficiency","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1792,"omia_phene_id":3479,"omia_record_id":"OMIA:001792-9615","publication_ids":[113686,125867],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3479","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Niemann-Pick disease, type A","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009756","iri":"http://purl.obolibrary.org/obo/MONDO_0009756","label":"Niemann-Pick disease type A"}],"name":"","omia_group_id":1795,"omia_phene_id":3494,"omia_record_id":"OMIA:001795-9615","publication_ids":[4247],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3494","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Myopathy, congenital, with fibre-type disproportion","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1796,"omia_phene_id":3499,"omia_record_id":"OMIA:001796-9615","publication_ids":[113794],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3499","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Mast cell tumour","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1797,"omia_phene_id":3500,"omia_record_id":"OMIA:001797-9615","publication_ids":[113812,114091,114223,116827,118875,119018,119492,122438,122458,123690,123691,124173,124542,124849,124949,125009,125012,125072,125317,125378,125425,125764,126854,127179,127447,127512,128595,128922,129057,129421,130088,130527,130620,130882,132201,132482,132487,132558,132874,133077,133370],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3500","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Endocardial fibroelastosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1803,"omia_phene_id":3507,"omia_record_id":"OMIA:001803-9615","publication_ids":[113844,113845,113851,113854,113855],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3507","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Cairn Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200267"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ocular melanosis","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"Peterson-Jones et al. (2007) provided evidence of autosomal dominant inheritance in Cairn Terriers.","mondo_terms":[],"name":"","omia_group_id":1804,"omia_phene_id":3510,"omia_record_id":"OMIA:001804-9615","publication_ids":[113861,113862,113863,113864,124396,125219,126878,128276,128664,128665,132800],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3510","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Intestinal cobalamin (vitamin B12) malabsorption, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1791,"omia_phene_id":3511,"omia_record_id":"OMIA:001791-9615","publication_ids":[109400,110305,113887,113889,113890,113891,113892,114249,114845,116036,120419],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3511","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200638"},{"name":"Parson Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200987"},{"name":"Poodle, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201056"}],"characterised":true,"characterised_year":2013,"clinical_features":"For Italian Greyhounds, the clinical signs as reported by Gandolfi et al. (2013) are \"A brownish mottling and roughening of teeth is apparent in areas where enamel is thin or absent . . . . Affected permanent teeth are often small and pointed compared with normal teeth . . . . Greater than normal gaps between teeth are often noticeable in young dogs and become more apparent with age due to premature enamel wear\".","defect":true,"group_name":"Amelogenesis imperfecta, ENAM-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0008770","iri":"http://purl.obolibrary.org/obo/MONDO_0008770","label":"amelogenesis imperfecta type 1C"}],"name":"","omia_group_id":1805,"omia_phene_id":3512,"omia_record_id":"OMIA:001805-9615","publication_ids":[113898,113899,117862,118657,118813,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3512","source_release":"retrieved-2026-09-12","summary":"Also known as Enamel hypoplasia.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"}],"characterised":true,"characterised_year":2021,"clinical_features":"","defect":false,"group_name":"Coat colour, saddle tan vs black-and-tan","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Dreger et al. (2013) provided data that enabled them to conclude that \"it appeared that the black-and-tan pattern is recessive to saddle tan\".","mondo_terms":[],"name":"","omia_group_id":1806,"omia_phene_id":3513,"omia_record_id":"OMIA:001806-9615","publication_ids":[113910,120501,121377,121985,123917],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3513","source_release":"retrieved-2026-09-12","summary":"Dreger et al. (2013) identified a duplication in an intron of the RALY gene encoding hnRNP associated with lethal yellow that discriminated black-and-tan and saddle tan Basset Hounds and Pembroke Welsh Corgis. The RALY gene is located upstream of ASIP and the intronic duplication is in linkage disequilibrium with the likely causal variant in the ventral promoter of ASIP identified by Bannasch et al. (2021). For more detail on the likely causal variant in the ASIP promoter see OMIA 000201-9615 : Coat colour, agouti in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Alopecia areata","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1702,"omia_phene_id":3514,"omia_record_id":"OMIA:001702-9615","publication_ids":[106296,107469,113921,113922,116820,128470,130649],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3514","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"West Highland White Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201415"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pulmonary fibrosis, idiopathic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1417,"omia_phene_id":3519,"omia_record_id":"OMIA:001417-9615","publication_ids":[87817,114005,114006,114007,114008,114009,114011,114013,114014,114015,115027,115269,115408,115511,119031,120763,128191,130992,132261,132321],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3519","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Leishmaniasis, susceptibility/resistance to","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1807,"omia_phene_id":3520,"omia_record_id":"OMIA:001807-9615","publication_ids":[114072,114073,116704,117173,117782,123568,124666],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3520","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Italian Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200713"},{"name":"Poodle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201048"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Multiple autoimmune diseases syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1808,"omia_phene_id":3521,"omia_record_id":"OMIA:001808-9615","publication_ids":[114075,123758],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3521","source_release":"retrieved-2026-09-12","summary":"see also \"OMIA 001179-9615 : Polyglandular autoimmune syndrome, type II in Canis lupus familiaris\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Leg morphology (leg width versus leg length)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1809,"omia_phene_id":3522,"omia_record_id":"OMIA:001809-9615","publication_ids":[114077,114078,114079],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3522","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Ears, folded (drop vs prick)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Floppy ears versus erect ears; drop ears versus prick ears","omia_group_id":319,"omia_phene_id":3523,"omia_record_id":"OMIA:000319-9615","publication_ids":[108432,114081,114090,116423,119334,120501,125979,128265,129522],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3523","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Beta blocker response in heart failure","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1810,"omia_phene_id":3524,"omia_record_id":"OMIA:001810-9615","publication_ids":[114088],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3524","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Tail, curl (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"see OMIA002186-9615 Screw tail","omia_group_id":1811,"omia_phene_id":3525,"omia_record_id":"OMIA:001811-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3525","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Haemangiosarcoma","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1813,"omia_phene_id":3527,"omia_record_id":"OMIA:001813-9615","publication_ids":[114091,114111,114112,114113,114119,114120,114123,114126,114131,114132,114134,114136,114139,114140,114141,114143,114144,114146,114147,114148,114150,114151,114153,114223,114638,114648,114709,114954,115532,116459,116833,117252,121579,121892,122402,124667,124712,125165,125222,125343,125738,125895,126513,126544,126556,129168,129913,130081,132458,132487],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3527","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hydranencephaly","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":486,"omia_phene_id":3536,"omia_record_id":"OMIA:000486-9615","publication_ids":[114168],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3536","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Japanese Chin (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200735"}],"characterised":true,"characterised_year":2013,"clinical_features":"","defect":true,"group_name":"Gangliosidosis, GM2, type I (B variant)","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Gangliosidosis, GM2, type I","omia_group_id":1461,"omia_phene_id":3539,"omia_record_id":"OMIA:001461-9615","publication_ids":[107740,107741,114193,115492,116959],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3539","source_release":"retrieved-2026-09-12","summary":"GM2 gangliosidos is a fatal lysosomal storage disease caused by a deficiency of β-hexosaminidase (EC 3.2.1.52). There are two major isoforms of the enzyme: hexosaminidase A composed of an α and a β subunit (encoded by HEXA and HEXB genes, respectively); and, hexosaminidase B composed of two β subunits. Hexosaminidase A requires an activator protein encoded by GM2A to catabolize GM2 ganglioside, but even in the absence of the activator protein, it can hydrolyze the synthetic substrates commonly used to assess enzyme activity. Mutations in the HEXA gene cause type I (or \"type B\") GM2 gangliosidosis, also called Tay-Sachs disease in humans. In dogs the age of onset is between 1 and 2 years and affected dogs exhibit progressive cerebellar ataxia, altered mental status and vision deficits. The disease is progressive and leads to death or requires euthanasia within a few months.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Parson Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200987"}],"characterised":true,"characterised_year":2013,"clinical_features":"The clinics and pathology of \"hereditary ataxia\" in Jack Russell and Parson Russell Terriers were mostly studied before the different causative variants in CAPN1 (this entry) and KCNJ10 (see the related entry 002089-9615) were identified. It is therefore not fully clear which genetic form of ataxia was investigated in the earlier publications. It is likely that there are even more genetically distinct forms of ataxia present in Russell group terriers. The CAPN1 form of this disease manifests as a slowly progressing pelvic limb incoordination, with an onset usually at 2 to 9 months of age. As the disease progresses a characteristic “dancing” or “prancing” gait is displayed, especially affecting the pelvic limbs. The age at onset of Parson Russell Terrier cases that were used to identify the CAPN1:p.Cys115Tyr variant ranged between 7-12 months. (Forman et al. 2013). The supplementary video S1 in this publication illustrates the clinical phenotype.","defect":true,"group_name":"Ataxia, spinocerebellar, CAPN1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0014827","iri":"http://purl.obolibrary.org/obo/MONDO_0014827","label":"autosomal recessive spastic paraplegia type 76"}],"name":"spinocerebellar ataxia, hereditary ataxia","omia_group_id":1820,"omia_phene_id":3545,"omia_record_id":"OMIA:001820-9615","publication_ids":[6358,26046,44102,107373,114212,115688,115689,115690,115691,117455,117456,118393,120017,125285,126199,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3545","source_release":"retrieved-2026-09-12","summary":"Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes an ataxia form that is caused by a genetic variant in the CAPN1 gene. Phenotypically related ataxias in dogs may also be caused by variants in more than 30 other genes (Cocostîrc et al. 2023; Stee et al. 2023). Thus locus heterogeneity for this phenotype must be considered.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Sapsari (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201177"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pentalogy of Fallot","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1857,"omia_phene_id":3589,"omia_record_id":"OMIA:001857-9615","publication_ids":[114332],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3589","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Affenpinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200003"},{"name":"Brussels Griffon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200241"},{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200765"}],"characterised":false,"characterised_year":null,"clinical_features":"Neurological exams may reveal neuropathic pain, weakness and proprioceptive deficits. Reported signs of neuropathic pain include vocalisation, reduced activity, touch aversion and sleep disturbance (Rusbridge, 2020). This is often seen in dogs with more extreme brachycephaly. Common syringomyelia-specific signs include “phantom scratching, scoliosis and sensory and motor signs” (Rusbridge, 2020). Localisation of the neurological signs are consistent with the syrinx location. However, these are only observed in dogs with large syrinxes ≥ 4mm in transverse width. The signs can be intermittent and are often exacerbated during periods of excitement, stress or tactile stimulus like contact by a neck collar (Hechler and Moore, 2018). [IT thanks DVM student Grace Zheng, who provided the basis of this contribution in April 2022.]","defect":true,"group_name":"Chiari malformation Type I with syringomyelia","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"The disease is also called Arnold Chiari malformation; caudal occipital \r\nmalformation syndrome; occipital hypoplasia; hindbrain \r\nherniation; Chiari-like malformation","omia_group_id":1861,"omia_phene_id":3597,"omia_record_id":"OMIA:001861-9615","publication_ids":[90730,108517,108521,108522,108529,108952,108953,108956,112448,114362,114363,114364,114365,114366,114367,114368,114619,115582,115583,116430,116431,116432,116433,116434,116435,116436,116919,117485,117518,118022,118095,118899,120797,120798,123330,123331,123332,123333,123334,125077,125580,126138,126593,126901,126924,127023,128231,129229,129444,129821,129824,129867,130394,130701,132635,133173,133318,133357],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3597","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Medial coronoid disease","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"see also 'OMIA 001167-9615 : Fragmented coronoid process in Canis lupus familiaris'","omia_group_id":1863,"omia_phene_id":3599,"omia_record_id":"OMIA:001863-9615","publication_ids":[114407,114687],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3599","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Gordon Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200613"}],"characterised":false,"characterised_year":null,"clinical_features":"Yaeger et al. (2000) summarised the diagnostic criteria as:\r\n\"a) early age of onset (3–4 weeks of age),\r\nb) characteristic clinical signs (pups exhibit crooked necks and carry heads low, stiffened posture, and staggering gait; appear blind; begin to cry, often incessantly; lose muscle tone and the ability to stand),\r\nc) progression to recumbency by 5–6 weeks of age,\r\nd) multiple pups generally affected in each litter, \r\ne) identification of swollen astrocytes primarily in the cerebellar and cerebrocortical white matter and white matter tracts of the brainstem,\r\nf) identification of increased numbers of GFAP-stained astrocyte cytoplasmic processes (this lesion is most readily visualized in the cortical white matter and granular layer of the cerebellum), and\r\ng) exclusion of other disease processes.\"","defect":true,"group_name":"Neurological syndrome","inheritance":{"code":"RL","name":"Autosomal recessive lethal"},"inheritance_text":"Yaeger et al. (2000) provided convincing evidence of autosomal recessive inheritance.","mondo_terms":[],"name":"","omia_group_id":720,"omia_phene_id":3601,"omia_record_id":"OMIA:000720-9615","publication_ids":[114452],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3601","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Chesapeake Bay Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200326"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":true,"characterised_year":2012,"clinical_features":"As reported by Olivry et al. (2012), \"In all affected dogs, clinical signs occurred immediately after birth with spontaneous sloughing of the nose and footpad epithelium and bleeding of the ear tips if traumatized. Within 48 hours of birth, the lips and facial superficial skin layers also sloughed when rubbed dry or licked by the mother. Three dogs were kept alive by their breeder for three months; all exhibited waxing and waning superficial skin sloughing with erosions and fissures at areas of friction (axillae, groin, caudal tarsi, footpads), concave ear pinnae and mucocutaneous junctions (nasal planum, philtrum, lips, periocular area)\".","defect":true,"group_name":"Ectodermal dysplasia/skin fragility syndrome, PKP1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"The results of a pedigree analysis conducted by Olivry et al. (2012) were \"most consistent with an autosomal recessive mode of inheritance\".","mondo_terms":[{"id":"MONDO:0011472","iri":"http://purl.obolibrary.org/obo/MONDO_0011472","label":"epidermolysis bullosa simplex due to plakophilin deficiency"}],"name":"","omia_group_id":1864,"omia_phene_id":3603,"omia_record_id":"OMIA:001864-9615","publication_ids":[114552,123125],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3603","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"White Swiss Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201423"}],"characterised":true,"characterised_year":2023,"clinical_features":"Littlejohn et al. (2023): Two affected White Swiss Shepherd \"puppies were born clinically normal ... . Both [cerebellar hypoplasia] CH-affected puppies failed to gain weight and developed progressive ataxia from around 2 weeks of age. The puppies had difficulty standing, could not walk in a straight line, had a good suckle reflex but had difficulty latching on to the teat. The puppies had no spontaneous or positional nystagmus, had a normal pupillary light reflex, lacked a menace reflex (normal for age) and segmental spinal reflexes were intact. ... the puppies were euthanised at 4 weeks of age ... .\"","defect":true,"group_name":"Lissencephaly and cerebellar hypoplasia, RELN-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009760","iri":"http://purl.obolibrary.org/obo/MONDO_0009760","label":"Norman-Roberts syndrome"}],"name":"Cerebellar hypoplasia","omia_group_id":1867,"omia_phene_id":3610,"omia_record_id":"OMIA:001867-9615","publication_ids":[125273,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3610","source_release":"retrieved-2026-09-12","summary":"References to other forms of lissencephaly were previously listed here but have been moved to OMIA:002771-9615 : Lissencephaly, generic in Canis lupus familiaris [22/09/2023]","taxon_id":9615,"upheno_terms":[{"id":"HP:0001339","iri":"http://purl.obolibrary.org/obo/HP_0001339","label":"Lissencephaly"},{"id":"MP:0000825","iri":"http://purl.obolibrary.org/obo/MP_0000825","label":"dilated lateral ventricle"},{"id":"MP:0000829","iri":"http://purl.obolibrary.org/obo/MP_0000829","label":"dilated fourth ventricle"},{"id":"MP:0001393","iri":"http://purl.obolibrary.org/obo/MP_0001393","label":"ataxia"},{"id":"MP:0001436","iri":"http://purl.obolibrary.org/obo/MP_0001436","label":"abnormal suckling behavior"},{"id":"MP:0002083","iri":"http://purl.obolibrary.org/obo/MP_0002083","label":"premature death"},{"id":"MP:0004845","iri":"http://purl.obolibrary.org/obo/MP_0004845","label":"absent vestibuloocular reflex"},{"id":"MP:0008489","iri":"http://purl.obolibrary.org/obo/MP_0008489","label":"slow postnatal weight gain"},{"id":"MP:0020829","iri":"http://purl.obolibrary.org/obo/MP_0020829","label":"abnormal forebrain tissue architecture"},{"id":"UPHENO:0081099","iri":"http://purl.obolibrary.org/obo/UPHENO_0081099","label":"cerebellum hypoplasia"}]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Stenosis, spinal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":947,"omia_phene_id":3616,"omia_record_id":"OMIA:000947-9615","publication_ids":[114669],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3616","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Norwegian Elkhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200955"}],"characterised":true,"characterised_year":2011,"clinical_features":"","defect":true,"group_name":"Glaucoma, primary open angle, ADAMTS10-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"From a colony of Beagles with POAG, established in 1972 (Gelatt, 1972; Gelatt et al., 1977), Gelatt and Gum (1981) provided substantial evidence of autosomal recessive inheritance.","mondo_terms":[],"name":"Primary open angle glaucoma","omia_group_id":1870,"omia_phene_id":3628,"omia_record_id":"OMIA:001870-9615","publication_ids":[2159,3204,56158,108362,109395,113364,113860,113865,113869,113882,113883,116664,116665,116667,116789,116821,117009,118018,124295,125215,125216,125217,125218,125219,125250,125653,126598,127712,127792,129268],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3628","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200038"},{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Dandie Dinmont Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200429"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Glaucoma, primary closed-angle","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1871,"omia_phene_id":3629,"omia_record_id":"OMIA:001871-9615","publication_ids":[114736,114927,116023,116024,116665,116789,117009,119969,122526,122993,123810,123851,125219,130093,132328,132451],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3629","source_release":"retrieved-2026-09-12","summary":"This disorder in Dandie Dinmont Terriers was first described by Ahonen et al. (2013). Several studies investigated the condition in Basset Hounds (Ahram et al.,2014, 2015; Oliver et al., 2019). Park et al. (2022) reported that \"the American Cocker Spaniel (ACS) is among the most common breeds observed with PACG [primary angle closure glaucoma] development in dogs.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Nederlandse Kooikerhondje (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200932"},{"name":"Vizsla (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201389"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Polymyositis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1874,"omia_phene_id":3634,"omia_record_id":"OMIA:001874-9615","publication_ids":[114843,124915,128354,129011,130164],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3634","source_release":"retrieved-2026-09-12","summary":"Opmeer et al. (2025): \"Polymyositis in the breed of ... Kooiker dogs is an autoimmune mediated inflammatory disease of skeletal muscles [with familial occurence].\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Basenji (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200120"}],"characterised":true,"characterised_year":2013,"clinical_features":"While there are multiple types of progressive retinal atrophy (PRA), Basenjis generally obtain late onset PRA (Goldstein et al., 2013). Initially, affected individuals lose their vision in dim light and lose their peripheral visual field, resulting in tunnel vision. Many individuals can maintain forward day vision for years as disease progresses (Goldstein et al., 2013). Retinal thinning (stage I) can typically be detected at five years old, and reduced blood flow through retinal vasculature (stage II) is normally detected around seven years of age (Goldstein et al., 2013). IT thanks DVM student Maya Yaffe, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Retinal atrophy, progressive, SAG-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"The mating results of Goldstein et al. (2006) suggested autosomal recessive inheritance.","mondo_terms":[],"name":"","omia_group_id":1876,"omia_phene_id":3638,"omia_record_id":"OMIA:001876-9615","publication_ids":[111396,114880,125219,125259,126404,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3638","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"}],"characterised":false,"characterised_year":null,"clinical_features":"Rosser (2006): \"The most common lesion initially observed in cases of GSP is clinically similar to that of a “hot spot” and is usually first noticed in the lumbosacral region, lateral hip, or lateral thigh region ... . As the disease progresses, several additional lesions may be observed, including areas of posttraumatic alopecia, hyperpigmentation, papules, pustules, hemorrhagic bullae, ulcers, crusts, and draining tracts (usually with a hemopurulent discharge) with surrounding friable tissue. The disease ultimately takes on the appearance of chronic deep pyoderma or cellulitis, and there is frequently an associated regional lymphadenopathy. Less commonly observed clinical signs may include a purulent otitis externa, perianal fistulas, focal metatarsal fistulas (sterile pedal panniculitis), and fever with signs of systemic illness [Denerolle et al., 1998; Rosser 1997; Ihrke & DeManuelle, 1999].\"","defect":true,"group_name":"Pyoderma","inheritance":null,"inheritance_text":"Wisselink et al. (1989) presented pedigree data and claimed autosomal recessive inheritance, but did not actually conduct a segregation analysis. \r\nRosser (2006): \"Although dogs with GSP may have clinically similar presentations, the underlying causes of the disease process can be multifactorial in etiology. ... [P]urebred German Shepherd Dogs are predisposed to the development of this disease, but it is important to note that a similar condition may occur in German Shepherd crossbred dogs and other herding breeds of dogs ...\"","mondo_terms":[],"name":"German Shepherd dog pyoderma","omia_group_id":1877,"omia_phene_id":3639,"omia_record_id":"OMIA:001877-9615","publication_ids":[114881,114882,114883,114884,114885,114886,114887,114888,114889,114890,114891,115421,122645,123274,123275,123276,123277,123278,124403,129963],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3639","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"}],"characterised":true,"characterised_year":2013,"clinical_features":"As summarised by Brons et al. (2013), cystinuria type II - A is characterised by: present in males and females; not androgen-dependent; COLA [μmol/g creatinine (normal ≤500)] ≥8,000 in homozygotes and ≥3,000 in heterozygotes.","defect":true,"group_name":"Cystinuria, type II - A","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"Brons et al. (2013) provided evidence consistent with autosomal dominant inheritance.","mondo_terms":[],"name":"Cystine urolithiasis","omia_group_id":1879,"omia_phene_id":3641,"omia_record_id":"OMIA:001879-9615","publication_ids":[114893,123132,123322,129822],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3641","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Miniature Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200893"}],"characterised":true,"characterised_year":2013,"clinical_features":"As summarised by Brons et al. (2013), cystinuria type II - B is characterised by: occurs in males and females; not androgen-dependent; COLA [μmol/g creatinine (normal ≤500)] ≥ 700 in heterozygotes.","defect":true,"group_name":"Cystinuria, type II - B","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"Brons et al. (2013) provided evidence consistent with autosomal dominant inheritance.","mondo_terms":[],"name":"Cystine urolithiasis","omia_group_id":1880,"omia_phene_id":3642,"omia_record_id":"OMIA:001880-9615","publication_ids":[110471,114893,123132,123322,124480,124481,129822],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3642","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Irish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200704"},{"name":"Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200867"},{"name":"Scottish Deerhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201195"}],"characterised":false,"characterised_year":null,"clinical_features":"As summarised by Brons et al. (2013) cystinuria type III is characterised by: present only in males; androgen-dependent; COLA [μmol/g creatinine (normal ≤500)] ≤4,000 in homozygotes.","defect":true,"group_name":"Cystinuria, type III","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Cystine urolithiasis","omia_group_id":1881,"omia_phene_id":3643,"omia_record_id":"OMIA:001881-9615","publication_ids":[85144,114893,123132,123322,129822],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3643","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Attention deficit hyperactivity disorder","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Activity, impulsivity and inattention","omia_group_id":1882,"omia_phene_id":3647,"omia_record_id":"OMIA:001882-9615","publication_ids":[114243,114906,114907,114908,114909],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3647","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Chinook (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200353"},{"name":"Karelian Bear Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200754"},{"name":"Norwegian Elkhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200955"}],"characterised":true,"characterised_year":2013,"clinical_features":"As reported by Bingel and Sande (1982): \"Radiographic changes included flaring and increased width of the distal metaphyses of the radius and ulna, delayed ossification of the cuboid bones of the carpus, and reduction in length of the vertebral bodies. The zone of chondrocyte proliferation was decreased in width and contained areas of abnormal cell column formation alternated with wide areas of matrix. Chondrocytes in all zones contained one or more inclusions bounded by a smooth discontinuous membrane. The material within the inclusions appeared homogeneous and stained blue-green with Movat's pentachrome and deep blue with alcian blue-periodic acid-Schiff at pH 1.0 and 2.6. The distribution of ruthenium red granules in the matrix frequently revealed poor differentiation into territorial and interterritorial zones\".","defect":true,"group_name":"Chondrodysplasia, disproportionate short-limbed, ITGA10-related'","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Kyöstilä et al. (2013) provided strong evidence of autosomal recessive inheritance.","mondo_terms":[],"name":"","omia_group_id":1886,"omia_phene_id":3653,"omia_record_id":"OMIA:001886-9615","publication_ids":[4589,115012,116893,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3653","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Entlebucher Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200503"}],"characterised":false,"characterised_year":null,"clinical_features":"Ectopic ureter (EU) is a congenital malformation where one or both ureters enter the bladder in an abnormal anatomical position, outside of the trigone area. The ureters enter on the bladder neck, urethra, uterus or vagina (Reichler et al., 2012). Ectopic ureters can be classified in intramural and extramural, depending on if they bypass the bladder or not. The extramural EU bypasses the bladder completely and opens into the possible abnormal anatomical structures, while the intramural enters the bladder wall in the correct anatomic position (trigone area) but extends within the bladder to then open into an abnormal position. Urinary incontinence is the most common clinical sign of EU and affected dogs often present at a very young age (Koie et al., 2000), with males also commonly showing signs of urinary incontinence at a more advanced age (Holt and Moore, 1995). Diagnosis of EU is best achieved by different imaging methods such as intravenous urography and ultrasonography (Lamb and Gregory, 1998; Koie et al., 2000; Taylor et al., 2022). Treatment involves surgical reposition of ectopic ureter into the bladder and medication for incontinence when needed (Koie et al., 2000). [IT thanks DVM student Ginady Martinez Casiano, who provided the basis of this contribution in April 2022]","defect":true,"group_name":"Ectopic ureter","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"From records of 1611 Entlebucher Mountain Dogs, Fritsche et al. (2013) estimated heritability of this disorder to be 65%, with some evidence of involvement of a gene of large effect.","mondo_terms":[],"name":"","omia_group_id":1891,"omia_phene_id":3660,"omia_record_id":"OMIA:001891-9615","publication_ids":[115197,115198,115199,115200,115201,115202,115203,115204,115205,115206,115207,115209,115210,115211,115212,115213,115214,115215,115216,115217,115218,115219,115220,115221,115222,115223,115224,115225,115226,115227,115228,115229,115520,115975,118188,123376,123377,123378,123379,123380,123381,123382,123383,123384,123385,123386,123417,129529],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3660","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"XY difference of sexual development, generic","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0020040","iri":"http://purl.obolibrary.org/obo/MONDO_0020040","label":"46,XY disorder of sex development"}],"name":"","omia_group_id":1601,"omia_phene_id":3662,"omia_record_id":"OMIA:001601-9615","publication_ids":[110751,115239,119166,119912,122464,122638,123311,125935,129245],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3662","source_release":"retrieved-2026-09-12","summary":"Information relating to differences in sexual development due to variants in the HSD17B3 previously listed here have been moved to OMIA:002777-9615 : XY difference of sexual development, HSD17B3-related in Canis lupus familiaris [28/09/2023].","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Norwich Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200962"}],"characterised":true,"characterised_year":2019,"clinical_features":"Norwich terriers with upper airway obstructive syndrome have normal nasal passages and nostrils. Affected dogs main anatomical abnormalities consisted of mildly elongated soft palates, additional dorsal pharyngeal tissue with elimination of piriform recesses, abnormal laryngeal mucosa, abnormal cuneiform and or corniculate processes, partially or full everted ventricles (saccules) and abnormal keyhole shape to the lower larynx. These changes manifest as respiratory signs of varying severities. Mildly affected dogs have owner reports of intermitted stridor (snoring) or stertor (wheezing). Dogs which are severely affected have been reported to experience severe respiratory distress, collapse and asphyxiation. (Johnson et al., 2013; Marchant et al., 2019)\r\nIT thanks DVM student Amy Garber, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Upper airway syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"upper airway obstructive syndrome; upper respiratory tract (URT) disorder","omia_group_id":1893,"omia_phene_id":3665,"omia_record_id":"OMIA:001893-9615","publication_ids":[115246,119190,125036,125109],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3665","source_release":"retrieved-2026-09-12","summary":"For upper airway obstructive syndrome in brachycephalic dog breeds see also: OMIA:000145-9615 : Brachycephalic obstructive airway syndrome in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Borzoi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200197"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"},{"name":"Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200867"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cervical vertebral compressive myelopathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Cervical spondylomyelopathy; wobbler syndrome","omia_group_id":1894,"omia_phene_id":3671,"omia_record_id":"OMIA:001894-9615","publication_ids":[3071,8560,20130,32370,35016,48058,51296,51492,54525,58132,64304,80463,88382,90644,100527,109660,109679,115885,125165,127162,127287,128012],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3671","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Gordon Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200613"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Old English Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200969"}],"characterised":true,"characterised_year":2014,"clinical_features":"\"The clinical phenotype is identical in both breeds [Old English Sheepdogs and Gordon Setters] with an onset of cerebellar ataxia first noted in juvenile to young adult dogs aged from six months to four years. Dogs develop pronounced hypermetria, a truncal sway and intention tremor, and signs progress to cause severe gait disturbances. Cerebellar atrophy can be identified by magnetic resonance imaging (MRI)\" (Agler et al. 2014)
Schwarz et al. (2025) reported two affected mixed breed dogs \"with clinical signs of progressive cerebellar ataxia, hypermetria, and absent menace response. The MRI revealed generalized brain atrophy, reduced cortical demarcation, hypoplastic corpus callosum, and cerebellar folia thinning ... .\"","defect":true,"group_name":"Ataxia, cerebellar, juvenile to adolescent, RAB24-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Canine hereditary ataxia","omia_group_id":1913,"omia_phene_id":3699,"omia_record_id":"OMIA:001913-9615","publication_ids":[1588,1833,93880,115473,115474,115475,125285,128324,130565],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3699","source_release":"retrieved-2026-09-12","summary":"Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes an ataxia form that is caused by a genetic variant in the RAB24 gene. Phenotypically related ataxias in dogs may also be caused by variants in more than 30 other genes (Cocostîrc et al. 2023; Stee et al. 2023). Thus locus heterogeneity for this phenotype must be considered.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Muscular dystrophy, Becker type","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010311","iri":"http://purl.obolibrary.org/obo/MONDO_0010311","label":"Becker muscular dystrophy"}],"name":"","omia_group_id":1888,"omia_phene_id":3701,"omia_record_id":"OMIA:001888-9615","publication_ids":[115544],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3701","source_release":"retrieved-2026-09-12","summary":"All likely causal variants for X-linked muscular dystrophy due to variants in the DMD gene are listed under OMIA:001081-9615 : Muscular dystrophy, Duchenne type in Canis lupus familiaris (dog).","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Bull Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200253"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"Lhasa Apso (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200824"},{"name":"Pekingese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200994"},{"name":"Pomeranian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201043"}],"characterised":true,"characterised_year":2014,"clinical_features":"Dogs with oculocutaneous albinism type IV have white (cream) coat coloration, blue eyes (iris), pink nose and lips, hypopigmented adnexal structures (eyelid margins, nictitating membrane margins, and cilia), and hypopigmented retinal pigment epithelium and choroid (Winkler et al., 2014). Dogs may also present with photophobia and vision defects (Winkler et al., 2014). Additionally, exposure of the hypopigmented skin to ultraviolet radiation may result in cutaneous melanocytic neoplasms and/or ocular masses (Caduff et al., 2017; Winkler et al., 2014). IT thanks DVM student Arpan Mann, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Coat colour, albinism, oculocutaneous type IV","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"As reported by Winkler et al. (2014), \"A research study conducted by the DPCA [Doberman Pincher Club of America] concluded an autosomal recessive mode of inheritance (http://dpca.org/BreedEd/index.php/articles/44-history/381-albinism-science)\".","mondo_terms":[{"id":"MONDO:0011683","iri":"http://purl.obolibrary.org/obo/MONDO_0011683","label":"oculocutaneous albinism type 4"}],"name":"White Doberman Pinscher","omia_group_id":1821,"omia_phene_id":3703,"omia_record_id":"OMIA:001821-9615","publication_ids":[115554,115921,117706,122792,123125,124017,125165,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3703","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Leonberger (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200819"},{"name":"Saint Bernard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201160"}],"characterised":true,"characterised_year":2014,"clinical_features":"As summarised by Ekenstedt et al. (2014), this disorder in the Leonberger breed \"is characterized by generalized weakness, hypotonia, and muscle atrophy secondary to denervation, particularly of the pelvic limbs . . . . Affected dogs frequently present with a high-stepping pelvic limb gait (pseudo-hypermetria of the hock) . . . , decreased or absent tendon reflexes, and changes associated with degeneration of the recurrent laryngeal nerve, including inspiratory stridor resulting from laryngeal paralysis. The age-of-onset of clinical signs can vary from <1 year up to 11 years of age; however, the juvenile-onset patients typically have a more severe and rapidly progressing course of disease. Peroneal nerve biopsies show decreased myelinated fiber density resulting from axonal degeneration and endoneurial fibrosis indicative of chronic nerve fiber loss. Cranial tibial muscle biopsies demonstrate neurogenic atrophy and fatty replacement of muscle fibers indicative of chronic denervation\".","defect":true,"group_name":"Polyneuropathy, ARHGEF10-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"polyneuropathy","omia_group_id":1917,"omia_phene_id":3705,"omia_record_id":"OMIA:001917-9615","publication_ids":[104113,109480,115770,115771,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3705","source_release":"retrieved-2026-09-12","summary":"An inherited polyneuropathy (PN) observed in Leonberger and Saint Bernard dogs has clinical similarities to a genetically heterogeneous group of peripheral neuropathies termed Charcot-Marie-Tooth (CMT) disease in humans. The disorder is a severe, juvenile-onset, chronic, progressive, and mixed PN, characterized by exercise intolerance, gait abnormalities and muscle atrophy of the pelvic limbs, as well as inspiratory stridor and dyspnea.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"English Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200496"},{"name":"Tibetan Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201352"},{"name":"Tibetan Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201353"}],"characterised":true,"characterised_year":2014,"clinical_features":"","defect":true,"group_name":"Retinal atrophy, progressive, FAM161A-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Bjerkas and Narfstrom (1994) reported data supporting autosomal recessive inheritance.","mondo_terms":[{"id":"MONDO:0011630","iri":"http://purl.obolibrary.org/obo/MONDO_0011630","label":"retinitis pigmentosa 28"}],"name":"Progressive retinal atrophy 3, PRA3 (Tibetan Terrier); Progressive retinal atrophy 6, PRA6 (English Shepherd)","omia_group_id":1918,"omia_phene_id":3706,"omia_record_id":"OMIA:001918-9615","publication_ids":[7814,47764,108335,115558,115559,116380,127921,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3706","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Nova Scotia Duck Tolling Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200964"}],"characterised":true,"characterised_year":2014,"clinical_features":"As reported by Wolf et al. (2014), this syndrome is best summarised as \"relative mandibular brachygnathia and cleft palate\". As detailed by the same authors, in the syndrome specified as CP1 \"clefts were characterized by abnormal or missing palatine fissures, missing or small palatine processes of the maxilla, and small, missing, or abnormally shaped palatine bones . . . The nasal septum was absent or poorly developed. . . .variation from the normal angulation of the condylar process [of mandibles] was observed\". These same authors also reported that \"CP1 NSDTRs [Nova Scotia Duck Tolling Retrievers] had relatively shorter mandibles by an average of 5.46 mm when compared to the normal NSDTRs\".","defect":true,"group_name":"Cleft palate 1, DLX6-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Palatoschisis","omia_group_id":1919,"omia_phene_id":3707,"omia_record_id":"OMIA:001919-9615","publication_ids":[115569,117705,123356,123357],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3707","source_release":"retrieved-2026-09-12","summary":"See 'OMIA:001140-9615 : Cleft lip with or without cleft palate, ADAMTS20-related' for a different form of clef palate in Nova Scotia Duck Tolling retrievers.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Pug (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201089"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Spinal intradural arachnoid diverticulum","inheritance":null,"inheritance_text":"Rohdin et al. (2014) reported that \"Seven related young pugs were diagnosed with cervical spinal intradural arachnoid cysts by magnetic resonance imaging (n=6) and myelography (n=1)\" and that \"Pedigree analysis suggested a genetic predisposition for spinal arachnoid cysts in this family of pugs\"","mondo_terms":[],"name":"","omia_group_id":1923,"omia_phene_id":3714,"omia_record_id":"OMIA:001923-9615","publication_ids":[115652,117954,124275,127185,127186,127188,127189,127190,127191,127287,129157,133350],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3714","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2014,"clinical_features":"Affected puppies present with a history of generalised skeletal muscle weakness and fatigue with an onset in the first weeks to months of life (Mignan et al., 2020). As reported by Rinz et al. (2014): \"Neurological examination was consistent with a generalized neuromuscular disease with marked short-strided tetraparesis that worsened with exercise. Postural reactions were preserved with the exception of hopping which was diminished in all limbs when the puppies were made to bear full weight. Spinal reflexes including the patellar, cranial tibial, and flexor withdrawals were reduced in all limbs. A pyridostigmine bromide challenge resulted in worsening of muscle weakness.\" Clinical signs often progress despite treatment, and most reported cases have resulted in death or euthanasia of affected puppies (Mignan et al., 2020). [IT thanks DVM student Lily Cai for contributions in April 2022]","defect":true,"group_name":"Myasthenic syndrome, congenital, COLQ-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0011281","iri":"http://purl.obolibrary.org/obo/MONDO_0011281","label":"congenital myasthenic syndrome 5"}],"name":"Congenital myasthenic syndromes","omia_group_id":1928,"omia_phene_id":3721,"omia_record_id":"OMIA:001928-9615","publication_ids":[115678,120417,120841,123287,123288],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3721","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pneumonia, aspiration","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1930,"omia_phene_id":3723,"omia_record_id":"OMIA:001930-9615","publication_ids":[115707],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3723","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypomyelinogenesis, congenital","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":527,"omia_phene_id":3724,"omia_record_id":"OMIA:000527-9615","publication_ids":[115713],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3724","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Swedish Vallhund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201316"}],"characterised":true,"characterised_year":2017,"clinical_features":"As summarised by Cooper et al. (2014), \"By examining 324 dogs of the Swedish vallhund breed in seven countries and across three continents, we were able to describe a new and unique form of PRA characterized by the multifocal appearance of red and brown discoloration of the tapetal fundus followed over time by thinning of the retina. We propose three stages of the disease based on the appearance of the ocular fundus and associated visual deficits. Electroretinography revealed a gradual loss of both rod and cone photoreceptor-mediated function in Stages 2 and 3 of the disease. In the few dogs that suffered from pronounced vision loss, night-blindness occurred first in late Stage 2, followed by decreased day-vision in Stage 3. Histologic examinations confirmed the loss of photoreceptor cells at Stage 3, which was associated with the accumulation of autofluorescent material in the adjacent retinal pigment epithelium.\"","defect":true,"group_name":"Retinal atrophy, progressive, MERTK-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"A pedigree analysis \"of nearly 300 Swedish vallhund dogs, including 125 affected animals\" led Cooper et al. (2014) to conclude that this disorder is most likely autosomal recessive.","mondo_terms":[],"name":"Retinopathy","omia_group_id":1932,"omia_phene_id":3727,"omia_record_id":"OMIA:001932-9615","publication_ids":[115746,115747,116199,117733,125219,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3727","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Perosomus elumbis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":789,"omia_phene_id":3728,"omia_record_id":"OMIA:000789-9615","publication_ids":[115750],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3728","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":true,"characterised_year":2013,"clinical_features":"","defect":true,"group_name":"Cushing syndrome, ACTH-independent, adrenal-dependent hypercortisolism","inheritance":{"code":"SMu","name":"Somatic mutation"},"inheritance_text":"","mondo_terms":[],"name":"adrenocortical tumour","omia_group_id":1937,"omia_phene_id":3737,"omia_record_id":"OMIA:001937-9615","publication_ids":[115793,129077,130648],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3737","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypertriglyceridaemia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":514,"omia_phene_id":3747,"omia_record_id":"OMIA:000514-9615","publication_ids":[42332,115843,115844,115845,115846,115847,115852,116828,117535,120998,126510,126926,127021],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3747","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"}],"characterised":true,"characterised_year":2015,"clinical_features":"As reported by Willet et al. (2015), \"The condition is characterised by truncal shortening, extensive hemivertebrae and rib anomalies including malalignment, fusion and reduction in number.\" Also, \"The three affected pups were born stillborn or died within hours of birth. Gross external examination of the pups by the attending veterinarian revealed a reduction in body length compared with normal littermates (data not available). The hindquarters of affected pups were reduced in size compared to the forequarters, giving an overall comma-like morphology to the body\". One of the affected samples had umbilical hernia and another had a cleft hard palate. ","defect":true,"group_name":"Spondylocostal dysostosis, autosomal recessive","inheritance":{"code":"RL","name":"Autosomal recessive lethal"},"inheritance_text":"The three-generation pedigree reported by Willet et al. (2015) was consistent with autosomal recessive inheritance, which was confirmed with genotyping of the causal mutation in the extended family of the affected dogs.","mondo_terms":[],"name":"","omia_group_id":1944,"omia_phene_id":3748,"omia_record_id":"OMIA:001944-9615","publication_ids":[115855,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3748","source_release":"retrieved-2026-09-12","summary":"Also called Comma defect (Willet et al., 2015), \"due to the gross anatomical shape of the abnormal pups\".","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Eurasier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200512"}],"characterised":true,"characterised_year":2015,"clinical_features":"This disorder in Eurasier dogs was described by Bernardino et al. (2015): \"A uniform cerebellar malformation characterized by consistent absence of the caudal portions of the cerebellar vermis and, to a lesser degree, the caudal portions of the cerebellar hemispheres in association with large retrocerebellar fluid accumulations was recognized in 14 closely related Eurasier dogs. Hydrocephalus was an additional feature in some dogs. All dogs displayed non-progressive ataxia, which had already been noted when the dogs were 5 - 6 weeks old. The severity of the ataxia varied between dogs, from mild truncal sway, subtle dysmetric gait, dysequilibrium and pelvic limb ataxia to severe cerebellar ataxia in puppies and episodic falling or rolling. Follow-up examinations in adult dogs showed improvement of the cerebellar ataxia and a still absent menace response. Epileptic seizures occurred in some dogs. The association of partial vermis agenesis with an enlarged fourth ventricle and an enlarged caudal (posterior) fossa resembled a Dandy-Walker-like malformation in some dogs\".","defect":true,"group_name":"Cerebellar hypoplasia, VLDLR-associated","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Dandy-Walker-like malformation; inferior cerebellar hypoplasia","omia_group_id":1947,"omia_phene_id":3750,"omia_record_id":"OMIA:001947-9615","publication_ids":[115892,115893,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3750","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[{"id":"HP:0000238","iri":"http://purl.obolibrary.org/obo/HP_0000238","label":"hydrocephalus"},{"id":"HP:0000639","iri":"http://purl.obolibrary.org/obo/HP_0000639","label":"nystagmus"},{"id":"HP:0002438","iri":"http://purl.obolibrary.org/obo/HP_0002438","label":"cerebellar malformation"},{"id":"HP:0002527","iri":"http://purl.obolibrary.org/obo/HP_0002527","label":"fall"},{"id":"MP:0001393","iri":"http://purl.obolibrary.org/obo/MP_0001393","label":"ataxia"},{"id":"MP:0001406","iri":"http://purl.obolibrary.org/obo/MP_0001406","label":"abnormal gait"},{"id":"MP:0002064","iri":"http://purl.obolibrary.org/obo/MP_0002064","label":"seizure"},{"id":"MP:0005191","iri":"http://purl.obolibrary.org/obo/MP_0005191","label":"head tilt"}]} +{"breeds":[{"name":"Lagotto Romagnolo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200804"}],"characterised":true,"characterised_year":2015,"clinical_features":"As reported by Kyöstilä et al. (2015), \"The typical clinical presentation in affected dogs was progressive ataxia\". Neurological examination \"revealed a mild to severe cerebellar ataxia . . . The majority of dogs had normal paw positioning responses when postural reactions were tested but showed delayed onset of correction in hopping reactions. Spinal reflexes were normal except for decreased or absent patellar reflexes in five dogs. Menace reaction was decreased in eight dogs, and exaggerated in one dog. Positional nystagmus was visible in four dogs during the eurological examination. Magnetic resonance imaging of the brain was performed in 11 affected dogs. The principal findings included signs of mild atrophy of the cerebellum in nine dogs and of the forebrain in six dogs. In five dogs, lateral ventricles were enlarged. A small corpus callosum was detected in three affected dogs when compared to age matched LRs. In two affected dogs, the brain imaging was unremarkable.\"","defect":true,"group_name":"Neurodegenerative vacuolar storage disease","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"LSD is inherited as a monogenic autosomal recessive trait. The age of onset varies and clinical symptoms appear at a mean age of 23 months with a range of approximately 4 months to 4 years. Kyöstilä et al. (2015) also noted incomplete penetrance as they encountered 3 out of 25 homozygous mutant dogs that did not show any clinical symptoms. These 3 dogs were 4, 7, and 12 years old at the time of the investigation.","mondo_terms":[],"name":"Lagotto storage disease","omia_group_id":1954,"omia_phene_id":3762,"omia_record_id":"OMIA:001954-9615","publication_ids":[115967,117626,120972,125285,127782,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3762","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Basset Bleu de Gascogne (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200124"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Chinese Crested (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200345"},{"name":"Small Swiss Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201251"}],"characterised":true,"characterised_year":2015,"clinical_features":"Guo et al. (2015): \"progressive neurological decline that included blindness, anxiety, and cognitive impairment. A diagnosis of neuronal ceroid lipofuscinosis was made based on neurological signs, magnetic resonance imaging of the brain, and fluorescence microscopic and electron microscopic examination of brain sections\". Similar clinical signs were also observed in Chihuahuas (Faller et al. 2016).
Rietmann et al. (2024) \"investigated two Small Swiss Hound littermates that showed progressive ataxia and loss of cognitive functions and vision starting around the age of 12 months. Both dogs had to be euthanized a few months after the onset of disease owing to the severity of their clinical signs.\"","defect":true,"group_name":"Neuronal ceroid lipofuscinosis, 7","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0012588","iri":"http://purl.obolibrary.org/obo/MONDO_0012588","label":"neuronal ceroid lipofuscinosis 7"}],"name":"","omia_group_id":1962,"omia_phene_id":3776,"omia_record_id":"OMIA:001962-9615","publication_ids":[116003,116274,116621,116668,117735,120540,122714,123318,128324,128837],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3776","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Landseer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200809"}],"characterised":true,"characterised_year":2015,"clinical_features":"Generalized progressive muscle weakness is noticed very early in life. Due to the severity of the disease affected dogs are euthanized at 5-15 months of age (Steffen et al. 2015).\r\nBrands et al. (2020) \"present the long-term follow up characterization of the clinical and pathological phenotype of the Landseer dogs [homozgous for the p.Glu97* variant] and a comparative analysis between dogs and humans in order to provide the Landseer dog as a useful model for human UCMD\".","defect":true,"group_name":"Muscular dystrophy, Ullrich type, COL6A1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Muscular Dystrophy","omia_group_id":1967,"omia_phene_id":3783,"omia_record_id":"OMIA:001967-9615","publication_ids":[116106,116107,121124],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3783","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Alaskan Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200015"},{"name":"Black Russian Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200174"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"}],"characterised":true,"characterised_year":2015,"clinical_features":"In Alaskan Huskies neurological signs start at 4 to 5 months of age with visual problems. Slightly later affected dogs display an altered voice due to laryngeal paralysis, regurgitation, and gait abnormalities progressing to a severe ataxia. Dogs are typically euthanized between 8 and 16 months of age. Affected dogs have bilateral microphthalmia, small pupils, and lenses with cataract. Some affected dogs additionally exhibit strabismus and/or persistent pupillary membranes (Wiedmer et al. 2015). The Black Russian Terriers presented slightly earlier than the Alaskan Huskies at 3 months of age with laryngeal paralysis and respiratory distress. They were all euthanized by 6 months of age for severe dyspnea (Mhlanga-Mutangadura et al. 2016 (Neurobiol. Dis.) and Dennis O'Brien, personal communication).","defect":true,"group_name":"Polyneuropathy, RAB3GAP1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Neuronal vacuolation and spinocerebellar degeneration; Polyneuropathy, ocular abnormalities and neuronal vacuolation;","omia_group_id":1970,"omia_phene_id":3788,"omia_record_id":"OMIA:001970-9615","publication_ids":[76187,80360,82657,109480,116121,116122,116123,116124,116126,120703,125653,128324,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3788","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"}],"characterised":true,"characterised_year":2015,"clinical_features":"Clinical examination revealed signs of a generalized severe hyperkeratosis in all cases with a formation of a strongly wrinkled, thickened and scaling skin especially in the region of the eyes and nose. These changes led to a dry inelastic and lichenified skin of an untidy appearance in the affected dogs and a markedly swollen periocular skin which impeded the opening of the puppy’s eyes in some cases. In-between the wrinkles the exudative character of the skin promoted secondary infections. Due to the poor prognosis, all affected dogs were euthanized at the age of 7–40 days. Additional computer tomographic and endoscopic examinations after euthanasia in two five week old affected dogs revealed a ventrally displaced auditory canal with an atypically wrinkled shape but no signs of other anomalies (Metzger et al. 2015).","defect":true,"group_name":"Ichthyosis, SLC27A4-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0012089","iri":"http://purl.obolibrary.org/obo/MONDO_0012089","label":"ichthyosis prematurity syndrome"}],"name":"","omia_group_id":1973,"omia_phene_id":3791,"omia_record_id":"OMIA:001973-9615","publication_ids":[116158,116159,122810,123125],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3791","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Spanish Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201280"}],"characterised":true,"characterised_year":2015,"clinical_features":"As reported by Hahn et al. (2015): \"Affected dogs presented with various neurological deficits including gait abnormalities and behavioral deficits. Histopathology demonstrated spheroid formation accentuated in the grey matter of the cerebral hemispheres, the cerebellum, the brain stem and in the sensory pathways of the spinal cord. Iron accumulation was absent. Ultrastructurally spheroids contained predominantly closely packed vesicles with a double-layered membrane, which were characterized as autophagosomes using immunohistochemistry.\"","defect":true,"group_name":"Neuroaxonal dystrophy, TECPR2-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1975,"omia_phene_id":3794,"omia_record_id":"OMIA:001975-9615","publication_ids":[116173,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3794","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Basset Fauve de Bretagne (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200125"},{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Chinese Shar-Pei (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200351"},{"name":"Petit Basset Griffon Vendeen (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201009"}],"characterised":true,"characterised_year":2015,"clinical_features":"","defect":true,"group_name":"Glaucoma, primary open angle, ADAMTS17-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Weill-Marchesani-like syndrome; goniodysgenesis","omia_group_id":1976,"omia_phene_id":3797,"omia_record_id":"OMIA:001976-9615","publication_ids":[116184,116665,116700,116789,117009,117845,119276,119277,119278,123851,124864,125219,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3797","source_release":"retrieved-2026-09-12","summary":"see also OMIA 000588-9615 : Lens luxation in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"}],"characterised":true,"characterised_year":2015,"clinical_features":"","defect":true,"group_name":"Retinal atrophy, progressive, CNGA1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0800405","iri":"http://purl.obolibrary.org/obo/MONDO_0800405","label":"CNGA1-related retinopathy"}],"name":"PRA, rod-cone degeneration","omia_group_id":1977,"omia_phene_id":3798,"omia_record_id":"OMIA:001977-9615","publication_ids":[116189,125219,126404,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3798","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2015,"clinical_features":"","defect":true,"group_name":"Achromatopsia-2, CNGA3-related","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009003","iri":"http://purl.obolibrary.org/obo/MONDO_0009003","label":"achromatopsia 2"}],"name":"Cone degeneration - hemeralopia/achromatopsia","omia_group_id":1481,"omia_phene_id":3801,"omia_record_id":"OMIA:001481-9615","publication_ids":[116201,125219,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3801","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200034"},{"name":"American Bully (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200036"}],"characterised":true,"characterised_year":2017,"clinical_features":"The gross phenotype was manifest as a disheveled pelage shortly after birth, generalized scaling, and adherent brown scale with erythema of the abdominal skin (Mauldin et al. 2015).","defect":true,"group_name":"Ichthyosis, NIPAL4-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0012847","iri":"http://purl.obolibrary.org/obo/MONDO_0012847","label":"autosomal recessive congenital ichthyosis 6"}],"name":"autosomal recessive congenital ichthyosis","omia_group_id":1980,"omia_phene_id":3804,"omia_record_id":"OMIA:001980-9615","publication_ids":[114161,116205,117474,118585,122810],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3804","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"}],"characterised":true,"characterised_year":2019,"clinical_features":"Kondo et al. (2015) reported \"Affected dogs had normal retinas on clinical examination, but showed no detectable rod responses. They had “negative-type” mixed rod and cone responses in full-field ERGs. Their photopic long-flash ERGs had normal OFF-responses associated with severely reduced ON-responses. The phenotype is similar to the Schubert-Bornschein form of complete CSNB in humans.\"","defect":true,"group_name":"Night blindness, congenital stationary, LRIT3-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Kondo et al. (2015): \"o define the inheritance pattern for the disease, a colony of beagle dogs with CSNB was developed from 3 founder animals (F5858, M4 and M6233), and expanded by outcross, backcross and intercross to produce affected (n = 24) and obligate carrier (n = 22) dogs . . . . Dominant inheritance was excluded as the progeny (n = 11), both male and female, were phenotypically normal when affected dogs were outcrossed to unrelated normal dogs (expected = 5-6/11 dogs affected; observed = 0/11). When the progeny was used in backcrosses to affected animals, they produced affected and non-affected offspring in approximately 1:1 ratio as expected for an autosomal recessive disease. X-linked inheritance was ruled out as both sexes were affected in the pedigree. Eight of the nineteen offspring produced as a result of mating between obligate carrier and affected dogs had the CSNB phenotype. Mating between affected dogs resulted in pups all of which had the CSNB phenotype. These results are consistent with autosomal recessive mode of inheritance.\"","mondo_terms":[{"id":"MONDO:0014026","iri":"http://purl.obolibrary.org/obo/MONDO_0014026","label":"congenital stationary night blindness 1F"}],"name":"Congenital stationary night blindness","omia_group_id":1486,"omia_phene_id":3809,"omia_record_id":"OMIA:001486-9615","publication_ids":[116238,118059,120515,120982,123142,125010,125219,129012,129719,129760,130075],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3809","source_release":"retrieved-2026-09-12","summary":"Kondo et al. (2015) reported \"a naturally occurring disease in the beagle dog that is a model for autosomal recessive [complete Congenital Stationary Night Blindness] cCSNB in man\" Miyadera et al. (2022) and Takahashi et al. (2023) report extended functional rescue following subretinal gene therapy.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":true,"characterised_year":2014,"clinical_features":"Progressive retinal atrophy results in bilateral degeneration of the retina. Affected dogs typically present with bilateral and progressive loss of vision and will eventually be completely blind. Clinical signs of PRA 2 typically begin to manifest at an average age of 5 years. Clinical examination in affected animals will show a hyper-reflective tapetum and retinal vessel attenuation. In later stages of the disease, dogs will show changes in pigment, pale optic discs and optic nerve atrophy (Downs et al., 2011). Mäkeläinen et al. (2020): \"The progression of PRA for two of the dogs was followed for 2 years ... . In addition to PRA, the dogs showed a spectrum of clinical and morphological signs similar to primary and secondary characteristics of human BBS patients, such as obesity, renal anomalies, sperm defects, and anosmia.\" [IT thanks DVM student Rachel Simmonds for contributions to this entry in April 2022.]","defect":true,"group_name":"Retinal atrophy, progressive, TTC8-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013274","iri":"http://purl.obolibrary.org/obo/MONDO_0013274","label":"retinitis pigmentosa 51"},{"id":"MONDO:0014436","iri":"http://purl.obolibrary.org/obo/MONDO_0014436","label":"Bardet-Biedl syndrome 8"}],"name":"Golden Retriever PRA 2, Golden Retriever progressive retinal atrophy 2","omia_group_id":1984,"omia_phene_id":3810,"omia_record_id":"OMIA:001984-9615","publication_ids":[112004,116246,116380,123279,123857,125219,125653,126404,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3810","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Bedlington Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200137"}],"characterised":true,"characterised_year":2005,"clinical_features":"Su et al. (1982): Bedlington terriers with copper toxicosis initially present clinically normal despite increases in hepatic and renal and later brain copper levels. \"The dogs's ceruloplasmin level is reported to be normal, Kayser-Fleischer rings have not been observed, and neurological manifestations are lacking. However, owners of these dogs have noted significant personality changes preceding symptoms of the hepatic disease\" which occurs as disease is progressing. \r\nFavier et al. (2012) report longitudinal follow up of 5 COMMD-1 deficient Bedlington terriers until the age of 42 month: \"During the entire follow-up period dogs showed no abnormalities at physical examination. Serum ALT was significantly increased at 24, 36, and 42 months of age (2–3-fold), whereas serum AP significantly increased at 18 and 42 months of age. During the 42 months follow-up period, bile acids and albumin remained within reference limits ... .\"\r\nAcute clinical signs of hepatic disease in older animals include depression, vomiting, anorexia, prolonged capillary refill time, weight loss and jaundice. Chronic courses involve less severe signs but can include ascites, polydipsic and behavioural changes due to hepatic encephalopathy (Washabau, 2013; Herrtage et al., 1987).\r\nIT thanks DVM student Xinlin Dong, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Copper toxicosis, COMMD1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"copper toxicosis, atypical form of Wilson disease","omia_group_id":1988,"omia_phene_id":3820,"omia_record_id":"OMIA:001988-9615","publication_ids":[8359,9234,9371,22881,32613,38962,54125,54126,54129,55369,72018,77228,81029,83035,83036,83037,83038,85766,85963,86766,88755,91212,91413,91711,92572,95250,96479,99699,102935,105486,105688,106999,107035,107046,107058,107220,107408,107419,107879,112546,112547,112548,112549,112598,112599,112600,112601,117011,117203,117204,119381,120022,120467,120843,121000,121367,124708,124809,125685,125907,127424],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3820","source_release":"retrieved-2026-09-12","summary":"Bedlington terrier copper toxicosis has been reported to be caused by a homozygous exon deletion in COMMD1 (Forman et al., 2005). However, copper toxicosis has since been diagnosed in Bedlington terriers lacking the COMMD1 deletion, and in these dogs the disease has been associated with two splice variants in the ABCA12 gene (Haywood et al. 2016) and a variant in the ATP7B gene that has been proposed as causal variant for Wilson disease (see OMIA:001071-9615 : Wilson disease in Canis lupus familiaris) (Haywood et al., 2023). \r\n\r\nLabrador retriever copper toxicosis is associated with a missense mutation in ATP7B (see OMIA:001071-9615 : Wilson disease in Canis lupus familiaris), and with a protective mutation in ATP7A (see OMIA:002608-9615 : Modifier of copper toxicosis, ATP7A-related in Canis lupus familiaris).","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Gordon Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200613"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Onychomadesis, symmetrical","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"Symmetrical onychomadesis or symmetrical lupoid onychodystrophy (SLO)","omia_group_id":1989,"omia_phene_id":3821,"omia_record_id":"OMIA:001989-9615","publication_ids":[59072,91350,99677,109195,109196,109201,109202,116308,117156,119954,123096,133402],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3821","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Elo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200479"},{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"Havanese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200662"},{"name":"Staffordshire Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201296"},{"name":"Tibetan Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201353"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Distichiasis","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Peteresen et al. (2015) estimated the heritability of this disorder in English Cocker Spaniels to be \"moderate to high, i.e., 0.22 to 0.51\"\r\nBellamy et al. (2021) estimated the heritability in Havanese dogs in Norway to be high, varing \"between 0.276 (linear model) and 0.720 (Bayesian threshold model).\"\r\n\r\nJoergensen et al. (2022) estimated the heritability in Staffordshire bull terriers: \"The pedigree-based heritability was ~ 0.22 (on the underlying scale ~ 0.48), while the genomic-based heritability (on the underlying scale) was ~ 0.47, and ~ 0.37 when excluding close relatives with equal affection status.\"","mondo_terms":[],"name":"Aberrant eyelashes","omia_group_id":1841,"omia_phene_id":3822,"omia_record_id":"OMIA:001841-9615","publication_ids":[108315,116309,116310,116311,116312,116313,116314,116315,116316,116317,116318,116319,116320,116321,116322,122826,123891,124588,125219,125495,129266],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3822","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Height, HMGA2-associated body-size variation","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1968,"omia_phene_id":3829,"omia_record_id":"OMIA:001968-9615","publication_ids":[114925,116423,119932,132997],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3829","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Glioma, predisposition to","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2012,"omia_phene_id":3868,"omia_record_id":"OMIA:002012-9615","publication_ids":[116632,116633,116634,116635,116636,116637,116638,116639,116640,116641,116642,116643,116644,116645,122764,122770,122771,122772,122773,122774,123609,124551,125089,125111,125637,125693,127204,128004,129033,131000],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3868","source_release":"retrieved-2026-09-12","summary":"Truvé et al. (2016): \"Gliomas are the most common form of malignant primary brain tumors in humans and second most common in dogs, occurring with similar frequencies in both species. Dogs are valuable spontaneous models of human complex diseases including cancers and may provide insight into disease susceptibility and oncogenesis. Several brachycephalic breeds such as Boxer, Bulldog and Boston Terrier have an elevated risk of developing glioma, but others, including Pug and Pekingese, are not at higher risk.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Flat-Coated Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200528"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2016,"clinical_features":"Obesity is a common condition that affects a large percentage of our companion animals (Raffan et al., 2016). Though a high calory diet and a lack of exercise may be at the base, a genetic component to obesity has been investigated (Raffan et al., 2016; Mankowska et al., 2017). A 14bp deletion in the proopiomelanocortin (POMC) gene was found in some Labrador retrievers and Flat-coated retrievers (Raffan et al., 2016). This mutation is predicted to disrupts the action of two peptides (β-MSH and β-endorphin), which are potent appetite and energy metabolism regulators. Due to a disrupted control of appetite, dogs with this mutation are more prone to overfeeding and hence gaining weight and adiposity (Raffan et al., 2016). An increased incidence of this mutation has been reported in assistance dogs, suggesting that selection of food-driven dogs for better trainability purposes inadvertently lead to the selection for this mutation . This mutation has not yet been identified in other breeds and doesn’t seem to have any correlation with diabetes mellitus to date (Davison et al., 2017). IT thanks DVM student Martina Zanin, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Obesity","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1258,"omia_phene_id":3869,"omia_record_id":"OMIA:001258-9615","publication_ids":[116655,117838,120477,120478,121039,122097,123628,125364,125924,126002,127062,127077,129655,129788,132217],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3869","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"}],"characterised":true,"characterised_year":2016,"clinical_features":"Hytönen et a. (2016) \"were approached by a Border Collie breeder with a family of several affected dogs that suffered from severe tooth wear resulting in pulpitis and requiring extraction of those teeth\"","defect":true,"group_name":"Dental hypomineralization","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2015,"omia_phene_id":3872,"omia_record_id":"OMIA:002015-9615","publication_ids":[116682,117295],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3872","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Wire Fox Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201424"}],"characterised":true,"characterised_year":2016,"clinical_features":"Hytönen et al. (2016): \"Wire Fox Terrier breeders contacted us for help in the characterization of an unknown congenital syndrome with severe mandibular prognathia and other skeletal features, mainly severe patellar luxation, in the breed\"","defect":true,"group_name":"Van den Ende-Gupta syndrome","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010959","iri":"http://purl.obolibrary.org/obo/MONDO_0010959","label":"van den Ende-Gupta syndrome"}],"name":"","omia_group_id":2016,"omia_phene_id":3873,"omia_record_id":"OMIA:002016-9615","publication_ids":[116682,117295,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3873","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"West Highland White Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201415"}],"characterised":false,"characterised_year":null,"clinical_features":"As reported by Doelle et al. (2016), \"Affected dogs exhibited markedly indurated skin that was attached firmly to the underlying tissue and incomplete closure of the mouth and eyes. No abnormalities were found by neurological or orthopaedic examination, radiographs of the head or whole body computed tomography. Histologically, the dermis and pannicular septa were thickened by a marked increase in coarse collagen fibres and a mild to moderate increase in collagen fibre diameter.\"","defect":true,"group_name":"Stiff skin syndrome","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Doelle et al. (2016) provided limited circumstantial evidence consistent with autosomal recessive inheritance.","mondo_terms":[],"name":"","omia_group_id":2018,"omia_phene_id":3876,"omia_record_id":"OMIA:002018-9615","publication_ids":[116703],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3876","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Maltese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200856"},{"name":"Scottish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201198"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":true,"characterised_year":2015,"clinical_features":"","defect":true,"group_name":"Ligneous membranitis","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2020,"omia_phene_id":3879,"omia_record_id":"OMIA:002020-9615","publication_ids":[116762,116763,116764,116765,116766,116767,116768,116769,116770,121950,123125,125219],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3879","source_release":"retrieved-2026-09-12","summary":"Ainsworth et al. (2015) \"Ligneous membranitis (LM) is a rare chronic inflammatory condition of the mucous membranes associated with plasminogen (encoded by PLG) deficiency in affected humans and dogs. ... We identified related Scottish Terriers (littermates) with severe LM and unaffected relatives (sire, dam and a sibling from a previous litter). ... Sequencing of PLG from the affected dogs revealed a homozygous A>T single nucleotide polymorphism in an intron donor site (c.1256+2T>A).\" Turba et al. (2021): \"LM was diagnosed in a 7-month-old male Maltese dog. The dog was examined for severe recurrent conjunctivitis. A diagnosis of ligneous conjunctivitis was made by an ophthalmologist after a thorough eye examination and was confirmed by a complete lack of plasma activity of plasminogen. The main local signs were redness of the conjunctiva with persistent membranes having ligneous (wood-like) membranes on the eyes. The disease was associated with a complex rearrangement involving the plasminogen gene loci, causing the complete deletion of exon 1.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Italian Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200714"}],"characterised":true,"characterised_year":2016,"clinical_features":"","defect":true,"group_name":"Myeloperoxidase deficiency","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Since the report by Gentilini et al. (2016) involved just one dog from a local dog shelter, they were not able to provide any direct evidence on inheritance. However, given that this disorder involves homozygosity for an allele at a locus encoding an enzyme, the disorder is most likely to be autosomal recessive. ","mondo_terms":[{"id":"MONDO:0009694","iri":"http://purl.obolibrary.org/obo/MONDO_0009694","label":"myeloperoxidase deficiency"}],"name":"","omia_group_id":2028,"omia_phene_id":3893,"omia_record_id":"OMIA:002028-9615","publication_ids":[116831],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3893","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Lundehund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200838"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"}],"characterised":true,"characterised_year":2016,"clinical_features":"Metzger et al. (2016): \"the Lundehund harbors a breed disposition for a syndrome comprising particular features of protein-losing enteropathy (PLE), intestinal lymphangiectasia, gastrointestinal disturbance, inflammatory bowel disease and malabsorption designated as Lundehund syndrome (LS) . . . . Clinical signs are diarrhea, vomiting, weight loss, edema and apathy often accompanied with decreased concentrations of albumin and globulin in blood profile\"","defect":true,"group_name":"Lundehund syndrome","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Metzger et al. (2016): \" A complex segregation analysis revealed a recessive major gene model as the most likely mode of inheritance with the lowest −2 log-likelihood at 52.6\".","mondo_terms":[],"name":"","omia_group_id":2031,"omia_phene_id":3896,"omia_record_id":"OMIA:002031-9615","publication_ids":[2738,116847,120774,120775,125463,125653,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3896","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"German Spitz (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200585"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2016,"clinical_features":"Forman et al. (2106): \" Clinical signs start between two and seven months of age and include progressive proprioceptive ataxia with intermittent knuckling of the paws, hyperextension of the limbs, and self-mutilation wounds in the distal part of the limbs . . . . Usually, the pelvic limbs are more severely affected than the thoracic limbs. There is decreased or loss of proprioception and nociception in all limbs, and in some cases autonomic signs such as urinary incontinence and in the later stage regurgitation has also been reported (Vermeersch et al. 2005). Electrophysiological studies show decreased or absent sensory nerve compound action potentials, normal or reduced motor nerve conduction velocities and normal electromyography in the appendicular muscles.\" Gutierrez-Quintana et al. (2021): \"Five related mixed breed puppies from 2 litters were presented over a 2-year period ... . All had a previous history of severe mutilation of the distal pelvic limbs and chronic progressive pelvic limb gait abnormalities. ... Electrodiagnostic testing was performed ... and abnormalities were limited to the absence of sensory nerve action potentials (SNAP) during sensory nerve stimulation.\"","defect":true,"group_name":"Neuropathy, sensory, RETREG1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013142","iri":"http://purl.obolibrary.org/obo/MONDO_0013142","label":"neuropathy, hereditary sensory and autonomic, type 2B"}],"name":"Sensory neuropathy; hereditary sensory and autonomic neuropathy","omia_group_id":2032,"omia_phene_id":3902,"omia_record_id":"OMIA:002032-9615","publication_ids":[109108,109109,116894,116895,118890,118991,118992,121982,121983,121984,128324,128532],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3902","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Vizsla (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201389"}],"characterised":true,"characterised_year":2016,"clinical_features":"Fenn et al. (2016) report two affected littermates \"with a history of progressive ataxia, starting around three months of age. Clinical signs included marked hypermetric and dysmetric ataxia, truncal sway, intention tremors and absent menace responses, with positional horizontal nystagmus in one dog. Routine diagnostic investigations were unremarkable, and magnetic resonance imaging performed in one dog revealed mild craniodorsal cerebellar sulci widening, supportive of cerebellar atrophy.\"","defect":true,"group_name":"Cerebellar cortical degeneration, SNX14-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2034,"omia_phene_id":3907,"omia_record_id":"OMIA:002034-9615","publication_ids":[116929,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3907","source_release":"retrieved-2026-09-12","summary":"Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes an ataxia form that is caused by a genetic variant in the SNX14 gene. Phenotypically related ataxias in dogs may also be caused by variants in more than 30 other genes (Cocostîrc et al. 2023; Stee et al. 2023). Thus, locus heterogeneity for this phenotype must be considered.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Puli (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201102"}],"characterised":true,"characterised_year":2017,"clinical_features":"Chew et al. (2017; Animal Genetics): \"Diagnosis was based on ophthalmologic changes observed including vascular attenuation, hyper-reflectivity and reduced myelination in the optic nerve head.\"","defect":true,"group_name":"Bardet-Biedl syndrome 4","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Chew et al. (2017; Animal Genetics) reported that \"The pattern of inheritance for PRA in the Hungarian Puli family is consistent with the autosomal recessive form of inheritance.\"","mondo_terms":[{"id":"MONDO:0014433","iri":"http://purl.obolibrary.org/obo/MONDO_0014433","label":"Bardet-Biedl syndrome 4"}],"name":"","omia_group_id":2045,"omia_phene_id":3923,"omia_record_id":"OMIA:002045-9615","publication_ids":[117611,117613,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3923","source_release":"retrieved-2026-09-12","summary":"This disorder is a form of progressive retinal atrophy (PRA).","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200038"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Shiba Inu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201220"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Glaucoma, primary open angle","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2046,"omia_phene_id":3925,"omia_record_id":"OMIA:002046-9615","publication_ids":[114922,117009,118708,123695,125219],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3925","source_release":"retrieved-2026-09-12","summary":"see also entries in OMIA relating to forms of this disease for which causal variants have been identified: e.g., OMIA:001870-9615 : Glaucoma, primary open angle, ADAMTS10-related in Canis lupus familiaris; OMIA:001976-9615 : Glaucoma, primary open angle, ADAMTS17-related in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Nova Scotia Duck Tolling Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200964"}],"characterised":true,"characterised_year":2025,"clinical_features":"As summarised by Barker et al. (2016): \"Clinical signs of neurological dysfunction began between 2 months and 5 years of age and were progressive in nature. They were characterized by episodes of marked movements during sleep, increased anxiety, noise phobia, and gait abnormalities. Magnetic resonance imaging documented symmetrical, progressively increasing, T2‐weighted image intensity, predominantly within the caudate nuclei, consistent with necrosis secondary to gray matter degeneration. Abnormalities were not detected on clinicopathological analysis of blood and cerebrospinal fluid, infectious disease screening or urine metabolite screening in most cases.\"","defect":true,"group_name":"Degenerative encephalopathy, RB1CC1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"\"Genealogical analysis supports an autosomal recessive mode of inheritance.\" (Barker et al., 2016)","mondo_terms":[],"name":"","omia_group_id":2055,"omia_phene_id":3941,"omia_record_id":"OMIA:002055-9615","publication_ids":[117096,129558],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3941","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Blood group system/dog erythrocyte antigen Dal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2057,"omia_phene_id":3945,"omia_record_id":"OMIA:002057-9615","publication_ids":[117154,120516,121350,122970,124581,125254,130462],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3945","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Blood group system/dog erythrocyte antigen Kai","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2058,"omia_phene_id":3946,"omia_record_id":"OMIA:002058-9615","publication_ids":[117153,117880,120516,121350,122970],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3946","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Guillain-Barr-like polyradiculoneuropathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2062,"omia_phene_id":3952,"omia_record_id":"OMIA:002062-9615","publication_ids":[117208],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3952","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Stevens-Johnson syndrome, predisposition to","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2070,"omia_phene_id":3963,"omia_record_id":"OMIA:002070-9615","publication_ids":[117273],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3963","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2016,"clinical_features":"Busse et al. (2019): \"Labrador Retrievers affected by MCD were presented between the age of 4.5 and 6 years of age with a history of cloudy eyes and/or visual impairment. Findings on ophthalmic examination included a diffuse haze of the corneal stroma and multiple, well-demarcated, off-white to yellow-brown, punctate corneal opacities heterogeneous in size. Corneal vascularization developed in most dogs as the disease progressed. Disease progression was associated with increased density of the corneal haze as well as increased number and size of the focal opacities and dogs developed significant visual impairment. Spectral domain-optical coherence tomography revealed multifocal hyper-reflective regions within the stroma. In vivo confocal microscopy revealed marked alterations in reflectivity throughout the entire stroma. Normal keratocytes could not be identified in affected areas.\"","defect":true,"group_name":"Macular corneal dystrophy","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009020","iri":"http://purl.obolibrary.org/obo/MONDO_0009020","label":"macular corneal dystrophy"}],"name":"","omia_group_id":2071,"omia_phene_id":3969,"omia_record_id":"OMIA:002071-9615","publication_ids":[117296,117297,120787,125219],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3969","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Old Danish Pointing Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0000668"}],"characterised":true,"characterised_year":2007,"clinical_features":"Affected dogs can run normally for 5 to 30 minutes, but then begin to take shorter and shorter strides. Eventually, they fall down with flexed legs. The signs disappear after several minutes of rest, but will recur if exercise is continued. These dogs have no detectable antibodies against acetylcholine receptors, and have normal numbers of acetylcholine receptors at the neuromuscular junction. In contrast to dogs with myasthenia gravis, neither edrophonium nor neostigmine has any effect on the clinical signs (Proschowsky et al., 2007).","defect":true,"group_name":"Myasthenic syndrome, congenital, CHAT-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009689","iri":"http://purl.obolibrary.org/obo/MONDO_0009689","label":"congenital myasthenic syndrome 6"}],"name":"Congenital myasthenic syndrome","omia_group_id":2072,"omia_phene_id":3972,"omia_record_id":"OMIA:002072-9615","publication_ids":[44476,108230,110536,120841,124982,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3972","source_release":"retrieved-2026-09-12","summary":"Congenital myasthenic syndrome is a neuromuscular disorder of Old Danish Pointing Dogs characterized by transient paralysis after exercise. The causative mutation in ChAT causes reduced presynaptic acetylcholine synthesis. A genetic test is available.\r\n\r\nEdited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"},{"name":"Heideterrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200666"},{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"Smooth Fox Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201258"}],"characterised":true,"characterised_year":2015,"clinical_features":"Rinz et al. (2015) reported that affected Jack Russell Terrier (JRT) pups appeared normal until 6 weeks of age. \"Affected JRT pups showed generalized muscle weakness at 7 weeks of age, walking only briefly for 10–15 short-strided steps before sitting or lying down.\" Treatment with anticholinesterase drug resulted in temporary improvement of muscle weakness. \"Development of drug resistance necessitated euthanasia.\" Herder et al. (2017): \"In a litter of Heideterriers, four out of 11 puppies showed a lack of reflexes and coordination of the front limbs 6 days after birth. Consciousness and general condition of these animals was reported to be normal, and none showed fever. The four affected puppies displayed weakness progressing over the course of the day and peaking at night time. The most severely affected animal showed falling to the side and recumbency, while still being alert and trying to play in this position.\"","defect":true,"group_name":"Myasthenic syndrome, congenital, CHRNE-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Jack Russel terrier type congenital myasthenic\r\nsyndrome; post-synaptic congenital myasthenic syndrome; myasthenia gravis-like disease","omia_group_id":685,"omia_phene_id":3973,"omia_record_id":"OMIA:000685-9615","publication_ids":[7631,117324,117325,117326,117327,117328,117625,120841,128182,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3973","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200638"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hyperhomocysteinaemia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Hyperhomocysteinemia","omia_group_id":2079,"omia_phene_id":3982,"omia_record_id":"OMIA:002079-9615","publication_ids":[117389,124719],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3982","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Eurasier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200512"}],"characterised":true,"characterised_year":2016,"clinical_features":"","defect":true,"group_name":"Epidermolysis bullosa, simplex, PLEC-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2080,"omia_phene_id":3983,"omia_record_id":"OMIA:002080-9615","publication_ids":[117396,123125,123600,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3983","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Epidermolysis bullosa, simplex","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2082,"omia_phene_id":3987,"omia_record_id":"OMIA:002082-9615","publication_ids":[6840],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:3987","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Soft Coated Wheaten Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201260"}],"characterised":true,"characterised_year":2016,"clinical_features":"","defect":true,"group_name":"Dyskinesia, paroxysmal, PIGN-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2084,"omia_phene_id":3989,"omia_record_id":"OMIA:002084-9615","publication_ids":[117400,117405,117686,122714,123965,128068,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3989","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Whippet (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201421"}],"characterised":false,"characterised_year":null,"clinical_features":"As reported by Somma et al. (2017), \"The retinal dystrophy reported here in Whippet dogs has a unique phenotype of an initial lack of ERG b-wave, development of retinal bullae then a progressive generalized retinal degeneration\".","defect":true,"group_name":"Retinal atrophy, progressive, Whippet","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2085,"omia_phene_id":3990,"omia_record_id":"OMIA:002085-9615","publication_ids":[117407,125219,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3990","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dogue de Bordeaux (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200450"}],"characterised":true,"characterised_year":2015,"clinical_features":"Plassais et al. (2015): \"The onset usually occurred between 10 weeks and 1 year of age. First described by Paradis (1992), affected dogs exhibit a painful thickening of the footpads with severe keratinous proliferations and fissures only at the ground contact locations similar to those observed in FNEPPK patients . . . . Cracks predispose the dogs to secondary infections, leading to lameness, causing the dog to be reluctant to walk. Nails did not seem to be affected . . . Similarly, no other cutaneous sign such as oral leukoplakia, cysts, or follicular keratosis was reported.\"","defect":true,"group_name":"Palmoplantar keratoderma, nonepidermolytic, focal 1","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013073","iri":"http://purl.obolibrary.org/obo/MONDO_0013073","label":"palmoplantar keratoderma, nonepidermolytic, focal 1"}],"name":"","omia_group_id":2088,"omia_phene_id":3993,"omia_record_id":"OMIA:002088-9615","publication_ids":[117450,117451,123125],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3993","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Belgian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200144"},{"name":"Belgian Shepherd Dog, Malinois (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200147"},{"name":"Bouvier des Ardennes (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200207"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"},{"name":"Parson Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200987"},{"name":"Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201145"},{"name":"Smooth Fox Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201258"},{"name":"Tenterfield Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201342"}],"characterised":true,"characterised_year":2014,"clinical_features":"Spinocerebellar ataxia with myokymia, seizures, or both (SAMS): \"The median age at onset of cerebellar ataxia in 12 dogs was 3 months (range, 2–6 months)\" (Gilliam et al. 2014). Ten out of twelve SAMS-affected dogs of the Russell terrier group showed muscle twitches (myokymia). The median age at onset for myokymia was 6 months (range, 3–8 months). Some SAMS dogs developed seizures. (Gilliam et al. 2014). Spongy degeneration with cerebellar ataxia 1 (SDCA1): This phenotype occurs in Malinois dogs and has an earlier age of onset than SAMS. Kleiter et al. (2011) investigated 5 closely related litters with presumed SDCA1 (the KCNJ10:p.Leu329Pro variant was confirmed in only one of the litters, Mauri et al. 2017). Malinois puppies with SDCA1 developed a severe ataxia at 4-7 weeks of age. Affected dogs showed shivering and were unable to start walking without falling. The severe condition resulted in euthanasia at 5-13 weeks of age (Kleiter et al. 2011). Van Poucke et al. (2017) reported another detailed clinical analysis of 3 SDCA1 affected Malinois dogs. One of the dogs was still alive at 1 year of age despite severely debilitating non-ambulatory ataxia. Van Poucke et al. noted ataxia, myokymia and neuromyotonia as well as auditory changes in SDCA1 affected dogs.","defect":true,"group_name":"Ataxia, cerebellar, KCNJ10-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013005","iri":"http://purl.obolibrary.org/obo/MONDO_0013005","label":"EAST syndrome"}],"name":"Spinocerebellar ataxia with myokymia, seizures or both (SAMS); spongy degeneration with cerebellar ataxia 1 (SDCA1)","omia_group_id":2089,"omia_phene_id":3994,"omia_record_id":"OMIA:002089-9615","publication_ids":[6358,26046,44102,107373,110678,115688,115689,115690,115691,115692,117132,117171,117436,117449,117459,117562,122714,123916,125285,125653,126199,128324,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:3994","source_release":"retrieved-2026-09-12","summary":"Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes ataxia forms that are caused by genetic variants in the KCNJ10 gene. Phenotypically related ataxias in dogs may also be caused by variants in more than 30 other genes (Cocostîrc et al. 2023; Stee et al. 2023, pmid 37341581). Thus locus heterogeneity for this phenotype must be considered. There are currently 2 different KCNJ10 pathogenic variants known in dogs (p.Ile209Met in various Terrier breeds and p.Leu329Pro in Belgian Shepherds). These canine disorders represent models for SeSAME/EAST syndrome in humans (see MIM link above).","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"}],"characterised":true,"characterised_year":2012,"clinical_features":"A (single) four- week- old male beagle puppy with a ten-day history of severe cerebellar ataxia was investigated. \"The dog was the only affected one from a litter of seven puppies. The breeder noticed that the affected puppy was not able to ambulate normally from the onset of walking and the clinical signs had remained stable since then. The puppy was otherwise eating and drinking well and there were no signs of systemic illness in the littermates, in the dam (also during gestation) or in the sire. Physical examination did not reveal any gross abnormalities apart from the neurological signs. Neurological examination revealed severe cerebellar ataxia, with tendency to lean and fall towards both sides, resulting in inability to walk without assistance. Proprioceptive positioning was normal while hopping reactions were abnormal with delayed onset of protraction and exaggerated response, once initiated. Spinal reflexes were normal in all four limbs. Cranial nerve examination revealed an absent menace response bilaterally with normal vision. Occasionally when the head was positioned in extension spontaneous rotatory nystagmus was observed. A lesion involving mainly the cerebellum and spinocerebellar tracts was suspected.\" (Forman et al. 2012)","defect":true,"group_name":"Ataxia, spinocerebellar, SPTBN2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Neonatal cerebellar cortical degeneration","omia_group_id":2092,"omia_phene_id":4000,"omia_record_id":"OMIA:002092-9615","publication_ids":[112558,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4000","source_release":"retrieved-2026-09-12","summary":"Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes an ataxia form that is caused by a genetic variant in the SPTBN2 gene. Phenotypically related ataxias in dogs may also be caused by variants in more than 30 other genes (Cocostîrc et al. 2023; Stee et al. 2023). Thus, locus heterogeneity for this phenotype must be considered. The SPTBN2 associated canine disorder represents a model for spinocerebeallar ataxia, autosomal recessive 14, and possibly also spinocerebellar ataxia 5 in humans (see MIM links above).","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Lameness","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":579,"omia_phene_id":4003,"omia_record_id":"OMIA:000579-9615","publication_ids":[117477],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4003","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Hairless Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200049"},{"name":"Rat Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201125"},{"name":"Scottish Deerhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201195"}],"characterised":true,"characterised_year":2017,"clinical_features":"American Hairless Terrier puppies are born with a sparse downy coat of hair that is lost within the first months of life and not replaced. Whiskers and eyebrows are present (Sponenberg et al., 1988). The 2 Scottish Deerhound puppies reported by Hytönen & Lohi (2019) \"were born with sparse hair, but lost it completely within the first 2 months of life.\" Parker et al. (2020) identified the condition in an independent Scottish Deerhound family and noted that \"puppies displayed either a normal, full coat or a sparse and receding coat ... . In those who initially had hair but went bald, the coat progressively thinned early in life and was completely gone by five weeks.\" Hairless dogs in both breeds are described as otherwise generally healthy (Parker et al., 2017; Hytönen & Lohi, 2019; Parker et al., 2020), but hairlessness is considered non desirable in the Scottish Deerhound.","defect":true,"group_name":"Hypotrichosis, recessive","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Sponenberg et al. (1988) reported matings of haired American Rat Terriers and American Hairless Terriers (AHT, the first AHT is from a litter American Rat Terriers) and concluded that the results were consistent with an autosomal recessive inheritance.","mondo_terms":[],"name":"Recessive hairlessness, congenital alopecia","omia_group_id":1279,"omia_phene_id":4005,"omia_record_id":"OMIA:001279-9615","publication_ids":[117501,117502,118931,120420,123125,124961,124967,125653,130364],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4005","source_release":"retrieved-2026-09-12","summary":"See also OMIA:000323-9615 : Ectodermal dysplasia in Canis lupus familiaris (dog) for a different genetic form of hairless dogs due to variants in the FOXI3 gene.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Rhodesian Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201135"}],"characterised":true,"characterised_year":2017,"clinical_features":"Affected Rhodesian Ridgeback (RR) dogs present with frequent myoclonic twitches that tend to begin between the age of 6 weeks and 18 months old. These episodes can be triggered by visual stimuli including flashing lights, sudden light exposure or flickering light (Wielaender et al., 2017). Generally, episodes begin when animals are recumbent and relaxed, but occasionally occur when dogs are standing (Wielaender et al., 2017). Twitches are mainly seen in the musculature of the trunk and proximal limb, as well as in cervical musculature and masticatory muscles (Wielaender et al., 2017). In 38% of dogs, the disease advanced to generalised tonic-clonic seizures within 6 months (Wielaender et al., 2017). No changes in behaviour have been noted prior to seizure episodes (Wielaender et al., 2017). Wielaender et al., 2018: \"Absence seizures represent another seizure type in juvenile myoclonic epilepsy (JME) in RR dogs.\"\r\nIT thanks DVM student Emily Gee, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Epilepsy, generalized myoclonic, with photosensitivity","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2095,"omia_phene_id":4007,"omia_record_id":"OMIA:002095-9615","publication_ids":[117508,118904,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4007","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Italian Spinone (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200721"}],"characterised":true,"characterised_year":2015,"clinical_features":"\"Clinical signs start to appear at four months of age and progress to a degree of dysfunction which leads to euthanasia of affected dogs at one year of age on average.\" ... \"Neurological characteristics of SCAIS include a wide-based stance, spinocerebellar ataxia characterised by thoracic limb hypermetria (hyperextension), pelvic limb hyperflexion, truncal swaying, impaired balance, pendular nystagmus and absent menace response bilaterally. The remainder of the neurological examination was within normal limits. As the disease progressed intentional head tremor was observed and balance impairment deteriorated to the point that the dogs were unable to stand up and ambulate at approximately 1 year of age.\" (Forman et al. 2015)","defect":true,"group_name":"Ataxia, spinocerebellar, ITPR1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Spinocerebellar ataxia","omia_group_id":2097,"omia_phene_id":4009,"omia_record_id":"OMIA:002097-9615","publication_ids":[117522,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4009","source_release":"retrieved-2026-09-12","summary":"Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes an ataxia form that is caused by genetic variants in the ITPR1 gene. Phenotypically related ataxias in dogs may also be caused by variants in more than 30 other genes (Cocostîrc et al. 2023; Stee et al. 2023). Thus, locus heterogeneity for this phenotype must be considered.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"}],"characterised":true,"characterised_year":2017,"clinical_features":"Bauer et al. (2017) \"describe a novel non-epidermolytic form of ichthyosis in a German Shepherd. In this breed, until now, no ichthyosis cases have been reported in the scientific literature. . . . Dermatological examination revealed generalized hypotrichosis and focal areas of alopecia with generalized severe exfoliation of greyish scales and mild erythema. Comedones were seen on the ventral abdomen and in the perivulvar area.\"","defect":true,"group_name":"Ichthyosis, ASPRV1-related","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2099,"omia_phene_id":4011,"omia_record_id":"OMIA:002099-9615","publication_ids":[117528,122810,123125,123600,127208],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4011","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Papillon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200985"}],"characterised":true,"characterised_year":2017,"clinical_features":"Tsuboi et al. (2017) investigated three affected Papillon dogs: \"The affected dogs initially developed intention tremor and hypermetria at a very young age, and the symptoms gradually progressed to cerebellar ataxia, tetraplegia, blindness, and deafness.\" Onset of disease was between 13-16 weeks of age and death occurred between 7 to 8 month of age.","defect":true,"group_name":"Neuroaxonal dystrophy, PLA2G6-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2105,"omia_phene_id":4026,"omia_record_id":"OMIA:002105-9615","publication_ids":[62729,108320,109271,109272,109273,117594,121363,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4026","source_release":"retrieved-2026-09-12","summary":"Neuroaxonal dystrophy in Papillon dogs was fist reported in 1995 in England [Franklin et al., 19851], and has since been reported in several other countries. Tsuboi et al. (2017) identified the likely causal variant.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Belgian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200144"}],"characterised":true,"characterised_year":2017,"clinical_features":"The primary clinical sign consisted of a loss of coordination and generalized ataxic gait starting at 4 weeks of age. SDCA2 affected dogs also had seizures, showed pacing and circling and developed central blindness. Due to the rapid progression of the neurological signs, most puppies were euthanized at 6 weeks of age. One affected puppy died at 6.5 weeks of age during a seizure (Mauri et al. 2017).","defect":true,"group_name":"Ataxia, cerebellar, ATP1B2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Spongy degeneration with cerebellar ataxia 2","omia_group_id":2110,"omia_phene_id":4033,"omia_record_id":"OMIA:002110-9615","publication_ids":[117636,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4033","source_release":"retrieved-2026-09-12","summary":"Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes an ataxia form that is caused by a genetic variant in the ATP1B2 gene. Phenotypically related ataxias in dogs may also be caused by variants in more than 30 other genes (Cocostîrc et al. 2023; Stee et al. 2023). Thus locus heterogeneity for this phenotype must be considered.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Chow Chow (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200361"},{"name":"Lagotto Romagnolo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200804"}],"characterised":true,"characterised_year":2001,"clinical_features":"","defect":true,"group_name":"Osteogenesis imperfecta, COL1A2-related","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2112,"omia_phene_id":4037,"omia_record_id":"OMIA:002112-9615","publication_ids":[96732,117798,119946],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4037","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Stereotypical hypersociability","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2115,"omia_phene_id":4042,"omia_record_id":"OMIA:002115-9615","publication_ids":[117678],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4042","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Appenzeller Sennenhund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200068"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2017,"clinical_features":"Bauer et al. (2017):\"No abnormalities were found on the affected daughter during general physical examination except a stunted growth. Linear hyperplastic and partially alopecic lesions, covered with thick brown scales and clusters of dilated follicular ostia were the most prominent dermatological features (Figure 1). The lesions were distributed along Blaschko’s lines in a bilateral rather symmetrical fashion and were more evident on the limbs, the head, the neck and the dorsal trunk. The abdominal and inguinal skin appeared normal. Frond like hyperkeratotic lesions at the margin of all the pawpads with occasional horn-like projections were considered the most probable cause of the visible lameness. Cytological examination of the linear hyperplastic lesions, revealed the presence of variable numbers of coccoid bacteria and a large number of Malassezia yeasts which were suspected to substantially contribute to the pruritus and the offensive odor. Results of the blood tests and urinalysis were unremarkable.\" De Lucia et al. (2019): \"Alopecic scaly plaques following the Blaschko’s lines on the limbs, the head, the dorsal neck and the trunk, and severe foot pads hyperkeratosis were the most relevant lesions\"","defect":true,"group_name":"Verrucous epidermal keratinocytic nevi","inheritance":{"code":"XLSD","name":"X-linked incomplete dominant"},"inheritance_text":"De Lucia et al. (2019): \"In heterozygous females, with an X-linked dominant or semidominant genodermatosis, . . . random inactivation of the X chromosome is responsible for the development of normal and abnormal skin segments distributed in a mosaic pattern. In fact, normal skin derives from progenitor cells in which the X-chromosome carrying the pathogenic variant has been inactivated, whereas stripes or patches of abnormal skin result from progenitor cells after the inactivation of the wild-type (normal) X-chromosome. X-linked cutaneous mosaicism can be heritable and is normally observed in heterozygous females.\" The trait is embryonic lethal in hemizygous mutant males (Bauer et al. 2017).","mondo_terms":[],"name":"Many alias names exist for the phenotype. They include congenital cornification disorder; CHILD nevi; CHILD-like nevi; ILVEN.\r\nThe human phenotype resulting from NSDHL loss-of-function variants is termed congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome). CHILD syndrome is characterized by epidermal nevi and striking unilateral limb defects. Animals (dogs, cats, mice) with NSDHL variants have similar epidermal nevi, but so far were never reported to also have the limb defects seen in human CHILD syndrome.","omia_group_id":2117,"omia_phene_id":4047,"omia_record_id":"OMIA:002117-9615","publication_ids":[80807,112326,117685,119091,120916,121005,122810,123125,125653,127389,132518],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4047","source_release":"retrieved-2026-09-12","summary":"De Lucia et al. (2019): \"Veterinary clinicians should be aware of cutaneous mosaicism and consider X-linked genodermatoses when seeing female cases with segmental cutaneous diseases like the one following the Blaschko’s lines.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Welsh Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201411"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pectinate ligament dysplasia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2118,"omia_phene_id":4048,"omia_record_id":"OMIA:002118-9615","publication_ids":[116871],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4048","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Melanoma, congenital","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":634,"omia_phene_id":4049,"omia_record_id":"OMIA:000634-9615","publication_ids":[117692,127377,127831],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4049","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Leonberger (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200819"}],"characterised":true,"characterised_year":2017,"clinical_features":"","defect":true,"group_name":"Polyneuropathy, GJA9-related","inheritance":{"code":"AID","name":"Autosomal incomplete dominant"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2119,"omia_phene_id":4050,"omia_record_id":"OMIA:002119-9615","publication_ids":[109480,117701,125653,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4050","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Alaskan Malamute (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200017"},{"name":"Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200638"}],"characterised":true,"characterised_year":2010,"clinical_features":"In Greyhounds, this polyneuropathy becomes evident in juvenile dogs between the ages of three and nine months (Drögemüller et al., 2010). Early clinical features include exercise intolerance (e.g. shaking and collapse after exercise), abnormal gait (e.g. bunny hopping and high stepping), while ataxia, dysphonia and severe muscle atrophy were associated with later clinical features (Drögemüller et al., 2010). Neurological examination may reveal progressive lower motor neuron signs, including progressive ataxia and tetraparesis, delayed proprioceptive paw positioning, distal limb muscle atrophy, hyporeflexia, and inspiratory stridor (high pitched noise during inspiration) (Drögemüller et al., 2010).\r\n[IT thanks DVM student Anna Johnston, who provided the basis of this contribution in April 2022.]","defect":true,"group_name":"Polyneuropathy, NDRG1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2120,"omia_phene_id":4052,"omia_record_id":"OMIA:002120-9615","publication_ids":[77412,109112,109397,112426,113548,117586,121111,122998,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4052","source_release":"retrieved-2026-09-12","summary":"The polyneuropathy of juvenile Greyhounds shows clinical similarities to the genetically heterogeneous Charcot-Marie-Tooth disease in humans.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Boston Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200204"},{"name":"Lagotto Romagnolo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200804"}],"characterised":true,"characterised_year":2017,"clinical_features":"Cox et al. (2017): \"marked muscle weakness and atrophy in the shoulder and hips during puppyhood\"\r\nBrunetti et al. (2023): \"An 8-month-old female Lagotto Romagnolo dog was presented with a 1-month history of an initial severe reluctance to move ... , the dog rapidly ... [progressed] to a marked stiff gait. Dysphagia, dysphonia and polyuria and polydipsia appeared in the last five days prior to the examination. ... The dog showed a progressive rapid worsening of the clinical signs leading in approximately one month to a severe non-ambulatory tetraparesis and severe dysphagia.\"","defect":true,"group_name":"Muscular dystrophy, limb-girdle, type R6 (LGMDR6)","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0011028","iri":"http://purl.obolibrary.org/obo/MONDO_0011028","label":"autosomal recessive limb-girdle muscular dystrophy type 2F"}],"name":"","omia_group_id":2122,"omia_phene_id":4053,"omia_record_id":"OMIA:002122-9615","publication_ids":[109107,110807,117713,125725],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4053","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":true,"characterised_year":2000,"clinical_features":"Campbell et al. (2000): \"a 12-week-old male golden retriever puppy of small stature ... had multiple fractures in various stages of healing affecting the ribs and nearly every long bone. Dentinogenesis imperfecta was also present.\"","defect":true,"group_name":"Osteogenesis imperfecta, type III, COL1A1-related","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2126,"omia_phene_id":4063,"omia_record_id":"OMIA:002126-9615","publication_ids":[75740,94587],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4063","source_release":"retrieved-2026-09-12","summary":"See also entries for osteogenesis imperfecta for which likely causal variants have so far not been identied: 'OMIA:000754-9615 : Osteogenesis imperfecta, generic' or types of the disease caused by variants in other genes, e.g., \"OMIA:002112-9615 Osteogenesis imperfecta, COL1A2-related' and 'OMIA:001483-9615 Osteogenesis imperfecta, SERPINH1-related'","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"German Spitz (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200585"}],"characterised":true,"characterised_year":2017,"clinical_features":"The three affected German Spitz puppies reported in Caduff et al. (2017) showed a light brown (hazel) coat colour and blue eyes. Pigmentation of the coat and eyes became slightly darker with age. The owner reported that the affected puppies used to squint in bright sunlight (photophobia) and had difficulties to perceive hand signals in bright sunlight. Photophobia and mild to moderate visual deficits are also common in human patients with oculocutaneous albinism type II.","defect":true,"group_name":"Oculocutaneous albinism, OCA2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0008746","iri":"http://purl.obolibrary.org/obo/MONDO_0008746","label":"oculocutaneous albinism type 2"}],"name":"","omia_group_id":2130,"omia_phene_id":4067,"omia_record_id":"OMIA:002130-9615","publication_ids":[117779,122792,124017],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4067","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Eskimo Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200046"},{"name":"American Pit Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200054"},{"name":"Borzoi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200197"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Cockapoo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200370"},{"name":"English Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200495"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Pomeranian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201043"},{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"},{"name":"Rat Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201125"},{"name":"Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201406"}],"characterised":true,"characterised_year":2017,"clinical_features":"Jaffey et al. (2017): \"Arterial blood gas analysis with co-oximetry identified methemoglobinemia concurrent with normal arterial oxygen tension at FIO2 = 0.21, which supported a nonrespiratory cause for cyanosis, tachypnea, and exercise intolerance.\"","defect":true,"group_name":"Methaemoglobinaemia, CYB5R3-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009606","iri":"http://purl.obolibrary.org/obo/MONDO_0009606","label":"methemoglobinemia due to deficiency of methemoglobin reductase"}],"name":"NADH cytochrome B5 reductase deficiency, hereditary canine methaemoglobinaemia.","omia_group_id":2131,"omia_phene_id":4073,"omia_record_id":"OMIA:002131-9615","publication_ids":[117789,117890,121874,123548,125653,127595,127596,127597,127598,132518],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4073","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"}],"characterised":true,"characterised_year":2017,"clinical_features":"","defect":true,"group_name":"Lethality, BTBD17-related","inheritance":{"code":"RL","name":"Autosomal recessive lethal"},"inheritance_text":"Meyers-Wallen et al. (2017): \"Because genotyping results at the 6048201 locus indicated that the G+G+ [homozygous for the G insertion] genotype was uncommon in XX DSD purebred pet dogs (3% G+G+, . . . ), but common in mixed breed XX DSD in the model pedigree (83% G+G+, . . . ), we hypothesized this genotype was deleterious in purebred dogs. Therefore, we genotyped pedigrees from purebred and crossbred breeding experiments in which the probability of G+G+ offspring varied from 0.25–0.5 . . . . All offspring were born alive and birth weights within the same litter were similar. None of the offspring were G+G+ genotype, including crossbred offspring sired by males from the model pedigree that had previously produced G+G+ and G+/- XX DSD offspring (sires C734 and C752, . . . ). These results indicated that embryonic lethality was associated with the G+G+ genotype in the GSHP genetic background.\"","mondo_terms":[],"name":"","omia_group_id":2132,"omia_phene_id":4075,"omia_record_id":"OMIA:002132-9615","publication_ids":[117797,125653,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4075","source_release":"retrieved-2026-09-12","summary":"See also 'OMIA:000901-9615 : XX difference of sexual development, generic in Canis lupus familiaris' for the association of the BTBD17 variant with differences in sexual development.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Nova Scotia Duck Tolling Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200964"}],"characterised":true,"characterised_year":2017,"clinical_features":"Brown et al. (2017): \"Relative to the unaffected dog, the mildly SD-affected NSDTR has cranial bowing of the radius. Radiographic changes in the more severely SD-affected NSDTR include moderate cranial bowing of the radius, physeal widening, and incongruity of the elbow joint with the shape of the semilunar notch of the ulna being elongated.\"","defect":true,"group_name":"Skeletal dysplasia, FGF4-retrogene-related","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"Bannasch et al. (2022): \"Using individual measurements of height at the shoulder, back length, head width, thorax depth and width, and thoracic limb measurements, we evaluated the combined effects of FGF4 retrogenes [FGF4L1 and FGF4L2] within\" two breeds that segregate both retrogenes, namely Alpine Dachsbracke and the Schweizer Niederlaufhund. They found that \"both retrogenes had significant effects reducing height at the shoulders and antebrachial length, with FGF4L1 having a much greater effect than FGF4L2. FGF4L1 alone influenced the degree of carpal valgus and FGF4L2 alone increased head width. Neither retrogene had an effect on thorax width or depth.\"","mondo_terms":[],"name":"","omia_group_id":2133,"omia_phene_id":4076,"omia_record_id":"OMIA:002133-9615","publication_ids":[3989,117799,117800,117801,119746,123130],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4076","source_release":"retrieved-2026-09-12","summary":"\"Two FGF4 retrogenes (FGF4L1 on chromosome 18 and FGF4L2 on chromosome 12) have been identified to cause dwarfism across many dog breeds. Some breeds are nearly homozygous for both retrogenes (e.g., Dachshunds) and others are homozygous for just one (e.g., Beagles and Scottish Terriers)\" (Bannasch et al., 2022)","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200034"}],"characterised":true,"characterised_year":2016,"clinical_features":"Evans et al. (2016): \"Affected dogs could independently ambulate, had generalized atrophy, and the myopathy was relatively non-progressive (Supplemental video). Atrophy of the cervical and dorsal thoracic limb muscles was noted with bilateral hypertrophy of the triceps muscles. Serum creatine kinase (CK) activities were mildly elevated. Electromyography (EMG) revealed spontaneous electrical activity, consisting mainly of fibrillation potentials, within the proximal appendicular muscles of the thoracic limbs and the cervical paraspinal musculature. Motor nerve conduction velocity (MNCV) testing showed a mild decrease in the latency of the tibial and ulnar nerves. Respiratory difficulties were not present.\"","defect":true,"group_name":"Nemaline myopathy, NEB-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009725","iri":"http://purl.obolibrary.org/obo/MONDO_0009725","label":"nemaline myopathy 2"}],"name":"","omia_group_id":2137,"omia_phene_id":4083,"omia_record_id":"OMIA:002137-9615","publication_ids":[117870],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4083","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cerebral amyloid angiopathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2138,"omia_phene_id":4084,"omia_record_id":"OMIA:002138-9615","publication_ids":[117881],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4084","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"German Hunting Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200568"}],"characterised":true,"characterised_year":2018,"clinical_features":"Lepori et al. (2018): Clinical signs included \"exercise induced weakness, muscle pain, and suspected rhabdomyolysis\". Affected dogs have elevated serum creatine kinase (CK) and alanine aminotransferase (ALT) activities. An acylcarnitine profile from blood revealed an elevated tetradecenoylcarnitine (C14:1) peak suggesting the diagnosis of acyl-CoA dehydrogenase very long chain deficiency (ACADVLD).","defect":true,"group_name":"Exercise induced metabolic myopathy","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2140,"omia_phene_id":4089,"omia_record_id":"OMIA:002140-9615","publication_ids":[117897,120283,123814,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4089","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Akita (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200010"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Macrothrombocytopenia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2143,"omia_phene_id":4093,"omia_record_id":"OMIA:002143-9615","publication_ids":[117922,125867],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4093","source_release":"retrieved-2026-09-12","summary":"Hayakawa et al. (2018) provided the first report of this disorder in dogs, in 3 unrelated Akitas.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200255"},{"name":"Miniature Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200882"}],"characterised":true,"characterised_year":2018,"clinical_features":"\"Affected puppies show characteristic skin lesions on the feet and on the face, diarrhea, bronchopneumonia, and a failure to thrive. The skin lesions consist of erythema and tightly adherent scales, erosions or ulcerations with crusts involving primarily the feet, distal limbs, elbows, hocks, and muzzle. Later on, hyperkeratosis of the footpads and deformation of the nails occur. LAD affected dogs also show a coat color dilution in pigmented skin areas. An abnormally arched hard palate impacted with decayed, malodorous food is a characteristic clinical marker for the disease (Jezyk et al. 1986; McEwan, 1990; McEwan et al. 2000). LAD dogs are immunodeficient with a reduction in serum IgA levels and frequently suffer from skin infections with Malassezia or Candida (McEwan et al. 2001; McEwan et al. 2003). Affected puppies typically die before they reach an age of two years, either due to infections such as bronchopneumonia or because they are euthanized when their paw pad lesions become very severe and painful. They grow slower than their non-affected littermates and at the age of one year have about half the body weight and size of an unaffected dog (McEwan et al. 2000).\" [This summary was copied from Bauer et al. 2018] Although the clinical signs resemble zinc deficiency, it is not clear at all whether the disease has any relation to zinc metabolism (Bauer et al. 2018). Oral supplementation with zinc or intravenous zinc injections did not improve the condition (Jezyk et al. 1986).","defect":true,"group_name":"Acrodermatitis, lethal, MKLN1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Lethal acrodermatitis","omia_group_id":2146,"omia_phene_id":4098,"omia_record_id":"OMIA:002146-9615","publication_ids":[21218,111263,111278,111279,111280,111281,111282,111283,111284,117929,123125,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4098","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"}],"characterised":true,"characterised_year":2019,"clinical_features":"","defect":true,"group_name":"Deafness, bilateral, and vestibular dysfunction, MYO7A-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"DINGS","omia_group_id":2148,"omia_phene_id":4109,"omia_record_id":"OMIA:002148-9615","publication_ids":[27290,107256,113443,119195,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4109","source_release":"retrieved-2026-09-12","summary":"See also: OMIA:002196-9615 : Deafness, unilateral and vestibular dysfunction, PTPRQ-related  in Canis lupus familiaris (dog)","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Irish Soft Coated Wheaten Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200703"}],"characterised":true,"characterised_year":2018,"clinical_features":"","defect":true,"group_name":"Microphthalmia, isolated, with coloboma","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"Kaukonen et al. (2018): \"The four affected litters are related in a single pedigree, with a transmission pattern suggesting an autosomal recessive mode of inheritance\" (Kaukonen et al., 2018). However, the disease \"manifests only if both the dam and the offspring carry homozygous mutation\", i.e. this is a \"Recessive RBP4 defect with maternal transmission\" (Kaukonen et al., 2018)","mondo_terms":[{"id":"MONDO:0014635","iri":"http://purl.obolibrary.org/obo/MONDO_0014635","label":"microphthalmia, isolated, with coloboma 10"}],"name":"Microphthalmos","omia_group_id":2151,"omia_phene_id":4118,"omia_record_id":"OMIA:002151-9615","publication_ids":[118034,125219,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4118","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"}],"characterised":true,"characterised_year":2018,"clinical_features":"Lucot et al. (2018):\"Rottweiler NAD was first reported in the early 1980s and is characterized by a young adult age of onset with mild progression of clinical signs, typically including postural deficits, ataxia, hypermetria, intention tremor and nystagmus\". Some clinical signs will develop at an older age (3-5 years old), these include head bobbing, head tremor, nystagmus and menace deficit (Chrisman, 1992). [IT thanks DVM student Hedia Chan for contributions to this entry in April 2022]","defect":true,"group_name":"Neuroaxonal dystrophy, VPS11-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2152,"omia_phene_id":4119,"omia_record_id":"OMIA:002152-9615","publication_ids":[109274,109275,109276,109277,118048,123290,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4119","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Schnauzer-Beagle Cross (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201186"}],"characterised":true,"characterised_year":2011,"clinical_features":"Signs include fetal akinesia, scoliosis, arthrogryposis, cerebellar hypoplasia, pulmonary hypoplasia, respiratory failure, thinning of the patellar tendon, and spinal cord hypoplasia. The condition is lethal (Fyfe et al., 2010). ","defect":true,"group_name":"Neuroaxonal dystrophy, MFN2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Fetal-onset neuroaxonal dystrophy ","omia_group_id":2153,"omia_phene_id":4120,"omia_record_id":"OMIA:002153-9615","publication_ids":[109269,110228,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4120","source_release":"retrieved-2026-09-12","summary":"Neuroaxonal dystrophy is a disorder of CNS development with motor neuron degeneration characterized by fetal-onset neuromuscular dysfunction causing joint contracture and respiratory failure at birth. Affected animals present with scoliosis, arthrogryposis, cerebellar, pulmonary, and spinal cord hypoplasia, respiratory failure, and thinning of the patellar tendon. The condition is lethal, and was first observed in a colony of laboratory dogs following the mating of a purebred Giant Schnauzer with a Beagle. \r\nEdited by John C. Fyfe, D.V.M., Ph.D.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Karelian Bear Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200754"}],"characterised":true,"characterised_year":2019,"clinical_features":"Kyöstilä et al. (2019): \"The disease was recognized in seven KBD puppies with a variable presentation of skeletal hypomineralization, growth retardation, seizures and movement difficulties\"","defect":true,"group_name":"Hypophosphatasia","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2162,"omia_phene_id":4144,"omia_record_id":"OMIA:002162-9615","publication_ids":[118527],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4144","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Galgo Español (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200557"},{"name":"Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200638"},{"name":"Magyar Agár (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200842"},{"name":"Whippet (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201421"}],"characterised":false,"characterised_year":null,"clinical_features":"Brunner et al. (2019): \"BTS is characterized by bilateral hair loss on the caudal and lateral thighs, but alopecia may extend to the distal hind legs, the ventral abdomen and the chest. In some cases even the ventral neck is involved. Dogs of any age and sex may be affected.\"","defect":true,"group_name":"Bald thigh syndrome","inheritance":null,"inheritance_text":"Brunner et al. (2019) concluded \"that BTS [bald thigh syndrome] is caused by structural HS [hair shaft] defects which are associated with the downregulation of genes and proteins essential for HS differentiation and HS assembly. The underlying genetic defect has not yet been identified and we suggest a complex mode of inheritance.\"","mondo_terms":[],"name":"","omia_group_id":2168,"omia_phene_id":4152,"omia_record_id":"OMIA:002168-9615","publication_ids":[118633,118634,118635],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4152","source_release":"retrieved-2026-09-12","summary":"Brunner et al. (2019): \"Bald thigh syndrome (BTS) is a hair loss disorder seen in Greyhounds and other sighthound breeds into which the Greyhound has been introgressed such as Whippets, Galgo Español, and Magyar Agár.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Sudden acquired retinal degeneration syndrome, SARDS","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2169,"omia_phene_id":4153,"omia_record_id":"OMIA:002169-9615","publication_ids":[118636,118637,118638,118639,118640,118641,118642,118643,118644,118645,118646,118647,118648,118649,118650,124625,125462],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4153","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Eye colour, blue","inheritance":null,"inheritance_text":"Deane-Coe et al. (2018): \"The high proportion of blue-eyed heterozygotes in our analyses (53% of blue-eyed dogs) suggests that the duplication, if causal, is dominant in its phenotypic effect. However, the existence of 46 brown-eyed heterozygotes with similarly elevated Δ log R (P = 0.35 comparing blue and brown heterozygote distributions) suggests that one or more additional genetic factors may modify or mask the duplication’s effect on eye color (Fig 3; S8 Fig). This effect is not completely explained by an individual’s genotype at four previously characterized pigmentation genes (A, E, B, and K loci; S6 Table), although carriers of the duplication that also carry at least one copy of the dominant melanistic mask (Em) allele are significantly more likely to have brown eyes than duplication carriers without melanistic mask (P = 0.0018).\"","mondo_terms":[],"name":"","omia_group_id":1868,"omia_phene_id":4155,"omia_record_id":"OMIA:001868-9615","publication_ids":[118655],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4155","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ameloblastoma","inheritance":{"code":"SMu","name":"Somatic mutation"},"inheritance_text":"","mondo_terms":[],"name":"Canine acanthomatous ameloblastomas (CAA)","omia_group_id":2171,"omia_phene_id":4158,"omia_record_id":"OMIA:002171-9615","publication_ids":[118584,119157,124278,126177,127367,128506],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4158","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Norwich Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200962"}],"characterised":true,"characterised_year":2018,"clinical_features":"Dillard et al. (2018) reported \"a novel lethal ciliopathy in Norwich Terrier puppies that was diagnosed at necropsy and characterized as diffuse cystic renal disease and hepatic fibrosis\"","defect":true,"group_name":"Diffuse cystic renal dysplasia and hepatic fibrosis","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Dillard et al. (2018): \"The pedigree of the affected puppies was suggestive of an autosomal recessive inheritance\"","mondo_terms":[],"name":"","omia_group_id":2173,"omia_phene_id":4160,"omia_record_id":"OMIA:002173-9615","publication_ids":[118659],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4160","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Pekingese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200994"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"}],"characterised":true,"characterised_year":2018,"clinical_features":"Soler Arias et al. (2018): \"The ITD was recognized by the absence of uptake of technetium-99m in the salivary glands (sg) and goiter observed by scintigraphy. In the same scan, radiopharmaceutical uptake was found in the anterior mediastinum of both [affected] dogs and in the right axillary lymph node in the oldest dog. A follicular thyroid carcinoma was diagnosed by histopathology after thyroidectomy of the older dog. An adenomatous goiter with ectopic thyroid tissue, and degenerative changes in myocardium were the findings after necropsy in the youngest dog.\"","defect":true,"group_name":"Hypothyroidism, congenital dyshormonogenic, with goiter, SLC5A5-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Soler Arias et al. (2018): \"Congenital dyshormonogenic hypothyroidism with goiter in this family [of Shih-Tzu] is an autosomal recessive trait.\"","mondo_terms":[{"id":"MONDO:0020716","iri":"http://purl.obolibrary.org/obo/MONDO_0020716","label":"familial thyroid dyshormonogenesis 1"}],"name":"","omia_group_id":2174,"omia_phene_id":4161,"omia_record_id":"OMIA:002174-9615","publication_ids":[118661,124288],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4161","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Akita (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200010"},{"name":"American Akita (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200027"}],"characterised":true,"characterised_year":2019,"clinical_features":"","defect":true,"group_name":"Amelogenesis imperfecta, ACP4-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0015008","iri":"http://purl.obolibrary.org/obo/MONDO_0015008","label":"amelogenesis imperfecta, type 1J"}],"name":"","omia_group_id":2177,"omia_phene_id":4164,"omia_record_id":"OMIA:002177-9615","publication_ids":[118813,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4164","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2019,"clinical_features":"Mäkeläinen et al. (2019): \"The affected sib-pair . . . was visually impaired under both daylight and dimlight conditions when examined at 10 years of age. Their pupils were dilated under daylight conditions and pupillary light and dazzle reflexes were abnormal, whereas menace responses were present. On indirect ophthalmoscopy, the tapetal reflectivity varied between normal to grayish hyporeflection when the indirect ophthalmoscopy lens was tilted slightly back and forth, both in the visual streak, as well as in the more peripheral parts of the tapetal fundus in both eyes of the affected dogs. The visual streak is an area of high photoreceptor cell density in the canine retina, located superior to the optic disc and extending horizontally from the nasal to the temporal region . . . . Furthermore, a mild to moderate vascular attenuation was observed, as seen in the fundus photograph, taken at the age of 10 years, of the affected male (LAB4) and compared to a fundus photograph of an unaffected, age-matched Labrador retriever dog (LAB27) . . . . These ophthalmoscopic findings were symmetrical between the eyes of the affected dogs, diffusely spread over the tapetal fundus and not strictly confined to the visual streak or area centralis.\" Ekesten et al. (2022) studied \"retinal appearance and morphology in Labrador retrievers (LRs) heterozygous and homozygous for an ABCA4 loss-of-function mutation. ... Abnormal appearance and morphology in the fovea equivalent are present in juvenile ABCA4InsC/InsC. In the older affected LRs, the visual streak and then the peripheral retina also develop an abnormal appearance. Vision deteriorates slowly, but some vision is retained throughout life. Older heterozygotes may show a mild retinal phenotype but no obvious visual impairment.\"","defect":true,"group_name":"Stargardt disease 1","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0019353","iri":"http://purl.obolibrary.org/obo/MONDO_0019353","label":"Stargardt disease"}],"name":"Retinal atrophy - generalized; retinal atrophy, ABCA4-related","omia_group_id":2179,"omia_phene_id":4167,"omia_record_id":"OMIA:002179-9615","publication_ids":[111394,111397,118863,118867,123549,125219,129719,133084],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4167","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200034"},{"name":"American Pit Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200054"},{"name":"American Staffordshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200055"},{"name":"Boston Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200204"},{"name":"Dogue de Bordeaux (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200450"},{"name":"English Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200485"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Pug (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201089"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"},{"name":"Staffordshire Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201296"}],"characterised":true,"characterised_year":2018,"clinical_features":"Mansour et al. (2018): \"One group of three breeds (Bulldog, French Bulldog and Boston Terrier) is characterized by a wide head, short muzzle, widely spaced eyes, small size and abnormalities of the vertebral bones of the back and tail. These breeds are referred to as the screw tail breeds since the characteristic that is unique and easy to see in these breeds is their shortened and kinked tails.\" Niskanen et al. (2021): \"The DVL2 variant segregates in a recessive manner with caudal vertebral malformations and has incomplete and variable penetrance for thoracic vertebral malformations (Mansour et al. 2018). ... With CT examinations in American Staffordshire Terriers, we confirmed that the DVL2 allele is associated with caudal vertebral malformations and a brachycephalic phenotype. We also hypothesize that the variant may be linked to additional health conditions, including brachycephalic obstructive airway syndrome and congenital heart defects.\"","defect":true,"group_name":"Screw tail","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Mansour et al. (2018): \"Segregation of the caudal vertebral column malformations and genotype at DVL2 was consistent with a fully penetrant recessive mode of inheritance in Boston Terriers, Shih Tzus, Pit Bulls and mixed breeds ... . Segregation of the thoracic vertebral malformations was consistent with a recessive mode of inheritance with variable penetrance between breeds. In order to evaluate the molecular contribution to brachycephalic skull shape, the DVL2 mutant breeds were genotyped for the previously identified brachycephaly associated Line insertion affecting SMOC 2 splicing. Bulldogs and French Bulldogs were homozygous for the variant and the Boston Terriers had an allele frequency of 90.3% ... . Similar allele frequency for the BMP3 missense mutation was also reported for these three breeds indicating that they are homozygous or have a high allele frequency for three mutations that affect head shape [Schoenebeck et al., 2012].","mondo_terms":[],"name":"Robinow-like syndrome; curly tail","omia_group_id":2186,"omia_phene_id":4174,"omia_record_id":"OMIA:002186-9615","publication_ids":[108432,113304,114090,118885,118901,118902,121263,123340,127232,127287,127576,127577,127833,129493,133323],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4174","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2019,"clinical_features":"Jolly et al. (2019): \"A neurological disease was investigated in 3 German Shepherd pups from the same litter that failed to grow normally, appeared stiff, were reluctant to move, and were deaf. They developed intermittent seizures and ataxia and had proprioceptive defects.\"","defect":true,"group_name":"Mannosidosis, beta","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Jolly et al. (2019): \"The variant was validated using PCR and Sanger sequencing of DNA from related and unrelated dogs. The 2 parents and 1 littermate were heterozygous for the mutation, the 2 affected dogs (case Nos. 1 and 2) were homozygous for the mutation, and 2 other dogs from the same breeder but of different parentage were homozygous wild-type . . . . An unrelated German Shepherd dog was also homozygous wild-type.\"","mondo_terms":[],"name":"","omia_group_id":626,"omia_phene_id":4184,"omia_record_id":"OMIA:000626-9615","publication_ids":[119060,119811,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4184","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Alpine Dachsbracke (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200023"}],"characterised":true,"characterised_year":2019,"clinical_features":"Letko et al. (2019): \"Clinical signs of cerebellar dysfunction in the four puppies (one male, three females) were observed immediately when their normal littermates started to move in a coordinated fashion, so after approximately three weeks of age. The affected dogs exhibited ataxia, tremors, loss of balance, falling and other movement problems . . . . Furthermore, the dog breeder reported that the vision of the affected dogs might be impaired. The severity of the clinical signs resulted in euthanasia of all cases by the age of 10–12 weeks.\"","defect":true,"group_name":"Ataxia, spinocerebellar, SCN8A-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2194,"omia_phene_id":4197,"omia_record_id":"OMIA:002194-9615","publication_ids":[119209,125285,125653,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4197","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Welsh Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201411"}],"characterised":true,"characterised_year":2019,"clinical_features":"Yost et al. (2019): \"Clinical evaluation of the proband and four littermates demonstrated echocardiographically evident left ventricular dilation, systolic dysfunction and ventricular arrhythmias . . . . One affected female littermate is still alive at 44 months of age and is managed with routine medical care including an ace inhibitor (enalapril), inodilator (pimobendan) and an antiarrhythmic (sotalol).\"","defect":true,"group_name":"Cardiomyopathy, dilated, PLN-related","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0012362","iri":"http://purl.obolibrary.org/obo/MONDO_0012362","label":"dilated cardiomyopathy 1P"}],"name":"","omia_group_id":2195,"omia_phene_id":4198,"omia_record_id":"OMIA:002195-9615","publication_ids":[119129,122775,123248,123426,125623],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4198","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"}],"characterised":true,"characterised_year":2018,"clinical_features":"","defect":true,"group_name":"Deafness, unilateral and vestibular dysfunction, PTPRQ-related'","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2196,"omia_phene_id":4199,"omia_record_id":"OMIA:002196-9615","publication_ids":[117997,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4199","source_release":"retrieved-2026-09-12","summary":"See also: OMIA:002148-9615 : Deafness, bilateral, and vestibular dysfunction, MYO7A-related ","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":true,"characterised_year":2019,"clinical_features":"","defect":false,"group_name":"Coat colour, phaeomelanin dilution, MFSD12-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"This entry describes the Intensity (I) locus; sometimes called the Intense (Int) locus","omia_group_id":2197,"omia_phene_id":4200,"omia_record_id":"OMIA:002197-9615","publication_ids":[108339,109460,119226,119227,119228,119229,119267,121693,122792,124017,125653,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4200","source_release":"retrieved-2026-09-12","summary":"Hédan et al. (2019): \"Thanks to a multiple step GWAS approach, we confirmed that solid white coat color in dogs may result from the absence of eumelanin (e/e at the MC1R locus) and an extreme dilution of phaeomelanin, confirming the hypothesis of Sponenberg and Rothschild [2001] on the existence of an I locus and later, the work of Schmutz and Berryere [2007; J. Heredity].\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Giant Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200604"}],"characterised":true,"characterised_year":2019,"clinical_features":"","defect":true,"group_name":"Retinal atrophy, progressive, NECAP1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2198,"omia_phene_id":4202,"omia_record_id":"OMIA:002198-9615","publication_ids":[119251,125219,125653,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4202","source_release":"retrieved-2026-09-12","summary":"See also OMIA:003061-9615 : Leukoencephalomyelopathy, NECAP1-related in Canis lupus familiaris (dog) for a different phenotype caused by variants in the same gene.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Coat, double vs single","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2199,"omia_phene_id":4203,"omia_record_id":"OMIA:002199-9615","publication_ids":[119270,119271],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4203","source_release":"retrieved-2026-09-12","summary":"As summarised by Whitaker and Ostrander (2019), \"Double-coated dogs have two layers of hair: the courser primary or guard hairs which aid in the prevention of superficial injuries, repel excess moisture, and provide the primary coloration and texture patterns; and the more numerous secondary hairs or undercoat which are soft and downy in appearance and protect dogs from extreme temperatures. Wolves, the closest living ancestor to the modern domestic dog . . . , also have both a primary coat and undercoat, and this is assumed to be the ancestral trait. Single-coated dog breeds only have primary hairs and thus usually shed less because the undercoat is more prone to falling out with the change of season. There are roughly equal numbers of breeds with double- and single-coats distributed throughout the 161 breeds for which extensive phylogenetic studies have been done [Parker et al., 2017]. Some breed groups, such as those of Alpine origin, have predominantly one phenotype, in this case the double coat.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200038"},{"name":"Boston Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200204"},{"name":"English Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200485"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"},{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"},{"name":"Italian Cane Corso (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200712"},{"name":"Lhasa Apso (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200824"},{"name":"Neapolitan Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200930"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Eyelid gland, third, prolapse of","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Cherry eye","omia_group_id":359,"omia_phene_id":4208,"omia_record_id":"OMIA:000359-9615","publication_ids":[119336,124104,125219,127247,127248,129248],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4208","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":false,"characterised_year":2019,"clinical_features":"Bauer et al. (2019): \"The dog was referred because of fragile skin that teared or bruised easily even from minor injuries, leading to severe wounds that healed poorly. According to the owner, the skin fragility had been present since the dog was a puppy. At the time of examination, the dog was 21 months old and appeared in a good general health condition. Neither wounds nor scars were present, but the skin was hyperextensible\".","defect":true,"group_name":"classic-like Ehlers-Danlos syndrome (clEDS), TNXB-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"As reported by Bauer et al. (2019): \"Each variant allele was transmitted from one of the case’s parents, consistent with compound heterozygosity.\"","mondo_terms":[{"id":"MONDO:0011670","iri":"http://purl.obolibrary.org/obo/MONDO_0011670","label":"Ehlers-Danlos syndrome due to tenascin-X deficiency"}],"name":"classic-like Ehlers-Danlos syndrome (clEDS), TNXB-related; Ehlers-Danlos syndrome, classic-like, 1","omia_group_id":2203,"omia_phene_id":4210,"omia_record_id":"OMIA:002203-9615","publication_ids":[119725,122707,122808,123365],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4210","source_release":"retrieved-2026-09-12","summary":"This phene has been renamed from \"Ehlers-Danlos syndrome, classic-like, 1\" to \"classic-like Ehlers-Danlos syndrome (clEDS), TNXB-related\" in OMIA on the basis of the review on human Ehlers-Danlos syndromes by Malfait et al. (2020) [2/6/2022].","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Collie Rough (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200376"}],"characterised":true,"characterised_year":2019,"clinical_features":"Hug et al. (2019): \"The clinical symptoms were similar to primary ciliary dyskinesia (PCD) [OMIA 001540-9615]. However, the affected dogs did not carry any known pathogenic PCD variants\"","defect":true,"group_name":"Recurrent inflammatory pulmonary disease","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Hug et al. (2019): \"Pedigree analysis suggested a recessive mode of inheritance\".","mondo_terms":[],"name":"","omia_group_id":2205,"omia_phene_id":4215,"omia_record_id":"OMIA:002205-9615","publication_ids":[119689],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4215","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Alaskan Malamute (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200017"}],"characterised":true,"characterised_year":2019,"clinical_features":"Anderegg et al. (2019): \"severe bronchial lung pattern and bronchiectasis on thoracic radiographs in both dogs . . . Direct rhinoscopy and bronchoscopy revealed hyperemic mucosa, medium to large amount of mucopurulent secretions along the upper and lower airway tracts and moderate to severe turbinate lysis in the nasal cavity in both dogs . . . Bronchoalveolar lavage fluid was compatible with chronic active purulent bronchopneumonia.\"","defect":true,"group_name":"Ciliary dyskinesia, primary, NME5-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2206,"omia_phene_id":4216,"omia_record_id":"OMIA:002206-9615","publication_ids":[119917],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4216","source_release":"retrieved-2026-09-12","summary":"Several types of primary ciliary dyskinesia exist. See also 'OMIA001540-9615 : Ciliary dyskinesia, primary, CCDC39-related in Canis lupus familiaris' and 'OMIA000573-9615 : Ciliary dyskinesia, primary, generic in Canis lupus familiaris'.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"}],"characterised":true,"characterised_year":2019,"clinical_features":"Gentilini et al. (2019): \"The affected dogs showed a platelet adhesion defect characterized by macrothrombocytopenia with variable platelet counts resembling human Bernard-Soulier syndrome (BSS). Furthermore, the lack of functional GPIb-IX-V was demonstrated by immunocytochemistry.\"","defect":true,"group_name":"Bernard-Soulier syndrome, type C","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009276","iri":"http://purl.obolibrary.org/obo/MONDO_0009276","label":"Bernard-Soulier syndrome"}],"name":"","omia_group_id":2207,"omia_phene_id":4217,"omia_record_id":"OMIA:002207-9615","publication_ids":[119918,125381],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4217","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":true,"characterised_year":2019,"clinical_features":"","defect":true,"group_name":"Eye malformation, SIX6-related","inheritance":{"code":"ADIP","name":"Autosomal dominant with incomplete penetrance"},"inheritance_text":"Hug et al. (2019): \"All cases traced back to the same male ancestor, but had quite diverse maternal lineages . . . . Seven out of 28 recorded puppies were affected and males and females were affected in equal proportions. As we could not identify any common ancestors in the maternal lines of the cases, we hypothesized an autosomal dominant inheritance with incomplete penetrance as the most likely mode of inheritance.\"","mondo_terms":[],"name":"Congenital eye malformation; microphthalmos","omia_group_id":2208,"omia_phene_id":4218,"omia_record_id":"OMIA:002208-9615","publication_ids":[119654,125219,129719,132386],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4218","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Alapaha Blue Blood Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200014"},{"name":"American Pit Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200054"},{"name":"Catahoula Leopard Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200298"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"}],"characterised":true,"characterised_year":2019,"clinical_features":"Jaffy et al. (2019): \"an 8‐week‐old male Doberman Pinscher . . . was presented to South Willamette Veterinary Clinic for evaluation of cutaneous wounds. The physical examination identified pain, hyper‐mobility and moderate effusion in the carpal, tarsal and stifle joints. In addition, bilateral ocular chemosis and elevation of the nictitating membranes were noted. The skin had several wounds in various stages of healing, and several small, atrophic scars from previous wounds that had healed by secondary intention were apparent. The ventral abdomen had a fresh linear 6‐cm‐long wound. The skin was noticeably loose and hyper‐elastic\". Jaffey et al. (2022): The clinical features of these [Pit Bull Terrier and an Alapaha Blue Blood Bulldog] dogs [with the 11:2280117delC, CanFam3.1 deletion] and 4 others with the same homozygous deletion included multifocal wounds, atrophic scars, joint hypermobility, narrowed palpebral fissures, skin hyperextensibility, and joint-associated swellings. Due to severe skin fragility, the owners of all 6 dogs elected euthanasia before the dogs reached 13 weeks of age. Cross sections of collagen fibrils in post-mortem dermal tissues from 2 of these dogs showed hieroglyphic-like figures similar to those from cases of severe dermatosparaxis in other species. ... [The Catahoula Leopard Dog with the 11:2491238G>A; p.(Arg966His) variant] exhibited multifocal wounds, atrophic scars, and joint hypermobility, but has survived for at least 9 years.\"","defect":true,"group_name":"Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009161","iri":"http://purl.obolibrary.org/obo/MONDO_0009161","label":"Ehlers-Danlos syndrome, dermatosparaxis type"}],"name":"Dermatosparaxis Ehlers Danlos syndrome (dEDS), ADAMTS2-related; Ehlers-Danlos syndrome, type VII (Dermatosparaxis)","omia_group_id":328,"omia_phene_id":4228,"omia_record_id":"OMIA:000328-9615","publication_ids":[119639,122707,122808,123112,123125,123365,123915,129481],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4228","source_release":"retrieved-2026-09-12","summary":"This phene has been renamed from \"Ehlers-Danlos syndrome, type VII (Dermatosparaxis)\" to \"Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related\" in OMIA on the basis of the review on human Ehlers-Danlos syndromes by Malfait et al. (2020) [2/6/2022].","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Dachshund, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200408"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Maltese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200856"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Scottish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201198"}],"characterised":true,"characterised_year":2019,"clinical_features":"\"On physical examination, evidence of generalized joint hyperextensibility with a range of motion greater than 180° ... and skin hyperextensibility ... and fragility was noted\" in an affected Labrador Retriever (Bauer et al. 2019). Two affected mixed breed dogs also showed marked skin hyperextensibility. Bruising and wounds were noted to occur after only mild trauma in these dogs. Joint hypermobility, a typical sign for classical Ehlers-Danlos, was not investiagted in the affected mixed breed dogs (Bauer et al. 2019).
Bullock et al. (2024) reported 7 affected dogs from different breeds: \"The most common clinical signs included fragile skin (n = 7), hyperextensible skin (n = 7), joint hypermobility (n = 6), and atrophic scars (n = 5). The median age at last follow-up or death was 12 years (range, 6.5-14 years). Ultrastructural abnormalities in dermal collagen differed among dogs with different COL5A1 variants.\"
Vizcaíno-Revés et al. (2025) report  bilateral cranial cruciate rupture as an additional clinical finding in a Maltese dog affected with classical Ehlers–Danlos Syndrome.","defect":true,"group_name":"classical Ehlers-Danlos syndrome (cEDS), COL5A1-related","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0019567","iri":"http://purl.obolibrary.org/obo/MONDO_0019567","label":"Ehlers-Danlos syndrome, classic type, 1"}],"name":"classical Ehlers-Danlos syndrome (cEDS), COL5A1-related; Ehlers-Danlos syndrome, classic type, 1","omia_group_id":2165,"omia_phene_id":4237,"omia_record_id":"OMIA:002165-9615","publication_ids":[119991,122707,122808,123125,123365,128127,132127],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4237","source_release":"retrieved-2026-09-12","summary":"This phene has been renamed from \"Ehlers-Danlos syndrome, classic type, 1\" to \"classical Ehlers-Danlos syndrome (cEDS), COL5A1-related\" in OMIA on the basis of the review on human Ehlers-Danlos syndromes by Malfait et al. (2020) [2/6/2022].","taxon_id":9615,"upheno_terms":[{"id":"HP:0000974","iri":"http://purl.obolibrary.org/obo/HP_0000974","label":"hyperextensible skin"},{"id":"HP:0001030","iri":"http://purl.obolibrary.org/obo/HP_0001030","label":"fragile skin"},{"id":"HP:0001075","iri":"http://purl.obolibrary.org/obo/HP_0001075","label":"atrophic scar"},{"id":"HP:0001382","iri":"http://purl.obolibrary.org/obo/HP_0001382","label":"joint hypermobility"},{"id":"MP:0003089","iri":"http://purl.obolibrary.org/obo/MP_0003089","label":"decrease skin tensile strength"},{"id":"MP:0005421","iri":"http://purl.obolibrary.org/obo/MP_0005421","label":"loose skin"},{"id":"MP:0008438","iri":"http://purl.obolibrary.org/obo/MP_0008438","label":"abnormal cutaneous collagen fibril morphology"},{"id":"MP:0030797","iri":"http://purl.obolibrary.org/obo/MP_0030797","label":"joint laxity"},{"id":"UPHENO:0050422","iri":"http://purl.obolibrary.org/obo/UPHENO_0050422","label":"abnormal collagen fibril organization"}]} +{"breeds":[{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"}],"characterised":false,"characterised_year":null,"clinical_features":"Bjerkås (1977): \"The symptoms started at the age of 3-6 months and were dominated by visual deficiency and/or progressive locomotive abnormalities.\"","defect":true,"group_name":"Leukodystrophy, cavitating","inheritance":null,"inheritance_text":"Bjerkås (1977): \"The disease is probably transmitted by autosomal recessive inheritance\".","mondo_terms":[],"name":"","omia_group_id":2214,"omia_phene_id":4239,"omia_record_id":"OMIA:002214-9615","publication_ids":[1023,7280,120051],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4239","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Schnauzer, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201189"}],"characterised":true,"characterised_year":2019,"clinical_features":"Störk et al. (2019): \"Clinical signs occurred shortly after birth or started at an age of under 4 weeks and included apathy, dysphoric vocalization, hypermetric ataxia, intension tremor, head tilt, circling, proprioceptive deficits, seizures and ventral strabismus consistent with a diffuse intracranial lesion. Magnetic resonance imaging revealed a diffuse white matter disease without mass effect.\"","defect":true,"group_name":"Leukodystrophy, TSEN54-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Störk et al. (2019): \"The occurrence of leukodystrophy in multiple consecutive litters from related parents suggested an inherited disease. Pedigree analysis of the four affected puppies no. 1–4 revealed several inbreeding loops and was suggestive for a monogenic autosomal recessive inheritance\".","mondo_terms":[],"name":"","omia_group_id":2215,"omia_phene_id":4240,"omia_record_id":"OMIA:002215-9615","publication_ids":[120053,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4240","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Pseudomyotonia, congenital","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010977","iri":"http://purl.obolibrary.org/obo/MONDO_0010977","label":"Brody myopathy"}],"name":"","omia_group_id":1464,"omia_phene_id":4246,"omia_record_id":"OMIA:001464-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4246","source_release":"retrieved-2026-09-12","summary":"Redundant - Information previously listed here relating to paradoxical pseudomyotonia has been moved to OMIA:002645-9615 Pseudomyotonia, paradoxical, SLC7A10-related","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Miniature Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200882"}],"characterised":true,"characterised_year":2019,"clinical_features":"Hadji Rasouliha et al. (2019): \"Laryngeal paralysis (LP) is the inability to abduct the arytenoid cartilages during inspiration, resulting in a partial to complete airway obstruction and consequent respiratory distress. Different forms of LP with varying age of onset exist in dogs. Hereditary early onset forms were reported in several dog breeds. In most breeds, hereditary LP is associated with other neurologic pathologies.\"","defect":true,"group_name":"Laryngeal paralysis, RAPGEF6-related","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2222,"omia_phene_id":4251,"omia_record_id":"OMIA:002222-9615","publication_ids":[109480,120322],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4251","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Kelpie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200090"}],"characterised":true,"characterised_year":2020,"clinical_features":"O'Brien et al. (2020): \"In an Australian Kelpie breeding population, 17 puppies presented with intestinal lipid malabsorption. Juvenile dogs exhibited stunted postnatal growth, steatorrhea, abdominal distension and a wiry coat.\"","defect":true,"group_name":"Lipid malabsorption, ACSL5-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"O'Brien et al. (2020): \"A PCR-based diagnostic test was developed and confirmed fully penetrant autosomal recessive mode of inheritance. . . . Of 19 samples tested, nine were homozygous for the deletion, all of which exhibited signs of disease (Fig. S4). In the controls, six samples were homozygous wild type and four were heterozygous for the variant. Dogs heterozygous for the variant were asymptomatic but came from families known to produce offspring with the disease phenotype.\"","mondo_terms":[],"name":"","omia_group_id":2226,"omia_phene_id":4254,"omia_record_id":"OMIA:002226-9615","publication_ids":[120981],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4254","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":true,"characterised_year":2020,"clinical_features":"","defect":false,"group_name":"Coat colour, phaeomelanin dilution, KITLG-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2228,"omia_phene_id":4258,"omia_record_id":"OMIA:002228-9615","publication_ids":[120364,121426,122792,124017],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4258","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Fecundity, generic","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1943,"omia_phene_id":4281,"omia_record_id":"OMIA:001943-9615","publication_ids":[120412],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4281","source_release":"retrieved-2026-09-12","summary":"Detailed information about the GDF9 variant described by Torrecilha et al. (2020) has been moved to: OMIA 02362-9615 Fecundity, GDF9-related.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":false,"characterised_year":null,"clinical_features":"Dierks et al. (2017): \"Seven male Labrador retriever puppies from four different litters were identified with a brachycephalic-like face and skull, associated with low birth weight, severe growth retardation, and reduced abilities to crawl and suckle, which were not compatible with survival.\"","defect":true,"group_name":"Facial dysmorphia","inheritance":{"code":"XLR","name":"X-linked recessive"},"inheritance_text":"Dierks et al. (2017): \"Pedigree analysis supported an X-linked recessive mode of inheritance.\"","mondo_terms":[],"name":"lethal brachycephalic-like facial dysmorphia","omia_group_id":2239,"omia_phene_id":4286,"omia_record_id":"OMIA:002239-9615","publication_ids":[120423,123256],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4286","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Norwegian Buhund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200953"}],"characterised":true,"characterised_year":2020,"clinical_features":"Affected Norwegian Buhunds generally present as puppies with slowly progressing abnormalities in gait and balance. There is generally no irregularity of behaviour or demeanour, however they have a broad-based stance and hypermetria in all limbs, truncal ataxia and persistent head tremors (Mari et al., 2018). A bilaterally reduced menace response may be present, however no other abnormalities are likely on physical exam, CBC or serum biochemistry, and no abnormalities have been noted on MRI imaging or CSF sampling in known cases (Mari et al., 2018).\r\nIT thanks DVM student Teresa McIntyre, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Ataxia, cerebellar, KCNIP4-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Progressive cerebellar ataxia","omia_group_id":2240,"omia_phene_id":4287,"omia_record_id":"OMIA:002240-9615","publication_ids":[120429,120430,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4287","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Cairn Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200267"},{"name":"Scottish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201198"},{"name":"West Highland White Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201415"}],"characterised":true,"characterised_year":2016,"clinical_features":"","defect":true,"group_name":"Craniomandibular osteopathy, SLC37A2-related","inheritance":{"code":"ADIP","name":"Autosomal dominant with incomplete penetrance"},"inheritance_text":"Padgett and Mostosky (1965) concluded autosomal recessive inheritance in the West Highland White terrier breed.\r\nHytönen et al. (2016) reported that \"The determination of the exact mode of inheritance in dogs [in West Highland White Terriers, Cairn Terriers and Scottish Terriers] is not straightforward due to the nature of the leaky splice variant and mild self-limiting phenotype that may remain unobserved and prevent retrospective diagnosis. We found some dogs that were homozygous for the variant but had no reported clinical signs. However, we observed a considerable level of the wild-type SLC37A2 transcript in homozygous dogs in the peripheral blood due to the splicing leakage, suggesting that the leaky expression is sufficient to avoid a clinical phenotype in some cases. We also found several heterozygous dogs that had developed CMO. We found that heterozygous dogs had lower levels of wild-type SLC37A2 transcript compared to the unaffected dogs with individual variation of expression between dogs. This result suggested a dominant disease with incomplete penetrance that could help to explain the reported differences in the severity and duration of CMO among the affected dogs, although alternative models of inheritance cannot be completely ruled out yet.\"","mondo_terms":[],"name":"","omia_group_id":2244,"omia_phene_id":4295,"omia_record_id":"OMIA:002244-9615","publication_ids":[49731,102023,115089,115094,115095,115098,116681,116682,117295,120448],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4295","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Pit Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200054"},{"name":"American Staffordshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200055"},{"name":"Bull Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200253"},{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":false,"characterised_year":null,"clinical_features":"Letko et a. (2020): \"persistent and sharp pain when opening mouth, painful swelling of the jaw, fever, and in some cases also severe pain of ulna and radius bones.\"","defect":true,"group_name":"Calvarial hyperostotic syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2245,"omia_phene_id":4296,"omia_record_id":"OMIA:002245-9615","publication_ids":[112523,115090,120448,120454,120455,120457,129342],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4296","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Height, LCORL-associated body-size variation","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2246,"omia_phene_id":4297,"omia_record_id":"OMIA:002246-9615","publication_ids":[119103,120620,129174,130364],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4297","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Saluki (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201171"}],"characterised":true,"characterised_year":2020,"clinical_features":"Vernau et al. (2020): \"Magnetic resonance imaging showed a diffuse, marked reduction in cerebral cortical thickness, and symmetrical T2 hyperintensity in specific brain regions. Cerebral cortical atrophy with vacuolation (status spongiosus) was noted on necropsy.\"","defect":true,"group_name":"Succinic semialdehyde dehydrogenase deficiency","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010083","iri":"http://purl.obolibrary.org/obo/MONDO_0010083","label":"succinic semialdehyde dehydrogenase deficiency"}],"name":"","omia_group_id":2250,"omia_phene_id":4308,"omia_record_id":"OMIA:002250-9615","publication_ids":[120483,120909,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4308","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Airedale Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200008"}],"characterised":true,"characterised_year":2020,"clinical_features":"Dillard et al. (2020): \"All 25 affected puppies were born at term with normal delivery. One was stillborn. Six (24%) were lethargic at birth, refused to suckle and developed dyspnea or tachypnea and died or were humanely euthanized at 4–18 hours later. The rest of the puppies (72%) were initially normal until the difficulties in breathing started. Most of these puppies died during one to four days (64%), except one puppy that survived for 7 days and one up to 4 weeks. Full necropsy was performed for the 25 puppies and the main lesion was in the lungs. The lungs of all the puppies, except the 4-week-old, were edematous, congested and appeared poorly aerated . . . . At four weeks the lungs had a rubbery texture and marked emphysema . . . . No significant macroscopic changes were detected in other organs.\"","defect":true,"group_name":"Surfactant metabolism dysfunction, pulmonary","inheritance":{"code":"RL","name":"Autosomal recessive lethal"},"inheritance_text":"Dillard et al. (2020) genotyped \"20 additional adult, non-affected AT dogs\" for the LAMP3 variant. \"As they were screened, one of these dogs, a dam that had had a litter that included affected puppies, turned out to be homozygous for the LAMP3 variant . . . . At the time of sampling, the dam was 6 years of age and, according to its owner, had been clinically healthy all its life without any signs of respiratory disease. To study the possible differences of the variants in the associated locus between the dam and the affected puppy, the whole genome of the dam was also sequenced and compared with the affected puppy. This analysis did not reveal any dam-specific heterozygous variants, which would have indicated that our LAMP3 variant is not causal but instead in LD with the true disease-causing variant. In contrast, this result suggests that the dam may have an unknown protective variant\".","mondo_terms":[],"name":"Fatal neonatal interstitial lung disease","omia_group_id":2251,"omia_phene_id":4309,"omia_record_id":"OMIA:002251-9615","publication_ids":[120487],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4309","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Progressive retinal atrophy, Miniature Schnauzer, type 1 (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"This entry has been merged with OMIA 001311-9615 : Photoreceptor dysplasia in Canis lupus familiaris [18/01/2023].","omia_group_id":2252,"omia_phene_id":4310,"omia_record_id":"OMIA:002252-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4310","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Retinal atrophy, progressive, Miniature Schnauzer, type 2","inheritance":{"code":"X","name":"X-linked"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2253,"omia_phene_id":4311,"omia_record_id":"OMIA:002253-9615","publication_ids":[120494],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4311","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2019,"clinical_features":"Yamanaka et al. (2019) reported a single affected '6-year-old spayed, mixed-breed dog ... . The dog was tentatively diagnosed with pemphigus foliaceus at a private hospital 9 months previously. The dog had been treated with prednisolone ... for approximately 3 months. After the dog was started on the medication, polyuria, polydipsia, and abdominal distension were observed. The pemphigus foliaceus was neither ameliorated nor aggravated. After prednisolone withdrawal, calcinosis cutis was observed on the dorsal skin. Two months later ... the adverse reaction due to glucocorticoid therapy had already disappeared, except for extremely severe calcinosis cutis over the entire dorsal skin ... .\" The authors diagnosed glucocorticoid resistance in this dog with iatrogenic Cushing syndrome.","defect":true,"group_name":"Glucocorticoid resistance","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0014421","iri":"http://purl.obolibrary.org/obo/MONDO_0014421","label":"glucocorticoid resistance"}],"name":"","omia_group_id":2254,"omia_phene_id":4312,"omia_record_id":"OMIA:002254-9615","publication_ids":[120499,124966],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4312","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Belgian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200144"}],"characterised":true,"characterised_year":2020,"clinical_features":"The clinical phenotype is unspecific and variable. In the study of Gurtner et al. (2020), three affected puppies were studied, which all died at 8 weeks of age. A few days prior to death they showed various clinical signs such as vomiting and dyspnea (n = 2) or lethargy and muscle twitching (n = 1) (Gurtner et al. 2020).","defect":true,"group_name":"Cardiomyopathy and juvenile mortality","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Gurtner et al. (2020): \"Pedigree analysis suggested a monogenic autosomal recessive inheritance.\"","mondo_terms":[],"name":"","omia_group_id":2256,"omia_phene_id":4314,"omia_record_id":"OMIA:002256-9615","publication_ids":[120524,125159],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4314","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Tetragametic chimerism (including Freemartin)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":393,"omia_phene_id":4315,"omia_record_id":"OMIA:000393-9615","publication_ids":[120525,125933,125934],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4315","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Coat colour, ticked","inheritance":null,"inheritance_text":"Based on an analysis of coat-colour inheritance in more than 2,000 dogs in his Bar Harbor colony and on data collected on around 20,000 dogs from thousands of breeders, Little (1953) proposed a ticked locus with two alleles, the dominant T (ticked) allele and the recessive t allele for non-ticked. Little (1957) discussed evidence for this locus.","mondo_terms":[],"name":"","omia_group_id":2264,"omia_phene_id":4333,"omia_record_id":"OMIA:002264-9615","publication_ids":[119928,120639,121048,122792,124017],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4333","source_release":"retrieved-2026-09-12","summary":"Brancalion et al. (2021): \"“ticked” and “roan” . . . both describe the presence of flecks of color that vary in distribution and intensity within otherwise “clear” white markings. The appearance of the pigment in the white patterning caused by ticking and roaning intensifies in the weeks after birth. . . . Colloquially, ticked is regarded as the appearance of pigmented spots in white areas of the body. Pigmented spots from ticking range in size from only a few hairs to coin-sized and are most dense on the muzzle and legs . . . . In contrast, pigmentation in the white patterning associated with roan is a mixture of pigmented and white hairs throughout the areas of the coat that would otherwise be white (Little 1953), with the phenotype dispersed relatively evenly across the body.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"English Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200495"},{"name":"Irish Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200704"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"}],"characterised":true,"characterised_year":2020,"clinical_features":"Sueki et al. (1997) reported skin lesions on the ventral chest of a single 7 month old English Setter and on the head and knee of two of his crossbred offspring: \"skin lesions were characterized by hairless, hypertrophic plaques ... The surface of the lesion was rough, with occasional serous crusting and peripheral scaling .... Pruritus was minimal. The lesions enlarged slowly, and no additional lesion developed.\" Linek et al. (2020) reported a \"4-month-old female Irish Terrier ... with a well demarcated ulcerative and crusting lesion in the right ear canal. ... The lesion was successfully treated .... Over the course of three years, the dog additionally developed three dermal nodules of up to 4 cm in diameter that were excised and healed without complications.\"","defect":true,"group_name":"Darier disease","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0007417","iri":"http://purl.obolibrary.org/obo/MONDO_0007417","label":"Darier disease"}],"name":"Also described as epidermal acantholysis","omia_group_id":2265,"omia_phene_id":4334,"omia_record_id":"OMIA:002265-9615","publication_ids":[72598,120642,120643,120644,120645,123125,124326],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4334","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"}],"characterised":true,"characterised_year":2020,"clinical_features":"Backel et al. (2020): \"A single male Rottweiler dog with severe footpad hyperkeratosis starting at an age of eight weeks was investigated. The hyperkeratosis was initially restricted to the footpads. The footpad lesions caused severe discomfort to the dog and had to be trimmed under anesthesia every 8-10 weeks. Histologically, the epidermis showed papillated villous projections of dense keratin in the stratum corneum. Starting at eight months of age, the patient additionally developed signs consistent with atopic dermatitis and recurrent bacterial skin and ear infections. Crusted hyperkeratotic plaques developed at sites of infection.\"","defect":true,"group_name":"Hyperkeratosis, palmoplantar, DSG1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0007859","iri":"http://purl.obolibrary.org/obo/MONDO_0007859","label":"palmoplantar keratoderma i, striate, focal, or diffuse"}],"name":"Hereditary footpad hyperkeratosis (HFH)","omia_group_id":2266,"omia_phene_id":4335,"omia_record_id":"OMIA:002266-9615","publication_ids":[120651,123125],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4335","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"}],"characterised":true,"characterised_year":2020,"clinical_features":"Affected puppies developed widespread ulcers of the skin, footpads, and oral mucosa within the first weeks of life. The average weight was about half that of their unaffected siblings. Due to the severity of the phenotype affected dogs were euthanized between 4 and 7.5 months of age (Kiener et al. 2020). The skin lesions were not seen at birth and developed only during the first weeks of life. This led to the classification of a JEB of intermediate severity (Kiener et al. 2020).","defect":true,"group_name":"Epidermolysis bullosa, junctionalis, LAMB3-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2269,"omia_phene_id":4338,"omia_record_id":"OMIA:002269-9615","publication_ids":[120907,120908,123125,123600],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4338","source_release":"retrieved-2026-09-12","summary":"In epidermolysis bullosa (EB), the epidermis easily detaches from the underlying dermis. Currently four subtypes of EB are distinguished: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler EB. At the time of preparing this entry, 16 different EB genes were known in human genetics (Has et al. 2020).","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"}],"characterised":true,"characterised_year":2020,"clinical_features":"","defect":true,"group_name":"Familial adenomatous polyposis","inheritance":{"code":"PD","name":"Probably autosomal dominant"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0021056","iri":"http://purl.obolibrary.org/obo/MONDO_0021056","label":"familial adenomatous polyposis 1"}],"name":"","omia_group_id":1916,"omia_phene_id":4347,"omia_record_id":"OMIA:001916-9615","publication_ids":[120720,121155,123398,125606,133360],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4347","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Staffordshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200055"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2020,"clinical_features":"","defect":true,"group_name":"Muscular dystrophy, Ullrich type, COL6A3-related","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"","mondo_terms":[],"name":"Ullrich-like congenital muscular dystrophy; sarcolemmal specific collagen VI deficient myopathy","omia_group_id":2274,"omia_phene_id":4348,"omia_record_id":"OMIA:002274-9615","publication_ids":[116107,120721,125860],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4348","source_release":"retrieved-2026-09-12","summary":"see also 'Muscular dystrophy, Ullrich type, COL6A1-related in Canis lupus familiaris' for similar disease in Landseer dogs","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"}],"characterised":true,"characterised_year":2020,"clinical_features":"HPS3 deficient (cocoa) coloured dogs are born brown. Their colour darkens with age and they become slightly darker than TYRP1-deficient (chocolate) dogs as adults (Kiener et al. 2020). So far, it has not been investigated whether cocoa coloured dogs have any bleeding disorder or visual impairments, similar to what has been observed in human patients with Hermansky-Pudlak syndrome 3.","defect":false,"group_name":"Coat colour, HPS3-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2275,"omia_phene_id":4351,"omia_record_id":"OMIA:002275-9615","publication_ids":[120776,121947,122792,124017],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4351","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Belgian Shepherd Dog, Malinois (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200147"}],"characterised":true,"characterised_year":2019,"clinical_features":"Van Poucke et al. (2019): \"progressive spinocerebellar ataxia, which is the most important feature of the canine phenotype, hindlimb paresis, and myokymia-like muscle contractions\"","defect":true,"group_name":"Ataxia, spinocerebellar, SLC12A6-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2279,"omia_phene_id":4355,"omia_record_id":"OMIA:002279-9615","publication_ids":[119404,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4355","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Coat colour, albinism, generic","inheritance":null,"inheritance_text":"In the results of their extensive matings in their experimental kennel in which albinism was segregating, Pearson and Usher (1929) did not observe phenotypic ratios consistent with single-locus Mendelian inheritance.","mondo_terms":[],"name":"","omia_group_id":2280,"omia_phene_id":4372,"omia_record_id":"OMIA:002280-9615","publication_ids":[7644,8147],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4372","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Spanish Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201280"}],"characterised":true,"characterised_year":2020,"clinical_features":"Winkler et al. (2020): \"Fundus images from an affected ~4.5-year-old dog (SWD IIE) showed advanced retinal degeneration typical of PRA, including vascular attenuation and tapetal hyperreflectivity\"","defect":true,"group_name":"Retinal atrophy, progressive, PDE6B-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2282,"omia_phene_id":4391,"omia_record_id":"OMIA:002282-9615","publication_ids":[120851,123310,125219,126631,126774,129719,129973,130075,132320],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4391","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Brussels Griffon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200241"},{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Petit Brabancon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201011"},{"name":"Russian Bolonka (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201147"}],"characterised":true,"characterised_year":2020,"clinical_features":"Iio et al. (2020) :\"A 6-mo-old female Chihuahua was presented with recurrent episodes of hypoglycemia and collapse. Physical examination revealed proportionate dwarfism, retained puppy hair coat, retained deciduous teeth, and open fontanelles. Routine blood tests revealed hypoglycemia, thrombocytosis, hypoproteinemia, and elevated alkaline phosphatase activity. The urinalysis, radiographs, and ultrasonographs were unremarkable. Endocrine testing revealed that insulin-like growth factor 1 was below the detection limit; concentrations of total thyroxine, baseline cortisol, and cortisol stimulated by tetracosactide acetate were within their reference intervals. The pituitary gland showed no organic abnormalities on magnetic resonance imaging. For definitive diagnosis, we conducted the stimulation test for growth hormone (GH) release and diagnosed isolated GH deficiency.\"","defect":true,"group_name":"Dwarfism, growth-hormone deficiency","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"isolated growth hormone deficiency","omia_group_id":1473,"omia_phene_id":4393,"omia_record_id":"OMIA:001473-9615","publication_ids":[120856,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4393","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[{"id":"HP:0000270","iri":"http://purl.obolibrary.org/obo/HP_0000270","label":"delay cranial suture closure"},{"id":"HP:0000824","iri":"http://purl.obolibrary.org/obo/HP_0000824","label":"decrease response to growth hormone stimulation test"},{"id":"HP:0006335","iri":"http://purl.obolibrary.org/obo/HP_0006335","label":"persistence of primary teeth"},{"id":"HP:0030353","iri":"http://purl.obolibrary.org/obo/HP_0030353","label":"decrease serum insulin - like growth factor 1"},{"id":"MP:0000189","iri":"http://purl.obolibrary.org/obo/MP_0000189","label":"hypoglycemia"},{"id":"MP:0002073","iri":"http://purl.obolibrary.org/obo/MP_0002073","label":"abnormal hair growth"},{"id":"MP:0005505","iri":"http://purl.obolibrary.org/obo/MP_0005505","label":"thrombocytosis"},{"id":"MP:0005567","iri":"http://purl.obolibrary.org/obo/MP_0005567","label":"decreased circulating total protein level"},{"id":"MP:0008974","iri":"http://purl.obolibrary.org/obo/MP_0008974","label":"proportional dwarf"},{"id":"MP:0011584","iri":"http://purl.obolibrary.org/obo/MP_0011584","label":"increased alkaline phosphatase activity"}]} +{"breeds":[{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"}],"characterised":true,"characterised_year":2019,"clinical_features":"Granger et al. (2019): \"at a young age (<2 years), affected Miniature Schnauzers presented regurgitations caused by mega-esophagus and inspiratory dyspnea caused by laryngeal paralysis. Electrophysiological studies revealed marked slowing of motor and sensory nerve conduction velocities (∼20 m/s), although some nerves had preserved conduction velocities.\"\r\nFarré Mariné et al. (2020): \"Twelve Miniature Schnauzers presented between March 2013 and June 2019. Only dogs presented with consistent clinical signs and homozygous for the MTRM13/SBF2 genetic variant were included. Clinical signs, age of onset and presentation, time from onset to presentation, treatment, outcome, and time from diagnosis to final follow-up were retrospectively reviewed. The hallmark clinical signs at the time of presentation were regurgitation with radiologically confirmed megaesophagus (11/12) and aphonic bark (11/12) with or without obvious neuromuscular weakness despite electrodiagnostic evidence of appendicular demyelinating polyneuropathy. Age of onset and clinical presentation were 3-18 and 4-96 months, respectively. Treatment was mostly symptomatic and consisted of head elevation during meals, antacids, prokinetics, bethanechol, sildenafil, mirtazapine, or some combination of these. During the follow-up period (7-73 months), clinical signs were unchanged in (11/12) cases with aspiration pneumonia developing occasionally (6/12) and being the cause of death in 1 dog. Demyelinating polyneuropathy of Miniature Schnauzers tends to remain stable over the long term leading to a good prognosis with preventive feeding measures and symptomatic treatment to control aspiration pneumonia.\"","defect":true,"group_name":"Polyneuropathy, SBF2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Granger et al. (2019): \"[Vanhaesebrouck et al. (2008)] described the clinical, electrophysiological and pathological findings of a demyelinating motor and sensory neuropathy in Miniature Schnauzer dogs, with a suspected autosomal recessive mode of inheritance based on pedigree analysis.\"","mondo_terms":[],"name":"","omia_group_id":2284,"omia_phene_id":4395,"omia_record_id":"OMIA:002284-9615","publication_ids":[109111,120866,120867,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4395","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Vestibular disease","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2263,"omia_phene_id":4398,"omia_record_id":"OMIA:002263-9615","publication_ids":[120895],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4398","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":false,"characterised_year":null,"clinical_features":"Jolly et al. (2002) reported that \"The nature, distribution and histochemistry of lesions observed [in a mixed-breed dog] are consistent with a putative diagnosis of Glycogen storage disease type IV, an inherited metabolic defect associated with a deficiency of glycogen-branching enzyme not previously reported in dogs.\"","defect":true,"group_name":"Glycogen storage disease IV","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009292","iri":"http://purl.obolibrary.org/obo/MONDO_0009292","label":"glycogen storage disease due to glycogen branching enzyme deficiency"}],"name":"","omia_group_id":420,"omia_phene_id":4406,"omia_record_id":"OMIA:000420-9615","publication_ids":[120934,121122],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4406","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Lhasa Apso (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200824"}],"characterised":true,"characterised_year":2020,"clinical_features":"Clinical signs are consistent with a rod-cone degeneration in both eyes. Initially, there may be mild attenuation of retinal blood vessels, hyper-reflectivity of the tapetum, optic disc discolouration and night blindness. As the disease progresses, the blindness becomes moderate to severe with attenuation of retinal blood vessel; hyper-reflectivity of the tapetum, due to retinal thinning; and optic disc atrophy (Hitti-Malin et al., 2020). Of the 19 out of 21 dogs for whom an age at diagnosis is known, approximately 50% were diagnosed between the age of 5 and 8 years (Hitti-Malin et al., 2020). [IT thanks DVM student Andrew Barker, who provided the basis of this contribution in April 2022].","defect":true,"group_name":"Retinal atrophy, progressive, IMPG2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Progressive retinal atrophy 4","omia_group_id":2289,"omia_phene_id":4409,"omia_record_id":"OMIA:002289-9615","publication_ids":[112004,120957,125219,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4409","source_release":"retrieved-2026-09-12","summary":"Many different forms of progressive retinal atrophy (PRA) exist and more than 10 different genes have been identified so far in dogs to have likely causal variants for PRA. Please review OMIA for other variants. This OMIA entry will focus on PRA due the variants in the IMPG2 gene.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Intersex: XX, SRY-negative (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2290,"omia_phene_id":4411,"omia_record_id":"OMIA:002290-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4411","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"}],"characterised":false,"characterised_year":null,"clinical_features":"Abrams et al. 92020): \"maxillary canine-tooth mesioversion (MCM) describes an upper canine tooth that is displaced forward toward the nose, also known as a lance canine . . . . One or both maxillary canines may be affected. MCM can cause traumatic occlusion, ulceration of the upper lip, and/or periodontal disease and may require extraction or orthodontic repositioning\".","defect":true,"group_name":"Maxillary canine-tooth mesioversion","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2291,"omia_phene_id":4412,"omia_record_id":"OMIA:002291-9615","publication_ids":[120963,120964],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4412","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dutch Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200463"},{"name":"Nova Scotia Duck Tolling Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200964"}],"characterised":true,"characterised_year":2019,"clinical_features":"Shelton et al. (2019) reported in Dutch Shepherd dogs with the p.L349P variant: \"Five related Dutch Shepherd dogs with progressive muscle weakness and generalized muscle atrophy beginning at 3 to 9 months of age were euthanized by 2 years of age. Clinical signs included muscle tremors, pelvic limb stiffness, weakness progressing to inability to walk, and severe muscle atrophy. Serum CK activity was moderately elevated (ranging from 800–2,500 IU/L (reference values <200 IU/L) in all affected dogs, indicating myofiber damage. As far as could be determined, affected dogs did not have behavioral abnormalities or seizure activity, interacted with littermates and other dogs, and were visual with no ocular abnormalities noted. As myopathic changes predominated, extensive evaluations by a veterinary neurologist for central nervous system disease or by an ophthalmologist for ocular disease were not performed.\"\r\nChristen et al. (2022) reported in 4 Nova Scotia Duck Tolling Retrievers with the p.P446L variant: \"Age of onset of neurological signs was between 10 weeks and 6 months. Clinical abnormalities were restricted to the neuromuscular system in all four dogs. Neurological examination showed generalized ataxia and hypermetria, which was more pronounced in the pelvic limbs in all four dogs. Intentional head tremor was present in one dog. In two dogs, generalized neuromuscular weakness became apparent after 1 month, characterized by exercise intolerance, episodic collapse, stiff gait, and bunny hopping. Hopping was delayed in four limbs in three dogs, menace responses were absent in one dog, and decreased withdrawal reflexes were found in four limbs of three dogs.\" ... \"Blood examination showed increases in serum creatine kinase concentrations in all four dogs (between 3 and 25 times greater than the upper reference limit). An EMG showed mild spontaneous activity in peripheral limb muscles. MRI of the brain in the same dog showed bilateral symmetrical lesions in the cerebellum and multifocal lesions in the masticatory muscles.\"","defect":true,"group_name":"Cerebellar degeneration-myositis complex, SLC25A12-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Cerebellar degeneration-myositis complex, inflammatory myopathy","omia_group_id":2294,"omia_phene_id":4415,"omia_record_id":"OMIA:002294-9615","publication_ids":[120984,123441,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4415","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":true,"characterised_year":2020,"clinical_features":"","defect":true,"group_name":"XY sex reversal, NR5A1-related","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013066","iri":"http://purl.obolibrary.org/obo/MONDO_0013066","label":"46,XY sex reversal 3"}],"name":"XY difference of sexual development, NR5A1-related; XY disorder of sexual development, NR5A1-related","omia_group_id":2296,"omia_phene_id":4419,"omia_record_id":"OMIA:002296-9615","publication_ids":[120997],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4419","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":true,"characterised_year":2013,"clinical_features":"","defect":true,"group_name":"Leukaemia, chronic myelomonocytic","inheritance":{"code":"SMu","name":"Somatic mutation"},"inheritance_text":"","mondo_terms":[],"name":"Chronic myelomonocytic leukemia","omia_group_id":2299,"omia_phene_id":4429,"omia_record_id":"OMIA:002299-9615","publication_ids":[121059,121060,124551],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4429","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Leonberger (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200819"},{"name":"New Zealand Heading Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200935"},{"name":"Pyrenean Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201117"},{"name":"Saint Bernard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201160"}],"characterised":true,"characterised_year":2020,"clinical_features":"Letko et al. (2020): \"key feature across breeds being breathing difficulty, often described as noisy or raspy breathing ... . Additional clinical signs, which were noted variably among the dogs, included difficulty swallowing, changes in barking frequency and quality, high-stepping and uncoordinated gait, stumbling and tripping, exercise intolerance, and limb muscle atrophy.\"","defect":true,"group_name":"Laryngeal paralysis and polyneuropathy, CNTNAP1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2301,"omia_phene_id":4432,"omia_record_id":"OMIA:002301-9615","publication_ids":[109480,121067,125653,128324,130294,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4432","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dachshund, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200408"}],"characterised":true,"characterised_year":2021,"clinical_features":"Clinical signs first becomes apparent in affected Miniature Dachshunds when they are young, at approximately 6 months of age, and is slowly progressive (Mickelson et al, 2021). Dogs with this disease will show signs such as exercise intolerance, a stiff gait, difficulty swallowing and pneumonia (Mickelson et al., 2021). Blood tests will show consistent high levels of the muscle enzyme, creatinine kinase (CK) in the blood and urine tests will show myoglobinuria, an excess of myoglobin indicating muscle breakdown (Mickelson et al, 2021). A marked and persistent elevation in CK, even if the dog is not showing clinical signs, may be an indicator of disease in young Miniature Dachshunds (Mickelson et al, 2021). \r\n\r\nIT thanks DVM student Dilshara Hill, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Muscular dystrophy, limb-girdle, type R3 (LGMDR3)","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0011968","iri":"http://purl.obolibrary.org/obo/MONDO_0011968","label":"autosomal recessive limb-girdle muscular dystrophy type 2D"}],"name":"LGMD2D; alpha-sarcoglycanopathy","omia_group_id":2305,"omia_phene_id":4444,"omia_record_id":"OMIA:002305-9615","publication_ids":[121143],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4444","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"},{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"},{"name":"Wirehaired Pointing Griffon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201427"}],"characterised":true,"characterised_year":2021,"clinical_features":"","defect":false,"group_name":"Coat colour, roan","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1216,"omia_phene_id":4461,"omia_record_id":"OMIA:001216-9615","publication_ids":[119928,121048,121252,121264,122792,124017],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4461","source_release":"retrieved-2026-09-12","summary":"see also: OMIA 002264-9615 : Coat colour, ticked in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Czechoslovakian Wolfdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200402"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Saarloos Wolfhond (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201158"},{"name":"Tibetan Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201353"},{"name":"White Swiss Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201423"}],"characterised":true,"characterised_year":2011,"clinical_features":"Dogs with homozygous LXH3 defects experience deficiency in pituitary hormone production, including GH, TSH and reproductive hormones (Voorbji et al., 2011). As a result of the primary insufficiency in GH, IGF levels are low in affected dogs compared to healthy dogs, leading to marked growth retardation with proportional dwarfism (Eigenmann et al., 1984; Voorbij and Kooistra, 2009). The affected puppies have normal growth during the first weeks, but the growth rate markedly slows down (Voorbij, Leegwater and Kooistra, 2014; Voorbij and Kooistra, 2009). Other characteristic clinical features include bilateral symmetrical alopecia mostly at the trunk, neck and proximal extremities, retention of secondary hair coat and lack of guard hairs (Voorbij and Kooistra, 2009). Concurrent problems such as hyperpigmentation, pyoderma, and scales may also occur (Voorbij and Kooistra, 2009). Some dogs develop neurological signs due to anatomical abnormalities in the atlanto-axial joint (Voorbij et al., 2015). IT thanks DVM student Riley Lin, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Pituitary hormone deficiency, LHX3-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Dwarfism, pituitary, LHX3-related; pituitary dwarfism","omia_group_id":2314,"omia_phene_id":4464,"omia_record_id":"OMIA:002314-9615","publication_ids":[110442,111881,111882,112875,112884,116379,120665,121756,124865,124866,128250,130528],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4464","source_release":"retrieved-2026-09-12","summary":"see also OMIA:000307-9615 Dwarfism, pituitary, generic and OMIA:002315-9615 : Dwarfism, pituitary, POU1F1-related in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Karelian Bear Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200754"}],"characterised":true,"characterised_year":2021,"clinical_features":"Karelian bear dogs with the homozygous POU1F1 defect present with proportional dwarfism, being approximately 18cm smaller in height than unaffected KBDs (Andresen & Willeberg, 1976). Affected dogs either retain their puppy coat or appear to have a regular adult coat until around 2-3 years of age when their hair coat is almost completely lost (Andresen & Willeberg, 1976). Clinical presentations can be more severe with early onset neurological signs including seizures and blindness in puppies (Kyostila et al., 2021). IT thanks DVM student Gemma Campbell, who provided the basis of this contribution in May 2023","defect":true,"group_name":"Pituitary hormone deficiency, POU1F1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0024464","iri":"http://purl.obolibrary.org/obo/MONDO_0024464","label":"pituitary hormone deficiency, combined, 1"}],"name":"combined pituitary hormone deficiency dwarfism; hypopituitarism dwarfism; pituitary dwarfism","omia_group_id":2315,"omia_phene_id":4465,"omia_record_id":"OMIA:002315-9615","publication_ids":[110443,121208],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4465","source_release":"retrieved-2026-09-12","summary":"see also OMIA:000307-9615 : Dwarfism, pituitary, generic and OMIA:002314-9615 : Dwarfism, pituitary, LHX3-related in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Finnish Lapphund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200523"},{"name":"Lapponian Herder (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200814"}],"characterised":true,"characterised_year":2021,"clinical_features":"Kaukonen et al. (2021): \"examinations had revealed clinical findings compatible with generalized PRA in 10 LHs (five males, five females), as these dogs presented with bilateral, diffuse tapetal hyperreflectivity and vessel attenuation. Two of the 10 cases were only examined as young or middle-aged adults (at 1.9 and 5.1 years of age) when they exhibited only mild fundus changes and were therefore diagnosed to have “PRA suspected”. The remaining eight dogs were also examined later in life and had been diagnosed as “PRA affected” at an average age of 9.0 years (± SD 2.9). Typical early findings included night blindness and diffuse tapetal hyperreflectivity. Disease progression was slow as some of the affected dogs still had some visual capacity left at 13 years. All the cases were genotyped for the PRCD p.C2Y and the cmr3 (p.P463fs, p.G489V) variants ... . Of the 10 cases, all were wild-type for the PRCD variant, while four were wild-type and six heterozygous for the two cmr3 variants ... . Spectral-domain optical coherence tomography (SD-OCT) was performed ... . The thicknesses of the whole retina with the retinal pigment epithelium (RPE) and outer retinal layers, including outer nuclear layer, inner segments and outer segments of photoreceptors, and RPE, were severely reduced in the affected dog ... . Interestingly, the photoreceptor layer was not completely lost despite the dog’s old age ... . Apart from the ocular signs, all three dogs were clinically healthy.\"","defect":true,"group_name":"Retinal atrophy, progressive, IFT122-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Kaukonen et al. (2021): \"Pedigree analysis suggested autosomal recessive PRA in LH [Lapponian Herders], as affected dogs were born to unaffected individuals, there were multiple cases in one of the affected litters, and both sexes were equally affected.\"","mondo_terms":[],"name":"","omia_group_id":2320,"omia_phene_id":4473,"omia_record_id":"OMIA:002320-9615","publication_ids":[121265,125219,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4473","source_release":"retrieved-2026-09-12","summary":"Kaukonen et al. (2021): \"Retinitis pigmentosa (RP) is a blinding eye disease affecting nearly two million people worldwide. Dogs are affected with a similar illness termed progressive retinal atrophy (PRA). Lapponian herders (LHs) are affected with several types of inherited retinal dystrophies, and variants in PRCD and BEST1 genes have been associated with generalized PRA and canine multifocal retinopathy 3 (cmr3), respectively. However, all retinal dystrophy cases in LHs are not explained by these variants ... . We report here a recessive missense variant in IFT122 as a candidate causal variant for a novel canine RP model ... .\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Leukodystrophy, hypomyelinating","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Shaking puppy syndrome","omia_group_id":2321,"omia_phene_id":4474,"omia_record_id":"OMIA:002321-9615","publication_ids":[121267,127213],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4474","source_release":"retrieved-2026-09-12","summary":"Quitt et al. (2021) \"described a novel hypomyelinating leukodystrophy in 11 related German Shepherd dogs. The clinical course was nonprogressive and adult dogs walked with residual pelvic limb ataxia. Repeated conventional brain MRI was useful to characterize abnormal maturation of subcortical and cerebellar white matter. The disease is thought to be genetic in origin with an autosomal recessive mode of inheritance.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dutch Tulip Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200469"}],"characterised":true,"characterised_year":2021,"clinical_features":"Mandigers et al. (2021): \"Affected pups exhibited clinical signs of a severe tetraparesis, dystonia, cramping and falling over when trying to walk. In most cases, the presentation deteriorated within weeks and elective euthanasia was performed. ... In all pups, routine hematology and clinical chemistry and urinalysis did not reveal any significant abnormalities. In two pups the complete vertebral column was radiographically examined, in four pups an EMG (electromyogram) performed and these did not reveal any abnormalities. On four pups a so-called tensilon test was performed that ruled out myasthenia gravis. In two pups the acetylcholinesterase receptor titer for myasthenia gravis was measured and was found not to be abnormal. In seven pups titers for toxoplasmosis and neospora revealed no increase. In three pups an additional organic acid analysis was performed, which did not reveal any abnormality.\"","defect":true,"group_name":"Dyskinesia, paroxysmal, SOD1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Mandigers et al. (2021): \"Pedigree analysis indicated autosomal recessive inheritance.\"","mondo_terms":[],"name":"","omia_group_id":2322,"omia_phene_id":4475,"omia_record_id":"OMIA:002322-9615","publication_ids":[121270,122714,122898,123965,128068,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4475","source_release":"retrieved-2026-09-12","summary":"A different mutation in the SOD1 gene causes adult onset disease: OMIA 000263-9615 : Degenerative myelopathy in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Neurofibromatosis, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":716,"omia_phene_id":4481,"omia_record_id":"OMIA:000716-9615","publication_ids":[121369,121371],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4481","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Parson Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200987"}],"characterised":true,"characterised_year":2021,"clinical_features":"Hytönen et al. (2021): \"The affected dogs develop normally until 6–12 weeks of life before the onset of rapidly worsening seizures, status epilepticus, and death.\"","defect":true,"group_name":"Epilepsy, mitochondrial dysfunction and neurodegeneration, PITRM1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Hytönen et al. (2021): \"Relatedness information of the affected dogs suggested an autosomal recessive mode of inheritance for the disease as all affected dogs were closely related, including affected littermates, both sexes were affected, and parents were unaffected.\"","mondo_terms":[],"name":"","omia_group_id":2324,"omia_phene_id":4483,"omia_record_id":"OMIA:002324-9615","publication_ids":[121391,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4483","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Stumpy Tail Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200097"}],"characterised":true,"characterised_year":2021,"clinical_features":"","defect":true,"group_name":"Deafness, KLF7-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Congenital Deafness; hearing loss; canine deafness; congenital sensorineural deafness","omia_group_id":2326,"omia_phene_id":4485,"omia_record_id":"OMIA:002326-9615","publication_ids":[109278,121398,128324],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4485","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Shiba Inu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201220"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Hyperinsulinemic hypoglycemia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"congenital hyperinsulinism","omia_group_id":2327,"omia_phene_id":4488,"omia_record_id":"OMIA:002327-9615","publication_ids":[121413],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4488","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Belgian Shepherd Dog, Malinois (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200147"},{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"French Pointing Dog - Pyrenean Type (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200546"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Behaviour","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2328,"omia_phene_id":4489,"omia_record_id":"OMIA:002328-9615","publication_ids":[121414,121725,121726,122109,124352,124858,124899,124938,124973,125576,125654,126321,126501,126741,126765,127756,127852,127917,127973,127984,127989,128491,128572,128719,129027,129266,129285,129790,129810,130323,130369,130516,130549,130795,130832,130850,131079,131080,131087,132399,132480,132481,132511,132532,133170,133301,133464],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4489","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Prostate cancer","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2335,"omia_phene_id":4504,"omia_record_id":"OMIA:002335-9615","publication_ids":[121440,121441,121442,121443,121444,121445,121446,122589,124551,124935,125830,126433,127380,127413,128361,128494,129842,130385,130657,130856,131130],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4504","source_release":"retrieved-2026-09-12","summary":"Teske et al. (2002): \"Prostate cancer is one of the most important malignancies in men in the Western world. ... The dog is one of the few other species in which spontaneous prostate cancer occurs.\" Teske et al. (2002) \"investigated the frequency of prostate cancer among prostatic abnormalities in dogs and evaluated whether castration influences the incidence of prostate cancer in dogs. Other factors such as age at castration, age at diagnosis, and breed were included in an attempt to improve insight into the pathogenesis of prostate cancer in the dog .... We observed an increased risk of benign prostatic disease in the Scottish terrier, the Bouvier des Flandres, the Bernese mountain dog and the German Pointer. To our knowledge, a breed specificity for BPH, in Doberman Pinschers, has only been reported once before [Krawiec and Heflin, 1992].\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"}],"characterised":true,"characterised_year":2021,"clinical_features":"Hytönen et al. (2021): \"Sensorineural bilateral deafness was diagnosed in four Rottweiler siblings (one female and three males) in a litter of ten puppies using brainstem auditory evoked response (BAER) testing. BAER testing was performed either at 4 (n = 2), 5, or 19 months of age, and no auditory response was detected in any of them. However, owners’ observations suggested that the puppies had already been affected by hearing impairment at a few weeks of age. No other clinical signs were observed.\"","defect":true,"group_name":"Deafness, LOXHD1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Hytönen et al. (2021): \"To validate the LOXHD1 variant, we genotyped it in a cohort of 585 Rottweilers, including the four affected siblings and 581 unaffected dogs. We observed complete segregation of the variant with hearing loss, as all four affected dogs were homozygous for the variant. The unaffected dogs were either heterozygous (n = 33) or wild-type (n = 548). The six unaffected littermates of the probands were either wild-type or heterozygous for the variant.\"","mondo_terms":[],"name":"Nonsyndromic hearing loss","omia_group_id":2336,"omia_phene_id":4508,"omia_record_id":"OMIA:002336-9615","publication_ids":[65182,121557,121558,125653,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4508","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"}],"characterised":true,"characterised_year":2021,"clinical_features":"Joyce et al. (2021): \"In the original litter examined (seven puppies), two males were found to have behavioural signs suggestive of severe visual deficits (determined by observing their movements in unfamiliar surroundings), absent pupillary light reflexes, wandering nystagmus, darkened irises, and extensive posterior segment haemorrhage. Ocular ultrasonography revealed total retinal detachment and increased echogenicity within posterior segment in all eyes. The globe diameters (anterior to posterior) were comparable with their normal litter mates at 16mm in all dogs except one affected dog, whose globes were 15mm OU. ... One male was found to be bilaterally cryptorchid on clinical examination. ... In the second litter examined (four puppies), one male displayed behavioural signs suggestive of severe visual deficits (determined by observing his movements in unfamiliar surroundings), and was found to have absent dazzle and pupillary light reflexes, a wandering nystagmus, corneal endothelial opacities ventrally in the right eye, darkened irises, hyphema of the right eye and extensive posterior segment haemorrhage in both eyes, with the retina in the left eye appearing detached and as a fibrovascular retrolental mass ..... Ocular ultrasonography revealed total retinal detachment and increased echogenicity within the posterior segment in both eyes. The left globe appeared microphthalmic with an anterior-posterior diameter of 16.42mm versus 21.88mm in the right eye. The affected male was subsequently re-examined, the left eye appeared relatively unchanged whereas the corneal pathology had advanced to diffuse corneal degeneration with neovascularisation and dense crystalline stromal deposits in the right eye .... Microphakia was evident along with incipient nuclear cataract being present ... . On clinical examination the dog was found to be cryptorchid at 10 months old.\"","defect":true,"group_name":"Retinal dysplasia, NDP-related","inheritance":{"code":"XLR","name":"X-linked recessive"},"inheritance_text":"Pedigree analysis in a small family was consistent with an X-linked recessive mode of inheritance (Joyce et al., 2021).","mondo_terms":[],"name":"","omia_group_id":2348,"omia_phene_id":4520,"omia_record_id":"OMIA:002348-9615","publication_ids":[121599,125219,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4520","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Coat colour, phaeomelanin dilution, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2350,"omia_phene_id":4526,"omia_record_id":"OMIA:002350-9615","publication_ids":[121693],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4526","source_release":"retrieved-2026-09-12","summary":"Slavney et al. (2021): \"In order to gain further insight into the extent of multigenicity and epistatic interactions underlying coat pheomelanin intensity in dogs, we leveraged a large dataset obtained via a direct-to-consumer canine genetic testing service. This consisted of genome-wide single nucleotide polymorphism (SNP) genotype data and owner-provided photos for 3,057 pheomelanic mixed breed and purebred dogs from 63 breeds and varieties spanning the full range of canine coat pheomelanin intensity. We first performed a genome-wide association study (GWAS) on 2,149 of these dogs to search for additional genetic variants that underlie intensity variation. GWAS identified five loci significantly associated with intensity, of which two (CFA15 29.8 Mb and CFA20 55.8 Mb) replicate previous findings [OMIA 002197-9615, OMIA 002228-9615] and three (CFA2 74.7 Mb, CFA18 12.9 Mb, CFA21 10.9 Mb) have not previously been reported. In order to assess the combined predictive power of these loci across dog breeds, we used our GWAS data set to fit a linear model, which explained over 70% of variation in coat pheomelanin intensity in an independent validation dataset of 908 dogs.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Rhodesian Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201135"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Prostatic hyperplasia, benign","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2355,"omia_phene_id":4542,"omia_record_id":"OMIA:002355-9615","publication_ids":[121615,121754,121755,126511,127448,129987,130131,130370,130372,130421],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4542","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Entlebucher Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200503"}],"characterised":true,"characterised_year":2019,"clinical_features":"","defect":false,"group_name":"Fecundity, GDF9-related","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Torrecilha et al. (2020): \"The trait [average litter size] heritability was estimated at 43.1%, from which approximately 15% was accountable by the GDF9 locus alone. Therefore, markers flanking GDF9 explained approximately 6.5% of the variance in ALS.\"","mondo_terms":[],"name":"","omia_group_id":2362,"omia_phene_id":4554,"omia_record_id":"OMIA:002362-9615","publication_ids":[120412,125653],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4554","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Giant Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200604"},{"name":"Schnauzer, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201189"}],"characterised":true,"characterised_year":2014,"clinical_features":"Harmon et al. (2017): \"describe the clinical features of DCM in standard schnauzers. Medical records for 15 standard schnauzers diagnosed with DCM were reviewed. The median age at diagnosis of DCM was 1.6 yr, with all dogs developing left-sided congestive heart failure (CHF). The median age of onset of CHF was 1.6 yr, and was significantly shorter in males (1.5 yr) than for females (2.35 yr). The median survival time after diagnosis of CHF was 22 days, and was shorter in males (13 days) than females (62 days).\" Median lifespan is shorter (3.06 years) in standard schnauzers homozygous for the mutation compared to those heterozygous (15.11 years) or wild-type (15.18 years) (Leach et al., 2022) [IT thanks DVM student Caitlin Henning for contribution to this entry in April 2022].","defect":true,"group_name":"Cardiomyopathy, dilated, RBM20-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Harmon et al. (2017): \"The occurrence of early onset DCM [dilated cardiomyopathy] in multiple closely related standard schnauzers suggests a familial predisposition in this breed. Pedigree analysis confirmed common ancestry for all DCM affected dogs with a most likely autosomal recessive mode of inheritance.\"","mondo_terms":[],"name":"","omia_group_id":2365,"omia_phene_id":4561,"omia_record_id":"OMIA:002365-9615","publication_ids":[117367,121830,121831,122775,123248,123426,125623],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4561","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Belgian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200144"}],"characterised":true,"characterised_year":2021,"clinical_features":"The severity of the clinical phenotype is variable. The four affected dogs of the index family developed uncoordinated movements and intention tremor at two weeks of age. Due to the severity of their clinical signs, they were euthanized at 27 days of age. Another affected dog developed ataxia as a puppy, but remained in a relatively stable condition (with pronounced ataxia) and reached an age of 10 years (Christen et al. 2021).","defect":true,"group_name":"Ataxia, cerebellar, SELENOP-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"CNS atrophy with cerebellar ataxia","omia_group_id":2367,"omia_phene_id":4563,"omia_record_id":"OMIA:002367-9615","publication_ids":[121904,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4563","source_release":"retrieved-2026-09-12","summary":"Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes an ataxia form that is caused by genetic variants in the SELENOP gene. Considerable genetic heterogeneity exists and variants in more than 30 other genes can lead to clinically similar phenotypes (Cocostîrc et al. 2023; Stee et al. 2023). Thus locus heterogeneity for this phenotype must be considered. In Belgian Shepherds, variants in KCNJ10 and ATP1B2 lead to clinically similar ataxia forms termed SDCA1 and SDCA2.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":true,"characterised_year":2022,"clinical_features":"Kiener et al. (2022) \"affected dogs had large white to grey and powdery to adherent scale throughout the hair coat. The abdominal skin was mildly hyperpigmented. Thick white scale was adherent to the concave surface of the pinnae.\" According to anecdotal reports from breeders, the scaling in ICH2-affected Golden Retrievers may be more severe and adherent than in Golden Retrievers with the PNPLA1-related from of ichthyosis (Kiener et al. 2022).","defect":true,"group_name":"Ichthyosis, ABHD5-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Golden Retriever ichthyosis type 2","omia_group_id":2368,"omia_phene_id":4564,"omia_record_id":"OMIA:002368-9615","publication_ids":[122821,123125,132569],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4564","source_release":"retrieved-2026-09-12","summary":"Kiener et al. (2022) \"investigated 14 Golden Retrievers with scales that were not homozygous for the mutant PNPLA1 allele suggesting a genetically distinct new form of ichthyosis.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"German Longhaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200570"}],"characterised":false,"characterised_year":null,"clinical_features":"Yu et al. (2021): \"The age of diagnosis ranged between 4.5 and 13.5 years, and 76% of cases were diagnosed before 10 years of age, implying an early onset of disease.\"","defect":true,"group_name":"Thyroid follicular cell carcinoma, predisposition to","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"Yu et al (2021): \"45 of 54 histopathologically confirmed cases are closely related to a pair of first-half cousins in the past, indicating a familial disease. In addition, genetics contributed more to the thyroid follicular cell carcinoma than other factors by an estimated heritability of 0.62 based on pedigree. ... We observed a significant higher pedigree-based inbreeding coefficient in the affected dogs (mean F 0.23) compared to unaffected dogs (mean F 0.14), suggesting the contribution of inbreeding to tumour development.\"","mondo_terms":[],"name":"","omia_group_id":2380,"omia_phene_id":4590,"omia_record_id":"OMIA:002380-9615","publication_ids":[121916,122283,123693,132025],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4590","source_release":"retrieved-2026-09-12","summary":"Yu et al. (2021) described familial thyroid follicular cell carcinomas in Dutch German longhaired pointers (GLPs).\r\nYu et al. (2021) \"investigated the genetic causes of the disease using a combined approach of genome-wide association study and runs of homozygosity (ROH) analysis based on 170k SNP array genotype data and whole-genome sequences.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dachshund, Miniature Wire-Haired (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200411"}],"characterised":true,"characterised_year":2021,"clinical_features":"Mischke et al. (2021): “Three seven-week-old miniature wire-haired Dachshunds were presented … with excessive bleedings after fitting with a chip two days before. Two puppies were female and one male. One female died a few days later due to severe bleedings. The second female puppy survived up to an age of one year. Owners reported recurrent episodes with severe bleedings in the skin and gums. The third affected male puppy is under intensive veterinary care and still alive at the age of seven years despite intermittent severe bleeding episodes. … Case 4 … died from a hemoabdomen after a traumatic splenic rupture.\"","defect":true,"group_name":"Afibrinogenaemia, FGA-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0008737","iri":"http://purl.obolibrary.org/obo/MONDO_0008737","label":"congenital afibrinogenemia"}],"name":"","omia_group_id":2382,"omia_phene_id":4592,"omia_record_id":"OMIA:002382-9615","publication_ids":[121931],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4592","source_release":"retrieved-2026-09-12","summary":"Mischke et al. (2021): “we present a family of miniature wire-haired Dachshunds segregating for congenital afibrinogenemia. We employed homozygosity mapping, a genome-wide association study (GWAS), and sequencing of fibrinogen genes in order to identify a mutation responsible for afibrinogenemia.”","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Hypercalciuria, idiopathic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Calcium oxalate urolithiasis","omia_group_id":2384,"omia_phene_id":4594,"omia_record_id":"OMIA:002384-9615","publication_ids":[121955,121956,121957,123979],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4594","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pyometra, predisposition to","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2391,"omia_phene_id":4608,"omia_record_id":"OMIA:002391-9615","publication_ids":[122009,122010,122011,122012,124736,125148,126307,129137,130492],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4608","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Liver fibrosis, congential, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2392,"omia_phene_id":4609,"omia_record_id":"OMIA:002392-9615","publication_ids":[122013,122014,122015],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4609","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Keratoconjunctivitis sicca","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"Keratoconjunctivitis sicca (KCS) is an abnormality of the tear film attributed to deficiency of the aqueous portion of the tears. Progressive KCS may result in ocular surface irritation and/or vision impairment via corneal opacification. Also called dry eye.","omia_group_id":2393,"omia_phene_id":4613,"omia_record_id":"OMIA:002393-9615","publication_ids":[122038,122039,122040,125219,126600,128784,129746,130192,132208],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4613","source_release":"retrieved-2026-09-12","summary":"Genetics Committee of the American College of Veterinary Opthalmologists: Keratoconjunctivitis sicca (KCS) is \"an abnormality of the tear film attributed to deficiency of the aqueous portion of the tears. Progressive KCS may result in ocular surface irritation and/or vision impairment via corneal opacification. Also called dry eye.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Choroid plexus tumour","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2403,"omia_phene_id":4631,"omia_record_id":"OMIA:002403-9615","publication_ids":[122137],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4631","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Brussels Griffon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200241"},{"name":"Italian Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200713"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Vitreous degeneration","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2409,"omia_phene_id":4642,"omia_record_id":"OMIA:002409-9615","publication_ids":[121884,124236,125219],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4642","source_release":"retrieved-2026-09-12","summary":"Krishnan et al. (2019) reported \"a retrospective study of 4217 dogs from the Companion Animal Eye Registry (CAER) that underwent breed screening ophthalmic examinations between 2013 and 2016. The breeds analyzed included the Italian Greyhound, Shih Tzu, Affenpinscher, Bichon Frise, Brussels Griffon, Whippets, and Greyhound. Data collected from CAER included age, gender, number of examinations, and whether vitreous degeneration, along with cataracts, lens luxation, glaucoma and/or retinal detachment were present in either or both eyes. ... The study found that breed and age are significant drivers for developing VD. Italian Greyhounds, Brussels Griffons, and Shih Tzus have a significantly higher likelihood of VD compared to the negative control breed, the Greyhound. ... However, no association was identified between vitreous degeneration and cataracts, lens luxation, glaucoma, or retinal detachment.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Agenesis, renal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2007,"omia_phene_id":4676,"omia_record_id":"OMIA:002007-9615","publication_ids":[1276,122343,132744],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4676","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Chinese Shar-Pei (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200351"}],"characterised":true,"characterised_year":2022,"clinical_features":"Affolter et al. 2022: \"A 3-months old male Chinese shar-pei was presented for scaly skin and reduced overall body growth when compared with his 3 littermates ... At the time of presentation severe generalized scaling and alopecia was noted, with scaling most prominent on the head, neck, abdomen, legs, axillary folds and paws. Prominent follicular fronds accompanied surface scaling. The paw pads appeared deformed and hyperkeratotic. Pruritus was not observed. The left eye had an entropium. Skin scrapings for Demodex mites were negative. Skin cytology revealed numerous yeast organisms.\"","defect":true,"group_name":"Ichthyosis, KRT1-related","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[],"name":"Non-epidermolytic ichthyosis","omia_group_id":2425,"omia_phene_id":4678,"omia_record_id":"OMIA:002425-9615","publication_ids":[123125,123732],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4678","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dachshund, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200408"},{"name":"Rhodesian Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201135"}],"characterised":true,"characterised_year":2021,"clinical_features":"Christen et al. (2021): A 1-month-old, female, smooth-haired miniature Dachshund with dilute color and neurological defects was investigated. ... The puppy had visible coat color dilution and was unable to hold its head on its own or to remain in a stable prone position for an extended period.\"","defect":true,"group_name":"Dilute coat color with neurological defects","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Dilute coat color with neurological defects","omia_group_id":1501,"omia_phene_id":4679,"omia_record_id":"OMIA:001501-9615","publication_ids":[47216,122695,123125,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4679","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Cairn Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200267"},{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"Norfolk Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200945"}],"characterised":true,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Thrombocytopenia, TUBB1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"From segregation analysis of 16 families of Cavalier King Charles Spaniels [CKCS] in which this disorder was segregating, Pedersen et al. (2002) concluded that \" idiopathic, asymptomatic thrombocytopenia in CKCS is inherited in an autosomal recessive manner. The condition most likely constitutes an inherited macrothrombocytopenia in dogs\".","mondo_terms":[],"name":"","omia_group_id":2434,"omia_phene_id":4721,"omia_record_id":"OMIA:002434-9615","publication_ids":[47924,76703,100018,107606,109383,109577,112246,116196,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4721","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"}],"characterised":true,"characterised_year":2012,"clinical_features":"As summarised by Neff et al. (2012): \"Affected pups soon exhibit abducted hind limbs, enlarged joints, dorsoventral flattening of the rib cage, shortened and bent long bones, undershot jaws, and elongated and misshapen paws that resemble clubfoot . . . . Radiographic stippling is found at the epiphyses, reflecting aberrant conversion of cartilage to bone. The vertebrae are often beaked at their ventral surface, a clinical hallmark of several human skeletal dysplasias. The stiffness of joints that is profound in young affected dogs lessens with maturation, but mobility remains restricted and arthritis is a common sequelae.\"","defect":true,"group_name":"Chondrodysplasia, SLC13A1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Osteochondrodysplasia; pseudoachondroplastic dysplasia","omia_group_id":1400,"omia_phene_id":4732,"omia_record_id":"OMIA:001400-9615","publication_ids":[1275,113468,113470,113471,113473,122510],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4732","source_release":"retrieved-2026-09-12","summary":"Information relating to this phene was initially listed under OMIA 001315-9615 : Osteochondrodysplasia in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"Manchester Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200862"}],"characterised":true,"characterised_year":2021,"clinical_features":"In affected dogs with MOCOS deficiency excess xanthine builds up in the urine, a product which has a low solubility and readily precipitates out of urine, creating xanthine calculi (Furrow et al., 2016). These calculi act similar to most uroliths, creating partial or complete urethral obstruction, resulting in intermittent or consistent stranguria and dysuria, and may result in secondary renal damage (Furrow et al., 2016). In the dogs investigated by Tate et al. (2021) \"age at first diagnosis ranged from 7 weeks to 4 years.\"\r\nIT thanks DVM student Cameron Stuart, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Xanthinuria, type II","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Tate et al. (2021) conducted pedigree analysis in Manchester Terriers and their findings were consistent with autosomal recessive inheritance.","mondo_terms":[{"id":"MONDO:0011346","iri":"http://purl.obolibrary.org/obo/MONDO_0011346","label":"xanthinuria type II"}],"name":"Xanthine urolithiasis; xanthine nephrolithiasis","omia_group_id":1819,"omia_phene_id":4735,"omia_record_id":"OMIA:001819-9615","publication_ids":[75793,77270,78803,83995,114682,120987,120988,122517,122518],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4735","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2021,"clinical_features":"","defect":true,"group_name":"Xanthinuria, type I","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2445,"omia_phene_id":4736,"omia_record_id":"OMIA:002445-9615","publication_ids":[114682,119911,120987,122517],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4736","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Alanine aminotransferase, reduced activty","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"reduced ALT levels","omia_group_id":2446,"omia_phene_id":4737,"omia_record_id":"OMIA:002446-9615","publication_ids":[122522,122523,125587],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4737","source_release":"retrieved-2026-09-12","summary":"White et al. (2015): \"From a cohort of dogs that had been previously genotyped on a semi-custom Illumina CanineHD array for various genome-wide association studies (GWAS) ..., we chose 353 clinically healthy, adult dogs for our analysis of clinical pathologic test results (14 hematological tests and 25 clinical chemistry tests). After correcting for age, body weight and sex, genetic associations were identified for amylase, segmented neutrophils, urea nitrogen, glucose, and mean corpuscular hemoglobin. Additionally, a strong genetic association (P = 8.1×10-13) was evident between a region of canine chromosome 13 (CFA13) and alanine aminotransferase (ALT), explaining 23% of the variation in ALT levels. This region of CFA13 encompasses the GPT gene that encodes the transferase. Dogs homozygous for the derived allele exhibit lower ALT activity, making increased ALT activity a less useful marker of hepatic injury in these individuals.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Bouvier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200206"},{"name":"English Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200485"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Siberian Husky (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201233"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Leg weakness","inheritance":null,"inheritance_text":"Tomihari et al. (2022): \"The heritability of the swimmer-puppy onset trait was 0.80\" in Labrador retrievers.","mondo_terms":[],"name":"Swimmer syndrome, swimming pup syndrome, swimming puppy syndrome","omia_group_id":585,"omia_phene_id":4745,"omia_record_id":"OMIA:000585-9615","publication_ids":[48909,122591,122592,122593,122594,122595,123166,125796,127232,133329],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4745","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"German Shorthaired Pointer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200583"}],"characterised":false,"characterised_year":null,"clinical_features":"Olivry et al. (1997) \"Acral, auricular and oral erosions and ulcers were observed. Severe ulceration of the footpads was present.\"","defect":true,"group_name":"Epidermolysis bullosa, junctionalis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":342,"omia_phene_id":4758,"omia_record_id":"OMIA:000342-9615","publication_ids":[77012,124289],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4758","source_release":"retrieved-2026-09-12","summary":"Olivry et al. (1997) \"describe the existence of a previously unreported form of familial localized non-lethal JEB in German Shorthaired Pointer littermates. ... The defective expression of collagen XVII is likely to be caused by mutation(s) of the COL17A1 gene, as previously reported in humans.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Italian Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200713"},{"name":"Staffordshire Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201296"}],"characterised":true,"characterised_year":2021,"clinical_features":"\"The affected [Italian Greyhound] dog presented with an abnormal short-strided gait, generalized muscle atrophy, and poor growth since 2-months of age. Serum biochemistry revealed a marked elevation in creatine kinase activity. Electrodiagnostic testing supported a myopathy. ... Physical examination revealed a poor body condition score (1/9) with generalized skeletal muscle atrophy. The dog would stand with mild kyphosis and valgus deformities. When ambulating the dog would maintain this posture, show a stiff pelvic limb gait with limited flexion of both stifles and hocks, and would externally rotate both tarsi during the early swing phase while externally rotating the stifles during the postural stance phase. The patellar reflexes were decreased bilaterally and the withdrawal reflexes were mildly decreased in the thoracic limbs. ... At 8 months of age, the gait worsened with intermittent, bilateral pelvic limb lameness. A repeat orthopedic examination revealed grade 3 and grade 2 patellar luxation on the left and right pelvic limb, respectively. Body condition score remained poor at 2/9. The dog was still alive at the time of manuscript submission, at one year and six months of age. At that stage, he was occasionally stumbling in the thoracic limbs and was coping with two walks a day of approximately 1800 meters each. Occasionally, he was taken for approximately 4000 m walks on top of his regular walks, after which he seemed tired.\" (Christen et al. 2021). Shelton et al. (2022): \"The [FS Staffordshire terrier] dog of this report presented for clinical evaluation at 2 years of age; however, clinical signs of weakness, stiff gait, and reduced jaw mobility had been present since the dog was adopted from a shelter at a few months of age. The history, neurological examination, increases in CK, electromyography abnormalities, and pathological changes on muscle biopsy were consistent with a chronic and progressive dystrophic myopathy. ... . Neither cranial nerve abnormalities nor behavioral changes were identified ...\"","defect":true,"group_name":"Congenital muscular dystrophy, LAMA2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2459,"omia_phene_id":4759,"omia_record_id":"OMIA:002459-9615","publication_ids":[122842,122877],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4759","source_release":"retrieved-2026-09-12","summary":"Muscular dystrophy due to causal variants in LAMA2 is one of several inherited forms of muscular dystrophy in dogs.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2021,"clinical_features":"\"Four affected Labrador retriever puppies ... were evaluated for small stature, poor weight gain, bow legged stance, poor suckling, and weakness. In the first week 4 pups required supplemental tube feeding due to poor weight gain, and difficulties in prehension of food and swallowing. One of these 4 pups died during the first week and another pup was euthanized at 2.5 weeks of age. At the time of euthanasia at 6 weeks of age, body weights of the two remaining affected pups were half that of the normal pups (1.3 and 1.4 kg compared to 2.7–2.9 kg). ... Serum CK activities were markedly elevated in all affected pups ranging from 10,587 to 23,638 IU/L (reference 59–895 IU/L).\" (Shelton et al. 2021)","defect":true,"group_name":"Muscular dystrophy-dystroglycanopathy, LARGE1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2460,"omia_phene_id":4760,"omia_record_id":"OMIA:002460-9615","publication_ids":[122682,122683],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4760","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Caudal cruciate ligament disease","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2463,"omia_phene_id":4763,"omia_record_id":"OMIA:002463-9615","publication_ids":[122675],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4763","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"Dogo Argentino (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200445"}],"characterised":true,"characterised_year":2021,"clinical_features":"Rudd Garces et al. (2021) \"investigated a family of nine Dogo Argentino dogs, in which two dogs were affected by disproportionate dwarfism. Radiographs of an affected dog revealed a decreased level of endochondral ossification in its growth plates, and a premature closure of the distal ulnar physes.\"
Mäkeläinen et al. (2025): \"affected [Dalmation] dogs had short legs and showed clear gait abnormalities. The front legs were curved with an outward-angled elbow joint and an outward rotation of the paw. Due to the severity of the condition, the affected dogs were euthanized ....\"","defect":true,"group_name":"Dwarfism, PRKG2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Rudd Garces et al. (2021) reported evidence consistent with autosomal recessive inheritance.","mondo_terms":[],"name":"","omia_group_id":1485,"omia_phene_id":4767,"omia_record_id":"OMIA:001485-9615","publication_ids":[122697,131148],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4767","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Italian Cane Corso (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200712"}],"characterised":true,"characterised_year":2021,"clinical_features":"Christen et al. (2021): \"Affected dogs developed dental-skeletal-retinal anomaly (DSRA), clinically characterized by brittle, discolored, translucent teeth, disproportionate growth and progressive retinal degeneration resulting in vision loss.\"","defect":true,"group_name":"Dental-skeletal-retinal anomaly, MIA3-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2465,"omia_phene_id":4768,"omia_record_id":"OMIA:002465-9615","publication_ids":[122698,122699,122700,125653,126610,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4768","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":true,"characterised_year":2021,"clinical_features":"","defect":false,"group_name":"Hyperlipidaemia/atherosclerosis, APOE-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2063,"omia_phene_id":4785,"omia_record_id":"OMIA:002063-9615","publication_ids":[122718,123798,123799,123800],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4785","source_release":"retrieved-2026-09-12","summary":"Zhao et al. (2021) \"report hypercholesterolemia [hypercholesterolaemia] and severe atherosclerosis characterized by stenosis and occlusion of arteries, together with clinical manifestations of stroke and gangrene, in ApoE knockout dogs generated by CRISPR/Cas9 and cloned by somatic cell nuclear transfer technologies.\"\r\n\r\nThis study involves genetically modified organisms (GMO).","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Lymphangiosarcoma","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2476,"omia_phene_id":4807,"omia_record_id":"OMIA:002476-9615","publication_ids":[122782,124712],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4807","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"}],"characterised":true,"characterised_year":2021,"clinical_features":"Hitti-Malin et al. (2021):\" In addition to PRA, additional clinical features in homozygous dogs support the discovery of a novel syndromic PRA in the breed.\"","defect":true,"group_name":"Bardet-Biedl syndrome 2","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2484,"omia_phene_id":4816,"omia_record_id":"OMIA:002484-9615","publication_ids":[122856,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4816","source_release":"retrieved-2026-09-12","summary":"Hitti-Malin et al. (2021) \"elucidate the causal variant for a distinct form of [progressive retinal atrophy] PRA in the Shetland sheepdog, using a whole-genome sequencing approach.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"American Eskimo Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200046"},{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Landseer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200809"}],"characterised":true,"characterised_year":2007,"clinical_features":"Variants in the gene that encodes CalDAG-GEFI cause decreased fibrinogen receptor activation (Cortese et al., 2020) and severely impaired or absent platelet aggregation response to adenosine diphosphate, collagen, and platelet activating factor (Boudreaux et al., 2007). There is also a delayed but full response to thrombin (Boudreaux, 2012). The clot retraction assay is normal (Boudreaux, 2012), but the kinetics are impaired – the time to full aggregation is prolonged to 4-6min compared to 3min in unaffected dogs (Cortese et al., 2020). Clinically, affected dogs experience epistaxis, gingival bleeding and petechiation on mucous membranes and skin, and prolonged bleeding time (Boudreaux et al., 2007). Platelet counts and coagulation screening tests will have normal results (Boudreaux, 2012). Some affected Basset Hounds may present with weakness and rear limb paralysis secondary to spinal cord haemorrhage (Boudreaux, 2012). IT thanks DVM student Jovial Zheng, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Thrombopathia, RASGRP2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0014386","iri":"http://purl.obolibrary.org/obo/MONDO_0014386","label":"platelet-type bleeding disorder 18"}],"name":"CalDAG-GEFI thrombopathia; CalDAG-GEFI platelet disorder","omia_group_id":2433,"omia_phene_id":4892,"omia_record_id":"OMIA:002433-9615","publication_ids":[21300,48072,109385,109482,109569,113685,116410,124969],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4892","source_release":"retrieved-2026-09-12","summary":"Boudreaux et al. (2007) reported likely causal variants in Calcium-Diacylglycerol Guanine Nucleotide Exchange Factor I (CalDAG-GEFI). Based on NCBI information the gene name was listed as RASGRP1 gene in OMIA. A recent BLAST search of the published data identified that the correct gene name is RASGRP2. Information from OMIA 001003-9615 'Thrombopathia in Canis lupus familiaris' was moved to this entry and variant table information was updated accordingly [22/01/2022].","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Norwegian Elkhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200955"}],"characterised":true,"characterised_year":2022,"clinical_features":"Bellamy et al. (2022): \"Owners reported an abnormal gait, especially in the pelvic limbs, of the affected dogs from around 4 weeks of age. The puppies were said to be unsteady, easily slipping on the floor with the pelvic limbs, occasionally falling over. In addition, they all had a hanging tail instead of the curled tail normal for this spitz breed. ... On neurological examination, the body posture was kyphotic with a broad-based pelvic limb stance. The gait was moderately ataxic with hypermetric tendencies, most prominent in the pelvic limbs.\"","defect":true,"group_name":"Ataxia, HACE1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Pedigree analysis of eight affected dogs from 5 litters suggested an autosomal recessive mode of inheritance (Bellamy et al., 2022)","mondo_terms":[],"name":"","omia_group_id":2522,"omia_phene_id":4896,"omia_record_id":"OMIA:002522-9615","publication_ids":[123049,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4896","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Anal gland disease","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"anal sac disease; anal sacculitis","omia_group_id":2523,"omia_phene_id":4899,"omia_record_id":"OMIA:002523-9615","publication_ids":[118172,123061,123062,123063,123064,123065],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4899","source_release":"retrieved-2026-09-12","summary":"Breed predispositions have been reported.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":true,"characterised_year":2022,"clinical_features":"","defect":false,"group_name":"Height, IGF1-AS-associated body-size variation","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2524,"omia_phene_id":4901,"omia_record_id":"OMIA:002524-9615","publication_ids":[119103,123077,123078,125653],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4901","source_release":"retrieved-2026-09-12","summary":"Plassais et al. (2022): “Domestic dogs (Canis lupus familiaris) are the most variable-sized mammalian species on Earth … . Analyses of over 200 domestic breeds have identified approximately 20 body size genes … . Of these, insulin-like growth factor 1 (IGF1) predominates, controlling approximately 15% of body size variation between breeds [Plassais et al., 2019]. …, to identify and elucidate the role of an ancestral IGF1 allele in the propagation of modern canids, we analyzed 1,431 genome sequences from 13 species, including both ancient and modern canids, thus allowing us to define the evolutionary history of both ancestral and derived alleles at this locus. We identified a single variant [SNP rs22397284; chr15:41219654.g.TOMIA:001758-9615 - Cataract, early onset, HSF4-related' and 'OMIA:000168-9615 -Cataract, generic'.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"}],"characterised":true,"characterised_year":2017,"clinical_features":"Tachypnea and noisy respiration. Shortly before death: respiratory distress, characterized by strenuous and rapid respirations, together with cyanosis and vomiting.","defect":true,"group_name":"Respiratory distress syndrome, ANLN-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Eleven affected dogs were from 4 litters, all having a common ancestor. Segregation analysis suggested autosomal recessive inheritance. (Jarvinen et al., 2009)","mondo_terms":[],"name":"Also known as Acute respiratory distress syndrome (ARDS)","omia_group_id":2539,"omia_phene_id":4943,"omia_record_id":"OMIA:002539-9615","publication_ids":[58803,117504,117505],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4943","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"},{"name":"Cairn Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200267"},{"name":"Cardigan Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200290"},{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"},{"name":"Dandie Dinmont Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200429"},{"name":"Lancashire Heeler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200808"},{"name":"Norwich Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200962"},{"name":"Pekingese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200994"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"},{"name":"Petit Basset Griffon Vendeen (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201009"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"},{"name":"Skye Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201240"},{"name":"Swedish Vallhund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201316"},{"name":"Tibetan Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201352"},{"name":"West Highland White Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201415"}],"characterised":true,"characterised_year":2009,"clinical_features":"Even though chondrodysplasia is normally regarded as a defect, this canine mutation is not classified as a defect because, as noted by Parker et al. (2009), it is a \"a short-legged phenotype that defines at least 19 dog breeds including dachshund, corgi, and basset hound\".","defect":false,"group_name":"Chondrodysplasia, FGF4 retrogene-related","inheritance":{"code":"A","name":"Autosomal"},"inheritance_text":"Bannasch et al. (2022): \"Using individual measurements of height at the shoulder, back length, head width, thorax depth and width, and thoracic limb measurements, we evaluated the combined effects of FGF4 retrogenes [FGF4L1 and FGF4L2] within\" two breeds that segregate both retrogenes, namely Alpine Dachsbracke and the Schweizer Niederlaufhund. They found that \"both retrogenes had significant effects reducing height at the shoulders and antebrachial length, with FGF4L1 having a much greater effect than FGF4L2. FGF4L1 alone influenced the degree of carpal valgus and FGF4L2 alone increased head width. Neither retrogene had an effect on thorax width or depth.\"","mondo_terms":[],"name":"","omia_group_id":2542,"omia_phene_id":4947,"omia_record_id":"OMIA:002542-9615","publication_ids":[3989,109172,109832,109833,111402,117799,117800,117801,120869,123130,124358,129079],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4947","source_release":"retrieved-2026-09-12","summary":"\"Two FGF4 retrogenes (FGF4L1 on chromosome 18 [omia.variant:694] and FGF4L2 on chromosome 12 [omia.variant:853]) have been identified to cause dwarfism across many dog breeds. Some breeds are nearly homozygous for both retrogenes (e.g., Dachshunds) and others are homozygous for just one (e.g., Beagles and Scottish Terriers)\" (Bannasch et al., 2022)","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Repetitive behaviour","inheritance":null,"inheritance_text":"Sulkama et al. (2022) \"identified breed differences in repetitive behaviour, suggesting that some breeds are more vulnerable to repetitive behaviour and indicate a genetic susceptibility\".","mondo_terms":[],"name":"","omia_group_id":2545,"omia_phene_id":4950,"omia_record_id":"OMIA:002545-9615","publication_ids":[123154,126029],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4950","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Swimmer puppy syndrome (redundant)","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2546,"omia_phene_id":4952,"omia_record_id":"OMIA:002546-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4952","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Rhodesian Ridgeback (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201135"}],"characterised":true,"characterised_year":2022,"clinical_features":"Kawakami et al. (2022): \"Rhodesian Ridgebacks exhibit a progressive postnatal deafness which may be observed as early as four months of age but more commonly observed within 1–2 years after birth . . . . This form of deafness, hereafter referred to as early onset adult deafness (EOAD), does not appear to be restricted to a specific bloodline because it has been identified in multiple Rhodesian Ridgeback populations, including North America, Europe, and Africa. . . . All affected dogs are visually indistinguishable from dogs with normal hearing by having fully pigmented coat, eyes, and noses, indicating that EOAD in Rhodesian Ridgebacks likely has a different genetic basis from pigmentation-related deafness.\" In their 2022 study, Kawakami et al. \"identified 23 EOAD-affected Rhodesian Ridgebacks (11 males and 12 females) that were confirmed deaf by BAER testing; these dogs lost their hearing approximately from 6 months to 24 months after birth. All of the dogs were bilaterally deaf.\"","defect":true,"group_name":"Deafness, EPS8L2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Kawakami et al. (2022) reported that \"A segregation pattern of this deletion in a 2-generation nuclear family indicated an autosomal recessive mode of inheritance.\"","mondo_terms":[],"name":"Early onset adult deafness","omia_group_id":2550,"omia_phene_id":4956,"omia_record_id":"OMIA:002550-9615","publication_ids":[113443,119930,123175,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4956","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Bull Mastiff (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200253"}],"characterised":true,"characterised_year":2022,"clinical_features":"Carmichael et al. (1983) provided the first clinical and pathological description of the disease. The most striking findings were ataxia, visual impairment and changes in behaviour. Cristen et al. (2022) \"investigated two young Bullmastiffs showing similar clinical signs. They developed progressive gait and behavioural abnormalities with an onset at around 6 months of age. Neurological assessment was consistent with a multifocal brain disease. Magnetic resonance imaging of the brain showed intra-axial bilateral symmetrical focal lesions localised to the cerebellar nuclei. Based on the juvenile age, nature of neurological deficits and imaging findings, an inherited disorder of the brain was suspected.\"","defect":true,"group_name":"Mitochondrial fission encephalopathy","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"As reported by Cristen et al. (2022), evidence for autosomal recessive inheritance of this disorder in Bullmastiffs was provided by Carmichael et al. (1983). Cristen et al. (2022) reported that \"Genotypes [at the MFF locus] in a cohort of four affected and 70 unaffected Bullmastiffs showed perfect [autosomal recessive] segregation with the disease phenotype. . . . All four available cases were homozygous mutant, one obligate carrier was heterozygous and none of the 70 unaffected dogs were homozygous for the mutant allele.\"","mondo_terms":[{"id":"MONDO:0014905","iri":"http://purl.obolibrary.org/obo/MONDO_0014905","label":"encephalopathy due to defective mitochondrial and peroxisomal fission 2"}],"name":"Mitochondrial fission encephalopathy; familial cerebellar ataxia with hydrocephalus","omia_group_id":2551,"omia_phene_id":4957,"omia_record_id":"OMIA:002551-9615","publication_ids":[123218,123219,123610,123611,127478],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4957","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"}],"characterised":true,"characterised_year":2022,"clinical_features":"Kiener et al. (2022): \"An 18-month-old spayed female Chihuahua was referred to the dermatology consultation for suspicion of EDS. The first clinical signs were noted on both eyes during puppyhood, at which time the dog was presented to the ophthalmologist with a diagnosis of corneal endothelial dystrophy. Moreover, its skin was hyperextensible . . . and abnormalities were noted on the face around the eyes and on the extremities where the skin was fragile and tore easily after scratching or rubbing . . . . Several episodes of wounds on the trunk after minor injuries or scratching were also reported\".","defect":true,"group_name":"classical Ehlers-Danlos syndrome (cEDS), COL5A2-related","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"Kiener et al. (2022): \"The genotyping results of both parents revealed that COL5A2:c.3388_3414del represented a de novo variant as the mutant allele was absent from buccal cell DNA of both parents.\"","mondo_terms":[{"id":"MONDO:0019568","iri":"http://purl.obolibrary.org/obo/MONDO_0019568","label":"Ehlers-Danlos syndrome, classic type, 2"}],"name":"classical Ehlers-Danlos syndrome (cEDS), COL5A2-related; Ehlers-Danlos syndrome, classic type, 2","omia_group_id":2295,"omia_phene_id":4959,"omia_record_id":"OMIA:002295-9615","publication_ids":[123348,123365,132518],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4959","source_release":"retrieved-2026-09-12","summary":"This phene has been renamed from \"Ehlers-Danlos syndrome, classic type, 2\" to \"classical Ehlers-Danlos syndrome (cEDS), COL5A2-related\" in OMIA on the basis of the review on human Ehlers-Danlos syndromes by Malfait et al. (2020) [2/6/2022].","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"}],"characterised":true,"characterised_year":2022,"clinical_features":"Abitbol et al. 2022 reported \"The owners noticed the first signs between 4 and 19 months. They described hypermetria, bunny-hopping, wobbly and stiff gait on the pelvic limbs, and difficulties in walking up or down the stairs and in getting up. The initial neurological examination revealed moderate ataxia, more obvious on the pelvic limbs, with slight hypermetria and slight to no proprioceptive deficits on the pelvic limbs. Two of the five dogs showed discrete intention tremors. These signs suggested symmetrical cerebellar involvement. Motor deficits progressed toward the inability to walk without help from the age of 30 to 44 months. Neurological examination at this stage revealed non-ambulatory tetraparesis or tetraplegia. Severe spasticity of the hind limbs and proprioceptive deficits on all four limbs were present in all affected dogs. An absent menace-response was observed in two dogs. Neuroanatomical diagnosis was therefore suggestive of multifocal central nervous system damage. ... Four of the five affected dogs were euthanized between24 and 39 months of age.\"","defect":true,"group_name":"Myeloencephalopathy, progressive degenerative, PNPLA8-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"hereditary ataxia","omia_group_id":827,"omia_phene_id":4971,"omia_record_id":"OMIA:000827-9615","publication_ids":[123435,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4971","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Cardigan Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200290"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"}],"characterised":true,"characterised_year":2022,"clinical_features":"The severity of the clinical phenotype depends on the specific KRT5 variant. Kiener et al. (2022) \"examined a Cardigan Welsh Corgi puppy [heterozygous for p.E476K] with skin blistering and erosions that were noticed shortly after birth. It was one of a litter of three puppies, in which both other littermates and the parents were healthy. The affected dog was smaller than the littermates. Vesicles and ulcers were extensively present in the oral cavity, lips and paw pads . . . . Gentle pressure on the skin near affected areas would result in sloughing of the adjacent epidermis (positive Nikolsky sign; ...). The puppy was given supplementary nutrition and adopted by a veterinarian at 10 weeks of age. At that time, the lesions in the oral cavity had healed and the dog was able to eat normally. The dog continued to have waxing and waning lesions on the paw pads, ears, axilla and groin. Blisters would arise intermittently, ulcerate and heal with scarring.\"
Rietmann et al. (2024) \"studied a family of German Shepherd dogs, in which four dogs developed intermittent paw pad lesions and lameness.\" The clinical phenotype in German Shepherd dogs with the p.Asn330_Asp335del variant was restricted to the paw pad epidermis and less severe than the phenotype in Cardigan Welsh Corgi with the p.E476K variant.","defect":true,"group_name":"Epidermolysis bullosa simplex, KRT5-related","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"The NP_001332964.1:p.Asn330_Asp335del allele observed in German Shepherd dogs with split paw pad disease most likely shows incomplete penetrance (Rietmann et al. 2024).","mondo_terms":[],"name":"epidermolysis bullosa simplex, split paw pad disease","omia_group_id":2081,"omia_phene_id":4979,"omia_record_id":"OMIA:002081-9615","publication_ids":[120908,123526,127543,127545,127546],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4979","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2022,"clinical_features":"Holland et al. (1991) \"A polysystemic disorder was observed in three related English Springer Spaniel dogs that demonstrated regurgitation from an early age, slowly progressive temporal muscle atrophy with partial trismus, and less pronounced generalized skeletal muscle atrophy. All dogs exhibited moderate dyserythropoietic anemia, polymyopathy with megaesophagus, and varying degrees of cardiomegaly.\" Østergård Jensen et al. (2022) investigated five affected Swedish ESSPs, as well as tissue samples from two puppies who died within the first day: \"all dogs affected with DAMS appeared slightly stunted, less well muscled, and less active compared to their littermates during the first few weeks of life. ... [The dogs presented later with] exercise intolerance, weakness, and regurgitation from puppyhood. In addition, difficulties opening and closing the mouth, dysphagia, and difficulty in lapping water ... , as well as aspiration pneumonia ... , seizures ... , and chronic diarrhea ... , were noted in the affected juvenile dogs. The affected dogs were 0.7 to 4 years of age at the initial examination and were followed over a period from two months to three years. ... Progressive weakness, muscle atrophy—particularly of the temporal and pelvic muscles—trismus, dysphagia, and regurgitation due to megaesophagus were observed at all ages. Affected dogs had a non-regenerative, microcytic hypochromic anemia with metarubricytosis, target cells, and acanthocytes. Marked erythroid hyperplasia and dyserythropoiesis with non-orderly maturation of erythrocytes and inappropriate microcytic metarubricytosis were present. ... The five affected dogs ... were euthanized at approximately 1, 1.5, 5, 7, and 7.5 years of age, respectively, due to failure to thrive, progressive clinical signs, and poor quality of life. ... [The] two puppies (in a litter of nine) that died shortly after birth were homozygous for the EHBP1L1 variant. ... These neonatal losses indicate that EHBP1L1 deficiency could also be a cause of neonatal death in dogs, but the specific cause of death was not determined.\"\r\n\r\nThomas-Hollands et al. (2021): \"Two Labrador retriever littermates were identified based on incidentally noted marked microcytosis and inappropriate metarubricytosis. Muscle atrophy was noted and associated with distinctive pathological findings in biopsy samples from 1 dog studied. ... the dogs ... did not have apparent cardiac disease.\"","defect":true,"group_name":"Dyserythropoietic anemia and myopathy syndrome","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Østergård Jensen et al. (2022): \"Pedigree analysis confirmed that the affected ESSPs were related. Variant genotyping showed appropriate complete segregation in the family, which was consistent with an autosomal recessive mode of inheritance\".","mondo_terms":[],"name":"","omia_group_id":2564,"omia_phene_id":4980,"omia_record_id":"OMIA:002564-9615","publication_ids":[22529,123527,123528,123536,128923],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:4980","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Gallbladder, agenesis of","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2567,"omia_phene_id":4991,"omia_record_id":"OMIA:002567-9615","publication_ids":[122014,123562,123563,123564,123565,123566],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4991","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Poodle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201048"}],"characterised":true,"characterised_year":2022,"clinical_features":"","defect":false,"group_name":"Coat colour, dark red","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2569,"omia_phene_id":4994,"omia_record_id":"OMIA:002569-9615","publication_ids":[123582],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:4994","source_release":"retrieved-2026-09-12","summary":"Batcher et al. (2022): \"The Poodle breed has a wide range of officially recognized coat colors, including the pheomelanin-based white, cream, apricot and red coat colors, which are not fully explained by the previously identified genetic variants involved in pigment intensity.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Briard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200234"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Night blindness","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2580,"omia_phene_id":5025,"omia_record_id":"OMIA:002580-9615","publication_ids":[31307,38909,54486,59958,124796],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5025","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Beauceron (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200136"}],"characterised":true,"characterised_year":2022,"clinical_features":"Affected puppies exhibit bilateral sensineural deafness from birth, which can be assessed by either behavioral tests or brainstem auditory evoked response (BAER) examinations. No other signs were noted by the owners or attending veterinarians (Abitbol et al. 2022).","defect":true,"group_name":"Deafness, CDH23-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Abitbol et al. (2022): \"Pedigree analysis suggested an autosomal recessive transmission. \"","mondo_terms":[],"name":"","omia_group_id":2584,"omia_phene_id":5040,"omia_record_id":"OMIA:002584-9615","publication_ids":[123770,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5040","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"}],"characterised":true,"characterised_year":2022,"clinical_features":"Christen et al. (2022): \"A male neutered CKCS, born out of reportedly healthy parents, was presented at the age of 1.5 years, with an acute history of suspected complex focal seizures including prolonged lethargy, being less responsive and proprioceptive ataxia. These episodes initially occurred several times a week, lasting from 20 min to multiple hours during which the dog was mainly lethargic.\" The dog was started on anticonvulsant medication, which did not result in complete suppression of the seizures. After diagnosis of MCAD deficiency, \"...the dog was prescribed a low-fat diet and a midnight snack consisting of carbohydrates. Prolonged periods of fasting and formulas that contained medium-chain triglycerides as primary source of fat were also advised to avoid. This management protocol correlated with a complete resolution of clinical signs for the following 6 months. The anticonvulsant medication was therefore reduced to subtherapeutic levels. However, this was reversed as the dose reduction resulted in an increase in seizure frequency.\" ... \"At the time of writing, the dog has been stable for 9 months on 25 mg/kg levetiracetam three times a day, 3 mg/kg phenobarbital twice a day and a low-fat diet, with no further major seizures and a repeated normal neurological examination.\"\r\nChristen et al. (2022) noted that the clinical genotype-phenotype correlation remains unclear. While the ACADM variant causes the biochemical alteration in the blood acylcarnitine profiles, it is not fully clear whether the MCAD deficiency is also the (only) cause of the clinical signs of the studied patient. Christen et al. (2022) wrote: \"MCAD deficiency in dogs seemingly does not clinically manifest as severe as in humans. However, our data show a clear increase in MCFAs in ACADM homozygous mutant dogs. This might point to an additional compensatory mechanism in the dog, which prevents or dampens the manifestation of clinical consequences of elevated MCFAs. In humans, phenotypic diversity ranging from sudden neonatal death to asymptomatic status has previously been reported. Human patients with complete loss of MCAD activity can also remain asymptomatic, suggesting that additional genetic or environmental factors may play a role in the phenotypic diversity. Additional genetic or environmental factors are also likely to modulate the phenotype in MCAD deficient dogs. The improvement of clinical signs upon changing to a low-fat diet in our index case indicates that the diet has a major influence on the clinical phenotype. At this time, we cannot exclude the possibility that additional genetic factors also modified the clinical phenotype. While our data conclusively demonstrate that the ACADM frameshift variant causes MCAD deficiency and the biochemical alterations in the lipid metabolism, it is not yet fully clear whether the MCAD deficiency alone is responsible for the clinical phenotype or whether additional environmental and/or genetic risk factors are required for the expression of clinical signs. The identification of the ACADM frameshift variant enables genetic testing for MCAD deficiency and will facilitate future prospective studies to clarify this important question.\"","defect":true,"group_name":"Acyl-CoA dehydrogenase, medium chain, deficiency of","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0008721","iri":"http://purl.obolibrary.org/obo/MONDO_0008721","label":"medium chain acyl-CoA dehydrogenase deficiency"}],"name":"Also known as medium-chain acyl-CoA dehydrogenase (MCAD) deficiency","omia_group_id":2585,"omia_phene_id":5041,"omia_record_id":"OMIA:002585-9615","publication_ids":[123771,123773,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5041","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Fila Brasileiro (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200520"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cardiomyopathy, arrhythmogenic left ventricular","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2588,"omia_phene_id":5055,"omia_record_id":"OMIA:002588-9615","publication_ids":[123803],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5055","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":true,"characterised_year":2022,"clinical_features":"Bullock et al. (2022): “The disease [in Dalmatians] is characterized by anxiety, pacing and circling, hypersensitivity, cognitive decline, sleep disturbance, loss of coordination, loss of control over urination and defecation, and visual impairment. Neurological signs first became apparent when the dogs were approximately 18 months of age and progressed slowly. Two affected littermates were euthanized at approximately 7 years, 5 months and 8 years, 2 months of age due to the severity of neurological impairment. The mother of the affected dogs and four other relatives exhibited milder, later-onset neurological signs.”
Keller et al. (2024) report a male Weimaraner: \"Clinical signs included fecal incontinence, lethargy, moderate paraparesis, proprioceptive pelvic limb ataxia, falling, cognitive decline, incoordination, decreased interest in food, changes in posture, and episodes of trance-like behavior. Neurologic signs were first observed at approximately 4 years, 10 months of age and progressed slowly. Magnetic resonance imaging showed generalized brain atrophy with areas of white matter pathology. Humane euthanasia was elected at 6 years, 7 months of age due to increasing severity of the neurological signs\"","defect":true,"group_name":"Lysosomal storage disease, CNP-related","inheritance":{"code":"AID","name":"Autosomal incomplete dominant"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2591,"omia_phene_id":5063,"omia_record_id":"OMIA:002591-9615","publication_ids":[123819,127251,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5063","source_release":"retrieved-2026-09-12","summary":"Bullock et al. (2022) report a progressive neurological disorder in purebred Dalmatian dogs with similarities to the neuronal ceroid lipofuscinoses. Keller et al. (2024) report a Weimaraner with the same condition caused by a different variant in the CNP gene.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dalmatian (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200427"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Iris sphincter dysplasia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2599,"omia_phene_id":5072,"omia_record_id":"OMIA:002599-9615","publication_ids":[123851,125219],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5072","source_release":"retrieved-2026-09-12","summary":"Genetics Committee of the American College of Veterinary Opthalmologists 2015): \"Defective development of the iris, or part of the iris, resulting in an immature state. ISD [Iris sphincter dysplasia] is the result of poorly developed iris sphincter muscles. The pupils of dogs with ISD do not properly contract in bright light. Dogs usually are uncomfortable and often squint in sunlight. The disorder exposes the interior of the eye to ultraviolet light that may potentially cause serious vision problems, such as cataracts or retinal damage, as dogs age.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Working Kelpie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201434"}],"characterised":true,"characterised_year":2022,"clinical_features":"Clinical presentation in the two forms of CA in Australian Kelpies mainly differ in regard to onset of clinical signs. The form with later onset of disease at 4-6 month of age is associated with the VMP1 variant (Wade et al., 2022). Clinical signs include ataxia, wide-based stance, head tremors/intention tremor, dysmetria/incoordination, hypermetria/high-stepping gate, decreased limb proprioception (particularly hind limbs), and/or body tremors when excited. The condition is non-painful and does not affect the dog’s normal mentation or alertness. More severe forms can include fitting/grand mal seizures when overheated or excited. The condition may present mildly with only occasional periods of incoordination and no progression to more severe forms. Commonly, it will present with signs that become more obvious or progress as the animal ages (Thomas and Robertson, 1989; Shearman et al., 2008; Shearman et al., 2011; Pan et al., 2017; Wade et al., 2022).\r\nIT thanks DVM student Beatrice Humphries, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Cerebellar abiotrophy, VMP1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2602,"omia_phene_id":5077,"omia_record_id":"OMIA:002602-9615","publication_ids":[110225,110226,111657,117815,123862,125285,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5077","source_release":"retrieved-2026-09-12","summary":"Cerebellar abiotropy has been first described in Australian kelpies by Thomas and Robertson in 1989. Wade et al. (2022) \"identified two distinct clinical and pathological features of CA in Australian working kelpies. These were associated with two separate genomic regions ... An early-onset CA form is observable within a few weeks of birth and in some cases is seen within days of birth. This form affects dogs that are homozygous for a risk marker on CFA20 [see 'OMIA 000175-9615 : Cerebellar abiotrophy in Canis lupus familiaris']. A second region of association, identified on CFA9, is associated with a later-onset form of CA [described in this OMIA entry] that is not usually diagnosed until the dogs are 4–6 months or older.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Vizsla (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201389"}],"characterised":true,"characterised_year":2022,"clinical_features":"Ludwig-Peisker et al. (2022) measured shoulder heights in 29 adult Vizslas that had been genotyped for the PCYT1A:p.Y225H variant. The shoulder height in 7 homozygous mutant dogs was highly variable. On average, homozygous mutant dogs were ~11 cm shorter than dogs with at least one wildtype PCY1A allele. Ludwig-Peisker et al. (2022) found no size differences between homozygous wildtype and heterozygous dogs. Radiographs of affected dogs showed shortened and thickened radius and ulna with procurvatum and varus deformity. The humerus in an affected dog was also markedly shortened with flattened articular surfaces. Similar changes were seen in the hind limbs with marked shortening and deformity of the femur resulting in subluxation of the hip joint and secondary deformity of the acetabula. So far, no clinically overt consequences such as osteoarthritis and lameness due to the skeletal changes have been observed in the affected dogs. However, the oldest affected dog in Ludwig-Peisker et al. (2022) was only 7 years old. Human patients with PCYT1A variants are affected by spondylometaphyseal dysplasia with cone-rod dystrophy and develop an early-onset progressive visual impairment associated with a pigmentary maculopathy and cone-rod dysfunction. The ophthalmologic examination of a single affected Vizsla at seven years of age did not reveal any signs of cone-rod dystrophy (Ludwig-Peisker et al. 2022).","defect":true,"group_name":"Skeletal dysplasia 3, PCYT1A-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Skeletal dysplasia 3; disproportionate dwarfism","omia_group_id":2606,"omia_phene_id":5084,"omia_record_id":"OMIA:002606-9615","publication_ids":[123922],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5084","source_release":"retrieved-2026-09-12","summary":"Skeletal dysplasia 3 (SD3) is a moderately severe form of disproportionate dwarfism in Vizslas. Affected dogs have short legs and their shoulder height is reduced by ~11 cm compared to non-affected dogs. Skeletal dysplasia represents a highly heterogenoues group of diseases with more than 400 distinct entitities described in humans.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2016,"clinical_features":"","defect":false,"group_name":"Modifier of copper toxicosis, ATP7A-related","inheritance":{"code":"X","name":"X-linked"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2608,"omia_phene_id":5091,"omia_record_id":"OMIA:002608-9615","publication_ids":[66965,117198,119174,121367,122498,122845,124708,125653,127424,129662,133520],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5091","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Huntaway (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200683"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2020,"clinical_features":"","defect":false,"group_name":"Modifier of copper toxicosis, RETN-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2609,"omia_phene_id":5092,"omia_record_id":"OMIA:002609-9615","publication_ids":[122498,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5092","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Dystonia, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2069,"omia_phene_id":5094,"omia_record_id":"OMIA:002069-9615","publication_ids":[123965],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5094","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Parkinson disease, PARK7-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2488,"omia_phene_id":5098,"omia_record_id":"OMIA:002488-9615","publication_ids":[123982],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5098","source_release":"retrieved-2026-09-12","summary":"Kim et al. (2022) \"generated two genome-edited dogs. Both genome-edited dogs had insertion-deletion mutations at the target [DJ-1 - also known as PARK7] locus, and DJ-1 expression was either downregulated or completely repressed.\"\r\n\r\nThis study involves genetically modified organisms (GMO).","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Neoplasm, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2587,"omia_phene_id":5107,"omia_record_id":"OMIA:002587-9615","publication_ids":[25651,112933,117167,124011,124012,124325,124329,124371,124551,124718,124849,125021,125098,125132,125212,125350,125365,125368,125440,125491,125497,125519,125563,125571,125598,125737,125765,125815,125833,125981,125984,126009,126076,126128,126156,126250,126317,126365,126366,126406,126450,126529,126611,126646,126665,126749,126763,126838,126975,126978,126980,127045,127078,127098,127320,127334,127355,127366,127378,127380,127388,127611,127632,127771,127777,127930,128000,128045,128144,128185,128206,128207,128357,128404,128431,128432,128440,128456,128480,128496,128500,128556,128694,128812,128875,128911,128988,129018,129029,129084,129121,129208,129460,129473,129812,129818,129838,129859,129879,129900,129933,130040,130041,130062,130129,130178,130199,130299,130506,130569,130733,130776,130849,130871,130987,131004,131037,131600,131601,131602,131603,131604,131605,131606,131607,131608,131609,131610,131611,131612,131613,131614,131615,131616,131617,131618,131619,131620,131621,131622,131623,131624,131625,131626,131627,131628,131629,131630,131631,131632,131633,131634,131635,131997,131998,131999,132000,132025,132143,132156,132181,132239,132287,132374,132419,132535,132606,132611,132700,132827,132883,132919,132954,132970,132981,133043,133054,133060,133075,133106,133166,133251,133414,133474,133547,133562],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5107","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Testicular agenesis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2615,"omia_phene_id":5121,"omia_record_id":"OMIA:002615-9615","publication_ids":[124052,124053,124054,124055,124056,124057],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5121","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2023,"clinical_features":"Gutierrez-Quintana et al. (2023): \"Physical and neurological examinations showed the absence of superficial and deep pain perception in the entire body.\" The authors studied two affected littermates. One had to be euthanized at 2 months of age due to an infected and dislocated tibial and fibular fracture. The other affected littermate had to be euthanized at 10 months of age after having suffered multiple burns from sleeping too close to a heating radiator and other skin lesions.","defect":true,"group_name":"Neuropathy, hereditary sensory and autonomic, SCN9A-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009459","iri":"http://purl.obolibrary.org/obo/MONDO_0009459","label":"channelopathy-associated congenital insensitivity to pain, autosomal recessive"}],"name":"Congenital insensitivity to pain","omia_group_id":2616,"omia_phene_id":5124,"omia_record_id":"OMIA:002616-9615","publication_ids":[124068,124695,124696,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5124","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"}],"characterised":true,"characterised_year":2007,"clinical_features":"","defect":true,"group_name":"Nephropathy, COL4A4 related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0008762","iri":"http://purl.obolibrary.org/obo/MONDO_0008762","label":"autosomal recessive Alport syndrome"}],"name":"Autosomal recessive hereditary nephropathy; Alport syndrome; autosomal recessive nephritis","omia_group_id":2618,"omia_phene_id":5126,"omia_record_id":"OMIA:002618-9615","publication_ids":[81111,82860,108336,114034,114035,120873,121581,125201,129207],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5126","source_release":"retrieved-2026-09-12","summary":"For other types of hereditary nephritis/nephropathy see also: 'OMIA:001112-9615: Nephritis, X-linked'; 'OMIA:001114-9615 Nephritis, autosomal dominant'; OMIA000708-9615: Nephritis' and 'OMIA:000413-9615 Glomerulonephritis'.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"}],"characterised":true,"characterised_year":2023,"clinical_features":"Christen et al. (2023) \"investigated an Australian Shepherd dog with a history of recurrent respiratory infections and nasal discharge.\" Disease onset was noticed at 8 weeks of age. The impaired mucociliary clearance and resulting recurrent airway infections required frequent treatments. The dog was 6 years old at the time of the investigation by Christen et al. (2023).","defect":true,"group_name":"Ciliary dyskinesia, primary, STK36-related","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0030332","iri":"http://purl.obolibrary.org/obo/MONDO_0030332","label":"ciliary dyskinesia, primary, 46"}],"name":"","omia_group_id":2623,"omia_phene_id":5138,"omia_record_id":"OMIA:002623-9615","publication_ids":[124132],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5138","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200638"},{"name":"Irish Wolfhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200706"},{"name":"Scottish Deerhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201195"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Delayed postoperative hemorrhage","inheritance":{"code":"ADIP","name":"Autosomal dominant with incomplete penetrance"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2631,"omia_phene_id":5157,"omia_record_id":"OMIA:002631-9615","publication_ids":[118634,124162,124163,131082,131083,131084,131085,131086,133245],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5157","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Meningioma","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2634,"omia_phene_id":5164,"omia_record_id":"OMIA:002634-9615","publication_ids":[124176,125739,127886,133372],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5164","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Anterior segment dysgenesis","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0019503","iri":"http://purl.obolibrary.org/obo/MONDO_0019503","label":"anterior segment dysgenesis"}],"name":"","omia_group_id":2636,"omia_phene_id":5170,"omia_record_id":"OMIA:002636-9615","publication_ids":[124203,124209],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5170","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Pug (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201089"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Thoracolumbar myelopathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"thoracolumbar meningeal fibrosis; constrictive myelopathy, thoracolumbar spinal arachnoid diverticula","omia_group_id":2641,"omia_phene_id":5185,"omia_record_id":"OMIA:002641-9615","publication_ids":[124261,124269,124270,124271,124272,124273,124274,124275,130637,132338,133350],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5185","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Corneal ulceration","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2644,"omia_phene_id":5192,"omia_record_id":"OMIA:002644-9615","publication_ids":[124315,125316,126748,130512,132208],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5192","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"},{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"}],"characterised":true,"characterised_year":2023,"clinical_features":"Stee et al. (2020) report onset of episodes of myotonic-like generalised muscle stiffness post strenuous exercise (exercise-induced, climbing stairs, jumping) in affected dogs typically before they are 2 years of age. Episodes generally resolve in less than 45 seconds, but van Poucke et al. (2023) report that more severe episodes can be associated with apnoea and cyanosis. Stee et al. (2020) state that \"extreme outside temperatures seemed to considerably worsen episode frequency and severity in most dogs. Complete blood count, serum biochemistry including electrolytes, urinalysis, brain magnetic resonance imaging, cerebrospinal fluid analysis, electromyography, motor nerve conduction velocity, ECG, and echocardiography were unremarkable. Muscle biopsy samples showed moderate but nonspecific muscle atrophy.\" IT thanks DVM student Adeline Choi, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Pseudomyotonia, paradoxical, SLC7A10-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2645,"omia_phene_id":5195,"omia_record_id":"OMIA:002645-9615","publication_ids":[120147,124328],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5195","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"German Spitz (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200585"}],"characterised":true,"characterised_year":2023,"clinical_features":"Bortolini et al. (2023): \"Initial fundus changes were pale papilla and mild vascular attenuation. Oscillatory nystagmus was noted in 14 of 16 clinically affected puppies. Vision was impaired under both scotopic and photopic conditions. Rod- mediated ERGs were unrecordable in all affected dogs tested, reduced cone-mediated responses were present in one animal at 3 months of age and unrecordable in the other affected animals tested. Multiple small retinal bullae were observed in three clinically affected animals ... . OCT showed that despite loss of function, retinal structure was initially well-preserved, although a slight retinal thinning developed in older animals with the ventral retina being more severely affected.\"","defect":true,"group_name":"Retinal atrophy, progressive, GUCY2D-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2646,"omia_phene_id":5196,"omia_record_id":"OMIA:002646-9615","publication_ids":[124332,125219,129719,130777],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5196","source_release":"retrieved-2026-09-12","summary":"Bortolini et al. (2023) \"describe the clinical, preliminary electroretinographic and optical coherence tomography features of a newly identified form of progressive retinal atrophy (PRA) in German Spitzes, and identify the causal gene mutation.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Caudal articular process dysplasia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2647,"omia_phene_id":5197,"omia_record_id":"OMIA:002647-9615","publication_ids":[124269,124333,124334,124335,124336,124337],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5197","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"}],"characterised":true,"characterised_year":2023,"clinical_features":"","defect":true,"group_name":"Ichthyosis, non-epidermolytic, SDR9C7-related","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0033092","iri":"http://purl.obolibrary.org/obo/MONDO_0033092","label":"ichthyosis, congenital, autosomal recessive 13"}],"name":"","omia_group_id":2659,"omia_phene_id":5235,"omia_record_id":"OMIA:002659-9615","publication_ids":[124476,132518],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5235","source_release":"retrieved-2026-09-12","summary":"Kiener et al. (2023) \"investigated a 9-month-old Chihuahua showing excessive scale formation. Clinical and histopathological examinations revealed non-epidermolytic ichthyosis and a genetic defect was suspected. [The authors] therefore sequenced the genome of the affected dog and compared the data with 564 genetically diverse control genomes. Filtering for private variants identified a homozygous missense variant in SDR9C7, c.454C>T or p.(Arg152Trp).\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ureter abnormality","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2662,"omia_phene_id":5254,"omia_record_id":"OMIA:002662-9615","publication_ids":[124550],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5254","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":true,"characterised_year":2023,"clinical_features":"Christen et al. (2023): \"Four Weimaraner dogs (3 males and 1 female) from three different litters were presented for episodes of abnormal gait characterized by increased muscle contractions (dystonia), ataxia, and hypermetria, leading to occasional collapse. Kyphosis and low head carriage were also consistent features... . ... The age of onset was 3 to 7 months. Increased emotional arousal or exercise was reported to trigger the abnormal episodes, which could occur multiple times daily for 5 to 15 minutes. Two dogs displayed intermittent anisocoria associated with the episodes. Resting physical and neurological examinations were unremarkable in all cases, although the reported abnormalities were elicited by short periods of exercise in 3 dogs. Results of diagnostic investigations, including hematology, biochemistry, urine organic acids, lactate and pyruvate levels, enzymatic testing for storage diseases, acetylcholine receptor antibodies, muscle and nerve biopsies, MRI (brain and spinal cord), cerebrospinal fluid analysis, and electrophysiology, were mainly unremarkable\"","defect":true,"group_name":"Dystonia-ataxia syndrome, paroxysmal, TNR-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2663,"omia_phene_id":5259,"omia_record_id":"OMIA:002663-9615","publication_ids":[124587,128068,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5259","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Elliptocytosis, EPB41-related","inheritance":null,"inheritance_text":"The affected dog is a crossbred male and the offspring from a father-\r\ndaughter mating (Smith et al. 1983).","mondo_terms":[{"id":"MONDO:0012731","iri":"http://purl.obolibrary.org/obo/MONDO_0012731","label":"elliptocytosis 1"}],"name":"","omia_group_id":2682,"omia_phene_id":5308,"omia_record_id":"OMIA:002682-9615","publication_ids":[88159,124798,124799],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5308","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Basenji (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200120"}],"characterised":true,"characterised_year":2011,"clinical_features":"Fanconi syndrome is a rare condition in dogs which results in abnormal renal function. More specifically, it causes reduced function of the proximal convoluted tubules (Yearley et al., 2004), resulting in reduced reabsorption of water, nutrients and electrolytes from the tubular fluid and their eventual loss in urine. The clinical consequences of this disease for the animal include polyuria and polydipsia, dehydration, weight loss and muscle weakness (Yearley et al., 2004). Most cases progress to renal failure within a few years of the onset of initial clinical signs Bovée et al. (1978, PMID:684432). IT thanks DVM student Harry Cahill, who provided the basis of this contribution in May 2023.","defect":true,"group_name":"Fanconi syndrome, FAN1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"spontaneous Fanconi syndrome, idiopathic Fanconi syndrome","omia_group_id":2683,"omia_phene_id":5309,"omia_record_id":"OMIA:002683-9615","publication_ids":[3836,7638,17740,28194,51547,107425,110073,110075,110076,110077,110078,110079,112126,115924,124800,128766],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5309","source_release":"retrieved-2026-09-12","summary":"Information listed here was previously listed under OMIA:000366-9615 : Fanconi syndrome in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"},{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"}],"characterised":true,"characterised_year":2006,"clinical_features":"Li et al. (2006): \"most affected [Australian cattle] dogs showed a moderate to severe generalized whole body tremor at 3–4 weeks of age. However, one affected pup in the third litter did not develop obvious neurological signs until 9 weeks of age. The tremor and dysmetric gait were typical of cerebellar involvement. All pups were initially able to ambulate but became progressively more ataxic over the next several weeks. Interestingly, each pup had a slightly different phenotypic expression of its disease, along with variability in the rapidity of disease progression. With time, the pups failed to grow, showed spasticity in all four limbs, and had an inability to ambulate with eventual lateral recumbency. ... Vision and audition remained intact as did nociception. Electrophysiological testing of CNS function showed abnormal brainstem auditory evoked responses with conduction delay, which was also seen in studies of conduction in the spinal cord ... . ... Affected [Shetland sheepdog] pups were smaller than normal littermates. The neurologic defects were variable, ranging from mild to severe and consisted of tremor, ataxia, paresis, rigidity and spasticity, inability to ambulate, dysphagia, and seizures. Clinical signs developed between 7 days and 3 weeks with some pups dying by 7 weeks of age. All laboratory blood testing was normal, although a CT scan of one affected pup showed dilation of the lateral and 4th ventricles and diffuse hypomyelination of the white matter (Wood and Patterson, 2001).\"","defect":true,"group_name":"Leukodystrophy, CYTB-related","inheritance":{"code":"MIT","name":"Mitochondrial"},"inheritance_text":"Li et al. (2006): \"Three litters of Australian cattle dog puppies were born to the same bitch with two different sires, with both male and female pups being affected ... . The sires did not produce any affected pups when mated to other females, .... ... A second family of dogs of a different breed (Shetland sheepdogs) was also studied (Wood and Patterson, 2001). In this family, three litters with affected pups were born to the same bitch and two different sires. A total of nineteen pups were born, twelve being affected. Six pups from the first litter, two from the second litter, and four from the third litter developed a progressive neurologic disease. Both sexes were affected.\"\r\nPedigree information suggested a maternal inheritance which was later confirmed as mitochondrial inheritance. As the mutation may only occur in some of the copies of mtDNA (heteroplasmy) not all puppies were affected and disease presented with variable levels of severity.","mondo_terms":[],"name":"canine spongiform leukoencephalomyelopathy; leucodystrophy; Shetland Sheepdog leukodystrophy","omia_group_id":2684,"omia_phene_id":5312,"omia_record_id":"OMIA:002684-9615","publication_ids":[98205,107730,124009,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5312","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cleft lip","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":444,"omia_phene_id":5313,"omia_record_id":"OMIA:000444-9615","publication_ids":[120073,123356,127232],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5313","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200095"}],"characterised":true,"characterised_year":2023,"clinical_features":"","defect":false,"group_name":"Hyposegmentation of granulocytes","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2700,"omia_phene_id":5345,"omia_record_id":"OMIA:002700-9615","publication_ids":[93076,120702,125302],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5345","source_release":"retrieved-2026-09-12","summary":"The phenotype has initially been termed Pelger-Huët anomaly due to the phenotypic similarity with human Pelger-Huët anomaly. However, the human Pelger-Huët anomaly is caused by variants in the LBR gene, while this entry refers to an LMBR1L-related phenotype characterized by hyposegmented granulocytes.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Infertility","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":562,"omia_phene_id":5362,"omia_record_id":"OMIA:000562-9615","publication_ids":[125011],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5362","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Miniature Australian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200881"}],"characterised":true,"characterised_year":2023,"clinical_features":"Heinonen et al. (2023) report Miniature Australian Shepherd dogs with \"episodes of muscle stiffness that could occasionally be triggered by acoustic stimuli.\"","defect":true,"group_name":"Hyperekplexia, GLRA1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0007868","iri":"http://purl.obolibrary.org/obo/MONDO_0007868","label":"hyperekplexia 1"}],"name":"","omia_group_id":689,"omia_phene_id":5367,"omia_record_id":"OMIA:000689-9615","publication_ids":[125026,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5367","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Macroglobulinaemia, Waldenström","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2706,"omia_phene_id":5370,"omia_record_id":"OMIA:002706-9615","publication_ids":[125047],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5370","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Dermal arteritis, nasal","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Dermal arteritis of the nasal philtrum; DANP; rostrolateral nasal alar arteriopathy","omia_group_id":2707,"omia_phene_id":5371,"omia_record_id":"OMIA:002707-9615","publication_ids":[125048,125049,125050],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5371","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Manchester Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200862"}],"characterised":true,"characterised_year":2023,"clinical_features":"Furrow et al. (2023): \"The Manchester Terrier provides a naturally occurring animal model of SCDY/DCM with disease manifesting as sudden death before 2 years of age, typically by 6 months [Legge et al. 2013].\"","defect":true,"group_name":"Cardiomyopathy, dilated, ABCC9-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0012062","iri":"http://purl.obolibrary.org/obo/MONDO_0012062","label":"dilated cardiomyopathy 1O"}],"name":"Sudden cardiac death in the young (SCDY) and dilated cardiomyopathy (DCM)","omia_group_id":2710,"omia_phene_id":5376,"omia_record_id":"OMIA:002710-9615","publication_ids":[125068,125069],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5376","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Body weight","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2077,"omia_phene_id":5378,"omia_record_id":"OMIA:002077-9615","publication_ids":[125073],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5378","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Adrenal hyperplasia, congenital, CYP11B1-related","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0008729","iri":"http://purl.obolibrary.org/obo/MONDO_0008729","label":"congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency"}],"name":"","omia_group_id":1661,"omia_phene_id":5386,"omia_record_id":"OMIA:001661-9615","publication_ids":[],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5386","source_release":"retrieved-2026-09-12","summary":"inactive ","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cone degeneration","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2715,"omia_phene_id":5406,"omia_record_id":"OMIA:002715-9615","publication_ids":[82893],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5406","source_release":"retrieved-2026-09-12","summary":"Previously listed under OMIA:000881-9615 : Rod-cone dysplasia [07/06/2023]","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"}],"characterised":true,"characterised_year":2022,"clinical_features":"","defect":true,"group_name":"Megaoesophagus, MCHR2-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"congenital idiopathic megaesophagus, CIM","omia_group_id":2716,"omia_phene_id":5412,"omia_record_id":"OMIA:002716-9615","publication_ids":[111881,123131,125182,130288],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5412","source_release":"retrieved-2026-09-12","summary":"See also OMIA:000631-9615 : Megaoesophagus, generic in Canis lupus familiaris (dog) ","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Sacral agenesis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2420,"omia_phene_id":5417,"omia_record_id":"OMIA:002420-9615","publication_ids":[125224],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5417","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Papillon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200985"},{"name":"Phalène (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201015"}],"characterised":true,"characterised_year":2013,"clinical_features":"As reported by Ahonen et al. (2013) \"Papillon breed is affected with an autosomal recessive late onset PRA with a mean onset at 5.6 years of age [Hakanson and Narfstrom, 1995]. ... affected dogs have a primary loss of the rod photoreceptor cells, followed by loss of cone cell function [Narfstrom and Ekesten, 1998], [Narfstrom and Wrigstad,1999]. The first clinical signs are seen as difficulties in the dim light. The disease progress very slowly and the affected dogs seem to be visually normal throughout their life, as the cone function is fairly well preserved [Narfstrom and Ekesten, 1998], [Narfstrom and Wrigstad,1999]. The ophthalmoscopical signs include increased tapetal reflectivity and retinal vascular attenuation followed by pigment migration in the non-tapetal fundus [Hakanson and Narfstrom, 1995].\"","defect":true,"group_name":"Retinal atrophy, progressive, CNGB1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Winkler et al. (2013) reported pedigree analysis results consistent with autosomal recessive inheritance in the Papillon breed.","mondo_terms":[],"name":"","omia_group_id":2723,"omia_phene_id":5429,"omia_record_id":"OMIA:002723-9615","publication_ids":[114805,114806,114807,114901,119333,124662,129719,129732,130075],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5429","source_release":"retrieved-2026-09-12","summary":"Information presented here was initially listed under 'OMIA:000830-9615 : Retinal atrophy, progressive'. The CNGB1-related entry was created to distinguish this retinal atrophy from other variants for which the underlying genetic cause is unknown [16/06/2023]","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":true,"characterised_year":2023,"clinical_features":"","defect":true,"group_name":"Polyneuropathy, hypomyelinating, MTMR2-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0011066","iri":"http://purl.obolibrary.org/obo/MONDO_0011066","label":"Charcot-Marie-Tooth disease type 4B1"}],"name":"congenital hypomyelinating polyneuropathy; HPN","omia_group_id":2727,"omia_phene_id":5455,"omia_record_id":"OMIA:002727-9615","publication_ids":[125483,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5455","source_release":"retrieved-2026-09-12","summary":"Cook et al. (2023): “Congenital hypomyelinating polyneuropathy (HPN) restricted to the peripheral nervous system was reported in 1989 in two Golden Retriever (GR) littermates [see OMIA:001292-9615 : Polyneuropathy, generic in Canis lupus familiaris]. Recently, four additional cases of congenital HPN in young, unrelated GRs were diagnosed via neurological examination, electrodiagnostic evaluation, and peripheral nerve pathology.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Saarloos Wolfhond (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201158"}],"characterised":true,"characterised_year":2024,"clinical_features":"\"Clinical signs involved early adult onset retinal degeneration and adult-onset neurological deficits including gait abnormalities, hind limb weakness, tremors, ataxia, cognitive decline and behavioral changes such as aggression towards the owner.\" (Christen et al., 2024)\r\nThe first noticable clinical signs in the affected dogs involved a progressive loss of vision. Affected dogs developed prcd-PRA that let to blindness in older dogs. In six affected dogs of the study, the PRA diagnosis was made between 20 and 46 months of age (av 36 m, SD: 17 m) (Christen et al., 2024).\r\nSubsequent to the visual decline \"The eleven affected dogs additionally exhibited a range of neurological and neuromuscular signs, including gait abnormalities, hind limb weakness, tremors, ataxia, cognitive decline and behavioral changes such as aggression towards the owner. ... Additionally, epileptic seizures were reported in cases 5, 6, 8, and 11. MRI was reportedly done at four years of age in cases 7, 9 and 10. The MRIs of cases 7 and 10 showed brain atrophy compatible with neurodegenerative disease. Notably, MRI findings in case 9 were normal even though it was performed after the onset of neurological signs.\" (Christen et al. 2024)","defect":true,"group_name":"PCYT2 deficiency","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Progressive retinal, central, and peripheral neurodegeneration","omia_group_id":2728,"omia_phene_id":5457,"omia_record_id":"OMIA:002728-9615","publication_ids":[126837],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5457","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Papillon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200985"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Thoracoabdominal syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2729,"omia_phene_id":5459,"omia_record_id":"OMIA:002729-9615","publication_ids":[125380],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5459","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200258"},{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pulmonary valve dysplasia","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2730,"omia_phene_id":5460,"omia_record_id":"OMIA:002730-9615","publication_ids":[125382,125383,125388],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5460","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Chromosomal abnormality, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2657,"omia_phene_id":5463,"omia_record_id":"OMIA:002657-9615","publication_ids":[6830,10806,13944,25374,125399,130676,131236,131517,131518,131519,131520,131521,131522,131928,131929,131930],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5463","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cancer, TP53-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1990,"omia_phene_id":5474,"omia_record_id":"OMIA:001990-9615","publication_ids":[125440],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5474","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":true,"characterised_year":2023,"clinical_features":"","defect":true,"group_name":"Polyneuropathy, hypomyelinating, MPZ-related","inheritance":null,"inheritance_text":"Probably autosomal dominant","mondo_terms":[],"name":"congenital hypomyelinating polyneuropathy; HPN","omia_group_id":2739,"omia_phene_id":5484,"omia_record_id":"OMIA:002739-9615","publication_ids":[125483,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5484","source_release":"retrieved-2026-09-12","summary":"Cook et al. (2023): “Congenital hypomyelinating polyneuropathy (HPN) restricted to the peripheral nervous system was reported in 1989 in two Golden Retriever (GR) littermates [see OMIA:001292-9615 : Polyneuropathy, generic in Canis lupus familiaris]. Recently, four additional cases of congenital HPN in young, unrelated GRs were diagnosed via neurological examination, electrodiagnostic evaluation, and peripheral nerve pathology.”","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":true,"characterised_year":2023,"clinical_features":"","defect":true,"group_name":"Polyneuropathy, hypomyelinating, SH3TC2-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"congenital hypomyelinating polyneuropathy; HPN","omia_group_id":2740,"omia_phene_id":5485,"omia_record_id":"OMIA:002740-9615","publication_ids":[125483,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5485","source_release":"retrieved-2026-09-12","summary":"Cook et al. (2023): “Congenital hypomyelinating polyneuropathy (HPN) restricted to the peripheral nervous system was reported in 1989 in two Golden Retriever (GR) littermates [see OMIA:001292-9615 : Polyneuropathy, generic in Canis lupus familiaris]. Recently, four additional cases of congenital HPN in young, unrelated GRs were diagnosed via neurological examination, electrodiagnostic evaluation, and peripheral nerve pathology.”","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pelvic organ prolapse, predisposition to","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Vaginal hyperplasia","omia_group_id":2581,"omia_phene_id":5505,"omia_record_id":"OMIA:002581-9615","publication_ids":[125583],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5505","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"}],"characterised":true,"characterised_year":2015,"clinical_features":"Ware et al. (2015): \"A 5-year-old, healthy English Springer Spaniel died suddenly 4 months after delivering a litter of 7 puppies. Within 4 months of the dam's death, 3 offspring also died suddenly. ... Three of 4 littermates examined ... had prolonged QT intervals with unique T-wave morphology.\"","defect":true,"group_name":"Long QT syndrome, KCNQ1-related","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"The condition is reported in a single family and the authors suspected that the identified KCNQ1 variant arose de novo in the dam of the affected litter. Animals which were heterozygous for the variant presented with clinical signs (Ware et al. 2015).","mondo_terms":[{"id":"MONDO:0100316","iri":"http://purl.obolibrary.org/obo/MONDO_0100316","label":"long QT syndrome 1"}],"name":"","omia_group_id":2332,"omia_phene_id":5516,"omia_record_id":"OMIA:002332-9615","publication_ids":[125623,125626],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5516","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":true,"characterised_year":2016,"clinical_features":"The derived allele at MC5R (237-Thr) is associated with reduced hair shedding and shorter hair length. However, epistatic interactions with the genotypes at MC5R, RSPO2 and FGF5 exist (Hayward et al. 2016).","defect":false,"group_name":"Reduced hair shedding, MC5R-related","inheritance":null,"inheritance_text":"The exact mode of inheritance for hair shedding has not been published. Hayward et al. (2016) documented epistatic interactions of MC5R with FGF5 and RSPO2, which also affect hair morphology in dogs.","mondo_terms":[],"name":"","omia_group_id":2750,"omia_phene_id":5526,"omia_record_id":"OMIA:002750-9615","publication_ids":[116374,130739],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5526","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"External auditory canal atresia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2751,"omia_phene_id":5531,"omia_record_id":"OMIA:002751-9615","publication_ids":[125648],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5531","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Phelan-McDermid syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"SHANK3-associated autism spectrum disorder","omia_group_id":2402,"omia_phene_id":5532,"omia_record_id":"OMIA:002402-9615","publication_ids":[125649,126086,126089,126874,128332,128368,129453,129457,129564,129588],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5532","source_release":"retrieved-2026-09-12","summary":"This phene includes references to studies involving gene edited or genetically modified organisms (GMO).","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Lymphoma, B-cell, predisposition to","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2586,"omia_phene_id":5546,"omia_record_id":"OMIA:002586-9615","publication_ids":[125712,125856,125940,128228,128387,128393,129230,129787,130474,130583,130656,133109,133249],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5546","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Belgian Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200144"}],"characterised":true,"characterised_year":2023,"clinical_features":"Christen et al. (2023) \"investigated a [Belgian shepherd] litter in which two puppies developed cerebellar ataxia. The clinical signs stabilized at around six weeks of age, but remained visible into adulthood. ... Genotyping additional ataxic Belgian shepherd dogs revealed three additional homozygous mutant dogs from a single litter, which had been euthanized at five weeks of age due to their severe clinical phenotype.\"","defect":true,"group_name":"Ataxia, cerebellar, RALGAPA1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2757,"omia_phene_id":5551,"omia_record_id":"OMIA:002757-9615","publication_ids":[125726,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5551","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Kelpie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200090"},{"name":"Irish Setter (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200702"},{"name":"Lhasa Apso (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200824"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Pekingese (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200994"},{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"},{"name":"Wire Fox Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201424"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Lissencephaly, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2771,"omia_phene_id":5594,"omia_record_id":"OMIA:002771-9615","publication_ids":[268,9462,115188,115189,116288,125883,125884,127688],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5594","source_release":"retrieved-2026-09-12","summary":"See also OMIA:001867-9615 : Lissencephaly and cerebellar hypoplasia, RELN-related in Canis lupus familiaris","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Cyclic guanosine monophosphate (cGMP) concentration, reduced","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2774,"omia_phene_id":5604,"omia_record_id":"OMIA:002774-9615","publication_ids":[125914,125915],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5604","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"}],"characterised":true,"characterised_year":2009,"clinical_features":"Homozygous affected males have normal male external genitalia, except that approximately 50% are unilaterally or bilaterally cryptorchid. PMDS males having at least one descended testicle can be fertile. Carrier males and carrier females are reproductively normal. PMDS dogs may present at any age as a dog with normal male external genitalia or a cryptorchid dog. If cryptorchid, they may present as an adult with signs of testicular tumor. As pyometra can be a sequelae, affected dogs may present with typical signs,such as polydipsia, polyuria and inappetance.","defect":true,"group_name":"Persistent Mullerian duct syndrome, AMHR2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"The mode of inheritance is sex-limited autosomal recessive, and both affected and carrier dogs are karyotypically normal [Wu et al., 2009]. Affected males are homozygous and will pass the mutation to all of their offspring. Carrier (heterozygous) males will pass the mutation to half their offspring, on average. Females are not affected, but can be either homozygous or heterozygous for the mutation. Homozygous carrier females will pass the mutation to all of their offspring and heterozygous carrier females will pass the mutation to half their offspring, on average.","mondo_terms":[],"name":"Persistent Müllerian Duct Syndrome","omia_group_id":2775,"omia_phene_id":5607,"omia_record_id":"OMIA:002775-9615","publication_ids":[629,108444,109206,109393,109483,111593,111594,111595,119913,119914,122155,125653],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5607","source_release":"retrieved-2026-09-12","summary":"Information relating to persistent Mullerian duct syndrome due to variants in the AMRH2 gene were previously listed under OMIA:000791-9615 : Persistent Mullerian duct syndrome in Canis lupus familiaris. PMDS is a type of XY disorder of sexual development (XY DSD), characterized by the presence of Müllerian duct derivatives in otherwise normal males. The mode of inheritance for the PMDS trait in miniature schnauzers is sex-limited autosomal recessive. Affected dogs are 78,XY and have bilateral testes. Both affected and carrier males appear externally normal, although approximately 50% of affected dogs are unilaterally or bilaterally cryptorchid. Common sequelae are Sertoli cell tumors in cryptorchid PMDS males and pyometra. Treatment in affected dogs is gonadectomy and hysterectomy. Testing for the mutation prior to breeding is recommended, because affected dogs with scrotal testes are fertile and carriers have no clinical signs. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT, updated by Imke Tammen [28/09/2023]","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dachshund (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200406"}],"characterised":true,"characterised_year":2019,"clinical_features":"","defect":true,"group_name":"XY difference of sexual development, HSD17B3-related","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009916","iri":"http://purl.obolibrary.org/obo/MONDO_0009916","label":"46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"}],"name":"","omia_group_id":2777,"omia_phene_id":5610,"omia_record_id":"OMIA:002777-9615","publication_ids":[119912],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5610","source_release":"retrieved-2026-09-12","summary":"Information about this condition was previously included under OMIA:001601-9615 : XY differences of sexual development, generic in Canis lupus familiaris [28/09/2023]","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Sex chromosome difference of sexual development, generic","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0017975","iri":"http://purl.obolibrary.org/obo/MONDO_0017975","label":"sex chromosome disorder of sex development"}],"name":"","omia_group_id":2776,"omia_phene_id":5630,"omia_record_id":"OMIA:002776-9615","publication_ids":[108361,125934,128563],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5630","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Great Pyrenees (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200629"}],"characterised":true,"characterised_year":2023,"clinical_features":"Ekenstedt et al. (2023) report disease in Great Pyrenees dogs characterised by \"central nervous system degeneration leading to progressive cerebellar ataxia and spasticity, combined with peripheral neuropathy. Onset of clinical signs occurred in puppies as young as 4 months of age, with slow progression over several years.\"","defect":true,"group_name":"Ataxia, spastic, SACS-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010041","iri":"http://purl.obolibrary.org/obo/MONDO_0010041","label":"Charlevoix-Saguenay spastic ataxia"}],"name":"","omia_group_id":2780,"omia_phene_id":5640,"omia_record_id":"OMIA:002780-9615","publication_ids":[125964],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5640","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"}],"characterised":true,"characterised_year":2023,"clinical_features":"Bullock et al. (2023): A \"7-month-old Doberman Pinscher dog presented with progressive neurological signs and brain atrophy suggestive of a hereditary neurodegenerative disorder. The dog was euthanized due to the progression of disease signs.\"","defect":true,"group_name":"Mannosidosis, alpha","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0009561","iri":"http://purl.obolibrary.org/obo/MONDO_0009561","label":"alpha-mannosidosis"}],"name":"","omia_group_id":625,"omia_phene_id":5641,"omia_record_id":"OMIA:000625-9615","publication_ids":[125965,128324],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5641","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Colonic agenesis, congenital partial","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2781,"omia_phene_id":5644,"omia_record_id":"OMIA:002781-9615","publication_ids":[125973,125975],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5644","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Adaptation, environment, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2637,"omia_phene_id":5647,"omia_record_id":"OMIA:002637-9615","publication_ids":[125979,126001],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5647","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cholelithiasis, predisposition to","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2782,"omia_phene_id":5650,"omia_record_id":"OMIA:002782-9615","publication_ids":[125986,125987,125988,125989,125990],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5650","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Uveodermatological syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"Vogt-Koyanagi-Harada (VKH)-like syndrome","omia_group_id":2787,"omia_phene_id":5674,"omia_record_id":"OMIA:002787-9615","publication_ids":[122150,126092,126093,126094,126095,126096,126097,126098,129209,129912,130494],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5674","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Vena cava defect, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2791,"omia_phene_id":5687,"omia_record_id":"OMIA:002791-9615","publication_ids":[126143,128420],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5687","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Dentinogenesis imperfecta","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2792,"omia_phene_id":5688,"omia_record_id":"OMIA:002792-9615","publication_ids":[126146,126147,128877],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5688","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Bernese Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200161"},{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"},{"name":"German Shepherd Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200577"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Great Dane (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200623"},{"name":"Irish Wolfhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200706"},{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"},{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"},{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"},{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"},{"name":"Staffordshire Bull Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201296"},{"name":"Yorkshire Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201448"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Myelopathy, fibrocartilaginous embolic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"fibrocartilaginous embolism, FCE","omia_group_id":1120,"omia_phene_id":5694,"omia_record_id":"OMIA:001120-9615","publication_ids":[126200,126201,126202,126203,126204,126205,126206,126207,126208,126209,126210,126211],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5694","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Nova Scotia Duck Tolling Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200964"}],"characterised":true,"characterised_year":2023,"clinical_features":"Bannasch et al. (2023): \"Two 10-month-old sibling Nova Scotia Duck Tolling Retrievers (NSDTR) died acutely with evidence of dilated cardiomyopathy with myocardial fibrosis.\" Abnormal Rhythm and dilated cardiomyopathy preceded sudden death in two cases. Three other cases presented with sudden death. When available necropsy of four cases showed severe myocardial fibrosis in dogs. All dogs homozygous for the mutant allele exhibited sudden death by 14 months of age. One related heterozygote had sudden death at 5 years of age.","defect":true,"group_name":"Cardiomyopathy, dilated, LMNA-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"Bannasch et al. (2023): \"Pedigree analysis in the NSDTR [Nova Scotia Duck Tolling retriever] and functional evaluation of heterozygotes is consistent with a predominantly recessive mode of inheritance and possibly low penetrance in heterozygotes.\"","mondo_terms":[{"id":"MONDO:0007269","iri":"http://purl.obolibrary.org/obo/MONDO_0007269","label":"dilated cardiomyopathy 1A"}],"name":"","omia_group_id":2796,"omia_phene_id":5703,"omia_record_id":"OMIA:002796-9615","publication_ids":[125624,126243],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5703","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Polyendocrine syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2797,"omia_phene_id":5718,"omia_record_id":"OMIA:002797-9615","publication_ids":[126308],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5718","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Dog allergen","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2799,"omia_phene_id":5725,"omia_record_id":"OMIA:002799-9615","publication_ids":[126333,128170,128176,128562,130451,133417],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5725","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Complex vertebral malformation","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1340,"omia_phene_id":5760,"omia_record_id":"OMIA:001340-9615","publication_ids":[126498,127072,127232],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5760","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Anencephaly/Exencephaly","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":44,"omia_phene_id":5770,"omia_record_id":"OMIA:000044-9615","publication_ids":[126570,126571,126572,126573,126574,126575,127232,130134],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5770","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Amelia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":587,"omia_phene_id":5776,"omia_record_id":"OMIA:000587-9615","publication_ids":[126573,127232,129479],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5776","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Trichiasis, caruncular","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"aberrant dermis","omia_group_id":2809,"omia_phene_id":5780,"omia_record_id":"OMIA:002809-9615","publication_ids":[126600,126601,126602],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5780","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Old English Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200969"}],"characterised":true,"characterised_year":2023,"clinical_features":"Stanbury et al. (2023) \"Affected dogs typically present with multiple and various ocular abnormalities.\" These may include cataract, bilateral vitreal degeneration, macrophthalmos, spherophakia, retinal detachment, uveitis and secondary glaucoma.","defect":true,"group_name":"Multiple ocular defects, COL11A1-related","inheritance":{"code":"D","name":"Autosomal dominant"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0011493","iri":"http://purl.obolibrary.org/obo/MONDO_0011493","label":"Stickler syndrome type 2"}],"name":"Multiocular defect","omia_group_id":2811,"omia_phene_id":5788,"omia_record_id":"OMIA:002811-9615","publication_ids":[126675],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5788","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Woolly hair","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1256,"omia_phene_id":5793,"omia_record_id":"OMIA:001256-9615","publication_ids":[126694],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5793","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":2014,"clinical_features":"","defect":true,"group_name":"Alzheimer disease, APP-related","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0007088","iri":"http://purl.obolibrary.org/obo/MONDO_0007088","label":"Alzheimer disease type 1"}],"name":"","omia_group_id":2538,"omia_phene_id":5796,"omia_record_id":"OMIA:002538-9615","publication_ids":[126721,126722],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5796","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Eurasier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200512"}],"characterised":true,"characterised_year":2023,"clinical_features":"Rawson et al. (2024): \"Three Eurasier dogs (littermates) presented with early onset movement disorders (9 weeks in 2, 4-6 months in 1). Progressive gait abnormalities were detected in 2 of the dogs, persistent divergent strabismus in 1, whereas consciousness and behavior remained intact in all dogs. One dog was euthanized at 25 months. ... Magnetic resonance imaging of the brain in Dogs 1 and 2 identified symmetrical, bilateral T2 and fluid attenuated inversion recovery hyperintense, T1 hypo to isointense, nonenhancing lesions of the caudate nucleus, lateral and medial geniculate nuclei, thalamus, hippocampus, rostral colliculus and mild generalized brain atrophy.\"","defect":true,"group_name":"Polioencephalopathy, MECR-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2814,"omia_phene_id":5797,"omia_record_id":"OMIA:002814-9615","publication_ids":[126723],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5797","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Mastocytosis, cutaneous","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2816,"omia_phene_id":5808,"omia_record_id":"OMIA:002816-9615","publication_ids":[126768],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5808","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Uterine aplasia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2822,"omia_phene_id":5828,"omia_record_id":"OMIA:002822-9615","publication_ids":[122354],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5828","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Dental abnormalities","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2583,"omia_phene_id":5841,"omia_record_id":"OMIA:002583-9615","publication_ids":[126888,129691,129692],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5841","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Papillomatosis, cutaneous","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1147,"omia_phene_id":5874,"omia_record_id":"OMIA:001147-9615","publication_ids":[127070,129266],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5874","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Cavalier King Charles Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200309"}],"characterised":true,"characterised_year":2024,"clinical_features":"","defect":true,"group_name":"Immunodeficiency, CARMIL2-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2835,"omia_phene_id":5896,"omia_record_id":"OMIA:002835-9615","publication_ids":[127214],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5896","source_release":"retrieved-2026-09-12","summary":"Coffey et al. (2024) \"report the discovery of a CARMIL2 nonsense variant in three Cavalier King Charles Spaniel dogs with either PCP [Pneumocystis pneumonia] (n = 2) or refractory Bordetella pneumonia (n = 1). ... Deleterious CARMIL2 variants have recently been reported in human patients with PCP and other recurrent pneumonias. In addition to opportunistic respiratory infection, the affected dogs also exhibited other clinical manifestations of CARMIL2 deficiencies that have been reported in humans, including early-onset gastrointestinal disease, allergic skin disease, mucocutaneous lesions, abscesses, autoimmune disorders, and gastrointestinal parasitism.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Omphalocele","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":741,"omia_phene_id":5901,"omia_record_id":"OMIA:000741-9615","publication_ids":[127232],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5901","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Atresia ani","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":83,"omia_phene_id":5902,"omia_record_id":"OMIA:000083-9615","publication_ids":[127232],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5902","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Cirneco dell'Etna (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200365"}],"characterised":true,"characterised_year":2024,"clinical_features":"Murgiano et al. (2024) reported two Cirneco dell′ Etna dogs from the same litter with retinal degeneration, along with tremors, gait alteration and signs described as either atypical seizures or paroxysmal dyskinesias.
\"Analysis of the brain MRI ... showed a discrete area of bilaterally symmetric, peri-ventricular T2 hyperintensity ... . This signal abnormality extended towards the internal capsule, where it was accompanied by increased T2 signal within the caudate nuclei bilaterally (right greater than left). There was also moderate ventriculomegaly involving the lateral ventricles. This appeared to result from diffuse thinning of cerebral white matter, most notable in the ventral temporal lobe. The results of the CSF analysis were within normal ranges... . The MRI of the cervical spine did not reveal any abnormalities.\"","defect":true,"group_name":"Pontocerebellar hypoplasia, AMPD2-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0014351","iri":"http://purl.obolibrary.org/obo/MONDO_0014351","label":"pontocerebellar hypoplasia type 9"}],"name":"Cirneco oculo-neurological syndrome","omia_group_id":2838,"omia_phene_id":5906,"omia_record_id":"OMIA:002838-9615","publication_ids":[127246],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5906","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"French Bulldog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201455"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Muscle hypertrophy, dysphagia, and gait abnormalities","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2839,"omia_phene_id":5907,"omia_record_id":"OMIA:002839-9615","publication_ids":[127249],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5907","source_release":"retrieved-2026-09-12","summary":"Shelton et al. (2024) describe 4 French Bulldogs with muscle hypertrophy, swallowing disorders, and gait abnormalities. Two of the dogs had a likely causal variant in the CLCN1 gene (see OMIA:000698-9615 : Myotonia in Canis lupus familiaris for details). Whole genome sequencing in one dog identified a variant in \"PDE4C [c15dup; XP_038422764.1:p.A6Rfs*46], which is the major phosphodiesterase expressed in skeletal muscle and may play a role in decreasing muscle atrophy. In one case for which whole genome sequencing was not performed, genotyping for the identified variants was not confirmed.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2024,"clinical_features":"Christen et al. (2024): \"Two Jack-Russell Terrier × Chihuahua mixed-breed littermates with Leigh syndrome were investigated. The dogs presented with progressive ataxia, dystonia, and increased lactate levels.\" Disease onset was at ~4 months of age and the two dogs were euthanized at ~6 months of age due to the severity of their clinical phenotype.","defect":true,"group_name":"Leigh syndrome, NDUFS7-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2840,"omia_phene_id":5908,"omia_record_id":"OMIA:002840-9615","publication_ids":[127250],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5908","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Vertebral anomalies","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1046,"omia_phene_id":5916,"omia_record_id":"OMIA:001046-9615","publication_ids":[127287,127577,127715,128475],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5916","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Kelpie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200090"},{"name":"Bernese Mountain Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200161"},{"name":"Border Collie (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200193"},{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"},{"name":"Cavapoo (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200316"},{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"},{"name":"Italian Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200713"},{"name":"Nova Scotia Duck Tolling Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200964"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"},{"name":"Wirehaired Pointing Griffon (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201427"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Steroid-responsive meningitis-arteritis, predisposition to","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2842,"omia_phene_id":5917,"omia_record_id":"OMIA:002842-9615","publication_ids":[109174,109193,116817,127299,127304,127305,127306,127307,127308,127309,127310,127311,127730,128045,128343,128344,128504,128620,132597,133067],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5917","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Tuberculosis, susceptibility/resistance to","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1856,"omia_phene_id":5921,"omia_record_id":"OMIA:001856-9615","publication_ids":[127332],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5921","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Vaccine-induced immune response, variation in","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2844,"omia_phene_id":5922,"omia_record_id":"OMIA:002844-9615","publication_ids":[127350],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5922","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Portuguese Water Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201077"}],"characterised":true,"characterised_year":2024,"clinical_features":"Murgiano et al. (2024) report a syndromic disorder characterized by microphthalmia, tooth enamel malformations, stunted growth, anemia, and thrombocytopenia in the Portuguese water dog.","defect":true,"group_name":"Microphthalmia with haematopoietic defects, DNAJC21-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Canine congenital microphthalmos with hematopoietic defects","omia_group_id":2847,"omia_phene_id":5932,"omia_record_id":"OMIA:002847-9615","publication_ids":[127425],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5932","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Nasolacrimal duct obstruction","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2852,"omia_phene_id":5947,"omia_record_id":"OMIA:002852-9615","publication_ids":[127464],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5947","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Miniature Schnauzer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200896"}],"characterised":true,"characterised_year":2024,"clinical_features":"","defect":true,"group_name":"Immunodeficiency, CARD9-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Mizukami et al. (2024): \"Adult Miniature Schnauzers developing progressive systemic MAC infections were related to a common founder, and pedigree analysis was consistent with an autosomal recessive trait.\"","mondo_terms":[],"name":"Increased susceptibility to Mycobacterium avium complex infection","omia_group_id":2854,"omia_phene_id":5953,"omia_record_id":"OMIA:002854-9615","publication_ids":[127485],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5953","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Afghan Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200004"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Myelopathy, hereditary","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"hereditary necrotizing myelopathy; myelomalacia","omia_group_id":2857,"omia_phene_id":5971,"omia_record_id":"OMIA:002857-9615","publication_ids":[7599,8501,120052,127593],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5971","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Glucose-6-phosphate dehydrogenase deficiency","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":416,"omia_phene_id":5972,"omia_record_id":"OMIA:000416-9615","publication_ids":[127595],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:5972","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Methaemoglobinaemia, CYB5A-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2858,"omia_phene_id":5973,"omia_record_id":"OMIA:002858-9615","publication_ids":[127598],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:5973","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Osteochondromatosis, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2555,"omia_phene_id":6004,"omia_record_id":"OMIA:002555-9615","publication_ids":[127723],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6004","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Labrador Retriever (obsolete)","vbo_id":null}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Wolff-Parkinson-White syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0008685","iri":"http://purl.obolibrary.org/obo/MONDO_0008685","label":"Wolff-Parkinson-White syndrome"}],"name":"","omia_group_id":1194,"omia_phene_id":6024,"omia_record_id":"OMIA:001194-9615","publication_ids":[127905],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6024","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pheochromocytoma","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1268,"omia_phene_id":6038,"omia_record_id":"OMIA:001268-9615","publication_ids":[127985],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6038","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Poodle, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201051"}],"characterised":true,"characterised_year":2024,"clinical_features":"Kiener et al. (2024) \"investigated a miniature poodle with early onset generalized scaling, dry and irregularly thickened skin, paw pad hyperkeratosis and abnormalities in hair and teeth.\" ","defect":true,"group_name":"Ichthyosis, DSP-related","inheritance":{"code":"UD","name":"Dominant"},"inheritance_text":"","mondo_terms":[],"name":"Ichthyosis, syndromic","omia_group_id":2243,"omia_phene_id":6050,"omia_record_id":"OMIA:002243-9615","publication_ids":[128053],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6050","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[{"id":"HP:0000668","iri":"http://purl.obolibrary.org/obo/HP_0000668","label":"hypodontia"},{"id":"HP:0000704","iri":"http://purl.obolibrary.org/obo/HP_0000704","label":"periodontitis"},{"id":"HP:0004528","iri":"http://purl.obolibrary.org/obo/HP_0004528","label":"generalize hypotrichosis"},{"id":"HP:0025080","iri":"http://purl.obolibrary.org/obo/HP_0025080","label":"Orthokeratotic hyperkeratosis"},{"id":"HP:0030804","iri":"http://purl.obolibrary.org/obo/HP_0030804","label":"trachyonychia"},{"id":"MP:0000414","iri":"http://purl.obolibrary.org/obo/MP_0000414","label":"alopecia"},{"id":"MP:0000416","iri":"http://purl.obolibrary.org/obo/MP_0000416","label":"sparse hair"},{"id":"MP:0000580","iri":"http://purl.obolibrary.org/obo/MP_0000580","label":"deform nail"},{"id":"MP:0001222","iri":"http://purl.obolibrary.org/obo/MP_0001222","label":"epidermal hyperplasia"},{"id":"MP:0001510","iri":"http://purl.obolibrary.org/obo/MP_0001510","label":"abnormal coat appearance"},{"id":"MP:0009675","iri":"http://purl.obolibrary.org/obo/MP_0009675","label":"orthokeratosis"},{"id":"MP:0009792","iri":"http://purl.obolibrary.org/obo/MP_0009792","label":"seborrheic dermatitis"},{"id":"MP:0013466","iri":"http://purl.obolibrary.org/obo/MP_0013466","label":"keratoconjunctivitis sicca"},{"id":"MP:0030608","iri":"http://purl.obolibrary.org/obo/MP_0030608","label":"decrease tooth number"}]} +{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Encephalopathy, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2867,"omia_phene_id":6052,"omia_record_id":"OMIA:002867-9615","publication_ids":[128059,129816],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6052","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Shetland Sheepdog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201217"}],"characterised":false,"characterised_year":null,"clinical_features":"Nessler et al. (2020): \"Four female Shetland Sheepdogs (age 2–6 years) were presented due to progressive dyskinetic episodes. ... The episodes were characterized by generalized ataxia with hypermetria and muscular hypertonia of all limbs, dystonia, normal to mildly reduced mentation, and a mild tremor. In the more severe episodes, the dogs were no longer ambulatory. ... The episodes varied from minutes to hours and could start while at rest, or during activity. In case 4, they were triggered by excitement or stress ... . In cases 1–3, hot weather seemed to aggravate the clinical signs. ... Laboratory diagnostic findings included mild lactic acidosis and lactaturia, mild intermittent serum creatine kinase (CK) elevation and hypoglycemia. Electrophysiological tests and magnetic resonance imaging of the brain were unremarkable.\"","defect":true,"group_name":"Dyskinesia, paroxysmal, PCK2-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"paroxysmal exercise-induced dyskinesia","omia_group_id":2868,"omia_phene_id":6054,"omia_record_id":"OMIA:002868-9615","publication_ids":[128068,128069],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6054","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Dachshund, Miniature (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200408"},{"name":"Pug (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201089"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Myelodysplastic syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0018881","iri":"http://purl.obolibrary.org/obo/MONDO_0018881","label":"myelodysplastic syndrome"}],"name":"","omia_group_id":2870,"omia_phene_id":6059,"omia_record_id":"OMIA:002870-9615","publication_ids":[121060,128093,128094,128095,128096,128099,128100,128101,128102,128103,128374],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6059","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Miniature American Shepherd (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200880"}],"characterised":true,"characterised_year":2024,"clinical_features":"Cook et al. (2024) reported that affected Miniature American Shepherd \"dogs were typically young adults ... [displaying] varying degrees of hind limb weakness and ataxia, together with scuffing of the nails/dragging of digits. Kyphosis and a pacing/ambling gait were commonly reported. A cerebellar gait was also noted in several dogs. A few dogs had a reported change in behavior. Seizures were only reported in one dog ... . Overall, in the present cohort of MAS dogs from a wide international genetic pool, the onset of clinical signs was typically around the second year of life, although this varied somewhat between dogs; this variability, to an extent, depended on the astuteness of the owner's observations. Slowly progressive T3-L3 myelopathy signs were observed as the most common clinical presentation, with possible cervical, cerebellar, or forebrain signs also developing. Neither pain nor vestibular signs were reported in affected dogs. Gait abnormalities were always more obvious during the walk compared to faster gaits.\" The disease has a very slow progression and affected dogs may reach more than ten years of age. ","defect":true,"group_name":"Neuroaxonal dystrophy, RNF170-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0030512","iri":"http://purl.obolibrary.org/obo/MONDO_0030512","label":"spastic paraplegia 85, autosomal recessive"}],"name":"","omia_group_id":2876,"omia_phene_id":6067,"omia_record_id":"OMIA:002876-9615","publication_ids":[128134,128789],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6067","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[{"id":"HP:0003690","iri":"http://purl.obolibrary.org/obo/HP_0003690","label":"limb muscle weakness"},{"id":"MP:0000160","iri":"http://purl.obolibrary.org/obo/MP_0000160","label":"kyphosis"},{"id":"MP:0001393","iri":"http://purl.obolibrary.org/obo/MP_0001393","label":"ataxia"},{"id":"MP:0001406","iri":"http://purl.obolibrary.org/obo/MP_0001406","label":"abnormal gait"},{"id":"MP:0002064","iri":"http://purl.obolibrary.org/obo/MP_0002064","label":"seizure"},{"id":"MP:0002183","iri":"http://purl.obolibrary.org/obo/MP_0002183","label":"gliosis"},{"id":"MP:0004924","iri":"http://purl.obolibrary.org/obo/MP_0004924","label":"abnormal behavior"},{"id":"MP:0010047","iri":"http://purl.obolibrary.org/obo/MP_0010047","label":"axonal spheroid"},{"id":"MP:0011730","iri":"http://purl.obolibrary.org/obo/MP_0011730","label":"increase myelin sheath thickness"},{"id":"MP:0031204","iri":"http://purl.obolibrary.org/obo/MP_0031204","label":"hindlimb paresis"}]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Pulmonary hypertension","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":841,"omia_phene_id":6073,"omia_record_id":"OMIA:000841-9615","publication_ids":[128155,130071],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6073","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Greyhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200638"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Drug metabolism, altered","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2421,"omia_phene_id":6106,"omia_record_id":"OMIA:002421-9615","publication_ids":[128287,128288,128289,128295,128300,130363],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6106","source_release":"retrieved-2026-09-12","summary":"Martinez et al. (2024): \"Greyhounds metabolize cytochrome P450 (CYP) 2B11 substrates more slowly than other dog breeds.\"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Bichon Frise (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200163"},{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ataxia, episodic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2909,"omia_phene_id":6208,"omia_record_id":"OMIA:002909-9615","publication_ids":[128900,128901],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6208","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Sjogren syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010030","iri":"http://purl.obolibrary.org/obo/MONDO_0010030","label":"Sjogren syndrome"}],"name":"","omia_group_id":2910,"omia_phene_id":6209,"omia_record_id":"OMIA:002910-9615","publication_ids":[128903,128904,128905],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6209","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ocular squamous cell carcinoma","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":735,"omia_phene_id":6221,"omia_record_id":"OMIA:000735-9615","publication_ids":[128970],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6221","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cystic microphthalmia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":253,"omia_phene_id":6224,"omia_record_id":"OMIA:000253-9615","publication_ids":[128980],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6224","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Haemochromatosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":428,"omia_phene_id":6227,"omia_record_id":"OMIA:000428-9615","publication_ids":[128999,132598],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6227","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Lancashire Heeler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200808"}],"characterised":true,"characterised_year":2025,"clinical_features":"Hytönen et al. (2025): \"affected Lancashire Heeler dogs ... were originally identified by abnormal enamel in the permanent teeth, including severe yellow to brown discoloration, enamel hypoplasia and abrasion leading to exposure of dentin ... . The enamel defects were already apparent upon tooth eruption. ... Two out of three dogs had deformity detected in their front limbs, i.e. outward rotation of front limbs from the elbow joint. ... Abnormal electromyographic findings consistent with demyelinating neuropathy were detected in all three examined dogs and consisted of fibrillation potentials and positive sharp waves occurring predominantly in distal appendicular limb muscles ... . Fibrillation potentials were also detected in paraspinal musculature.\" Reduced motor nerve conduction velocities and decreased compound muscle action potential (CMAP) amplitudes and increased CMAP duration were observed in two out of three affected dogs.\"","defect":true,"group_name":"Charcot-Marie-Tooth disease, ITPR3-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0859311","iri":"http://purl.obolibrary.org/obo/MONDO_0859311","label":"Charcot-Marie-Tooth disease, demyelinating, type 1J"}],"name":"Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta","omia_group_id":2916,"omia_phene_id":6236,"omia_record_id":"OMIA:002916-9615","publication_ids":[129099],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6236","source_release":"retrieved-2026-09-12","summary":"Hytönen et al. (2025) \"report the identification of a homozygous nonsense variant in the ITPR3 gene in Lancashire Heeler dogs, presenting with a severe developmental enamel defect and reduced nerve conduction velocity.\" ","taxon_id":9615,"upheno_terms":[{"id":"HP:0003431","iri":"http://purl.obolibrary.org/obo/HP_0003431","label":"Decreased motor nerve conduction velocity"},{"id":"HP:0003457","iri":"http://purl.obolibrary.org/obo/HP_0003457","label":"EMG abnormality"},{"id":"HP:0009830","iri":"http://purl.obolibrary.org/obo/HP_0009830","label":"Peripheral neuropathy"},{"id":"HP:0033383","iri":"http://purl.obolibrary.org/obo/HP_0033383","label":"Decreased compound muscle action potential amplitude"},{"id":"MP:0000550","iri":"http://purl.obolibrary.org/obo/MP_0000550","label":"abnormal forelimb morphology"},{"id":"MP:0013129","iri":"http://purl.obolibrary.org/obo/MP_0013129","label":"abnormal tooth color"},{"id":"MP:0030544","iri":"http://purl.obolibrary.org/obo/MP_0030544","label":"abnormal enamel development"},{"id":"UPHENO:0081269","iri":"http://purl.obolibrary.org/obo/UPHENO_0081269","label":"enamel hypoplasia"}]} +{"breeds":[{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2024,"clinical_features":"","defect":true,"group_name":"Hyperbiliverdinaemia","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013595","iri":"http://purl.obolibrary.org/obo/MONDO_0013595","label":"hyperbiliverdinemia"}],"name":"Biliverdinuria","omia_group_id":2917,"omia_phene_id":6238,"omia_record_id":"OMIA:002917-9615","publication_ids":[129132],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6238","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[{"id":"HP:0032003","iri":"http://purl.obolibrary.org/obo/HP_0032003","label":"Green urine"},{"id":"HP:0032003","iri":"http://purl.obolibrary.org/obo/HP_0032003","label":"Green urine"},{"id":"MP:0000240","iri":"http://purl.obolibrary.org/obo/MP_0000240","label":"extramedullary hematopoiesis"},{"id":"MP:0000610","iri":"http://purl.obolibrary.org/obo/MP_0000610","label":"cholestasis"},{"id":"MP:0002768","iri":"http://purl.obolibrary.org/obo/MP_0002768","label":"small adrenal glands"},{"id":"MP:0002962","iri":"http://purl.obolibrary.org/obo/MP_0002962","label":"increased urine protein level"},{"id":"MP:0008389","iri":"http://purl.obolibrary.org/obo/MP_0008389","label":"hypochromic macrocytic anemia"},{"id":"MP:0011464","iri":"http://purl.obolibrary.org/obo/MP_0011464","label":"bilirubinuria"},{"id":"UPHENO:0080216","iri":"http://purl.obolibrary.org/obo/UPHENO_0080216","label":"urine color phenotype"},{"id":"UPHENO:0080216","iri":"http://purl.obolibrary.org/obo/UPHENO_0080216","label":"urine color phenotype"}]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Endometritis, predisposition to","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2568,"omia_phene_id":6240,"omia_record_id":"OMIA:002568-9615","publication_ids":[129137],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6240","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Belgian Shepherd Dog, Groenendael (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200145"},{"name":"Belgian Shepherd Dog, Tervueren (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200148"},{"name":"Chow Chow (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200361"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Carcinoma, gastric, predisposition to","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"Hugen et al. (2025)  estimated the heritability of gastric carcinoma (GC) in Tervueren and Groenendael Belgian Shepherds: \"The heritability of GC in the narrow sense was calculated as 0.53 with a standard error of 0.15.\"","mondo_terms":[],"name":"","omia_group_id":2919,"omia_phene_id":6244,"omia_record_id":"OMIA:002919-9615","publication_ids":[129146,129147,129148,129149,129150,129151,129152,129153,129154,129156],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6244","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Height, IGF2BP2-associated body-size variation","inheritance":{"code":"M","name":"Multifactorial"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2921,"omia_phene_id":6248,"omia_record_id":"OMIA:002921-9615","publication_ids":[108432,108601,119103,129174],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6248","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"}],"characterised":true,"characterised_year":2025,"clinical_features":"Oliver et al. (2024): \"Ophthalmic abnormalities observed in [Retinopathy with Vitamin E Deficiency]-affected [English Cocker Spaniel] include lipofuscin granule deposition within the tapetal fundus and subsequent retinal degeneration resulting in visual deficits. Affected dogs may also exhibit neurological signs that include ataxia and hindlimb proprioceptive deficit. In all cases, circulating plasma concentrations of alpha-tocopherol are low.\"","defect":true,"group_name":"Ataxia with isolated vitamin E deficiency","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0010188","iri":"http://purl.obolibrary.org/obo/MONDO_0010188","label":"familial isolated deficiency of vitamin E"}],"name":"Retinopathy with Vitamin E deficiency; central progressive retinal atrophy; vitamin E deficiency retinopathy; retinal pigment epithelial dystrophy","omia_group_id":2922,"omia_phene_id":6249,"omia_record_id":"OMIA:002922-9615","publication_ids":[103363,129175,129176,129177,129178,129179,129180],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6249","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[{"id":"HP:0000546","iri":"http://purl.obolibrary.org/obo/HP_0000546","label":"Retinal degeneration"},{"id":"HP:0100513","iri":"http://purl.obolibrary.org/obo/HP_0100513","label":"Decreased circulating vitamin E concentration"},{"id":"MP:0001393","iri":"http://purl.obolibrary.org/obo/MP_0001393","label":"ataxia"},{"id":"MP:0002090","iri":"http://purl.obolibrary.org/obo/MP_0002090","label":"abnormal vision"}]} +{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2025,"clinical_features":"Murgiano et al. (2025) report 3 affected Labrador retrievers from the same litter with progressive retinal atrophy with onset of clinical signs between 7 month and 1.5 years. \"Two of the dogs developed Addison’s disease .... ; one of these later developed diabetes mellitus and died from a hypoglycemic event.\"","defect":true,"group_name":"Retinal atrophy, progressive, GTPBP2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2926,"omia_phene_id":6271,"omia_record_id":"OMIA:002926-9615","publication_ids":[129302],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6271","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[{"id":"MP:0002090","iri":"http://purl.obolibrary.org/obo/MP_0002090","label":"abnormal vision"},{"id":"UPHENO:0074003","iri":"http://purl.obolibrary.org/obo/UPHENO_0074003","label":"retina degeneration"}]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Heterotopic ossification","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2655,"omia_phene_id":6272,"omia_record_id":"OMIA:002655-9615","publication_ids":[129341],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6272","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Boxer (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200210"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Nephronophthisis","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0019005","iri":"http://purl.obolibrary.org/obo/MONDO_0019005","label":"nephronophthisis"}],"name":"","omia_group_id":2929,"omia_phene_id":6297,"omia_record_id":"OMIA:002929-9615","publication_ids":[129476],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6297","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"}],"characterised":false,"characterised_year":2025,"clinical_features":"Chevallier et al. (2025): \"All the [13 affected] the dogs ... were Chihuahua-like (n = 6) or mixed-breed Chihuahuas (n = 7) born with no forelimbs ... . They all had a scapula on both sides and presented a residual fragment of the humerus engaged in the glenoid cavity that varied in length ... . All of them were missing all bones distal to the humerus.\"","defect":true,"group_name":"Amelia, RSPO2-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0060732","iri":"http://purl.obolibrary.org/obo/MONDO_0060732","label":"tetraamelia syndrome 2"}],"name":"Bilateral anterior amelia (BAA)","omia_group_id":2297,"omia_phene_id":6299,"omia_record_id":"OMIA:002297-9615","publication_ids":[129477,129478],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6299","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[{"id":"HP:0009818","iri":"http://purl.obolibrary.org/obo/HP_0009818","label":"Amelia involving the lower limbs"}]} +{"breeds":[{"name":"Australian Cattle Dog (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200088"},{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Schnauzer, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201189"}],"characterised":false,"characterised_year":null,"clinical_features":"Castillo and Williams (2021) report asymptomatic decrease in red blood cells with various morphological changes of the red blood cells (stomatocytes, knizocytes, mild anisocytosis, mild macrocytosis, and mild polychromasia) in a a Beagle and Australian Cattle Dog.","defect":true,"group_name":"Stomatocytosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2932,"omia_phene_id":6303,"omia_record_id":"OMIA:002932-9615","publication_ids":[129497,129498,129500,129501,129502],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6303","source_release":"retrieved-2026-09-12","summary":"see also OMIA:001178-9615 : Stomatocytosis and gastritis in Canis lupus familiaris (dog) and OMIA:000300-9615 : Dwarfism with anaemia in Canis lupus familiaris (dog) for other forms of stomatocytosis.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Aortic valve stenosis, generic","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0042981","iri":"http://purl.obolibrary.org/obo/MONDO_0042981","label":"aortic valve stenosis"}],"name":"","omia_group_id":2933,"omia_phene_id":6310,"omia_record_id":"OMIA:002933-9615","publication_ids":[110025,116136,120859,129520,129521,129644],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6310","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cataract, CPT1A-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2940,"omia_phene_id":6341,"omia_record_id":"OMIA:002940-9615","publication_ids":[129656],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6341","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Shih Tzu (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201223"}],"characterised":true,"characterised_year":2021,"clinical_features":"","defect":true,"group_name":"Retinal atrophy, progressive, JPH2-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2943,"omia_phene_id":6357,"omia_record_id":"OMIA:002943-9615","publication_ids":[121882,129719],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6357","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Neutrophilic dermatosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2954,"omia_phene_id":6378,"omia_record_id":"OMIA:002954-9615","publication_ids":[129754],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6378","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Schwannomatosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1963,"omia_phene_id":6414,"omia_record_id":"OMIA:001963-9615","publication_ids":[129849],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6414","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":true,"characterised_year":2025,"clinical_features":"Schwarz et al. (2025): \"Three of 11 puppies in a litter of Weimaraner dogs exhibited an abnormal gait characterized by synchronized saltatorial locomotion.\" ... \"The initial presentation included tetraparesis and ataxia on all four limbs with the pelvic limbs being more severely affected. Difficulty in rising on the pelvic limbs and stumbling on the thoracic limbs were observed. The pelvic limb gait showed a bunny-hopping appearance with synchronized saltatorial locomotion. Saltatorial gait was also present on the thoracic limbs. Behavior and mentation were normal and appeared similar between affected and unaffected dogs.\" The affected puppies from Schwarz et al. 2025 were euthanized at 8 weeks of age and further development of their gait abnormalities was not investigated.
Efnb3-/- knockout mice exhibit a similar abnormal gait phenotype characterized by bunny-hopping and saltatorial locomotion (Kullander et al. 2001; Yokoyama et a. 2001).","defect":true,"group_name":"Limb movement, synchronic, EFNB3-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"Congenital mirror movement disorder 1","omia_group_id":2353,"omia_phene_id":6432,"omia_record_id":"OMIA:002353-9615","publication_ids":[121732,129964,129979,129980,130495,130496,132200],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6432","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"English Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200497"},{"name":"Welsh Springer Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201411"}],"characterised":true,"characterised_year":2025,"clinical_features":"Kilpatrick et al. (2025) \"A 7-month-old female spayed English Springer Spaniel (ESS) was evaluated for spontaneous hemoperitoneum. Hyperfibrinolysis was identified on thromboelastography.  ....  Absence of PAI-1 in the proband's platelets was documented using LC–MS/MS.\"","defect":true,"group_name":"Plasminogen activator inhibitor-1 deficiency, SERPINE1-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013227","iri":"http://purl.obolibrary.org/obo/MONDO_0013227","label":"congenital plasminogen activator inhibitor type 1 deficiency"}],"name":"Hyperfibrinolysis","omia_group_id":2967,"omia_phene_id":6446,"omia_record_id":"OMIA:002967-9615","publication_ids":[130077],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6446","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[{"id":"HP:0001892","iri":"http://purl.obolibrary.org/obo/HP_0001892","label":"Abnormal 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hamartoma","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2969,"omia_phene_id":6455,"omia_record_id":"OMIA:002969-9615","publication_ids":[130168,130169],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6455","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Beagle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200131"},{"name":"Pembroke Welsh Corgi (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200995"}],"characterised":true,"characterised_year":2017,"clinical_features":"","defect":false,"group_name":"GST-theta enzyme activity, GSTT1-like-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2971,"omia_phene_id":6458,"omia_record_id":"OMIA:002971-9615","publication_ids":[130236],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6458","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Corpus callosum hypoplasia / dysplasia","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2866,"omia_phene_id":6470,"omia_record_id":"OMIA:002866-9615","publication_ids":[130317],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6470","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":true,"characterised_year":2025,"clinical_features":"","defect":false,"group_name":"Nose, bifid, 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disease"}],"name":"","omia_group_id":3006,"omia_phene_id":6531,"omia_record_id":"OMIA:003006-9615","publication_ids":[130651],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6531","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Aneuploidy, monosomy, sex chromosome","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2979,"omia_phene_id":6542,"omia_record_id":"OMIA:002979-9615","publication_ids":[130099,130673,130676,130686,131369],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6542","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Aneuploidy, trisomy, sex chromosome XXX","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2980,"omia_phene_id":6545,"omia_record_id":"OMIA:002980-9615","publication_ids":[125934,130099,130673,130676],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6545","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Basset Hound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200126"}],"characterised":true,"characterised_year":2025,"clinical_features":"Blake et al. (2025) \"report two young adult Basset Hound (BH) littermates presenting with congestive heart failure, pelvic limb weakness, gastro-intestinal upset, and sudden death.\"","defect":true,"group_name":"Polyglucosan body myopathy, RBCK1-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0014389","iri":"http://purl.obolibrary.org/obo/MONDO_0014389","label":"polyglucosan body myopathy 1 with or without immunodeficiency"}],"name":"glycogen storage disease myopathy","omia_group_id":3010,"omia_phene_id":6566,"omia_record_id":"OMIA:003010-9615","publication_ids":[130716],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6566","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Chromosomal structural anomaly, translocation, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2998,"omia_phene_id":6587,"omia_record_id":"OMIA:002998-9615","publication_ids":[1708,125934],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6587","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Chromosomal structural anomaly, translocation, centric fusion","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2997,"omia_phene_id":6595,"omia_record_id":"OMIA:002997-9615","publication_ids":[24907,125934,131263],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6595","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Aneuploidy, trisomy, sex chromosome XXY","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0006823","iri":"http://purl.obolibrary.org/obo/MONDO_0006823","label":"Klinefelter syndrome"}],"name":"","omia_group_id":2982,"omia_phene_id":6609,"omia_record_id":"OMIA:002982-9615","publication_ids":[131219],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6609","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Chihuahua (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200338"}],"characterised":true,"characterised_year":2025,"clinical_features":"Vinberg et al. (2025) \"investigated a Chihuahua with severe scaling since age 12 weeks. The scaling was generalized and involved the entire body and legs. The paw pads were mildly hyperkeratotic.\"","defect":true,"group_name":"Ichthyosis, ALOXE3-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0011680","iri":"http://purl.obolibrary.org/obo/MONDO_0011680","label":"autosomal recessive congenital ichthyosis 3"}],"name":"","omia_group_id":3011,"omia_phene_id":6682,"omia_record_id":"OMIA:003011-9615","publication_ids":[130843,132518],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6682","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[{"id":"HP:0008064","iri":"http://purl.obolibrary.org/obo/HP_0008064","label":"Ichthyosis"},{"id":"MP:0001192","iri":"http://purl.obolibrary.org/obo/MP_0001192","label":"scaly skin"},{"id":"MP:0001240","iri":"http://purl.obolibrary.org/obo/MP_0001240","label":"abnormal epidermis stratum corneum morphology"},{"id":"MP:0001242","iri":"http://purl.obolibrary.org/obo/MP_0001242","label":"hyperkeratosis"}]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Cystic ovary","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":254,"omia_phene_id":6703,"omia_record_id":"OMIA:000254-9615","publication_ids":[130880],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6703","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Lipofuscinosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1407,"omia_phene_id":6705,"omia_record_id":"OMIA:001407-9615","publication_ids":[130893],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6705","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Ichthyosis, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1993,"omia_phene_id":6713,"omia_record_id":"OMIA:001993-9615","publication_ids":[130954],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6713","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Poodle, Standard (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201056"}],"characterised":true,"characterised_year":2025,"clinical_features":"Murgiano et al. (2025): \"Affected dogs had severe vision deficits present at a young age, generally before 2–3 months of age, and characterized by very poor to absent vision under photopic conditions, but with no evidence of photophobia. ... Full-field electroretinography (ERG) was used for objective assessment of retinal function. .... cone ERG responses were absent as early as 7 weeks of age. We also found that as early as 15 weeks of age, rod responses were reduced by ~60–80% in dogs that showed no vascular attenuation or generalized hyperreflectivity ... . Over time, rod responses were further decreased and no longer recordable, and the ERG was considered ‘extinguished’.\"","defect":true,"group_name":"Retinal atrophy, cone-rod dystrophy, SPATA7-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"Pedigree analysis supported an autosomal recessive mode of inheritance (Murgiano et al., 2025).","mondo_terms":[],"name":"day blindness / retinal degeneration","omia_group_id":3028,"omia_phene_id":6728,"omia_record_id":"OMIA:003028-9615","publication_ids":[131142],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6728","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[{"id":"HP:0000512","iri":"http://purl.obolibrary.org/obo/HP_0000512","label":"Abnormal electroretinogram"},{"id":"HP:0000529","iri":"http://purl.obolibrary.org/obo/HP_0000529","label":"Progressive visual loss"},{"id":"HP:0012047","iri":"http://purl.obolibrary.org/obo/HP_0012047","label":"Hemeralopia"},{"id":"MP:0002001","iri":"http://purl.obolibrary.org/obo/MP_0002001","label":"blindness"},{"id":"MP:0004021","iri":"http://purl.obolibrary.org/obo/MP_0004021","label":"abnormal rod electrophysiology"},{"id":"MP:0004022","iri":"http://purl.obolibrary.org/obo/MP_0004022","label":"abnormal cone electrophysiology"}]} +{"breeds":[{"name":"Basenji (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200120"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Reproductive seasonality","inheritance":{"code":"ADIP","name":"Autosomal dominant with incomplete penetrance"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2385,"omia_phene_id":6731,"omia_record_id":"OMIA:002385-9615","publication_ids":[131167],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6731","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Marfan syndrome","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0007947","iri":"http://purl.obolibrary.org/obo/MONDO_0007947","label":"Marfan syndrome"}],"name":"","omia_group_id":628,"omia_phene_id":6756,"omia_record_id":"OMIA:000628-9615","publication_ids":[132159,132367],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6756","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Miosis","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":3033,"omia_phene_id":6768,"omia_record_id":"OMIA:003033-9615","publication_ids":[132197],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6768","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Labrador Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200800"}],"characterised":true,"characterised_year":2026,"clinical_features":"Rietmann et al. (2026) reported \"At approximately 18 months old, the patient was presented to a veterinarian due to an abnormal growth on one of her outer toes. Upon further examination by a veterinarian, excessive skin growth was observed present on all four paw pads and most of the digital pads to some degree.\"
Rietmann et al. (2026) also reported \"At age approximately 16 months, the owner noticed a decreased or inappropriate reaction to commands or verbal clues and expressed suspicion that the patient may have deafness or impaired hearing function. No further investigation was pursued and to this date no clear diagnosis was made.\"","defect":true,"group_name":"Paw pad hyperkeratosis, GJB6-related","inheritance":{"code":"PD","name":"Probably autosomal dominant"},"inheritance_text":"Rietmann et al. (2026) reported a single affected dog that was born out of unaffected parents. The presumed causal variant was the result of a de novo mutation event and the affected dog was heterozygous at this variant. This suggested autosomal dominant inheritance, although transmission to the next generation was not reported.","mondo_terms":[],"name":"","omia_group_id":3038,"omia_phene_id":6783,"omia_record_id":"OMIA:003038-9615","publication_ids":[132263,132264,132412],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6783","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Tragus, accessory","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":3042,"omia_phene_id":6792,"omia_record_id":"OMIA:003042-9615","publication_ids":[132311],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6792","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":false,"group_name":"Germline mutation rate","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2732,"omia_phene_id":6803,"omia_record_id":"OMIA:002732-9615","publication_ids":[132385],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6803","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Australian Labradoodle (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200092"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Peters anomaly","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":1914,"omia_phene_id":6813,"omia_record_id":"OMIA:001914-9615","publication_ids":[132488],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6813","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Boerboel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200185"}],"characterised":true,"characterised_year":2026,"clinical_features":"","defect":true,"group_name":"Autoimmune lymphoproliferative syndrome, FAS-related","inheritance":null,"inheritance_text":"","mondo_terms":[{"id":"MONDO:0011158","iri":"http://purl.obolibrary.org/obo/MONDO_0011158","label":"autoimmune lymphoproliferative syndrome type 1"}],"name":"","omia_group_id":3045,"omia_phene_id":6823,"omia_record_id":"OMIA:003045-9615","publication_ids":[132515,132516],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6823","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"English Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200486"}],"characterised":true,"characterised_year":2026,"clinical_features":"Bionda et al. (2026) report related male English Cocker Spaniel dogs with a progressive vision deficit. Retinal pathology was recorded around 3-4 years of age with a possible earlier onset of visual impairment.  ","defect":true,"group_name":"Retinal atrophy, progressive, CACNA1F-related","inheritance":{"code":"XLR","name":"X-linked recessive"},"inheritance_text":"","mondo_terms":[],"name":"X-linked progressive retinal atrophy","omia_group_id":3046,"omia_phene_id":6827,"omia_record_id":"OMIA:003046-9615","publication_ids":[132561],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6827","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Monorchidism","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":659,"omia_phene_id":6829,"omia_record_id":"OMIA:000659-9615","publication_ids":[132573],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6829","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Nova Scotia Duck Tolling Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200964"}],"characterised":true,"characterised_year":2026,"clinical_features":"Brown et al. (2026) \"juvenile-onset AD [Addison’s disease, hypoadrenocorticism] in NSDTRs [Nova Scotia Duck Tolling Retrievers] represents part of a broader multiple autoimmune syndrome (MAS) with variable expressivity. Strikingly, NSDTRs affected by juvenile-onset AD had severely decreased lifespans, with a median survival of 2 years despite appropriate treatment.\"","defect":true,"group_name":"Addison’s disease and multiple autoimmune syndrome, RESF1-related","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":3051,"omia_phene_id":6840,"omia_record_id":"OMIA:003051-9615","publication_ids":[132650,132651],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6840","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2026,"clinical_features":"Leonardi et al. (2026): \"Clinical signs included megaesophagus with generalized muscle atrophy in both affected dogs. One dog showed exercise intolerance. Computed tomography (CT) scan revealed bilateral and symmetrical diffuse hypoattenuating muscle lesions. Electromyography was characterized by nonspecific abnormal spontaneous activity in electrodiagnostically affected muscles. ... All clinical signs improved after 3 days of creatine (800-1500 mg/kg/day) and
L-carnitine (80-150 mg/kg) supplementation and remained stable at the time of writing 4 months after diagnosis.\"","defect":true,"group_name":"Myopathy, creatine deficiency disorder, GATM-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":3056,"omia_phene_id":6857,"omia_record_id":"OMIA:003056-9615","publication_ids":[132819,132820],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6857","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2026,"clinical_features":"Shekelle et al. (2026): \"A mixed-breed male puppy had a 6-month history of progressive cerebellar ataxia and head tremors ... .\" without a clinically detectable cause. Euthanasia with a necropsy was elected based on the severity of the puppy's clinical signs and lack of response to treatment. At necropsy, the cerebellum was mildly atrophied, and microscopically there was severe diffuse loss of the cerebellar internal granular cell layer with minimal loss of Purkinje cells (granuloprival degeneration). ","defect":true,"group_name":"Cerebellar atrophy, EMC1-related","inheritance":{"code":"PD","name":"Probably autosomal dominant"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0014811","iri":"http://purl.obolibrary.org/obo/MONDO_0014811","label":"cerebellar atrophy, visual impairment, and psychomotor retardation;"}],"name":"Granuloprival cerebellar cortical degeneration","omia_group_id":3057,"omia_phene_id":6860,"omia_record_id":"OMIA:003057-9615","publication_ids":[132832],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6860","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Jack Russell Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200724"}],"characterised":true,"characterised_year":2026,"clinical_features":"Shelton et al. (2026) \"describe an 8-year-old intact male Jack Russell Terrier with a 9-month history of slowly progressive gait disturbances that advanced over 2 years to generalized stiffness without ataxia and severe bilateral hyperflexion of all limbs. ... Complete blood count and serum biochemistry analysis including creatine kinase activity were normal. Electrophysiological examination showed no abnormalities. Muscle biopsy samples collected at a later stage of the disease showed no abnormalities.\"","defect":true,"group_name":"Ataxia, SETX-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":3058,"omia_phene_id":6861,"omia_record_id":"OMIA:003058-9615","publication_ids":[132840],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6861","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Rottweiler (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201143"}],"characterised":true,"characterised_year":2026,"clinical_features":"Abitbol et al. (2026) reported on a total of 6 affected dogs with non-goitrous hypothyroidism. Their breeders had noticed delayed growth and development two weeks after birth. Affected dogs had increased thyroid-stimulating hormone (TSH) and decreased total thyroxin (total T4) serum concentrations. The condition can be alleviated by oral thyroxin supplementation. However, even under T4 supplementation, the majority of the affected dogs exhibited pronounced dwarfism and painful orthopedic problems. Two affected dogs died at 9 and 10 months, respectively, despite oral thyroxin supplementation. Two other affected dogs had to be euthanised at 5 months of age due to pain and behavioral changes. Two affected dogs reached adulthood under thyroxin supplementation. They were markedly smaller than their non-affected littermates. Other clinical signs included limb deformities, shortening of the tail, abnormally thick skin, fatigue, and behavioral changes.","defect":true,"group_name":"Hypothyroidism and dwarfism, TG-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":3059,"omia_phene_id":6865,"omia_record_id":"OMIA:003059-9615","publication_ids":[110115,132879,132880],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6865","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Border Terrier (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200194"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"},{"name":"Saluki (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201171"},{"name":"Weimaraner (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0201401"}],"characterised":true,"characterised_year":2026,"clinical_features":"Kiener et al. (2026): Affected dogs presented with \"multifocal hyperkeratotic skin lesions. The lesions in male dogs were arranged in a bilaterally symmetrical distribution, whereas in several female cases, lesions followed Blaschko lines and were not symmetric. ...  The appearance of the lesions was reminiscent of tree bark.\"","defect":true,"group_name":"Phloiokeratosis, SUV39H1-related","inheritance":{"code":"XLSD","name":"X-linked incomplete dominant"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":3060,"omia_phene_id":6871,"omia_record_id":"OMIA:003060-9615","publication_ids":[132986],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6871","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Belgian Shepherd Dog, Malinois (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200147"}],"characterised":true,"characterised_year":2026,"clinical_features":"Stee et al. (2026): \"A 7-month-old Belgian Malinois puppy was presented for progressively worsening ataxia and episodes of aggression. General physical examination was unremarkable, and neurological examination revealed ambulatory tetraparesis, spinocerebellar ataxia, thoracic limb pseudo-hypermetria, exaggerated head movements, bilateral vestibular signs and a bilateral divergent strabismus. A magnetic resonance imaging (MRI) of the brain and cervical spinal cord revealed a generalized cerebral atrophy.\"","defect":true,"group_name":"Leukoencephalomyelopathy, NECAP1-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0014360","iri":"http://purl.obolibrary.org/obo/MONDO_0014360","label":"developmental and epileptic encephalopathy, 21"}],"name":"Leukoencephalomyelopathy with oligodendroglial dysplasia, spinocerebellar ataxia","omia_group_id":3061,"omia_phene_id":6873,"omia_record_id":"OMIA:003061-9615","publication_ids":[133016],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6873","source_release":"retrieved-2026-09-12","summary":"See also OMIA:002198-9615 : Retinal atrophy, progressive, NECAP1-related in Canis lupus familiaris (dog) for a different phenotype caused by variants in the same gene.","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Black and Tan Coonhound (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200168"},{"name":"Mixed Breed (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200902"}],"characterised":true,"characterised_year":2026,"clinical_features":"Pieples et al. (2026): \"A 4-month-old male Black and Tan Coonhound presented with spontaneous hemoperitoneum, thrombocytopenia, and persistent bleeding after surgical procedures. .... A functional FXIII deficiency was identified ... .\"","defect":true,"group_name":"Factor XIII deficiency, F13A1-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0013187","iri":"http://purl.obolibrary.org/obo/MONDO_0013187","label":"factor XIII, A subunit, deficiency of"}],"name":"FXIII","omia_group_id":1818,"omia_phene_id":6882,"omia_record_id":"OMIA:001818-9615","publication_ids":[133110,133111],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6882","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Aortic aneurysm, generic","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2094,"omia_phene_id":6940,"omia_record_id":"OMIA:002094-9615","publication_ids":[133319],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6940","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Golden Retriever (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200610"}],"characterised":true,"characterised_year":2025,"clinical_features":"","defect":true,"group_name":"Cardiomyopathy, TNNI3-related","inheritance":{"code":"R","name":"Autosomal recessive"},"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":2331,"omia_phene_id":6950,"omia_record_id":"OMIA:002331-9615","publication_ids":[133430],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6950","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Doberman Pinscher (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200442"}],"characterised":true,"characterised_year":2026,"clinical_features":"Shelton et al. (2026): \"Dancing Doberman Disease, suspected to be neuropathy or neuromyopathy, is characterized by repeated lifting and shifting of the pelvic limbs while standing and frequent sitting. More recently, Doberman Pinschers have been identified with a different and more severe phenotype characterized by a crouched stance and bunny hopping gait in the pelvic limbs that is termed duck walking. Dogs with both phenotypes show pelvic limb weakness, muscle atrophy, and fatigue, and clinical signs can progress to involve the thoracic limbs.\" ","defect":false,"group_name":"Myasthenic syndrome, AGRN-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0014052","iri":"http://purl.obolibrary.org/obo/MONDO_0014052","label":"congenital myasthenic syndrome 8"}],"name":"Dancing Doberman Disease (DDD), Duck Walking Doberman Disease (DWD)","omia_group_id":3073,"omia_phene_id":6956,"omia_record_id":"OMIA:003073-9615","publication_ids":[133500],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6956","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Cocker Spaniel (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200372"}],"characterised":true,"characterised_year":2026,"clinical_features":"Mead et al. (2026): \" Three female Cocker Spaniel siblings presented with chronic rhinitis/bronchitis from day three of life that resisted standard veterinary treatment. Pathophysiological examination of bronchial and nasal mucosal cellular samples using high‐speed video microscopy and electron microscopy ... confirmed the diagnosis of PCD. ... Situs inversus was not observed in the affected pups.\"","defect":false,"group_name":"Ciliary dyskinesia, primary, SPAG1-related","inheritance":{"code":"PR","name":"Probably autosomal recessive"},"inheritance_text":"","mondo_terms":[{"id":"MONDO:0014216","iri":"http://purl.obolibrary.org/obo/MONDO_0014216","label":"primary ciliary dyskinesia 28"}],"name":"","omia_group_id":3074,"omia_phene_id":6958,"omia_record_id":"OMIA:003074-9615","publication_ids":[133512],"single_locus":true,"source_id":"omia","source_record_id":"OMIA:Phene:6958","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[{"name":"Alaskan Malamute (Dog)","vbo_id":"http://purl.obolibrary.org/obo/VBO_0200017"}],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Chorioretinopathy","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":3075,"omia_phene_id":6961,"omia_record_id":"OMIA:003075-9615","publication_ids":[133530],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6961","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} +{"breeds":[],"characterised":false,"characterised_year":null,"clinical_features":"","defect":true,"group_name":"Meniere disease","inheritance":null,"inheritance_text":"","mondo_terms":[],"name":"","omia_group_id":3076,"omia_phene_id":6966,"omia_record_id":"OMIA:003076-9615","publication_ids":[133563],"single_locus":false,"source_id":"omia","source_record_id":"OMIA:Phene:6966","source_release":"retrieved-2026-09-12","summary":"","taxon_id":9615,"upheno_terms":[]} diff --git 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"dog10k", + "name": "Dog10K 2K canid variation release", + "role": "Later population, breed-frequency, consequence, and structural-variant evidence", + "homepage": "https://dog10k.kiz.ac.cn/", + "access_url": "https://zenodo.org/records/8084059", + "citation_url": "https://doi.org/10.5281/zenodo.8084059", + "pinning_strategy": "Pin Zenodo record version and verify published MD5 checksums", + "redistribution": "source-link-only", + "assembly": "UU_Cfam_GSD_1.0", + "notes": "Do not mirror the 51.6 GB release. Produce only a compact, scientifically useful derived index after confirming redistribution terms." + }, + { + "id": "ensembl-compara", + "name": "Ensembl Compara", + "role": "Dog-human-mouse orthology", + "homepage": "https://www.ensembl.org/", + "access_url": "https://ftp.ensembl.org/pub/release-116/tsv/ensembl-compara/homologies/", + "citation_url": "https://www.ensembl.org/info/about/publications/index.html", + "pinning_strategy": "Pin release 116 dog, human, and mouse genome-specific protein_default exports with MD5, SHA-256, byte counts, assemblies, and expected normalized row counts", + "redistribution": "attribution", + "assembly": null, + "notes": "The three genome-specific files must be unioned because Ensembl deliberately partitions pairwise homologies across them. The normalized snapshot uses stable gene IDs and preserves ambiguous cardinalities." + }, + { + "id": "hgnc", + "name": "HUGO Gene Nomenclature Committee", + "role": "Stable HGNC-to-NCBI-Gene-to-Ensembl identifier crosswalk for human evidence", + "homepage": "https://www.genenames.org/", + "access_url": "https://storage.googleapis.com/public-download-files/hgnc/tsv/tsv/hgnc_complete_set.txt", + "citation_url": "https://www.genenames.org/about/guidelines/", + "pinning_strategy": "Record retrieval timestamp, upstream Last-Modified value, byte count, and SHA-256 for the complete-set export", + "redistribution": "attribution", "assembly": null, - "notes": "Map OMIA internal gene identifiers to NCBI Gene. Contact OMIA before a publication that relies on the full dump. Coordinate-bearing records retain their stated assembly." + "notes": "HGNC IDs, NCBI Gene IDs, and Ensembl gene IDs are join keys. Symbols remain display-only and symbol disagreements fail the Monarch transform." }, { "id": "hpo", "name": "Human Phenotype Ontology", "role": "Human phenotype hierarchy and disease annotations", "homepage": "https://hpo.jax.org/", - "access_url": "http://purl.obolibrary.org/obo/hp.obo", + "access_url": "https://github.com/obophenotype/human-phenotype-ontology/releases/tag/v2026-09-01", "citation_url": "https://hpo.jax.org/app/about", - "pinning_strategy": "Use a tagged HPO release and record release date plus SHA-256", + "pinning_strategy": "Pin the v2026-09-01 ontology and matching annotation assets by GitHub release asset ID, byte count, and SHA-256", "redistribution": "attribution", "assembly": null, - "notes": "The production ingest will also pin the matching phenotype annotation release." + "notes": "The ontology is dated 2026-09-01 and phenotype.hpoa declares annotation version 2026-09-02. Asset API URLs are used because name-based browser download URLs can drift when release assets are replaced." }, { - "id": "phenio", - "name": "PHENIO / uPheno", - "role": "Cross-species phenotype mappings and ontology backbone", - "homepage": "https://monarch-initiative.github.io/phenio/", - "access_url": "https://github.com/monarch-initiative/phenio/releases", - "citation_url": "https://monarch-app.monarchinitiative.org/Sources/phenio/", - "pinning_strategy": "Use an immutable GitHub release tag and artifact checksum", + "id": "mgi", + "name": "Mouse Genome Informatics", + "role": "Mouse gene-phenotype, genotype, disease-model, and homology evidence", + "homepage": "https://www.informatics.jax.org/", + "access_url": "https://www.informatics.jax.org/downloads/reports/index.html", + "citation_url": "https://www.informatics.jax.org/mgihome/other/citation.shtml", + "pinning_strategy": "Pin the 2026-09-12 retrieval using Last-Modified timestamps, byte counts, and SHA-256 for each report; verify the embedded MP 2026-08-25 release", "redistribution": "attribution", "assembly": null, - "notes": "Preserve provenance for every integrated source represented through PHENIO." + "notes": "The first direct ingest uses MGI_GenePheno.rpt, MGI_Gene_Model_Coord.rpt, MGI_EntrezGene.rpt, and MPheno_OBO.ontology. Conflicting or unresolved stable IDs are retained for audit and excluded from ranking." }, { "id": "monarch-kg", "name": "Monarch Knowledge Graph", "role": "Human disease-phenotype and gene-disease associations", "homepage": "https://monarchinitiative.org/", - "access_url": "https://data.monarchinitiative.org/monarch-kg/latest/", + "access_url": "https://data.monarchinitiative.org/monarch-kg/2026-09-02/", "citation_url": "https://monarch-app.monarchinitiative.org/", - "pinning_strategy": "Resolve latest to a dated release and record artifact checksums", + "pinning_strategy": "Pin the dated 2026-09-02 metadata and human/mouse association TSVs by byte count and SHA-256; pin a matching stable-ID HGNC crosswalk separately", "redistribution": "processed-only", "assembly": null, - "notes": "Use only required association subsets rather than the complete graph in the browser." + "notes": "Only the human gene-disease and mouse gene-phenotype subsets are materialized. Aggregated MGI evidence retains primary-source provenance and must not be double-counted with direct MGI ingest." }, { - "id": "mgi", - "name": "Mouse Genome Informatics", - "role": "Mouse gene-phenotype, genotype, disease-model, and homology evidence", - "homepage": "https://www.informatics.jax.org/", - "access_url": "https://www.informatics.jax.org/downloads/reports/index.html", - "citation_url": "https://www.informatics.jax.org/mgihome/other/citation.shtml", - "pinning_strategy": "Record retrieval date and checksum for each report", - "redistribution": "attribution", + "id": "omia", + "name": "Online Mendelian Inheritance in Animals", + "role": "Canine disease-gene, breed, causal-variant, and publication evidence", + "homepage": "https://omia.org/", + "access_url": "https://omia.org/static/omia.sql.gz", + "citation_url": "https://omia.org/citing/", + "pinning_strategy": "Pin the 2026-09-12 retrieval of the complete SQL dump and official internal-to-NCBI Gene export by byte count and SHA-256", + "redistribution": "processed-only", "assembly": null, - "notes": "Planned reports include MGI_GenePheno.rpt, MGI_PhenoGenoMP.rpt, HMD_HumanPhenotype.rpt, and HOM_AllOrganism.rpt." + "notes": "The processed canine subset retains unresolved internal gene IDs but excludes them from ranking. Contact OMIA about publications relying on the MySQL dump or extended data. Cite DOI 10.25910/2AMR-PV70 and retain stated reference assemblies." }, { - "id": "ensembl-compara", - "name": "Ensembl Compara", - "role": "Dog-human-mouse orthology", - "homepage": "https://www.ensembl.org/", - "access_url": "https://rest.ensembl.org/documentation/info/homology_symbol", - "citation_url": "https://www.ensembl.org/info/about/publications/index.html", - "pinning_strategy": "Pin Ensembl release and cache the complete required orthology table", + "id": "phenio", + "name": "PHENIO / uPheno", + "role": "Cross-species phenotype mappings and ontology backbone", + "homepage": "https://monarch-initiative.github.io/phenio/", + "access_url": "https://github.com/monarch-initiative/phenio/releases/tag/v2026-09-01", + "citation_url": "https://monarch-app.monarchinitiative.org/Sources/phenio/", + "pinning_strategy": "Pin v2026-09-01, its source commit, and immutable relation-graph and upstream-version asset IDs by byte count and SHA-256", "redistribution": "attribution", "assembly": null, - "notes": "REST is suitable for development; production ETL should use a bulk export where practical." + "notes": "The processed snapshot retains only the entailed reflexive HP/MP/UPHENO subclass closure and the complete upstream version table; the 340 MB integrated relation graph is not redistributed." }, { - "id": "dog10k", - "name": "Dog10K 2K canid variation release", - "role": "Later population, breed-frequency, consequence, and structural-variant evidence", - "homepage": "https://dog10k.kiz.ac.cn/", - "access_url": "https://zenodo.org/records/8084059", - "citation_url": "https://doi.org/10.5281/zenodo.8084059", - "pinning_strategy": "Pin Zenodo record version and verify published MD5 checksums", + "id": "pubmed", + "name": "PubMed (NCBI E-utilities)", + "role": "Clinical phenotype text for the publications OMIA cites, read to curate HPO terms", + "homepage": "https://pubmed.ncbi.nlm.nih.gov/", + "access_url": "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi", + "citation_url": "https://www.ncbi.nlm.nih.gov/home/about/policies/", + "pinning_strategy": "PubMed publishes no release identifier, so the snapshot pins the exact set of identifiers it was built from by SHA-256 over that set, plus the retrieval date. Re-running can legitimately differ if NCBI revises a record.", "redistribution": "source-link-only", - "assembly": "UU_Cfam_GSD_1.0", - "notes": "Do not mirror the 51.6 GB release. Produce only a compact, scientifically useful derived index after confirming redistribution terms." + "assembly": null, + "notes": "Only the abstracts of publications cited by rank-eligible OMIA phenes are retrieved. Text stays in dist/ and is never committed or published; only derived HPO term identifiers reach the browser package. Requests carry a tool and contact string as NCBI asks, and stay under the published rate limit." } ] } diff --git a/docs/BROWSER_SHARDS.md b/docs/BROWSER_SHARDS.md new file mode 100644 index 0000000000000000000000000000000000000000..90766fd49be233aa22ce9a3215f566c3be44ddaa --- /dev/null +++ b/docs/BROWSER_SHARDS.md @@ -0,0 +1,96 @@ +# Versioned browser data shards + +VariantHound's full processed research dataset is too large to ship inside the web application bundle. `pipelines/build_browser_shards.py` converts the verified source snapshots into small, immutable files that can be hosted in the public Hugging Face dataset and fetched on demand. + +## Collections + +| Collection | Contents | Partition key | +|---|---|---| +| `terms` | Active HPO and MP labels, aliases, synonyms, asserted parents, and information content, plus the UPHENO bridge terms | phenotype ID | +| `phenotype_closure` | Entailed reflexive HP/MP/uPheno ancestor relations | phenotype ID | +| `gene_profiles` | Stable-ID human, mouse, and structured canine phenotype profiles | species and gene key | +| `orthology` | Compact Ensembl 116 dog-to-human and dog-to-mouse relations | dog Ensembl gene ID | + +Each collection has 16 buckets selected by the first hexadecimal character of the SHA-256 digest of its partition key. Every filename includes the first 12 characters of its content digest. The stable `manifest.json` records the complete digest, byte size, row count, format, and bucket for every file. + +The generated gzip streams use a zero timestamp and no source filename, so identical inputs produce identical bytes. The builder verifies all source snapshot checksums before reading them and re-verifies the complete output package after writing it. + +The manifest declares `format_version` `1.1.0`. A `1.0.0` package has no information content and no bridge terms, and the runtime loader rejects it outright rather than ranking against it. + +## Information content and the UPHENO bridge + +Similarity is Resnik: the score for two phenotypes is the information content of their most informative common ancestor, normalised by the corpus maximum. Two properties of the pinned data make this non-obvious. + +**Information content is a property of the corpus, so the builder computes it.** For each term `t`, `IC(t) = -ln(P(t))`, where `P(t)` is the share of annotated gene profiles whose phenotype set entails `t` through the pinned closure. Terms no profile entails receive the corpus ceiling, `-ln(1/(N+1))`, so an unannotated term can never look less specific than an annotated one. Values are rounded to six decimals to keep the build byte-reproducible, and the manifest records `annotated_gene_profiles`, `information_content_terms`, and `maximum_information_content`. + +Computing IC in the browser instead was rejected: it would require the entire closure before scoring anything, and the value would then depend on which buckets a session happened to load, so the same query could score differently across sessions. + +**HP and MP are disjoint trees.** Their asserted parents never meet, so a human HPO profile and a mouse MP profile share no common ancestor and every cross-species similarity would be exactly zero. The only bridge is the UPHENO ancestors in `phenotype_closure`. The builder therefore emits UPHENO terms into the `terms` collection as well, carrying their information content. They have no label in the pinned PHENIO release and are never displayed; they exist to be a most informative common ancestor. `statistics.active_terms` counts displayable HP and MP terms, `statistics.bridge_terms` counts the UPHENO additions. + +Consequently the runtime ontology index is built from the closure, not from `parents`. A partially loaded closure degrades to exact matching rather than silently scoring unrelated terms as similar. + +## Runtime loading + +`packages/ranker/src/shards/` implements the browser loader. In order: fetch `manifest.json` with `cache: "no-store"`, validate its shape and reject an unsupported `format_version`, then for each shard verify the SHA-256 of the *compressed* bytes against the manifest before decompressing, decompress with `DecompressionStream("gzip")`, and parse JSONL or TSV. Verified compressed bytes are stored in Cache Storage under `varianthound-dataset-v1`, keyed by build ID and content digest, and are re-verified on every read rather than trusted. The previous build's entries are evicted only after the new build has fully verified, so an interrupted upgrade cannot strand an offline user with no dataset. + +Shards live under an immutable per-build prefix, `///`, so two builds can never share a path. The application origin's service worker skips dataset requests entirely; the loader's own cache is the only cache in that path. + +`terms` and `gene_profiles` are loaded in full. Ranking scores every gene and a phenotype query cannot predict which gene buckets matter, so partial loading there would silently drop candidates. `orthology` and `phenotype_closure` are bucket-addressable and can be narrowed once a candidate set exists. + +Candidate genes are keyed on the dog Ensembl gene from the pinned orthology snapshot, with human and mouse evidence attached through their ortholog Ensembl IDs. Canine OMIA profiles are keyed on NCBI Gene, so they are emitted as their own unfused candidates and the canine evidence track stays empty for orthology-keyed genes until the pinned dog NCBI-Ensembl crosswalk lands. Joining them by symbol is prohibited. + +Discovery masking is applied when the dataset is constructed, before any profile, feature or score exists. The ranker re-applies it as defence in depth. + +## Publishing a build + +```bash +npm run build:browser +npm run publish:browser -- --bucket varianthound-data --dry-run +npm run publish:browser -- --bucket varianthound-data +``` + +The publisher re-verifies the package before uploading anything, writes shards +under `/` with a one-year immutable cache, and publishes +`manifest.json` last with `no-store` so a reader can never see a manifest +pointing at objects that are not there yet. + +Shards are deliberately served **without** `Content-Encoding: gzip`. The +manifest digests the compressed bytes and the loader verifies them before +decompressing; if the origin advertised gzip encoding the browser would inflate +the body transparently and every checksum would fail. They are opaque +`application/gzip` payloads that the application decompresses itself. + +`infra/r2-cors.json` holds the bucket CORS rules, in the `{"rules": [...]}` +shape the R2 API expects (not the S3-style `AllowedOrigins` array the dashboard +displays): + +```bash +npx wrangler r2 bucket cors set varianthound-data --file infra/r2-cors.json +``` + +## Regenerating the test fixture + +The TypeScript loader tests run against a miniature package committed at `packages/ranker/test/fixtures/browser/`, built through the same code path: + +```bash +python3 pipelines/build_fixture_shards.py # regenerate +python3 pipelines/build_fixture_shards.py --check # fail if it has drifted +``` + +Regenerate and commit it whenever the shard format changes; `pipelines/tests/test_build_fixture_shards.py` fails the build if you forget. + +## Stable identity and exclusions + +Human HPO profiles use Ensembl IDs when the pinned Monarch/HGNC crosswalk supplies one, otherwise NCBI Gene remains the key. Mouse profiles use the direct MGI stable-ID crosswalk and exclude unresolved, conflicting, and ambiguous multi-gene evidence. Canine OMIA profiles retain discovery mask IDs but enter the browser semantic set only when OMIA supplies a structured phenotype identifier. + +Dog OMIA records currently use NCBI Gene while the Ensembl orthology snapshot uses dog Ensembl IDs. They are not joined by symbol. Cross-species canine fusion remains blocked until a separately pinned dog NCBI–Ensembl gene crosswalk is added. + +## Reproduction + +After materializing every pinned source, run: + +```bash +npm run build:browser +``` + +The Hugging Face publication workflow builds the shards after all source ingestors and packages them under `data/browser/`. Raw upstream databases are never copied into the browser package. diff --git a/docs/DATA.md b/docs/DATA.md index 63595ade1b27cff662a9fc697773211d2fe4d7dd..54f860035303f01eec6132b5a3f3a88d88efd20d 100644 --- a/docs/DATA.md +++ b/docs/DATA.md @@ -1,45 +1,66 @@ -# Data sources and provenance - -## Planned authoritative sources - -| Source | Role | Access strategy | -|---|---|---| -| OMIA | Canine disease-gene and causal-variant evidence | Official SQL/XML dump and NCBI gene mapping | -| HPO | Human phenotype ontology and annotations | Pinned release files | -| Monarch / PHENIO | Cross-species mappings and disease evidence | Release TSV/SQLite subsets | -| MGI | Mouse gene-phenotype and homology evidence | Official reports | -| Ensembl | Dog-human-mouse orthology | Pinned bulk export or cached REST ingest | -| Dog10K | Population and breed-aware frequency evidence | Later compact derived index from official BCF files | - -## Required provenance fields - -Every processed row must remain traceable through: - -- source identifier; -- source record identifier; -- source release or retrieval date; -- source URL; -- citation; -- evidence species; -- transformation version; -- genome assembly for coordinate-bearing records. - -## Assembly policy - -Coordinates from `UU_Cfam_GSD_1.0`, CanFam3.1, ROS_Cfam, or another assembly are never mixed silently. Liftover results must retain both original and target coordinates plus the chain-file version and mapping status. - -## Gene identity and orthology policy - -Ensembl and NCBI Gene identifiers are the stable join keys. Gene symbols and aliases are retained for display and search, never used alone to merge records. Dog-human and dog-mouse edges retain their Ensembl release, species annotation assemblies, homology type, confidence, ambiguity status, and source record ID. - -The checked-in orthology manifest starts in an `unmaterialized` state and therefore contains no mapping rows. It may move to `pinned` only after a complete source artifact, checksum, assemblies, and unresolved-ID report exist. See [Gene identity and orthology](ORTHOLOGY.md). - -## Hugging Face publication - -`pipelines/build_hf_release.py` creates a compact, deterministic release beneath `dist/` from an explicit allowlist. The output includes viewer-friendly benchmark JSONL, provenance manifests, schemas, documentation, and a checksum manifest. `pipelines/publish_huggingface.py` re-verifies the package and uploads it only to a public Hugging Face Dataset repository named explicitly by the operator. - -Publication is manual. `HF_TOKEN` is read only from the environment or a GitHub Actions secret; it is never accepted as a command-line value or stored in a generated file. Complete upstream database exports and source-link-only artifacts are excluded. - -## Demonstration snapshot - -The repository currently ships a deliberately small hand-curated ontology and evidence snapshot. `VH:*` identifiers are internal demonstration terms, not a replacement veterinary phenotype ontology. Production data will preserve HPO, MP, MONDO, OMIA, NCBI Gene, and Ensembl identifiers. +# Data sources and provenance + +## Planned authoritative sources + +| Source | Role | Access strategy | +|---|---|---| +| OMIA | Canine disease-gene and causal-variant evidence | Official SQL/XML dump and NCBI gene mapping | +| HPO | Human phenotype ontology and annotations | Pinned release files | +| HGNC | Stable human identifier crosswalk | Checksum-pinned complete-set export | +| Monarch / PHENIO | Cross-species mappings and disease evidence | Dated Monarch subsets plus a compact pinned PHENIO closure | +| MGI | Mouse gene-phenotype and homology evidence | Official reports | +| Ensembl | Dog-human-mouse orthology | Pinned bulk export or cached REST ingest | +| Dog10K | Population and breed-aware frequency evidence | Later compact derived index from official BCF files | + +## Required provenance fields + +Every processed row must remain traceable through: + +- source identifier; +- source record identifier; +- source release or retrieval date; +- source URL; +- citation; +- evidence species; +- transformation version; +- genome assembly for coordinate-bearing records. + +## Assembly policy + +Coordinates from `UU_Cfam_GSD_1.0`, CanFam3.1, ROS_Cfam, or another assembly are never mixed silently. Liftover results must retain both original and target coordinates plus the chain-file version and mapping status. + +## Gene identity and orthology policy + +Ensembl and NCBI Gene identifiers are the stable join keys. Gene symbols and aliases are retained for display and search, never used alone to merge records. Dog-human and dog-mouse edges retain their Ensembl release, species annotation assemblies, homology type, confidence, ambiguity status, and source record ID. + +The checked-in lightweight orthology manifest remains in an `unmaterialized` state so ordinary source checkouts cannot accidentally claim production evidence. The Ensembl 116 release descriptor pins three official genome-specific exports, their MD5 and SHA-256 digests, byte counts, assemblies, and exact expected normalized counts. `pipelines/ingest_ensembl_orthology.py` verifies and unions those partitions into a `pinned` snapshot. See [Gene identity and orthology](ORTHOLOGY.md). + +## HPO release policy + +The HPO module pins ontology release `v2026-09-01` and the matching `2026-09-02` disease annotations by immutable GitHub release asset ID, byte count, and SHA-256. It materializes ontology, gene-phenotype, and disease-phenotype JSONL files plus a checksum manifest. The snapshot is explicitly `current-snapshot-only`; it is ineligible for temporal evaluation. See [Human Phenotype Ontology ingestion](HPO.md). + +## Monarch release policy + +The Monarch module uses the dated `2026-09-02` KG association subsets, not the moving `latest` path. A separately pinned HGNC export resolves human HGNC identifiers to Ensembl and NCBI Gene IDs without symbol joins. Deterministic evidence IDs support pre-feature masking, and exact duplicate source rows are collapsed. Integrated MGI rows retain their primary-source attribution and cannot be counted independently from direct MGI evidence. See [Monarch Knowledge Graph ingestion](MONARCH.md). + +## MGI release policy + +The direct MGI module checksum-pins four moving official reports as a retrieval-dated snapshot and verifies the embedded MP ontology release. MGI-to-NCBI mappings from two reports are reconciled explicitly: disagreements and unresolved markers remain visible but are not rank-eligible. Direct MGI and Monarch's MGI-derived associations are provenance-linked inputs, not independent evidence. See [Direct MGI ingestion](MGI.md). + +## OMIA release policy + +The OMIA module checksum-pins the moving MySQL dump and its separate official internal-to-NCBI Gene export as a retrieval-dated pair. It materializes only the canine subset, never joins on symbols, retains unresolved gene mappings for audit, and excludes those rows from ranking. Deterministic evidence and binomial OMIA record IDs are available for pre-feature discovery masking. The snapshot is current-only and cannot support temporal evaluation. See [Canine OMIA ingestion](OMIA.md). + +## PHENIO release policy + +The PHENIO module pins release `v2026-09-01`, its source commit, immutable relation-graph and upstream-version asset IDs, byte counts, and SHA-256 digests. It scans the complete entailed relation graph but emits only the reflexive HP/MP/uPheno subclass closure required for deterministic cross-species similarity. The upstream ontology version table is retained intact. This current snapshot cannot support historical temporal evaluation. See [PHENIO / uPheno ingestion](PHENIO.md). + +## Hugging Face publication + +`pipelines/build_hf_release.py` creates a deterministic release beneath `dist/` from an explicit allowlist. The output includes viewer-friendly benchmark JSONL, the selected validated orthology snapshot, optional verified HPO, Monarch, MGI, processed canine OMIA, and compact PHENIO snapshots, provenance manifests, schemas, documentation, and a checksum manifest. `pipelines/publish_huggingface.py` re-verifies the package and uploads it only to a public Hugging Face Dataset repository named explicitly by the operator. + +Publication is manual. `HF_TOKEN` is read only from the environment or a GitHub Actions secret; it is never accepted as a command-line value or stored in a generated file. Complete upstream database exports and source-link-only artifacts are excluded. + +## Demonstration snapshot + +The repository currently ships a deliberately small hand-curated ontology and evidence snapshot. `VH:*` identifiers are internal demonstration terms, not a replacement veterinary phenotype ontology. Production data will preserve HPO, MP, MONDO, OMIA, NCBI Gene, and Ensembl identifiers. diff --git a/docs/EVALUATION.md b/docs/EVALUATION.md index 8dc13234baf48b18a66b5733591066f5f88152d7..c8b2274e70f53bb6f9de104b78cfe7cb08d681c4 100644 --- a/docs/EVALUATION.md +++ b/docs/EVALUATION.md @@ -34,3 +34,106 @@ Report top-1, top-5, and top-10 recall, mean reciprocal rank, nDCG, bootstrap co ## Learned-model gate The deterministic semantic-similarity and weighted-fusion system remains the default. A learned ranker is considered only when the versioned [learned-ranking readiness gate](ML_READINESS.md) passes. Start with a regularized linear model. Adopt it only when improvement over the deterministic model is stable under discovery and temporal testing; otherwise keep the deterministic model. + +## Running it + +```bash +npm run build:cases # regenerate cases from pinned OMIA + curation + crosswalk +npm run evaluate -- --package dist/browser +``` + +The report is written to `dist/evaluation/report.json` and printed as a summary. + +## What the harness does, and why + +**Cases come from data, not from invention.** `pipelines/build_benchmark_cases.py` +emits a case only when OMIA marks the record rank-eligible, the causal gene has +a **corroborated** crosswalk entry (so the answer key is an Ensembl gene the +ranker can actually return), at least three phenotype terms exist, and OMIA +records a characterisation year. On the pinned 2026-09 snapshots that yields +**89 cases across 88 disease groups**, replacing three cases built on `VH:` +placeholder identifiers that could not be replayed against the real ontology at +all. + +**Groups, not rows.** Several OMIA records can describe one disorder, so every +aggregate is grouped by `disease_group_id` and the bootstrap resamples groups. +Resampling rows would treat two views of one disease as two independent pieces +of evidence and produce confidence intervals that are too narrow. + +**The dataset is rebuilt per case.** `evaluate` takes a `datasetFor(case)` +function rather than one prepared dataset, so each case's canine evidence is +masked *before* any profile or feature exists. Handing it a single shared +dataset would quietly score Mode 2 against unmasked evidence, which is the +exact failure this project exists to avoid. A test asserts the per-case call. + +Rebuilding per case is a masking requirement, not a cost the run has to pay in +full. Masking removes canine observations; it never touches the ontology, the +orthology snapshot, or any human or mouse profile. So `toRankDataset` derives +everything mask-invariant once per shard package and takes the canine decision +fresh on every call, and the ranker reuses one ontology index across datasets +built from the same terms and closure. Tests assert both: that two builds from +one package share the term array but not the masking, and that giving the same +terms a different closure — which is exactly what the `no-closure` ablation +does — builds a separate index rather than borrowing the bridged one. + +A full run is eight passes (four ablations x two modes) over every case, and it +prints a per-case progress line. If it appears to hang with no progress line, +that is a bug, not a long computation. + +**A missing gene is a miss.** If the expected gene is not a candidate at all, +the case counts as zero at every k rather than being dropped. Dropping it would +flatter every number. + +**Modes are never pooled.** The harness reports Mode 1 and Mode 2 separately +and refuses to combine them. + +## The circularity you must not ignore + +81 of the 89 cases take their phenotypes from the curation, which was derived +from OMIA clinical text — the same text that produced the canine profile for +the expected gene. **In Mode 1 those cases ask the system to match a string to +itself.** The report marks them `circular` and says so in its notes. + +Mode 2 masks the canine evidence for the case's own disease, so a correct +answer has to come from the human and mouse orthologs, whose annotations are +independent of OMIA. **Only Mode 2 is a discovery measurement.** A Mode 1 +number from this case set is not a result worth reporting. + +## Ablations + +Each mode is also run with one evidence source removed: + +| Ablation | Question it answers | +|---|---| +| `human-only` | how much of the signal is human disease annotation? | +| `mouse-only` | how much is mouse knockout phenotype? | +| `no-closure` | how much depends on the UPHENO bridge? Without it HP and MP are disjoint and cross-species similarity is structurally zero. | + +The `no-closure` ablation is the one to watch. If Mode 2 performance barely +moves when the closure is removed, cross-species transfer is not doing the work +the design claims it is. On build `291112557587bf90` it moves: MRR 0.096 with +the closure against 0.050 without. + +## Masking policy + +Mode 2 is reported under two policies and they are never collapsed. + +| Policy | What it withholds | What it asks | +|---|---|---| +| `no-canine` | every direct canine observation, from every candidate | can human and mouse orthologs find this gene at all | +| `own-disease` | only the canine records for the case's own disorder | this disease is new, the rest of OMIA is known | + +`no-canine` is the headline. `own-disease` sounds like the more realistic +simulation, and it is a fair question, but it makes the expected gene the one +candidate guaranteed to have no canine evidence while every competitor keeps +theirs — so any scoring rule that values canine evidence penalises the right +answer by construction. That is not a hypothetical: it cost a factor of five in +top-5 before it was found. See `docs/EVALUATION-FINDINGS.md`. + +## Scoring choices are measured, not assumed + +`npm run sweep` re-runs the benchmark across fusion parameters, and +`npm run sweep -- --what measures` across similarity measures. Both defaults in +`packages/ranker/src/fusion.ts` and `semantic.ts` were set from those curves +and carry the numbers in their comments. Re-run the sweeps after any change to +the evidence mix; the optima move with it. diff --git a/docs/HPO.md b/docs/HPO.md new file mode 100644 index 0000000000000000000000000000000000000000..26052d45a8bc89c01732b4fa76ee246b9ff1e3f2 --- /dev/null +++ b/docs/HPO.md @@ -0,0 +1,38 @@ +# Human Phenotype Ontology ingestion + +VariantHound uses HPO as the human phenotype hierarchy and as the source of human disease and gene phenotype annotations. The production snapshot is pinned to ontology release `v2026-09-01`; `phenotype.hpoa` declares annotation version `2026-09-02`. + +## Pinned assets + +`data/manifests/hpo-2026-09-01.json` records the immutable GitHub release asset ID, byte count, and SHA-256 for: + +- `hp.obo` — ontology terms, synonyms, alternate IDs, obsolescence, replacements, and `is_a` edges; +- `genes_to_phenotype.txt` — NCBI Gene-to-HPO associations with disease and frequency context; +- `phenotype.hpoa` — disease-to-HPO annotations, including evidence, references, frequencies, and negation. + +Downloads use the GitHub asset API URL (`/releases/assets/{asset_id}`) with `Accept: application/octet-stream`. The public filename URL is retained for provenance, but is not used for reproducible retrieval: GitHub release assets are replaceable and the filename URL can therefore return bytes that do not match the release asset record. + +## Materialization + +```bash +npm run ingest:hpo -- --download +``` + +The command verifies every raw artifact before parsing and writes four deterministic files under `dist/hpo/materialized/`: + +| File | Contents | +|---|---| +| `ontology_terms.jsonl` | One ontology term per line, sorted by HPO ID | +| `gene_phenotypes.jsonl` | Human gene-phenotype rows with NCBI Gene IDs | +| `disease_annotations.jsonl` | Disease-phenotype rows with explicit `negated` state | +| `snapshot.json` | Release metadata, exact counts, output byte sizes, and SHA-256 digests | + +The ingest fails on checksum drift, unexpected headers, invalid stable IDs, unresolved HPO identifiers, annotation-version drift, or any exact-count change. Empty values and the HPO `-` sentinel become JSON `null`; source identifiers, evidence codes, frequencies, references, and curation strings are otherwise preserved. + +## Leakage boundary + +This release is a current snapshot and is marked `current-snapshot-only`. It may be used for the normal current-data ranking mode, but it must not be used to claim historical or temporal discovery performance. A temporal benchmark requires a separately pinned HPO and annotation snapshot whose release predates the held-out case. Direct disease and evidence masks are applied after source ingestion and before feature construction. + +## Scope + +This module normalizes the HPO layer only. It does not infer dog-to-human mappings, merge genes by symbol, or combine Monarch, MGI, or OMIA evidence. Those sources have independent pins and ingestors so their provenance and failure modes remain separable. diff --git a/docs/METHODS.md b/docs/METHODS.md index 0c7ac69de7bb3187a28be82d8c45476572b0b5fa..76f6320f0193d2fdb191ee203f3575346487ff94 100644 --- a/docs/METHODS.md +++ b/docs/METHODS.md @@ -15,20 +15,59 @@ The two directions prevent a large generic evidence profile from receiving an un ## Evidence fusion -Each gene receives independent canine, human, and mouse phenotype scores. Source-specific ranked lists are fused using semantic-strength-weighted reciprocal-rank fusion (RRF). Squaring the normalized semantic strength prevents several weak, generic matches from overwhelming one highly specific phenotype match. The demonstration weights are: +Each gene receives independent canine, human, and mouse phenotype scores. They +are combined as the best weighted match plus corroboration at a discount: take +the weighted source scores in descending order `s1 >= s2 >= s3` and compute + +``` +1 - (1 - s1) x (1 - d.s2) x (1 - d^2.s3) +``` + +Read it as the chance that at least one species' annotation identifies this +gene, where a second and third agreeing species help with diminishing returns. +The rule is monotone in every source score, bounded in [0, 1], and depends on +nothing but the scores. | Track | Weight | |---|---:| -| Direct canine evidence | 1.20 | -| Human disease evidence | 1.00 | -| Mouse model evidence | 0.85 | - -The RRF constant is 10 for the small demonstration corpus. Production constants and weights must be selected on training folds only. +| Direct canine evidence | 1.000 | +| Human disease evidence | 0.833 | +| Mouse model evidence | 0.708 | + +The corroboration discount `d` is 0.6, chosen by sweeping the benchmark rather +than by judgement: mean reciprocal rank runs 0.082, 0.087, 0.091, **0.095**, +0.083, 0.076 at d = 0.2, 0.3, 0.45, 0.6, 0.8, 1.0. Re-run `npm run sweep` after +any change to the evidence mix; the optimum moves with it. + +### Why not reciprocal rank fusion + +Earlier revisions used semantic-strength-weighted reciprocal rank fusion, which +added `weight x score^2 / (k + rank_within_source)`. It was retired because +rank within a source depends on how many candidates that source annotates at +all, and the sources differ by fortyfold — 354 canine profiles, 5,329 human +and 14,590 mouse in the current build. A gene with any canine annotation sat +near the top of a 300-long list almost by default, while a genuinely good human +match sat at rank 500 of twelve and a half thousand and earned nothing. On the +benchmark this let genes with zero human and zero mouse similarity win +outright, and it made *adding* mouse evidence halve discovery performance. The +implementation is retained as `reciprocalRankFusion` so the comparison stays +reproducible, but it is not used in production ranking. ## Evaluation modes - **Mode 1 — clinical retrieval (`known`):** all available evidence is allowed. It measures retrieval of established knowledge, not discovery. -- **Mode 2 — discovery simulation (`discovery`):** target canine evidence is removed by evidence and disease identifiers before scoring. Human, mouse, and unrelated canine evidence may remain. +- **Mode 2 — discovery simulation (`discovery`):** canine evidence is withheld + in the data layer, before any profile or feature is constructed, under one of + two policies that are reported side by side and never combined. + - `no-canine` withholds every direct canine observation from every candidate. + This is the headline: it is the leave-the-species-out question the project + claims to answer. + - `own-disease` withholds only the canine records for the case's own + disorder. It sounds like the more realistic simulation, but it makes the + expected gene the single candidate guaranteed to have no canine evidence + while every competitor keeps theirs, so any rule that values canine + evidence penalises the right answer by construction. It is reported, and it + reads five times worse than `no-canine` for exactly that reason. - **Mode 3 — temporal validation (`temporal`):** uses a pre-materialized historical knowledge snapshot and removes evidence that was unavailable after the cutoff. Undated evidence is excluded rather than guessed. Temporal mode fails closed: the ranker refuses to run unless the dataset declares a snapshot cutoff no newer than the requested evaluation cutoff. This code-level check complements, but does not replace, source-release archiving in the ETL layer. diff --git a/docs/MGI.md b/docs/MGI.md new file mode 100644 index 0000000000000000000000000000000000000000..f3450a874e64444bd23df5cbde334c21de96f739 --- /dev/null +++ b/docs/MGI.md @@ -0,0 +1,41 @@ +# Direct MGI ingestion + +VariantHound treats Mouse Genome Informatics as the primary source for mouse genotype-to-Mammalian Phenotype evidence. The snapshot uses the official reports retrieved on 2026-09-12 and the MP ontology release declared as `2026-08-25`. + +## Pinned inputs + +`data/manifests/mgi-2026-09-12.json` pins byte counts, Last-Modified timestamps, and SHA-256 digests for: + +- `MGI_GenePheno.rpt` — genotype-to-MP annotations; +- `MGI_Gene_Model_Coord.rpt` — GRCm39 NCBI/Ensembl gene models; +- `MGI_EntrezGene.rpt` — official MGI marker-to-NCBI Gene mappings; +- `MPheno_OBO.ontology` — the MP hierarchy. + +MGI exposes these reports at moving URLs rather than dated archive paths. This snapshot is therefore retrieval-dated, checksum-pinned, and marked `current-snapshot-only`; refreshing it is a deliberate new data release. + +## Identifier reconciliation + +The two official MGI crosswalk reports are compared rather than assigned an arbitrary priority. This release contains ten MGI IDs with conflicting NCBI Gene IDs between the reports; two occur in phenotype evidence and affect 26 rows. Another 1,917 phenotype-bearing marker IDs have no Ensembl or NCBI join ID and affect 6,487 rows. + +All such data is retained for audit, with `id_status` or `mapping_status` set to `conflict` or `unresolved`, but `rank_eligible` is false. No symbol-only join is attempted. The remaining 276,606 genotype-phenotype rows are rank-eligible. + +## Materialization + +```bash +npm run ingest:mgi -- --download +``` + +The command produces: + +| File | Contents | +|---|---| +| `mp_terms.jsonl` | MP IDs, labels, hierarchy, alternate IDs, and obsolescence | +| `gene_crosswalk.jsonl` | Every phenotype-bearing MGI marker and its reconciled stable IDs/status | +| `genotype_phenotypes.jsonl` | Genotype, allele, background, publication, MP, and mapping status | +| `snapshot.json` | Source provenance, safety policies, exact counts, and output checksums | + +Each evidence row has a deterministic `MGI-EVIDENCE:` ID derived from all eight source columns. These IDs and genotype/disease groupings are available to the masking layer before feature construction. + +## Monarch overlap + +The Monarch mouse association export is a downstream integrated view of MGI. Direct MGI and Monarch records must be provenance-linked and deduplicated before scoring; they are not independent supporting observations. Direct MGI provides the richer genotype, allele, background, and publication context and is the preferred primary evidence record. diff --git a/docs/ML_READINESS.md b/docs/ML_READINESS.md index 1c5924b2b7b4367feffc0e1ec0665593deb43ade..35f32037992eb821f3dced0ac9ef5de56b2ecaf5 100644 --- a/docs/ML_READINESS.md +++ b/docs/ML_READINESS.md @@ -1,39 +1,39 @@ -# Learned-ranking readiness gate - -VariantHound's deterministic semantic-similarity and weighted-evidence ranker is the production method. A learned ranker is not assumed to be an upgrade and cannot replace the deterministic method merely because it fits the available cases. - -## Independent unit - -The unit of evidence is `disease_group_id`, not a variant, publication, breed, phenotype row, or duplicated source edge. All cases describing the same causal disease discovery remain in the same fold. This prevents several records about one biological finding from inflating the effective sample size. - -## Data gate - -The versioned policy requires, before a promotion claim can be evaluated: - -- at least 100 discovery-evaluable cases; -- at least 100 independent disease groups; -- at least 30 temporally evaluable cases from pinned historical snapshots; -- at least 30 independent disease groups in temporal evaluation. - -These are conservative project guardrails, not a substitute for a prospective power calculation. Changing them requires a reviewed policy version before inspecting temporal holdout results. - -## Promotion gate - -A candidate must pass both discovery and temporal modes. In each mode it must: - -1. improve mean reciprocal rank by at least 0.03; -2. improve recall@10 by at least 0.02; -3. have the lower bound of a paired 95% bootstrap interval for MRR improvement above zero, using at least 5,000 resamples; -4. avoid an MRR regression greater than 0.02 in any declared subgroup. - -The leakage audit must pass, and hyperparameters must be frozen before temporal evaluation. The evaluation report schema is `schemas/learned-model-evaluation.schema.json`. - -## Current decision - -Run: - -```bash -npm run assess:ml -``` - -The checked-in demonstration set has three independent disease groups and no materialized temporal cases, so the expected result is `retain-deterministic`. A non-ready result is a valid scientific outcome and does not fail CI. Release automation may use `--require-promotion` only when deliberately testing a candidate for replacement. +# Learned-ranking readiness gate + +VariantHound's deterministic semantic-similarity and weighted-evidence ranker is the production method. A learned ranker is not assumed to be an upgrade and cannot replace the deterministic method merely because it fits the available cases. + +## Independent unit + +The unit of evidence is `disease_group_id`, not a variant, publication, breed, phenotype row, or duplicated source edge. All cases describing the same causal disease discovery remain in the same fold. This prevents several records about one biological finding from inflating the effective sample size. + +## Data gate + +The versioned policy requires, before a promotion claim can be evaluated: + +- at least 100 discovery-evaluable cases; +- at least 100 independent disease groups; +- at least 30 temporally evaluable cases from pinned historical snapshots; +- at least 30 independent disease groups in temporal evaluation. + +These are conservative project guardrails, not a substitute for a prospective power calculation. Changing them requires a reviewed policy version before inspecting temporal holdout results. + +## Promotion gate + +A candidate must pass both discovery and temporal modes. In each mode it must: + +1. improve mean reciprocal rank by at least 0.03; +2. improve recall@10 by at least 0.02; +3. have the lower bound of a paired 95% bootstrap interval for MRR improvement above zero, using at least 5,000 resamples; +4. avoid an MRR regression greater than 0.02 in any declared subgroup. + +The leakage audit must pass, and hyperparameters must be frozen before temporal evaluation. The evaluation report schema is `schemas/learned-model-evaluation.schema.json`. + +## Current decision + +Run: + +```bash +npm run assess:ml +``` + +The checked-in demonstration set has three independent disease groups and no materialized temporal cases, so the expected result is `retain-deterministic`. A non-ready result is a valid scientific outcome and does not fail CI. Release automation may use `--require-promotion` only when deliberately testing a candidate for replacement. diff --git a/docs/MONARCH.md b/docs/MONARCH.md new file mode 100644 index 0000000000000000000000000000000000000000..2358325eb0520bcf6b556d7d498d2dd1acabef6c --- /dev/null +++ b/docs/MONARCH.md @@ -0,0 +1,36 @@ +# Monarch Knowledge Graph ingestion + +VariantHound uses the dated Monarch KG `2026-09-02` release for two compact, provenance-rich association views: + +- human gene-to-disease associations; +- mouse gene-to-Mammalian Phenotype associations. + +The latter is an integrated view whose primary source is MGI. It is retained for comparison and provenance, but it must not be scored as an independent evidence track alongside the same underlying direct MGI record. + +## Stable human identifiers + +Monarch represents human genes with HGNC IDs. `data/manifests/monarch-kg-2026-09-02.json` therefore also pins the official HGNC complete-set export retrieved on 2026-09-12. The transform resolves each HGNC ID to NCBI Gene and Ensembl gene IDs before publication. Symbols are checked for disagreement but remain display fields, never join keys. + +Of 4,800 human genes in this release, 4,799 have both NCBI Gene and Ensembl IDs; one has an NCBI Gene ID but no Ensembl ID. No human association is accepted without at least one stable cross-database join ID. + +## Materialization + +```bash +npm run ingest:monarch -- --download +``` + +The command verifies four pinned inputs and writes: + +| File | Contents | +|---|---| +| `human_gene_disease.jsonl` | Deduplicated HGNC/NCBI/Ensembl-to-MONDO associations | +| `mouse_gene_phenotype.jsonl` | MGI gene-to-MP associations with publications and source attribution | +| `snapshot.json` | Release metadata, exact counts, policies, and output checksums | + +Each record receives a deterministic `MONARCHKG:` evidence ID derived from the complete source row. The human export contains 218 exact duplicate rows; they collapse to one evidence record per stable hash. No non-exact evidence is merged. + +## Leakage and source overlap + +The output is marked `current-snapshot-only`. Historical evaluation requires a dated Monarch release that predates the held-out case. Evidence masking operates on deterministic evidence IDs and disease IDs before feature construction. + +Monarch is an aggregator. `primary_source` and `aggregator_sources` are preserved on every row. Records whose primary source is `infores:mgi` must be provenance-linked to the direct MGI snapshot and deduplicated rather than counted as corroboration. diff --git a/docs/OMIA.md b/docs/OMIA.md new file mode 100644 index 0000000000000000000000000000000000000000..690a2dccac47d12c3cf1298afb8f56cee31ab8dc --- /dev/null +++ b/docs/OMIA.md @@ -0,0 +1,46 @@ +# Canine OMIA ingestion + +VariantHound uses a retrieval-dated, checksum-pinned subset of the Online Mendelian Inheritance in Animals (OMIA) database. The transform reads the official MySQL dump as data without executing SQL and joins it to OMIA's separate internal-to-NCBI Gene export. + +## Pinned inputs + +`data/manifests/omia-2026-09-12.json` records the byte count and SHA-256 digest of: + +- the complete `omia.sql.gz` dump retrieved on 2026-09-12; and +- the matching `omia_gene_export.csv` mapping OMIA internal gene IDs to NCBI Gene IDs. + +The raw database dump is never committed or redistributed. Only the canine (`NCBI Taxonomy 9615`) normalized products are eligible for the processed Hugging Face package. OMIA requests citation of DOI `10.25910/2AMR-PV70`, an acknowledgement of the Sydney Informatics Hub, and contact about publications relying on the MySQL dump or extended OMIA data. + +## Stable identity and ranking eligibility + +OMIA's `gene_id` is an internal identifier and is not assumed to equal NCBI Gene. `pipelines/ingest_omia.py` resolves it only through the pinned official gene export. Symbols remain display-only. Missing mappings are retained with `mapping_status: unresolved` and `rank_eligible: false`. + +The normalized files are: + +| File | Contents | +|---|---| +| `genes.jsonl` | Canine OMIA genes and their official NCBI Gene resolution status | +| `phenes.jsonl` | Canine phenes, OMIA record IDs, inheritance, clinical text, breeds, and ontology links | +| `gene_phene_evidence.jsonl` | Stable-ID gene–phene evidence with deterministic masking identifiers | +| `causal_variants.jsonl` | Variants linked to canine single-locus traits, with genes, breeds, publications, HGVS fields, and stated reference assembly | +| `publications.jsonl` | Publications referenced by canine phenes or causal variants | + +## Leakage and temporal policy + +Each gene–phene and causal-variant row has a deterministic `evidence_id` and `mask_ids` containing both the evidence identifier and the binomial OMIA record identifier. Case-specific discovery evidence must be masked before feature construction, aggregation, or candidate scoring. + +The upstream dump is moving and has no historical release tag. This snapshot is therefore `current-snapshot-only` and cannot support temporal evaluation. A publication year is not evidence that the complete OMIA record, gene assignment, or current curation state existed in that year. + +## Coordinates + +OMIA's variant `reference_sequence` is preserved verbatim. Recognized assembly names are copied into `assembly`; other references remain `source-reference-only`. Coordinates from different canine assemblies are never combined or lifted silently. + +## Reproduction + +Place the two pinned inputs in `dist/omia/raw/`, then run: + +```bash +python3 pipelines/ingest_omia.py +``` + +Use `--download` to retrieve both artifacts from the official URLs. Every input checksum and every exact normalized row count must match the release descriptor or the transform stops. diff --git a/docs/ORTHOLOGY.md b/docs/ORTHOLOGY.md index 0f04e2b0a49a8b01d7c35991594bdeb33f6e0d2a..3e5389c4a935057a8f3009666756489294325d7d 100644 --- a/docs/ORTHOLOGY.md +++ b/docs/ORTHOLOGY.md @@ -1,49 +1,62 @@ -# Gene identity and orthology contract - -VariantHound joins dog, human, and mouse evidence only through release-qualified stable identifiers. Gene symbols are useful labels, but they are mutable and are never accepted as the sole join key. - -## Fail-closed release states - -`data/manifests/orthology.json` has two states: - -- `unmaterialized`: the policy is defined, but the Ensembl release, assemblies, timestamp, and checksum are deliberately null and the mapping arrays must be empty; -- `pinned`: all release metadata and species annotation assemblies are present, the source artifact has a SHA-256 checksum, and at least one validated mapping exists. - -Ranking builds must refuse orthology evidence unless the manifest is `pinned`. This keeps a development placeholder or live API response from becoming scientific evidence by accident. - -## Identifier rules - -1. Resolve Ensembl gene IDs first and NCBI Gene IDs second. -2. Preserve the species taxon on every identity. -3. Retain canonical symbols and aliases for display and search only. -4. Record retired, replaced, ambiguous, and unverified IDs instead of silently rewriting them. -5. Put records that cannot be resolved deterministically into the `unresolved` report and exclude them from scoring. - -The normalized record shape is defined by `schemas/gene-identity.schema.json`. - -## Orthology rules - -The browser-facing mapping is dog-centered. Each record is one dog-to-human or dog-to-mouse edge and preserves: - -- the Ensembl homology identifier and source record identifier; -- one-to-one, one-to-many, or many-to-many homology type; -- Ensembl's high-confidence flag and normalized confidence when available; -- an explicit `resolved` or `ambiguous` status; -- warnings needed by downstream explanations. - -Ambiguous edges are retained and flagged so the ranker can expose or down-weight them; they are never collapsed by choosing the first symbol match. - -## Assembly rules - -Gene identities record the annotation assembly supplied by the pinned Ensembl release. Coordinate-bearing canine data has a separate target of `UU_Cfam_GSD_1.0`. Any liftover must retain original and target coordinates, chain-file identity, and mapping status. Orthology does not itself imply that coordinates were lifted successfully. - -## Materialization sequence - -1. Pin one Ensembl release and download a complete dog-human-mouse Compara export. -2. Record the raw artifact checksum and the three annotation assemblies. -3. Normalize stable identifiers and create an unresolved-ID report. -4. Expand one-to-many and many-to-many relationships into explicit edges. -5. Validate the complete manifest, then change `release_status` to `pinned`. -6. Compare row counts, unresolved rates, and ID drift against the previous release before publication. - -This contract is intentionally in place before bulk ingestion because symbol drift and assembly changes are data-layer concerns, not evaluation-time cleanup. +# Gene identity and orthology contract + +VariantHound joins dog, human, and mouse evidence only through release-qualified stable identifiers. Gene symbols are useful labels, but they are mutable and are never accepted as the sole join key. + +## Fail-closed release states + +`data/manifests/orthology.json` has two states: + +- `unmaterialized`: the policy is defined, but the Ensembl release, assemblies, timestamp, and checksum are deliberately null and the mapping arrays must be empty; +- `pinned`: all release metadata and species annotation assemblies are present, the source artifact has a SHA-256 checksum, and at least one validated mapping exists. + +Ranking builds must refuse orthology evidence unless the manifest is `pinned`. This keeps a development placeholder or live API response from becoming scientific evidence by accident. + +The repository keeps the lightweight checked-in manifest `unmaterialized`. The manual Hugging Face workflow uses the immutable descriptor in `data/manifests/ensembl-compara-116.json` to generate and validate the full `pinned` manifest at build time. + +## Identifier rules + +1. Resolve Ensembl gene IDs first and NCBI Gene IDs second. +2. Preserve the species taxon on every identity. +3. Retain canonical symbols and aliases for display and search only. +4. Record retired, replaced, ambiguous, and unverified IDs instead of silently rewriting them. +5. Put records that cannot be resolved deterministically into the `unresolved` report and exclude them from scoring. + +The normalized record shape is defined by `schemas/gene-identity.schema.json`. + +## Orthology rules + +The browser-facing mapping is dog-centered. Each record is one dog-to-human or dog-to-mouse edge and preserves: + +- the Ensembl homology identifier and source record identifier; +- one-to-one, one-to-many, or many-to-many homology type; +- Ensembl's high-confidence flag and normalized confidence when available; +- an explicit `resolved` or `ambiguous` status; +- warnings needed by downstream explanations. + +Ambiguous edges are retained and flagged so the ranker can expose or down-weight them; they are never collapsed by choosing the first symbol match. + +## Assembly rules + +Gene identities record the annotation assembly supplied by the pinned Ensembl release. Coordinate-bearing canine data has a separate target of `UU_Cfam_GSD_1.0`. Any liftover must retain original and target coordinates, chain-file identity, and mapping status. Orthology does not itself imply that coordinates were lifted successfully. + +## Materialization sequence + +1. Pin one Ensembl release and download a complete dog-human-mouse Compara export. +2. Record the raw artifact checksum and the three annotation assemblies. +3. Normalize stable identifiers and create an unresolved-ID report. +4. Expand one-to-many and many-to-many relationships into explicit edges. +5. Validate the complete manifest, then change `release_status` to `pinned`. +6. Compare row counts, unresolved rates, and ID drift against the previous release before publication. + +## Ensembl 116 materialization + +Ensembl's genome-specific homology dumps are not complete independently: each contains an arbitrary subset intended to reduce redundancy. VariantHound therefore verifies and unions the dog, human, and mouse `protein_default` files before filtering dog-human and dog-mouse edges. + +```bash +python3 pipelines/ingest_ensembl_orthology.py +python3 pipelines/validate_data.py --orthology dist/ensembl/orthology.json +``` + +The release is accepted only when it produces exactly 41,504 unique edges with the pinned species and homology-type counts. The normalized data orients every edge dog-first, retains source homology IDs and metrics, and marks every non-one-to-one relationship ambiguous. Compara does not include canonical gene symbols in this bulk table, so symbols remain null rather than being guessed or used as join keys. + +This contract is intentionally in place before bulk ingestion because symbol drift and assembly changes are data-layer concerns, not evaluation-time cleanup. diff --git a/docs/PHENIO.md b/docs/PHENIO.md new file mode 100644 index 0000000000000000000000000000000000000000..36a711feb02d0b0381d0cb710762b3d5a98f2c52 --- /dev/null +++ b/docs/PHENIO.md @@ -0,0 +1,40 @@ +# PHENIO / uPheno ingestion + +VariantHound uses PHENIO as the cross-species phenotype backbone for deterministic semantic similarity. PHENIO is an application ontology that includes uPheno and multiple species phenotype ontologies; VariantHound does not copy the complete integrated graph into its public dataset. + +## Pinned inputs + +`data/manifests/phenio-2026-09-01.json` pins PHENIO release `v2026-09-01` by tag, source commit, immutable GitHub asset IDs, byte counts, and SHA-256 digests. The transform consumes: + +- `phenio-relation-graph.gz`, the release's materialized relation graph; and +- `phenio-upstream-versions.tsv`, which records the integrated ontology versions. + +The relation graph was generated upstream with equivalence-as-subclass, subclass output, and reflexive subclass relations. VariantHound preserves that meaning as an `entailed-reflexive-subclass-closure` rather than treating the rows as asserted direct edges. + +## Compact output + +`pipelines/ingest_phenio.py` scans all 82,128,289 relations but retains only the 3,972,487 subclass-closure rows needed for human/mouse cross-species comparison: + +| Subject | Retained ancestors | +|---|---| +| `HP` | `HP`, `UPHENO` | +| `MP` | `MP`, `UPHENO` | +| `UPHENO` | `UPHENO` | + +The output `phenotype_closure.tsv.gz` contains `phenotype_id` and `ancestor_id`. It includes one reflexive row for each retained phenotype, enabling exact self-matches. `upstream_versions.tsv` keeps the release-level provenance for all integrated sources. Labels and asserted local hierarchies remain in the separately pinned HPO and MGI snapshots. + +Relations to anatomy, qualities, diseases, genes, and phenotype ontologies not used by VariantHound's first ranking path are excluded. This keeps the processed package compact without replacing PHENIO's inferred cross-species bridge with a hand-authored mapping. + +## Evaluation scope + +This is a current release backbone, not a historical snapshot. It may be used for current retrieval and discovery simulation when case-specific evidence is masked before feature construction, but it cannot support temporal evaluation of older cases. + +## Reproduction + +Place the two pinned assets in `dist/phenio/raw/`, then run: + +```bash +python3 pipelines/ingest_phenio.py +``` + +Use `--download` to fetch the immutable release assets. 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"array", + "minItems": 3, + "maxItems": 3, + "items": { "$ref": "#/$defs/artifact" } + }, + "expected": { + "type": "object", + "required": ["record_count", "unresolved_count", "by_target_taxon", "by_homology_type"], + "properties": { + "record_count": { "type": "integer", "minimum": 0 }, + "unresolved_count": { "type": "integer", "minimum": 0 }, + "by_target_taxon": { + "type": "object", + "required": ["NCBITaxon:9606", "NCBITaxon:10090"], + "properties": { + "NCBITaxon:9606": { "type": "integer", "minimum": 0 }, + "NCBITaxon:10090": { "type": "integer", "minimum": 0 } + }, + "additionalProperties": false + }, + "by_homology_type": { + "type": "object", + "required": ["ortholog_one2one", "ortholog_one2many", "ortholog_many2many"], + "properties": { + "ortholog_one2one": { "type": "integer", "minimum": 0 }, + "ortholog_one2many": { "type": "integer", "minimum": 0 }, + "ortholog_many2many": { "type": "integer", "minimum": 0 } + }, + "additionalProperties": false + } + }, + "additionalProperties": false + } + }, + "$defs": { + "species": { + "type": "object", + "required": ["ensembl_name", "taxon_id", "annotation_assembly"], + "properties": { + "ensembl_name": { "type": "string", "minLength": 1 }, + "taxon_id": { "enum": ["NCBITaxon:9615", "NCBITaxon:9606", "NCBITaxon:10090"] }, + "annotation_assembly": { "type": "string", "minLength": 1 } + }, + "additionalProperties": false + }, + "artifact": { + "type": "object", + "required": ["id", "species", "local_name", "source_url", "bytes", "md5", "sha256"], + "properties": { + "id": { "type": "string", "pattern": "^[a-z0-9-]+$" }, + "species": { "enum": ["dog", "human", "mouse"] }, + "local_name": { "type": "string", "pattern": "^[a-z0-9-]+\\.tsv\\.gz$" }, + "source_url": { "type": "string", "format": "uri" }, + "bytes": { "type": "integer", "minimum": 1 }, + "md5": { "type": "string", "pattern": "^[a-f0-9]{32}$" }, + "sha256": { "type": "string", "pattern": "^[a-f0-9]{64}$" } + }, + "additionalProperties": false + } + }, + "additionalProperties": false +} diff --git a/schemas/gene-identity.schema.json b/schemas/gene-identity.schema.json index 703dd1321b64dc633caf63ffd987129183dd7b1e..024f6324c35f014d1118a730f712de1d0f6cf436 100644 --- a/schemas/gene-identity.schema.json +++ b/schemas/gene-identity.schema.json @@ -1,85 +1,85 @@ -{ - "$schema": "https://json-schema.org/draft/2020-12/schema", - "$id": "https://varianthound.aivet.work/schemas/gene-identity.schema.json", - "title": "VariantHound normalized gene identity", - "description": "A species-qualified gene identity. 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Symbols are display metadata and never the sole join key.", + "type": "object", + "required": [ + "taxon_id", + "ensembl_gene_id", + "ncbi_gene_id", + "canonical_symbol", + "aliases", + "annotation_assembly", + "id_status" + ], + "properties": { + "taxon_id": { + "enum": ["NCBITaxon:9615", "NCBITaxon:9606", "NCBITaxon:10090"] + }, + "ensembl_gene_id": { + "type": ["string", "null"], + "pattern": "^ENS[A-Z0-9]*G[0-9]+$" + }, + "ncbi_gene_id": { + "type": ["string", "null"], + "pattern": "^[1-9][0-9]*$" + }, + "canonical_symbol": { + "type": ["string", "null"], + "minLength": 1 + }, + "aliases": { + "type": "array", + "items": { "type": "string", "minLength": 1 }, + "uniqueItems": true + }, + "annotation_assembly": { + "type": ["string", "null"], + "minLength": 1 + }, + "id_status": { + "enum": ["active", "retired", "replaced", "unverified"] + } + }, + "anyOf": [ + { "properties": { "ensembl_gene_id": { "type": "string" } } }, + { "properties": { "ncbi_gene_id": { "type": "string" } } } + ], + "allOf": [ + { + "if": { "properties": { "taxon_id": { "const": "NCBITaxon:9615" } } }, + "then": { + "properties": { + "ensembl_gene_id": { + "type": ["string", "null"], + "pattern": "^ENSCAFG[0-9]+$" + } + } + } + }, + { + "if": { "properties": { "taxon_id": { "const": "NCBITaxon:9606" } } }, + "then": { + "properties": { + "ensembl_gene_id": { + "type": ["string", "null"], + "pattern": "^ENSG[0-9]+$" + } + } + } + }, + { + "if": { "properties": { "taxon_id": { "const": "NCBITaxon:10090" } } }, + "then": { + "properties": { + "ensembl_gene_id": { + "type": ["string", "null"], + "pattern": "^ENSMUSG[0-9]+$" + } + } + } + } + ], + "additionalProperties": false +} diff --git a/schemas/hpo-release.schema.json b/schemas/hpo-release.schema.json new file mode 100644 index 0000000000000000000000000000000000000000..7b3f65e243ecb98bcba592de8c9d32ecce9d6cc1 --- /dev/null +++ b/schemas/hpo-release.schema.json @@ -0,0 +1,52 @@ +{ + "$schema": "https://json-schema.org/draft/2020-12/schema", + "$id": "https://varianthound.aivet.work/schemas/hpo-release.schema.json", + "title": "VariantHound pinned HPO release", + "type": "object", + "additionalProperties": false, + "required": ["schema_version", "source_id", "release", "annotation_release", "tag", "release_url", "retrieved_at", "transform_version", "artifacts", "expected"], + "properties": { + "schema_version": {"const": "1.0.0"}, + "source_id": {"const": "hpo"}, + "release": {"type": "string", "pattern": "^[0-9]{4}-[0-9]{2}-[0-9]{2}$"}, + "annotation_release": {"type": "string", "pattern": "^[0-9]{4}-[0-9]{2}-[0-9]{2}$"}, + "tag": {"type": "string", "pattern": "^v[0-9]{4}-[0-9]{2}-[0-9]{2}$"}, + "release_url": {"type": "string", "format": "uri", "pattern": "^https://github\\.com/obophenotype/human-phenotype-ontology/releases/tag/"}, + "retrieved_at": {"type": "string", "format": "date-time"}, + "transform_version": {"type": "string", "pattern": "^[0-9]+\\.[0-9]+\\.[0-9]+$"}, + "artifacts": { + "type": "array", "minItems": 3, "maxItems": 3, + "items": { + "type": "object", "additionalProperties": false, + "required": ["id", "asset_id", "local_name", "api_url", "browser_url", "bytes", "sha256"], + "properties": { + "id": {"enum": ["ontology-obo", "gene-phenotype-annotations", "disease-phenotype-annotations"]}, + "asset_id": {"type": "integer", "minimum": 1}, + "local_name": {"type": "string"}, + "api_url": {"type": "string", "format": "uri", "pattern": "^https://api\\.github\\.com/repos/obophenotype/human-phenotype-ontology/releases/assets/[0-9]+$"}, + "browser_url": {"type": "string", "format": "uri"}, + "bytes": {"type": "integer", "minimum": 1}, + "sha256": {"type": "string", "pattern": "^[a-f0-9]{64}$"} + } + } + }, + "expected": { + "type": "object", "additionalProperties": false, + "required": ["ontology_terms", "active_terms", "obsolete_terms", "alternate_ids", "is_a_edges", "gene_phenotype_rows", "unique_genes", "gene_diseases", "disease_phenotype_rows", "unique_diseases", "negated_disease_rows", "unresolved_hpo_ids"], + "properties": { + "ontology_terms": {"type": "integer", "minimum": 1}, + "active_terms": {"type": "integer", "minimum": 1}, + "obsolete_terms": {"type": "integer", "minimum": 0}, + "alternate_ids": {"type": "integer", "minimum": 0}, + "is_a_edges": {"type": "integer", "minimum": 0}, + "gene_phenotype_rows": {"type": "integer", "minimum": 1}, + "unique_genes": {"type": "integer", "minimum": 1}, + "gene_diseases": {"type": "integer", "minimum": 1}, + "disease_phenotype_rows": {"type": "integer", "minimum": 1}, + "unique_diseases": {"type": "integer", "minimum": 1}, + "negated_disease_rows": {"type": "integer", "minimum": 0}, + "unresolved_hpo_ids": {"const": 0} + } + } + } +} diff --git a/schemas/learned-model-evaluation.schema.json b/schemas/learned-model-evaluation.schema.json index f6f7a3504dcdd2bb927bcb372a7ee53c602e1cfa..fcf6079bf479e7ef8b9512bc02e604c6d3405f4f 100644 --- a/schemas/learned-model-evaluation.schema.json +++ b/schemas/learned-model-evaluation.schema.json @@ -1,105 +1,105 @@ -{ - "$schema": "https://json-schema.org/draft/2020-12/schema", - "$id": "https://varianthound.aivet.work/schemas/learned-model-evaluation.schema.json", - "title": "VariantHound learned-model evaluation report", - "type": "object", - "required": [ - "schema_version", - "model_id", - "dataset_snapshot_id", - "source_commit", - "leakage_audit_passed", - "hyperparameters_frozen_before_temporal_evaluation", - "data_counts", - "metrics" - ], - "properties": { - "schema_version": { "type": "string", "pattern": "^[0-9]+\\.[0-9]+\\.[0-9]+$" }, - "model_id": { "type": "string", "minLength": 1 }, - "dataset_snapshot_id": { "type": "string", "minLength": 1 }, - "source_commit": { "type": "string", "pattern": "^[a-f0-9]{40}$" }, - "leakage_audit_passed": { "type": "boolean" }, - "hyperparameters_frozen_before_temporal_evaluation": { "type": "boolean" }, - "data_counts": { "$ref": "#/$defs/counts" }, - "metrics": { - "type": 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"required": ["lower", "upper"], - "properties": { - "lower": { "type": "number", "minimum": -1, "maximum": 1 }, - "upper": { "type": "number", "minimum": -1, "maximum": 1 } - }, - "additionalProperties": false - }, - "subgroup": { - "type": "object", - "required": ["id", "case_count", "mrr_delta"], - "properties": { - "id": { "type": "string", "minLength": 1 }, - "case_count": { "type": "integer", "minimum": 1 }, - "mrr_delta": { "type": "number", "minimum": -1, "maximum": 1 } - }, - "additionalProperties": false - }, - "modeMetrics": { - "type": "object", - "required": [ - "baseline", - "candidate", - "primary_delta_ci", - "confidence_level", - "paired_bootstrap_resamples", - "subgroups" - ], - "properties": { - "baseline": { "$ref": "#/$defs/scorePair" }, - "candidate": { "$ref": "#/$defs/scorePair" }, - "primary_delta_ci": { "$ref": "#/$defs/confidenceInterval" }, - "confidence_level": { "type": "number", "exclusiveMinimum": 0.5, "exclusiveMaximum": 1 }, - 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{ "type": "boolean" }, + "hyperparameters_frozen_before_temporal_evaluation": { "type": "boolean" }, + "data_counts": { "$ref": "#/$defs/counts" }, + "metrics": { + "type": "object", + "required": ["discovery", "temporal"], + "properties": { + "discovery": { "$ref": "#/$defs/modeMetrics" }, + "temporal": { "$ref": "#/$defs/modeMetrics" } + }, + "additionalProperties": false + } + }, + "$defs": { + "counts": { + "type": "object", + "required": [ + "discovery_cases", + "independent_disease_groups", + "temporal_cases", + "temporal_disease_groups" + ], + "properties": { + "discovery_cases": { "type": "integer", "minimum": 0 }, + "independent_disease_groups": { "type": "integer", "minimum": 0 }, + "temporal_cases": { "type": "integer", "minimum": 0 }, + "temporal_disease_groups": { "type": "integer", "minimum": 0 } + }, + "additionalProperties": false + }, + "scorePair": { + "type": "object", + "required": ["mrr", "recall_at_10"], + "properties": { + "mrr": { "type": "number", "minimum": 0, "maximum": 1 }, + "recall_at_10": { "type": "number", "minimum": 0, "maximum": 1 } + }, + "additionalProperties": false + }, + "confidenceInterval": { + "type": "object", + "required": ["lower", "upper"], + "properties": { + "lower": { "type": "number", "minimum": -1, "maximum": 1 }, + "upper": { "type": "number", "minimum": -1, "maximum": 1 } + }, + "additionalProperties": false + }, + "subgroup": { + "type": "object", + "required": ["id", "case_count", "mrr_delta"], + "properties": { + "id": { "type": "string", "minLength": 1 }, + "case_count": { "type": "integer", "minimum": 1 }, + "mrr_delta": { "type": "number", "minimum": -1, "maximum": 1 } + }, + "additionalProperties": false + }, + "modeMetrics": { + "type": "object", + "required": [ + "baseline", + "candidate", + "primary_delta_ci", + "confidence_level", + "paired_bootstrap_resamples", + "subgroups" + ], + "properties": { + "baseline": { "$ref": "#/$defs/scorePair" }, + "candidate": { "$ref": "#/$defs/scorePair" }, + "primary_delta_ci": { "$ref": "#/$defs/confidenceInterval" }, + "confidence_level": { "type": "number", "exclusiveMinimum": 0.5, "exclusiveMaximum": 1 }, + "paired_bootstrap_resamples": { "type": "integer", "minimum": 1 }, + "subgroups": { + "type": "array", + "items": { "$ref": "#/$defs/subgroup" }, + "minItems": 1 + } + }, + "additionalProperties": false + } + }, + "additionalProperties": false +} diff --git a/schemas/mgi-release.schema.json b/schemas/mgi-release.schema.json new file mode 100644 index 0000000000000000000000000000000000000000..1fd463e2f4b883fe47c8e5c10ade30073963668e --- /dev/null +++ b/schemas/mgi-release.schema.json @@ -0,0 +1,20 @@ +{ + "$schema": "https://json-schema.org/draft/2020-12/schema", + "$id": "https://varianthound.aivet.work/schemas/mgi-release.schema.json", + "title": "VariantHound pinned MGI report snapshot", + "type": "object", + "additionalProperties": false, + "required": ["schema_version", "source_id", "release", "mp_release", "retrieved_at", "source_url", "transform_version", "mouse_assembly", "artifacts", "expected"], + "properties": { + "schema_version": {"const": "1.0.0"}, + "source_id": {"const": "mgi"}, + "release": {"type": "string", "pattern": "^retrieved-[0-9]{4}-[0-9]{2}-[0-9]{2}$"}, + "mp_release": {"type": "string", "pattern": "^[0-9]{4}-[0-9]{2}-[0-9]{2}$"}, + "retrieved_at": {"type": "string", "format": "date-time"}, + "source_url": {"type": "string", "format": "uri"}, + "transform_version": {"type": "string", "pattern": "^[0-9]+\\.[0-9]+\\.[0-9]+$"}, + "mouse_assembly": {"const": "GRCm39"}, + "artifacts": {"type": "array", "minItems": 4, "maxItems": 4}, + "expected": {"type": "object"} + } +} diff --git a/schemas/ml-readiness-policy.schema.json b/schemas/ml-readiness-policy.schema.json index 06da65c7a600b0ad38096831366c98e268269145..ff26b26ac851f01125d6463335fefd7711302ce0 100644 --- a/schemas/ml-readiness-policy.schema.json +++ b/schemas/ml-readiness-policy.schema.json @@ -1,72 +1,72 @@ -{ - "$schema": "https://json-schema.org/draft/2020-12/schema", - "$id": "https://varianthound.aivet.work/schemas/ml-readiness-policy.schema.json", - "title": "VariantHound learned-model readiness policy", - "type": "object", - "required": [ - "schema_version", - "unit_of_independence", - "baseline_model", - "data_gate", - "promotion_gate", - "leakage_requirements", - "fallback_decision" - ], - "properties": { - "schema_version": { "type": "string", "pattern": "^[0-9]+\\.[0-9]+\\.[0-9]+$" }, - "unit_of_independence": { "const": "disease_group_id" }, - "baseline_model": { "const": "deterministic-weighted-evidence" }, - "data_gate": { - "type": "object", - "required": [ - "minimum_discovery_cases", - "minimum_independent_disease_groups", - "minimum_temporal_cases", - "minimum_temporal_disease_groups" - ], - "properties": { - "minimum_discovery_cases": { "type": "integer", "minimum": 1 }, - "minimum_independent_disease_groups": { "type": "integer", "minimum": 1 }, - "minimum_temporal_cases": { "type": "integer", "minimum": 1 }, - "minimum_temporal_disease_groups": { "type": "integer", "minimum": 1 } - }, - "additionalProperties": false - }, - "promotion_gate": { - "type": "object", - "required": [ - "required_modes", - "primary_metric", - "minimum_primary_delta", - "secondary_metric", - "minimum_secondary_delta", - "confidence_level", - "minimum_paired_bootstrap_resamples", - "require_primary_delta_ci_lower_above", - "maximum_subgroup_mrr_regression" - ], - "properties": { - "required_modes": { "const": ["discovery", "temporal"] }, - "primary_metric": { "const": "mrr" }, - "minimum_primary_delta": { "type": "number", "exclusiveMinimum": 0, "maximum": 1 }, - "secondary_metric": { "const": "recall_at_10" }, - "minimum_secondary_delta": { "type": "number", "exclusiveMinimum": 0, "maximum": 1 }, - "confidence_level": { "type": "number", "exclusiveMinimum": 0.5, "exclusiveMaximum": 1 }, - "minimum_paired_bootstrap_resamples": { "type": "integer", "minimum": 1000 }, - "require_primary_delta_ci_lower_above": { "type": "number", "minimum": -1, "maximum": 1 }, - "maximum_subgroup_mrr_regression": { "type": "number", "minimum": 0, "maximum": 1 } - }, - "additionalProperties": false - }, - "leakage_requirements": { - "const": [ - "disease-level-splits", - "direct-canine-evidence-masked", - "historically-pinned-temporal-snapshot", - "hyperparameters-frozen-before-temporal-evaluation" - ] - }, - "fallback_decision": { "const": "retain-deterministic" } - }, - "additionalProperties": false -} +{ + "$schema": "https://json-schema.org/draft/2020-12/schema", + "$id": "https://varianthound.aivet.work/schemas/ml-readiness-policy.schema.json", + "title": "VariantHound learned-model readiness policy", + "type": "object", + "required": [ + "schema_version", + "unit_of_independence", + "baseline_model", + "data_gate", + "promotion_gate", + "leakage_requirements", + "fallback_decision" + ], + "properties": { + "schema_version": { "type": "string", "pattern": "^[0-9]+\\.[0-9]+\\.[0-9]+$" }, + "unit_of_independence": { "const": "disease_group_id" }, + "baseline_model": { "const": "deterministic-weighted-evidence" }, + "data_gate": { + "type": "object", + "required": [ + "minimum_discovery_cases", + "minimum_independent_disease_groups", + "minimum_temporal_cases", + "minimum_temporal_disease_groups" + ], + "properties": { + "minimum_discovery_cases": { "type": "integer", "minimum": 1 }, + "minimum_independent_disease_groups": { "type": "integer", "minimum": 1 }, + "minimum_temporal_cases": { "type": "integer", "minimum": 1 }, + "minimum_temporal_disease_groups": { "type": "integer", "minimum": 1 } + }, + "additionalProperties": false + }, + "promotion_gate": { + "type": "object", + "required": [ + "required_modes", + "primary_metric", + "minimum_primary_delta", + "secondary_metric", + "minimum_secondary_delta", + "confidence_level", + "minimum_paired_bootstrap_resamples", + "require_primary_delta_ci_lower_above", + "maximum_subgroup_mrr_regression" + ], + "properties": { + "required_modes": { "const": ["discovery", "temporal"] }, + "primary_metric": { "const": "mrr" }, + "minimum_primary_delta": { "type": "number", "exclusiveMinimum": 0, "maximum": 1 }, + "secondary_metric": { "const": "recall_at_10" }, + "minimum_secondary_delta": { "type": "number", "exclusiveMinimum": 0, "maximum": 1 }, + "confidence_level": { "type": "number", "exclusiveMinimum": 0.5, "exclusiveMaximum": 1 }, + "minimum_paired_bootstrap_resamples": { "type": "integer", "minimum": 1000 }, + "require_primary_delta_ci_lower_above": { "type": "number", "minimum": -1, "maximum": 1 }, + "maximum_subgroup_mrr_regression": { "type": "number", "minimum": 0, "maximum": 1 } + }, + "additionalProperties": false + }, + "leakage_requirements": { + "const": [ + "disease-level-splits", + "direct-canine-evidence-masked", + "historically-pinned-temporal-snapshot", + "hyperparameters-frozen-before-temporal-evaluation" + ] + }, + "fallback_decision": { "const": "retain-deterministic" } + }, + "additionalProperties": false +} diff --git a/schemas/monarch-release.schema.json b/schemas/monarch-release.schema.json new file mode 100644 index 0000000000000000000000000000000000000000..b81c85c270ca542f4430684de123dfd8f50299a3 --- /dev/null +++ b/schemas/monarch-release.schema.json @@ -0,0 +1,38 @@ +{ + "$schema": "https://json-schema.org/draft/2020-12/schema", + "$id": "https://varianthound.aivet.work/schemas/monarch-release.schema.json", + "title": "VariantHound pinned Monarch KG release", + "type": "object", + "additionalProperties": false, + "required": ["schema_version", "source_id", "release", "generated_at", "retrieved_at", "release_url", "transform_version", "packages", "artifacts", "expected"], + "properties": { + "schema_version": {"const": "1.0.0"}, + "source_id": {"const": "monarch-kg"}, + "release": {"type": "string", "pattern": "^[0-9]{4}-[0-9]{2}-[0-9]{2}$"}, + "generated_at": {"type": "string", "format": "date-time"}, + "retrieved_at": {"type": "string", "format": "date-time"}, + "release_url": {"type": "string", "format": "uri", "pattern": "^https://data\\.monarchinitiative\\.org/monarch-kg/[0-9]{4}-[0-9]{2}-[0-9]{2}/$"}, + "transform_version": {"type": "string", "pattern": "^[0-9]+\\.[0-9]+\\.[0-9]+$"}, + "packages": { + "type": "object", "additionalProperties": false, + "required": ["biolink", "koza", "monarch-ingest"], + "properties": {"biolink": {"type": "string"}, "koza": {"type": "string"}, "monarch-ingest": {"type": "string"}} + }, + "artifacts": { + "type": "array", "minItems": 4, "maxItems": 4, + "items": { + "type": "object", "additionalProperties": false, + "required": ["id", "local_name", "source_url", "last_modified", "bytes", "sha256"], + "properties": { + "id": {"enum": ["metadata", "human-gene-disease", "mouse-gene-phenotype", "hgnc-crosswalk"]}, + "local_name": {"type": "string"}, + "source_url": {"type": "string", "format": "uri"}, + "last_modified": {"type": "string", "format": "date-time"}, + "bytes": {"type": "integer", "minimum": 1}, + "sha256": {"type": "string", "pattern": "^[a-f0-9]{64}$"} + } + } + }, + "expected": {"type": "object"} + } +} diff --git a/schemas/omia-release.schema.json b/schemas/omia-release.schema.json new file mode 100644 index 0000000000000000000000000000000000000000..d30212b3b5b69bd35f7dec8d0427ae179cd85328 --- /dev/null +++ b/schemas/omia-release.schema.json @@ -0,0 +1,42 @@ +{ + "$schema": "https://json-schema.org/draft/2020-12/schema", + "$id": "https://varianthound.aivet.work/schemas/omia-release.schema.json", + "title": "VariantHound pinned canine OMIA snapshot", + "type": "object", + "additionalProperties": false, + "required": [ + "schema_version", "source_id", "release", "retrieved_at", "source_url", + "citation_url", "citation_doi", "transform_version", "taxon_id", "artifacts", "expected" + ], + "properties": { + "schema_version": {"const": "1.0.0"}, + "source_id": {"const": "omia"}, + "release": {"type": "string", "pattern": "^retrieved-[0-9]{4}-[0-9]{2}-[0-9]{2}$"}, + "retrieved_at": {"type": "string", "format": "date-time"}, + "source_url": {"const": "https://omia.org/static/omia.sql.gz"}, + "citation_url": {"const": "https://omia.org/citing/"}, + "citation_doi": {"const": "10.25910/2AMR-PV70"}, + "transform_version": {"type": "string", "pattern": "^[0-9]+\\.[0-9]+\\.[0-9]+$"}, + "taxon_id": {"const": 9615}, + "artifacts": { + "type": "array", + "minItems": 2, + "maxItems": 2, + "items": { + "type": "object", + "additionalProperties": false, + "required": ["id", "local_name", "source_url", "last_modified", "etag", "bytes", "sha256"], + "properties": { + "id": {"enum": ["mysql-dump", "gene-crosswalk"]}, + "local_name": {"type": "string"}, + "source_url": {"type": "string", "format": "uri"}, + "last_modified": {"type": ["string", "null"], "format": "date-time"}, + "etag": {"type": ["string", "null"]}, + "bytes": {"type": "integer", "minimum": 1}, + "sha256": {"type": "string", "pattern": "^[a-f0-9]{64}$"} + } + } + }, + "expected": {"type": "object"} + } +} diff --git a/schemas/ortholog-map.schema.json b/schemas/ortholog-map.schema.json index e077427ff306c3ea3893eb07ca8e47eb5655dc29..de64ffffe246bc0a2566588a9566a3235f47a93a 100644 --- a/schemas/ortholog-map.schema.json +++ b/schemas/ortholog-map.schema.json @@ -1,191 +1,228 @@ -{ - "$schema": "https://json-schema.org/draft/2020-12/schema", - "$id": "https://varianthound.aivet.work/schemas/ortholog-map.schema.json", - "title": "VariantHound dog ortholog map", - "type": "object", - "required": [ - "schema_version", - "dataset_id", - "release_status", - "provider", - "species", - "id_policy", - "homology_policy", - "coordinate_policy", - "records", - "unresolved" - ], - "properties": { - "schema_version": { "type": "string", "pattern": "^[0-9]+\\.[0-9]+\\.[0-9]+$" }, - "dataset_id": { "const": "varianthound-orthology" }, - "release_status": { "enum": ["unmaterialized", "pinned"] }, - "provider": { - "type": "object", - "required": ["id", "release", "retrieved_at", "source_url", "sha256", "transform_version"], - "properties": { - "id": { "const": "ensembl-compara" }, - "release": { "type": ["integer", "null"], "minimum": 1 }, - "retrieved_at": { "type": ["string", "null"], "format": "date-time" }, - "source_url": { "type": "string", "format": "uri" }, - "sha256": { "type": ["string", "null"], "pattern": "^[a-f0-9]{64}$" }, - "transform_version": { "type": "string", "pattern": "^[0-9]+\\.[0-9]+\\.[0-9]+$" } - }, - "additionalProperties": false - }, - "species": { - "type": "object", - "required": ["dog", "human", "mouse"], - "properties": { - "dog": { "$ref": "#/$defs/species" }, - "human": { "$ref": "#/$defs/species" }, - "mouse": { "$ref": "#/$defs/species" } - }, - "additionalProperties": false - }, - "id_policy": { - "type": "object", - "required": ["stable_id_priority", "symbol_policy", "unresolved_policy"], - "properties": { - "stable_id_priority": { - "const": ["ensembl_gene_id", "ncbi_gene_id"] - }, - "symbol_policy": { "const": "display-only" }, - "unresolved_policy": { "const": "report-and-exclude" } - }, - "additionalProperties": false - }, - "homology_policy": { - "type": "object", - "required": ["accepted_types", "ambiguous_policy", "minimum_confidence"], - "properties": { - "accepted_types": { - "const": ["ortholog_one2one", "ortholog_one2many", "ortholog_many2many"] - }, - "ambiguous_policy": { "const": "retain-and-flag" }, - "minimum_confidence": { "type": ["number", "null"], "minimum": 0, "maximum": 1 } - }, - "additionalProperties": false - }, - "coordinate_policy": { - "type": "object", - "required": ["target_dog_assembly", "mixed_assemblies", "liftover"], - "properties": { - "target_dog_assembly": { "const": "UU_Cfam_GSD_1.0" }, - "mixed_assemblies": { "const": "reject" }, - "liftover": { "const": "retain-original-target-and-chain" } - }, - "additionalProperties": false - }, - "records": { - "type": "array", - "items": { "$ref": "#/$defs/orthologRecord" } - }, - "unresolved": { - "type": "array", - "items": { "$ref": "#/$defs/unresolvedRecord" } - } - }, - "allOf": [ - { - "if": { "properties": { "release_status": { "const": "unmaterialized" } } }, - "then": { - "properties": { - "provider": { - "properties": { - "release": { "type": "null" }, - "retrieved_at": { "type": "null" }, - "sha256": { "type": "null" } - } - }, - "records": { "maxItems": 0 }, - "unresolved": { "maxItems": 0 } - } - } - }, - { - "if": { "properties": { "release_status": { "const": "pinned" } } }, - "then": { - "properties": { - "provider": { - "properties": { - "release": { "type": "integer" }, - "retrieved_at": { "type": "string" }, - "sha256": { "type": "string" } - } - }, - "records": { "minItems": 1 } - } - } - } - ], - "$defs": { - "species": { - "type": "object", - "required": ["taxon_id", "annotation_assembly"], - "properties": { - "taxon_id": { "enum": ["NCBITaxon:9615", "NCBITaxon:9606", "NCBITaxon:10090"] }, - "annotation_assembly": { "type": ["string", "null"], "minLength": 1 } - }, - "additionalProperties": false - }, - "confidence": { - "type": "object", - "required": ["ensembl_high_confidence", "orthology_confidence"], - "properties": { - "ensembl_high_confidence": { "type": "boolean" }, - "orthology_confidence": { "type": ["number", "null"], "minimum": 0, "maximum": 1 } - }, - "additionalProperties": false - }, - "orthologRecord": { - "type": "object", - "required": [ - "homology_id", - "dog_gene", - "ortholog_gene", - "homology_type", - "mapping_status", - "confidence", - "source_record_id", - "warnings" - ], - "properties": { - "homology_id": { "type": "string", "minLength": 1 }, - "dog_gene": { "$ref": "gene-identity.schema.json" }, - "ortholog_gene": { "$ref": "gene-identity.schema.json" }, - "homology_type": { - "enum": ["ortholog_one2one", "ortholog_one2many", "ortholog_many2many"] - }, - "mapping_status": { "enum": ["resolved", "ambiguous"] }, - "confidence": { "$ref": "#/$defs/confidence" }, - "source_record_id": { "type": "string", "minLength": 1 }, - "warnings": { - "type": "array", - "items": { "type": "string", "minLength": 1 }, - "uniqueItems": true - } - }, - "additionalProperties": false - }, - "unresolvedRecord": { - "type": "object", - "required": ["source_taxon_id", "source_identifier", "reason", "details"], - "properties": { - "source_taxon_id": { "enum": ["NCBITaxon:9615", "NCBITaxon:9606", "NCBITaxon:10090"] }, - "source_identifier": { "type": "string", "minLength": 1 }, - "reason": { - "enum": [ - "missing-stable-id", - "no-dog-ortholog", - "conflicting-id", - "assembly-mismatch", - "unsupported-homology" - ] - }, - "details": { "type": "string", "minLength": 1 } - }, - "additionalProperties": false - } - }, - "additionalProperties": false -} +{ + "$schema": "https://json-schema.org/draft/2020-12/schema", + "$id": "https://varianthound.aivet.work/schemas/ortholog-map.schema.json", + "title": "VariantHound dog ortholog map", + "type": "object", + "required": [ + "schema_version", + "dataset_id", + "release_status", + "provider", + "species", + "id_policy", + "homology_policy", + "coordinate_policy", + "records", + "unresolved" + ], + "properties": { + "schema_version": { "type": "string", "pattern": "^[0-9]+\\.[0-9]+\\.[0-9]+$" }, + "dataset_id": { "const": "varianthound-orthology" }, + "release_status": { "enum": ["unmaterialized", "pinned"] }, + "provider": { + "type": "object", + "required": ["id", "release", "retrieved_at", "source_url", "sha256", "transform_version", "artifacts"], + "properties": { + "id": { "const": "ensembl-compara" }, + "release": { "type": ["integer", "null"], "minimum": 1 }, + "retrieved_at": { "type": ["string", "null"], "format": "date-time" }, + "source_url": { "type": "string", "format": "uri" }, + "sha256": { "type": ["string", "null"], "pattern": "^[a-f0-9]{64}$" }, + "transform_version": { "type": "string", "pattern": "^[0-9]+\\.[0-9]+\\.[0-9]+$" }, + "artifacts": { + "type": "array", + "items": { "$ref": "#/$defs/artifact" } + } + }, + "additionalProperties": false + }, + "species": { + "type": "object", + "required": ["dog", "human", "mouse"], + "properties": { + "dog": { "$ref": "#/$defs/species" }, + "human": { "$ref": "#/$defs/species" }, + "mouse": { "$ref": "#/$defs/species" } + }, + "additionalProperties": false + }, + "id_policy": { + "type": "object", + "required": ["stable_id_priority", "symbol_policy", "unresolved_policy"], + "properties": { + "stable_id_priority": { + "const": ["ensembl_gene_id", "ncbi_gene_id"] + }, + "symbol_policy": { "const": "display-only" }, + "unresolved_policy": { "const": "report-and-exclude" } + }, + "additionalProperties": false + }, + "homology_policy": { + "type": "object", + "required": ["accepted_types", "ambiguous_policy", "minimum_confidence"], + "properties": { + "accepted_types": { + "const": ["ortholog_one2one", "ortholog_one2many", "ortholog_many2many"] + }, + "ambiguous_policy": { "const": "retain-and-flag" }, + "minimum_confidence": { "type": ["number", "null"], "minimum": 0, "maximum": 1 } + }, + "additionalProperties": false + }, + "coordinate_policy": { + "type": "object", + "required": ["target_dog_assembly", "mixed_assemblies", "liftover"], + "properties": { + "target_dog_assembly": { "const": "UU_Cfam_GSD_1.0" }, + "mixed_assemblies": { "const": "reject" }, + "liftover": { "const": "retain-original-target-and-chain" } + }, + "additionalProperties": false + }, + "records": { + "type": "array", + "items": { "$ref": "#/$defs/orthologRecord" } + }, + "unresolved": { + "type": "array", + "items": { "$ref": "#/$defs/unresolvedRecord" } + } + }, + "allOf": [ + { + "if": { "properties": { "release_status": { "const": "unmaterialized" } } }, + "then": { + "properties": { + "provider": { + "properties": { + "release": { "type": "null" }, + "retrieved_at": { "type": "null" }, + "sha256": { "type": "null" }, + "artifacts": { "maxItems": 0 } + } + }, + "records": { "maxItems": 0 }, + "unresolved": { "maxItems": 0 } + } + } + }, + { + "if": { "properties": { "release_status": { "const": "pinned" } } }, + "then": { + "properties": { + "provider": { + "properties": { + "release": { "type": "integer" }, + "retrieved_at": { "type": "string" }, + "sha256": { "type": "string" }, + "artifacts": { "minItems": 3 } + } + }, + "records": { "minItems": 1 } + } + } + } + ], + "$defs": { + "artifact": { + "type": "object", + "required": ["id", "species", "source_url", "bytes", "md5", "sha256"], + "properties": { + "id": { "type": "string", "pattern": "^[a-z0-9-]+$" }, + "species": { "enum": ["dog", "human", "mouse"] }, + "source_url": { "type": "string", "format": "uri" }, + "bytes": { "type": "integer", "minimum": 1 }, + "md5": { "type": "string", "pattern": "^[a-f0-9]{32}$" }, + "sha256": { "type": "string", "pattern": "^[a-f0-9]{64}$" } + }, + "additionalProperties": false + }, + "species": { + "type": "object", + "required": ["taxon_id", "annotation_assembly"], + "properties": { + "taxon_id": { "enum": ["NCBITaxon:9615", "NCBITaxon:9606", "NCBITaxon:10090"] }, + "annotation_assembly": { "type": ["string", "null"], "minLength": 1 } + }, + "additionalProperties": false + }, + "confidence": { + "type": "object", + "required": ["ensembl_high_confidence", "orthology_confidence"], + "properties": { + "ensembl_high_confidence": { "type": "boolean" }, + "orthology_confidence": { "type": ["number", "null"], "minimum": 0, "maximum": 1 } + }, + "additionalProperties": false + }, + "orthologRecord": { + "type": "object", + "required": [ + "homology_id", + "dog_gene", + "ortholog_gene", + "homology_type", + "mapping_status", + "confidence", + "source_metrics", + "source_record_id", + "warnings" + ], + "properties": { + "homology_id": { "type": "string", "minLength": 1 }, + "dog_gene": { "$ref": "gene-identity.schema.json" }, + "ortholog_gene": { "$ref": "gene-identity.schema.json" }, + "homology_type": { + "enum": ["ortholog_one2one", "ortholog_one2many", "ortholog_many2many"] + }, + "mapping_status": { "enum": ["resolved", "ambiguous"] }, + "confidence": { "$ref": "#/$defs/confidence" }, + "source_metrics": { "$ref": "#/$defs/sourceMetrics" }, + "source_record_id": { "type": "string", "minLength": 1 }, + "warnings": { + "type": "array", + "items": { "type": "string", "minLength": 1 }, + "uniqueItems": true + } + }, + "additionalProperties": false + }, + "sourceMetrics": { + "type": "object", + "required": [ + "dog_sequence_identity_pct", + "ortholog_sequence_identity_pct", + "gene_order_conservation", + "whole_genome_alignment_coverage" + ], + "properties": { + "dog_sequence_identity_pct": { "type": ["number", "null"], "minimum": 0, "maximum": 100 }, + "ortholog_sequence_identity_pct": { "type": ["number", "null"], "minimum": 0, "maximum": 100 }, + "gene_order_conservation": { "type": ["number", "null"], "minimum": 0, "maximum": 100 }, + "whole_genome_alignment_coverage": { "type": ["number", "null"], "minimum": 0, "maximum": 100 } + }, + "additionalProperties": false + }, + "unresolvedRecord": { + "type": "object", + "required": ["source_taxon_id", "source_identifier", "reason", "details"], + "properties": { + "source_taxon_id": { "enum": ["NCBITaxon:9615", "NCBITaxon:9606", "NCBITaxon:10090"] }, + "source_identifier": { "type": "string", "minLength": 1 }, + "reason": { + "enum": [ + "missing-stable-id", + "no-dog-ortholog", + "conflicting-id", + "assembly-mismatch", + "unsupported-homology" + ] + }, + "details": { "type": "string", "minLength": 1 } + }, + "additionalProperties": false + } + }, + "additionalProperties": false +} diff --git a/schemas/phenio-release.schema.json b/schemas/phenio-release.schema.json new file mode 100644 index 0000000000000000000000000000000000000000..502365d977f5f692f80d8543156fd60d20117e88 --- /dev/null +++ b/schemas/phenio-release.schema.json @@ -0,0 +1,65 @@ +{ + "$schema": "https://json-schema.org/draft/2020-12/schema", + "$id": "https://varianthound.aivet.work/schemas/phenio-release.schema.json", + "title": "VariantHound pinned PHENIO phenotype closure", + "type": "object", + "additionalProperties": false, + "required": [ + "schema_version", "source_id", "release", "tag", "commit_sha", "release_url", + "retrieved_at", "transform_version", "relation_semantics", "retained_prefixes", + "artifacts", "expected" + ], + "properties": { + "schema_version": {"const": "1.0.0"}, + "source_id": {"const": "phenio"}, + "release": {"type": "string", "pattern": "^[0-9]{4}-[0-9]{2}-[0-9]{2}$"}, + "tag": {"type": "string", "pattern": "^v[0-9]{4}-[0-9]{2}-[0-9]{2}$"}, + "commit_sha": {"type": "string", "pattern": "^[a-f0-9]{40}$"}, + "release_url": {"type": "string", "format": "uri", "pattern": "^https://github\\.com/monarch-initiative/phenio/releases/tag/"}, + "retrieved_at": {"type": "string", "format": "date-time"}, + "transform_version": {"type": "string", "pattern": "^[0-9]+\\.[0-9]+\\.[0-9]+$"}, + "relation_semantics": {"const": "entailed-reflexive-subclass-closure"}, + "retained_prefixes": {"const": ["HP", "MP", "UPHENO"]}, + "artifacts": { + "type": "array", "minItems": 2, "maxItems": 2, + "items": { + "type": "object", "additionalProperties": false, + "required": ["id", "asset_id", "local_name", "api_url", "browser_url", "bytes", "sha256"], + "properties": { + "id": {"enum": ["relation-graph", "upstream-versions"]}, + "asset_id": {"type": "integer", "minimum": 1}, + "local_name": {"type": "string"}, + "api_url": {"type": "string", "format": "uri", "pattern": "^https://api\\.github\\.com/repos/monarch-initiative/phenio/releases/assets/[0-9]+$"}, + "browser_url": {"type": "string", "format": "uri"}, + "bytes": {"type": "integer", "minimum": 1}, + "sha256": {"type": "string", "pattern": "^[a-f0-9]{64}$"} + } + } + }, + "expected": { + "type": "object", "additionalProperties": false, + "required": [ + "relation_rows", "subclass_rows", "retained_rows", "non_reflexive_rows", + "reflexive_rows", "hp_subjects", "mp_subjects", "upheno_subjects", + "hp_to_hp", "hp_to_upheno", "mp_to_mp", "mp_to_upheno", + "upheno_to_upheno", "upstream_sources" + ], + "properties": { + "relation_rows": {"type": "integer", "minimum": 1}, + "subclass_rows": {"type": "integer", "minimum": 1}, + "retained_rows": {"type": "integer", "minimum": 1}, + "non_reflexive_rows": {"type": "integer", "minimum": 0}, + "reflexive_rows": {"type": "integer", "minimum": 1}, + "hp_subjects": {"type": "integer", "minimum": 1}, + "mp_subjects": {"type": "integer", "minimum": 1}, + "upheno_subjects": {"type": "integer", "minimum": 1}, + "hp_to_hp": {"type": "integer", "minimum": 1}, + "hp_to_upheno": {"type": "integer", "minimum": 1}, + "mp_to_mp": {"type": "integer", "minimum": 1}, + "mp_to_upheno": {"type": "integer", "minimum": 1}, + "upheno_to_upheno": {"type": "integer", "minimum": 1}, + "upstream_sources": {"type": "integer", "minimum": 1} + } + } + } +} diff --git a/schemas/source-manifest.schema.json b/schemas/source-manifest.schema.json index 790ad8ff0dde5f2cf360566f2378560d966debed..f5fb9d2b7eb608470e9bdf85295edeaa6169f7cc 100644 --- a/schemas/source-manifest.schema.json +++ b/schemas/source-manifest.schema.json @@ -1,31 +1,31 @@ -{ - "$schema": "https://json-schema.org/draft/2020-12/schema", - "$id": "https://varianthound.aivet.work/schemas/source-manifest.schema.json", - "title": "VariantHound source manifest", - "type": "object", - "required": ["schema_version", "sources"], - "properties": { - "schema_version": { "type": "string" }, - "sources": { - "type": "array", - "items": { - "type": "object", - "required": ["id", "name", "role", "homepage", "access_url", "citation_url", "pinning_strategy", "redistribution"], - "properties": { - "id": { "type": "string", "pattern": "^[a-z0-9-]+$" }, - "name": { "type": "string" }, - "role": { "type": "string" }, - "homepage": { "type": "string", "format": "uri" }, - "access_url": { "type": "string", "format": "uri" }, - "citation_url": { "type": "string", "format": "uri" }, - "pinning_strategy": { "type": "string" }, - "redistribution": { "enum": ["processed-only", "attribution", "source-link-only"] }, - "assembly": { "type": ["string", "null"] }, - "notes": { "type": "string" } - }, - "additionalProperties": false - } - } - }, - "additionalProperties": false -} +{ + "$schema": "https://json-schema.org/draft/2020-12/schema", + "$id": "https://varianthound.aivet.work/schemas/source-manifest.schema.json", + "title": "VariantHound source manifest", + "type": "object", + "required": ["schema_version", "sources"], + "properties": { + "schema_version": { "type": "string" }, + "sources": { + "type": "array", + "items": { + "type": "object", + "required": ["id", "name", "role", "homepage", "access_url", "citation_url", "pinning_strategy", "redistribution"], + "properties": { + "id": { "type": "string", "pattern": "^[a-z0-9-]+$" }, + "name": { "type": "string" }, + "role": { "type": "string" }, + "homepage": { "type": "string", "format": "uri" }, + "access_url": { "type": "string", "format": "uri" }, + "citation_url": { "type": "string", "format": "uri" }, + "pinning_strategy": { "type": "string" }, + "redistribution": { "enum": ["processed-only", "attribution", "source-link-only"] }, + "assembly": { "type": ["string", "null"] }, + "notes": { "type": "string" } + }, + "additionalProperties": false + } + } + }, + "additionalProperties": false +}